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MRK-nu-1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

2101 mutations reported
727 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
PXDNLENSG00000147485ENST00000356297p.I1264Nc.3791T>ASubstitution - Missense
PHF6ENSG00000156531ENST00000370800p.L292Lc.876G>ASubstitution - coding silent
RPS20ENSG00000008988ENST00000519807p.E14Qc.40G>CSubstitution - Missense
ENST00000505256p.M2010Tc.6029T>CSubstitution - Missense
DSG4ENSG00000175065ENST00000359747p.G838Gc.2514T>CSubstitution - coding silent
TBC1D3FENSG00000185128ENST00000327454p.M120Ic.360G>CSubstitution - Missense
C4orf26ENSG00000174792ENST00000435974p.S79Pc.235T>CSubstitution - Missense
ROBO2ENSG00000185008ENST00000461745p.R1174Ic.3521G>TSubstitution - Missense
BRWD1ENSG00000185658ENST00000333229p.H199Dc.595C>GSubstitution - Missense
UBASH3AENSG00000160185ENST00000319294p.F194Fc.582C>TSubstitution - coding silent
C18orf8ENSG00000141452ENST00000269221p.?c.103-3C>TUnknown
NM_147171.1p.E2767Kc.8299G>ASubstitution - Missense
COG1ENSG00000166685ENST00000299886p.S293Cc.878C>GSubstitution - Missense
CDH1ENSG00000039068ENST00000261769p.?c.388-8C>GUnknown
MLH1ENSG00000076242ENST00000231790p.S374Rc.1122T>ASubstitution - Missense
RRM2ENSG00000171848ENST00000304567p.R78Cc.232C>TSubstitution - Missense
ADGBENSG00000118492ENST00000367493p.S376Ic.1127G>TSubstitution - Missense
PCDH18ENSG00000189184ENST00000344876p.T560Tc.1680C>GSubstitution - coding silent
DKC1ENSG00000130826ENST00000369550p.V329Vc.987C>TSubstitution - coding silent
GRPRENSG00000126010ENST00000380289p.P95Ac.283C>GSubstitution - Missense
NM_001371.1p.?c.10468-3T>CUnknown
C2orf42ENSG00000115998ENST00000264434p.A173Sc.517G>TSubstitution - Missense
COL6A6ENSG00000206384ENST00000358511p.V219Ac.656T>CSubstitution - Missense
KALRNENSG00000160145ENST00000291478p.C1004*c.3012C>ASubstitution - Nonsense
CCDC104ENSG00000163001ENST00000349456p.?c.486-6T>AUnknown
GSK3BENSG00000082701ENST00000316626p.S21Lc.62C>TSubstitution - Missense
PHLDB2ENSG00000144824ENST00000412622p.Y59Cc.176A>GSubstitution - Missense
ZNF43ENSG00000198521ENST00000354959p.E16Vc.47A>TSubstitution - Missense
SUGP2ENSG00000064607ENST00000337018p.G707Dc.2120G>ASubstitution - Missense
RNF183ENSG00000165188ENST00000297894p.R161Cc.481C>TSubstitution - Missense
BEND6ENSG00000151917ENST00000370746p.?c.121-9C>GUnknown
DSTENSG00000151914ENST00000370769p.D3222Ac.9665A>CSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.R84Qc.251G>ASubstitution - Missense
NAALADL2ENSG00000177694ENST00000454872p.N459Nc.1377T>CSubstitution - coding silent
CSF1RENSG00000182578ENST00000286301p.F233Fc.699T>CSubstitution - coding silent
NM_016377.2p.S12Fc.35C>TSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
FERD3LENSG00000146618ENST00000275461p.L124Lc.370C>TSubstitution - coding silent
NM_018695.1p.L518Mc.1552T>ASubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.T1907Tc.5721G>ASubstitution - coding silent
CACNA1IENSG00000100346ENST00000336649p.N1580Nc.4740T>CSubstitution - coding silent
ZDHHC12ENSG00000160446ENST00000372663p.H112Nc.334C>ASubstitution - Missense
KIAA0226LENSG00000102445ENST00000378797p.D21Nc.61G>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000404771p.A29Pc.85G>CSubstitution - Missense
SEPHS2ENSG00000179918ENST00000478753p.L435Fc.1303C>TSubstitution - Missense
LGR6ENSG00000133067ENST00000439764p.Q235Hc.705G>CSubstitution - Missense
EXOSC10ENSG00000171824ENST00000544779p.H91Hc.273T>CSubstitution - coding silent
SCAF8ENSG00000213079ENST00000367186p.?c.520-4C>GUnknown
PRRC1ENSG00000164244ENST00000512635p.S41Fc.122C>TSubstitution - Missense
ABCA8ENSG00000141338ENST00000430352p.E1620Qc.4858G>CSubstitution - Missense
PLECENSG00000178209ENST00000356346p.R3206Qc.9617G>ASubstitution - Missense
BNC2ENSG00000173068ENST00000418777p.G209Vc.626G>TSubstitution - Missense
PFDN6ENSG00000204220ENST00000463584p.V56Vc.168C>GSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.E14405Qc.43213G>CSubstitution - Missense
ENST00000356127p.E20775Qc.62323G>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.I20751Mc.62253C>GSubstitution - Missense
RPL13ENSG00000167526ENST00000393099p.E171Ec.513G>ASubstitution - coding silent
MYH3ENSG00000109063ENST00000226209p.A1578Sc.4732G>TSubstitution - Missense
LRCH3ENSG00000186001ENST00000334859p.R413Qc.1238G>ASubstitution - Missense
CNTN4ENSG00000144619ENST00000418658p.P26Pc.78G>ASubstitution - coding silent
ABCA10ENSG00000154263ENST00000269081p.G209Gc.627C>GSubstitution - coding silent
TBC1D8ENSG00000204634ENST00000409318p.D264Nc.790G>ASubstitution - Missense
ALMS1ENSG00000116127ENST00000264448p.?c.10075+8G>AUnknown
RETSATENSG00000042445ENST00000295802p.?c.1256+5G>TUnknown
TRANK1ENSG00000168016ENST00000301807p.S1331*c.3992C>GSubstitution - Nonsense
ADGBENSG00000118492ENST00000367488p.S154Ic.461G>TSubstitution - Missense
COL4A4ENSG00000081052ENST00000396625p.?c.1029+6A>CUnknown
RASIP1ENSG00000105538ENST00000222145p.E694Ec.2082G>ASubstitution - coding silent
KALRNENSG00000160145ENST00000360013p.C2701*c.8103C>ASubstitution - Nonsense
NOXA1ENSG00000188747ENST00000341349p.N82Yc.244A>TSubstitution - Missense
VCXENSG00000182583ENST00000381059p.E181Vc.542A>TSubstitution - Missense
UNC13AENSG00000130477ENST00000428389p.L1122Vc.3364C>GSubstitution - Missense
ZNF541ENSG00000118156ENST00000391901p.K870Rc.2609A>GSubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.G1820Gc.5460G>ASubstitution - coding silent
FKBP5ENSG00000096060ENST00000542713p.D145Dc.435T>CSubstitution - coding silent
FAM135AENSG00000082269ENST00000418814p.G901Gc.2703G>ASubstitution - coding silent
KIAA0408ENSG00000189367ENST00000483725p.H406Qc.1218T>GSubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.D3049Hc.9145G>CSubstitution - Missense
CACNA1IENSG00000100346ENST00000404898p.N1539Nc.4617T>CSubstitution - coding silent
BRD9ENSG00000028310ENST00000467963p.D400Nc.1198G>ASubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.V3877Lc.11629G>TSubstitution - Missense
ATP6V1E2ENSG00000250565ENST00000306448p.P138Qc.413C>ASubstitution - Missense
LRBAENSG00000198589ENST00000357115p.G908Cc.2722G>TSubstitution - Missense
PCDHA10ENSG00000250120ENST00000506939p.L147Fc.439C>TSubstitution - Missense
ZNF420ENSG00000197050ENST00000337995p.C253Fc.758G>TSubstitution - Missense
TNS3ENSG00000136205ENST00000311160p.P380Sc.1138C>TSubstitution - Missense
VPS13BENSG00000132549ENST00000357162p.P1264Tc.3790C>ASubstitution - Missense
ZNF777ENSG00000196453ENST00000247930p.L821Lc.2463C>GSubstitution - coding silent
TTC1ENSG00000113312ENST00000231238p.D35Nc.103G>ASubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
MCF2ENSG00000101977ENST00000370573p.P448Pc.1344A>GSubstitution - coding silent
NEBENSG00000183091ENST00000409198p.V4318Vc.12954C>TSubstitution - coding silent
GAS2ENSG00000148935ENST00000454584p.E224Dc.672G>TSubstitution - Missense
DYDC1ENSG00000170788ENST00000421924p.Q82*c.244C>TSubstitution - Nonsense
CAMK2GENSG00000148660ENST00000322635p.H469Hc.1407C>TSubstitution - coding silent
ENSG00000150076ENST00000375025p.S145*c.434C>GSubstitution - Nonsense
PAPPAENSG00000182752ENST00000328252p.E1364Ec.4092G>ASubstitution - coding silent
MYO3BENSG00000071909ENST00000408978p.?c.972-4C>AUnknown
DAB2IPENSG00000136848ENST00000309989p.H901fs*4c.2701_2702insCInsertion - Frameshift
CELF2ENSG00000048740ENST00000354897p.T154Sc.460A>TSubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.L593Lc.1777C>TSubstitution - coding silent
LHX9ENSG00000143355ENST00000367390p.?c.351-8C>TUnknown
MYO9AENSG00000066933ENST00000356056p.R1036Rc.3106A>CSubstitution - coding silent
KLF6ENSG00000067082ENST00000497571p.R208Gc.622A>GSubstitution - Missense
AIM2ENSG00000163568ENST00000368130p.F167Sc.500T>CSubstitution - Missense
LRRC4CENSG00000148948ENST00000278198p.Q34Hc.102A>TSubstitution - Missense
WIBGENSG00000170473ENST00000408946p.E198Dc.594G>TSubstitution - Missense
MYBPC1ENSG00000196091ENST00000360610p.E1008Qc.3022G>CSubstitution - Missense
ENSAENSG00000143420ENST00000503345p.E23Kc.67G>ASubstitution - Missense
CIITAENSG00000179583ENST00000324288p.D55Gc.164A>GSubstitution - Missense
SETD8ENSG00000183955ENST00000330479p.I321Ic.963C>TSubstitution - coding silent
NM_203494.1p.Y300*c.900T>ASubstitution - Nonsense
ZBTB1ENSG00000126804ENST00000358738p.E315Gc.944A>GSubstitution - Missense
LEPRENSG00000116678ENST00000371060p.?c.703+3A>TUnknown
RABGGTBENSG00000137955ENST00000319942p.D130Gc.389A>GSubstitution - Missense
CCDC18ENSG00000122483ENST00000334652p.R1226Rc.3678G>ASubstitution - coding silent
SACSENSG00000151835ENST00000382298p.N3487Nc.10461T>CSubstitution - coding silent
STARD8ENSG00000130052ENST00000374599p.A759Ac.2277A>TSubstitution - coding silent
KPNA1ENSG00000114030ENST00000344337p.?c.1250+6T>CUnknown
ROS1ENSG00000047936ENST00000368508p.Q1610*c.4828C>TSubstitution - Nonsense
CDC25AENSG00000164045ENST00000302506p.T507Tc.1521C>TSubstitution - coding silent
SVEP1ENSG00000165124ENST00000401783p.F803Lc.2409C>GSubstitution - Missense
MSH6ENSG00000116062ENST00000234420p.S612*c.1835C>ASubstitution - Nonsense
MECOMENSG00000085276ENST00000264674p.D960Nc.2878G>ASubstitution - Missense
PCDHA4ENSG00000204967ENST00000356878p.V745Lc.2233G>TSubstitution - Missense
C7orf57ENSG00000164746ENST00000348904p.?c.242-1G>TUnknown
PCDHA10ENSG00000250120ENST00000307360p.L147Fc.439C>TSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.E87Dc.261G>CSubstitution - Missense
VPS13BENSG00000132549ENST00000357162p.S2917Sc.8751G>ASubstitution - coding silent
ENST00000316490p.E1710Kc.5128G>ASubstitution - Missense
PKD1L1ENSG00000158683ENST00000289672p.H2388Dc.7162C>GSubstitution - Missense
SCN2AENSG00000136531ENST00000375427p.V1262Lc.3784G>CSubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.E862Kc.2584G>ASubstitution - Missense
DDX26BENSG00000165359ENST00000370752p.Q340Qc.1020G>ASubstitution - coding silent
ENST00000301171p.H68Yc.202C>TSubstitution - Missense
PLA2R1ENSG00000153246ENST00000283243p.Q1061*c.3181C>TSubstitution - Nonsense
NM_139056.1p.P200Lc.599C>TSubstitution - Missense
NM_178001.1p.I292Vc.874A>GSubstitution - Missense
LPHN2ENSG00000117114ENST00000370721p.Q333*c.997C>TSubstitution - Nonsense
CLCA4ENSG00000016602ENST00000263723p.G181Dc.542G>ASubstitution - Missense
NM_014363.3p.H2735Yc.8203C>TSubstitution - Missense
C12orf40ENSG00000180116ENST00000398716p.S351Cc.1052C>GSubstitution - Missense
CAMTA2ENSG00000108509ENST00000414043p.A890fs*7c.2658_2659insCInsertion - Frameshift
VWA5B1ENSG00000158816ENST00000375083p.T147Pc.439A>CSubstitution - Missense
KIF18BENSG00000186185ENST00000590129p.P28Hc.83C>ASubstitution - Missense
WDR52ENSG00000206530ENST00000308346p.D139Nc.415G>ASubstitution - Missense
COL9A1ENSG00000112280ENST00000370499p.S392Fc.1175C>TSubstitution - Missense
SEMA3DENSG00000153993ENST00000284136p.V162Vc.486C>ASubstitution - coding silent
ZSCAN30ENSG00000186814ENST00000333206p.R321Ic.962G>TSubstitution - Missense
EGFLAMENSG00000164318ENST00000354891p.R368Qc.1103G>ASubstitution - Missense
BDKRB2ENSG00000168398ENST00000554311p.R169Cc.505C>TSubstitution - Missense
LRIT1ENSG00000148602ENST00000372105p.A233Vc.698C>TSubstitution - Missense
KRT1ENSG00000167768ENST00000252244p.V623Vc.1869C>GSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.L4019Lc.12057C>TSubstitution - coding silent
CLEC4CENSG00000198178ENST00000360345p.K210delKc.629_631delAGADeletion - In frame
ENST00000317359p.C219fs*3c.655delTDeletion - Frameshift
ITGBL1ENSG00000198542ENST00000376180p.S491Lc.1472C>TSubstitution - Missense
MYBPC1ENSG00000196091ENST00000361466p.E1015Qc.3043G>CSubstitution - Missense
NM_004667.3p.H3133Nc.9397C>ASubstitution - Missense
ENSAENSG00000143420ENST00000339643p.E23Kc.67G>ASubstitution - Missense
TTC12ENSG00000149292ENST00000529221p.G456Ec.1367G>ASubstitution - Missense
ENST00000375089p.T147Pc.439A>CSubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.L1643Lc.4929A>GSubstitution - coding silent
SAMD4AENSG00000020577ENST00000357634p.P280Tc.838C>ASubstitution - Missense
NM_022048p.F55Lc.163T>CSubstitution - Missense
FBN1ENSG00000166147ENST00000316623p.R565Qc.1694G>ASubstitution - Missense
ARHGAP29ENSG00000137962ENST00000260526p.K802Tc.2405A>CSubstitution - Missense
VPS18ENSG00000104142ENST00000220509p.E198Ec.594A>GSubstitution - coding silent
UNC79ENSG00000133958ENST00000553484p.S2619Sc.7857G>CSubstitution - coding silent
TLN2ENSG00000171914ENST00000306829p.E1440Kc.4318G>ASubstitution - Missense
IFI44LENSG00000137959ENST00000370751p.V231Vc.693G>TSubstitution - coding silent
CWC22ENSG00000163510ENST00000410053p.R890Rc.2670A>GSubstitution - coding silent
FSIP2ENSG00000188738ENST00000343098p.K264Nc.792G>TSubstitution - Missense
FLNBENSG00000136068ENST00000490882p.?c.1484-1G>AUnknown
KIF24ENSG00000186638ENST00000402558p.S455Rc.1365T>ASubstitution - Missense
KDM4CENSG00000107077ENST00000381309p.V676Ic.2026G>ASubstitution - Missense
SLC6A2ENSG00000103546ENST00000219833p.V468Ic.1402G>ASubstitution - Missense
ETS2ENSG00000157557ENST00000360214p.L417Lc.1251G>ASubstitution - coding silent
RUFY3ENSG00000018189ENST00000226328p.A454Ec.1361C>ASubstitution - Missense
DHFRL1ENSG00000178700ENST00000394221p.V51Vc.153G>CSubstitution - coding silent
LRRC16AENSG00000079691ENST00000329474p.A653Tc.1957G>ASubstitution - Missense
PCDHA12ENSG00000251664ENST00000398631p.L647Mc.1939C>ASubstitution - Missense
DOCK4ENSG00000128512ENST00000437633p.M1092Vc.3274A>GSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.E87Kc.259G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
NM_002711.2p.L356Fc.1068A>TSubstitution - Missense
MYBL2ENSG00000101057ENST00000217026p.I180Mc.540C>GSubstitution - Missense
SMOXENSG00000088826ENST00000278795p.L344Lc.1032C>TSubstitution - coding silent
NEBENSG00000183091ENST00000409198p.K2625Kc.7875G>ASubstitution - coding silent
TAPBPENSG00000231925ENST00000434618p.L133Lc.399C>GSubstitution - coding silent
CUTAENSG00000112514ENST00000374500p.S51Ac.151T>GSubstitution - Missense
CEP128ENSG00000100629ENST00000327841p.H102Yc.304C>TSubstitution - Missense
UNC13CENSG00000137766ENST00000545554p.Q361*c.1081C>TSubstitution - Nonsense
ZDHHC5ENSG00000156599ENST00000287169p.S682Tc.2044T>ASubstitution - Missense
POM121ENSG00000196313ENST00000434423p.A1004_A1005insPAc.3011_3012insCCCGGCInsertion - In frame
CNKSR2ENSG00000149970ENST00000279451p.?c.2045-1G>CUnknown
SYNE1ENSG00000131018ENST00000448038p.V1097Gc.3290T>GSubstitution - Missense
NAA16ENSG00000172766ENST00000379406p.R559Sc.1677A>TSubstitution - Missense
ENST00000349637p.P3865Pc.11595G>ASubstitution - coding silent
ENST00000317359p.I167Ic.501C>ASubstitution - coding silent
SEC11AENSG00000140612ENST00000268220p.P48Pc.144G>ASubstitution - coding silent
MS4A1ENSG00000156738ENST00000389939p.E241Kc.721G>ASubstitution - Missense
CD248ENSG00000174807ENST00000311330p.S443delSc.1326_1328delCTCDeletion - In frame
MMP14ENSG00000157227ENST00000311852p.L502Lc.1506G>CSubstitution - coding silent
C1orf101ENSG00000179397ENST00000366534p.E636Kc.1906G>ASubstitution - Missense
HPS5ENSG00000110756ENST00000349215p.L70Vc.208C>GSubstitution - Missense
ZNF106ENSG00000103994ENST00000263805p.S1510Lc.4529C>TSubstitution - Missense
ENST00000417177p.A1013Vc.3038C>TSubstitution - Missense
ANK3ENSG00000151150ENST00000280772p.A1685delAc.5054_5056delCAGDeletion - In frame
CACNA1HENSG00000196557ENST00000358590p.S2259Rc.6777C>ASubstitution - Missense
MALRD1ENSG00000204740ENST00000455457p.C219Cc.657T>CSubstitution - coding silent
CHD4ENSG00000111642ENST00000357008p.E911Kc.2731G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.E1074Kc.3220G>ASubstitution - Missense
PTPRBENSG00000127329ENST00000334414p.P886Pc.2658C>TSubstitution - coding silent
FNDC7ENSG00000143107ENST00000370017p.E505Qc.1513G>CSubstitution - Missense
PPFIBP1ENSG00000110841ENST00000228425p.A429Tc.1285G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.T688Tc.2064A>GSubstitution - coding silent
UNC13CENSG00000137766ENST00000260323p.L1643Lc.4929A>GSubstitution - coding silent
UNC13CENSG00000137766ENST00000260323p.D2195Ac.6584A>CSubstitution - Missense
CLCA1ENSG00000016490ENST00000234701p.A914Sc.2740G>TSubstitution - Missense
NM_014363.3p.P2948Ac.8842C>GSubstitution - Missense
SPEF2ENSG00000152582ENST00000356031p.K1232Nc.3696G>CSubstitution - Missense
CDC27ENSG00000004897ENST00000066544p.R625Qc.1874G>ASubstitution - Missense
IFI44LENSG00000137959ENST00000342282p.V192Vc.576G>TSubstitution - coding silent
STAT1ENSG00000115415ENST00000361099p.L569Lc.1707G>ASubstitution - coding silent
KIAA1161ENSG00000164976ENST00000297625p.V389Vc.1167G>TSubstitution - coding silent
GOSR1ENSG00000108587ENST00000225724p.E22Kc.64G>ASubstitution - Missense
CACNA2D3ENSG00000157445ENST00000474759p.D204Hc.610G>CSubstitution - Missense
ADAMTS9ENSG00000163638ENST00000498707p.N275fs*21c.824delADeletion - Frameshift
EBF2ENSG00000221818ENST00000520164p.A329Sc.985G>TSubstitution - Missense
NPTX1ENSG00000171246ENST00000306773p.L402Lc.1204C>TSubstitution - coding silent
SHROOM3ENSG00000138771ENST00000296043p.G1886Gc.5658T>GSubstitution - coding silent
HIST1H2AEENSG00000168274ENST00000303910p.A53Tc.157G>ASubstitution - Missense
ETV1ENSG00000006468ENST00000403527p.V9Vc.27C>TSubstitution - coding silent
ELAC1ENSG00000141642ENST00000269466p.K362Kc.1086G>ASubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.K2970Nc.8910A>TSubstitution - Missense
MTUS1ENSG00000129422ENST00000262102p.S734Fc.2201C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.I14379Mc.43137C>GSubstitution - Missense
GRM6ENSG00000113262ENST00000231188p.H426Nc.1276C>ASubstitution - Missense
CNKSR2ENSG00000149970ENST00000379510p.L99Lc.295C>TSubstitution - coding silent
SASH1ENSG00000111961ENST00000367467p.E379Kc.1135G>ASubstitution - Missense
CCDC104ENSG00000163001ENST00000339012p.?c.561-6T>AUnknown
DMDENSG00000198947ENST00000378677p.E3459*c.10375G>TSubstitution - Nonsense
SEPHS2ENSG00000179918ENST00000500504p.S392Yc.1175C>ASubstitution - Missense
YPEL3ENSG00000090238ENST00000398841p.?c.385-10C>TUnknown
ACSL3ENSG00000123983ENST00000357430p.F624Vc.1870T>GSubstitution - Missense
RBBP7ENSG00000102054ENST00000380087p.A293Ac.879G>ASubstitution - coding silent
TSPO2ENSG00000112212ENST00000373161p.I123Ic.369C>ASubstitution - coding silent
LRWD1ENSG00000161036ENST00000292616p.?c.805-5C>GUnknown
PARP14ENSG00000173193ENST00000474629p.K1704Mc.5111A>TSubstitution - Missense
ENST00000310276p.K1541Mc.4622A>TSubstitution - Missense
SRRM2ENSG00000167978ENST00000301740p.R1077Kc.3230G>ASubstitution - Missense
TMEM170BENSG00000205269ENST00000379426p.S46Fc.137C>TSubstitution - Missense
KLKB1ENSG00000164344ENST00000264690p.G420Vc.1259G>TSubstitution - Missense
CCDC110ENSG00000168491ENST00000307588p.K222Kc.666A>GSubstitution - coding silent
PLCL2ENSG00000154822ENST00000418129p.L393Lc.1179A>GSubstitution - coding silent
VPS13AENSG00000197969ENST00000376634p.S2033Lc.6098C>TSubstitution - Missense
PCDHGB2ENSG00000253910ENST00000522605p.Q135Hc.405G>CSubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.P1264Tc.3790C>ASubstitution - Missense
ENST00000505235p.L147Fc.439C>TSubstitution - Missense
LRRC66ENSG00000188993ENST00000343457p.Q266*c.796C>TSubstitution - Nonsense
SPATA18ENSG00000163071ENST00000295213p.E372Kc.1114G>ASubstitution - Missense
PTGS1ENSG00000095303ENST00000362012p.G65Gc.195C>GSubstitution - coding silent
