ClinVar Miner

Variants with conflicting interpretations "benign" from Genetic Services Laboratory, University of Chicago and "likely benign" from any submitter

Minimum review status of the submission from Genetic Services Laboratory, University of Chicago: Collection method of the submission from Genetic Services Laboratory, University of Chicago:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1879
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HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=) rs1056875 0.45696
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492 0.44551
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238 0.35628
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995 0.35566
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746 0.35516
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377 0.35383
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34979
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043 0.29094
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413 0.24634
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746 0.24029
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838 0.23912
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007 0.21486
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674 0.21485
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_018249.6(CDK5RAP2):c.2274T>C (p.Asp758=) rs2501727 0.18906
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871 0.17564
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166 0.16435
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164 0.16204
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465 0.15861
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749 0.14445
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406 0.13367
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569 0.13356
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747 0.13294
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
NM_006757.4(TNNT3):c.762C>T (p.Gly254=) rs4727 0.12344
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347 0.11354
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538 0.10360
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09551
NM_001367721.1(CASK):c.1034-6C>T rs73470569 0.09241
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_018249.6(CDK5RAP2):c.4041G>A (p.Leu1347=) rs6478475 0.09053
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr) rs4893852 0.08349
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu) rs13398235 0.07839
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715 0.07538
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526 0.07129
NM_018249.6(CDK5RAP2):c.480A>C (p.Leu160=) rs3750494 0.07110
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622 0.06994
NM_001458.5(FLNC):c.3624G>A (p.Ala1208=) rs35281128 0.06868
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) rs112562759 0.06801
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=) rs10084221 0.06701
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=) rs10201909 0.06660
NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln) rs2291569 0.06258
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521 0.05751
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048 0.05739
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala) rs16866378 0.05725
NM_201525.4(ADGRG1):c.1286+6G>A rs74326170 0.05376
NM_006031.6(PCNT):c.711T>G (p.His237Gln) rs34500739 0.05250
NM_005677.4(COLQ):c.934A>G (p.Ser312Gly) rs6782980 0.05224
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His) rs34268261 0.05068
NM_006031.6(PCNT):c.8258G>A (p.Arg2753His) rs743346 0.04982
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208 0.04977
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn) rs2306636 0.04907
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888 0.04798
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289 0.04792
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_173660.5(DOK7):c.753G>A (p.Ala251=) rs59932476 0.04559
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_006031.6(PCNT):c.54+6C>T rs80017051 0.04471
NM_015192.4(PLCB1):c.99+8T>C rs6086350 0.04369
NM_005677.4(COLQ):c.366+7A>G rs750387 0.04329
NM_006031.6(PCNT):c.7130C>T (p.Pro2377Leu) rs61735814 0.04295
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=) rs1139406 0.04214
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=) rs35959206 0.04188
NM_001614.5(ACTG1):c.1014G>A (p.Ser338=) rs1139807 0.04188
NM_207346.3(TSEN54):c.568G>A (p.Val190Met) rs79508780 0.04141
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04082
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu) rs16866380 0.04073
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243 0.04071
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_001267550.2(TTN):c.49731T>C (p.His16577=) rs2115558 0.03943
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752 0.03923
NM_006031.6(PCNT):c.520A>G (p.Ile174Val) rs61735822 0.03881
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile) rs2278196 0.03742
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412 0.03700
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324 0.03639
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=) rs72677244 0.03561
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881 0.03550
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715 0.03523
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr) rs11896637 0.03502
NM_006031.6(PCNT):c.3580G>A (p.Ala1194Thr) rs35044802 0.03488
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro) rs34151633 0.03401
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03319
NM_000540.3(RYR1):c.12094+11A>G rs73933018 0.03267
NM_001848.3(COL6A1):c.1773G>A (p.Pro591=) rs74852641 0.03265
NM_001378778.1(MPDZ):c.5723G>A (p.Arg1908Lys) rs34605667 0.03134
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605 0.03116
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03110
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03057
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_212550.5(BLOC1S3):c.322C>G (p.Leu108Val) rs75792246 0.02993
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=) rs11882640 0.02972
NM_024596.5(MCPH1):c.1728C>T (p.Gly576=) rs41313954 0.02943
NM_182914.3(SYNE2):c.9078A>T (p.Glu3026Asp) rs34843668 0.02941
NM_182914.3(SYNE2):c.7690A>G (p.Ile2564Val) rs11628107 0.02936
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720 0.02889
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_004560.4(ROR2):c.1710G>A (p.Pro570=) rs41277837 0.02804
NM_025009.5(CEP135):c.335G>A (p.Arg112His) rs77591659 0.02766
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val) rs4790235 0.02635
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179 0.02602
NM_007254.4(PNKP):c.1189-10del rs3739205 0.02593
NM_018249.6(CDK5RAP2):c.5418C>T (p.Pro1806=) rs3739822 0.02551
NM_012301.4(MAGI2):c.3915G>A (p.Gln1305=) rs117054456 0.02550
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_003482.4(KMT2D):c.15978T>G (p.Leu5326=) rs55776396 0.02513
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640 0.02449
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln) rs55865069 0.02422
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
NM_020320.5(RARS2):c.991A>G (p.Ile331Val) rs3757370 0.02330
NM_003611.3(OFD1):c.2387+11C>T rs140369491 0.02280
NM_000540.3(RYR1):c.5622A>G (p.Glu1874=) rs35021937 0.02251
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg) rs116262672 0.02238
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=) rs55847232 0.02188
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=) rs2303829 0.02187
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455 0.02182
NM_006031.6(PCNT):c.5879G>A (p.Arg1960Gln) rs34813667 0.02167
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=) rs45613041 0.02154
NM_018451.5(CENPJ):c.187G>C (p.Asp63His) rs7336216 0.02151
NM_000540.3(RYR1):c.11908-14A>G rs2292799 0.02149
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu) rs4802584 0.02143
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=) rs35445420 0.02143
NM_018249.6(CDK5RAP2):c.1093-14G>A rs75029577 0.02140
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869 0.02132
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831 0.02114
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570 0.02106
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563 0.02080
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02072
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=) rs2288566 0.02055
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=) rs12621078 0.01996
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 0.01993
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860 0.01992
NM_001267550.2(TTN):c.91852+8T>A rs56145100 0.01992
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257 0.01992
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745 0.01991
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246 0.01989
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=) rs3813247 0.01986
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=) rs56214710 0.01979
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=) rs35902696 0.01962
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170 0.01961
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01917
NM_153252.5(BRWD3):c.813+10G>C rs55824836 0.01875
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=) rs35993209 0.01827
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=) rs35763271 0.01816
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr) rs28932177 0.01809
NM_000540.3(RYR1):c.12624+14C>T rs75797287 0.01777
NM_001184.4(ATR):c.946G>A (p.Val316Ile) rs28897764 0.01744
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 0.01709
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054 0.01682
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01678
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987 0.01656
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954 0.01649
NM_173560.4(RFX6):c.1328-10T>C rs182606018 0.01645
NM_001184.4(ATR):c.2875G>A (p.Val959Met) rs28910271 0.01643
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=) rs142518033 0.01592
NM_212550.5(BLOC1S3):c.366C>T (p.His122=) rs571269735 0.01592
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr) rs2922828 0.01586
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_001197104.2(KMT2A):c.89C>G (p.Ala30Gly) rs9332745 0.01573
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) rs2230158 0.01567
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159 0.01563
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_018249.6(CDK5RAP2):c.4821G>C (p.Arg1607Ser) rs16909747 0.01549
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val) rs12481791 0.01548
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_006662.3(SRCAP):c.4293C>G (p.Val1431=) rs79597785 0.01517
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771 0.01514
NM_144508.5(KNL1):c.727A>G (p.Ile243Val) rs76371152 0.01510
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_144508.5(KNL1):c.4931A>G (p.Lys1644Arg) rs76098847 0.01498
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) rs1801215 0.01494
NM_003560.4(PLA2G6):c.172G>A (p.Val58Ile) rs11570605 0.01488
NM_015192.4(PLCB1):c.924A>G (p.Ser308=) rs6056003 0.01487
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489 0.01481
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01455
NM_006059.4(LAMC3):c.-2C>T rs137883250 0.01424
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=) rs55757622 0.01419
NM_025265.4(TSEN2):c.1350G>A (p.Leu450=) rs116627250 0.01389
NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=) rs112290343 0.01385
NM_006662.3(SRCAP):c.7263C>A (p.Arg2421=) rs74947321 0.01380
NM_004153.4(ORC1):c.1115C>T (p.Ala372Val) rs3087476 0.01375
NM_000540.3(RYR1):c.7835+7C>T rs114522234 0.01374
NM_207346.3(TSEN54):c.1468C>T (p.Arg490Trp) rs144662042 0.01362
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_003355.3(UCP2):c.750C>T (p.Tyr250=) rs45526034 0.01354
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) rs533485167 0.01351
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457 0.01351
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_173560.4(RFX6):c.1327C>T (p.His443Tyr) rs77146142 0.01320
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 0.01294
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) rs35986650 0.01258
NM_000208.4(INSR):c.653-9del rs754360103 0.01255
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500 0.01239
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_018451.5(CENPJ):c.287A>G (p.His96Arg) rs61739263 0.01206
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_001267550.2(TTN):c.1003G>A (p.Val335Met) rs72647846 0.01195
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045 0.01192
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_004268.5(MED17):c.1482A>G (p.Gln494=) rs34380494 0.01172
NM_001267550.2(TTN):c.1398+8C>T rs72647848 0.01171
NM_001614.5(ACTG1):c.177G>A (p.Gln59=) rs11549220 0.01161
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371 0.01150
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly) rs140448154 0.01146
NM_001371596.2(MFSD8):c.573A>G (p.Thr191=) rs115275192 0.01140
NM_004782.4(SNAP29):c.-8C>G rs186825747 0.01122
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=) rs72648935 0.01116
NM_001379500.1(COL18A1):c.241C>T (p.Arg81Trp) rs76658745 0.01115
NM_001283009.2(RTEL1):c.2546G>A (p.Gly849Asp) rs190887884 0.01112
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=) rs6711223 0.01102
NM_018136.5(ASPM):c.2805T>C (p.Ser935=) rs113161395 0.01101
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186 0.01081
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537 0.01071
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069 0.01068
NM_006059.4(LAMC3):c.1792G>A (p.Gly598Arg) rs116422150 0.01053
NM_001291303.3(FAT4):c.13605G>A (p.Lys4535=) rs75469760 0.01048
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=) rs719202 0.01042
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg) rs35198096 0.01041
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met) rs116456291 0.01031
NM_001040142.2(SCN2A):c.1785T>C (p.Asp595=) rs141815642 0.01027
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707 0.01025
NM_001184.4(ATR):c.5868C>T (p.Tyr1956=) rs112018640 0.01020
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly) rs72648951 0.01012
NM_007294.4(BRCA1):c.*1332G>A rs8176320 0.01007
NM_177438.3(DICER1):c.4206+9del rs368080354 0.01007
NM_001079802.2(FKTN):c.42G>A (p.Thr14=) rs78794935 0.01002
NM_207346.3(TSEN54):c.1328C>G (p.Ser443Cys) rs150169668 0.01002
NM_001160372.4(TRAPPC9):c.1869C>T (p.Ser623=) rs117685875 0.01001
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935 0.01001
NM_000136.3(FANCC):c.-155A>C rs549658720 0.00998
NM_032444.4(SLX4):c.4338C>T (p.Thr1446=) rs77718962 0.00998
NM_032444.4(SLX4):c.5146T>A (p.Ser1716Thr) rs75182789 0.00995
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_000540.3(RYR1):c.11625G>A (p.Ala3875=) rs61729397 0.00991
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys) rs147266709 0.00982
NM_030928.4(CDT1):c.130A>C (p.Thr44Pro) rs587780306 0.00981
NM_001379500.1(COL18A1):c.3610G>A (p.Ala1204Thr) rs144147445 0.00980
NM_000064.4(C3):c.4457-5C>T rs344554 0.00979
NM_005445.4(SMC3):c.1092-8T>G rs79912955 0.00975
NM_007137.5(ZNF81):c.554C>T (p.Ser185Leu) rs186251256 0.00975
NM_032444.4(SLX4):c.999C>T (p.Ile333=) rs7198338 0.00974
NM_198334.3(GANAB):c.2548C>T (p.His850Tyr) rs114915323 0.00973
NM_007325.5(GRIA3):c.1501-8T>A rs139058646 0.00969
NM_000479.5(AMH):c.974A>G (p.Gln325Arg) rs140765565 0.00966
NM_001374828.1(ARID1B):c.3828G>A (p.Glu1276=) rs61745451 0.00966
NM_001083961.2(WDR62):c.1642+8C>T rs143309981 0.00960
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968 0.00959
NM_198253.2(TERT):c.-218C>G rs34233268 0.00953
NM_144508.5(KNL1):c.3810G>A (p.Ala1270=) rs34758606 0.00949
NM_001042413.2(GLIS3):c.171C>T (p.Asn57=) rs117802495 0.00947
NM_025099.6(CTC1):c.2154T>A (p.Asp718Glu) rs62637610 0.00947
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168 0.00946
NM_001972.4(ELANE):c.655G>A (p.Val219Ile) rs17216656 0.00945
NM_004998.4(MYO1E):c.2130G>A (p.Val710=) rs114132435 0.00944
NM_012096.3(APPL1):c.36G>C (p.Thr12=) rs79282761 0.00944
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164 0.00935
NM_017668.3(NDE1):c.572C>T (p.Thr191Ile) rs113493697 0.00935
NM_004655.4(AXIN2):c.1573C>G (p.Pro525Ala) rs73346297 0.00930
NM_004924.6(ACTN4):c.929G>A (p.Arg310Gln) rs112545413 0.00927
NM_032575.3(GLIS2):c.1259C>T (p.Pro420Leu) rs75495782 0.00923
NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu) rs77518617 0.00922
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_002582.4(PARN):c.1383T>C (p.Leu461=) rs143472178 0.00920
NM_004826.4(ECEL1):c.967-7C>G rs76735188 0.00917
NM_020937.4(FANCM):c.5190G>A (p.Gln1730=) rs7142192 0.00916
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_020937.4(FANCM):c.3863A>G (p.Asn1288Ser) rs116519044 0.00914
NM_001160372.4(TRAPPC9):c.414C>T (p.Tyr138=) rs115986561 0.00912
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00894
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) rs11570680 0.00890
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_016222.4(DDX41):c.*3C>T rs73804364 0.00886
NM_000195.5(HPS1):c.255+9A>G rs78927693 0.00885
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053 0.00876
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_014159.7(SETD2):c.3249A>C (p.Thr1083=) rs80241480 0.00871
NM_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033 0.00871
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_014159.7(SETD2):c.2543C>T (p.Ala848Val) rs75248784 0.00870
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939 0.00867
NM_019066.5(MAGEL2):c.1446T>C (p.Ala482=) rs2233065 0.00866
NM_020937.4(FANCM):c.5656C>T (p.His1886Tyr) rs79343837 0.00864
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=) rs76974316 0.00862
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_005228.5(EGFR):c.1509C>T (p.Gly503=) rs17336800 0.00859
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_001378030.1(CCDC78):c.712A>C (p.Lys238Gln) rs142136104 0.00853
NM_006009.4(TUBA1A):c.1008G>A (p.Lys336=) rs11829764 0.00853
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_005228.5(EGFR):c.2047C>T (p.Leu683=) rs55669340 0.00851
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln) rs138615800 0.00848
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_004187.5(KDM5C):c.1884G>A (p.Gln628=) rs74850270 0.00847
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_030973.4(MED25):c.1727C>G (p.Ala576Gly) rs193291405 0.00836
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly) rs17076894 0.00834
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_017791.3(FLVCR2):c.835C>T (p.Pro279Ser) rs45479302 0.00830
NM_001807.6(CEL):c.2064C>G (p.Gly688=) rs373329036 0.00828
NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=) rs34179337 0.00827
NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=) rs61748693 0.00825
NM_003073.5(SMARCB1):c.362+7C>T rs34746244 0.00815
NM_020921.4(NIN):c.264A>T (p.Pro88=) rs61755037 0.00815
NM_001184.4(ATR):c.268C>T (p.His90Tyr) rs28897763 0.00813
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_032444.4(SLX4):c.1898G>A (p.Gly633Asp) rs1056085 0.00810
NM_001194998.2(CEP152):c.2378G>T (p.Ser793Ile) rs2289178 0.00809
NM_004364.5(CEBPA):c.693C>G (p.Pro231=) rs550308123 0.00808
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_002465.4(MYBPC1):c.2010C>T (p.Tyr670=) rs77045393 0.00802
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His) rs116644127 0.00802
NM_000540.3(RYR1):c.13464G>A (p.Pro4488=) rs10405232 0.00800
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=) rs80039127 0.00793
NM_020937.4(FANCM):c.2445G>A (p.Ser815=) rs61745871 0.00791
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys) rs34058399 0.00789
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met) rs78461695 0.00787
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile) rs146819984 0.00781
NM_004364.5(CEBPA):c.756G>T (p.Ala252=) rs571969199 0.00778
NM_003661.4(APOL1):c.792C>A (p.Asn264Lys) rs73885316 0.00777
NM_177438.3(DICER1):c.2370G>A (p.Arg790=) rs112712209 0.00777
NM_000141.5(FGFR2):c.294G>A (p.Thr98=) rs1047101 0.00776
NM_015421.4(TMEM186):c.1A>G (p.Met1Val) rs147436106 0.00773
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054 0.00771
NM_006031.6(PCNT):c.4910C>T (p.Pro1637Leu) rs34849154 0.00771
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met) rs75024419 0.00771
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=) rs115746478 0.00769
NM_000540.3(RYR1):c.906C>T (p.Asp302=) rs145943283 0.00765
NM_006031.6(PCNT):c.7914-4G>A rs76287849 0.00764
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly) rs200793796 0.00760
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736 0.00760
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His) rs77075366 0.00759
NM_022552.5(DNMT3A):c.759C>T (p.Pro253=) rs77558739 0.00759
NM_022725.4(FANCF):c.387C>T (p.Leu129=) rs45556032 0.00759
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126 0.00758
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778 0.00758
NM_001371928.1(AHDC1):c.1326C>T (p.Gly442=) rs188125472 0.00758
NM_025077.4(TOE1):c.1141G>A (p.Glu381Lys) rs61323219 0.00757
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_007059.4(KPTN):c.631G>C (p.Gly211Arg) rs182019900 0.00755
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg) rs7528827 0.00754
NM_004364.5(CEBPA):c.1041G>A (p.Glu347=) rs141430731 0.00752
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_015114.3(ANKLE2):c.1986C>T (p.Ser662=) rs114132434 0.00748
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser) rs116716038 0.00747
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) rs61754118 0.00745
NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr) rs113195648 0.00745
NM_001813.3(CENPE):c.3529A>T (p.Met1177Leu) rs35975325 0.00742
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=) rs61742808 0.00740
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His) rs36084488 0.00738
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_030632.3(ASXL3):c.5991A>G (p.Lys1997=) rs75411012 0.00737
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_020461.4(TUBGCP6):c.5181G>A (p.Thr1727=) rs35231253 0.00736
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) rs192925278 0.00734
NM_001164508.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762 0.00734
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00733
NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val) rs111759069 0.00733
NM_007294.4(BRCA1):c.*781C>T rs8176319 0.00732
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_001353108.3(CEP63):c.1155C>A (p.Asn385Lys) rs34189216 0.00729
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys) rs146953558 0.00728
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala) rs149518409 0.00727
NM_002472.3(MYH8):c.3686T>C (p.Met1229Thr) rs35962914 0.00723
NM_001174150.2(ARL13B):c.105C>T (p.Thr35=) rs146396078 0.00721
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val) rs45496299 0.00721
NM_018136.5(ASPM):c.5629G>A (p.Ala1877Thr) rs112230218 0.00719
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_001276270.2(MBD4):c.1073T>C (p.Ile358Thr) rs2307298 0.00713
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_001848.3(COL6A1):c.1823-8G>A rs184666690 0.00711
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_001379500.1(COL18A1):c.3673G>A (p.Val1225Met) rs77326997 0.00707
NM_006206.6(PDGFRA):c.672G>A (p.Val224=) rs151259376 0.00707
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_001379110.1(SLC9A6):c.1662-4G>A rs188072063 0.00703
NM_000041.4(APOE):c.487C>T (p.Arg163Cys) rs769455 0.00701
NM_006949.4(STXBP2):c.1191G>A (p.Ala397=) rs76836497 0.00700
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895 0.00698
NM_004260.4(RECQL4):c.-6C>T rs35827852 0.00694
NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=) rs138683183 0.00691
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_015559.3(SETBP1):c.3618T>C (p.His1206=) rs34882016 0.00689
NM_018136.5(ASPM):c.1987G>T (p.Ala663Ser) rs113611857 0.00689
NM_022436.3(ABCG5):c.775-10G>T rs114549158 0.00688
NM_173689.7(CRB2):c.1828C>T (p.Arg610Trp) rs145286619 0.00688
NM_000540.3(RYR1):c.4055C>G (p.Ala1352Gly) rs112105381 0.00685
NM_001126049.2(KLLN):c.-956G>T rs34149102 0.00683
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_001164508.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008 0.00681
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_000516.7(GNAS):c.951C>T (p.Arg317=) rs75561530 0.00680
NM_021008.4(DEAF1):c.1634C>G (p.Ala545Gly) rs34114147 0.00680
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu) rs114472821 0.00679
NM_173689.7(CRB2):c.2709C>T (p.Arg903=) rs116379540 0.00679
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=) rs2066831 0.00677
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_022437.3(ABCG8):c.1365C>T (p.Ile455=) rs115227860 0.00675
NM_000264.5(PTCH1):c.1074T>C (p.His358=) rs2066832 0.00674
NM_016373.4(WWOX):c.613C>A (p.His205Asn) rs74860463 0.00674
NM_001374828.1(ARID1B):c.2137-3T>A rs116661275 0.00673
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser) rs4986940 0.00670
NM_030632.3(ASXL3):c.3555T>C (p.Ser1185=) rs61734143 0.00670
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704 0.00665
NM_030787.4(CFHR5):c.429T>C (p.Thr143=) rs140215003 0.00665
NM_000208.4(INSR):c.2683-5C>T rs41306363 0.00664
NM_025077.4(TOE1):c.1176G>A (p.Leu392=) rs149142910 0.00664
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_004722.4(AP4M1):c.228C>T (p.Pro76=) rs41280965 0.00663
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
NM_018136.5(ASPM):c.3741+3A>G rs138558822 0.00656