MTUS1ENSG00000129422ENST00000381862p.S734Fc.2201C>TSubstitution - Missense
CNKSR2ENSG00000149970ENST00000279451p.L99Pc.296T>CSubstitution - Missense
IP6K3ENSG00000161896ENST00000451316p.A240Vc.719C>TSubstitution - Missense
ENST00000357018p.A876Vc.2627C>TSubstitution - Missense
TNRC6AENSG00000090905ENST00000395799p.P1922Pc.5766G>ASubstitution - coding silent
PA2G4ENSG00000170515ENST00000303305p.?c.394-4A>TUnknown
PCDH20ENSG00000197991ENST00000409186p.N332Nc.996T>CSubstitution - coding silent
NDST2ENSG00000166507ENST00000309979p.R261Wc.781C>TSubstitution - Missense
ENST00000338294p.T49Tc.147C>TSubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.P3910Pc.11730G>ASubstitution - coding silent
TRIM68ENSG00000167333ENST00000300747p.S444Fc.1331C>TSubstitution - Missense
NAV3ENSG00000067798ENST00000397909p.I1531Ic.4593C>ASubstitution - coding silent
MTMR6ENSG00000139505ENST00000381801p.F364Lc.1092C>GSubstitution - Missense
RPS6KA4ENSG00000162302ENST00000334205p.P206Pc.618C>TSubstitution - coding silent
ACAD8ENSG00000151498ENST00000281182p.Y382Yc.1146C>TSubstitution - coding silent
SAAL1ENSG00000166788ENST00000524803p.E19_V20insEEc.40_41insAGGAGGInsertion - In frame
WDR66ENSG00000158023ENST00000288912p.S342Rc.1026C>ASubstitution - Missense
DNAJC1ENSG00000136770ENST00000376980p.L162Fc.484C>TSubstitution - Missense
TPRENSG00000047410ENST00000367478p.E1807Kc.5419G>ASubstitution - Missense
C10orf67ENSG00000179133ENST00000323327p.F60Lc.180C>GSubstitution - Missense
ZFYVE26ENSG00000072121ENST00000347230p.H277Hc.831T>CSubstitution - coding silent
PRAMEF2ENSG00000120952ENST00000240189p.S350Cc.1049C>GSubstitution - Missense
LGR6ENSG00000133067ENST00000367278p.Q374Hc.1122G>CSubstitution - Missense
NM_006575p.H833Rc.2498A>GSubstitution - Missense
LPHN2ENSG00000117114ENST00000370725p.Q329*c.985C>TSubstitution - Nonsense
PXDNLENSG00000147485ENST00000356297p.I463Nc.1388T>ASubstitution - Missense
INPP1ENSG00000151689ENST00000392329p.G194Gc.582G>ASubstitution - coding silent
ACTRT1ENSG00000123165ENST00000371124p.E110Ec.330G>ASubstitution - coding silent
ZNF700ENSG00000196757ENST00000254321p.R360Kc.1079G>ASubstitution - Missense
KIAA1239ENSG00000174145ENST00000309447p.E141Kc.421G>ASubstitution - Missense
C4orf26ENSG00000174792ENST00000311623p.I64Tc.191T>CSubstitution - Missense
MTERFENSG00000127989ENST00000351870p.E307Kc.919G>ASubstitution - Missense
STEAP2ENSG00000157214ENST00000394621p.L141Lc.423G>ASubstitution - coding silent
CD47ENSG00000196776ENST00000361309p.N111Dc.331A>GSubstitution - Missense
PRR14LENSG00000183530ENST00000327423p.S394Yc.1181C>ASubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.P1548Rc.4643C>GSubstitution - Missense
IQSEC2ENSG00000124313ENST00000396435p.V245Vc.735C>GSubstitution - coding silent
SHOX2ENSG00000168779ENST00000425436p.A320Ac.960C>GSubstitution - coding silent
SMEK2ENSG00000138041ENST00000345102p.S151Lc.452C>TSubstitution - Missense
WDR52ENSG00000206530ENST00000393845p.D684Nc.2050G>ASubstitution - Missense
SRRM2ENSG00000167978ENST00000301740p.D1606Hc.4816G>CSubstitution - Missense
NCAPH2ENSG00000025770ENST00000299821p.?c.1306+7G>AUnknown
MAGEE2ENSG00000186675ENST00000373359p.V139Vc.417C>ASubstitution - coding silent
DMXL1ENSG00000172869ENST00000311085p.E2558Gc.7673A>GSubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.R84Qc.251G>ASubstitution - Missense
RPAINENSG00000129197ENST00000405578p.R173Hc.518G>ASubstitution - Missense
ZXDAENSG00000198205ENST00000358697p.E579Qc.1735G>CSubstitution - Missense
VCX3BENSG00000205642ENST00000381029p.E199*c.595G>TSubstitution - Nonsense
DSTENSG00000151914ENST00000370769p.L589Vc.1765C>GSubstitution - Missense
PLXNB1ENSG00000164050ENST00000296440p.T1552Ac.4654A>GSubstitution - Missense
TTC29ENSG00000137473ENST00000325106p.C230Yc.689G>ASubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.E1164Kc.3490G>ASubstitution - Missense
SERPINI2ENSG00000114204ENST00000476257p.E102Kc.304G>ASubstitution - Missense
WDR62ENSG00000075702ENST00000270301p.R512Qc.1535G>ASubstitution - Missense
PCDHA1ENSG00000204970ENST00000378133p.P143Lc.428C>TSubstitution - Missense
NM_058004.1p.D343Ec.1029T>GSubstitution - Missense
FIGNENSG00000182263ENST00000333129p.M348Lc.1042A>CSubstitution - Missense
AFF2ENSG00000155966ENST00000286437p.E503Kc.1507G>ASubstitution - Missense
PREX1ENSG00000124126ENST00000371941p.S1029Cc.3086C>GSubstitution - Missense
WDR90ENSG00000161996ENST00000293879p.H1388Rc.4163A>GSubstitution - Missense
DOCK9ENSG00000088387ENST00000442173p.V1189Vc.3567G>ASubstitution - coding silent
SMARCAL1ENSG00000138375ENST00000357276p.D840Vc.2519A>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.A4222Vc.12665C>TSubstitution - Missense
FAM193AENSG00000125386ENST00000324666p.N1154Dc.3460A>GSubstitution - Missense
FLNBENSG00000136068ENST00000357272p.?c.1484-1G>AUnknown
SLIT3ENSG00000184347ENST00000404867p.?c.1296-7C>TUnknown
SPAG9ENSG00000008294ENST00000505279p.V1045Vc.3135G>TSubstitution - coding silent
PSG6ENSG00000170848ENST00000187910p.P173Lc.518C>TSubstitution - Missense
CBLBENSG00000114423ENST00000264122p.A903Sc.2707G>TSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.L882Lc.2646C>TSubstitution - coding silent
PCSK5ENSG00000099139ENST00000376767p.R243*c.727C>TSubstitution - Nonsense
DNAH14ENSG00000185842ENST00000430092p.N1395fs*22c.4172_4173insATInsertion - Frameshift
LIPFENSG00000182333ENST00000394375p.E64Qc.190G>CSubstitution - Missense
SU_OBSCN.1p.E6963Kc.20887G>ASubstitution - Missense
RHBGENSG00000132677ENST00000368246p.N37Hc.109A>CSubstitution - Missense
EDRF1ENSG00000107938ENST00000337623p.?c.635+8G>TUnknown
CD1DENSG00000158473ENST00000368171p.Q249*c.745C>TSubstitution - Nonsense
PTPREENSG00000132334ENST00000254667p.I598Vc.1792A>GSubstitution - Missense
NOP9ENSG00000196943ENST00000267425p.L591Lc.1773G>ASubstitution - coding silent
RPL11ENSG00000142676ENST00000374550p.V57Vc.171C>ASubstitution - coding silent
LDHAL6AENSG00000166800ENST00000280706p.D54Dc.162T>CSubstitution - coding silent
F5ENSG00000198734ENST00000367797p.I542Vc.1624A>GSubstitution - Missense
IPO7ENSG00000205339ENST00000379719p.Q683*c.2047C>TSubstitution - Nonsense
NOTCH2ENSG00000134250ENST00000256646p.E2137Qc.6409G>CSubstitution - Missense
ASPMENSG00000066279ENST00000367409p.R1488Ic.4463G>TSubstitution - Missense
ENST00000263528p.T67Ic.200C>TSubstitution - Missense
NXPE1ENSG00000095110ENST00000424269p.S186Rc.558T>ASubstitution - Missense
GNAT2ENSG00000134183ENST00000351050p.S252Sc.756C>TSubstitution - coding silent
ATP2B4ENSG00000058668ENST00000367218p.?c.3132+10G>AUnknown
DENND5AENSG00000184014ENST00000328194p.D1054Nc.3160G>ASubstitution - Missense
DAAM1ENSG00000100592ENST00000351081p.L371Qc.1112T>ASubstitution - Missense
BTBD3ENSG00000132640ENST00000378226p.Q431*c.1291C>TSubstitution - Nonsense
ENST00000331986p.L6401Fc.19203A>TSubstitution - Missense
RHOXF1ENSG00000101883ENST00000217999p.C158Fc.473G>TSubstitution - Missense
MAP2ENSG00000078018ENST00000199940p.K398Rc.1193A>GSubstitution - Missense
CCDC144AENSG00000170160ENST00000443444p.P409Pc.1227A>GSubstitution - coding silent
GLIS3ENSG00000107249ENST00000324333p.H310Hc.930T>CSubstitution - coding silent
DLGAP4ENSG00000080845ENST00000373913p.E304*c.910G>TSubstitution - Nonsense
BPIFB3ENSG00000186190ENST00000375494p.V28Lc.82G>CSubstitution - Missense
FAM92A1ENSG00000188343ENST00000518322p.D75Nc.223G>ASubstitution - Missense
LMAN2LENSG00000114988ENST00000377079p.Q171Hc.513G>CSubstitution - Missense
GNGT1ENSG00000127928ENST00000248572p.R41Tc.122G>CSubstitution - Missense
LMTK2ENSG00000164715ENST00000297293p.V165Vc.495C>GSubstitution - coding silent
HYAL3ENSG00000186792ENST00000336307p.?c.894+7G>AUnknown
CREB3L2ENSG00000182158ENST00000330387p.R16Pc.47G>CSubstitution - Missense
MC4RENSG00000166603ENST00000299766p.A259Ac.777C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.E14472Qc.43414G>CSubstitution - Missense
IGHV1OR21-1ENSG00000169861ENST00000302092p.F83Fc.249C>TSubstitution - coding silent
EFHBENSG00000163576ENST00000295824p.?c.1934-1G>TUnknown
TRIM59ENSG00000213186ENST00000309784p.E325Kc.973G>ASubstitution - Missense
ENST00000576222_v68p.C755Yc.2264G>ASubstitution - Missense
VAC14ENSG00000103043ENST00000261776p.R181Qc.542G>ASubstitution - Missense
BRD8ENSG00000112983ENST00000254900p.L879Lc.2637G>ASubstitution - coding silent
PSD2ENSG00000146005ENST00000274710p.G256Ec.767G>ASubstitution - Missense
MCF2ENSG00000101977ENST00000370578p.P593Pc.1779A>GSubstitution - coding silent
SNX18ENSG00000178996ENST00000343017p.?c.86-1G>AUnknown
ADAMTS6ENSG00000049192ENST00000381055p.?c.1224-9T>CUnknown
IQCHENSG00000103599ENST00000360277p.E217*c.649G>TSubstitution - Nonsense
PSME1ENSG00000092010ENST00000382708p.K155Kc.465G>ASubstitution - coding silent
SIPA1L2ENSG00000116991ENST00000308942p.M750Ic.2250G>ASubstitution - Missense
ARHGEF11ENSG00000132694ENST00000315174p.E44Ec.132G>ASubstitution - coding silent
TTC29ENSG00000137473ENST00000513335p.C256Yc.767G>ASubstitution - Missense
UNC13AENSG00000130477ENST00000252773p.L1034Vc.3100C>GSubstitution - Missense
ADAMTS6ENSG00000049192ENST00000536360p.D351Nc.1051G>ASubstitution - Missense
GRK6ENSG00000198055ENST00000528793p.E444Ec.1332G>ASubstitution - coding silent
MYH10ENSG00000133026ENST00000396239p.E1251Dc.3753G>TSubstitution - Missense
MED16ENSG00000175221ENST00000312090p.S680Sc.2040G>CSubstitution - coding silent
ZDHHC12ENSG00000160446ENST00000406904p.H167Nc.499C>ASubstitution - Missense
RASAL1ENSG00000111344ENST00000261729p.R731Gc.2191C>GSubstitution - Missense
PKMENSG00000067225ENST00000319622p.L74Lc.222G>ASubstitution - coding silent
KRT3ENSG00000186442ENST00000417996p.L495Vc.1483C>GSubstitution - Missense
TECTAENSG00000109927ENST00000392793p.V1545Ic.4633G>ASubstitution - Missense
WDR73ENSG00000177082ENST00000434634p.L366Vc.1096C>GSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.L3749Lc.11247C>TSubstitution - coding silent
NR2C1ENSG00000120798ENST00000333003p.S302Rc.906C>ASubstitution - Missense
TEX30ENSG00000151287ENST00000376021p.D81Nc.241G>ASubstitution - Missense
TRPC4ENSG00000133107ENST00000379681p.S32Lc.95C>TSubstitution - Missense
DNHD1ENSG00000179532ENST00000254579p.R1755Cc.5263C>TSubstitution - Missense
OCA2ENSG00000104044ENST00000382996p.L639Lc.1917C>GSubstitution - coding silent
TAOK3ENSG00000135090ENST00000419821p.I388Ic.1164C>TSubstitution - coding silent
PRAMEF1ENSG00000116721ENST00000332296p.A80Ac.240A>GSubstitution - coding silent
FAM161BENSG00000156050ENST00000286544p.A397Tc.1189G>ASubstitution - Missense
CIB1ENSG00000185043ENST00000328649p.S180Yc.539C>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.A1013Vc.3038C>TSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.S2259Rc.6777C>ASubstitution - Missense
ENST00000271311_v71p.E506Qc.1516G>CSubstitution - Missense
UBCENSG00000150991ENST00000339647p.F156Fc.468C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369354p.Q1968*c.5902C>TSubstitution - Nonsense
PAPPA2ENSG00000116183ENST00000367662p.P1679Tc.5035C>ASubstitution - Missense
UBXN10ENSG00000162543ENST00000375099p.S41_A42insHMIRPKSc.102_103ins21Insertion - In frame
PIK3C2BENSG00000133056ENST00000367187p.T879Nc.2636C>ASubstitution - Missense
NID2ENSG00000087303ENST00000216286p.I342Nc.1025T>ASubstitution - Missense
OR2T11ENSG00000183130ENST00000330803p.L217Lc.651C>TSubstitution - coding silent
RASA3ENSG00000185989ENST00000334062p.?c.531-8G>CUnknown
MUC16ENSG00000181143ENST00000397910p.K4789Nc.14367G>TSubstitution - Missense
ENST00000300671p.L593Lc.1777C>TSubstitution - coding silent
FLNBENSG00000136068ENST00000295956p.?c.3127-7C>GUnknown
POP1ENSG00000104356ENST00000349693p.E369Kc.1105G>ASubstitution - Missense
ENST00000360228_v70p.A875Vc.2624C>TSubstitution - Missense
SAMD9ENSG00000205413ENST00000379958p.E1311Qc.3931G>CSubstitution - Missense
SLC7A2ENSG00000003989ENST00000470360p.?c.1415+10C>AUnknown
CYP3A43ENSG00000021461ENST00000222382p.W72Sc.215G>CSubstitution - Missense
PLECENSG00000178209ENST00000354958p.R3198Qc.9593G>ASubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.H1728Hc.5184C>TSubstitution - coding silent
OSBP2ENSG00000184792ENST00000332585p.S212Cc.635C>GSubstitution - Missense
TBCKENSG00000145348ENST00000273980p.I430Vc.1288A>GSubstitution - Missense
RLTPRENSG00000159753ENST00000334583p.R425Sc.1275G>TSubstitution - Missense
RRM2ENSG00000171848ENST00000360566p.R138Cc.412C>TSubstitution - Missense
DPP10ENSG00000175497ENST00000310323p.E437Ec.1311A>GSubstitution - coding silent
DMDENSG00000198947ENST00000357033p.E1130*c.3388G>TSubstitution - Nonsense
NOVA2ENSG00000104967ENST00000263257p.P488Pc.1464C>TSubstitution - coding silent
CUX1ENSG00000257923ENST00000292538p.R444Cc.1330C>TSubstitution - Missense
KLC4ENSG00000137171ENST00000259708p.E119Ec.357G>ASubstitution - coding silent
SRCAPENSG00000080603ENST00000262518p.L1226Vc.3676C>GSubstitution - Missense
PLA2R1ENSG00000153246ENST00000283243p.M1133Ic.3399G>ASubstitution - Missense
ITGA2ENSG00000164171ENST00000296585p.T337Tc.1011A>GSubstitution - coding silent
ADAMTS16ENSG00000145536ENST00000274181p.P200Lc.599C>TSubstitution - Missense
GOLGA6AENSG00000159289ENST00000290438p.G499Gc.1497A>GSubstitution - coding silent
LGR6ENSG00000133067ENST00000255432p.Q322Hc.966G>CSubstitution - Missense
SYNE2ENSG00000054654ENST00000357395p.E3009Dc.9027G>CSubstitution - Missense
SLC16A1ENSG00000155380ENST00000433570p.L164Lc.492C>GSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369351p.A167Dc.500C>ASubstitution - Missense
GATAD2AENSG00000167491ENST00000404158p.L148Lc.444G>ASubstitution - coding silent
ENST00000402738_v70p.G846Gc.2538G>TSubstitution - coding silent
LGSNENSG00000146166ENST00000485906p.S269Cc.806C>GSubstitution - Missense
DHX33ENSG00000005100ENST00000225296p.T644Tc.1932G>ASubstitution - coding silent
ZNF254ENSG00000213096ENST00000357002p.L109Lc.327G>ASubstitution - coding silent
SLC39A10ENSG00000196950ENST00000359634p.Y62fs*4c.175_176insAInsertion - Frameshift
KIF1BENSG00000054523ENST00000263934p.N270Sc.809A>GSubstitution - Missense
ITGA2ENSG00000164171ENST00000296585p.M109Ic.327G>ASubstitution - Missense
TMEM202ENSG00000187806ENST00000341689p.?c.338-7C>TUnknown
CR1LENSG00000197721ENST00000508064p.F566Cc.1697T>GSubstitution - Missense
HSPA8ENSG00000109971ENST00000532636p.S296Fc.887C>TSubstitution - Missense
ARAP1ENSG00000186635ENST00000334211p.A926Ac.2778C>TSubstitution - coding silent
ST8SIA1ENSG00000111728ENST00000396037p.Q305Hc.915G>TSubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.I1232Mc.3696C>GSubstitution - Missense
SLC29A2ENSG00000174669ENST00000357440p.G150Gc.450G>ASubstitution - coding silent
C1orf112ENSG00000000460ENST00000286031p.D153Nc.457G>ASubstitution - Missense
MYBPC1ENSG00000196091ENST00000361466p.M1055fs*3c.3161_3174del14Deletion - Frameshift
MAML2ENSG00000184384ENST00000524717p.Q903*c.2707C>TSubstitution - Nonsense
GPR83ENSG00000123901ENST00000243673p.R285Lc.854G>TSubstitution - Missense
DNAJC12ENSG00000108176ENST00000225171p.?c.297+6T>GUnknown
DNAJC12ENSG00000108176ENST00000339758p.G101Gc.303T>GSubstitution - coding silent
DNHD1ENSG00000179532ENST00000254579p.R413Cc.1237C>TSubstitution - Missense
BRCA2ENSG00000139618ENST00000544455p.Q2829Pc.8486A>CSubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.V2460Vc.7380A>GSubstitution - coding silent
NM_002837.2p.S1658Rc.4974C>ASubstitution - Missense
C12orf77ENSG00000226397ENST00000549828p.R123Sc.369A>TSubstitution - Missense
RENENSG00000143839ENST00000272190p.R43Qc.128G>ASubstitution - Missense
ATP2B4ENSG00000058668ENST00000357681p.?c.3132+10G>AUnknown
SOS2ENSG00000100485ENST00000216373p.K236Nc.708A>TSubstitution - Missense
PLEKHN1ENSG00000187583ENST00000379409p.Y223Cc.668A>GSubstitution - Missense
ZBTB1ENSG00000126804ENST00000394712p.E315Gc.944A>GSubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.Y1078*c.3234C>GSubstitution - Nonsense
DCAF12L2ENSG00000198354ENST00000360028p.L373Lc.1119C>TSubstitution - coding silent
TNRC6CENSG00000078687ENST00000335749p.R1343Qc.4028G>ASubstitution - Missense
DPM1ENSG00000000419ENST00000371588p.?c.261+1G>AUnknown
NM_032682.3p.H195Hc.585C>TSubstitution - coding silent
CNTN3ENSG00000113805ENST00000263665p.T199Ic.596C>TSubstitution - Missense
B3GALT5ENSG00000183778ENST00000380618p.V200Vc.600C>TSubstitution - coding silent
ABCA7ENSG00000064687ENST00000263094p.R1912Hc.5735G>ASubstitution - Missense
KLBENSG00000134962ENST00000257408p.G891Dc.2672G>ASubstitution - Missense
PITPNBENSG00000180957ENST00000335272p.?c.534+5T>GUnknown
FRAS1ENSG00000138759ENST00000325942p.C875Cc.2625C>TSubstitution - coding silent
ADH1AENSG00000187758ENST00000209668p.R272Wc.814C>TSubstitution - Missense
DMDENSG00000198947ENST00000378723p.E395*c.1183G>TSubstitution - Nonsense
SLC25A40ENSG00000075303ENST00000341119p.G82Ec.245G>ASubstitution - Missense
MPPED1ENSG00000186732ENST00000417669p.A57Gc.170C>GSubstitution - Missense
SRRM2ENSG00000167978ENST00000301740p.R1758Rc.5274G>ASubstitution - coding silent
IQGAP2ENSG00000145703ENST00000274364p.D1515Hc.4543G>CSubstitution - Missense
CACNA1BENSG00000148408ENST00000371372p.Q1990Lc.5969A>TSubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.R3289Hc.9866G>ASubstitution - Missense
SETD2ENSG00000181555ENST00000330022p.Q1247Hc.3741G>CSubstitution - Missense
TRMT11ENSG00000066651ENST00000334379p.?c.73-8C>TUnknown
PHF3ENSG00000118482ENST00000262043p.P1893Pc.5679A>TSubstitution - coding silent
CACNA1GENSG00000006283ENST00000359106p.A1089Sc.3265G>TSubstitution - Missense
PEX12ENSG00000108733ENST00000225873p.F8Lc.24C>ASubstitution - Missense
NAALADL2ENSG00000177694ENST00000454872p.S466Gc.1396A>GSubstitution - Missense
XM_042066p.T779fs*62c.2332_2333insCInsertion - Frameshift
CYP21A2ENSG00000231852ENST00000418967p.E247fs*11c.740delADeletion - Frameshift
CRIP3ENSG00000146215ENST00000372569p.A45Ac.135A>CSubstitution - coding silent
MON2ENSG00000061987ENST00000280379p.S523Lc.1568C>TSubstitution - Missense
SEPHS2ENSG00000179918ENST00000478753p.S392Yc.1175C>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.E3134Qc.9400G>CSubstitution - Missense
CDH1ENSG00000039068ENST00000261769p.R74*c.220C>TSubstitution - Nonsense
NPFFR2ENSG00000056291ENST00000308744p.R293*c.877C>TSubstitution - Nonsense
ATP11CENSG00000101974ENST00000327569p.L921Lc.2761T>CSubstitution - coding silent
BNIPLENSG00000163141ENST00000295294p.R227Qc.680G>ASubstitution - Missense
MVKENSG00000110921ENST00000228510p.S314Fc.941C>TSubstitution - Missense
TECTAENSG00000109927ENST00000392793p.F145Fc.435C>TSubstitution - coding silent
CAMK2GENSG00000148660ENST00000322680p.H498Hc.1494C>TSubstitution - coding silent
EIF4G3ENSG00000075151ENST00000356916p.T41Pc.121A>CSubstitution - Missense
SIPA1L2ENSG00000116991ENST00000366630p.M1694Ic.5082G>ASubstitution - Missense
P2RX2ENSG00000187848ENST00000343948p.Y306Hc.916T>CSubstitution - Missense
VWFENSG00000110799ENST00000261405p.E1389Ec.4167G>ASubstitution - coding silent
KLHL35ENSG00000149243ENST00000539798p.W329Rc.985T>ASubstitution - Missense
PFKFB3ENSG00000170525ENST00000379785p.?c.1277-9G>AUnknown
NR1I3ENSG00000143257ENST00000428574p.A162Tc.484G>ASubstitution - Missense
DYNC2H1ENSG00000187240ENST00000398093p.E1252Ac.3755A>CSubstitution - Missense
FMO5ENSG00000131781ENST00000254090p.M145Ic.435G>TSubstitution - Missense
SIPA1L1ENSG00000197555ENST00000555818p.E1173Kc.3517G>ASubstitution - Missense