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_017654.4(SAMD9):c.4733T>C (p.Ile1578Thr) rs144380633 0.00655
NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn) rs201636725 0.00654
NM_153240.5(NPHP3):c.1887+6G>A rs79113972 0.00654
NM_004153.4(ORC1):c.806C>T (p.Ser269Leu) rs61753390 0.00653
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_001194998.2(CEP152):c.4857T>C (p.Asp1619=) rs74986073 0.00651
NM_001080414.4(CCDC88C):c.5980C>G (p.Arg1994Gly) rs45560241 0.00650
NM_032444.4(SLX4):c.1803G>A (p.Ser601=) rs144892556 0.00649
NM_001190274.2(FBXO11):c.*1173A>T rs2020906 0.00645
NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg) rs201962705 0.00645
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_000059.4(BRCA2):c.-175C>T rs55880202 0.00642
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194 0.00641
NM_032444.4(SLX4):c.1755C>T (p.Pro585=) rs114016359 0.00638
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu) rs35738915 0.00636
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=) rs150691758 0.00634
NM_015559.3(SETBP1):c.1491G>A (p.Pro497=) rs113053616 0.00634
NM_003159.2(CDKL5):c.-391G>T rs191864898 0.00632
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_014271.4(IL1RAPL1):c.1191G>A (p.Glu397=) rs7049358 0.00631
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053 0.00629
NM_199242.3(UNC13D):c.753+3G>A rs116229331 0.00627
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00625
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_152384.3(BBS5):c.620G>A (p.Arg207His) rs35487251 0.00625
NM_152743.4(BRAT1):c.1884C>T (p.Ala628=) rs142346283 0.00625
NM_012452.3(TNFRSF13B):c.61+10C>T rs148297590 0.00621
NM_033453.4(ITPA):c.278A>G (p.Glu93Gly) rs34982958 0.00620
NM_017841.4(SDHAF2):c.*12C>T rs113652589 0.00617
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_000207.3(INS):c.188-16C>T rs5507 0.00616
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289 0.00616
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020 0.00616
NM_004304.5(ALK):c.1464C>T (p.Gly488=) rs56165377 0.00615
NM_017838.4(NHP2):c.302G>A (p.Arg101Gln) rs145890370 0.00615
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_000233.4(LHCGR):c.622G>A (p.Val208Ile) rs61996321 0.00614
NM_001197104.2(KMT2A):c.1504G>A (p.Glu502Lys) rs9332772 0.00614
NM_004369.4(COL6A3):c.4285+9G>A rs75780727 0.00613
NM_024642.5(GALNT12):c.579A>G (p.Gly193=) rs146370762 0.00613
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) rs62625033 0.00610
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000516.7(GNAS):c.384G>A (p.Val128=) rs3730166 0.00609
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_000540.3(RYR1):c.573C>T (p.Asp191=) rs892054 0.00607
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035 0.00605
NM_019066.5(MAGEL2):c.1038G>C (p.Arg346Ser) rs115892604 0.00605
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) rs184420466 0.00604
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_005373.3(MPL):c.1309-10C>T rs139486615 0.00602
NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val) rs116775947 0.00602
NM_001367561.1(DOCK7):c.4696G>A (p.Gly1566Ser) rs147103646 0.00601
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) rs146253630 0.00599
NM_015102.5(NPHP4):c.1442-7C>T rs146078470 0.00599
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724 0.00598
NM_001291303.3(FAT4):c.4154T>C (p.Leu1385Ser) rs139883132 0.00597
NM_006063.3(KLHL41):c.863T>G (p.Leu288Arg) rs139415849 0.00597
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_022725.4(FANCF):c.557C>T (p.Ala186Val) rs113910234 0.00595
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His) rs59915619 0.00594
NM_001080510.5(METTL23):c.496G>A (p.Asp166Asn) rs138247613 0.00593
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=) rs115070904 0.00590
NM_014625.4(NPHS2):c.891G>A (p.Ala297=) rs5005771 0.00589
NM_019066.5(MAGEL2):c.678T>G (p.Gly226=) rs367737053 0.00589
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759 0.00586
NM_001024613.4(FEZF1):c.253A>G (p.Ser85Gly) rs145467198 0.00585
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_000091.5(COL4A3):c.1398T>C (p.Asp466=) rs145833114 0.00584
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_000516.7(GNAS):c.366C>T (p.Pro122=) rs35287986 0.00583
NM_030773.4(TUBB1):c.1075C>T (p.Arg359Trp) rs140943896 0.00583
NM_000383.4(AIRE):c.497C>T (p.Pro166Leu) rs11910214 0.00580
NM_020987.5(ANK3):c.1047C>T (p.Cys349=) rs117138204 0.00580
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834 0.00578
NM_004268.5(MED17):c.1500G>A (p.Glu500=) rs76149470 0.00578
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_004304.5(ALK):c.1719C>T (p.Thr573=) rs74830770 0.00577
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_018943.3(TUBA8):c.250C>T (p.Arg84Cys) rs115847686 0.00577
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444 0.00577
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344 0.00575
NM_014625.4(NPHS2):c.182C>T (p.Ala61Val) rs201050491 0.00575
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042 0.00575
NM_173689.7(CRB2):c.3325C>G (p.His1109Asp) rs185968694 0.00575
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832 0.00574
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534 0.00573
NM_006031.6(PCNT):c.8752-5A>C rs149444205 0.00573
NM_020699.4(GATAD2B):c.676C>G (p.Pro226Ala) rs115193744 0.00573
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu) rs17216663 0.00569
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg) rs34132016 0.00569
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_001283009.2(RTEL1):c.1727G>A (p.Arg576His) rs115423936 0.00567
NM_002067.5(GNA11):c.321+9G>A rs143987260 0.00567
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_001143992.2(WRAP53):c.936C>T (p.Cys312=) rs73248508 0.00565
NM_004260.4(RECQL4):c.309G>A (p.Pro103=) rs4251688 0.00564
NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr) rs74012142 0.00563
NM_173689.7(CRB2):c.278G>A (p.Arg93His) rs138381817 0.00563
NM_000939.4(POMC):c.18C>T (p.Cys6=) rs8192605 0.00562
NM_001377304.1(GFI1B):c.238+7C>T rs11793702 0.00562
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_001199397.3(NEK1):c.3624T>C (p.Asp1208=) rs55740606 0.00560
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00559
NM_005045.4(RELN):c.621C>T (p.Asp207=) rs114627891 0.00558
NM_000135.4(FANCA):c.1359+10C>T rs34159559 0.00557
NM_004260.4(RECQL4):c.1395G>A (p.Thr465=) rs34948955 0.00557
NM_173689.7(CRB2):c.205C>T (p.Arg69Trp) rs36035964 0.00556
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00555
NM_000540.3(RYR1):c.8068-14C>T rs57376136 0.00554
NM_001109809.5(ZFP57):c.1086T>C (p.Thr362=) rs61730326 0.00553
NM_001109809.5(ZFP57):c.783C>T (p.Cys261=) rs61730328 0.00553
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866 0.00549
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090 0.00548
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107 0.00545
NM_015330.6(SPECC1L):c.1460G>A (p.Arg487His) rs55723436 0.00543
NM_017654.4(SAMD9):c.1347T>C (p.Asn449=) rs150107667 0.00542
NM_022437.3(ABCG8):c.1963A>G (p.Met655Val) rs9282573 0.00542
NM_001143992.2(WRAP53):c.1482A>G (p.Glu494=) rs140360074 0.00540
NM_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp) rs116535684 0.00539
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717 0.00536
NM_000439.5(PCSK1):c.397-10T>C rs142423997 0.00535
NM_001267550.2(TTN):c.42024+6T>C rs140002940 0.00535
NM_017654.4(SAMD9):c.1398A>C (p.Pro466=) rs138066899 0.00533
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_001194998.2(CEP152):c.1909-8G>C rs116089174 0.00531
NM_007137.5(ZNF81):c.470A>G (p.Asn157Ser) rs41312157 0.00531
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_000043.6(FAS):c.369G>A (p.Gln123=) rs28362318 0.00529
NM_145064.3(STAC3):c.1023G>C (p.Ala341=) rs61747067 0.00529
NM_000458.3(HNF1B):c.-178G>A rs148442901 0.00528
NM_001143992.2(WRAP53):c.1641G>T (p.Leu547=) rs146994329 0.00528
NM_173630.4(RTTN):c.6038G>T (p.Cys2013Phe) rs145976466 0.00528
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00527
NM_001008537.3(NEXMIF):c.3798C>T (p.Gly1266=) rs149185175 0.00527
NM_000173.7(GP1BA):c.106A>G (p.Arg36Gly) rs111292798 0.00526
NM_014425.5(INVS):c.740A>G (p.Asn247Ser) rs41312220 0.00526
NM_031483.7(ITCH):c.1146A>G (p.Gln382=) rs141828786 0.00526
NM_014915.2(ANKRD26):c.-184G>T rs527666933 0.00525
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291 0.00524
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) rs141361080 0.00523
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_015634.4(KIFBP):c.1761T>C (p.Pro587=) rs41279644 0.00520
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_001102401.4(TTI2):c.118C>T (p.Pro40Ser) rs78781527 0.00517
NM_001715.3(BLK):c.335T>C (p.Phe112Ser) rs115068920 0.00517
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855 0.00515
NM_001039591.3(USP9X):c.3028-7A>G rs115310559 0.00514
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_024598.4(USB1):c.344G>A (p.Arg115Lys) rs35025252 0.00512
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_007294.4(BRCA1):c.-192T>C rs113323025 0.00510
NM_000525.4(KCNJ11):c.108G>A (p.Val36=) rs112070496 0.00509
NM_001374828.1(ARID1B):c.612A>G (p.Gln204=) rs78253128 0.00509
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031 0.00509
NM_000091.5(COL4A3):c.4380T>C (p.Cys1460=) rs114430490 0.00507
NM_005045.4(RELN):c.6084C>T (p.Gly2028=) rs114019779 0.00507
NM_198252.3(GSN):c.382G>A (p.Val128Met) rs41305623 0.00507
NM_005263.5(GFI1):c.1198C>T (p.Leu400Phe) rs143708376 0.00505
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile) rs61753389 0.00503
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His) rs112010940 0.00503
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824 0.00503
NM_007347.5(AP4E1):c.2755A>G (p.Met919Val) rs115188375 0.00503
NM_020987.5(ANK3):c.13106G>A (p.Arg4369Gln) rs141939315 0.00503
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465 0.00502
NM_001160372.4(TRAPPC9):c.3249C>T (p.Phe1083=) rs112551069 0.00501
NM_001987.5(ETV6):c.602T>C (p.Leu201Pro) rs145477191 0.00501
NM_002519.3(NPAT):c.1506T>G (p.Pro502=) rs61913698 0.00501
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=) rs147404470 0.00501
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_001366110.1(PAX4):c.646-7C>T rs11977988 0.00498
NM_006231.4(POLE):c.1359+9G>A rs75135381 0.00498
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=) rs113282901 0.00497
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970 0.00495
NM_138501.6(TECR):c.813C>T (p.Ser271=) rs141619383 0.00495
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg) rs12327568 0.00494
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu) rs148425392 0.00493
NM_198576.4(AGRN):c.5201G>A (p.Arg1734His) rs145444272 0.00493
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) rs17216670 0.00492
NM_015192.4(PLCB1):c.1167+7T>C rs45466294 0.00492
NM_001378778.1(MPDZ):c.3582T>G (p.Ser1194Arg) rs188840960 0.00490
NM_000377.3(WAS):c.995T>C (p.Val332Ala) rs2737799 0.00489
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_024876.4(COQ8B):c.381G>A (p.Gly127=) rs55895642 0.00488
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_017849.4(TMEM127):c.409+7C>T rs189327749 0.00487
NM_002691.4(POLD1):c.1275C>T (p.Ala425=) rs3219392 0.00486
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr) rs115324397 0.00485
NM_000540.3(RYR1):c.873G>A (p.Ala291=) rs2229140 0.00484
NM_001206999.2(CIT):c.3006C>T (p.Asn1002=) rs79892909 0.00484
NM_005373.3(MPL):c.210G>A (p.Pro70=) rs6086 0.00482
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399 0.00482
NM_001382391.1(CSPP1):c.-121A>G rs181470846 0.00481
NM_003647.3(DGKE):c.35C>T (p.Pro12Leu) rs146866423 0.00481
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=) rs142315727 0.00478
NM_152703.5(SAMD9L):c.1908C>T (p.Pro636=) rs142642466 0.00478
NR_001566.1(TERC):n.228G>A rs141686314 0.00478
NM_016222.4(DDX41):c.*74C>T rs78923296 0.00476
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391 0.00476
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser) rs375160616 0.00475
NM_032444.4(SLX4):c.718A>G (p.Asn240Asp) rs114744903 0.00474
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995 0.00472
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=) rs13285348 0.00471
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser) rs61743977 0.00470
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938 0.00470
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923 0.00468
NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=) rs149633292 0.00468
NM_001199198.3(TBC1D23):c.92G>C (p.Cys31Ser) rs62636640 0.00466
NM_001199198.3(TBC1D23):c.423A>G (p.Pro141=) rs62636641 0.00465
NM_005045.4(RELN):c.5775A>G (p.Arg1925=) rs2711866 0.00464
NM_001364905.1(LRBA):c.3826-5A>G rs114629781 0.00462
NM_017654.4(SAMD9):c.4666G>A (p.Ala1556Thr) rs34896991 0.00462
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_001083961.2(WDR62):c.2334-6C>A rs138928852 0.00461
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00461