TMEM132DENSG00000151952ENST00000422113p.S416Pc.1246T>CSubstitution - Missense
ENST00000409977_v68p.C98*c.294C>ASubstitution - Nonsense
VSTM5ENSG00000214376ENST00000409977p.A87Gc.260C>GSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.D428Nc.1282G>ASubstitution - Missense
LAMC2ENSG00000058085ENST00000264144p.R850Cc.2548C>TSubstitution - Missense
CEP128ENSG00000100629ENST00000216517p.H162Yc.484C>TSubstitution - Missense
SLC12A1ENSG00000074803ENST00000380993p.R1048Tc.3143G>CSubstitution - Missense
OR2T12ENSG00000177201ENST00000317996p.C95Yc.284G>ASubstitution - Missense
DPYDENSG00000188641ENST00000370192p.E382Dc.1146A>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.N2046Nc.6138T>CSubstitution - coding silent
EFCAB13ENSG00000178852ENST00000331493p.E66Qc.196G>CSubstitution - Missense
NM_004259.4p.Q873Ec.2617C>GSubstitution - Missense
CDRT1ENSG00000241322ENST00000395906p.P739Pc.2217G>TSubstitution - coding silent
RIPK4ENSG00000183421ENST00000352483p.S413fs*58c.1237delTDeletion - Frameshift
COMMD8ENSG00000169019ENST00000381571p.L182Fc.546G>CSubstitution - Missense
ENST00000378243p.?c.441+3G>CUnknown
DNAH7ENSG00000118997ENST00000312428p.D1568Yc.4702G>TSubstitution - Missense
NIF3L1ENSG00000196290ENST00000359683p.P99Tc.295C>ASubstitution - Missense
FRG1BENSG00000149531ENST00000278882p.?c.537-2A>GUnknown
ZNF610ENSG00000167554ENST00000327920p.Q78Rc.233A>GSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.D693Hc.2077G>CSubstitution - Missense
HERC3ENSG00000138641ENST00000402738p.G846Gc.2538G>TSubstitution - coding silent
C3orf20ENSG00000131379ENST00000253697p.C746Cc.2238C>TSubstitution - coding silent
PRMT7ENSG00000132600ENST00000339507p.K291Nc.873G>TSubstitution - Missense
P2RY1ENSG00000169860ENST00000305097p.R340Rc.1020G>ASubstitution - coding silent
CLHC1ENSG00000162994ENST00000407122p.E77Qc.229G>CSubstitution - Missense
ACSL3ENSG00000123983ENST00000357430p.F624Vc.1870T>GSubstitution - Missense
DMDENSG00000198947ENST00000357033p.E3463*c.10387G>TSubstitution - Nonsense
MUC17ENSG00000169876ENST00000306151p.E645Kc.1933G>ASubstitution - Missense
SMEK2ENSG00000138041ENST00000272313p.S151Lc.452C>TSubstitution - Missense
LIG1ENSG00000105486ENST00000263274p.D784Nc.2350G>ASubstitution - Missense
COL4A3BPENSG00000113163ENST00000405807p.F86Yc.257T>ASubstitution - Missense
CRLF1ENSG00000006016ENST00000392386p.L100Lc.300G>ASubstitution - coding silent
ROS1ENSG00000047936ENST00000368508p.S661Lc.1982C>TSubstitution - Missense
RFPL4BENSG00000251258ENST00000441065p.S157Sc.471A>CSubstitution - coding silent
BRD9ENSG00000028310ENST00000323510p.D304Nc.910G>ASubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.M4511Kc.13532T>ASubstitution - Missense
LRPPRCENSG00000138095ENST00000260665p.D1034Yc.3100G>TSubstitution - Missense
HKR1ENSG00000181666ENST00000324411p.Q424Qc.1272G>ASubstitution - coding silent
SLC25A2ENSG00000120329ENST00000239451p.F169Lc.507C>ASubstitution - Missense
PKN1ENSG00000123143ENST00000342216p.?c.2234+9G>CUnknown
FAM219BENSG00000178761ENST00000357635p.S102Sc.306A>GSubstitution - coding silent
CR2ENSG00000117322ENST00000367057p.?c.1571-8C>AUnknown
METTL1ENSG00000037897ENST00000324871p.D65Yc.193G>TSubstitution - Missense
FANCIENSG00000140525ENST00000300027p.D28Nc.82G>ASubstitution - Missense
AIPENSG00000110711ENST00000279146p.D317Dc.951C>TSubstitution - coding silent
DNHD1ENSG00000179532ENST00000354685p.Q74Qc.222G>ASubstitution - coding silent
ITLN2ENSG00000158764ENST00000368029p.?c.194-8C>GUnknown
XM_052561.7p.K1537Nc.4611G>CSubstitution - Missense
SYNMENSG00000182253ENST00000328642p.E532*c.1594G>TSubstitution - Nonsense
PCDH15ENSG00000150275ENST00000414778p.S1641Yc.4922C>ASubstitution - Missense
NM_002837.2p.V1837fs*44c.5510delTDeletion - Frameshift
NINJ2ENSG00000171840ENST00000305108p.A153Ac.459A>GSubstitution - coding silent
SHEENSG00000169291ENST00000304760p.L487Lc.1461C>GSubstitution - coding silent
ULK1ENSG00000177169ENST00000321867p.D576Nc.1726G>ASubstitution - Missense
DENND4AENSG00000174485ENST00000443035p.N1152Hc.3454A>CSubstitution - Missense
ITGA11ENSG00000137809ENST00000315757p.K872Nc.2616G>TSubstitution - Missense
PLEKHN1ENSG00000187583ENST00000379410p.Y183Cc.548A>GSubstitution - Missense
ATP12AENSG00000075673ENST00000381946p.V614Vc.1842G>TSubstitution - coding silent
DLL4ENSG00000128917ENST00000249749p.D404Nc.1210G>ASubstitution - Missense
FSIP2ENSG00000188738ENST00000343098p.S976Rc.2928C>ASubstitution - Missense
CHADENSG00000136457ENST00000258969p.V221Vc.663G>CSubstitution - coding silent
SGCAENSG00000108823ENST00000262018p.G339Rc.1015G>ASubstitution - Missense
SUSD3ENSG00000157303ENST00000375472p.L72Lc.216C>TSubstitution - coding silent
CEP89ENSG00000121289ENST00000305768p.?c.625-9C>AUnknown
PHF2ENSG00000197724ENST00000359246p.S757Tc.2270G>CSubstitution - Missense
FLNCENSG00000128591ENST00000325888p.K349Nc.1047G>CSubstitution - Missense
AASSENSG00000008311ENST00000393376p.G510*c.1528G>TSubstitution - Nonsense
STARD7ENSG00000084090ENST00000337288p.E87Qc.259G>CSubstitution - Missense
RIPK4ENSG00000183421ENST00000332512p.S365fs*58c.1093delTDeletion - Frameshift
PLECENSG00000178209ENST00000322810p.R3357Qc.10070G>ASubstitution - Missense
EEF1DENSG00000104529ENST00000442189p.D61Nc.181G>ASubstitution - Missense
ARHGDIGENSG00000242173ENST00000219409p.L147Lc.441C>TSubstitution - coding silent
GAL3ST1ENSG00000128242ENST00000338911p.L278Lc.834C>TSubstitution - coding silent
ZNF600ENSG00000189190ENST00000338230p.Q425*c.1273C>TSubstitution - Nonsense
REPS1ENSG00000135597ENST00000258062p.E725Gc.2174A>GSubstitution - Missense
FAM96BENSG00000166595ENST00000422424p.D77Nc.229G>ASubstitution - Missense
IYDENSG00000009765ENST00000392256p.L236Lc.708G>ASubstitution - coding silent
NYAP1ENSG00000166924ENST00000300179p.E18Qc.52G>CSubstitution - Missense
TXNRD3ENSG00000197763ENST00000524230p.Q547Rc.1640A>GSubstitution - Missense
DGKDENSG00000077044ENST00000264057p.A700Ac.2100T>CSubstitution - coding silent
OFCC1ENSG00000181355ENST00000316020p.K34fs*7c.99_100insCInsertion - Frameshift
NYAP1ENSG00000166924ENST00000300179p.D312Nc.934G>ASubstitution - Missense
BRD1ENSG00000100425ENST00000216267p.G334Gc.1002C>TSubstitution - coding silent
IFI30ENSG00000216490ENST00000407280p.G212Rc.634G>CSubstitution - Missense
RRAGBENSG00000083750ENST00000262850p.R144Qc.431G>ASubstitution - Missense
FKBP5ENSG00000096060ENST00000536438p.D145Dc.435T>CSubstitution - coding silent
SNCAIPENSG00000064692ENST00000379533p.G242Ac.725G>CSubstitution - Missense
CLVS2ENSG00000146352ENST00000275162p.I136Nc.407T>ASubstitution - Missense
CLVS2ENSG00000146352ENST00000275162p.I136Nc.407T>ASubstitution - Missense
COL9A1ENSG00000112280ENST00000320755p.S392Fc.1175C>TSubstitution - Missense
UBQLN1ENSG00000135018ENST00000376395p.L554Lc.1662C>TSubstitution - coding silent
CACNA1GENSG00000006283ENST00000359106p.A1089Sc.3265G>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000354983p.A1066Sc.3196G>TSubstitution - Missense
CSF1RENSG00000182578ENST00000286301p.F233Fc.699T>CSubstitution - coding silent
GKAP1ENSG00000165113ENST00000376371p.A92Tc.274G>ASubstitution - Missense
PCDHB12ENSG00000120328ENST00000239450p.S384Fc.1151C>TSubstitution - Missense
PCDHB7ENSG00000113212ENST00000231137p.L403Lc.1209G>CSubstitution - coding silent
LAMA2ENSG00000196569ENST00000421865p.C1391*c.4173T>ASubstitution - Nonsense
GBASENSG00000146729ENST00000322090p.?c.93-8T>AUnknown
NEBENSG00000183091ENST00000397345p.L52Qc.155T>ASubstitution - Missense
SPATA18ENSG00000163071ENST00000295213p.E372Kc.1114G>ASubstitution - Missense
SCN2AENSG00000136531ENST00000375437p.V1262Lc.3784G>CSubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.Q3407Hc.10221G>CSubstitution - Missense
ASTN2ENSG00000148219ENST00000313400p.L969Lc.2907C>TSubstitution - coding silent
CILP2ENSG00000160161ENST00000291495p.Q566Hc.1698G>CSubstitution - Missense
C17orf66ENSG00000172653ENST00000311880p.A201Ac.603C>ASubstitution - coding silent
NDUFA4ENSG00000189043ENST00000339600p.Q8Ec.22C>GSubstitution - Missense
ENST00000342288p.M1080Vc.3238A>GSubstitution - Missense
TMEM74ENSG00000164841ENST00000297459p.N263Kc.789C>GSubstitution - Missense
SUMF2ENSG00000129103ENST00000275607p.L11Vc.31C>GSubstitution - Missense
FOXK1ENSG00000164916ENST00000328914p.I125Ic.375C>TSubstitution - coding silent
AFF2ENSG00000155966ENST00000370460p.E862Kc.2584G>ASubstitution - Missense
ZNF780BENSG00000128000ENST00000434248p.R602*c.1804C>TSubstitution - Nonsense
PRRC2BENSG00000130723ENST00000357304p.?c.1912-10C>TUnknown
CDC42BPAENSG00000143776ENST00000366765p.?c.3492+5G>TUnknown
NLRP7ENSG00000167634ENST00000446217p.T231Mc.692C>TSubstitution - Missense
COL3A1ENSG00000168542ENST00000317840p.P385Sc.1153C>TSubstitution - Missense
SIKE1ENSG00000052723ENST00000369528p.K123Ec.367A>GSubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.K2925Nc.8775A>TSubstitution - Missense
CACNA1BENSG00000148408ENST00000277549p.Q1184Lc.3551A>TSubstitution - Missense
VCXENSG00000182583ENST00000381059p.E119Kc.355G>ASubstitution - Missense
CCDC33ENSG00000140481ENST00000321288p.E628Kc.1882G>ASubstitution - Missense
PLD1ENSG00000075651ENST00000351298p.Y459Cc.1376A>GSubstitution - Missense
KRT3ENSG00000186442ENST00000417996p.H452Yc.1354C>TSubstitution - Missense
CCDC15ENSG00000149548ENST00000344762p.E316*c.946G>TSubstitution - Nonsense
LIPFENSG00000182333ENST00000238983p.E54Qc.160G>CSubstitution - Missense
PTPREENSG00000132334ENST00000306042p.I540Vc.1618A>GSubstitution - Missense
CAPN9ENSG00000135773ENST00000271971p.A441Tc.1321G>ASubstitution - Missense
NID1ENSG00000116962ENST00000264187p.R123Pc.368G>CSubstitution - Missense
TEX30ENSG00000151287ENST00000376019p.D81Nc.241G>ASubstitution - Missense
DCAF11ENSG00000100897ENST00000559115p.R123Sc.369G>TSubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.Q2829Pc.8486A>CSubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.P1152Pc.3456C>TSubstitution - coding silent
SAA1ENSG00000173432ENST00000356524p.S40Cc.119C>GSubstitution - Missense
KIAA1217ENSG00000120549ENST00000376454p.F1623Fc.4869C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.E1140Kc.3418G>ASubstitution - Missense
PNNENSG00000100941ENST00000216832p.E463Qc.1387G>CSubstitution - Missense
HOOK1ENSG00000134709ENST00000371208p.R614Tc.1841G>CSubstitution - Missense
CDRT1ENSG00000241322ENST00000354433p.P239Pc.717G>TSubstitution - coding silent
FLNBENSG00000136068ENST00000490882p.?c.3127-7C>GUnknown
ACO1ENSG00000122729ENST00000309951p.D868Nc.2602G>ASubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.E982Kc.2944G>ASubstitution - Missense
USP43ENSG00000154914ENST00000285199p.S821Yc.2462C>ASubstitution - Missense
KCNB2ENSG00000182674ENST00000523207p.F890Fc.2670T>CSubstitution - coding silent
AKAP9ENSG00000127914ENST00000356239p.E2755Kc.8263G>ASubstitution - Missense
CDK6ENSG00000105810ENST00000265734p.D275Hc.823G>CSubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.H1841Hc.5523C>TSubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.C875Cc.2625C>TSubstitution - coding silent
IQCJ-SCHIP1ENSG00000250588ENST00000337808p.I262Mc.786C>GSubstitution - Missense
RETSATENSG00000042445ENST00000295802p.E361Kc.1081G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.E3324Kc.9970G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.E3331Kc.9991G>ASubstitution - Missense
STXBP5ENSG00000164506ENST00000321680p.T784Tc.2352A>GSubstitution - coding silent
ABCB5ENSG00000004846ENST00000443026p.Q79*c.235C>TSubstitution - Nonsense
PNPT1ENSG00000138035ENST00000447944p.A680Vc.2039C>TSubstitution - Missense
MPPED1ENSG00000186732ENST00000538182p.A90Gc.269C>GSubstitution - Missense
NCAPH2ENSG00000025770ENST00000299821p.?c.1306+8C>TUnknown
ZNF345ENSG00000251247ENST00000420450p.E255Qc.763G>CSubstitution - Missense
VPS13AENSG00000197969ENST00000376634p.L678Lc.2032C>TSubstitution - coding silent
TRIM27ENSG00000204713ENST00000377199p.?c.517-10G>AUnknown
TRIM27ENSG00000204713ENST00000377199p.L29Lc.87C>ASubstitution - coding silent
PABPC1LENSG00000101104ENST00000217073p.Y421Cc.1262A>GSubstitution - Missense
PI4KAENSG00000241973ENST00000572273p.D343Ec.1029T>GSubstitution - Missense
NAA16ENSG00000172766ENST00000379367p.Q142*c.424C>TSubstitution - Nonsense
FGFR1ENSG00000077782ENST00000341462p.R54Cc.160C>TSubstitution - Missense
GLRX2ENSG00000023572ENST00000367440p.E163*c.487G>TSubstitution - Nonsense
KCNMA1ENSG00000156113ENST00000404857p.A92Pc.274G>CSubstitution - Missense
PKMENSG00000067225ENST00000335181p.L74Lc.222G>ASubstitution - coding silent
PNMAL1ENSG00000182013ENST00000438932p.E122Kc.364G>ASubstitution - Missense
SEPHS2ENSG00000179918ENST00000500504p.L435Fc.1303C>TSubstitution - Missense
PNMAL1ENSG00000182013ENST00000313683p.E122Kc.364G>ASubstitution - Missense
ARHGEF28ENSG00000214944ENST00000287898p.R254Tc.761G>CSubstitution - Missense
SLC6A20ENSG00000163817ENST00000353278p.F360Fc.1080C>TSubstitution - coding silent
CACNA1IENSG00000100346ENST00000402142p.N1574Nc.4722T>CSubstitution - coding silent
CKMT2ENSG00000131730ENST00000254035p.E380Dc.1140G>TSubstitution - Missense
TNIKENSG00000154310ENST00000436636p.G966Ec.2897G>ASubstitution - Missense
VPS13AENSG00000197969ENST00000357409p.L678Lc.2032C>TSubstitution - coding silent
ENST00000372191p.D425Yc.1273G>TSubstitution - Missense
ZKSCAN1ENSG00000106261ENST00000324306p.G523Gc.1569C>ASubstitution - coding silent
ZNF398ENSG00000197024ENST00000475153p.C457Sc.1370G>CSubstitution - Missense
URGCPENSG00000106608ENST00000453200p.E807Gc.2420A>GSubstitution - Missense
SLC32A1ENSG00000101438ENST00000217420p.L445Lc.1335C>ASubstitution - coding silent
UNC5AENSG00000113763ENST00000329542p.E301*c.901G>TSubstitution - Nonsense
POLHENSG00000170734ENST00000372236p.A469Vc.1406C>TSubstitution - Missense
PGPENSG00000184207ENST00000333503p.I277Mc.831C>GSubstitution - Missense
LPHN2ENSG00000117114ENST00000370715p.Q329*c.985C>TSubstitution - Nonsense
XM_044166.8p.D231Nc.691G>ASubstitution - Missense
COL20A1ENSG00000101203ENST00000422202p.L683Pc.2048T>CSubstitution - Missense
UNC13CENSG00000137766ENST00000545554p.D2195Ac.6584A>CSubstitution - Missense
GRB7ENSG00000141738ENST00000445327p.D27Nc.79G>ASubstitution - Missense
SYBUENSG00000147642ENST00000422135p.T117Tc.351G>ASubstitution - coding silent
DIP2AENSG00000160305ENST00000417564p.Y582Yc.1746C>TSubstitution - coding silent
FRAS1ENSG00000138759ENST00000325942p.L882Lc.2646C>TSubstitution - coding silent
MSNENSG00000147065ENST00000360270p.R435Lc.1304G>TSubstitution - Missense
KIF1BENSG00000054523ENST00000377093p.N270Sc.809A>GSubstitution - Missense
ENST00000328974p.S78Pc.232T>CSubstitution - Missense
NUP133ENSG00000069248ENST00000261396p.I1058Vc.3172A>GSubstitution - Missense
CDHR5ENSG00000099834ENST00000358353p.?c.881-5C>TUnknown
NM_000655.2p.S83Cc.247A>TSubstitution - Missense
BIRC2ENSG00000110330ENST00000227758p.K546Kc.1638G>ASubstitution - coding silent
HMCN1ENSG00000143341ENST00000271588p.S3452Cc.10355C>GSubstitution - Missense
ANKRD26ENSG00000107890ENST00000376087p.E533Qc.1597G>CSubstitution - Missense
IQCKENSG00000174628ENST00000320394p.L209Lc.627C>GSubstitution - coding silent
ENST00000322367p.T223Tc.669A>GSubstitution - coding silent
NEDD4ENSG00000069869ENST00000338963p.F982Fc.2946C>TSubstitution - coding silent
PRDM2ENSG00000116731ENST00000376048p.?c.655+5G>AUnknown
HERC1ENSG00000103657ENST00000443617p.L1562Lc.4686G>TSubstitution - coding silent
KPNA2ENSG00000182481ENST00000330459p.S152Lc.455C>TSubstitution - Missense
SPECC1ENSG00000128487ENST00000395527p.T94Rc.281C>GSubstitution - Missense
KCNS2ENSG00000156486ENST00000287042p.T34Rc.101C>GSubstitution - Missense
GABRA4ENSG00000109158ENST00000264318p.?c.874+6T>GUnknown
GABRG1ENSG00000163285ENST00000295452p.V310Fc.928G>TSubstitution - Missense
LSSENSG00000160285ENST00000397728p.?c.1564+3G>AUnknown
SERPINB12ENSG00000166634ENST00000269491p.S36Sc.108A>GSubstitution - coding silent
LRCH3ENSG00000186001ENST00000425562p.R413Qc.1238G>ASubstitution - Missense
XM_372202.2p.A247Sc.739G>TSubstitution - Missense
PRR14LENSG00000183530ENST00000397493p.S394Yc.1181C>ASubstitution - Missense
CACNG8ENSG00000142408ENST00000270458p.E195delEc.580_582delGAGDeletion - In frame
SCN10AENSG00000185313ENST00000449082p.E825Gc.2474A>GSubstitution - Missense
RLTPRENSG00000159753ENST00000334583p.R385Sc.1155G>TSubstitution - Missense
CCDC138ENSG00000163006ENST00000295124p.L404Fc.1212G>TSubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.K1792Ic.5375A>TSubstitution - Missense
CCDC127ENSG00000164366ENST00000296824p.Q229Qc.687G>ASubstitution - coding silent
LARP1BENSG00000138709ENST00000427266p.V384Mc.1150G>ASubstitution - Missense
CEP68ENSG00000011523ENST00000377990p.N87Sc.260A>GSubstitution - Missense
CHPFENSG00000123989ENST00000243776p.S409Lc.1226C>TSubstitution - Missense
SH3BP4ENSG00000130147ENST00000344528p.E229Kc.685G>ASubstitution - Missense
BRCC3ENSG00000185515ENST00000369462p.A108Ac.324T>CSubstitution - coding silent
GRM3ENSG00000198822ENST00000361669p.L363Fc.1087C>TSubstitution - Missense
ARHGAP25ENSG00000163219ENST00000409202p.W433Cc.1299G>TSubstitution - Missense
UPK3AENSG00000100373ENST00000216211p.F30Fc.90C>TSubstitution - coding silent
TOPAZ1ENSG00000173769ENST00000309765p.E189Qc.565G>CSubstitution - Missense
ZNF517ENSG00000197363ENST00000359971p.L193Lc.579C>TSubstitution - coding silent
CREB3L2ENSG00000182158ENST00000456390p.R16Pc.47G>CSubstitution - Missense
NM_003319p.E14280Qc.42838G>CSubstitution - Missense
CST2ENSG00000170369ENST00000304725p.R43Wc.127C>TSubstitution - Missense
MYH15ENSG00000144821ENST00000273353p.A1282Ac.3846A>GSubstitution - coding silent
DAPP1ENSG00000070190ENST00000512369p.Q222Kc.664C>ASubstitution - Missense
CRIM1ENSG00000150938ENST00000280527p.G362Gc.1086C>TSubstitution - coding silent
SSX1ENSG00000126752ENST00000376919p.K172Tc.515A>CSubstitution - Missense
PTPN13ENSG00000163629ENST00000436978p.E1040Ec.3120A>GSubstitution - coding silent
ADAM9ENSG00000168615ENST00000487273p.S379Sc.1137C>GSubstitution - coding silent
CTNNA2ENSG00000066032ENST00000466387p.D520Nc.1558G>ASubstitution - Missense
CSRNP1ENSG00000144655ENST00000273153p.S363Sc.1089G>ASubstitution - coding silent
ABCA6ENSG00000154262ENST00000284425p.E1475Kc.4423G>ASubstitution - Missense
UGT1A10ENSG00000242515ENST00000344644p.L147Lc.439C>TSubstitution - coding silent
CCDC74AENSG00000163040ENST00000467992p.S46Sc.138C>TSubstitution - coding silent
APOBRENSG00000184730ENST00000328423p.E429Kc.1285G>ASubstitution - Missense
FAM162BENSG00000183807ENST00000368557p.I89Ic.267C>TSubstitution - coding silent
C9orf84ENSG00000165181ENST00000394779p.L1008Lc.3024T>CSubstitution - coding silent
VPS13AENSG00000197969ENST00000357409p.S2033Lc.6098C>TSubstitution - Missense
SECISBP2ENSG00000187742ENST00000375807p.S531Lc.1592C>TSubstitution - Missense
RAP1GAP2ENSG00000132359ENST00000254695p.H519Yc.1555C>TSubstitution - Missense
AZIN1ENSG00000155096ENST00000337198p.?c.277-1G>AUnknown
ZFHX3ENSG00000140836ENST00000268489p.T1290Tc.3870C>TSubstitution - coding silent
UBE2CENSG00000175063ENST00000356455p.T65Ac.193A>GSubstitution - Missense
NEBENSG00000183091ENST00000427231p.L52Qc.155T>ASubstitution - Missense
NOSTRINENSG00000163072ENST00000444448p.K18Mc.53A>TSubstitution - Missense
CEP89ENSG00000121289ENST00000590597p.?c.625-9C>AUnknown
CACNA1HENSG00000196557ENST00000348261p.S2265Rc.6795C>ASubstitution - Missense