NM_002472.3(MYH8):c.3757C>T (p.Arg1253Cys) rs34953692 0.00461
NM_003000.3(SDHB):c.24C>T (p.Ser8=) rs148738139 0.00461
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) rs140374206 0.00461
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119 0.00460
NM_016343.4(CENPF):c.6550G>A (p.Val2184Ile) rs62623663 0.00459
NM_016343.4(CENPF):c.7544A>C (p.Gln2515Pro) rs62636593 0.00459
NM_001291415.2(KDM6A):c.3870T>C (p.Ala1290=) rs142238688 0.00458
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732 0.00458
NM_139027.6(ADAMTS13):c.500C>T (p.Thr167Met) rs141932927 0.00458
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln) rs28363283 0.00457
NM_015922.3(NSDHL):c.25A>G (p.Met9Val) rs35529894 0.00457
NM_003001.5(SDHC):c.354T>C (p.Phe118=) rs61733156 0.00454
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_130839.5(UBE3A):c.2124+9T>C rs79328837 0.00454
NM_002582.4(PARN):c.840+6del rs531994703 0.00452
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=) rs7052858 0.00452
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_006279.5(ST3GAL3):c.636C>T (p.Gly212=) rs12140044 0.00451
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp) rs61744639 0.00451
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304 0.00450
NM_001184.4(ATR):c.1328G>C (p.Arg443Thr) rs28367453 0.00450
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888 0.00450
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_004260.4(RECQL4):c.195C>G (p.Leu65=) rs369163654 0.00449
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916 0.00446
NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val) rs145182838 0.00445
NM_004523.4(KIF11):c.2771-6T>A rs75876570 0.00444
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser) rs73481453 0.00444
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=) rs142351862 0.00444
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser) rs112906840 0.00438
NM_152743.4(BRAT1):c.675C>T (p.Phe225=) rs139443843 0.00438
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222 0.00437
NM_020699.4(GATAD2B):c.1469C>T (p.Ala490Val) rs145131801 0.00437
NM_022437.3(ABCG8):c.1506G>A (p.Pro502=) rs145756111 0.00437
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000781.3(CYP11A1):c.535G>A (p.Val179Ile) rs58174009 0.00436
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030 0.00436
NM_001308093.3(GATA4):c.1224A>C (p.Pro408=) rs7830178 0.00435
NM_005629.4(SLC6A8):c.1768-3C>T rs150207268 0.00435
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634 0.00435
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_004168.4(SDHA):c.969C>T (p.Gly323=) rs142849100 0.00430
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys) rs142993240 0.00430
NM_007294.4(BRCA1):c.*750A>G rs138782023 0.00430
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963 0.00429
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370 0.00429
NM_021922.3(FANCE):c.1572G>A (p.Arg524=) rs115195341 0.00429
NM_017654.4(SAMD9):c.257C>T (p.Ser86Phe) rs147157740 0.00428
NM_004260.4(RECQL4):c.1090G>A (p.Val364Met) rs144637135 0.00427
NM_018136.5(ASPM):c.5741A>G (p.Gln1914Arg) rs113325473 0.00427
NM_000352.4(ABCC8):c.-72G>A rs541244107 0.00426
NM_001371928.1(AHDC1):c.212C>T (p.Thr71Ile) rs199719452 0.00426
NM_182895.5(SCARF2):c.1653C>T (p.Asp551=) rs76472118 0.00426
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_153252.5(BRWD3):c.33G>A (p.Glu11=) rs139071237 0.00422
NM_001377304.1(GFI1B):c.576C>T (p.Phe192=) rs150813342 0.00421
NM_022095.4(ZNF335):c.3507C>T (p.His1169=) rs141812371 0.00420
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=) rs78795178 0.00417
NM_006265.3(RAD21):c.938-11T>C rs200333487 0.00417
NM_006949.4(STXBP2):c.1375C>T (p.Arg459Trp) rs142105943 0.00417
NM_175914.4(HNF4A):c.-278G>A rs112444447 0.00417
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823 0.00417
NM_000208.4(INSR):c.870C>T (p.His290=) rs74483718 0.00416
NM_001715.3(BLK):c.753A>G (p.Gln251=) rs76563369 0.00416
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_001083961.2(WDR62):c.1225A>G (p.Asn409Asp) rs146180912 0.00414
NM_016032.4(ZDHHC9):c.975C>T (p.Ser325=) rs139619000 0.00414
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn) rs148304857 0.00413
NM_001813.3(CENPE):c.1912A>G (p.Lys638Glu) rs114613121 0.00412
NM_018263.6(ASXL2):c.1489G>A (p.Ala497Thr) rs192716734 0.00412
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_173689.7(CRB2):c.1428T>G (p.Thr476=) rs142345530 0.00412
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn) rs34219046 0.00411
NM_178012.5(TUBB2B):c.609C>T (p.Asp203=) rs1054332 0.00411
NM_001099274.3(TINF2):c.1092G>A (p.Leu364=) rs184422577 0.00410
NM_001813.3(CENPE):c.4774A>C (p.Lys1592Gln) rs61756292 0.00410
NM_003901.4(SGPL1):c.1693C>T (p.Pro565Ser) rs77130902 0.00410
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr) rs148772854 0.00409
NM_032415.7(CARD11):c.3019+6C>T rs199705831 0.00408
NM_007137.5(ZNF81):c.1495A>G (p.Ile499Val) rs182239885 0.00407
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) rs112775648 0.00406
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383 0.00405
NM_000383.4(AIRE):c.595G>A (p.Val199Ile) rs74162061 0.00404
NM_004840.3(ARHGEF6):c.362G>A (p.Arg121His) rs35106300 0.00404
NM_201525.4(ADGRG1):c.844G>C (p.Gly282Arg) rs146704802 0.00404
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344 0.00403
NM_005236.3(ERCC4):c.1446A>G (p.Glu482=) rs114077770 0.00403
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
NM_024876.4(COQ8B):c.1347C>T (p.Phe449=) rs142420160 0.00400
NM_030665.4(RAI1):c.1142C>T (p.Ala381Val) rs113208290 0.00400
NM_020822.3(KCNT1):c.116C>T (p.Pro39Leu) rs201051863 0.00399
NM_001040616.3(LINS1):c.718C>T (p.Arg240Trp) rs145145735 0.00398
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867 0.00398
NM_020937.4(FANCM):c.3040G>T (p.Gly1014Cys) rs77532752 0.00398
NM_001378183.1(PIEZO2):c.5819C>A (p.Ala1940Asp) rs116667912 0.00397
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209 0.00396
NM_006420.3(ARFGEF2):c.1512G>A (p.Thr504=) rs116550473 0.00395
NM_203447.4(DOCK8):c.1017G>A (p.Pro339=) rs35746964 0.00395
NM_032322.4(RNF135):c.299A>G (p.His100Arg) rs368080023 0.00394
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=) rs147336902 0.00391
NM_001904.4(CTNNB1):c.2320C>T (p.Leu774=) rs4135386 0.00390
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_012414.4(RAB3GAP2):c.1779+7G>A rs111345353 0.00390
NM_002335.4(LRP5):c.4000+9C>T rs148685646 0.00389
NM_031885.5(BBS2):c.1110T>C (p.Ala370=) rs148990271 0.00389
NM_020831.6(MRTFA):c.2691C>T (p.Leu897=) rs41276311 0.00386
NM_002334.4(LRP4):c.3817C>A (p.Arg1273=) rs61746928 0.00385
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile) rs36095561 0.00385
NM_001374828.1(ARID1B):c.3235+6C>T rs148976215 0.00384
NM_003072.5(SMARCA4):c.2001+8T>G rs112549813 0.00384
NM_000052.7(ATP7A):c.4226+11T>C rs200009243 0.00383
NM_001379110.1(SLC9A6):c.-57+50G>T rs201523857 0.00383
NM_020937.4(FANCM):c.4563A>C (p.Glu1521Asp) rs113986680 0.00382
NM_022437.3(ABCG8):c.1782C>T (p.Ser594=) rs139835626 0.00382
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258 0.00381
NM_001194998.2(CEP152):c.4094-9A>T rs80090788 0.00380
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
NM_022762.5(RMND5B):c.*1670A>T rs200781371 0.00379
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350 0.00379
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526 0.00378
NM_030787.4(CFHR5):c.254-5C>T rs185709089 0.00378
NM_032119.4(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892 0.00378
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354 0.00377
NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser) rs145906515 0.00377
NM_017654.4(SAMD9):c.1920C>T (p.Val640=) rs115425131 0.00377
NM_001195553.2(DCX):c.588T>C (p.Arg196=) rs138706968 0.00376
NM_001364905.1(LRBA):c.2526T>C (p.Phe842=) rs139428189 0.00376
NM_020066.5(FMN2):c.696T>C (p.Pro232=) rs11583501 0.00376
NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro) rs115832709 0.00373
NM_002633.3(PGM1):c.573G>A (p.Ser191=) rs112502842 0.00373
NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val) rs113301547 0.00373
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00372
NM_020937.4(FANCM):c.527C>T (p.Thr176Ile) rs77374493 0.00371
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) rs201593811 0.00370
NM_017838.4(NHP2):c.352G>A (p.Ala118Thr) rs139588879 0.00368
NM_018451.5(CENPJ):c.1233G>A (p.Pro411=) rs112133852 0.00368
NM_001378418.1(TCF20):c.4241C>T (p.Ser1414Leu) rs145553394 0.00367
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_002470.4(MYH3):c.4172+9C>T rs116028239 0.00364
NM_016343.4(CENPF):c.2271T>C (p.His757=) rs111676558 0.00364
NM_016343.4(CENPF):c.4470G>A (p.Leu1490=) rs112985127 0.00364
NM_000760.4(CSF3R):c.1319G>A (p.Arg440Gln) rs3918020 0.00363
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345 0.00363
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00361
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=) rs73810366 0.00361
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg) rs2229860 0.00361
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_014008.5(CCDC22):c.1636G>A (p.Asp546Asn) rs147222955 0.00356
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00354
NM_015192.4(PLCB1):c.582T>C (p.Leu194=) rs150770296 0.00354
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00354
NM_000330.4(RS1):c.184+3118C>T rs139155110 0.00352
NM_001042492.3(NF1):c.4577+12C>T rs17878332 0.00352
NM_005026.5(PIK3CD):c.2820T>C (p.His940=) rs28730679 0.00350
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133 0.00349
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val) rs5744950 0.00346
NM_000330.4(RS1):c.184+3199G>A rs36022183 0.00345
NM_001754.5(RUNX1):c.144C>T (p.Ser48=) rs147889692 0.00344
NM_020987.5(ANK3):c.2322G>C (p.Gly774=) rs138823660 0.00344
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser) rs145110602 0.00343
NM_152383.5(DIS3L2):c.702+10T>G rs184764939 0.00343
NM_006231.4(POLE):c.2468+10C>T rs5744823 0.00342
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106 0.00341
NM_005984.5(SLC25A1):c.894T>C (p.Asp298=) rs144180074 0.00340
NM_001003800.2(BICD2):c.2445G>A (p.Pro815=) rs34451610 0.00337
NM_005546.4(ITK):c.1759G>A (p.Val587Ile) rs56005928 0.00337
NM_139058.3(ARX):c.1074-3T>C rs200700643 0.00337
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_003867.4(FGF17):c.597C>T (p.Gly199=) rs147413881 0.00334
NM_006947.4(SRP72):c.1640+6dup rs572508224 0.00334
NM_014008.5(CCDC22):c.536-7C>T rs191605685 0.00334
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=) rs140922974 0.00333
NM_003922.4(HERC1):c.6549+5T>C rs191410508 0.00332
NM_006031.6(PCNT):c.9720G>A (p.Pro3240=) rs141991283 0.00331
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00331
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020 0.00330
NM_020066.5(FMN2):c.5136T>G (p.Ser1712=) rs143796494 0.00330
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_001129820.2(SLFN14):c.515T>C (p.Val172Ala) rs139678049 0.00329
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=) rs116900568 0.00329
NM_006015.6(ARID1A):c.2541C>A (p.Ile847=) rs151274586 0.00329
NM_020987.5(ANK3):c.10055A>G (p.Glu3352Gly) rs61845768 0.00329
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_012082.4(ZFPM2):c.2287G>A (p.Val763Ile) rs117908591 0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_006734.4(HIVEP2):c.6953C>A (p.Thr2318Lys) rs144732790 0.00327
NM_006087.4(TUBB4A):c.906G>A (p.Ala302=) rs144969662 0.00326
NM_000043.6(FAS):c.550A>G (p.Ile184Val) rs28362322 0.00324
NM_000222.3(KIT):c.1383A>G (p.Thr461=) rs151016327 0.00324
NM_001244008.2(KIF1A):c.183+7C>T rs74469870 0.00324
NM_001048166.1(STIL):c.1055G>A (p.Arg352His) rs141678367 0.00323
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=) rs147210645 0.00323
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg) rs61731464 0.00322
NM_001283009.2(RTEL1):c.396-37C>T rs41297642 0.00322
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe) rs55849827 0.00322
NM_025265.4(TSEN2):c.66A>C (p.Pro22=) rs62637658 0.00322
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_001643.2(APOA2):c.288G>A (p.Gln96=) rs6413454 0.00317
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 0.00316
NM_001363.5(DKC1):c.776A>C (p.His259Pro) rs61757608 0.00316
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_000081.4(LYST):c.6292G>A (p.Ala2098Thr) rs146091043 0.00315
NM_018943.3(TUBA8):c.748G>A (p.Val250Met) rs145621219 0.00314
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400 0.00313
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=) rs142391292 0.00312
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser) rs145727304 0.00312
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val) rs34165480 0.00311
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_007175.8(ERLIN2):c.696G>A (p.Lys232=) rs138164407 0.00311
NM_001374828.1(ARID1B):c.2187C>T (p.Pro729=) rs146240413 0.00310
NM_004656.4(BAP1):c.1002A>G (p.Leu334=) rs28997577 0.00310
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_021008.4(DEAF1):c.825C>T (p.His275=) rs144498322 0.00310
NM_001042492.3(NF1):c.340C>T (p.Leu114=) rs7207410 0.00309
NM_001378778.1(MPDZ):c.1041G>C (p.Leu347Phe) rs34911705 0.00309
NM_019066.5(MAGEL2):c.225G>A (p.Pro75=) rs564216035 0.00309
NM_020987.5(ANK3):c.2889C>T (p.Tyr963=) rs149682716 0.00309
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546 0.00307
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987 0.00307
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_181741.4(ORC4):c.857C>T (p.Ala286Val) rs75002266 0.00307
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391 0.00306
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_000383.4(AIRE):c.1116G>A (p.Ser372=) rs61737006 0.00304
NM_004304.5(ALK):c.2268C>T (p.Gly756=) rs149853746 0.00304
NM_004656.4(BAP1):c.1026C>T (p.Ser342=) rs71651686 0.00304
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706 0.00304
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906 0.00302
NM_025074.7(FRAS1):c.6301C>T (p.His2101Tyr) rs183398121 0.00302
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val) rs149011965 0.00302
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=) rs147524531 0.00301
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_001715.3(BLK):c.713G>A (p.Arg238Gln) rs141865425 0.00300
NM_020937.4(FANCM):c.5577T>C (p.Asn1859=) rs113831595 0.00300
NM_004655.4(AXIN2):c.1530G>A (p.Thr510=) rs141014640 0.00299
NM_025077.4(TOE1):c.-45G>A rs2275602 0.00299
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_003482.4(KMT2D):c.13644C>T (p.Ser4548=) rs201119371 0.00297
NM_021922.3(FANCE):c.1510-11C>T rs189384185 0.00297
NM_198576.4(AGRN):c.1993G>A (p.Glu665Lys) rs143324306 0.00297
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=) rs13440710 0.00296
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_001848.3(COL6A1):c.1612-6C>T rs143812383 0.00296
NM_002691.4(POLD1):c.783C>T (p.Val261=) rs34269084 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00295
NM_004364.5(CEBPA):c.402G>A (p.Ala134=) rs752254340 0.00295
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00293
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=) rs61733871 0.00293
NM_004933.3(CDH15):c.387A>G (p.Gly129=) rs147301479 0.00293
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_012156.2(EPB41L1):c.1643A>G (p.Lys548Arg) rs144426436 0.00293
NM_000142.5(FGFR3):c.393G>A (p.Ser131=) rs55662109 0.00292
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_017757.3(ZNF407):c.427G>T (p.Val143Phe) rs200158544 0.00291
NM_173560.4(RFX6):c.985G>A (p.Val329Ile) rs139343836 0.00291
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236 0.00290
NM_002968.3(SALL1):c.1904C>T (p.Pro635Leu) rs146454164 0.00290
NM_012082.4(ZFPM2):c.1276G>A (p.Ala426Thr) rs35843564 0.00290
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575 0.00288
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_004260.4(RECQL4):c.3058G>A (p.Val1020Met) rs114149451 0.00287
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598 0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694 0.00287
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439 0.00286
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_004629.2(FANCG):c.640C>T (p.Arg214Cys) rs61757385 0.00285
NM_030962.4(SBF2):c.4693A>G (p.Ile1565Val) rs115345208 0.00285
NM_152703.5(SAMD9L):c.3285A>G (p.Lys1095=) rs79858266 0.00285
NM_001987.5(ETV6):c.1075C>A (p.Arg359=) rs141938078 0.00284
NM_019066.5(MAGEL2):c.2784C>T (p.Ile928=) rs189752384 0.00284
NM_021008.4(DEAF1):c.727A>G (p.Met243Val) rs71469813 0.00284
NM_000135.4(FANCA):c.3591G>A (p.Leu1197=) rs55773634 0.00282
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563 0.00281
NM_007315.4(STAT1):c.1155G>A (p.Thr385=) rs41270237 0.00280
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe) rs186745328 0.00280
NM_007118.4(TRIO):c.8831A>G (p.Asn2944Ser) rs143213427 0.00279
NM_017721.5(CC2D1A):c.2088A>G (p.Lys696=) rs73925404 0.00279
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) rs192386572 0.00278
NM_018136.5(ASPM):c.9444+8T>G rs140150599 0.00278
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_004991.4(MECOM):c.822T>C (p.Asp274=) rs142578153 0.00277
NM_014795.4(ZEB2):c.489C>T (p.Ile163=) rs138859323 0.00277
NM_001377304.1(GFI1B):c.148T>C (p.Phe50Leu) rs139685732 0.00276
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_006910.5(RBBP6):c.3545G>A (p.Arg1182His) rs116616570 0.00275
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902 0.00274
NM_000686.5(AGTR2):c.62G>T (p.Gly21Val) rs121917810 0.00274
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) rs71530911 0.00274
NM_016373.4(WWOX):c.1134C>T (p.Asn378=) rs201088847 0.00274
NM_032806.6(POMGNT2):c.364G>A (p.Val122Met) rs149948290 0.00274
NM_030773.4(TUBB1):c.396C>G (p.Gly132=) rs61757565 0.00273
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=) rs150388417 0.00272
NM_001283009.2(RTEL1):c.3693G>A (p.Thr1231=) rs181080831 0.00272
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu) rs111866410 0.00271
NM_004153.4(ORC1):c.2226C>A (p.Ser742=) rs34644009 0.00271
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_001626.6(AKT2):c.93C>T (p.Ser31=) rs35588791 0.00270
NM_017721.5(CC2D1A):c.2440G>T (p.Ala814Ser) rs56359259 0.00270
NM_024426.6(WT1):c.181C>A (p.Arg61=) rs2234581 0.00270
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00269
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845 0.00269
NM_000038.6(APC):c.4893T>C (p.Ser1631=) rs35634377 0.00268
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_020937.4(FANCM):c.2749A>G (p.Ile917Val) rs148871932 0.00268
NM_000314.8(PTEN):c.-165C>G rs575260016 0.00267
NM_033022.4(RPS24):c.168T>C (p.Phe56=) rs57866839 0.00267
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_032638.5(GATA2):c.66C>G (p.Pro22=) rs113384352 0.00264
NM_001080414.4(CCDC88C):c.5654G>A (p.Arg1885His) rs61742126 0.00262
NM_001126049.2(KLLN):c.382C>G (p.Arg128Gly) rs201652303 0.00262
NM_019066.5(MAGEL2):c.2886C>T (p.Ser962=) rs2233068 0.00262
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly) rs80207011 0.00261
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp) rs111673705 0.00260
NM_014915.3(ANKRD26):c.1747C>G (p.Gln583Glu) rs56151272 0.00260
NM_014915.3(ANKRD26):c.2584C>G (p.Gln862Glu) rs74128547 0.00260
NM_004168.4(SDHA):c.1413C>T (p.Ile471=) rs34779890 0.00259
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015 0.00258
NM_001113378.2(FANCI):c.3255+6dup rs878854178 0.00258
NM_001429.4(EP300):c.5814G>A (p.Thr1938=) rs112948044 0.00258
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111 0.00258
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) rs139814895 0.00257
NM_001374828.1(ARID1B):c.318G>A (p.Ala106=) rs533182720 0.00257
NM_002303.6(LEPR):c.3417A>G (p.Ala1139=) rs61781316 0.00257
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=) rs55992440 0.00257
NM_005739.4(RASGRP1):c.1548C>T (p.Leu516=) rs61759869 0.00257
NM_030665.4(RAI1):c.610C>T (p.Pro204Ser) rs138332224 0.00257
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927 0.00256
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037 0.00256
NM_000361.3(THBD):c.127G>A (p.Ala43Thr) rs1800576 0.00255
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018 0.00255
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968 0.00253
NM_018136.5(ASPM):c.9996T>C (p.Thr3332=) rs139927527 0.00253
NM_003355.3(UCP2):c.227G>A (p.Arg76Gln) rs45541732 0.00252
NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp) rs118031800 0.00251
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832 0.00249
NM_000276.4(OCRL):c.439+3A>G rs61752971 0.00248
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933 0.00248
NM_006009.4(TUBA1A):c.966C>T (p.Asp322=) rs142641191 0.00248
NM_001080517.3(SETD5):c.4115C>T (p.Thr1372Ile) rs62246321 0.00247
NM_003467.3(CXCR4):c.783C>T (p.Ile261=) rs148279552 0.00246
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_000553.6(WRN):c.970A>G (p.Thr324Ala) rs1800390 0.00245
NM_004752.4(GCM2):c.157G>A (p.Asp53Asn) rs11963186 0.00245
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_018249.6(CDK5RAP2):c.5578T>C (p.Leu1860=) rs77100552 0.00243
NM_002291.3(LAMB1):c.2113G>C (p.Val705Leu) rs34150332 0.00242
NM_006031.6(PCNT):c.9274-3C>T rs200348425 0.00242
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=) rs113955216 0.00241
NM_012082.4(ZFPM2):c.2501A>G (p.Lys834Arg) rs113289249 0.00241
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu) rs147106995 0.00240
NM_002435.3(MPI):c.303C>T (p.Leu101=) rs139228075 0.00240
NM_001379110.1(SLC9A6):c.1460+4A>G rs180727016 0.00239
NM_002578.5(PAK3):c.531G>A (p.Glu177=) rs56270341 0.00239
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814 0.00239
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00238
NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=) rs202085637 0.00238
NM_022895.3(C12orf43):c.*2956C>T rs112986697 0.00237
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023 0.00236
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
NM_002519.3(NPAT):c.3646A>G (p.Asn1216Asp) rs189775078 0.00234
NM_001017975.6(HFM1):c.2308G>A (p.Asp770Asn) rs143399622 0.00233
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=) rs547268941 0.00233
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559 0.00233
NM_015107.3(PHF8):c.2720G>A (p.Arg907His) rs142630105 0.00233
NM_015330.6(SPECC1L):c.2882C>T (p.Ala961Val) rs5996694 0.00233
NM_000545.8(HNF1A):c.1425G>A (p.Pro475=) rs145589373 0.00232
NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val) rs56180593 0.00232
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_004752.4(GCM2):c.168G>C (p.Lys56Asn) rs11963184 0.00230
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=) rs149172723 0.00230
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_000458.4(HNF1B):c.444G>A (p.Ser148=) rs147218489 0.00228
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_006118.4(HAX1):c.207A>T (p.Pro69=) rs142150013 0.00228
NM_014159.7(SETD2):c.2783C>G (p.Thr928Arg) rs72895708 0.00228
NM_032638.5(GATA2):c.333C>T (p.His111=) rs148554346 0.00228
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_004260.4(RECQL4):c.891C>T (p.Asp297=) rs34700133 0.00227
NM_000064.4(C3):c.4100T>C (p.Ile1367Thr) rs11569541 0.00226
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295 0.00224
NM_001101362.3(KBTBD13):c.1077A>G (p.Gly359=) rs199526404 0.00224
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp) rs145529594 0.00224
NM_198253.3(TERT):c.969G>A (p.Pro323=) rs148549782 0.00224
NM_152703.5(SAMD9L):c.1503A>G (p.Arg501=) rs75446743 0.00223
NM_005271.5(GLUD1):c.909A>C (p.Thr303=) rs113997422 0.00222
NM_005343.4(HRAS):c.477G>A (p.Leu159=) rs140060409 0.00222
NM_005359.6(SMAD4):c.1140-10T>C rs186332162 0.00221
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155 0.00220
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_001145306.2(CDK6):c.949A>T (p.Ser317Cys) rs140409009 0.00218
NM_004972.4(JAK2):c.3323A>G (p.Asn1108Ser) rs142269166 0.00218
NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala) rs151105762 0.00218
NM_177438.3(DICER1):c.485G>A (p.Gly162Asp) rs142815547 0.00218
NM_014915.3(ANKRD26):c.2679A>G (p.Gln893=) rs61730098 0.00215
NM_001014.5(RPS10):c.408C>T (p.Ala136=) rs147566753 0.00213
NM_001040616.3(LINS1):c.2119G>A (p.Gly707Arg) rs74039425 0.00213
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436 0.00213
NM_203447.4(DOCK8):c.1582C>A (p.Leu528Met) rs146250176 0.00213
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=) rs144520412 0.00211
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616 0.00210
NM_001458.5(FLNC):c.2507C>A (p.Pro836Gln) rs199652368 0.00207
NM_000834.5(GRIN2B):c.3552C>T (p.Gly1184=) rs141886903 0.00206
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met) rs144900277 0.00206
NM_152703.5(SAMD9L):c.3027T>C (p.Cys1009=) rs149908158 0.00205
NM_001191061.2(SLC25A22):c.169G>A (p.Val57Ile) rs150242281 0.00204
NM_004260.4(RECQL4):c.565G>A (p.Gly189Ser) rs34371341 0.00204
NM_015559.3(SETBP1):c.4640C>A (p.Thr1547Asn) rs201973930 0.00204
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu) rs149478199 0.00203
NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln) rs140565291 0.00202
NM_015080.4(NRXN2):c.3213C>G (p.Leu1071=) rs139264192 0.00202
NM_001354604.2(MITF):c.366C>T (p.His122=) rs140663277 0.00201
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_001754.5(RUNX1):c.303G>T (p.Val101=) rs142472642 0.00200
NM_003072.5(SMARCA4):c.4768+10G>A rs201665695 0.00200
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn) rs114314967 0.00198
NM_181303.2(NLGN3):c.1954A>G (p.Thr652Ala) rs144914894 0.00197
NM_006015.6(ARID1A):c.318C>T (p.Asn106=) rs551186176 0.00196
NM_022455.5(NSD1):c.2295C>T (p.Asn765=) rs146767413 0.00196
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011 0.00195
NM_003482.4(KMT2D):c.5220C>T (p.Ala1740=) rs200369026 0.00195
NM_014008.5(CCDC22):c.715G>A (p.Glu239Lys) rs199809018 0.00195
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) rs150553044 0.00194