HEATR5AENSG00000129493ENST00000404677p.T350Ic.1049C>TSubstitution - Missense
B3GALT5ENSG00000183778ENST00000380620p.V200Vc.600C>TSubstitution - coding silent
ZNF41ENSG00000147124ENST00000397050p.Q341Hc.1023A>TSubstitution - Missense
NRG3ENSG00000185737ENST00000372142p.S382Lc.1145C>TSubstitution - Missense
ARHGEF11ENSG00000132694ENST00000368194p.E668Ec.2004G>ASubstitution - coding silent
NRG3ENSG00000185737ENST00000372142p.P215Sc.643C>TSubstitution - Missense
LYSTENSG00000143669ENST00000389793p.Q1302Qc.3906G>ASubstitution - coding silent
IFNLR1ENSG00000185436ENST00000327535p.D384Nc.1150G>ASubstitution - Missense
ENST00000432996p.K121Ec.361A>GSubstitution - Missense
NR1I3ENSG00000143257ENST00000367983p.A162Tc.484G>ASubstitution - Missense
HMGB4ENSG00000176256ENST00000519684p.R171Lc.512G>TSubstitution - Missense
SPICENSG00000166211ENST00000551346p.D247Gc.740A>GSubstitution - Missense
ANXA9ENSG00000143412ENST00000368947p.A335Sc.1003G>TSubstitution - Missense
PRPF38BENSG00000134186ENST00000370025p.E84Kc.250G>ASubstitution - Missense
CELSR2ENSG00000143126ENST00000271332p.R45Qc.134G>ASubstitution - Missense
ACSM1ENSG00000166743ENST00000307493p.?c.753-5G>AUnknown
PTPRBENSG00000127329ENST00000261266p.S1658Rc.4974C>ASubstitution - Missense
CNOT2ENSG00000111596ENST00000229195p.?c.171+3A>GUnknown
ASH1LENSG00000116539ENST00000392403p.Q941*c.2821C>TSubstitution - Nonsense
HIF1AENSG00000100644ENST00000337138p.E419Ec.1257A>GSubstitution - coding silent
SPATA20ENSG00000006282ENST00000006658p.E580Kc.1738G>ASubstitution - Missense
C15orf57ENSG00000128891ENST00000358005p.E51Kc.151G>ASubstitution - Missense
CCDC144AENSG00000170160ENST00000360524p.P409Pc.1227A>GSubstitution - coding silent
TRIM47ENSG00000132481ENST00000254816p.S249Sc.747C>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.L10768Fc.32304A>TSubstitution - Missense
CCDC136ENSG00000128596ENST00000297788p.?c.1597-9C>GUnknown
P4HBENSG00000185624ENST00000331483p.D499Dc.1497T>CSubstitution - coding silent
BRWD1ENSG00000185658ENST00000342449p.H199Dc.595C>GSubstitution - Missense
CADM2ENSG00000175161ENST00000383699p.G47Vc.140G>TSubstitution - Missense
SULF1ENSG00000137573ENST00000260128p.?c.413-9C>AUnknown
FGFR1ENSG00000077782ENST00000447712p.R54Cc.160C>TSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.Q2450*c.7348C>TSubstitution - Nonsense
LRCH3ENSG00000186001ENST00000438796p.R413Qc.1238G>ASubstitution - Missense
MAP3K5ENSG00000197442ENST00000359015p.S955Lc.2864C>TSubstitution - Missense
IL37ENSG00000125571ENST00000263326p.E35*c.103G>TSubstitution - Nonsense
SYNE1ENSG00000131018ENST00000423061p.V1097Gc.3290T>GSubstitution - Missense
SLC26A1ENSG00000145217ENST00000361661p.I111Ic.333C>TSubstitution - coding silent
FAM126AENSG00000122591ENST00000432176p.A356Ac.1068G>ASubstitution - coding silent
HSPA4LENSG00000164070ENST00000508776p.S336Nc.1007G>ASubstitution - Missense
ENST00000272666p.L376Lc.1128C>TSubstitution - coding silent
DMDENSG00000198947ENST00000378677p.E1126*c.3376G>TSubstitution - Nonsense
ADGBENSG00000118492ENST00000397944p.S1431Ic.4292G>TSubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.?c.10468-3T>CUnknown
CLDN15ENSG00000106404ENST00000308344p.A120Tc.358G>ASubstitution - Missense
FREM3ENSG00000183090ENST00000329798p.Q677Kc.2029C>ASubstitution - Missense
ACKR2ENSG00000144648ENST00000442925p.L268Vc.802C>GSubstitution - Missense
SPIN4ENSG00000186767ENST00000335144p.V223Vc.669G>TSubstitution - coding silent
ROS1ENSG00000047936ENST00000368507p.Q1604*c.4810C>TSubstitution - Nonsense
PREPLENSG00000138078ENST00000260648p.E493Qc.1477G>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.A3601fs*13c.10800_10801insTInsertion - Frameshift
HEATR6ENSG00000068097ENST00000184956p.L1080Fc.3240G>CSubstitution - Missense
UBTFENSG00000108312ENST00000302904p.?c.59-9C>GUnknown
SLC18B1ENSG00000146409ENST00000275227p.A22Vc.65C>TSubstitution - Missense
PCDHGB2ENSG00000253910ENST00000522605p.Q135Hc.405G>CSubstitution - Missense
PCDHA4ENSG00000204967ENST00000530339p.V745Lc.2233G>TSubstitution - Missense
MAGEA8ENSG00000156009ENST00000535454p.E14fs*32c.39delGDeletion - Frameshift
PLA2R1ENSG00000153246ENST00000283243p.M121Ic.363G>ASubstitution - Missense
SCN2AENSG00000136531ENST00000375427p.R217*c.649C>TSubstitution - Nonsense
UNC5AENSG00000113763ENST00000329542p.V303Mc.907G>ASubstitution - Missense
MAP3K1ENSG00000095015ENST00000399503p.G1356Sc.4066G>ASubstitution - Missense
TCEANC2ENSG00000116205ENST00000371331p.Q46*c.136C>TSubstitution - Nonsense
TTC12ENSG00000149292ENST00000314756p.G456Ec.1367G>ASubstitution - Missense
CTNNA2ENSG00000066032ENST00000361291p.D554Nc.1660G>ASubstitution - Missense
HSPA4LENSG00000164070ENST00000439123p.S367Nc.1100G>ASubstitution - Missense
TRERF1ENSG00000124496ENST00000372917p.S298Lc.893C>TSubstitution - Missense
ENST00000258062_v70p.E777Gc.2330A>GSubstitution - Missense
STXBP5ENSG00000164506ENST00000392291p.T108Tc.324A>GSubstitution - coding silent
UNC5AENSG00000113763ENST00000261961p.E261*c.781G>TSubstitution - Nonsense
DENND2AENSG00000146966ENST00000492720p.A772Tc.2314G>ASubstitution - Missense
PCLOENSG00000186472ENST00000423517p.E1939Gc.5816A>GSubstitution - Missense
KDM4CENSG00000107077ENST00000420847p.V20Ic.58G>ASubstitution - Missense
HIST1H2BGENSG00000187990ENST00000244601p.A98Ac.294C>TSubstitution - coding silent
ITIH5ENSG00000123243ENST00000397145p.R424Qc.1271G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.?c.4861+3C>TUnknown
KMT2DENSG00000167548ENST00000301067p.P2668Lc.8003C>TSubstitution - Missense
ENST00000331572p.S4Rc.12C>ASubstitution - Missense
C1orf101ENSG00000179397ENST00000366533p.E636Kc.1906G>ASubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.P1176Lc.3527C>TSubstitution - Missense
CEP170ENSG00000143702ENST00000366543p.A1126Sc.3376G>TSubstitution - Missense
FGF23ENSG00000118972ENST00000237837p.R245Rc.735C>ASubstitution - coding silent
RPS6KA4ENSG00000162302ENST00000334205p.P206Pc.618C>TSubstitution - coding silent
NR1I3ENSG00000143257ENST00000367981p.A133Tc.397G>ASubstitution - Missense
ACOT2ENSG00000119673ENST00000238651p.E103Ec.309G>ASubstitution - coding silent
ARMC3ENSG00000165309ENST00000298032p.P703Sc.2107C>TSubstitution - Missense
TMPRSS5ENSG00000166682ENST00000299882p.?c.4-6C>TUnknown
NXPE1ENSG00000095110ENST00000424269p.D201Yc.601G>TSubstitution - Missense
PIK3C2BENSG00000133056ENST00000367187p.L1590Lc.4770G>CSubstitution - coding silent
DACT1ENSG00000165617ENST00000335867p.S210Yc.629C>ASubstitution - Missense
MDGA2ENSG00000139915ENST00000357362p.G703Dc.2108G>ASubstitution - Missense
INTS3ENSG00000143624ENST00000318967p.V163Vc.489T>CSubstitution - coding silent
PRR25ENSG00000167945ENST00000301698p.R58Wc.172C>TSubstitution - Missense
SLC9A1ENSG00000090020ENST00000263980p.F463Lc.1389C>ASubstitution - Missense
TNNI3KENSG00000116783ENST00000326637p.G211Ac.632G>CSubstitution - Missense
SNX7ENSG00000162627ENST00000306121p.?c.181-5C>TUnknown
RALGAPA2ENSG00000188559ENST00000202677p.E1751Kc.5251G>ASubstitution - Missense
FAM120AENSG00000048828ENST00000277165p.V891Ac.2672T>CSubstitution - Missense
ZNF257ENSG00000197134ENST00000435820p.N497Yc.1489A>TSubstitution - Missense
PDS5AENSG00000121892ENST00000503396p.V302Vc.906T>CSubstitution - coding silent
C4orf40ENSG00000187533ENST00000344526p.E187Dc.561G>CSubstitution - Missense
FABP4ENSG00000170323ENST00000256104p.R107Ic.320G>TSubstitution - Missense
PARD3BENSG00000116117ENST00000351153p.G308fs*2c.921_922insTInsertion - Frameshift
DNMT3AENSG00000119772ENST00000380746p.F566Sc.1697T>CSubstitution - Missense
ZNF677ENSG00000197928ENST00000333952p.G476Vc.1427G>TSubstitution - Missense
KAT2BENSG00000114166ENST00000263754p.T119Ic.356C>TSubstitution - Missense
SLC38A5ENSG00000017483ENST00000376876p.A122Ac.366G>ASubstitution - coding silent
MGAT1ENSG00000131446ENST00000333055p.V429Ic.1285G>ASubstitution - Missense
CLRN1ENSG00000163646ENST00000327047p.L90Vc.268C>GSubstitution - Missense
SLC4A5ENSG00000188687ENST00000377634p.L1034Vc.3100C>GSubstitution - Missense
FAM161AENSG00000170264ENST00000404929p.P76Pc.228G>TSubstitution - coding silent
DBR1ENSG00000138231ENST00000260803p.E93Kc.277G>ASubstitution - Missense
TOPAZ1ENSG00000173769ENST00000309765p.E189Qc.565G>CSubstitution - Missense
GATAD2AENSG00000167491ENST00000360315p.L5Lc.15G>ASubstitution - coding silent
SH3GL2ENSG00000107295ENST00000380607p.P62Pc.186A>GSubstitution - coding silent
RASGRF2ENSG00000113319ENST00000265080p.V289Ic.865G>ASubstitution - Missense
ZNF462ENSG00000148143ENST00000457913p.?c.7013-1G>AUnknown
SPTLC1ENSG00000090054ENST00000262554p.?c.1137-6C>GUnknown
SECISBP2ENSG00000187742ENST00000375807p.L532Lc.1594C>TSubstitution - coding silent
PHACTR1ENSG00000112137ENST00000379348p.K154Kc.462G>ASubstitution - coding silent
LRP12ENSG00000147650ENST00000276654p.T834Sc.2501C>GSubstitution - Missense
EMC2ENSG00000104412ENST00000220853p.R142Qc.425G>ASubstitution - Missense
ADCY1ENSG00000164742ENST00000297323p.L695Lc.2085G>TSubstitution - coding silent
PCDHA6ENSG00000081842ENST00000529310p.I704Ic.2112C>TSubstitution - coding silent
CYP2A13ENSG00000197838ENST00000330436p.R437Gc.1309C>GSubstitution - Missense
NM_182540.2p.Q340Qc.1020G>ASubstitution - coding silent
HLA-GENSG00000204632ENST00000360323p.?c.620-8C>TUnknown
AGMOENSG00000187546ENST00000342526p.T44Sc.131C>GSubstitution - Missense
TSPAN13ENSG00000106537ENST00000262067p.?c.232-9A>GUnknown
MCF2ENSG00000101977ENST00000370576p.P448Pc.1344A>GSubstitution - coding silent
TCP11ENSG00000124678ENST00000373979p.R139Wc.415C>TSubstitution - Missense
LY75ENSG00000054219ENST00000263636p.?c.467-1G>CUnknown
ASTN2ENSG00000148219ENST00000361209p.L918Lc.2754C>TSubstitution - coding silent
POLHENSG00000170734ENST00000372236p.K589Tc.1766A>CSubstitution - Missense
RHBGENSG00000132677ENST00000537040p.N37Hc.109A>CSubstitution - Missense
CNOT10ENSG00000182973ENST00000454516p.C458Sc.1373G>CSubstitution - Missense
ITGA7ENSG00000135424ENST00000257879p.D968Hc.2902G>CSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.A4216Vc.12647C>TSubstitution - Missense
BPNT1ENSG00000162813ENST00000322067p.S281Fc.842C>TSubstitution - Missense
FAM194BENSG00000165837ENST00000298738p.G10*c.28G>TSubstitution - Nonsense
OR52R1ENSG00000176937ENST00000380382p.N55Nc.165T>CSubstitution - coding silent
LRP4ENSG00000134569ENST00000378623p.P715Pc.2145C>ASubstitution - coding silent
PDE3AENSG00000172572ENST00000359062p.E403Kc.1207G>ASubstitution - Missense
METTL17ENSG00000165792ENST00000382985p.V399Gc.1196T>GSubstitution - Missense
EPB42ENSG00000166947ENST00000300215p.E233Kc.697G>ASubstitution - Missense
OTUD7BENSG00000163113ENST00000369135p.?c.604+6T>CUnknown
ASB13ENSG00000196372ENST00000357700p.V176Vc.528G>ASubstitution - coding silent
NELL1ENSG00000165973ENST00000357134p.P506Sc.1516C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.A233Dc.698C>ASubstitution - Missense
RASAL2ENSG00000075391ENST00000367649p.T85Ic.254C>TSubstitution - Missense
PTPRBENSG00000127329ENST00000261266p.V1837fs*44c.5510delTDeletion - Frameshift
PIK3C2BENSG00000133056ENST00000367187p.L416Lc.1248G>CSubstitution - coding silent
LMBRD2ENSG00000164187ENST00000296603p.K585Kc.1755A>GSubstitution - coding silent
CHD5ENSG00000116254ENST00000262450p.I587Sc.1760T>GSubstitution - Missense
UGT3A2ENSG00000168671ENST00000282507p.L111Lc.333A>GSubstitution - coding silent
NEUROD1ENSG00000162992ENST00000295108p.E258*c.772G>TSubstitution - Nonsense
CHRNEENSG00000108556ENST00000293780p.C458Cc.1374C>TSubstitution - coding silent
DSG4ENSG00000175065ENST00000308128p.G819Gc.2457T>CSubstitution - coding silent
NM_032217.3p.N2021delNc.6062_6064delACADeletion - In frame
PLECENSG00000178209ENST00000345136p.R3220Qc.9659G>ASubstitution - Missense
ENST00000273612p.?c.3944-4C>GUnknown
MIB1ENSG00000101752ENST00000261537p.V261Lc.781G>TSubstitution - Missense
PASKENSG00000115687ENST00000234040p.P684Rc.2051C>GSubstitution - Missense
FNTAENSG00000168522ENST00000302279p.S235Cc.704C>GSubstitution - Missense
FGFR1ENSG00000077782ENST00000447712p.R54Cc.160C>TSubstitution - Missense
SMARCAD1ENSG00000163104ENST00000354268p.L441Fc.1323G>TSubstitution - Missense
SNCAIPENSG00000064692ENST00000503116p.G242Ac.725G>CSubstitution - Missense
SLC16A10ENSG00000112394ENST00000368851p.F367Lc.1101C>ASubstitution - Missense
KIF27ENSG00000165115ENST00000297814p.E1059Qc.3175G>CSubstitution - Missense
KIF18BENSG00000186185ENST00000339151p.P19Hc.56C>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000416767p.A1089Sc.3265G>TSubstitution - Missense
TRIML2ENSG00000179046ENST00000536972p.K3*c.7A>TSubstitution - Nonsense
PCDHB10ENSG00000120324ENST00000239446p.V139Vc.417C>ASubstitution - coding silent
FANCBENSG00000181544ENST00000324138p.S471Lc.1412C>TSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.E87Kc.259G>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.K2625Kc.7875G>ASubstitution - coding silent
ABCB5ENSG00000004846ENST00000404938p.?c.53+6C>TUnknown
AGMOENSG00000187546ENST00000342526p.F47Lc.141C>GSubstitution - Missense
CRIP3ENSG00000146215ENST00000274990p.A45Ac.135A>CSubstitution - coding silent
ODF2ENSG00000136811ENST00000372814p.M230Lc.688A>TSubstitution - Missense
GOLGA2ENSG00000167110ENST00000421699p.L600Lc.1800G>TSubstitution - coding silent
XM_042066p.G1193Sc.3577G>ASubstitution - Missense
DOCK2ENSG00000134516ENST00000256935p.L621Lc.1863G>ASubstitution - coding silent
OR9G1ENSG00000174914ENST00000312153p.D174Ec.522T>GSubstitution - Missense
HKR1ENSG00000181666ENST00000392153p.Q405Qc.1215G>ASubstitution - coding silent
UNC13CENSG00000137766ENST00000545554p.L1643Lc.4929A>GSubstitution - coding silent
MYO9AENSG00000066933ENST00000424560p.R1036Rc.3106A>CSubstitution - coding silent
DRD5ENSG00000169676ENST00000304374p.V94Vc.282C>ASubstitution - coding silent
CBLBENSG00000114423ENST00000394027p.A881Sc.2641G>TSubstitution - Missense
PFDN6ENSG00000204220ENST00000374610p.V56Vc.168C>GSubstitution - coding silent
SYNE1ENSG00000131018ENST00000448038p.E3331Kc.9991G>ASubstitution - Missense
MLKLENSG00000168404ENST00000308807p.L97Lc.291C>GSubstitution - coding silent
LRCH2ENSG00000130224ENST00000317135p.R646Qc.1937G>ASubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.L1588Lc.4762C>TSubstitution - coding silent
ITIH5ENSG00000123243ENST00000256861p.R424Qc.1271G>ASubstitution - Missense
CKAP5ENSG00000175216ENST00000529230p.?c.2434-2A>GUnknown
HMG20AENSG00000140382ENST00000336216p.R162Cc.484C>TSubstitution - Missense
HELBENSG00000127311ENST00000247815p.E164Ec.492A>GSubstitution - coding silent
OR8D4ENSG00000181518ENST00000321355p.S7Sc.21C>ASubstitution - coding silent
EDRF1ENSG00000107938ENST00000356792p.?c.635+8G>TUnknown
RBM34ENSG00000188739ENST00000408888p.D160Nc.478G>ASubstitution - Missense
NR2C1ENSG00000120798ENST00000330677p.S302Rc.906C>ASubstitution - Missense
ERCC5ENSG00000134899ENST00000355739p.T873Tc.2619C>TSubstitution - coding silent
DPP3ENSG00000254986ENST00000360510p.L154Lc.462G>TSubstitution - coding silent
SFR1ENSG00000156384ENST00000336358p.D50Dc.150C>TSubstitution - coding silent
NM_006561.2p.T173Sc.517A>TSubstitution - Missense
ENST00000369342p.?c.634+6G>TUnknown
DNAJC9ENSG00000213551ENST00000372950p.P157Hc.470C>ASubstitution - Missense
HSD3B1ENSG00000203857ENST00000369413p.E46Kc.136G>ASubstitution - Missense
CBLENSG00000110395ENST00000264033p.R68Wc.202C>TSubstitution - Missense
NM_002837.2p.P668Pc.2004C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369348p.A304Dc.911C>ASubstitution - Missense
EPS15ENSG00000085832ENST00000371733p.F647Fc.1941C>TSubstitution - coding silent
OSMRENSG00000145623ENST00000274276p.M756Ic.2268G>CSubstitution - Missense
INO80ENSG00000128908ENST00000361937p.S1351Pc.4051T>CSubstitution - Missense
OR2T33ENSG00000177212ENST00000318021p.L30Lc.90G>CSubstitution - coding silent
SACSENSG00000151835ENST00000382298p.P3095Ac.9283C>GSubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.E3655Kc.10963G>ASubstitution - Missense
KIAA1210ENSG00000250423ENST00000402510p.F708Fc.2124C>TSubstitution - coding silent
GPC3ENSG00000147257ENST00000370818p.S60Lc.179C>TSubstitution - Missense
AIFM1ENSG00000156709ENST00000319908p.Y64Yc.192C>TSubstitution - coding silent
MYH7BENSG00000078814ENST00000262873p.R1431Sc.4293G>CSubstitution - Missense
ALDH16A1ENSG00000161618ENST00000293350p.?c.913-2A>TUnknown
ENST00000397697p.?c.1249-9C>GUnknown
NM_012417.2p.K292Rc.875A>GSubstitution - Missense
ROBO2ENSG00000185008ENST00000461745p.L90*c.269T>ASubstitution - Nonsense
ENAMENSG00000132464ENST00000396073p.Y638Yc.1914C>TSubstitution - coding silent
NM_014916p.V165Vc.495C>GSubstitution - coding silent
LAMB2ENSG00000172037ENST00000305544p.D223Yc.667G>TSubstitution - Missense
SPDYE4ENSG00000183318ENST00000328794p.S150Lc.449C>TSubstitution - Missense
GRM3ENSG00000198822ENST00000394720p.L361Fc.1081C>TSubstitution - Missense
COBLENSG00000106078ENST00000395542p.V822Vc.2466G>ASubstitution - coding silent
IGFBP3ENSG00000146674ENST00000275521p.H179Nc.535C>ASubstitution - Missense
PLECENSG00000178209ENST00000354589p.R3220Qc.9659G>ASubstitution - Missense
EEF1DENSG00000104529ENST00000423316p.D61Nc.181G>ASubstitution - Missense
ASB4ENSG00000005981ENST00000428113p.S254Yc.761C>ASubstitution - Missense
TRPA1ENSG00000104321ENST00000262209p.H321Rc.962A>GSubstitution - Missense
SVEP1ENSG00000165124ENST00000302728p.F803Lc.2409C>GSubstitution - Missense
SMC2ENSG00000136824ENST00000303219p.?c.637-7C>GUnknown
TEX10ENSG00000136891ENST00000535814p.L170Lc.508C>TSubstitution - coding silent
ENST00000375206p.H98Rc.293A>GSubstitution - Missense
CCDC180ENSG00000197816ENST00000375205p.H138Rc.413A>GSubstitution - Missense
BNC2ENSG00000173068ENST00000380666p.G252Vc.755G>TSubstitution - Missense
FAM120AENSG00000048828ENST00000333936p.V919Ac.2756T>CSubstitution - Missense
CNKSR2ENSG00000149970ENST00000279451p.L99Lc.295C>TSubstitution - coding silent
ATP11CENSG00000101974ENST00000370543p.L921Lc.2761T>CSubstitution - coding silent
LHX9ENSG00000143355ENST00000367387p.?c.378-8C>TUnknown
SIGLEC12ENSG00000254521ENST00000291707p.S362Fc.1085C>TSubstitution - Missense
BNIPLENSG00000163141ENST00000368931p.R309Qc.926G>ASubstitution - Missense
SLITRK1ENSG00000178235ENST00000377084p.I642Mc.1926C>GSubstitution - Missense
EIF2DENSG00000143486ENST00000271764p.?c.1685-8G>AUnknown
UBTD1ENSG00000165886ENST00000370664p.T131Mc.392C>TSubstitution - Missense
C11orf94ENSG00000234776ENST00000449465p.R70*c.208C>TSubstitution - Nonsense
ITIH5ENSG00000123243ENST00000256861p.L580Lc.1740C>GSubstitution - coding silent
MON2ENSG00000061987ENST00000393632p.S523Lc.1568C>TSubstitution - Missense
TNFAIP2ENSG00000185215ENST00000333007p.I426Mc.1278C>GSubstitution - Missense
TICRRENSG00000140534ENST00000268138p.E539Ec.1617G>ASubstitution - coding silent
FMN2ENSG00000155816ENST00000319653p.A1639Sc.4915G>TSubstitution - Missense
PLA2G4EENSG00000188089ENST00000413860p.V603Mc.1807G>ASubstitution - Missense
ECM1ENSG00000143369ENST00000369047p.?c.1393-1G>AUnknown
ZMYM6ENSG00000163867ENST00000357182p.R155Lc.464G>TSubstitution - Missense
ENST00000409706p.?c.298-1G>AUnknown
SIKE1ENSG00000052723ENST00000060969p.K119Ec.355A>GSubstitution - Missense
QSER1ENSG00000060749ENST00000399302p.P1461Qc.4382C>ASubstitution - Missense
AKR7A2ENSG00000053371ENST00000235835p.F138Fc.414C>TSubstitution - coding silent
NEDD4ENSG00000069869ENST00000435532p.F635Fc.1905C>TSubstitution - coding silent