NM_024675.4(PALB2):c.2256A>G (p.Gly752=) rs147120218 0.00193
NM_024757.5(EHMT1):c.480C>T (p.Gly160=) rs150135875 0.00193
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_014915.3(ANKRD26):c.40G>A (p.Gly14Ser) rs201068693 0.00192
NM_001374828.1(ARID1B):c.2286G>A (p.Thr762=) rs6912981 0.00191
NM_014159.7(SETD2):c.4320A>T (p.Pro1440=) rs74485823 0.00191
NM_001040142.2(SCN2A):c.5910G>A (p.Thr1970=) rs75057869 0.00190
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_000381.4(MID1):c.588C>G (p.Ala196=) rs41303167 0.00189
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) rs61749711 0.00189
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
NM_014915.3(ANKRD26):c.1133A>G (p.Glu378Gly) rs186243874 0.00188
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_001080467.3(MYO5B):c.2343G>C (p.Lys781Asn) rs61737448 0.00187
NM_002473.6(MYH9):c.165C>T (p.Ile55=) rs141948797 0.00187
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823 0.00187
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015 0.00186
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_003611.3(OFD1):c.1654+8A>G rs200767363 0.00184
NM_001382391.1(CSPP1):c.965A>G (p.His322Arg) rs141389465 0.00183
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=) rs142611198 0.00183
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_001370259.2(MEN1):c.597C>T (p.His199=) rs150512958 0.00181
NM_173495.3(PTCHD1):c.657C>T (p.Asn219=) rs144982584 0.00181
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_020738.4(KIDINS220):c.3586-7T>C rs139887022 0.00180
NM_177438.3(DICER1):c.1825G>T (p.Asp609Tyr) rs114947750 0.00180
NM_001018115.3(FANCD2):c.4281+115C>A rs78896323 0.00179
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501 0.00179
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) rs143944746 0.00178
NM_020699.4(GATAD2B):c.1229C>G (p.Ala410Gly) rs114542403 0.00178
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 0.00175
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_152703.5(SAMD9L):c.2127T>C (p.Phe709=) rs7792360 0.00173
NM_004991.4(MECOM):c.1707C>A (p.Pro569=) rs141081950 0.00172
NM_020320.5(RARS2):c.155A>T (p.Lys52Ile) rs73496064 0.00172
NM_015450.3(POT1):c.751A>G (p.Met251Val) rs148397357 0.00171
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile) rs112829587 0.00171
NM_020717.5(SHROOM4):c.2192A>G (p.Glu731Gly) rs144727288 0.00169
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_014953.5(DIS3):c.1394A>G (p.Lys465Arg) rs41286058 0.00168
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=) rs61746542 0.00167
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546 0.00166
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln) rs146263125 0.00166
NM_004656.4(BAP1):c.1268C>A (p.Thr423Lys) rs115109161 0.00166
NM_005188.4(CBL):c.2484G>A (p.Pro828=) rs149533467 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000214.3(JAG1):c.2301G>A (p.Thr767=) rs147634857 0.00165
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00165
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623 0.00163
NM_001348800.3(ZBTB20):c.2078C>T (p.Ala693Val) rs150974347 0.00163
NM_001848.3(COL6A1):c.2517C>T (p.Ser839=) rs141463437 0.00163
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423 0.00163
NM_012156.2(EPB41L1):c.726C>T (p.Phe242=) rs142551778 0.00163
NM_001194998.2(CEP152):c.3313C>G (p.Leu1105Val) rs74553953 0.00162
NM_020738.4(KIDINS220):c.3459C>T (p.Gly1153=) rs199913532 0.00162
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe) rs142007602 0.00161
NM_005357.4(LIPE):c.280G>A (p.Ala94Thr) rs145456377 0.00160
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00159
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_007118.4(TRIO):c.6914G>A (p.Gly2305Asp) rs552613615 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
NM_002470.4(MYH3):c.252G>A (p.Lys84=) rs147410236 0.00156
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623 0.00156
NM_000552.5(VWF):c.1728G>T (p.Met576Ile) rs150146744 0.00155
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491 0.00155
NM_017654.4(SAMD9):c.4102G>A (p.Glu1368Lys) rs138600971 0.00155
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436 0.00155
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727 0.00154
NM_001904.4(CTNNB1):c.1023C>T (p.Ser341=) rs34343353 0.00154
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_001903.5(CTNNA1):c.536C>T (p.Ala179Val) rs28363394 0.00153
NM_012301.4(MAGI2):c.2213G>A (p.Arg738Gln) rs145722885 0.00153
NM_016495.6(TBC1D7):c.678A>G (p.Lys226=) rs17768021 0.00153
NM_020461.4(TUBGCP6):c.4223C>T (p.Ala1408Val) rs142798996 0.00153
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser) rs143885622 0.00152
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774 0.00151
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp) rs35155575 0.00151
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_001551.3(IGBP1):c.317G>A (p.Arg106Gln) rs143163513 0.00150
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569 0.00149
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_007137.5(ZNF81):c.417A>G (p.Ile139Met) rs189835360 0.00148
NM_016222.4(DDX41):c.1233G>A (p.Glu411=) rs147023941 0.00148
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844 0.00147
NM_019066.5(MAGEL2):c.853G>A (p.Gly285Arg) rs143908070 0.00147
NM_020937.4(FANCM):c.1041G>A (p.Pro347=) rs140998495 0.00147
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr) rs140868933 0.00146
NM_002582.4(PARN):c.1741G>A (p.Gly581Arg) rs75007073 0.00146
NM_005732.4(RAD50):c.379G>A (p.Val127Ile) rs28903086 0.00146
NM_001184.4(ATR):c.4576A>G (p.Ile1526Val) rs34124242 0.00145
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_018341.3(ERMARD):c.1246G>A (p.Val416Ile) rs143351214 0.00145
NM_152703.5(SAMD9L):c.4170G>A (p.Leu1390=) rs143928644 0.00145
NM_030962.4(SBF2):c.2337C>T (p.Ser779=) rs140730386 0.00144
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_004380.3(CREBBP):c.4133+19T>C rs202204380 0.00143
NM_024675.4(PALB2):c.2742C>T (p.Phe914=) rs115759702 0.00143
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609 0.00142
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752 0.00142
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473 0.00141
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys) rs41304587 0.00141
NM_144508.5(KNL1):c.4170T>A (p.Asp1390Glu) rs141726041 0.00141
NM_152703.5(SAMD9L):c.1696G>A (p.Ala566Thr) rs143593856 0.00141
NM_000540.3(RYR1):c.11141+7A>G rs78350770 0.00140
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_001349338.3(FOXP1):c.1709A>G (p.Asn570Ser) rs140161845 0.00140
NM_019066.5(MAGEL2):c.3657G>A (p.Ala1219=) rs140288382 0.00140
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687 0.00138
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln) rs34932223 0.00138
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe) rs35984312 0.00138
NM_014915.3(ANKRD26):c.4259G>A (p.Cys1420Tyr) rs146159734 0.00138
NM_020975.6(RET):c.654G>A (p.Pro218=) rs137928436 0.00138
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) rs199802825 0.00136
NM_025099.6(CTC1):c.2478A>G (p.Thr826=) rs200643329 0.00136
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378 0.00135
NM_002691.4(POLD1):c.2007-4G>A rs202035484 0.00135
NM_014467.3(SRPX2):c.1373G>A (p.Arg458Gln) rs146051561 0.00133
NM_022455.5(NSD1):c.2835T>C (p.Ser945=) rs145987330 0.00133
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His) rs5217 0.00131
NM_001366110.1(PAX4):c.636C>T (p.Asp212=) rs141407429 0.00131
NM_014159.7(SETD2):c.3567C>T (p.Thr1189=) rs140803915 0.00131
NM_018341.3(ERMARD):c.1480C>G (p.Arg494Gly) rs144908519 0.00131
NM_020831.6(MRTFA):c.1993G>A (p.Ala665Thr) rs72655385 0.00129
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_004655.4(AXIN2):c.1952C>T (p.Ser651Leu) rs74006838 0.00128
NM_203447.4(DOCK8):c.5010G>A (p.Ala1670=) rs142208336 0.00128
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001110556.2(FLNA):c.6023-10C>G rs72616474 0.00127
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala) rs151043891 0.00127
NM_004523.4(KIF11):c.2044C>G (p.Leu682Val) rs141856144 0.00126
NM_005249.5(FOXG1):c.447C>T (p.Ala149=) rs112803404 0.00126
NM_000439.5(PCSK1):c.1197-9C>T rs200973203 0.00125
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165 0.00125
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316 0.00125
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_002472.3(MYH8):c.1209C>A (p.Cys403Ter) rs144321381 0.00124
NM_003482.4(KMT2D):c.9726C>T (p.Ala3242=) rs183688784 0.00124
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405 0.00124
NM_015330.6(SPECC1L):c.1542G>A (p.Gln514=) rs139026931 0.00124
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr) rs148790687 0.00123
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_030665.4(RAI1):c.840G>A (p.Gln280=) rs398124421 0.00123
NM_003179.3(SYP):c.877G>A (p.Gly293Ser) rs139475570 0.00122
NM_005068.3(SIM1):c.383T>C (p.Ile128Thr) rs138546433 0.00122
NM_000534.5(PMS1):c.2283T>C (p.Leu761=) rs150341545 0.00121
NM_001291303.3(FAT4):c.12479+8G>A rs150505878 0.00121
NM_012452.3(TNFRSF13B):c.415T>C (p.Leu139=) rs141494621 0.00121
NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys) rs202081612 0.00121
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00121
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=) rs61747281 0.00120
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439 0.00119
NM_001349338.3(FOXP1):c.643C>G (p.Pro215Ala) rs146606219 0.00118
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_005026.5(PIK3CD):c.436T>A (p.Phe146Ile) rs142285826 0.00117
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091 0.00116
NM_000545.6(HNF1A):c.-527C>T rs3809315 0.00115
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu) rs61735813 0.00115
NM_016222.4(DDX41):c.1354C>T (p.Leu452=) rs143421709 0.00115
NM_139276.3(STAT3):c.551-4G>A rs80162032 0.00115
NM_002768.5(CHMP1A):c.51G>A (p.Lys17=) rs187184327 0.00114
NM_030665.4(RAI1):c.972G>A (p.Pro324=) rs138675466 0.00113
NM_006015.6(ARID1A):c.5336A>G (p.Glu1779Gly) rs140946580 0.00112
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_004586.3(RPS6KA3):c.139A>G (p.Ile47Val) rs140987045 0.00109
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194 0.00108
NM_002067.5(GNA11):c.189C>T (p.His63=) rs61731116 0.00108
NM_003070.5(SMARCA2):c.1122C>G (p.Thr374=) rs138404604 0.00108
NM_001282531.3(ADNP):c.2943G>T (p.Val981=) rs143103063 0.00107
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_020717.5(SHROOM4):c.266G>A (p.Arg89Lys) rs148911180 0.00105
NM_020717.5(SHROOM4):c.4066G>A (p.Val1356Ile) rs137923286 0.00105
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291 0.00105
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437 0.00104
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_001005361.3(DNM2):c.2061G>A (p.Thr687=) rs149164657 0.00102
NM_001082486.2(ACD):c.132C>T (p.Gly44=) rs138527794 0.00102
NM_014467.3(SRPX2):c.481C>A (p.Arg161=) rs150552508 0.00101
NM_181332.3(NLGN4X):c.591C>T (p.Ile197=) rs149003627 0.00101
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=) rs148700620 0.00099
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_015450.3(POT1):c.1022A>G (p.Gln341Arg) rs554325914 0.00098
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077 0.00097
NM_001282531.3(ADNP):c.3279C>T (p.Ala1093=) rs142247083 0.00097
NM_001318510.2(ACSL4):c.806+3A>G rs183171123 0.00097
NM_001080517.3(SETD5):c.2544T>G (p.Leu848=) rs147128913 0.00096
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) rs146402942 0.00096
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met) rs146492238 0.00096
NM_012156.2(EPB41L1):c.111C>T (p.His37=) rs140731421 0.00095
NM_020717.5(SHROOM4):c.1053C>A (p.Ser351Arg) rs59595864 0.00095
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=) rs142126065 0.00095
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861 0.00095
NM_139276.3(STAT3):c.1329C>T (p.Thr443=) rs147955721 0.00091
NM_152703.5(SAMD9L):c.3567T>C (p.Tyr1189=) rs139124790 0.00091
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005 0.00088
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00088
NM_001349338.3(FOXP1):c.1413A>G (p.Ala471=) rs144080925 0.00088
NM_006015.6(ARID1A):c.472C>T (p.Pro158Ser) rs567246585 0.00088
NM_020822.3(KCNT1):c.1134C>T (p.Val378=) rs149960236 0.00088
NM_020822.3(KCNT1):c.3157-8C>T rs371874401 0.00088
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622 0.00087
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830 0.00087
NM_015080.4(NRXN2):c.3757+9C>T rs376552947 0.00086
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=) rs112837367 0.00085
NM_005026.5(PIK3CD):c.1815C>T (p.Asp605=) rs115808092 0.00085
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=) rs146054214 0.00085
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415 0.00084
NM_005045.4(RELN):c.7111G>A (p.Ala2371Thr) rs79377093 0.00084
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=) rs147623093 0.00083
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_002894.3(RBBP8):c.109+6A>G rs149189755 0.00083