MAPK6ENSG00000069956ENST00000261845p.R460Kc.1379G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.Q1968*c.5902C>TSubstitution - Nonsense
MDGA2ENSG00000139915ENST00000426342p.G703Dc.2108G>ASubstitution - Missense
FKBP4ENSG00000004478ENST00000001008p.G148Dc.443G>ASubstitution - Missense
ASH1LENSG00000116539ENST00000392403p.S932fs*17c.2796delCDeletion - Frameshift
C15orf57ENSG00000128891ENST00000558750p.E60Kc.178G>ASubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.L1562Lc.4686G>TSubstitution - coding silent
HEATR5AENSG00000129493ENST00000389961p.T344Ic.1031C>TSubstitution - Missense
TRIM63ENSG00000158022ENST00000374272p.E222Dc.666G>CSubstitution - Missense
COL3A1ENSG00000168542ENST00000304636p.P385Sc.1153C>TSubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.E1751Kc.5251G>ASubstitution - Missense
TEKENSG00000120156ENST00000380036p.?c.3104-7C>GUnknown
SETBP1ENSG00000152217ENST00000282030p.D84Dc.252T>CSubstitution - coding silent
ADCK5ENSG00000173137ENST00000308860p.?c.1015-8C>TUnknown
TTNENSG00000155657ENST00000342175p.I14446Mc.43338C>GSubstitution - Missense
NLRP7ENSG00000167634ENST00000328092p.T203Mc.608C>TSubstitution - Missense
PASKENSG00000115687ENST00000234040p.P684Rc.2051C>GSubstitution - Missense
AFF1ENSG00000172493ENST00000395146p.D916Dc.2748C>TSubstitution - coding silent
ANK1ENSG00000029534ENST00000265709p.V582Lc.1744G>CSubstitution - Missense
DUS3LENSG00000141994ENST00000309061p.G80*c.238G>TSubstitution - Nonsense
SCAF8ENSG00000213079ENST00000367178p.?c.322-4C>GUnknown
CNKSR2ENSG00000149970ENST00000379510p.?c.2045-1G>CUnknown
WNT7AENSG00000154764ENST00000285018p.L252Lc.756G>CSubstitution - coding silent
HIF3AENSG00000124440ENST00000377670p.F409Fc.1227C>TSubstitution - coding silent
MUC17ENSG00000169876ENST00000306151p.E901Kc.2701G>ASubstitution - Missense
SLC15A2ENSG00000163406ENST00000489711p.G158Ac.473G>CSubstitution - Missense
PHLDB2ENSG00000144824ENST00000431670p.Y59Cc.176A>GSubstitution - Missense
ZNF236ENSG00000130856ENST00000253159p.S1442Sc.4326C>TSubstitution - coding silent
PTCHD2ENSG00000204624ENST00000389575p.K1320Nc.3960G>CSubstitution - Missense
SEMA6CENSG00000143434ENST00000368913p.S213Sc.639C>TSubstitution - coding silent
MEX3AENSG00000254726ENST00000532414p.D112Nc.334G>ASubstitution - Missense
SELLENSG00000188404ENST00000236147p.S96Cc.286A>TSubstitution - Missense
DCAF6ENSG00000143164ENST00000367840p.?c.439-6C>TUnknown
CRB1ENSG00000134376ENST00000535699p.N1120Dc.3358A>GSubstitution - Missense
GLRX2ENSG00000023572ENST00000367439p.E162*c.484G>TSubstitution - Nonsense
USH2AENSG00000042781ENST00000366943p.P4734Pc.14202A>GSubstitution - coding silent
CDC42BPAENSG00000143776ENST00000441725p.?c.1126+5G>TUnknown
SLC9A1ENSG00000090020ENST00000374086p.F463Lc.1389C>ASubstitution - Missense
RHCEENSG00000188672ENST00000374352p.G239Rc.715G>CSubstitution - Missense
RHCEENSG00000188672ENST00000413854p.G255Rc.763G>CSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.E4956Ac.14867A>CSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.V2460Vc.7380A>GSubstitution - coding silent
LEPRENSG00000116678ENST00000371059p.?c.703+3A>TUnknown
EPS15ENSG00000085832ENST00000396122p.F324Fc.972C>TSubstitution - coding silent
MCOLN2ENSG00000153898ENST00000370608p.F433Lc.1299C>ASubstitution - Missense
C14orf164ENSG00000215277ENST00000430154p.W78Cc.234G>CSubstitution - Missense
CHRNA7ENSG00000175344ENST00000454250p.L142Vc.424C>GSubstitution - Missense
EML5ENSG00000165521ENST00000352093p.A554Ac.1662C>TSubstitution - coding silent
FAM219BENSG00000178761ENST00000457294p.S102Sc.306A>GSubstitution - coding silent
IGFALSENSG00000099769ENST00000415638p.A393Ac.1179G>ASubstitution - coding silent
KAT8ENSG00000103510ENST00000448516p.R362Cc.1084C>TSubstitution - Missense
APOBRENSG00000184730ENST00000564831p.E438Kc.1312G>ASubstitution - Missense
C17orf66ENSG00000172653ENST00000589015p.A167Ac.501C>ASubstitution - coding silent
TNK1ENSG00000174292ENST00000570896p.T509Kc.1526C>ASubstitution - Missense
RECQL5ENSG00000108469ENST00000317905p.Q900Ec.2698C>GSubstitution - Missense
PITPNC1ENSG00000154217ENST00000335257p.K292Rc.875A>GSubstitution - Missense
ZNF407ENSG00000215421ENST00000577538p.C1539Cc.4617C>TSubstitution - coding silent
SUGP2ENSG00000064607ENST00000452918p.C737Fc.2210G>TSubstitution - Missense
SUGP2ENSG00000064607ENST00000456085p.C506Fc.1517G>TSubstitution - Missense
SUGP2ENSG00000064607ENST00000452918p.G707Dc.2120G>ASubstitution - Missense
SUGP2ENSG00000064607ENST00000456085p.G476Dc.1427G>ASubstitution - Missense
ETV2ENSG00000105672ENST00000402764p.S106Lc.317C>TSubstitution - Missense
LILRA5ENSG00000187116ENST00000432233p.L26Lc.76C>TSubstitution - coding silent
PSG9ENSG00000183668ENST00000270077p.R313Rc.937C>ASubstitution - coding silent
PLTPENSG00000100979ENST00000542937p.D186Nc.556G>ASubstitution - Missense
EIF6ENSG00000242372ENST00000374443p.T194Tc.582A>GSubstitution - coding silent
TOM1ENSG00000100284ENST00000436462p.T222Tc.666G>ASubstitution - coding silent
OSBP2ENSG00000184792ENST00000382310p.S212Cc.635C>GSubstitution - Missense
ABCA12ENSG00000144452ENST00000389661p.G1325Sc.3973G>ASubstitution - Missense
ADAM23ENSG00000114948ENST00000374415p.R446Kc.1337G>ASubstitution - Missense
COL6A5ENSG00000172752ENST00000373157p.L5Lc.15A>GSubstitution - coding silent
FLNBENSG00000136068ENST00000357272p.?c.3127-7C>GUnknown
OVCH2ENSG00000183378ENST00000454689p.R308Tc.923G>CSubstitution - Missense
OVCH2ENSG00000183378ENST00000454689p.S4Rc.12C>ASubstitution - Missense
DMXL1ENSG00000172869ENST00000539542p.E2558Gc.7673A>GSubstitution - Missense
RUFY3ENSG00000018189ENST00000536664p.A438Ec.1313C>ASubstitution - Missense
UNC5AENSG00000113763ENST00000261961p.V263Mc.787G>ASubstitution - Missense
ERBB2IPENSG00000112851ENST00000380943p.L518Mc.1552T>ASubstitution - Missense
ERBB2IPENSG00000112851ENST00000284037p.L518Mc.1552T>ASubstitution - Missense
ADAMTS6ENSG00000049192ENST00000536360p.?c.1224-9T>CUnknown
SYNE1ENSG00000131018ENST00000341594p.E3363Kc.10087G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.V1156Gc.3467T>GSubstitution - Missense
TRIM40ENSG00000204614ENST00000396581p.P175Sc.523C>TSubstitution - Missense
BEND6ENSG00000151917ENST00000370750p.?c.121-9C>GUnknown
ABCC10ENSG00000124574ENST00000372530p.A1410Ac.4230A>GSubstitution - coding silent
TRERF1ENSG00000124496ENST00000541110p.S298Lc.893C>TSubstitution - Missense
USP49ENSG00000164663ENST00000394253p.A228Tc.682G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.?c.11119-3T>CUnknown
MUC17ENSG00000169876ENST00000306151p.S2949Lc.8846C>TSubstitution - Missense
PPP1R3AENSG00000154415ENST00000284601p.L356Fc.1068A>TSubstitution - Missense
AMPHENSG00000078053ENST00000428293p.P269Hc.806C>ASubstitution - Missense
ENST00000328843_v70p.I3220Mc.9660C>GSubstitution - Missense
ENSG00000176349ENST00000318959p.L113Vc.337C>GSubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
PXDNENSG00000130508ENST00000252804p.T807Sc.2420C>GSubstitution - Missense
STK39ENSG00000198648ENST00000355999p.G436Sc.1306G>ASubstitution - Missense
STK39ENSG00000198648ENST00000355999p.G436Sc.1306G>ASubstitution - Missense
NOSTRINENSG00000163072ENST00000317647p.K18Mc.53A>TSubstitution - Missense
NM_138995p.?c.972-4C>AUnknown
LRRC6ENSG00000129295ENST00000250173p.N61Sc.182A>GSubstitution - Missense
AGO2ENSG00000123908ENST00000220592p.A603Ac.1809C>TSubstitution - coding silent
COL22A1ENSG00000169436ENST00000303045p.?c.4366-5C>GUnknown
OR1L3ENSG00000171481ENST00000304820p.L187Lc.561G>TSubstitution - coding silent
DAB2IPENSG00000136848ENST00000259371p.H997fs*4c.2989_2990insCInsertion - Frameshift
ASTN2ENSG00000148219ENST00000288520p.L70Lc.210C>TSubstitution - coding silent
ASTN2ENSG00000148219ENST00000361477p.L21Lc.63C>TSubstitution - coding silent
GOLGA1ENSG00000136935ENST00000373555p.E267Dc.801G>TSubstitution - Missense
ENST00000372796p.M186Lc.556A>TSubstitution - Missense
ENST00000303890p.M162Lc.484A>TSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.?c.1912-10C>TUnknown
ABCF3ENSG00000161204ENST00000429586p.?c.1751-5T>AUnknown
EIF4A2ENSG00000156976ENST00000323963p.D37Nc.109G>ASubstitution - Missense
EIF4A2ENSG00000156976ENST00000323963p.Q61Qc.183G>ASubstitution - coding silent
EIF4A2ENSG00000156976ENST00000323963p.E98Kc.292G>ASubstitution - Missense
FSTL5ENSG00000168843ENST00000306100p.G210Gc.630C>ASubstitution - coding silent
MFAP3LENSG00000198948ENST00000361618p.E344Qc.1030G>CSubstitution - Missense
WWC2ENSG00000151718ENST00000378925p.?c.2062-8C>TUnknown
WDR17ENSG00000150627ENST00000280190p.C177Yc.530G>ASubstitution - Missense
SLIT3ENSG00000184347ENST00000519560p.?c.1296-7C>TUnknown
DOCK2ENSG00000134516ENST00000256935p.A88Ac.264A>GSubstitution - coding silent
GRK6ENSG00000198055ENST00000355472p.E444Ec.1332G>ASubstitution - coding silent
CDHR2ENSG00000074276ENST00000261944p.D972Hc.2914G>CSubstitution - Missense
FAM153BENSG00000182230ENST00000253490p.H179Qc.537T>ASubstitution - Missense
NM_002203.2p.T337Tc.1011A>GSubstitution - coding silent
MAP3K1ENSG00000095015ENST00000399503p.T942fs*62c.2821_2822insCInsertion - Frameshift
PPWD1ENSG00000113593ENST00000261308p.I119fs*6c.355_356insAInsertion - Frameshift
ITPR3ENSG00000096433ENST00000374316p.T1907Tc.5721G>ASubstitution - coding silent
CUTAENSG00000112514ENST00000440279p.S9Ac.25T>GSubstitution - Missense
TAPBPENSG00000231925ENST00000426633p.L133Lc.399C>GSubstitution - coding silent
COL11A2ENSG00000204248ENST00000341947p.S686*c.2057C>GSubstitution - Nonsense
ABCC10ENSG00000124574ENST00000244533p.A1382Ac.4146A>GSubstitution - coding silent
CUL9ENSG00000112659ENST00000252050p.R1345Rc.4035G>ASubstitution - coding silent
CUL9ENSG00000112659ENST00000252050p.L1848Lc.5544G>TSubstitution - coding silent
DUSP22ENSG00000112679ENST00000344450p.L181Lc.543C>GSubstitution - coding silent
TCP11ENSG00000124678ENST00000311875p.R214Wc.640C>TSubstitution - Missense
ENST00000371200p.E170*c.508G>TSubstitution - Nonsense
KLHL31ENSG00000124743ENST00000370905p.E17*c.49G>TSubstitution - Nonsense
EXOC6ENSG00000138190ENST00000260762p.R508Wc.1522C>TSubstitution - Missense
EXOC6ENSG00000138190ENST00000371552p.R503Wc.1507C>TSubstitution - Missense
EXOC6ENSG00000138190ENST00000371547p.R524Wc.1570C>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000400164p.N1539Nc.4617T>CSubstitution - coding silent
ARHGAP21ENSG00000107863ENST00000376410p.E290Vc.869A>TSubstitution - Missense
KCNMA1ENSG00000156113ENST00000354353p.A92Pc.274G>CSubstitution - Missense
KCNMA1ENSG00000156113ENST00000372443p.A92Pc.274G>CSubstitution - Missense
TMPRSS13ENSG00000137747ENST00000526090p.D212Dc.636C>TSubstitution - coding silent
OR52J3ENSG00000205495ENST00000380370p.L239Lc.717A>GSubstitution - coding silent
OR8H1ENSG00000181693ENST00000313022p.F28Fc.84T>CSubstitution - coding silent
TRIM22ENSG00000132274ENST00000379965p.F131Fc.393C>TSubstitution - coding silent
ITGA7ENSG00000135424ENST00000452168p.D875Hc.2623G>CSubstitution - Missense
ITGA7ENSG00000135424ENST00000257880p.D1012Hc.3034G>CSubstitution - Missense
PCDH9ENSG00000184226ENST00000377861p.I830Ic.2490C>ASubstitution - coding silent
NAA16ENSG00000172766ENST00000403412p.Q142*c.424C>TSubstitution - Nonsense
MRPS31ENSG00000102738ENST00000323563p.P153Sc.457C>TSubstitution - Missense
ATP12AENSG00000075673ENST00000218548p.V620Vc.1860G>TSubstitution - coding silent
SACSENSG00000151835ENST00000382298p.H2882Yc.8644C>TSubstitution - Missense
MYO16ENSG00000041515ENST00000457511p.Y590*c.1770C>GSubstitution - Nonsense
URGCPENSG00000106608ENST00000223341p.E764Gc.2291A>GSubstitution - Missense
AMPHENSG00000078053ENST00000356264p.P269Hc.806C>ASubstitution - Missense
VGLL1ENSG00000102243ENST00000370634p.R47Kc.140G>ASubstitution - Missense
MCF2ENSG00000101977ENST00000519895p.P508Pc.1524A>GSubstitution - coding silent
GLRA2ENSG00000101958ENST00000355020p.R354Tc.1061G>CSubstitution - Missense
GLRA2ENSG00000101958ENST00000218075p.R354Tc.1061G>CSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.D239Vc.716A>TSubstitution - Missense
CTNNA1ENSG00000044115ENST00000302763p.S264Lc.791C>TSubstitution - Missense
PCDHA1ENSG00000204970ENST00000504120p.P143Lc.428C>TSubstitution - Missense
SLC35A4ENSG00000176087ENST00000323146p.A90Ac.270A>GSubstitution - coding silent
PCDHAC2ENSG00000243232ENST00000289269p.C117Cc.351C>TSubstitution - coding silent
ENST00000289630p.I704Ic.2112C>TSubstitution - coding silent
PCDHB16ENSG00000196963ENST00000361016p.P252Tc.754C>ASubstitution - Missense
PCDHB6ENSG00000113211ENST00000231136p.S478*c.1433C>GSubstitution - Nonsense
PCDHB3ENSG00000113205ENST00000231130p.S518*c.1553C>ASubstitution - Nonsense
PCDHB2ENSG00000112852ENST00000194155p.T459Tc.1377C>TSubstitution - coding silent
GABRA6ENSG00000145863ENST00000274545p.N162Sc.485A>GSubstitution - Missense
C5orf54ENSG00000221886ENST00000408953p.V116Vc.348G>ASubstitution - coding silent
TRIM40ENSG00000204614ENST00000307859p.?c.442-6C>TUnknown
OR2J3ENSG00000204701ENST00000377169p.R142Cc.424C>TSubstitution - Missense
PSORS1C2ENSG00000204538ENST00000259845p.E24Kc.70G>ASubstitution - Missense
FLOT1ENSG00000137312ENST00000376389p.A391Sc.1171G>TSubstitution - Missense
LTAENSG00000226979ENST00000454783p.S93Fc.278C>TSubstitution - Missense
ENST00000539307p.E124Dc.372G>CSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.E87Dc.261G>CSubstitution - Missense
ENST00000539307p.E124Kc.370G>ASubstitution - Missense
ENST00000539307p.R52Lc.155G>TSubstitution - Missense
OR2A5ENSG00000221836ENST00000408906p.F178Lc.534C>ASubstitution - Missense
CUL1ENSG00000055130ENST00000409469p.L442Lc.1326A>CSubstitution - coding silent
CHPF2ENSG00000033100ENST00000035307p.V704Vc.2112G>CSubstitution - coding silent
FASTKENSG00000164896ENST00000297532p.C299Sc.895T>ASubstitution - Missense
NOS3ENSG00000164867ENST00000297494p.E1060Dc.3180G>CSubstitution - Missense
C7orf57ENSG00000164746ENST00000348904p.?c.242-1G>TUnknown
COBLENSG00000106078ENST00000265136p.V740Vc.2220G>ASubstitution - coding silent
ZCWPW1ENSG00000078487ENST00000398027p.?c.1624+3A>CUnknown
GPC2ENSG00000213420ENST00000292377p.L203Lc.609G>TSubstitution - coding silent
SUMF2ENSG00000129103ENST00000342190p.L30Vc.88C>GSubstitution - Missense
AZIN1ENSG00000155096ENST00000337198p.M313Lc.937A>TSubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.S2942Sc.8826G>ASubstitution - coding silent
ENST00000316490_v65p.E1758Kc.5272G>ASubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.I2963Ic.8889C>TSubstitution - coding silent
DHODHENSG00000102967ENST00000219240p.K109Kc.327G>ASubstitution - coding silent
NPIPB5ENSG00000243716ENST00000424340p.H620fs*4c.1857delCDeletion - Frameshift
NPIPB5ENSG00000243716ENST00000424340p.H620fs*4c.1857delCDeletion - Frameshift
NM_014353.3p.?c.471-4G>TUnknown
ERN2ENSG00000134398ENST00000256797p.T282Ac.844A>GSubstitution - Missense
PKN1ENSG00000123143ENST00000242783p.?c.2216+9G>CUnknown
NXNL1ENSG00000171773ENST00000301944p.A122Vc.365C>TSubstitution - Missense
XRCC1ENSG00000073050ENST00000262887p.N183Sc.548A>GSubstitution - Missense
PSG6ENSG00000170848ENST00000292125p.P173Lc.518C>TSubstitution - Missense
ZNF223ENSG00000178386ENST00000434772p.N261Ic.782A>TSubstitution - Missense
SMOXENSG00000088826ENST00000379460p.L397Lc.1191C>TSubstitution - coding silent
UBE2CENSG00000175063ENST00000335046p.T65Ac.193A>GSubstitution - Missense
PREX1ENSG00000124126ENST00000396220p.S1029Cc.3086C>GSubstitution - Missense
SLC35C2ENSG00000080189ENST00000372229p.?c.9+3G>CUnknown
PLTPENSG00000100979ENST00000372431p.D166Nc.496G>ASubstitution - Missense
ARHGAP15ENSG00000075884ENST00000295095p.G435Gc.1305A>GSubstitution - coding silent
NEBENSG00000183091ENST00000409198p.L52Qc.155T>ASubstitution - Missense
NEBENSG00000183091ENST00000427231p.K2625Kc.7875G>ASubstitution - coding silent
NEBENSG00000183091ENST00000427231p.V6019Vc.18057C>TSubstitution - coding silent
NEBENSG00000183091ENST00000397345p.V6019Vc.18057C>TSubstitution - coding silent
CWH43ENSG00000109182ENST00000226432p.S103Sc.309A>TSubstitution - coding silent
PLA2R1ENSG00000153246ENST00000283243p.S1110Cc.3329C>GSubstitution - Missense
LY75ENSG00000054219ENST00000263636p.?c.4550-5T>CUnknown
RSPH4AENSG00000111834ENST00000229554p.?c.687-5G>AUnknown
EXOC2ENSG00000112685ENST00000230449p.S86Lc.257C>TSubstitution - Missense
EXOC2ENSG00000112685ENST00000230449p.Y204Cc.611A>GSubstitution - Missense
DSTENSG00000151914ENST00000244364p.L263Vc.787C>GSubstitution - Missense
DSTENSG00000151914ENST00000370765p.L263Vc.787C>GSubstitution - Missense
DSTENSG00000151914ENST00000370765p.L263Vc.787C>GSubstitution - Missense
FAM135AENSG00000082269ENST00000370479p.G688Gc.2064G>ASubstitution - coding silent
COL9A1ENSG00000112280ENST00000357250p.S635Fc.1904C>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.A3641fs*13c.10920_10921insTInsertion - Frameshift
SYBUENSG00000147642ENST00000399066p.T114Tc.342G>ASubstitution - coding silent
TEX10ENSG00000136891ENST00000374902p.L167Lc.499C>TSubstitution - coding silent
SMC2ENSG00000136824ENST00000286398p.?c.637-7C>GUnknown
SMC2ENSG00000136824ENST00000286398p.?c.637-7C>GUnknown
ZNF462ENSG00000148143ENST00000277225p.?c.6833-1G>AUnknown
RNF183ENSG00000165188ENST00000297894p.L58Lc.174C>TSubstitution - coding silent
C9orf84ENSG00000165181ENST00000374287p.L1047Lc.3141T>CSubstitution - coding silent
KIAA0408ENSG00000189367ENST00000483725p.?c.1912-4C>TUnknown
HIVEP1ENSG00000095951ENST00000379388p.*2719*c.8156G>ASubstitution - coding silent
HSF2ENSG00000025156ENST00000368455p.L348Lc.1044G>ASubstitution - coding silent
L3MBTL3ENSG00000198945ENST00000368136p.C304Fc.911G>TSubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.Q1421Ec.4261C>GSubstitution - Missense
TCF21ENSG00000118526ENST00000237316p.N82Hc.244A>CSubstitution - Missense
TCF21ENSG00000118526ENST00000237316p.R89Qc.266G>ASubstitution - Missense
RAP1GAP2ENSG00000132359ENST00000254695p.H519Yc.1555C>TSubstitution - Missense
ZFP36L2ENSG00000152518ENST00000282388p.D219Ec.657C>GSubstitution - Missense
STAT5BENSG00000173757ENST00000293328p.Q8Rc.23A>GSubstitution - Missense
AOC3ENSG00000131471ENST00000308423p.T583Tc.1749C>TSubstitution - coding silent
PTGES3L-AARSD1ENSG00000108825ENST00000421990p.E506Qc.1516G>CSubstitution - Missense
PTGES3L-AARSD1ENSG00000108825ENST00000360221p.E445Qc.1333G>CSubstitution - Missense
CAMTA2ENSG00000108509ENST00000348066p.A867fs*7c.2589_2590insCInsertion - Frameshift
RPAINENSG00000129197ENST00000381209p.R173Hc.518G>ASubstitution - Missense
RABEP1ENSG00000029725ENST00000262477p.M191Vc.571A>GSubstitution - Missense
SPAG9ENSG00000008294ENST00000262013p.V1055Vc.3165G>TSubstitution - coding silent
SPAG9ENSG00000008294ENST00000357122p.V1041Vc.3123G>TSubstitution - coding silent
SUPT4H1ENSG00000213246ENST00000225504p.?c.287-7G>AUnknown
NM_014209.1p.S134Lc.401C>TSubstitution - Missense
ZNF792ENSG00000180884ENST00000404801p.T81Pc.241A>CSubstitution - Missense
ZNF211ENSG00000121417ENST00000407202p.T2Pc.4A>CSubstitution - Missense
GOLIM4ENSG00000173905ENST00000470487p.?c.685-6A>GUnknown
MECOMENSG00000085276ENST00000392736p.D895Nc.2683G>ASubstitution - Missense
SIENSG00000090402ENST00000264382p.?c.4692+3A>TUnknown
TNIKENSG00000154310ENST00000436636p.G966Ec.2897G>ASubstitution - Missense
PLCL2ENSG00000154822ENST00000396755p.L393Lc.1179A>GSubstitution - coding silent
SLC2A2ENSG00000163581ENST00000314251p.?c.1171-1G>TUnknown
USP13ENSG00000058056ENST00000263966p.T181Tc.543G>ASubstitution - coding silent
ENST00000573521_v68p.V422Vc.1266G>ASubstitution - coding silent
PCDHGA9ENSG00000261934ENST00000573521p.V422Vc.1266G>ASubstitution - coding silent
PCDHGB3ENSG00000262209ENST00000576222p.C755Yc.2264G>ASubstitution - Missense
PCDHGA5ENSG00000253485ENST00000518069p.V121Gc.362T>GSubstitution - Missense
PCDHGA5ENSG00000253485ENST00000518069p.V121Gc.362T>GSubstitution - Missense
GRXCR2ENSG00000204928ENST00000377976p.?c.565-769_587del792Unknown
SH3RF2ENSG00000156463ENST00000359120p.P64Qc.191C>ASubstitution - Missense
SH3RF2ENSG00000156463ENST00000359120p.L69Lc.207C>TSubstitution - coding silent
BARHL1ENSG00000125492ENST00000263610p.E135fs*16c.402_412>TTGComplex - frameshift
VPS13AENSG00000197969ENST00000360280p.L678Lc.2032C>TSubstitution - coding silent
PCSK5ENSG00000099139ENST00000376752p.V900Ac.2699T>CSubstitution - Missense
VPS13AENSG00000197969ENST00000360280p.S2033Lc.6098C>TSubstitution - Missense
IARSENSG00000196305ENST00000375643p.?c.3554-1G>CUnknown
SEMA4DENSG00000187764ENST00000450295p.?c.1330+10G>AUnknown
SPATA31E1ENSG00000177992ENST00000325643p.S468Cc.1403C>GSubstitution - Missense
ZNF780BENSG00000128000ENST00000434248p.R602*c.1804C>TSubstitution - Nonsense
CCDC97ENSG00000142039ENST00000269967p.Q234Qc.702G>ASubstitution - coding silent
NME8ENSG00000086288ENST00000199447p.D139Vc.416A>TSubstitution - Missense
DPY19L1ENSG00000173852ENST00000310974p.G239Ec.716G>ASubstitution - Missense
UNC13AENSG00000130477ENST00000519716p.L1034Vc.3100C>GSubstitution - Missense
VCX3BENSG00000205642ENST00000444481p.E201Vc.602A>TSubstitution - Missense
SUGP2ENSG00000064607ENST00000337018p.C737Fc.2210G>TSubstitution - Missense
ZNF93ENSG00000184635ENST00000343769p.V125Mc.373G>ASubstitution - Missense
GATAD2AENSG00000167491ENST00000360315p.L148Lc.444G>ASubstitution - coding silent
STRN4ENSG00000090372ENST00000391910p.?c.1154-8C>TUnknown
HIF3AENSG00000124440ENST00000300862p.F407Fc.1221C>TSubstitution - coding silent
HIF3AENSG00000124440ENST00000420102p.F358Fc.1074C>TSubstitution - coding silent
TICAM1ENSG00000127666ENST00000248244p.Q588Pc.1763A>CSubstitution - Missense
DHX34ENSG00000134815ENST00000328771p.I546Ic.1638C>TSubstitution - coding silent
RASIP1ENSG00000105538ENST00000222145p.E694Ec.2082G>ASubstitution - coding silent
TUFMENSG00000178952ENST00000313511p.R428*c.1282C>TSubstitution - Nonsense
FBXL19ENSG00000099364ENST00000380310p.F62Fc.186C>TSubstitution - coding silent
MAP3K19ENSG00000176601ENST00000375845p.S852Lc.2555C>TSubstitution - Missense
AK131216.1p.S204Lc.611C>TSubstitution - Missense
PHLDB2ENSG00000144824ENST00000393923p.Y86Cc.257A>GSubstitution - Missense
SPOPLENSG00000144228ENST00000280098p.L88Vc.262T>GSubstitution - Missense
ARGFXENSG00000186103ENST00000334384p.Q147Hc.441G>TSubstitution - Missense
NM_006596.3p.L2131Rc.6392T>GSubstitution - Missense
NM_006596.3p.L2131Lc.6391C>TSubstitution - coding silent
GSK3BENSG00000082701ENST00000316626p.S21Lc.62C>TSubstitution - Missense
GPR156ENSG00000175697ENST00000315843p.E457Qc.1369G>CSubstitution - Missense
EAF2ENSG00000145088ENST00000273668p.S207Fc.620C>TSubstitution - Missense
SLC15A2ENSG00000163406ENST00000489711p.?c.1554-3C>TUnknown
NUP210ENSG00000132182ENST00000254508p.E73Kc.217G>ASubstitution - Missense
WNT7AENSG00000154764ENST00000285018p.R102Gc.304C>GSubstitution - Missense
HHIPENSG00000164161ENST00000296575p.C657Yc.1970G>ASubstitution - Missense
FHDC1ENSG00000137460ENST00000260008p.P652Pc.1956G>ASubstitution - coding silent
DCLK2ENSG00000170390ENST00000302176p.?c.859+10T>AUnknown
DCLK2ENSG00000170390ENST00000296550p.?c.859+10T>AUnknown
IRF2ENSG00000168310ENST00000393593p.R325Qc.974G>ASubstitution - Missense
TLR2ENSG00000137462ENST00000260010p.K683Mc.2048A>TSubstitution - Missense
KLKB1ENSG00000164344ENST00000264690p.G420Vc.1259G>TSubstitution - Missense
TLR3ENSG00000164342ENST00000296795p.C28Cc.84C>TSubstitution - coding silent
STOX2ENSG00000173320ENST00000308497p.L636Lc.1908C>TSubstitution - coding silent
STOX2ENSG00000173320ENST00000308497p.L660Lc.1980C>TSubstitution - coding silent
ZFYVE28ENSG00000159733ENST00000290974p.P327Sc.979C>TSubstitution - Missense
ZFYVE28ENSG00000159733ENST00000290974p.?c.702-9C>GUnknown
FAT1ENSG00000083857ENST00000441802p.V1464Ic.4390G>ASubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.V1464Ic.4390G>ASubstitution - Missense
FAM193AENSG00000125386ENST00000382839p.N1154Dc.3460A>GSubstitution - Missense
ZCCHC4ENSG00000168228ENST00000302874p.?c.1406+3C>TUnknown
PRRC1ENSG00000164244ENST00000296666p.S41Fc.122C>TSubstitution - Missense
PRRC1ENSG00000164244ENST00000442138p.S41Fc.122C>TSubstitution - Missense
SNCAIPENSG00000064692ENST00000261368p.I53Ic.159C>ASubstitution - coding silent
SNCAIPENSG00000064692ENST00000379533p.I100Ic.300C>ASubstitution - coding silent
SNCAIPENSG00000064692ENST00000503116p.I100Ic.300C>ASubstitution - coding silent
SNCAIPENSG00000064692ENST00000261368p.G195Ac.584G>CSubstitution - Missense
SLC22A4ENSG00000197208ENST00000200652p.F252Lc.756C>ASubstitution - Missense
CHSY3ENSG00000198108ENST00000305031p.P752Ac.2254C>GSubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.F639Lc.1915T>CSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.F639Lc.1915T>CSubstitution - Missense
SEC24AENSG00000113615ENST00000398844p.T941Tc.2823A>TSubstitution - coding silent
VCANENSG00000038427ENST00000265077p.S740Sc.2220T>CSubstitution - coding silent
GPR98ENSG00000164199ENST00000405460p.I2848Ic.8544C>TSubstitution - coding silent
PABPC5ENSG00000174740ENST00000312600p.Y246*c.738T>GSubstitution - Nonsense
ZNF236ENSG00000130856ENST00000543926p.S1442Sc.4326C>TSubstitution - coding silent
ZNF407ENSG00000215421ENST00000582337p.C1539Cc.4617C>TSubstitution - coding silent
ZNF407ENSG00000215421ENST00000299687p.C1539Cc.4617C>TSubstitution - coding silent
PPAN-P2RY11ENSG00000243207ENST00000393796p.E765Qc.2293G>CSubstitution - Missense
P2RY11ENSG00000244165ENST00000321826p.E345Qc.1033G>CSubstitution - Missense
GGA1ENSG00000100083ENST00000343632p.S463Gc.1387A>GSubstitution - Missense
LAMA4ENSG00000112769ENST00000389463p.L1751Lc.5253G>ASubstitution - coding silent
ROS1ENSG00000047936ENST00000368507p.S656Lc.1967C>TSubstitution - Missense
ZFXENSG00000005889ENST00000379188p.V67Vc.201T>CSubstitution - coding silent
CNKSR2ENSG00000149970ENST00000379510p.L99Pc.296T>CSubstitution - Missense
DMDENSG00000198947ENST00000378677p.E1126*c.3376G>TSubstitution - Nonsense
DMDENSG00000198947ENST00000378707p.E1003*c.3007G>TSubstitution - Nonsense
DMDENSG00000198947ENST00000378677p.E3459*c.10375G>TSubstitution - Nonsense
ENST00000378682p.E2122*c.6364G>TSubstitution - Nonsense
DPP10ENSG00000175497ENST00000410059p.E444Ec.1332A>GSubstitution - coding silent
MYO7BENSG00000169994ENST00000428314p.L376Lc.1128C>TSubstitution - coding silent
CNTNAP5ENSG00000155052ENST00000431078p.R346Kc.1037G>ASubstitution - Missense
FEVENSG00000163497ENST00000295727p.G70Sc.208G>ASubstitution - Missense
ZFAND2BENSG00000158552ENST00000289528p.A40Tc.118G>ASubstitution - Missense
ZFAND2BENSG00000158552ENST00000444522p.A40Tc.118G>ASubstitution - Missense
WDFY1ENSG00000085449ENST00000233055p.E354Kc.1060G>ASubstitution - Missense
SPHKAPENSG00000153820ENST00000392056p.P10Pc.30A>GSubstitution - coding silent
XM_051221.5p.P10Pc.30A>GSubstitution - coding silent
SPTBN1ENSG00000115306ENST00000356805p.E829Ec.2487G>ASubstitution - coding silent
SPTBN1ENSG00000115306ENST00000333896p.E816Ec.2448G>ASubstitution - coding silent
CLHC1ENSG00000162994ENST00000407122p.E77Qc.229G>CSubstitution - Missense
ARHGAP25ENSG00000163219ENST00000409220p.W426Cc.1278G>TSubstitution - Missense
FAM161AENSG00000170264ENST00000405894p.P76Pc.228G>TSubstitution - coding silent
COL6A5ENSG00000172752ENST00000265379p.L2062Lc.6186A>GSubstitution - coding silent
COL6A5ENSG00000172752ENST00000312481p.L101Lc.303A>GSubstitution - coding silent
IQSEC1ENSG00000144711ENST00000273221p.L546Lc.1638C>TSubstitution - coding silent
IQSEC1ENSG00000144711ENST00000429247p.L532Lc.1596C>TSubstitution - coding silent
IQSEC1ENSG00000144711ENST00000450726p.L547Fc.1639C>TSubstitution - Missense
ENST00000358511_v70p.V219Ac.656T>CSubstitution - Missense
EFCAB6ENSG00000186976ENST00000262726p.D829fs*4c.2485delGDeletion - Frameshift
TUBGCP6ENSG00000128159ENST00000248846p.A1515Vc.4544C>TSubstitution - Missense
SLC6A20ENSG00000163817ENST00000358525p.F397Fc.1191C>TSubstitution - coding silent
SNRKENSG00000163788ENST00000454177p.S675Yc.2024C>ASubstitution - Missense
SNRKENSG00000163788ENST00000454177p.S675Yc.2024C>ASubstitution - Missense
SETD2ENSG00000181555ENST00000409792p.Q1750Hc.5250G>CSubstitution - Missense
NAIPENSG00000249437ENST00000517649p.E158Qc.472G>CSubstitution - Missense
COL4A3BPENSG00000113163ENST00000380494p.F214Yc.641T>ASubstitution - Missense
ARHGEF28ENSG00000214944ENST00000545377p.R1334Tc.4001G>CSubstitution - Missense
NAIPENSG00000249437ENST00000517649p.E158Qc.472G>CSubstitution - Missense
PDE8BENSG00000113231ENST00000264917p.V818Vc.2454G>ASubstitution - coding silent
IQGAP2ENSG00000145703ENST00000274364p.E1021Qc.3061G>CSubstitution - Missense
SLC26A8ENSG00000112053ENST00000355574p.K525Nc.1575G>CSubstitution - Missense
TRERF1ENSG00000124496ENST00000372922p.S298Lc.893C>TSubstitution - Missense
USP49ENSG00000164663ENST00000394253p.T647Tc.1941C>TSubstitution - coding silent
USP49ENSG00000164663ENST00000373006p.A228Tc.682G>ASubstitution - Missense
TREM1ENSG00000124731ENST00000244709p.K65Rc.194A>GSubstitution - Missense
KLC4ENSG00000137171ENST00000394056p.E101Ec.303G>ASubstitution - coding silent
KLC4ENSG00000137171ENST00000458460p.E101Ec.303G>ASubstitution - coding silent
GNMTENSG00000124713ENST00000372808p.D152Nc.454G>ASubstitution - Missense
VGFENSG00000128564ENST00000249330p.F12Fc.36C>TSubstitution - coding silent
MUC17ENSG00000169876ENST00000306151p.P3676Ac.11026C>GSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.S3793Lc.11378C>TSubstitution - Missense
POM121ENSG00000196313ENST00000257622p.A739_A740insPAc.2216_2217insCCCGGCInsertion - In frame
POM121ENSG00000196313ENST00000395270p.A739_A740insPAc.2216_2217insCCCGGCInsertion - In frame
MLXIPLENSG00000009950ENST00000313375p.R307Hc.920G>ASubstitution - Missense
BNC2ENSG00000173068ENST00000380672p.G252Vc.755G>TSubstitution - Missense
IFNA16ENSG00000147885ENST00000380216p.I19Ic.57C>TSubstitution - coding silent
PTPLAD2ENSG00000188921ENST00000513293p.L63Pc.188T>CSubstitution - Missense
STARD8ENSG00000130052ENST00000252336p.A679Ac.2037A>TSubstitution - coding silent
STARD8ENSG00000130052ENST00000252336p.A679Ac.2037A>TSubstitution - coding silent
VCX3BENSG00000205642ENST00000381029p.E199Vc.596A>TSubstitution - Missense
VCX3BENSG00000205642ENST00000444481p.E201*c.601G>TSubstitution - Nonsense
CYLC1ENSG00000183035ENST00000329312p.K474Nc.1422G>TSubstitution - Missense
CYLC1ENSG00000183035ENST00000329312p.K474Nc.1422G>TSubstitution - Missense
VCX2ENSG00000177504ENST00000317103p.E119Kc.355G>ASubstitution - Missense
BRWD3ENSG00000165288ENST00000373275p.G1469Vc.4406G>TSubstitution - Missense
VCXENSG00000182583ENST00000381059p.E181*c.541G>TSubstitution - Nonsense
SLC9A4ENSG00000180251ENST00000295269p.?c.257-6C>TUnknown
TBC1D8ENSG00000204634ENST00000376840p.D249Nc.745G>ASubstitution - Missense
NPHP1ENSG00000144061ENST00000316534p.E677Qc.2029G>CSubstitution - Missense
TRANK1ENSG00000168016ENST00000429976p.S1888*c.5663C>GSubstitution - Nonsense
TRANK1ENSG00000168016ENST00000428977p.S1338*c.4013C>GSubstitution - Nonsense
PDCD6IPENSG00000170248ENST00000307296p.V297Vc.891G>ASubstitution - coding silent
CNOT10ENSG00000182973ENST00000328834p.C398Sc.1193G>CSubstitution - Missense
PLCD1ENSG00000187091ENST00000463876p.L756Lc.2268C>TSubstitution - coding silent
PLCD1ENSG00000187091ENST00000334661p.L735Lc.2205C>TSubstitution - coding silent
TRANK1ENSG00000168016ENST00000429976p.R947Sc.2839C>ASubstitution - Missense
TRANK1ENSG00000168016ENST00000428977p.R397Sc.1189C>ASubstitution - Missense
TRANK1ENSG00000168016ENST00000301807p.R397Sc.1189C>ASubstitution - Missense
CHL1ENSG00000134121ENST00000256509p.T405Ic.1214C>TSubstitution - Missense
SCN10AENSG00000185313ENST00000449082p.K416Kc.1248G>ASubstitution - coding silent
SLC26A1ENSG00000145217ENST00000398520p.I111Ic.333C>TSubstitution - coding silent
CHL1ENSG00000134121ENST00000256509p.N706Nc.2118C>TSubstitution - coding silent
CAMK4ENSG00000152495ENST00000512453p.D178Yc.532G>TSubstitution - Missense
ENSG00000172901ENST00000357872p.G385Rc.1153G>ASubstitution - Missense
REEP5ENSG00000129625ENST00000379638p.N79Nc.237C>TSubstitution - coding silent
ELMO3ENSG00000102890ENST00000393997p.L400Lc.1200G>ASubstitution - coding silent
FAM96BENSG00000166595ENST00000422424p.D77Nc.229G>ASubstitution - Missense
SLC7A6ENSG00000103064ENST00000219343p.M358Ic.1074G>ASubstitution - Missense
DYSFENSG00000135636ENST00000410020p.E903Kc.2707G>ASubstitution - Missense
DYSFENSG00000135636ENST00000258104p.E885Kc.2653G>ASubstitution - Missense
TTC31ENSG00000115282ENST00000233623p.R351Wc.1051C>TSubstitution - Missense
SLC4A5ENSG00000188687ENST00000394019p.L1018Vc.3052C>GSubstitution - Missense
NM_004389.1p.V521Mc.1561G>ASubstitution - Missense
SUCLG1ENSG00000163541ENST00000393868p.H71Yc.211C>TSubstitution - Missense
HK2ENSG00000159399ENST00000290573p.E810Kc.2428G>ASubstitution - Missense
ARHGEF26ENSG00000114790ENST00000356448p.S799Lc.2396C>TSubstitution - Missense
CLRN1ENSG00000163646ENST00000295911p.L14Vc.40C>GSubstitution - Missense
IQCJ-SCHIP1ENSG00000250588ENST00000485419p.I338Mc.1014C>GSubstitution - Missense
ENST00000313019p.A155Ac.465C>GSubstitution - coding silent
GPR149ENSG00000174948ENST00000389740p.T458Tc.1374C>ASubstitution - coding silent
ARHGEF26ENSG00000114790ENST00000356448p.S799Lc.2396C>TSubstitution - Missense
ARHGEF26ENSG00000114790ENST00000356448p.S799Lc.2396C>TSubstitution - Missense
EXOSC9ENSG00000123737ENST00000379663p.N456Dc.1366A>GSubstitution - Missense
MYOZ2ENSG00000172399ENST00000307128p.S101Sc.303G>ASubstitution - coding silent
USP53ENSG00000145390ENST00000274030p.R476Qc.1427G>ASubstitution - Missense
MAEAENSG00000090316ENST00000303400p.D306Yc.916G>TSubstitution - Missense
LARP1BENSG00000138709ENST00000326639p.V384Mc.1150G>ASubstitution - Missense
GRM6ENSG00000113262ENST00000231188p.S453Sc.1359C>TSubstitution - coding silent
CDH12ENSG00000154162ENST00000382254p.P706Ac.2116C>GSubstitution - Missense
NHSL1ENSG00000135540ENST00000343505p.S1329Fc.3986C>TSubstitution - Missense
NHSL1ENSG00000135540ENST00000342260p.S1375Fc.4124C>TSubstitution - Missense
RXFP3ENSG00000182631ENST00000330120p.E442Kc.1324G>ASubstitution - Missense
STX11ENSG00000135604ENST00000367568p.Q148Kc.442C>ASubstitution - Missense
NUP43ENSG00000120253ENST00000367403p.E19Qc.55G>CSubstitution - Missense
STXBP5ENSG00000164506ENST00000367481p.T748Tc.2244A>GSubstitution - coding silent
VIPENSG00000146469ENST00000367244p.P32Sc.94C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.V1090Gc.3269T>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.V1090Gc.3269T>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.E3324Kc.9970G>ASubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.I3220Mc.9660C>GSubstitution - Missense
ABCB5ENSG00000004846ENST00000404938p.Q524*c.1570C>TSubstitution - Nonsense
ABCB5ENSG00000004846ENST00000258738p.Q79*c.235C>TSubstitution - Nonsense
CREB5ENSG00000146592ENST00000357727p.S137Sc.411G>ASubstitution - coding silent
IGF2BP3ENSG00000136231ENST00000258729p.F464Fc.1392C>TSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.E1939Gc.5816A>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.E1939Gc.5816A>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.E1870Gc.5609A>GSubstitution - Missense
BRCC3ENSG00000185515ENST00000369462p.?c.755+6G>TUnknown
DCAF8L1ENSG00000226372ENST00000441525p.R329Tc.986G>CSubstitution - Missense
XM_293407.3p.D65Yc.193G>TSubstitution - Missense
NIF3L1ENSG00000196290ENST00000409020p.P126Tc.376C>ASubstitution - Missense
HSPD1ENSG00000144381ENST00000388968p.D452Hc.1354G>CSubstitution - Missense
WDR12ENSG00000138442ENST00000261015p.?c.883-3C>TUnknown
TRAK2ENSG00000115993ENST00000332624p.V827Ac.2480T>CSubstitution - Missense
PARD3BENSG00000116117ENST00000358768p.G308fs*2c.921_922insTInsertion - Frameshift
PARD3BENSG00000116117ENST00000358768p.G308fs*2c.921_922insTInsertion - Frameshift
DNMT3AENSG00000119772ENST00000321117p.F755Sc.2264T>CSubstitution - Missense
GPR128ENSG00000144820ENST00000273352p.S287Cc.860C>GSubstitution - Missense
KAT8ENSG00000103510ENST00000219797p.R362Cc.1084C>TSubstitution - Missense
ZSCAN10ENSG00000130182ENST00000252463p.E285Kc.853G>ASubstitution - Missense
NMRAL1ENSG00000153406ENST00000283429p.?c.279+5G>CUnknown
GRIN2AENSG00000183454ENST00000396573p.E1143Kc.3427G>ASubstitution - Missense
ZNF276ENSG00000158805ENST00000443381p.?c.1007-5C>GUnknown
ZNF276ENSG00000158805ENST00000289816p.?c.782-5C>GUnknown
ZNF841ENSG00000197608ENST00000389534p.V88Mc.262G>ASubstitution - Missense
ZNF841ENSG00000197608ENST00000389534p.V88Mc.262G>ASubstitution - Missense
ZNF83ENSG00000167766ENST00000301096p.H335Qc.1005C>GSubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.A1897Tc.5689G>ASubstitution - Missense
ZNF845ENSG00000213799ENST00000458035p.E772Ec.2316G>ASubstitution - coding silent
COL20A1ENSG00000101203ENST00000326996p.L676Pc.2027T>CSubstitution - Missense
COL20A1ENSG00000101203ENST00000358894p.L676Pc.2027T>CSubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.V1806Vc.5418C>GSubstitution - coding silent
UCKL1ENSG00000198276ENST00000354216p.G175Vc.524G>TSubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.A2380Ac.7140C>ASubstitution - coding silent
NRIP1ENSG00000180530ENST00000400199p.V946fs*9c.2837_2838delTGDeletion - Frameshift
PITPNBENSG00000180957ENST00000335272p.?c.534+5T>GUnknown
PITPNBENSG00000180957ENST00000455418p.?c.540+5T>GUnknown
C2orf16ENSG00000221843ENST00000408964p.G757Gc.2271G>ASubstitution - coding silent
C2orf16ENSG00000221843ENST00000408964p.G757Gc.2271G>ASubstitution - coding silent
TRIM54ENSG00000138100ENST00000296098p.E132delEc.394_396delGAGDeletion - In frame
NM_032546.2p.E116delEc.346_348delGAGDeletion - In frame
TOM1ENSG00000100284ENST00000449058p.T260Tc.780G>ASubstitution - coding silent
XDHENSG00000158125ENST00000379416p.N1325Kc.3975C>ASubstitution - Missense
GALNT14ENSG00000158089ENST00000349752p.L518Ic.1552C>ASubstitution - Missense
C2orf71ENSG00000179270ENST00000331664p.V45Ic.133G>ASubstitution - Missense
FAM179AENSG00000189350ENST00000379558p.?c.1854-3C>TUnknown
CRIM1ENSG00000150938ENST00000280527p.N908Nc.2724T>CSubstitution - coding silent
BIRC6ENSG00000115760ENST00000421745p.Q2450*c.7348C>TSubstitution - Nonsense
BIRC6ENSG00000115760ENST00000421745p.D693Hc.2077G>CSubstitution - Missense
KAT2BENSG00000114166ENST00000263754p.E456Kc.1366G>ASubstitution - Missense
EFHBENSG00000163576ENST00000295824p.?c.1934-1G>TUnknown
TOP2BENSG00000077097ENST00000435706p.?c.4601-9C>TUnknown
DAPP1ENSG00000070190ENST00000512369p.Q222Kc.664C>ASubstitution - Missense
EMCNENSG00000164035ENST00000296420p.T203Ic.608C>TSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.P1548Rc.4643C>GSubstitution - Missense
FRAS1ENSG00000138759ENST00000325942p.P1548Rc.4643C>GSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.C875Cc.2625C>TSubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.L882Lc.2646C>TSubstitution - coding silent