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn) rs61736899 0.00083
NM_006005.3(WFS1):c.966C>T (p.His322=) rs140196582 0.00083
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys) rs200461412 0.00083
NM_198253.3(TERT):c.1849C>T (p.Leu617=) rs140951453 0.00083
NM_000545.8(HNF1A):c.1107+9C>G rs17847497 0.00081
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_001372044.2(SHANK3):c.4118G>A (p.Arg1373Lys) rs201483867 0.00081
NM_003356.4(UCP3):c.155C>T (p.Thr52Met) rs17848367 0.00081
NM_006420.3(ARFGEF2):c.1398T>C (p.Phe466=) rs141596938 0.00081
NM_018341.3(ERMARD):c.241C>T (p.His81Tyr) rs137971039 0.00081
NM_001101.5(ACTB):c.762G>C (p.Arg254=) rs145818896 0.00080
NM_001110792.2(MECP2):c.*9G>A rs144008995 0.00080
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_006009.4(TUBA1A):c.226+10C>T rs199717430 0.00078
NM_014795.4(ZEB2):c.798G>C (p.Gly266=) rs34961586 0.00078
NM_032444.4(SLX4):c.2786C>T (p.Pro929Leu) rs117707719 0.00078
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly) rs17848880 0.00077
NM_007294.4(BRCA1):c.-86C>T rs143160357 0.00077
NM_001384732.1(CPLANE1):c.1883G>A (p.Arg628Lys) rs74975451 0.00076
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653 0.00076
NM_003482.4(KMT2D):c.3737C>T (p.Thr1246Met) rs112921115 0.00076
NM_030665.4(RAI1):c.3357C>T (p.Ser1119=) rs139448147 0.00076
NM_013328.4(PYCR2):c.924C>G (p.Leu308=) rs181648767 0.00075
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=) rs151335428 0.00074
NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val) rs41304731 0.00074
NM_004523.4(KIF11):c.2512A>C (p.Asn838His) rs34647366 0.00074
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_014423.4(AFF4):c.830G>C (p.Ser277Thr) rs141068875 0.00073
NM_024757.5(EHMT1):c.251G>A (p.Gly84Asp) rs142887098 0.00073
NM_030665.4(RAI1):c.4526A>G (p.Gln1509Arg) rs140063274 0.00073
NM_019066.5(MAGEL2):c.2290G>A (p.Ala764Thr) rs201984254 0.00072
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203 0.00071
NM_001374828.1(ARID1B):c.2548G>A (p.Ala850Thr) rs147784000 0.00071
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met) rs61749720 0.00070
NM_001128126.3(AP4S1):c.306+42G>A rs74807133 0.00070
NM_013275.6(ANKRD11):c.2519G>A (p.Arg840Gln) rs149776253 0.00070
NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu) rs34521483 0.00070
NM_001040142.2(SCN2A):c.5757C>T (p.Tyr1919=) rs140417984 0.00069
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_032793.5(MFSD2A):c.630G>A (p.Thr210=) rs142303528 0.00069
NM_003482.4(KMT2D):c.4525A>G (p.Ile1509Val) rs200943206 0.00068
NM_020975.6(RET):c.1465G>A (p.Asp489Asn) rs9282834 0.00068
NM_022552.5(DNMT3A):c.2151C>T (p.Asn717=) rs141216815 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser) rs143244149 0.00067
NM_004991.4(MECOM):c.2590G>A (p.Asp864Asn) rs75041628 0.00067
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499 0.00066
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063 0.00065
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_022552.5(DNMT3A):c.72+10G>A rs370534287 0.00064
NM_181303.2(NLGN3):c.807C>T (p.Ser269=) rs151276700 0.00064
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=) rs2229062 0.00063
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys) rs149243307 0.00063
NM_003482.4(KMT2D):c.15540G>C (p.Val5180=) rs149393179 0.00063
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389 0.00063
NM_198252.3(GSN):c.1663G>A (p.Val555Met) rs151208452 0.00063
NM_005249.5(FOXG1):c.489C>T (p.Gly163=) rs375378714 0.00062
NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=) rs371737085 0.00061
NM_001807.6(CEL):c.54G>A (p.Ala18=) rs539606155 0.00061
NM_006565.4(CTCF):c.2139C>T (p.Asn713=) rs146712579 0.00061
NM_030632.3(ASXL3):c.2731G>A (p.Val911Met) rs201107680 0.00061
NM_001415.4(EIF2S3):c.133+8T>C rs377239918 0.00060
NM_006015.6(ARID1A):c.3762C>T (p.Gly1254=) rs138814830 0.00060
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480 0.00059
NM_006772.3(SYNGAP1):c.3324C>T (p.Ser1108=) rs139841529 0.00059
NM_018249.6(CDK5RAP2):c.2289C>T (p.His763=) rs36001459 0.00059
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_001374828.1(ARID1B):c.1534A>G (p.Met512Val) rs199948752 0.00058
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys) rs149127230 0.00058
NM_014444.5(TUBGCP4):c.967G>T (p.Val323Leu) rs191224065 0.00057
NM_000059.4(BRCA2):c.2145A>G (p.Gly715=) rs112566179 0.00056
NM_001029.5(RPS26):c.-3A>G rs181174349 0.00056
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) rs148246073 0.00056
NM_005491.5(MAMLD1):c.1699C>T (p.Pro567Ser) rs146443503 0.00056
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp) rs117173425 0.00056
NM_030632.3(ASXL3):c.5001T>G (p.Pro1667=) rs377152896 0.00056
NM_000152.5(GAA):c.858+8G>A rs5822325 0.00055
NM_000038.6(APC):c.2476T>G (p.Leu826Val) rs145245264 0.00054
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_022436.3(ABCG5):c.1806C>T (p.Phe602=) rs150716811 0.00052
NM_000038.6(APC):c.3963C>T (p.Ser1321=) rs150595875 0.00051
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_002875.5(RAD51):c.164C>T (p.Ala55Val) rs145617142 0.00051
NM_006180.6(NTRK2):c.31G>T (p.Ala11Ser) rs78936193 0.00051
NM_007327.4(GRIN1):c.1513C>T (p.Leu505=) rs139637382 0.00051
NM_032531.4(KIRREL3):c.870C>A (p.Ile290=) rs200243864 0.00051
NM_000142.5(FGFR3):c.1023G>A (p.Ala341=) rs147833498 0.00050
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=) rs2285895 0.00050
NM_004656.4(BAP1):c.501G>A (p.Ala167=) rs148631953 0.00050
NM_004525.3(LRP2):c.13610A>C (p.Gln4537Pro) rs188918037 0.00049
NM_019066.5(MAGEL2):c.1404C>A (p.Ala468=) rs2233064 0.00049
NM_001330288.2(SMARCC2):c.1158A>G (p.Glu386=) rs34308410 0.00048
NM_001368397.1(FRMPD4):c.1218G>A (p.Lys406=) rs140428359 0.00048
NM_001378778.1(MPDZ):c.2914C>T (p.Pro972Ser) rs186662317 0.00048
NM_006947.4(SRP72):c.1589T>C (p.Ile530Thr) rs192401229 0.00048
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035 0.00048
NM_173495.3(PTCHD1):c.1494C>T (p.Thr498=) rs138676073 0.00048
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=) rs147253810 0.00047
NM_003482.4(KMT2D):c.1149C>T (p.Asp383=) rs201709328 0.00047
NM_004523.4(KIF11):c.2775G>A (p.Thr925=) rs138462002 0.00047
NM_006565.4(CTCF):c.1887C>T (p.Ala629=) rs149766428 0.00047
NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu) rs145650484 0.00047
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=) rs192953152 0.00046
NM_003383.5(VLDLR):c.71C>A (p.Ala24Asp) rs754340855 0.00046
NM_005045.4(RELN):c.7114G>A (p.Val2372Met) rs114344654 0.00046
NM_002691.4(POLD1):c.653G>A (p.Arg218His) rs150010804 0.00045
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_012156.2(EPB41L1):c.1539G>A (p.Glu513=) rs45588736 0.00045
NM_175914.5(HNF4A):c.999C>T (p.Ile333=) rs150247632 0.00045
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=) rs150269172 0.00043
NM_001127208.3(TET2):c.2385C>T (p.Ser795=) rs112576862 0.00043
NM_001130969.3(NSMF):c.1401G>A (p.Gly467=) rs199663813 0.00043
NM_003482.4(KMT2D):c.2052T>A (p.Pro684=) rs200116899 0.00043
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser) rs199814669 0.00042
NM_013275.6(ANKRD11):c.5481C>G (p.Pro1827=) rs142469039 0.00041
NM_032444.4(SLX4):c.4494G>A (p.Leu1498=) rs146532299 0.00041
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=) rs544247912 0.00040
NM_003482.4(KMT2D):c.6235-6C>G rs373858319 0.00040
NM_178012.5(TUBB2B):c.602G>C (p.Cys201Ser) rs201922441 0.00040
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991 0.00039
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_003482.4(KMT2D):c.7954A>C (p.Met2652Leu) rs147706410 0.00038
NM_006015.6(ARID1A):c.5076C>T (p.Asn1692=) rs149468118 0.00038
NM_032444.4(SLX4):c.231A>G (p.Gln77=) rs143279888 0.00038
NM_001987.5(ETV6):c.496G>A (p.Val166Met) rs142603082 0.00037
NM_014915.3(ANKRD26):c.4490T>A (p.Val1497Asp) rs149647444 0.00037
NM_031466.8(TRAPPC9):c.-135A>G rs148523016 0.00037
NM_005629.4(SLC6A8):c.1516G>A (p.Asp506Asn) rs201526436 0.00036
NM_014795.4(ZEB2):c.1276T>A (p.Leu426Ile) rs201881288 0.00036
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011 0.00036
NM_021008.4(DEAF1):c.855C>T (p.Cys285=) rs373861624 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_198253.3(TERT):c.2775C>T (p.His925=) rs34528119 0.00035
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_145207.3(AFG2A):c.1616G>T (p.Arg539Met) rs74991481 0.00034
NM_000141.5(FGFR2):c.1986+7C>T rs199697707 0.00032
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252 0.00032
NM_006031.6(PCNT):c.506G>A (p.Arg169His) rs61735823 0.00032
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_004523.4(KIF11):c.77+5G>C rs200188195 0.00031
NM_004656.4(BAP1):c.1962A>C (p.Val654=) rs148624125 0.00031
NM_006015.6(ARID1A):c.4053C>T (p.Gly1351=) rs200122106 0.00031
NM_000061.3(BTK):c.1252T>C (p.Tyr418His) rs144079566 0.00029
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463 0.00029
NM_001267550.2(TTN):c.49944G>A (p.Lys16648=) rs190021597 0.00029
NM_001267550.2(TTN):c.52008C>G (p.Val17336=) rs144507270 0.00029
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040 0.00029
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=) rs377467572 0.00029
NM_006015.6(ARID1A):c.6659A>G (p.Asn2220Ser) rs139576809 0.00029
NM_024649.5(BBS1):c.1695+10G>A rs200276861 0.00029
NM_198253.3(TERT):c.2520G>A (p.Leu840=) rs144310369 0.00029
NM_000377.3(WAS):c.1200G>A (p.Pro400=) rs375356111 0.00028
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870 0.00028
NM_144997.7(FLCN):c.1149C>T (p.Leu383=) rs150752548 0.00028
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val) rs143396390 0.00027
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn) rs150613209 0.00026
NM_001374828.1(ARID1B):c.4315G>A (p.Gly1439Arg) rs199674889 0.00026
NM_002025.4(AFF2):c.493A>G (p.Asn165Asp) rs142559324 0.00026
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_003383.5(VLDLR):c.954C>T (p.Cys318=) rs373943845 0.00026
NM_003611.3(OFD1):c.2376G>A (p.Glu792=) rs183241931 0.00026
NM_014795.4(ZEB2):c.1438G>T (p.Ala480Ser) rs143854197 0.00026
NM_014795.4(ZEB2):c.1735A>G (p.Thr579Ala) rs140593583 0.00026
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser) rs199614124 0.00026
NM_144969.3(ZDHHC15):c.1008A>G (p.Glu336=) rs144128364 0.00026
NM_005027.4(PIK3R2):c.1243G>A (p.Ala415Thr) rs200178501 0.00025
NM_014795.4(ZEB2):c.2142G>A (p.Pro714=) rs201180901 0.00025
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=) rs143159630 0.00025
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920 0.00024
NM_020975.6(RET):c.2088G>A (p.Ser696=) rs150329150 0.00024
NM_032531.4(KIRREL3):c.174G>A (p.Val58=) rs373309027 0.00024
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser) rs144756946 0.00024
NM_000834.5(GRIN2B):c.1356C>T (p.Tyr452=) rs142935139 0.00023
NM_001374828.1(ARID1B):c.7023C>T (p.His2341=) rs183572405 0.00023
NM_014795.4(ZEB2):c.462G>A (p.Glu154=) rs372940559 0.00023
NM_001448.3(GPC4):c.646G>T (p.Val216Leu) rs142826244 0.00022
NM_015450.3(POT1):c.1228G>C (p.Asp410His) rs79314063 0.00022
NM_001032221.6(STXBP1):c.627C>T (p.Leu209=) rs567071026 0.00021
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=) rs61751442 0.00021
NM_001347721.2(DYRK1A):c.1014C>T (p.Leu338=) rs143646885 0.00021
NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg) rs140758033 0.00021
NM_004006.3(DMD):c.5163G>C (p.Lys1721Asn) rs72468630 0.00021
NM_175914.5(HNF4A):c.427-4G>A rs146751799 0.00021
NM_181523.3(PIK3R1):c.1920G>A (p.Gly640=) rs61749602 0.00021
NM_001958.5(EEF1A2):c.30C>T (p.Ile10=) rs376374917 0.00020
NM_022455.5(NSD1):c.4509G>A (p.Met1503Ile) rs199574095 0.00020
NM_001018113.3(FANCB):c.507T>C (p.Ser169=) rs149609970 0.00019
NM_001042492.3(NF1):c.1032A>G (p.Leu344=) rs199832006 0.00019
NM_001077418.3(TMEM231):c.140-28C>G rs375353411 0.00019
NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu) rs61749739 0.00019
NM_001267550.2(TTN):c.97578C>T (p.Asp32526=) rs142907833 0.00019
NM_004153.4(ORC1):c.1239A>C (p.Ala413=) rs377164890 0.00019
NM_016222.4(DDX41):c.741G>A (p.Glu247=) rs143274979 0.00019
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=) rs146601031 0.00019
NM_030665.4(RAI1):c.4295C>T (p.Pro1432Leu) rs201405375 0.00019
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_000546.6(TP53):c.935C>G (p.Thr312Ser) rs145151284 0.00018
NM_001080414.4(CCDC88C):c.1962G>A (p.Leu654=) rs61746076 0.00018
NM_006009.4(TUBA1A):c.390G>C (p.Thr130=) rs1143559 0.00018
NM_001371928.1(AHDC1):c.1446C>T (p.Pro482=) rs138527675 0.00016
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737 0.00016
NM_001987.5(ETV6):c.573G>T (p.Arg191=) rs35030220 0.00016
NM_003072.5(SMARCA4):c.441C>T (p.Ser147=) rs201372858 0.00016
NM_030665.4(RAI1):c.214G>A (p.Ala72Thr) rs370671656 0.00016
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His) rs185957513 0.00015
NM_012309.5(SHANK2):c.5021C>T (p.Thr1674Met) rs141040521 0.00015
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018 0.00014
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977 0.00014
NM_006231.4(POLE):c.6004+5G>T rs372169366 0.00014
NM_021008.4(DEAF1):c.1182C>T (p.Tyr394=) rs202179285 0.00014
NM_022455.5(NSD1):c.2339C>T (p.Ser780Leu) rs201327209 0.00014
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) rs146711478 0.00014
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=) rs200440893 0.00014
NM_201525.4(ADGRG1):c.1647C>T (p.Gly549=) rs2278808 0.00014
NM_001079872.2(CUL4B):c.1962G>A (p.Pro654=) rs185389157 0.00013
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro) rs536108231 0.00013
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) rs750112288 0.00012
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser) rs79483201 0.00011
NM_004380.3(CREBBP):c.6852C>G (p.Thr2284=) rs201161108 0.00011
NM_024675.4(PALB2):c.2027T>C (p.Ile676Thr) rs200875161 0.00011
NM_030632.3(ASXL3):c.195G>A (p.Gly65=) rs371104233 0.00011
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser) rs368028754 0.00011
NM_000061.3(BTK):c.895-10G>A rs370812397 0.00010
NM_001042492.3(NF1):c.2178G>C (p.Val726=) rs369590240 0.00010
NM_014159.7(SETD2):c.2798G>T (p.Gly933Val) rs202209141 0.00010
NM_175875.5(SIX5):c.493C>T (p.Leu165=) rs368485758 0.00010
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382 0.00009
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) rs61753966 0.00009
NM_003560.4(PLA2G6):c.1742+12C>T rs11570739 0.00009
NM_007294.4(BRCA1):c.*1327G>A rs184237074 0.00009
NM_017780.4(CHD7):c.8661G>A (p.Pro2887=) rs148517660 0.00009
NM_030632.3(ASXL3):c.5173G>A (p.Asp1725Asn) rs201072457 0.00009
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=) rs118093942 0.00008
NM_001040142.2(SCN2A):c.3372C>T (p.Ser1124=) rs571408286 0.00008
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) rs587781033 0.00008
NM_001123385.2(BCOR):c.739C>T (p.Leu247=) rs139023119 0.00008
NM_002397.5(MEF2C):c.363C>T (p.Asn121=) rs186648089 0.00008
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe) rs201631570 0.00008
NM_032531.4(KIRREL3):c.88G>A (p.Val30Met) rs182260035 0.00008
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00008
NM_014780.5(CUL7):c.2603A>G (p.Asn868Ser) rs149360738 0.00007
NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser) rs200856103 0.00007
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231 0.00006
NM_000377.3(WAS):c.1299G>A (p.Ala433=) rs372649110 0.00006
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu) rs61752457 0.00006
NM_001040142.2(SCN2A):c.1959G>A (p.Val653=) rs200546427 0.00006
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=) rs143063879 0.00006
NM_022455.5(NSD1):c.395G>C (p.Cys132Ser) rs28932174 0.00006
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136 0.00005
NM_001110792.2(MECP2):c.510G>A (p.Thr170=) rs61748413 0.00005
NM_001184880.2(PCDH19):c.3320G>A (p.Arg1107His) rs200021840 0.00005
NM_001372044.2(SHANK3):c.2184T>C (p.Gly728=) rs747708688 0.00005
NM_003482.4(KMT2D):c.5821A>G (p.Met1941Val) rs372271746 0.00005
NM_005629.4(SLC6A8):c.1713C>T (p.Cys571=) rs782244505 0.00005
NM_007118.4(TRIO):c.3067-4A>T rs200412925 0.00005
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr) rs142211875 0.00005
NM_000465.4(BARD1):c.253G>T (p.Val85Leu) rs370359540 0.00004
NM_001349338.3(FOXP1):c.1233C>T (p.Thr411=) rs147995584 0.00004
NM_001372044.2(SHANK3):c.1513G>A (p.Gly505Ser) rs563454435 0.00004
NM_001754.5(RUNX1):c.1355T>G (p.Val452Gly) rs751710767 0.00004
NM_003001.5(SDHC):c.490A>T (p.Met164Leu) rs200375156 0.00004
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906 0.00004
NM_000426.4(LAMA2):c.5688C>T (p.His1896=) rs573779258 0.00003
NM_001018113.3(FANCB):c.2435A>G (p.Tyr812Cys) rs780116069 0.00003
NM_001079872.2(CUL4B):c.1797C>T (p.Val599=) rs751833365 0.00003
NM_001308093.3(GATA4):c.1183C>A (p.Pro395Thr) rs200319078 0.00003
NM_003072.5(SMARCA4):c.3066C>T (p.Ser1022=) rs149111403 0.00003
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696 0.00003
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly) rs549000007 0.00003
NM_001005361.3(DNM2):c.1731G>A (p.Lys577=) rs35365412 0.00002
NM_001110792.2(MECP2):c.1487G>C (p.Arg496Thr) rs267608370 0.00002
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206 0.00002
NM_170707.4(LMNA):c.1098G>A (p.Lys366=) rs57901307 0.00002
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=) rs587783314 0.00001
NM_000297.4(PKD2):c.2460C>T (p.Ser820=) rs572822238 0.00001
NM_001032221.6(STXBP1):c.1548-7T>C rs534556046 0.00001
NM_001126121.2(SLC25A19):c.414C>T (p.Pro138=) rs532597121 0.00001
NM_001195553.2(DCX):c.339C>A (p.Ile113=) rs587783543 0.00001
NM_001267550.2(TTN):c.102963C>T (p.Asn34321=) rs528502993 0.00001
NM_001323289.2(CDKL5):c.1400A>G (p.His467Arg) rs267608631 0.00001
NM_001378778.1(MPDZ):c.663C>T (p.Ala221=) rs35476999 0.00001
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu) rs540935486 0.00001
NM_002547.3(OPHN1):c.2307G>A (p.Gly769=) rs748176965 0.00001
NM_002834.5(PTPN11):c.951G>A (p.Lys317=) rs576405446 0.00001
NM_022455.5(NSD1):c.4883T>C (p.Met1628Thr) rs530920626 0.00001
NM_030665.4(RAI1):c.5652C>T (p.Ser1884=) rs567884332 0.00001
NM_139058.3(ARX):c.807C>T (p.Ala269=) rs587783205 0.00001
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) rs138453594 0.00001
NM_152703.5(SAMD9L):c.4394G>A (p.Arg1465His) rs190393069 0.00001
NM_194292.3(SASS6):c.86G>A (p.Ser29Asn) rs150589706 0.00001
NM_000032.5(ALAS2):c.231C>A (p.Leu77=) rs760900782
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000044.6(AR):c.1370GCG[13] (p.Gly470_Gly473del) rs746853821
NM_000044.6(AR):c.171GCA[20] (p.Gln78_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup) rs3032358
NM_000044.6(AR):c.654C>T (p.Pro218=) rs751027309
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000064.4(C3):c.-3_-2dup rs528697923
NM_000143.4(FH):c.1237-50TC[26] rs144131869
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000173.7(GP1BA):c.1321_1359del (p.415_427SEPAPSPTTPEPT[2]) rs1259394995
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000208.4(INSR):c.653-23TC[11] rs3835070
NM_000208.4(INSR):c.653-23TC[12] rs3835070
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000264.5(PTCH1):c.-24GGC[5] rs71366293
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) rs750077647
NM_000330.4(RS1):c.185-3281C>G rs148531754
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
NM_000426.4(LAMA2):c.2756G>T (p.Arg919Leu) rs35277491
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=) rs1465698
NM_000540.3(RYR1):c.897G>C (p.Val299=) rs76854339
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000791.4(DHFR):c.-437GGGGCGCTG[4] rs60484572
NM_000791.4(DHFR):c.-437GGGGCGCTG[5] rs60484572
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540
NM_001080414.4(CCDC88C):c.1608A>G (p.Arg536=) rs61743971
NM_001083962.2(TCF4):c.1299G>A (p.Leu433=) rs552340151
NM_001110556.2(FLNA):c.3429C>G (p.Thr1143=) rs183899917
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys) rs141382970
NM_001110792.2(MECP2):c.786C>T (p.Arg262=) rs61748424
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[2] (p.152APVA[2]) rs565544512
NM_001122630.2(CDKN1C):c.573GGCCCC[2] (p.186AP[8]) rs759134767
NM_001126049.2(KLLN):c.-955G>T rs587781128
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) rs36061665
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
NM_001134407.3(GRIN2A):c.3468A>T (p.Glu1156Asp) rs778180100
NM_001134665.3(TRMT10A):c.206G>A (p.Arg69His) rs147815779
NM_001206999.2(CIT):c.4068C>T (p.Ile1356=) rs56006347
NM_001244008.2(KIF1A):c.3072C>G (p.Ser1024=) rs73102625
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) rs139512154
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup) rs577498739
NM_001291415.2(KDM6A):c.42CGC[4] (p.Ala17dup) rs797044622
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del) rs10590816
NM_001308093.3(GATA4):c.702G>A (p.Thr234=) rs55788387
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup) rs782576893
NM_001367916.1(MAGT1):c.16C>T (p.Arg6Trp) rs140854076
NM_001374828.1(ARID1B):c.1194AGG[3] (p.Gly402del) rs587779748
NM_001374828.1(ARID1B):c.1211GAG[7] (p.Gly411del) rs747790383
NM_001374828.1(ARID1B):c.352TCC[8] (p.Ser124dup) rs770512547
NM_001374828.1(ARID1B):c.591GCA[8] (p.Gln214dup) rs587779743
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup) rs587779743
NM_001374828.1(ARID1B):c.615GCA[8] (p.Gln214dup) rs587779744
NM_001374828.1(ARID1B):c.615GCA[9] (p.Gln213_Gln214dup) rs587779744
NM_001378418.1(TCF20):c.150CAGTGG[2] (p.51SG[2]) rs541147459
NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del) rs55889738
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile) rs16892134
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001379110.1(SLC9A6):c.1582-3C>T rs563279759
NM_001643.2(APOA2):c.53-43TG[17] rs17244502
NM_001807.6(CEL):c.61G>T (p.Ala21Ser) rs558100781
NM_001807.6(CEL):c.7C>T (p.Arg3Cys) rs201383133
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=) rs11554669
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002519.3(NPAT):c.3199G>A (p.Asp1067Asn) rs79119325
NM_002547.3(OPHN1):c.1749A>C (p.Ala583=) rs35137641
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_003051.3(SLC16A1):c.-246dup rs58047463
NM_003051.4(SLC16A1):c.362-58TATT[9] rs149491709
NM_003070.5(SMARCA2):c.483G>T (p.Pro161=) rs146359524
NM_003070.5(SMARCA2):c.669GCA[10] (p.Gln236_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[14] (p.Gln238dup) rs113070757
NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln237_Gln238dup) rs113070757
NM_003108.4(SOX11):c.1039AGCGGCAGCAGC[3] (p.347SGSS[3]) rs751221446
NM_003392.7(WNT5A):c.405G>T (p.Thr135=) rs147104982
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.2798-7del rs112620957
NM_003482.4(KMT2D):c.7497C>T (p.Pro2499=) rs201218526
NM_004113.6(FGF12):c.229-8del rs34265167
NM_004260.4(RECQL4):c.465C>G (p.Val155=) rs116137512
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004456.5(EZH2):c.118-4del rs3214332
NM_004586.3(RPS6KA3):c.594-10dup rs755566588
NM_005045.4(RELN):c.-24GGC[11] (p.Met1_Glu2insGlyGlyGly) rs55656324
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_005257.6(GATA6):c.969CCA[11] (p.His333dup) rs562588574
NM_005263.5(GFI1):c.925-40CT[24] rs35896485
NM_005445.4(SMC3):c.548-5_548-4dup rs199906378
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006015.6(ARID1A):c.1029_1043del (p.Ala345_Ala349del) rs751352361
NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln) rs41303631
NM_006031.6(PCNT):c.5253C>G (p.His1751Gln) rs114799541
NM_006031.6(PCNT):c.640-8T>G rs587784314
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA rs59957960
NM_006086.4(TUBB3):c.167-5C>G rs147928399
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006516.4(SLC2A1):c.679+7G>C rs13306757
NM_006734.4(HIVEP2):c.1722C>T (p.Asp574=) rs559329860
NM_006910.5(RBBP6):c.504A>C (p.Gly168=)
NM_006947.4(SRP72):c.20G>C (p.Gly7Ala) rs139502866
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_012156.2(EPB41L1):c.531G>T (p.Pro177=) rs139137163
NM_012216.4(MID2):c.1074-4del rs758037994
NM_012309.5(SHANK2):c.4161_4166dup (p.Leu1387_Pro1388dup) rs756656381
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014915.3(ANKRD26):c.937G>T (p.Asp313Tyr) rs61730102
NM_015107.3(PHF8):c.2790CTC[2] (p.Ser933del) rs782660284
NM_015272.5(RPGRIP1L):c.3295-8del rs113083177
NM_015421.4(TMEM186):c.3+20G>T rs145394389
NM_015421.4(TMEM186):c.3+27G>A rs113804940
NM_016343.4(CENPF):c.2101A>C (p.Met701Leu) rs3795524
NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter) rs199887936
NM_017763.6(RNF43):c.576G>A (p.Pro192=) rs76384648
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_018013.4(SOBP):c.2232GCC[6] (p.Pro751del) rs541688197
NM_018013.4(SOBP):c.2232GCC[8] (p.Pro751dup) rs541688197
NM_018136.5(ASPM):c.3742-3dup rs587783236
NM_018249.6(CDK5RAP2):c.3134G>C (p.Arg1045Thr) rs3780679
NM_018451.5(CENPJ):c.2992-17dup rs35599563
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_020207.7(ERCC6L2):c.8C>A (p.Pro3Gln) rs151308487
NM_020451.3(SELENON):c.1092+6C>G rs148071754
NM_020831.6(MRTFA):c.2004C>G (p.Pro668=) rs373182628
NM_021072.4(HCN1):c.203GCG[5] (p.Gly73_Gly74del) rs747975797
NM_021738.3(SVIL):c.3776T>C (p.Met1259Thr)
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del) rs45451605
NM_021956.5(GRIK2):c.724-7del rs2243352
NM_022436.3(ABCG5):c.1228A>C (p.Asn410His) rs115590670
NM_022455.5(NSD1):c.4062C>T (p.Gly1354=) rs144562009
NM_022455.5(NSD1):c.4564G>A (p.Asp1522Asn) rs201483724
NM_024408.4(NOTCH2):c.15C>G (p.Arg5=) rs4021006
NM_024596.5(MCPH1):c.1351G>A (p.Glu451Lys) rs202004426
NM_025009.5(CEP135):c.297C>T (p.His99=) rs115408010
NM_025074.7(FRAS1):c.7029+9A>C rs188606284
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_138927.4(SON):c.4090_4113del (p.Ala1364_Ser1371del) rs779275354
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del) rs387906492
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_153704.6(TMEM67):c.224-4_224-3del rs587779735
NM_178012.5(TUBB2B):c.564G>T (p.Ser188=) rs2259136
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951
NR_001566.1(TERC):n.-245G>A rs116780570

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