PKD2ENSG00000118762ENST00000237596p.L415Lc.1245G>ASubstitution - coding silent
FGFR1ENSG00000077782ENST00000447712p.R54Cc.160C>TSubstitution - Missense
STARENSG00000147465ENST00000276449p.G105Rc.313G>ASubstitution - Missense
ANK1ENSG00000029534ENST00000347528p.V549Lc.1645G>CSubstitution - Missense
ADAM32ENSG00000197140ENST00000379907p.L477Sc.1430T>CSubstitution - Missense
FGFR1ENSG00000077782ENST00000335922p.R46Cc.136C>TSubstitution - Missense
FNTAENSG00000168522ENST00000302279p.S245Fc.734C>TSubstitution - Missense
CHDC2ENSG00000176034ENST00000378660p.S148*c.443C>ASubstitution - Nonsense
ZNF41ENSG00000147124ENST00000313116p.Q331Hc.993A>TSubstitution - Missense
CXorf36ENSG00000147113ENST00000398000p.L181Lc.541C>TSubstitution - coding silent
SLC38A5ENSG00000017483ENST00000376876p.A122Ac.366G>ASubstitution - coding silent
ABCA8ENSG00000141338ENST00000269080p.E1580Qc.4738G>CSubstitution - Missense
ZNF497ENSG00000174586ENST00000311044p.L29Lc.87C>TSubstitution - coding silent
ABCA5ENSG00000154265ENST00000392676p.F321Lc.961T>CSubstitution - Missense
ABCA5ENSG00000154265ENST00000392676p.S118Fc.353C>TSubstitution - Missense
NM_003985p.T514Kc.1541C>ASubstitution - Missense
STARD7ENSG00000084090ENST00000337288p.E12Qc.34G>CSubstitution - Missense
SNRNP200ENSG00000144028ENST00000323853p.?c.4916-3C>TUnknown
ROBO2ENSG00000185008ENST00000487694p.R1190Ic.3569G>TSubstitution - Missense
ROBO2ENSG00000185008ENST00000487694p.L106*c.317T>ASubstitution - Nonsense
FRG2CENSG00000172969ENST00000308062p.C114Sc.341G>CSubstitution - Missense
LMCD1ENSG00000071282ENST00000157600p.I315Lc.943A>TSubstitution - Missense
CADM2ENSG00000175161ENST00000405615p.G40Vc.119G>TSubstitution - Missense
ANKS3ENSG00000168096ENST00000304283p.E90Kc.268G>ASubstitution - Missense
SLC6A2ENSG00000103546ENST00000379906p.V468Ic.1402G>ASubstitution - Missense
TBC1D3FENSG00000185128ENST00000327454p.M120Ic.360G>CSubstitution - Missense
ERBB2ENSG00000141736ENST00000269571p.I628Ic.1884C>TSubstitution - coding silent
GRB7ENSG00000141738ENST00000309156p.D4Nc.10G>ASubstitution - Missense
ERBB2ENSG00000141736ENST00000269571p.L62Lc.186C>GSubstitution - coding silent
ADAMTS1ENSG00000154734ENST00000284984p.G747Ec.2240G>ASubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.E982Kc.2944G>ASubstitution - Missense
TBC1D1ENSG00000065882ENST00000261439p.E210fs*101c.629delADeletion - Frameshift
GRXCR1ENSG00000215203ENST00000399770p.S259Pc.775T>CSubstitution - Missense
PDS5AENSG00000121892ENST00000303538p.V302Vc.906T>CSubstitution - coding silent
WDR19ENSG00000157796ENST00000399820p.S1244Fc.3731C>TSubstitution - Missense
RFC1ENSG00000035928ENST00000381897p.S442Gc.1324A>GSubstitution - Missense
KLBENSG00000134962ENST00000257408p.?c.826-5T>CUnknown
LAMB2ENSG00000172037ENST00000305544p.Q418Ec.1252C>GSubstitution - Missense
TXKENSG00000074966ENST00000264316p.L242Lc.726C>GSubstitution - coding silent
MAPKAPK3ENSG00000114738ENST00000446044p.I281Ic.843C>TSubstitution - coding silent
DLL1ENSG00000198719ENST00000366756p.?c.352-1G>AUnknown
GPLD1ENSG00000112293ENST00000230036p.?c.441+3G>CUnknown
CREB3L2ENSG00000182158ENST00000452463p.R16Pc.47G>CSubstitution - Missense
FAM180AENSG00000189320ENST00000338588p.I73Lc.217A>CSubstitution - Missense
DENND2AENSG00000146966ENST00000275884p.A772Tc.2314G>ASubstitution - Missense
TBXAS1ENSG00000059377ENST00000416849p.V187Vc.561G>ASubstitution - coding silent
SAMD9LENSG00000177409ENST00000318238p.M389Ic.1167G>CSubstitution - Missense
STEAP2ENSG00000157214ENST00000394626p.L141Lc.423G>ASubstitution - coding silent
ASB4ENSG00000005981ENST00000325885p.S254Yc.761C>ASubstitution - Missense
PDK4ENSG00000004799ENST00000005178p.S381Sc.1143A>CSubstitution - coding silent
PLECENSG00000178209ENST00000436759p.R3247Qc.9740G>ASubstitution - Missense
MROH1ENSG00000179832ENST00000528919p.A16Tc.46G>ASubstitution - Missense
MROH1ENSG00000179832ENST00000423230p.A16Tc.46G>ASubstitution - Missense
SLC7A2ENSG00000003989ENST00000494857p.?c.1298+10C>AUnknown
ZFHX4ENSG00000091656ENST00000521891p.E3183Qc.9547G>CSubstitution - Missense
CRISPLD1ENSG00000121005ENST00000262207p.L441Qc.1322T>ASubstitution - Missense
NM_007332.1p.H321Rc.962A>GSubstitution - Missense
SLC14A2ENSG00000132874ENST00000255226p.A548Sc.1642G>TSubstitution - Missense
SERPINB13ENSG00000197641ENST00000344731p.E265Dc.795G>TSubstitution - Missense
KDSRENSG00000119537ENST00000406396p.A57Gc.170C>GSubstitution - Missense
SERPINB5ENSG00000206075ENST00000382771p.K371Nc.1113A>TSubstitution - Missense
MYH10ENSG00000133026ENST00000269243p.E1230Dc.3690G>TSubstitution - Missense
CEP76ENSG00000101624ENST00000262127p.C364Rc.1090T>CSubstitution - Missense
ANKRD62ENSG00000181626ENST00000314074p.Q829Qc.2487A>GSubstitution - coding silent
NLRP7ENSG00000167634ENST00000448121p.T203Mc.608C>TSubstitution - Missense
ENST00000278882_v61p.?c.537-2A>GUnknown
DEFB118ENSG00000131068ENST00000253381p.R88Rc.264G>ASubstitution - coding silent
DIP2AENSG00000160305ENST00000457905p.Y582Yc.1746C>TSubstitution - coding silent
PCNTENSG00000160299ENST00000359568p.Q1014Ec.3040C>GSubstitution - Missense
ENST00000400522_v68p.K346Nc.1038G>CSubstitution - Missense
EFCAB8ENSG00000215529ENST00000400522p.K346Nc.1038G>CSubstitution - Missense
FASTKD5ENSG00000215251ENST00000380266p.D102Hc.304G>CSubstitution - Missense
DGCR6ENSG00000183628ENST00000331444p.S26Lc.77C>TSubstitution - Missense
AGPSENSG00000018510ENST00000264167p.E596Kc.1786G>ASubstitution - Missense
TTC30AENSG00000197557ENST00000355689p.L578Lc.1732C>TSubstitution - coding silent
HOXD11ENSG00000128713ENST00000249504p.C271*c.813T>ASubstitution - Nonsense
EVX2ENSG00000174279ENST00000308618p.S106Pc.316T>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.E20777Qc.62329G>CSubstitution - Missense
ENST00000356127p.I20749Mc.62247C>GSubstitution - Missense
NM_003319p.I14254Mc.42762C>GSubstitution - Missense
ZNF492ENSG00000229676ENST00000456783p.K394Rc.1181A>GSubstitution - Missense
ZNF536ENSG00000198597ENST00000355537p.S827Ic.2480G>TSubstitution - Missense
ZNF536ENSG00000198597ENST00000355537p.A271Vc.812C>TSubstitution - Missense
SNRNP70ENSG00000104852ENST00000221448p.E81Kc.241G>ASubstitution - Missense
DPY19L3ENSG00000178904ENST00000342179p.V611Vc.1833T>GSubstitution - coding silent
SCAF1ENSG00000126461ENST00000360565p.A1186Gc.3557C>GSubstitution - Missense
NAPSAENSG00000131400ENST00000253719p.E197Ec.591A>GSubstitution - coding silent
LILRA5ENSG00000187116ENST00000301219p.L26Lc.76C>TSubstitution - coding silent
KLK14ENSG00000129437ENST00000391802p.?c.88+5G>CUnknown
NM_022046.3p.?c.40+5G>CUnknown
CTU1ENSG00000142544ENST00000421832p.S217Wc.650C>GSubstitution - Missense
CEP250ENSG00000126001ENST00000397527p.N2343Nc.7029C>TSubstitution - coding silent
EIF6ENSG00000242372ENST00000374436p.T213Tc.639A>GSubstitution - coding silent
RPN2ENSG00000118705ENST00000237530p.L438Lc.1314C>GSubstitution - coding silent
SRCENSG00000197122ENST00000445403p.?c.860-6C>TUnknown
DPM1ENSG00000000419ENST00000371584p.?c.259+1G>AUnknown
ZFP64ENSG00000020256ENST00000216923p.R241Hc.722G>ASubstitution - Missense
ZFP64ENSG00000020256ENST00000216923p.R241Hc.722G>ASubstitution - Missense
ZFP64ENSG00000020256ENST00000361387p.R241Hc.722G>ASubstitution - Missense
FLNCENSG00000128591ENST00000325888p.A1922Tc.5764G>ASubstitution - Missense
CCDC136ENSG00000128596ENST00000297788p.?c.1249-9C>GUnknown
RBM28ENSG00000106344ENST00000223073p.G537Gc.1611T>CSubstitution - coding silent
SCINENSG00000006747ENST00000297029p.T689Ac.2065A>GSubstitution - Missense
SCINENSG00000006747ENST00000297029p.T689Ac.2065A>GSubstitution - Missense
CEP41ENSG00000106477ENST00000223208p.D102Nc.304G>ASubstitution - Missense
TMEM209ENSG00000146842ENST00000397622p.E354Dc.1062G>TSubstitution - Missense
CPA2ENSG00000158516ENST00000222481p.?c.585+3C>TUnknown
TAF1LENSG00000122728ENST00000242310p.R1138Sc.3412C>ASubstitution - Missense
TAF1LENSG00000122728ENST00000242310p.G412Dc.1235G>ASubstitution - Missense
ACO1ENSG00000122729ENST00000379923p.D868Nc.2602G>ASubstitution - Missense
TEKENSG00000120156ENST00000380036p.?c.3104-7C>GUnknown
GLIS3ENSG00000107249ENST00000381971p.H465Hc.1395T>CSubstitution - coding silent
ANKRD18AENSG00000180071ENST00000399703p.G12Gc.36C>TSubstitution - coding silent
KDM4CENSG00000107077ENST00000381306p.V676Ic.2026G>ASubstitution - Missense
NEK4ENSG00000114904ENST00000233027p.E330Gc.989A>GSubstitution - Missense
TMEM2ENSG00000135048ENST00000377044p.?c.1394-9A>GUnknown
FLNBENSG00000136068ENST00000295956p.?c.1484-1G>AUnknown
HESX1ENSG00000163666ENST00000295934p.Y132Fc.395A>TSubstitution - Missense
ADAMTS9ENSG00000163638ENST00000498707p.Q653Ec.1957C>GSubstitution - Missense
EBF2ENSG00000221818ENST00000520164p.A329Sc.985G>TSubstitution - Missense
DOCK5ENSG00000147459ENST00000276440p.Q1359*c.4075C>TSubstitution - Nonsense
DCAF4L2ENSG00000176566ENST00000319675p.Q258Qc.774A>GSubstitution - coding silent
CNGB3ENSG00000170289ENST00000320005p.?c.1782-9C>GUnknown
SLC7A13ENSG00000164893ENST00000297524p.E450Qc.1348G>CSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.S3533*c.10598C>ASubstitution - Nonsense
ENST00000318252p.S3262*c.9785C>ASubstitution - Nonsense
CDH17ENSG00000079112ENST00000027335p.L94Pc.281T>CSubstitution - Missense
SCN4AENSG00000007314ENST00000435607p.V1218Vc.3654C>ASubstitution - coding silent
SCN4AENSG00000007314ENST00000435607p.E409Dc.1227G>CSubstitution - Missense
SCN4AENSG00000007314ENST00000435607p.K175Nc.525G>TSubstitution - Missense
PRKCAENSG00000154229ENST00000413366p.K359Ec.1075A>GSubstitution - Missense
LRRC37A3ENSG00000176809ENST00000319651p.T1543Tc.4629G>ASubstitution - coding silent
UNC119ENSG00000109103ENST00000335765p.R139Hc.416G>ASubstitution - Missense
ENST00000333261p.R193Kc.578G>ASubstitution - Missense
FLOT2ENSG00000132589ENST00000394908p.R217Qc.650G>ASubstitution - Missense
ENST00000411702p.S1935Fc.5804C>TSubstitution - Missense
SGSHENSG00000181523ENST00000326317p.L236Lc.708G>ASubstitution - coding silent
ALOX15BENSG00000179593ENST00000380183p.E671Qc.2011G>CSubstitution - Missense
FASNENSG00000169710ENST00000306749p.G221Rc.661G>CSubstitution - Missense
SETBP1ENSG00000152217ENST00000426838p.D84Dc.252T>CSubstitution - coding silent
ZNF700ENSG00000196757ENST00000254321p.F33Ic.97T>ASubstitution - Missense
ETS2ENSG00000157557ENST00000360214p.L417Lc.1251G>ASubstitution - coding silent
C21orf33ENSG00000160221ENST00000291577p.?c.195-7C>TUnknown
RRP1BENSG00000160208ENST00000340648p.L726Mc.2176C>ASubstitution - Missense
UNC79ENSG00000133958ENST00000256339p.S2420Sc.7260G>CSubstitution - coding silent
ANKDD1AENSG00000166839ENST00000380230p.A298Dc.893C>ASubstitution - Missense
CSNK1G1ENSG00000169118ENST00000303052p.F55Lc.163T>CSubstitution - Missense
CLN6ENSG00000128973ENST00000249806p.?c.198+9G>AUnknown
IQCHENSG00000103599ENST00000335894p.E465*c.1393G>TSubstitution - Nonsense
DENND4AENSG00000174485ENST00000431932p.N1109Hc.3325A>CSubstitution - Missense
TGFBR3ENSG00000069702ENST00000212355p.S173Lc.518C>TSubstitution - Missense
GBP3ENSG00000117226ENST00000370481p.E417Dc.1251A>CSubstitution - Missense
DPYDENSG00000188641ENST00000370192p.K249Tc.746A>CSubstitution - Missense
COL4A1ENSG00000187498ENST00000375820p.P745Qc.2234C>ASubstitution - Missense
DAOAENSG00000182346ENST00000375936p.V105Vc.315C>TSubstitution - coding silent
CARKDENSG00000213995ENST00000309957p.L56Rc.167T>GSubstitution - Missense
F10ENSG00000126218ENST00000375559p.C415Fc.1244G>TSubstitution - Missense
NM_014363.3p.N3340Nc.10020T>CSubstitution - coding silent
KATNBL1ENSG00000134152ENST00000256544p.E146Kc.436G>ASubstitution - Missense
AVENENSG00000169857ENST00000306730p.N291Hc.871A>CSubstitution - Missense
INO80ENSG00000128908ENST00000361937p.S1351Pc.4051T>CSubstitution - Missense
NUP155ENSG00000113569ENST00000231498p.K407Ic.1220A>TSubstitution - Missense
PTGER4ENSG00000171522ENST00000302472p.R258Rc.774G>ASubstitution - coding silent
WDR59ENSG00000103091ENST00000262144p.?c.1712+3G>AUnknown
ADAMTS18ENSG00000140873ENST00000282849p.A761Ec.2282C>ASubstitution - Missense
ADAMTS18ENSG00000140873ENST00000282849p.F392Fc.1176T>CSubstitution - coding silent
CDC27ENSG00000004897ENST00000531206p.R631Qc.1892G>ASubstitution - Missense
MYBBP1AENSG00000132382ENST00000254718p.E242Dc.726G>CSubstitution - Missense
ARID3AENSG00000116017ENST00000263620p.G137Rc.409G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.N2046Nc.6138T>CSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.K4789Nc.14367G>TSubstitution - Missense
ENST00000331986p.K422Nc.1266G>TSubstitution - Missense
OLFM2ENSG00000105088ENST00000264833p.T86Tc.258G>ASubstitution - coding silent
ANKEF1ENSG00000132623ENST00000378392p.E302Qc.904G>CSubstitution - Missense
GZF1ENSG00000125812ENST00000338121p.P236Sc.706C>TSubstitution - Missense
C20orf26ENSG00000089101ENST00000245957p.A1182Dc.3545C>ASubstitution - Missense
ITGA4ENSG00000115232ENST00000397033p.K95Nc.285G>CSubstitution - Missense
COL5A2ENSG00000204262ENST00000374866p.?c.1006-4A>GUnknown
RDH14ENSG00000240857ENST00000381249p.I225Vc.673A>GSubstitution - Missense
FSIP2ENSG00000188738ENST00000343098p.K264Nc.792G>TSubstitution - Missense
FSIP2ENSG00000188738ENST00000343098p.S976Rc.2928C>ASubstitution - Missense
ADAM23ENSG00000114948ENST00000264377p.R446Kc.1337G>ASubstitution - Missense
ADAM23ENSG00000114948ENST00000374416p.R446Kc.1337G>ASubstitution - Missense
PECRENSG00000115425ENST00000265322p.I34Ic.102C>TSubstitution - coding silent
ABCA12ENSG00000144452ENST00000272895p.G1643Sc.4927G>ASubstitution - Missense
CLVS1ENSG00000177182ENST00000325897p.V48Gc.143T>GSubstitution - Missense
RPS20ENSG00000008988ENST00000009589p.E14Qc.40G>CSubstitution - Missense
RP1ENSG00000104237ENST00000220676p.S1358Lc.4073C>TSubstitution - Missense
TRIM55ENSG00000147573ENST00000315962p.S259Lc.776C>TSubstitution - Missense
TRIM55ENSG00000147573ENST00000276573p.S259Lc.776C>TSubstitution - Missense
DCAF12L2ENSG00000198354ENST00000538699p.L373Lc.1119C>TSubstitution - coding silent
XM_172801.3p.F532Fc.1596C>TSubstitution - coding silent
GPC3ENSG00000147257ENST00000394299p.S60Lc.179C>TSubstitution - Missense
FRMD7ENSG00000165694ENST00000298542p.A400Vc.1199C>TSubstitution - Missense
ZNF280CENSG00000056277ENST00000370978p.E342Qc.1024G>CSubstitution - Missense
ELF4ENSG00000102034ENST00000335997p.T426Tc.1278G>ASubstitution - coding silent
MED16ENSG00000175221ENST00000325464p.S680Sc.2040G>CSubstitution - coding silent
MYO1FENSG00000142347ENST00000338257p.I502Vc.1504A>GSubstitution - Missense
ARMCX2ENSG00000184867ENST00000330154p.A277Ac.831G>ASubstitution - coding silent
NM_152583.1p.L6Ic.16C>ASubstitution - Missense
XM_042978.4p.A191Tc.571G>ASubstitution - Missense
FRMPD3ENSG00000147234ENST00000276185p.A142Tc.424G>ASubstitution - Missense
SLC43A2ENSG00000167703ENST00000301335p.?c.1425-4G>AUnknown
CDRT1ENSG00000241322ENST00000395906p.P739Pc.2217G>TSubstitution - coding silent
CDRT1ENSG00000241322ENST00000395906p.P239Pc.717G>TSubstitution - coding silent
MYO15AENSG00000091536ENST00000205890p.L1884Lc.5652G>ASubstitution - coding silent
TNRC6CENSG00000078687ENST00000301624p.R1346Qc.4037G>ASubstitution - Missense
DNAH2ENSG00000183914ENST00000389173p.I1652Tc.4955T>CSubstitution - Missense
LRR1ENSG00000165501ENST00000298288p.D145fs*6c.432_433insAInsertion - Frameshift
MDGA2ENSG00000139915ENST00000399232p.G1001Dc.3002G>ASubstitution - Missense
SOS2ENSG00000100485ENST00000216373p.K236Nc.708A>TSubstitution - Missense
NM_006575p.R771Hc.2312G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.T688Tc.2064A>GSubstitution - coding silent
CACNA1CENSG00000151067ENST00000399617p.T688Tc.2064A>GSubstitution - coding silent
CACNA1CENSG00000151067ENST00000402845p.T718Tc.2154A>GSubstitution - coding silent
CACNA1CENSG00000151067ENST00000399634p.T688Tc.2064A>GSubstitution - coding silent
ENST00000340286p.K10Nc.30G>CSubstitution - Missense
PPFIBP1ENSG00000110841ENST00000318304p.A446Tc.1336G>ASubstitution - Missense
ASUNENSG00000064102ENST00000261191p.R173Qc.518G>ASubstitution - Missense
CAPRIN2ENSG00000110888ENST00000251071p.P87Ac.259C>GSubstitution - Missense
CPNE8ENSG00000139117ENST00000331366p.D226Dc.678C>TSubstitution - coding silent
THBS3ENSG00000169231ENST00000368378p.G654Rc.1960G>ASubstitution - Missense
YY1AP1ENSG00000163374ENST00000368339p.?c.435+10G>TUnknown
YY1AP1ENSG00000163374ENST00000295566p.?c.219+10G>TUnknown
KDM5BENSG00000117139ENST00000367265p.E969Ec.2907G>ASubstitution - coding silent
MYBPHENSG00000133055ENST00000255416p.A57Pc.169G>CSubstitution - Missense
USP8ENSG00000138592ENST00000307179p.S88*c.263C>GSubstitution - Nonsense
PM20D1ENSG00000162877ENST00000367136p.R276Qc.827G>ASubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.Q361*c.1081C>TSubstitution - Nonsense
UNC13CENSG00000137766ENST00000260323p.Q361*c.1081C>TSubstitution - Nonsense
UNC13CENSG00000137766ENST00000260323p.D2195Ac.6584A>CSubstitution - Missense
PRCPENSG00000137509ENST00000393399p.E133Kc.397G>ASubstitution - Missense
PRCPENSG00000137509ENST00000313010p.E112Kc.334G>ASubstitution - Missense
GRM5ENSG00000168959ENST00000418177p.L441Pc.1322T>CSubstitution - Missense
GRM5ENSG00000168959ENST00000305432p.L441Pc.1322T>CSubstitution - Missense
SBNO1ENSG00000139697ENST00000267176p.A1392Tc.4174G>ASubstitution - Missense
VSTM5ENSG00000214376ENST00000409977p.C98*c.294C>ASubstitution - Nonsense
ENST00000409977_v68p.A87Gc.260C>GSubstitution - Missense
MTNR1BENSG00000134640ENST00000257068p.I276Ic.828C>TSubstitution - coding silent
TMEM132BENSG00000139364ENST00000299308p.Q334Ec.1000C>GSubstitution - Missense
UBCENSG00000150991ENST00000339647p.V602Vc.1806G>ASubstitution - coding silent
FZD10ENSG00000111432ENST00000229030p.S206Lc.617C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.E1074Kc.3220G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.Q1862*c.5584C>TSubstitution - Nonsense
PRDM2ENSG00000116731ENST00000235372p.T325Ic.974C>TSubstitution - Missense
PRDM2ENSG00000116731ENST00000235372p.S739Fc.2216C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.A167Dc.500C>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.A167Dc.500C>ASubstitution - Missense
RHCEENSG00000188672ENST00000294413p.G255Rc.763G>CSubstitution - Missense
OR2T27ENSG00000187701ENST00000344889p.V305Lc.913G>TSubstitution - Missense
OR2T33ENSG00000177212ENST00000318021p.I309Vc.925A>GSubstitution - Missense
ARID1AENSG00000117713ENST00000324856p.Q605*c.1813C>TSubstitution - Nonsense
LEPRENSG00000116678ENST00000349533p.?c.703+3A>TUnknown
CACHD1ENSG00000158966ENST00000290039p.R223Qc.668G>ASubstitution - Missense
ANKRD13CENSG00000118454ENST00000370944p.L131Lc.393C>TSubstitution - coding silent
LRRC7ENSG00000033122ENST00000035383p.I8Ic.24C>ASubstitution - coding silent
LRRC7ENSG00000033122ENST00000370958p.I46Ic.138C>ASubstitution - coding silent
LEPRENSG00000116678ENST00000344610p.?c.703+3A>TUnknown
C1orf173ENSG00000178965ENST00000326665p.R82Cc.244C>TSubstitution - Missense
LPHN2ENSG00000117114ENST00000359929p.Q329*c.985C>TSubstitution - Nonsense
EXOC5ENSG00000070367ENST00000413566p.I341Fc.1021A>TSubstitution - Missense
CLCA4ENSG00000016602ENST00000370563p.G468Dc.1403G>ASubstitution - Missense
ZNHIT6ENSG00000117174ENST00000370574p.P72Pc.216G>ASubstitution - coding silent
JKAMPENSG00000050130ENST00000261247p.P147Lc.440C>TSubstitution - Missense
JKAMPENSG00000050130ENST00000356057p.P145Lc.434C>TSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.E6647Dc.19941G>CSubstitution - Missense
SYNE2ENSG00000054654ENST00000458046p.E281Dc.843G>CSubstitution - Missense
EML5ENSG00000165521ENST00000554922p.A554Ac.1662C>TSubstitution - coding silent
CEP128ENSG00000100629ENST00000281129p.H162Yc.484C>TSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.N1546Dc.4636A>GSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.N1546Dc.4636A>GSubstitution - Missense
CCDC88CENSG00000015133ENST00000331194p.N70Dc.208A>GSubstitution - Missense
MMP27ENSG00000137675ENST00000260229p.K383Kc.1149G>ASubstitution - coding silent
NELL1ENSG00000165973ENST00000357134p.S74Rc.222T>ASubstitution - Missense
CASZ1ENSG00000130940ENST00000377022p.R85Rc.255G>ASubstitution - coding silent
FNDC7ENSG00000143107ENST00000271311p.E272Qc.814G>CSubstitution - Missense
MTORENSG00000198793ENST00000361445p.E427Dc.1281G>CSubstitution - Missense
CHIAENSG00000134216ENST00000369740p.F119Fc.357C>TSubstitution - coding silent
CHIAENSG00000134216ENST00000430615p.F11Fc.33C>TSubstitution - coding silent
EXOSC10ENSG00000171824ENST00000376936p.H91Hc.273T>CSubstitution - coding silent
FMO5ENSG00000131781ENST00000441068p.M145Ic.435G>TSubstitution - Missense
ENST00000436832p.L69Rc.206T>GSubstitution - Missense
SLC16A1ENSG00000155380ENST00000369626p.L164Lc.492C>GSubstitution - coding silent
CRB1ENSG00000134376ENST00000367400p.N1144Dc.3430A>GSubstitution - Missense
IGFALSENSG00000099769ENST00000215539p.A355Ac.1065G>ASubstitution - coding silent
TMC7ENSG00000170537ENST00000304381p.R342Ic.1025G>TSubstitution - Missense
SMG1ENSG00000157106ENST00000446231p.?c.948+3G>CUnknown
SU_SMG1p.?c.936+3G>CUnknown
ACSM2BENSG00000066813ENST00000329697p.P430Lc.1289C>TSubstitution - Missense
NM_020824.2p.E299Vc.896A>TSubstitution - Missense
SLC10A1ENSG00000100652ENST00000216540p.A64Tc.190G>ASubstitution - Missense
FAM161BENSG00000156050ENST00000286544p.A334Tc.1000G>ASubstitution - Missense
SNW1ENSG00000100603ENST00000261531p.?c.892-5A>GUnknown
RSL1D1ENSG00000171490ENST00000571133p.P444Ac.1330C>GSubstitution - Missense
SYNMENSG00000182253ENST00000336292p.E532*c.1594G>TSubstitution - Nonsense
ZNF488ENSG00000165388ENST00000395702p.R285Hc.854G>ASubstitution - Missense
TSR3ENSG00000007520ENST00000007390p.N198Nc.594C>TSubstitution - coding silent
CPPED1ENSG00000103381ENST00000381774p.I191Ic.573C>TSubstitution - coding silent
PCDH15ENSG00000150275ENST00000361849p.A1008Vc.3023C>TSubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.A1008Vc.3023C>TSubstitution - Missense
MBL2ENSG00000165471ENST00000373968p.T238Ic.713C>TSubstitution - Missense
PFKFB3ENSG00000170525ENST00000379775p.?c.1277-9G>AUnknown
PFKFB3ENSG00000170525ENST00000379785p.S521*c.1562C>GSubstitution - Nonsense
ANK3ENSG00000151150ENST00000280772p.N2862fs*16c.8583_8586delTAACDeletion - Frameshift
JMJD1CENSG00000171988ENST00000399262p.H1365Dc.4093C>GSubstitution - Missense
JMJD1CENSG00000171988ENST00000402544p.H1146Dc.3436C>GSubstitution - Missense
TET1ENSG00000138336ENST00000373644p.P1835Lc.5504C>TSubstitution - Missense
EHBP1L1ENSG00000173442ENST00000309295p.T701Ac.2101A>GSubstitution - Missense
DNHD1ENSG00000179532ENST00000254579p.Q74Qc.222G>ASubstitution - coding silent
TRIM3ENSG00000110171ENST00000525074p.H146Nc.436C>ASubstitution - Missense
SIPA1ENSG00000213445ENST00000394224p.N191Nc.573C>TSubstitution - coding silent
OXCT2ENSG00000198754ENST00000327582p.G272Rc.814G>CSubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.V2962Vc.8886A>GSubstitution - coding silent
FAM183AENSG00000186973ENST00000335282p.?c.298-1G>AUnknown
ZNF684ENSG00000117010ENST00000372699p.E94Kc.280G>ASubstitution - Missense
MED13LENSG00000123066ENST00000281928p.I1805Vc.5413A>GSubstitution - Missense
PLBD2ENSG00000151176ENST00000280800p.A260Tc.778G>ASubstitution - Missense
PEBP1ENSG00000089220ENST00000261313p.P50Ac.148C>GSubstitution - Missense
TAOK3ENSG00000135090ENST00000419821p.I388Ic.1164C>TSubstitution - coding silent
NOTCH2ENSG00000134250ENST00000256646p.?c.751+6G>TUnknown
PRAMEF1ENSG00000116721ENST00000332296p.A80Ac.240A>GSubstitution - coding silent
ENSAENSG00000143420ENST00000513281p.E19Kc.55G>ASubstitution - Missense
ECM1ENSG00000143369ENST00000369049p.?c.1474-1G>AUnknown
LINGO4ENSG00000213171ENST00000368820p.N488Sc.1463A>GSubstitution - Missense
SEMA6CENSG00000143434ENST00000341697p.S213Sc.639C>TSubstitution - coding silent
PLA2G4FENSG00000168907ENST00000382396p.A262Tc.784G>ASubstitution - Missense
SPTBN5ENSG00000137877ENST00000320955p.R342Rc.1026G>ASubstitution - coding silent
DCAF6ENSG00000143164ENST00000367843p.?c.439-6C>TUnknown
ZSCAN29ENSG00000140265ENST00000396976p.E570Dc.1710G>CSubstitution - Missense
SLC12A1ENSG00000074803ENST00000396577p.R1048Tc.3143G>CSubstitution - Missense
AJAP1ENSG00000196581ENST00000378190p.P57Pc.171G>CSubstitution - coding silent
CYP4A11ENSG00000187048ENST00000310638p.K286Nc.858G>CSubstitution - Missense
TCEANC2ENSG00000116205ENST00000234827p.Q16*c.46C>TSubstitution - Nonsense
SLC25A21ENSG00000183032ENST00000331299p.R178Qc.533G>ASubstitution - Missense
FOXA1ENSG00000129514ENST00000250448p.F396Lc.1186T>CSubstitution - Missense
ENST00000389961_v65p.T344Ic.1031C>TSubstitution - Missense
MKI67ENSG00000148773ENST00000368654p.L3065Lc.9195G>ASubstitution - coding silent
FAM196AENSG00000188916ENST00000522781p.S79Cc.236C>GSubstitution - Missense
TTC40ENSG00000171811ENST00000368586p.D627Dc.1881C>TSubstitution - coding silent
TTC40ENSG00000171811ENST00000368582p.D627Dc.1881C>TSubstitution - coding silent
PWWP2BENSG00000171813ENST00000305233p.D510Yc.1528G>TSubstitution - Missense
PPP1R13BENSG00000088808ENST00000202556p.K321Ec.961A>GSubstitution - Missense
EXOC3L4ENSG00000205436ENST00000380069p.T639Tc.1917C>ASubstitution - coding silent
METTL17ENSG00000165792ENST00000339374p.V399Gc.1196T>GSubstitution - Missense
OR4E2ENSG00000221977ENST00000408935p.T192Ac.574A>GSubstitution - Missense
PSME1ENSG00000092010ENST00000206451p.K155Kc.465G>ASubstitution - coding silent
OSBPENSG00000110048ENST00000263847p.A181Ac.543C>TSubstitution - coding silent
YIF1AENSG00000174851ENST00000376901p.R15Gc.43A>GSubstitution - Missense
NALCNENSG00000102452ENST00000251127p.?c.3954+5G>AUnknown
FMN2ENSG00000155816ENST00000319653p.D615Nc.1843G>ASubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.E4950Ac.14849A>CSubstitution - Missense
ENST00000376032_v68p.D122Nc.364G>ASubstitution - Missense
TEX30ENSG00000151287ENST00000376032p.D122Nc.364G>ASubstitution - Missense
CEP170ENSG00000143702ENST00000366542p.A1224Sc.3670G>TSubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.I1232Mc.3696C>GSubstitution - Missense
CELF2ENSG00000048740ENST00000379261p.T178Sc.532A>TSubstitution - Missense
WDR11ENSG00000120008ENST00000263461p.E308Kc.922G>ASubstitution - Missense
DHTKD1ENSG00000181192ENST00000263035p.D912Nc.2734G>ASubstitution - Missense
FAM204AENSG00000165669ENST00000369183p.P54Tc.160C>ASubstitution - Missense
ENSG00000205740ENST00000381466p.W39fs*35c.115delTDeletion - Frameshift
TACC2ENSG00000138162ENST00000369005p.Q2795*c.8383C>TSubstitution - Nonsense
TACC2ENSG00000138162ENST00000453444p.Q2722*c.8164C>TSubstitution - Nonsense
SYCP3ENSG00000139351ENST00000392924p.?c.454-10A>CUnknown
GNPTABENSG00000111670ENST00000299314p.L736Lc.2206C>TSubstitution - coding silent
MYBPC1ENSG00000196091ENST00000360610p.M1048fs*3c.3140_3153del14Deletion - Frameshift
SLC5A8ENSG00000256870ENST00000536262p.Y257Yc.771C>TSubstitution - coding silent
ABCD2ENSG00000173208ENST00000308666p.V474Vc.1422G>CSubstitution - coding silent
ABCD2ENSG00000173208ENST00000308666p.N161Sc.482A>GSubstitution - Missense
C12orf40ENSG00000180116ENST00000324616p.S428Cc.1283C>GSubstitution - Missense
KLRK1ENSG00000213809ENST00000240618p.S123Nc.368G>ASubstitution - Missense
MUC19ENSG00000205592ENST00000425730p.S1505Rc.4515T>GSubstitution - Missense
SLC38A1ENSG00000111371ENST00000398637p.V192Mc.574G>ASubstitution - Missense
HDAC7ENSG00000061273ENST00000080059p.L655Lc.1963C>TSubstitution - coding silent
NM_015401.1p.L616Lc.1846C>TSubstitution - coding silent
C1orf112ENSG00000000460ENST00000286031p.Q356Kc.1066C>ASubstitution - Missense
F5ENSG00000198734ENST00000367797p.E697Qc.2089G>CSubstitution - Missense
TRPC4ENSG00000133107ENST00000379705p.S32Lc.95C>TSubstitution - Missense
SLC9C2ENSG00000162753ENST00000367714p.Y233Hc.697T>CSubstitution - Missense
SLC9C2ENSG00000162753ENST00000367714p.?c.641-2A>CUnknown
KIAA0319LENSG00000142687ENST00000325722p.?c.2062+10T>GUnknown
ENST00000335883p.?c.2062+10T>GUnknown
LRRC47ENSG00000130764ENST00000378251p.L435Lc.1305G>CSubstitution - coding silent
AGO1ENSG00000092847ENST00000373204p.V68Vc.204C>TSubstitution - coding silent
OCA2ENSG00000104044ENST00000354638p.L639Lc.1917C>GSubstitution - coding silent
CHRNA7ENSG00000175344ENST00000306901p.L113Vc.337C>GSubstitution - Missense
FAN1ENSG00000198690ENST00000362065p.?c.1811+6A>GUnknown
ATP1A4ENSG00000132681ENST00000368081p.R431Qc.1292G>ASubstitution - Missense
HPS5ENSG00000110756ENST00000349215p.S429Lc.1286C>TSubstitution - Missense
ZDHHC13ENSG00000177054ENST00000446113p.S84Lc.251C>TSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.D428Nc.1282G>ASubstitution - Missense
CHD4ENSG00000111642ENST00000357008p.E911Kc.2731G>ASubstitution - Missense
CHD4ENSG00000111642ENST00000309577p.E911Kc.2731G>ASubstitution - Missense
ENST00000299218p.R1024Kc.3071G>ASubstitution - Missense
PTPRBENSG00000127329ENST00000261266p.P668Pc.2004C>TSubstitution - coding silent
PTPRBENSG00000127329ENST00000334414p.V2055fs*44c.6164delTDeletion - Frameshift
PTPRBENSG00000127329ENST00000334414p.S1876Rc.5628C>ASubstitution - Missense
NXPE1ENSG00000095110ENST00000251921p.D59Yc.175G>TSubstitution - Missense
NXPE1ENSG00000095110ENST00000251921p.S44Rc.132T>ASubstitution - Missense
TMPRSS5ENSG00000166682ENST00000299882p.?c.4-6C>TUnknown
ZW10ENSG00000086827ENST00000200135p.C259Fc.776G>TSubstitution - Missense
DOCK9ENSG00000088387ENST00000376460p.V1189Vc.3567G>ASubstitution - coding silent
ENST00000357329p.V1190Vc.3570G>ASubstitution - coding silent
DOCK9ENSG00000088387ENST00000339416p.V1190Vc.3570G>ASubstitution - coding silent
DOCK9ENSG00000088387ENST00000448493p.V1201Vc.3603G>ASubstitution - coding silent
KLF6ENSG00000067082ENST00000469435p.R208Gc.622A>GSubstitution - Missense
ENSG00000150076ENST00000302316p.S145*c.434C>GSubstitution - Nonsense
DNAH14ENSG00000185842ENST00000430092p.Q1275Kc.3823C>ASubstitution - Missense
DISP1ENSG00000154309ENST00000284476p.D906Vc.2717A>TSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366769p.?c.3453+5G>TUnknown
CDC42BPAENSG00000143776ENST00000334218p.?c.3453+5G>TUnknown
CDC42BPAENSG00000143776ENST00000366766p.?c.3558+5G>TUnknown
CDC42BPAENSG00000143776ENST00000366767p.?c.3210+5G>TUnknown
ADCK3ENSG00000163050ENST00000366779p.R182Qc.545G>ASubstitution - Missense
ITIH5ENSG00000123243ENST00000397145p.L580Lc.1740C>GSubstitution - coding silent
ITIH5ENSG00000123243ENST00000397146p.L580Lc.1740C>GSubstitution - coding silent
CAMK2GENSG00000148660ENST00000351293p.H437Hc.1311C>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000359599p.?c.4861+3C>TUnknown
TAF3ENSG00000165632ENST00000344293p.N872Kc.2616C>GSubstitution - Missense
KCNMA1ENSG00000156113ENST00000286627p.A92Pc.274G>CSubstitution - Missense
KCNMA1ENSG00000156113ENST00000406533p.A92Pc.274G>CSubstitution - Missense
WAPALENSG00000062650ENST00000298767p.E280Kc.838G>ASubstitution - Missense
NRG3ENSG00000185737ENST00000372141p.P436Sc.1306C>TSubstitution - Missense
DYDC1ENSG00000170788ENST00000372202p.Q82*c.244C>TSubstitution - Nonsense
PPP1R3CENSG00000119938ENST00000238994p.D191Yc.571G>TSubstitution - Missense
NM_000043.3p.?c.506-3C>TUnknown
IFIT1ENSG00000185745ENST00000371804p.S473Fc.1418C>TSubstitution - Missense
STAMBPL1ENSG00000138134ENST00000371924p.Q166*c.496C>TSubstitution - Nonsense
STAMBPL1ENSG00000138134ENST00000371927p.Q166*c.496C>TSubstitution - Nonsense
CCDC15ENSG00000149548ENST00000344762p.E316*c.946G>TSubstitution - Nonsense
PKNOX2ENSG00000165495ENST00000298282p.L180Ic.538C>ASubstitution - Missense
OR52M1ENSG00000197790ENST00000360213p.A245Vc.734C>TSubstitution - Missense
NUP160ENSG00000030066ENST00000378460p.E526Kc.1576G>ASubstitution - Missense
F2ENSG00000180210ENST00000311907p.T545Tc.1635T>GSubstitution - coding silent
RHBGENSG00000132677ENST00000368249p.N37Hc.109A>CSubstitution - Missense
SMG5ENSG00000198952ENST00000361813p.E340Kc.1018G>ASubstitution - Missense
CDK11BENSG00000248333ENST00000407249p.A138Vc.413C>TSubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.E2597Kc.7789G>ASubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.L318Ic.952C>ASubstitution - Missense
MYO1AENSG00000166866ENST00000300119p.R300Wc.898C>TSubstitution - Missense
NM_014903.3p.I1531Ic.4593C>ASubstitution - coding silent
RIMKLBENSG00000166532ENST00000357529p.P71Sc.211C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.E7093Kc.21277G>ASubstitution - Missense
CAPN9ENSG00000135773ENST00000354537p.A415Tc.1243G>ASubstitution - Missense
GPR137BENSG00000077585ENST00000366592p.V243Vc.729G>ASubstitution - coding silent
GPR137BENSG00000077585ENST00000366591p.V152Vc.456G>ASubstitution - coding silent
LYSTENSG00000143669ENST00000389793p.E1724Dc.5172A>CSubstitution - Missense
ZNF891ENSG00000214029ENST00000397313p.K451Nc.1353G>CSubstitution - Missense
ZNF10ENSG00000256223ENST00000248211p.E514Kc.1540G>ASubstitution - Missense
SLCO1B1ENSG00000134538ENST00000256958p.D596Hc.1786G>CSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.P2938Lc.8813C>TSubstitution - Missense
ASB8ENSG00000177981ENST00000317697p.L54Lc.162G>ASubstitution - coding silent
ACVR1BENSG00000135503ENST00000541224p.L106Fc.318G>CSubstitution - Missense
NM_020328p.L106Fc.318G>CSubstitution - Missense
AKAP13ENSG00000170776ENST00000361243p.I276Vc.826A>GSubstitution - Missense
AKAP13ENSG00000170776ENST00000394518p.I276Vc.826A>GSubstitution - Missense
NUMA1ENSG00000137497ENST00000393695p.A1025Ac.3075G>TSubstitution - coding silent
FANCIENSG00000140525ENST00000310775p.D28Nc.82G>ASubstitution - Missense
ARAP1ENSG00000186635ENST00000393609p.A1171Ac.3513C>TSubstitution - coding silent
KCTD14ENSG00000151364ENST00000353172p.R164Qc.491G>ASubstitution - Missense
ENST00000331572p.R308Tc.923G>CSubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.?c.2501-216_3281-218del6494Unknown
ENST00000368915p.?c.2501-216_3281-218del6494Unknown
NLRP10ENSG00000182261ENST00000328600p.W561Lc.1682G>TSubstitution - Missense
FAM24AENSG00000203795ENST00000368894p.?c.126-6C>AUnknown
ENST00000399313p.A653Tc.1957G>ASubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.A3624Ac.10872T>CSubstitution - coding silent
UNC119ENSG00000109103ENST00000301032p.R139Hc.416G>ASubstitution - Missense
KDRENSG00000128052ENST00000263923p.G494Ec.1481G>ASubstitution - Missense
MBNL2ENSG00000139793ENST00000345429p.A247Ac.741G>ASubstitution - coding silent
MBNL2ENSG00000139793ENST00000343600p.A247Ac.741G>ASubstitution - coding silent
NM_003582p.P472Sc.1414C>TSubstitution - Missense
DYRK3ENSG00000143479ENST00000367109p.P507Sc.1519C>TSubstitution - Missense
FAM160B1ENSG00000151553ENST00000369248p.L647Lc.1941T>GSubstitution - coding silent
FAM160B1ENSG00000151553ENST00000369250p.L647Lc.1941T>GSubstitution - coding silent
GRID1ENSG00000182771ENST00000327946p.S303Yc.908C>ASubstitution - Missense
ITGA7ENSG00000135424ENST00000553804p.D972Hc.2914G>CSubstitution - Missense
EGFLAMENSG00000164318ENST00000322350p.R368Qc.1103G>ASubstitution - Missense
CCDC33ENSG00000140481ENST00000398814p.E425Kc.1273G>ASubstitution - Missense
TMPRSS13ENSG00000137747ENST00000524993p.D212Dc.636C>TSubstitution - coding silent
TENM4ENSG00000149256ENST00000278550p.L1588Lc.4762C>TSubstitution - coding silent
ADAMTS6ENSG00000049192ENST00000381055p.D351Nc.1051G>ASubstitution - Missense
NRG3ENSG00000185737ENST00000372141p.S579Lc.1736C>TSubstitution - Missense
CELA2BENSG00000215704ENST00000375910p.V157Ic.469G>ASubstitution - Missense
GET4ENSG00000239857ENST00000265857p.Q79*c.235C>TSubstitution - Nonsense
NAALAD2ENSG00000077616ENST00000534061p.S565Fc.1694C>TSubstitution - Missense
DIP2AENSG00000160305ENST00000417564p.Y582Yc.1746C>TSubstitution - coding silent
CYP27C1ENSG00000186684ENST00000335247p.R321Qc.962G>ASubstitution - Missense
NLRP11ENSG00000179873ENST00000443188p.S6Yc.17C>ASubstitution - Missense
CDHR2ENSG00000074276ENST00000261944p.A198Tc.592G>ASubstitution - Missense
NM_020871.2p.R646Qc.1937G>ASubstitution - Missense
PCSK5ENSG00000099139ENST00000545128p.R243*c.727C>TSubstitution - Nonsense
PCSK5ENSG00000099139ENST00000376752p.R243*c.727C>TSubstitution - Nonsense
OR5C1ENSG00000148215ENST00000373680p.S141Lc.422C>TSubstitution - Missense
DIP2AENSG00000160305ENST00000427143p.Y518Yc.1554C>TSubstitution - coding silent
ENST00000325084p.A876Vc.2627C>TSubstitution - Missense
CACNA1AENSG00000141837ENST00000360228p.A875Vc.2624C>TSubstitution - Missense
TRMT6ENSG00000089195ENST00000203001p.M321Vc.961A>GSubstitution - Missense
ATP11CENSG00000101974ENST00000361648p.L921Lc.2761T>CSubstitution - coding silent
SLC27A1ENSG00000130304ENST00000252595p.R612Cc.1834C>TSubstitution - Missense
SLC27A1ENSG00000130304ENST00000442725p.R612Cc.1834C>TSubstitution - Missense
MICU2ENSG00000165487ENST00000382374p.R237Cc.709C>TSubstitution - Missense
LHCGRENSG00000138039ENST00000294954p.M582Vc.1744A>GSubstitution - Missense
KCNQ3ENSG00000184156ENST00000388996p.Y710Hc.2128T>CSubstitution - Missense
NM_002203.2p.M109Ic.327G>ASubstitution - Missense
ONECUT1ENSG00000169856ENST00000305901p.V242Ac.725T>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P2498Sc.7492C>TSubstitution - Missense
ENST00000405167p.P2498Sc.7492C>TSubstitution - Missense
TMPRSS13ENSG00000137747ENST00000445164p.D212Dc.636C>TSubstitution - coding silent
ITGB6ENSG00000115221ENST00000283249p.R259Qc.776G>ASubstitution - Missense
LYPLAL1ENSG00000143353ENST00000366928p.A17Vc.50C>TSubstitution - Missense
ITIH5ENSG00000123243ENST00000397146p.R424Qc.1271G>ASubstitution - Missense
DYRK3ENSG00000143479ENST00000367106p.P487Sc.1459C>TSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.P4734Pc.14202A>GSubstitution - coding silent
OR10A7ENSG00000179919ENST00000326258p.S139Pc.415T>CSubstitution - Missense
KBTBD7ENSG00000120696ENST00000379483p.L311Lc.931C>TSubstitution - coding silent
NAA16ENSG00000172766ENST00000379406p.Q142*c.424C>TSubstitution - Nonsense
NM_005830.2p.P153Sc.457C>TSubstitution - Missense
LINGO1ENSG00000169783ENST00000355300p.V571Vc.1713C>TSubstitution - coding silent
ISL2ENSG00000159556ENST00000290759p.R41Rc.121C>ASubstitution - coding silent
KIAA0226LENSG00000102445ENST00000429979p.D21Nc.61G>ASubstitution - Missense
TSC22D1ENSG00000102804ENST00000458659p.G213Gc.639G>CSubstitution - coding silent
ENST00000358674p.N305Nc.915T>CSubstitution - coding silent
PCDH9ENSG00000184226ENST00000377865p.I830Ic.2490C>ASubstitution - coding silent
ATP2A2ENSG00000174437ENST00000539276p.I696Sc.2087T>GSubstitution - Missense
ATP2A2ENSG00000174437ENST00000539276p.N809Sc.2426A>GSubstitution - Missense
ABCC4ENSG00000125257ENST00000376887p.H1111Hc.3333C>TSubstitution - coding silent
ABCC4ENSG00000125257ENST00000376887p.H1111Hc.3333C>TSubstitution - coding silent
SLITRK6ENSG00000184564ENST00000400286p.Y273Nc.817T>ASubstitution - Missense


COSMIC

0 mutations reported
0 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID