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HT - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

3490 mutations reported
1086 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
BOD1L1ENSG00000038219ENST00000040738p.E550Dc.1650A>CSubstitution - Missense
SLC4A5ENSG00000188687ENST00000377634p.R768Rc.2304C>ASubstitution - coding silent
KCNN2ENSG00000080709ENST00000264773p.P310Pc.930A>TSubstitution - coding silent
CDCA7LENSG00000164649ENST00000406877p.N224Nc.672C>TSubstitution - coding silent
HOXA11ENSG00000005073ENST00000006015p.E259Ac.776A>CSubstitution - Missense
SYNPO2ENSG00000172403ENST00000307142p.R400Rc.1200A>GSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.F4445Vc.13333T>GSubstitution - Missense
TREM2ENSG00000095970ENST00000373122p.G90Gc.270T>CSubstitution - coding silent
MOGAT3ENSG00000106384ENST00000379423p.W67Rc.199T>CSubstitution - Missense
FKRPENSG00000181027ENST00000318584p.L16Pc.47T>CSubstitution - Missense
SNAPC3ENSG00000164975ENST00000380821p.H162Rc.485A>GSubstitution - Missense
ANAPC2ENSG00000176248ENST00000323927p.?c.2256+8T>CUnknown
CRLF1ENSG00000006016ENST00000392386p.C195Cc.585C>TSubstitution - coding silent
ARHGAP28ENSG00000088756ENST00000400091p.N528Tc.1583A>CSubstitution - Missense
SEMA5AENSG00000112902ENST00000382496p.C650Cc.1950T>CSubstitution - coding silent
CDH7ENSG00000081138ENST00000323011p.?c.1613-4C>AUnknown
H2AFYENSG00000113648ENST00000312469p.K148Ic.443A>TSubstitution - Missense
SBF1ENSG00000100241ENST00000390679p.T939Mc.2816C>TSubstitution - Missense
UFSP2ENSG00000109775ENST00000264689p.Y260Hc.778T>CSubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.G3113Gc.9339C>TSubstitution - coding silent
RELL2ENSG00000164620ENST00000297164p.G270Cc.808G>TSubstitution - Missense
COL5A1ENSG00000130635ENST00000371817p.V248Vc.744A>GSubstitution - coding silent
CLINT1ENSG00000113282ENST00000523094p.R440Rc.1318A>CSubstitution - coding silent
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
OGDHENSG00000105953ENST00000543843p.G147Gc.441A>GSubstitution - coding silent
MYO10ENSG00000145555ENST00000274203p.N1826Tc.5477A>CSubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.L687Rc.2060T>GSubstitution - Missense
XM_375550.2p.A579Ac.1737C>TSubstitution - coding silent
TMEM14AENSG00000096092ENST00000211314p.G81Gc.243T>CSubstitution - coding silent
PALB2ENSG00000083093ENST00000261584p.A590Vc.1769C>TSubstitution - Missense
PLVAPENSG00000130300ENST00000252590p.Y23Hc.67T>CSubstitution - Missense
ARHGEF1ENSG00000076928ENST00000337665p.A287Tc.859G>ASubstitution - Missense
PTRH1ENSG00000187024ENST00000419060p.S14Sc.42T>CSubstitution - coding silent
SPTAN1ENSG00000197694ENST00000372731p.F2460Lc.7378T>CSubstitution - Missense
ZSWIM6ENSG00000130449ENST00000252744p.H1039Pc.3116A>CSubstitution - Missense
EXOC3ENSG00000180104ENST00000315013p.A695Vc.2084C>TSubstitution - Missense
TAP1ENSG00000168394ENST00000354258p.Y541Cc.1622A>GSubstitution - Missense
ALG3ENSG00000214160ENST00000445626p.A167Tc.499G>ASubstitution - Missense
ENST00000255326p.K105Rc.314A>GSubstitution - Missense
RAI1ENSG00000108557ENST00000261641p.L998Lc.2994A>GSubstitution - coding silent
KIAA1109ENSG00000138688ENST00000455637p.L1591fs*3c.4762_4763insAInsertion - Frameshift
KIAA1598ENSG00000187164ENST00000392903p.T537fs*3c.1607_1608insCInsertion - Frameshift
CCDC66ENSG00000180376ENST00000436465p.V213Vc.639C>TSubstitution - coding silent
GCKENSG00000106633ENST00000395796p.V206Ec.617T>ASubstitution - Missense
AGLENSG00000162688ENST00000370163p.W1520Rc.4558T>CSubstitution - Missense
HECTD4ENSG00000173064ENST00000377560p.T2742Mc.8225C>TSubstitution - Missense
USP54ENSG00000166348ENST00000408019p.P544fs*3c.1623_1624insAInsertion - Frameshift
SLC39A5ENSG00000139540ENST00000266980p.Q163Rc.488A>GSubstitution - Missense
SH2D4BENSG00000178217ENST00000339284p.P91Pc.273C>ASubstitution - coding silent
SLC35F3ENSG00000183780ENST00000366618p.G435Cc.1303G>TSubstitution - Missense
OR51S1ENSG00000176922ENST00000322101p.Y43Cc.128A>GSubstitution - Missense
MMP21ENSG00000154485ENST00000368808p.D457Gc.1370A>GSubstitution - Missense
KIF7ENSG00000166813ENST00000394412p.W545Rc.1633T>CSubstitution - Missense
ERC1ENSG00000082805ENST00000397203p.Y987Yc.2961C>TSubstitution - coding silent
TMBIM6ENSG00000139644ENST00000423828p.N67Sc.200A>GSubstitution - Missense
FAM160B1ENSG00000151553ENST00000369248p.T563fs*7c.1683delADeletion - Frameshift
PPP6R3ENSG00000110075ENST00000393801p.?c.1278+2T>CUnknown
NM_005484.2p.N138Nc.414T>CSubstitution - coding silent
ACIN1ENSG00000100813ENST00000262710p.?c.2482+9A>GUnknown
MTMR2ENSG00000087053ENST00000352297p.?c.354+1_355-1del895Unknown
RNF6ENSG00000127870ENST00000346166p.A39Vc.116C>TSubstitution - Missense
NM_005056.1p.S156Pc.466T>CSubstitution - Missense
NDNENSG00000182636ENST00000331837p.A69Tc.205G>ASubstitution - Missense
PBX1ENSG00000185630ENST00000420696p.S325Sc.975G>CSubstitution - coding silent
NR1I3ENSG00000143257ENST00000428574p.A230Tc.688G>ASubstitution - Missense
PLEKHA7ENSG00000166689ENST00000355661p.C1121*c.3363T>ASubstitution - Nonsense
TINAGL1ENSG00000142910ENST00000271064p.?c.468-2A>GUnknown
CSMD2ENSG00000121904ENST00000241312p.F2058Sc.6173T>CSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.F2098Sc.6293T>CSubstitution - Missense
XPNPEP1ENSG00000108039ENST00000502935p.Y569Hc.1705T>CSubstitution - Missense
TNFRSF1BENSG00000028137ENST00000376259p.Q317Pc.950A>CSubstitution - Missense
MRPS16ENSG00000182180ENST00000372945p.L83Lc.249C>TSubstitution - coding silent
RCOR2ENSG00000167771ENST00000301459p.E323fs*14c.965_966insCInsertion - Frameshift
AKR1CL1ENSG00000196326ENST00000473890p.P53Pc.159A>GSubstitution - coding silent
CACNA1HENSG00000196557ENST00000358590p.Q2324Qc.6972G>ASubstitution - coding silent
PRKG1ENSG00000185532ENST00000373980p.E352Dc.1056A>CSubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.A135Vc.404C>TSubstitution - Missense
APOC3ENSG00000110245ENST00000227667p.Y73Hc.217T>CSubstitution - Missense
BUD13ENSG00000137656ENST00000260210p.T255Sc.763A>TSubstitution - Missense
NCAM1ENSG00000149294ENST00000401611p.W546*c.1638G>ASubstitution - Nonsense
NOX4ENSG00000086991ENST00000263317p.F261Lc.781T>CSubstitution - Missense
SPTBENSG00000070182ENST00000389722p.A700Vc.2099C>TSubstitution - Missense
SAMD4AENSG00000020577ENST00000357634p.S291Pc.871T>CSubstitution - Missense
VAT1LENSG00000171724ENST00000302536p.S317fs*3c.946delTDeletion - Frameshift
GPATCH3ENSG00000198746ENST00000361720p.D241Vc.722A>TSubstitution - Missense
NOX5ENSG00000255346ENST00000260364p.T276Sc.827C>GSubstitution - Missense
COL4A1ENSG00000187498ENST00000375820p.L1447Pc.4340T>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.E3132Dc.9396A>CSubstitution - Missense
MSL3ENSG00000005302ENST00000312196p.V29Ac.86T>CSubstitution - Missense
SLC13A1ENSG00000081800ENST00000194130p.A45Tc.133G>ASubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.K479Nc.1437A>CSubstitution - Missense
SIGLEC1ENSG00000088827ENST00000344754p.R929Rc.2787T>CSubstitution - coding silent
C20orf196ENSG00000171984ENST00000378979p.C24Gc.70T>GSubstitution - Missense
MCM8ENSG00000125885ENST00000378896p.K101fs*15c.299delADeletion - Frameshift
SOGA1ENSG00000149639ENST00000237536p.L656Rc.1967T>GSubstitution - Missense
RFT1ENSG00000163933ENST00000296292p.L337Pc.1010T>CSubstitution - Missense
ADRA1AENSG00000120907ENST00000380581p.P293Sc.877C>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.A1252Ac.3756C>TSubstitution - coding silent
ENST00000420871_v68p.E832Gc.2495A>GSubstitution - Missense
ALOX15BENSG00000179593ENST00000380183p.D666Gc.1997A>GSubstitution - Missense
HEXDCENSG00000169660ENST00000337014p.?c.282+4A>GUnknown
SDAD1ENSG00000198301ENST00000356260p.V160Ac.479T>CSubstitution - Missense
NM_001702.1p.T890Pc.2668A>CSubstitution - Missense
ENST00000407686p.V163Ac.488T>CSubstitution - Missense
GPRIN3ENSG00000185477ENST00000333209p.Q380fs*61c.1138delCDeletion - Frameshift
CASKIN2ENSG00000177303ENST00000321617p.T17Tc.51C>TSubstitution - coding silent
NM_021140.1p.R1111Cc.3331C>TSubstitution - Missense
XM_498354.1p.Y426Cc.1277A>GSubstitution - Missense
PON2ENSG00000105854ENST00000222572p.N122Dc.364A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.P20382Sc.61144C>TSubstitution - Missense
ENST00000356127p.P20380Sc.61138C>TSubstitution - Missense
NFKBIZENSG00000144802ENST00000326172p.S170Sc.510G>ASubstitution - coding silent
ZCCHC14ENSG00000140948ENST00000268616p.?c.1192+2T>CUnknown
BOLLENSG00000152430ENST00000321801p.S66Pc.196T>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.L1926Ic.5776C>ASubstitution - Missense
ENSG00000176593ENST00000313957p.A311Vc.932C>TSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.L1226fs*31c.3674delTDeletion - Frameshift
AP1ARENSG00000138660ENST00000274000p.S171Sc.513T>CSubstitution - coding silent
DPEP2ENSG00000167261ENST00000393847p.L109Qc.326T>ASubstitution - Missense
ANAPC1ENSG00000153107ENST00000341068p.T291Pc.871A>CSubstitution - Missense
PLGENSG00000122194ENST00000308192p.T545Ac.1633A>GSubstitution - Missense
USP53ENSG00000145390ENST00000274030p.?c.972+10A>GUnknown
ENST00000272666p.A162Ac.486T>GSubstitution - coding silent
DMDENSG00000198947ENST00000357033p.V1731Ac.5192T>CSubstitution - Missense
GUSBENSG00000169919ENST00000304895p.D355Gc.1064A>GSubstitution - Missense
PELI1ENSG00000197329ENST00000358912p.T264Ac.790A>GSubstitution - Missense
COPG1ENSG00000181789ENST00000314797p.E412Ec.1236G>ASubstitution - coding silent
CELSR1ENSG00000075275ENST00000262738p.Y2904Cc.8711A>GSubstitution - Missense
SLC9C1ENSG00000172139ENST00000305815p.N479Tc.1436A>CSubstitution - Missense
CDH7ENSG00000081138ENST00000323011p.?c.1613-4C>AUnknown
FAT1ENSG00000083857ENST00000441802p.G3483Gc.10449A>GSubstitution - coding silent
CEP78ENSG00000148019ENST00000277082p.S444Gc.1330A>GSubstitution - Missense
ZNF568ENSG00000198453ENST00000455427p.K338Kc.1014A>GSubstitution - coding silent
HMG20BENSG00000064961ENST00000333651p.D294Gc.881A>GSubstitution - Missense
DAPK1ENSG00000196730ENST00000358077p.T612Tc.1836G>ASubstitution - coding silent
SAMD3ENSG00000164483ENST00000368134p.L494Pc.1481T>CSubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
PPP1R18ENSG00000146112ENST00000399199p.L413Pc.1238T>CSubstitution - Missense
PKD1L1ENSG00000158683ENST00000289672p.K1555Kc.4665A>GSubstitution - coding silent
ADCYAP1R1ENSG00000078549ENST00000304166p.R431Rc.1293A>CSubstitution - coding silent
ATXN7L1ENSG00000146776ENST00000388807p.D297Dc.891C>TSubstitution - coding silent
SLC5A11ENSG00000158865ENST00000347898p.T602Tc.1806G>ASubstitution - coding silent
PSG6ENSG00000170848ENST00000187910p.R312Qc.935G>ASubstitution - Missense
STAP1ENSG00000035720ENST00000396225p.V244Ac.731T>CSubstitution - Missense
POLR2BENSG00000047315ENST00000381227p.C572Rc.1714T>CSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.Y1901Hc.5701T>CSubstitution - Missense
TCTE1ENSG00000146221ENST00000371505p.N340Sc.1019A>GSubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.G794Gc.2382T>GSubstitution - coding silent
ORM1ENSG00000229314ENST00000259396p.S11Rc.31A>CSubstitution - Missense
PHF20L1ENSG00000129292ENST00000220847p.T933Ac.2797A>GSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.R273Hc.818G>ASubstitution - Missense
TP53ENSG00000141510ENST00000420246p.V216Mc.646G>ASubstitution - Missense
NFYCENSG00000066136ENST00000425457p.K124Nc.372A>CSubstitution - Missense
TIE1ENSG00000066056ENST00000538015p.G280Gc.840C>TSubstitution - coding silent
UBAP2LENSG00000143569ENST00000271877p.S367Rc.1099A>CSubstitution - Missense
ADARENSG00000160710ENST00000292205p.V850Vc.2550A>TSubstitution - coding silent
CLCNKBENSG00000184908ENST00000375667p.L218Lc.654G>TSubstitution - coding silent
MCF2LENSG00000126217ENST00000434480p.F159Lc.475T>CSubstitution - Missense
KCTD15ENSG00000153885ENST00000430256p.H16Hc.48C>TSubstitution - coding silent
SEMA4BENSG00000185033ENST00000379122p.V290Ec.869T>ASubstitution - Missense
AGBL1ENSG00000166748ENST00000389298p.H406Pc.1217A>CSubstitution - Missense
DZANK1ENSG00000089091ENST00000329494p.G592Rc.1774G>ASubstitution - Missense
HRH3ENSG00000101180ENST00000317393p.W371Rc.1111T>CSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.S1149Pc.3445T>CSubstitution - Missense
BAI3ENSG00000135298ENST00000238918p.N668Tc.2003A>CSubstitution - Missense
ENST00000378024_v70p.S5077Sc.15231G>ASubstitution - coding silent
FBXL17ENSG00000145743ENST00000496714p.R216*c.646C>TSubstitution - Nonsense
PEG3ENSG00000198300ENST00000326441p.R393Cc.1177C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.V216Mc.646G>ASubstitution - Missense
SIM1ENSG00000112246ENST00000262901p.G448Cc.1342G>TSubstitution - Missense
CTNNA3ENSG00000183230ENST00000433211p.T454Pc.1360A>CSubstitution - Missense
LEF1ENSG00000138795ENST00000265165p.P302Lc.905C>TSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.P301Tc.901C>ASubstitution - Missense
PPM1KENSG00000163644ENST00000315194p.K85Tc.254A>CSubstitution - Missense
NTRK2ENSG00000148053ENST00000395882p.G195Gc.585T>GSubstitution - coding silent
IQGAP1ENSG00000140575ENST00000268182p.R438Qc.1313G>ASubstitution - Missense
WDR65ENSG00000243710ENST00000528956p.D327Gc.980A>GSubstitution - Missense
NM_013266.1p.N816Sc.2447A>GSubstitution - Missense
USP1ENSG00000162607ENST00000371146p.N662fs*2c.1978delADeletion - Frameshift
INTS7ENSG00000143493ENST00000366994p.S109fs*2c.325delTDeletion - Frameshift
PREPENSG00000085377ENST00000369110p.G459fs*2c.1374delADeletion - Frameshift
DZIP1ENSG00000134874ENST00000361396p.T144Pc.430A>CSubstitution - Missense
TMEM116ENSG00000198270ENST00000354825p.T38Tc.114A>CSubstitution - coding silent
DACH1ENSG00000165659ENST00000305425p.L605fs*1c.1814delTDeletion - Frameshift
KIF11ENSG00000138160ENST00000260731p.P137Pc.411A>GSubstitution - coding silent
SNUPNENSG00000169371ENST00000308588p.P291Pc.873G>ASubstitution - coding silent
PEAK1ENSG00000173517ENST00000312493p.E155Gc.464A>GSubstitution - Missense
SRGAP2ENSG00000163486ENST00000414007p.?c.1136-8A>GUnknown
PPM1HENSG00000111110ENST00000228705p.I273Vc.817A>GSubstitution - Missense
NMBENSG00000197696ENST00000394588p.A106Ac.318A>GSubstitution - coding silent
TEX30ENSG00000151287ENST00000376021p.N150Dc.448A>GSubstitution - Missense
PACS2ENSG00000179364ENST00000325438p.S327Wc.980C>GSubstitution - Missense
ZNF496ENSG00000162714ENST00000294753p.A387fs*68c.1158delCDeletion - Frameshift
PPP6R3ENSG00000110075ENST00000265636p.?c.1125+2T>CUnknown
ENSG00000258465ENST00000556710p.S734Sc.2202A>GSubstitution - coding silent
XPNPEP1ENSG00000108039ENST00000502935p.R201Rc.603T>GSubstitution - coding silent
KRTAP5-1ENSG00000205869ENST00000382171p.S232Sc.696A>GSubstitution - coding silent
CLCNKBENSG00000184908ENST00000375679p.H357Qc.1071T>ASubstitution - Missense
PDE3BENSG00000152270ENST00000282096p.K546Rc.1637A>GSubstitution - Missense
FAN1ENSG00000198690ENST00000362065p.D614Gc.1841A>GSubstitution - Missense
NR1I3ENSG00000143257ENST00000367981p.A201Tc.601G>ASubstitution - Missense
WDFY4ENSG00000128815ENST00000360890p.L366Pc.1097T>CSubstitution - Missense
RFC5ENSG00000111445ENST00000454402p.?c.871+4A>GUnknown
SIRT4ENSG00000089163ENST00000202967p.L199Pc.596T>CSubstitution - Missense
PHGDHENSG00000092621ENST00000369409p.?c.510+10T>CUnknown
GPR139ENSG00000180269ENST00000570682p.*354*c.1061G>ASubstitution - coding silent
DCDC1ENSG00000170959ENST00000339794p.C190Cc.570T>CSubstitution - coding silent
TEKT5ENSG00000153060ENST00000283025p.V291Ic.871G>ASubstitution - Missense
PROX2ENSG00000119608ENST00000445876p.I584Tc.1751T>CSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.L2322Pc.6965T>CSubstitution - Missense
NCAM1ENSG00000149294ENST00000316851p.M743Vc.2227A>GSubstitution - Missense
TTC12ENSG00000149292ENST00000529221p.L45Lc.135A>GSubstitution - coding silent
CELSR2ENSG00000143126ENST00000271332p.A532Ac.1596T>CSubstitution - coding silent
YY1AP1ENSG00000163374ENST00000368339p.Q724Ec.2170C>GSubstitution - Missense
PLA2G2CENSG00000187980ENST00000247992p.F76Vc.226T>GSubstitution - Missense
LEMD1ENSG00000186007ENST00000367154p.S44Sc.132A>CSubstitution - coding silent
SPG11ENSG00000104133ENST00000261866p.S1074Sc.3222T>CSubstitution - coding silent
HSP90AA1ENSG00000080824ENST00000334701p.P839Pc.2517A>GSubstitution - coding silent
HERC1ENSG00000103657ENST00000443617p.G704Cc.2110G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.Y3901Cc.11702A>GSubstitution - Missense
ENST00000356127p.Y3901Cc.11702A>GSubstitution - Missense
ENST00000448396p.?c.999+3A>GUnknown
TNRC6CENSG00000078687ENST00000335749p.D733fs*10c.2192delGDeletion - Frameshift
TNRC6CENSG00000078687ENST00000335749p.T1420Ac.4258A>GSubstitution - Missense
ENST00000418100_v65p.R317Rc.951A>GSubstitution - coding silent
FAM160B2ENSG00000158863ENST00000289921p.H125Hc.375T>CSubstitution - coding silent
ADRA1AENSG00000120907ENST00000354550p.P293Sc.877C>TSubstitution - Missense
LINGO2ENSG00000174482ENST00000379992p.Y581Cc.1742A>GSubstitution - Missense
DLGAP1ENSG00000170579ENST00000534970p.V423Ac.1268T>CSubstitution - Missense
NM_015461.1p.N411Kc.1233C>ASubstitution - Missense
CCDC180ENSG00000197816ENST00000375202p.Q345Qc.1035A>GSubstitution - coding silent
RASSF6ENSG00000169435ENST00000307439p.E156Gc.467A>GSubstitution - Missense
COL18A1ENSG00000182871ENST00000359759p.N129Dc.385A>GSubstitution - Missense
TLR9ENSG00000239732ENST00000360658p.D551Gc.1652A>GSubstitution - Missense
NEDD4LENSG00000049759ENST00000400345p.L764Rc.2291T>GSubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.F468fs*52c.1400delTDeletion - Frameshift
CD164L2ENSG00000174950ENST00000374025p.Q51Qc.153A>GSubstitution - coding silent
ANKEF1ENSG00000132623ENST00000378392p.E195Dc.585A>CSubstitution - Missense
ITGB3ENSG00000259207ENST00000435993p.S126Sc.378T>CSubstitution - coding silent
FBXW10ENSG00000171931ENST00000395667p.H823Rc.2468A>GSubstitution - Missense
TUBB4AENSG00000104833ENST00000264071p.A315Vc.944C>TSubstitution - Missense
FANCCENSG00000158169ENST00000289081p.?c.1329+10A>GUnknown
AHCYENSG00000101444ENST00000217426p.T84Ac.250A>GSubstitution - Missense
KIAA1755ENSG00000149633ENST00000279024p.N406Tc.1217A>CSubstitution - Missense
CCDC66ENSG00000180376ENST00000394672p.V213Vc.639C>TSubstitution - coding silent
NM_025134.3p.T59Tc.177T>CSubstitution - coding silent
SRGAP3ENSG00000196220ENST00000383836p.F847Vc.2539T>GSubstitution - Missense
C17orf85ENSG00000074356ENST00000389005p.E428Ec.1284A>GSubstitution - coding silent
SYT4ENSG00000132872ENST00000255224p.T231Ac.691A>GSubstitution - Missense
DACT2ENSG00000164488ENST00000366795p.G545Gc.1635G>CSubstitution - coding silent
EPS8L1ENSG00000131037ENST00000245618p.A578Tc.1732G>ASubstitution - Missense
PLECENSG00000178209ENST00000345136p.H55Rc.164A>GSubstitution - Missense
CASP8ENSG00000064012ENST00000264275p.?c.853+7T>CUnknown
BIRC6ENSG00000115760ENST00000421745p.?c.4238+2T>CUnknown
RTEL1ENSG00000258366ENST00000508582p.?c.549+2T>CUnknown
TET2ENSG00000168769ENST00000305737p.S1162fs*>4c.3481delTDeletion - Frameshift
COG1ENSG00000166685ENST00000299886p.H866Rc.2597A>GSubstitution - Missense
SLC13A5ENSG00000141485ENST00000433363p.V231Ac.692T>CSubstitution - Missense
FGFR1ENSG00000077782ENST00000447712p.?c.937-3T>AUnknown
ARHGAP24ENSG00000138639ENST00000395184p.S727fs*6c.2173delTDeletion - Frameshift
SYTL5ENSG00000147041ENST00000297875p.?c.962-9A>GUnknown
SHANK3ENSG00000251322ENST00000262795p.L394Lc.1180C>TSubstitution - coding silent
PARK2ENSG00000185345ENST00000366898p.G77fs*4c.228delADeletion - Frameshift
SCLT1ENSG00000151466ENST00000281142p.T145Tc.435T>CSubstitution - coding silent
WBP1ENSG00000239779ENST00000233615p.H185fs*5c.548_549insCInsertion - Frameshift
PCLOENSG00000186472ENST00000333891p.P301Tc.901C>ASubstitution - Missense
CACNA2D1ENSG00000153956ENST00000356860p.F674Sc.2021T>CSubstitution - Missense
ZNF273ENSG00000198039ENST00000476120p.K288Nc.864A>CSubstitution - Missense
UROC1ENSG00000159650ENST00000383579p.K365Ec.1093A>GSubstitution - Missense
UROC1ENSG00000159650ENST00000290868p.K305Ec.913A>GSubstitution - Missense
UROC1ENSG00000159650ENST00000290868p.M180Ic.540G>ASubstitution - Missense
HSPBAP1ENSG00000169087ENST00000306103p.S244Rc.730A>CSubstitution - Missense
SH2B1ENSG00000178188ENST00000337120p.E583Dc.1749G>TSubstitution - Missense
MYH9ENSG00000100345ENST00000216181p.F607Lc.1819T>CSubstitution - Missense
NFATC1ENSG00000131196ENST00000329101p.S890Gc.2668A>GSubstitution - Missense
RAVER1ENSG00000161847ENST00000293677p.S371Sc.1113T>CSubstitution - coding silent
H2AFYENSG00000113648ENST00000511689p.K148Ic.443A>TSubstitution - Missense
DCLK2ENSG00000170390ENST00000296550p.V523Gc.1568T>GSubstitution - Missense
BAATENSG00000136881ENST00000259407p.V96Ac.287T>CSubstitution - Missense
KIAA0408ENSG00000189367ENST00000483725p.F132Vc.394T>GSubstitution - Missense
C9orf9ENSG00000165698ENST00000350499p.Y134Yc.402C>TSubstitution - coding silent
TTF1ENSG00000125482ENST00000334270p.Q497Pc.1490A>CSubstitution - Missense
SPATA31E1ENSG00000177992ENST00000325643p.C958fs*45c.2866_2867insGInsertion - Frameshift
SEPT4ENSG00000108387ENST00000317268p.L333Sc.998T>CSubstitution - Missense
DDX39BENSG00000198563ENST00000396172p.E134Gc.401A>GSubstitution - Missense
MAS1LENSG00000204687ENST00000377127p.A82Tc.244G>ASubstitution - Missense
ENST00000342288p.?c.4126+7G>AUnknown
MYCNENSG00000134323ENST00000281043p.E445Gc.1334A>GSubstitution - Missense
ZSWIM1ENSG00000168612ENST00000372523p.N289Sc.866A>GSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.T179Tc.537A>GSubstitution - coding silent
PCIF1ENSG00000100982ENST00000372409p.R603Cc.1807C>TSubstitution - Missense
FAM196BENSG00000204767ENST00000377365p.L404Pc.1211T>CSubstitution - Missense
TDRD6ENSG00000180113ENST00000316081p.V180Ac.539T>CSubstitution - Missense
ICKENSG00000112144ENST00000350082p.G217Vc.650G>TSubstitution - Missense
ABL1ENSG00000097007ENST00000318560p.H552Rc.1655A>GSubstitution - Missense
WWC1ENSG00000113645ENST00000265293p.?c.3276-7C>GUnknown
ENST00000454161p.L375Pc.1124T>CSubstitution - Missense
PTCHD2ENSG00000204624ENST00000389575p.V1336Ac.4007T>CSubstitution - Missense
UBE4BENSG00000130939ENST00000377157p.K23Kc.69G>ASubstitution - coding silent
SREBF1ENSG00000072310ENST00000338854p.N329Nc.987C>TSubstitution - coding silent
NTRK2ENSG00000148053ENST00000304053p.G195Gc.585T>GSubstitution - coding silent
MATKENSG00000007264ENST00000395045p.L313Pc.938T>CSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
PCDHA3ENSG00000255408ENST00000522353p.D111Gc.332A>GSubstitution - Missense
LAMB4ENSG00000091128ENST00000205386p.H811Yc.2431C>TSubstitution - Missense
ENST00000342288p.D1748Gc.5243A>GSubstitution - Missense
AP5S1ENSG00000125843ENST00000379567p.D184Ac.551A>CSubstitution - Missense
HIC2ENSG00000169635ENST00000407464p.S280Sc.840G>ASubstitution - coding silent
ABCA3ENSG00000167972ENST00000301732p.Y206Hc.616T>CSubstitution - Missense
ARHGEF1ENSG00000076928ENST00000337665p.?c.1783+2T>CUnknown
TMIGD2ENSG00000167664ENST00000301272p.W52Rc.154T>CSubstitution - Missense
NAF1ENSG00000145414ENST00000274054p.T78Tc.234C>GSubstitution - coding silent
SPTAN1ENSG00000197694ENST00000372739p.F2465Lc.7393T>CSubstitution - Missense
ENST00000337072p.V789Gc.2366T>GSubstitution - Missense
LPHN2ENSG00000117114ENST00000370721p.N1110Sc.3329A>GSubstitution - Missense
LPHN2ENSG00000117114ENST00000449420p.N1077Dc.3229A>GSubstitution - Missense
CACNA1EENSG00000198216ENST00000367567p.M130Vc.388A>GSubstitution - Missense
DGKHENSG00000102780ENST00000379274p.?c.1504+8T>CUnknown
USP54ENSG00000166348ENST00000319786p.P544fs*3c.1623_1624insAInsertion - Frameshift
ITGAVENSG00000138448ENST00000433736p.?c.1368-7T>CUnknown
ABCA12ENSG00000144452ENST00000389661p.T617Pc.1849A>CSubstitution - Missense
TGIF1ENSG00000177426ENST00000548489p.S205Sc.615G>TSubstitution - coding silent
INPP4AENSG00000040933ENST00000545415p.L873Pc.2618T>CSubstitution - Missense
KANSL3ENSG00000114982ENST00000440133p.D449Gc.1346A>GSubstitution - Missense
CLTCL1ENSG00000070371ENST00000427926p.A1095Tc.3283G>ASubstitution - Missense
PLECENSG00000178209ENST00000356346p.H41Rc.122A>GSubstitution - Missense
DOCK4ENSG00000128512ENST00000494651p.D634Gc.1901A>GSubstitution - Missense
PTPRKENSG00000152894ENST00000368227p.D1019Dc.3057T>CSubstitution - coding silent
MYO10ENSG00000145555ENST00000513610p.T164Pc.490A>CSubstitution - Missense
TTKENSG00000112742ENST00000369798p.K857fs?c.2565delADeletion - Frameshift
ADRA1AENSG00000120907ENST00000358857p.P293Sc.877C>TSubstitution - Missense
FAM212BENSG00000197852ENST00000357260p.A117Tc.349G>ASubstitution - Missense
UNC5DENSG00000156687ENST00000287272p.Q725Hc.2175A>TSubstitution - Missense
ENST00000426433p.?c.432+9A>CUnknown
SFTPA1ENSG00000122852ENST00000419470p.L204Pc.611T>CSubstitution - Missense
KRT79ENSG00000185640ENST00000330553p.Y259Fc.776A>TSubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.V1016Ic.3046G>ASubstitution - Missense
MARCH9ENSG00000139266ENST00000548358p.L89Lc.267C>TSubstitution - coding silent
CD163ENSG00000177575ENST00000359156p.D249Gc.746A>GSubstitution - Missense
SMG5ENSG00000198952ENST00000361813p.I883Tc.2648T>CSubstitution - Missense
DDX51ENSG00000185163ENST00000397333p.V286Ac.857T>CSubstitution - Missense
CAPN9ENSG00000135773ENST00000271971p.?c.2046+8C>TUnknown
POLEENSG00000177084ENST00000320574p.Y766Cc.2297A>GSubstitution - Missense
TM9SF1ENSG00000100926ENST00000261789p.G50Gc.150A>GSubstitution - coding silent
SEPHS1ENSG00000086475ENST00000327347p.K369Nc.1107A>CSubstitution - Missense
UPF2ENSG00000151461ENST00000356352p.G456Gc.1368T>CSubstitution - coding silent
SPENENSG00000065526ENST00000375759p.K1213fs*64c.3637delADeletion - Frameshift
NCSTNENSG00000162736ENST00000294785p.P322Sc.964C>TSubstitution - Missense
RABGAP1LENSG00000152061ENST00000347255p.R216Gc.646A>GSubstitution - Missense
FRYENSG00000073910ENST00000380250p.N1771Sc.5312A>GSubstitution - Missense
SELEENSG00000007908ENST00000333360p.P590Lc.1769C>TSubstitution - Missense
POU2F3ENSG00000137709ENST00000260264p.T380Pc.1138A>CSubstitution - Missense
BICC1ENSG00000122870ENST00000373886p.G665Gc.1995C>GSubstitution - coding silent
CACNA1HENSG00000196557ENST00000358590p.?c.1120-3_1120-2insCUnknown
DNAH3ENSG00000158486ENST00000261383p.I2505Tc.7514T>CSubstitution - Missense
PLEKHD1ENSG00000175985ENST00000322564p.?c.546+4C>TUnknown
ASPMENSG00000066279ENST00000367409p.L2889fs*49c.8666delTDeletion - Frameshift
GPR61ENSG00000156097ENST00000404129p.M154Tc.461T>CSubstitution - Missense
NUP210LENSG00000143552ENST00000368559p.F733Lc.2197T>CSubstitution - Missense
UBCENSG00000150991ENST00000339647p.I631Vc.1891A>GSubstitution - Missense
DHX37ENSG00000150990ENST00000308736p.S1086Pc.3256T>CSubstitution - Missense
NRXN3ENSG00000021645ENST00000335750p.D589Gc.1766A>GSubstitution - Missense
DPP8ENSG00000074603ENST00000300141p.E710Ec.2130A>GSubstitution - coding silent
ENST00000315089p.T83Ac.247A>GSubstitution - Missense
MGEA5ENSG00000198408ENST00000370094p.*678Kc.2032T>ANonstop extension
ATRNL1ENSG00000107518ENST00000355044p.P1336fs*12c.4003delCDeletion - Frameshift
AHNAKENSG00000124942ENST00000378024p.S5077Sc.15231G>ASubstitution - coding silent
OR56B4ENSG00000180919ENST00000316529p.L33Pc.98T>CSubstitution - Missense
SLC25A34ENSG00000162461ENST00000294454p.T149Sc.445A>TSubstitution - Missense
STARD13ENSG00000133121ENST00000336934p.I44Vc.130A>GSubstitution - Missense
COL9A2ENSG00000049089ENST00000372748p.G247Dc.740G>ASubstitution - Missense
MCL1ENSG00000143384ENST00000369026p.N260Sc.779A>GSubstitution - Missense
SLC22A10ENSG00000184999ENST00000332793p.T188Ic.563C>TSubstitution - Missense
P4HA1ENSG00000122884ENST00000263556p.D105Dc.315T>CSubstitution - coding silent
JMJD1CENSG00000171988ENST00000402544p.Y2280Cc.6839A>GSubstitution - Missense
ZC3H12CENSG00000149289ENST00000278590p.V331Ac.992T>CSubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.V809Gc.2426T>GSubstitution - Missense
DSCAML1ENSG00000177103ENST00000321322p.G1200Gc.3600C>TSubstitution - coding silent
ENST00000318130_v70p.E42Ec.126G>ASubstitution - coding silent
ENST00000433634p.M208Vc.622A>GSubstitution - Missense
SLC26A9ENSG00000174502ENST00000367135p.N542Sc.1625A>GSubstitution - Missense
FOXN3ENSG00000053254ENST00000557258p.S97fs*6c.280_281insCInsertion - Frameshift
SOS2ENSG00000100485ENST00000216373p.F305Lc.913T>CSubstitution - Missense
RRBP1ENSG00000125844ENST00000360807p.G534Sc.1600G>ASubstitution - Missense
NCKAP1ENSG00000061676ENST00000360982p.?c.109-7T>CUnknown
ITGAVENSG00000138448ENST00000261023p.?c.2167-3T>CUnknown
ZNFX1ENSG00000124201ENST00000371752p.I1857Ic.5571T>CSubstitution - coding silent
TRPM3ENSG00000083067ENST00000377110p.G834Gc.2502A>GSubstitution - coding silent
RFX3ENSG00000080298ENST00000449234p.V122Gc.365T>GSubstitution - Missense
SEBOX,VTNENSG00000109072ENST00000226218p.G224Gc.672T>CSubstitution - coding silent
AMFRENSG00000159461ENST00000290649p.D339Gc.1016A>GSubstitution - Missense
ENST00000324808p.V47Ac.140T>CSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.E1108*c.3322G>TSubstitution - Nonsense
BTN3A1ENSG00000026950ENST00000476549p.P56Pc.168G>ASubstitution - coding silent
TRAIPENSG00000183763ENST00000331456p.S367Sc.1101A>GSubstitution - coding silent
KIAA0319ENSG00000137261ENST00000378214p.L820Vc.2458C>GSubstitution - Missense
CLTCL1ENSG00000070371ENST00000263200p.A1095Tc.3283G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.V20940Ac.62819T>CSubstitution - Missense
COL20A1ENSG00000101203ENST00000326996p.T1009Ac.3025A>GSubstitution - Missense
SHCBP1ENSG00000171241ENST00000303383p.I319Vc.955A>GSubstitution - Missense
CEP97ENSG00000182504ENST00000341893p.R615Rc.1845T>CSubstitution - coding silent
CEP97ENSG00000182504ENST00000327230p.R615Rc.1845T>CSubstitution - coding silent
KIAA0195ENSG00000177728ENST00000314256p.A1232Ac.3696T>GSubstitution - coding silent
EDC4ENSG00000038358ENST00000358933p.G491Gc.1473T>CSubstitution - coding silent
SLC7A6ENSG00000103064ENST00000219343p.G210Gc.630C>TSubstitution - coding silent
SLC9A2ENSG00000115616ENST00000233969p.E83Ec.249G>ASubstitution - coding silent
TRANK1ENSG00000168016ENST00000428977p.A186fs*53c.556delGDeletion - Frameshift
SYNJ2ENSG00000078269ENST00000355585p.N598Dc.1792A>GSubstitution - Missense
SYNPO2ENSG00000172403ENST00000307142p.R400Rc.1200A>GSubstitution - coding silent
ALMS1ENSG00000116127ENST00000264448p.K2809Nc.8427A>CSubstitution - Missense
PARP15ENSG00000173200ENST00000310366p.E162Ac.485A>CSubstitution - Missense
MRPL44ENSG00000135900ENST00000258383p.R60Rc.180T>GSubstitution - coding silent
NGEFENSG00000066248ENST00000264051p.V367Dc.1100T>ASubstitution - Missense
MAGEB2ENSG00000099399ENST00000378988p.F271fs*18c.811_887del77Deletion - Frameshift
POLR1BENSG00000125630ENST00000263331p.R895Rc.2685A>GSubstitution - coding silent
ARHGAP31ENSG00000031081ENST00000264245p.G219Gc.657T>GSubstitution - coding silent
GTF3C1ENSG00000077235ENST00000356183p.E1372Ec.4116G>ASubstitution - coding silent
COL7A1ENSG00000114270ENST00000328333p.V1138Ac.3413T>CSubstitution - Missense
NR2C2APENSG00000184162ENST00000331552p.?c.235+2T>CUnknown
UPF1ENSG00000005007ENST00000262803p.P668Pc.2004A>GSubstitution - coding silent
ZNF90ENSG00000213988ENST00000418063p.K407Ec.1219A>GSubstitution - Missense
PPIL1ENSG00000137168ENST00000373699p.N148Sc.443A>GSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.V884Gc.2651T>GSubstitution - Missense
RIOK1ENSG00000124784ENST00000379834p.Y210Hc.628T>CSubstitution - Missense
NHP2L1ENSG00000100138ENST00000355257p.L89Pc.266T>CSubstitution - Missense
RMI1ENSG00000178966ENST00000325875p.K566fs*20c.1692delADeletion - Frameshift
SEMA4DENSG00000187764ENST00000450295p.T716Tc.2148G>ASubstitution - coding silent
ENST00000601113p.R188Rc.564T>CSubstitution - coding silent
CCDC109BENSG00000005059ENST00000394650p.Y143Hc.427T>CSubstitution - Missense
KAT6AENSG00000083168ENST00000265713p.?c.601-2A>GUnknown
SPIDRENSG00000164808ENST00000297423p.L50Rc.149T>GSubstitution - Missense
FUT10ENSG00000172728ENST00000327671p.M52Vc.154A>GSubstitution - Missense
TET2ENSG00000168769ENST00000305737p.H658Pc.1973A>CSubstitution - Missense
ADD2ENSG00000075340ENST00000264436p.N555Tc.1664A>CSubstitution - Missense
STXBP5ENSG00000164506ENST00000367481p.N165Sc.494A>GSubstitution - Missense
GPR126ENSG00000112414ENST00000296932p.T1163Tc.3489A>GSubstitution - coding silent
WNT6ENSG00000115596ENST00000233948p.L201Lc.601T>CSubstitution - coding silent
ENST00000378682p.V390Ac.1169T>CSubstitution - Missense
RTN4ENSG00000115310ENST00000357376p.P452fs*3c.1346_1347insCInsertion - Frameshift
ERCC1ENSG00000012061ENST00000013807p.V126Ac.377T>CSubstitution - Missense
GRIK2ENSG00000164418ENST00000421544p.K544Rc.1631A>GSubstitution - Missense
YES1ENSG00000176105ENST00000584307p.G91Gc.273T>CSubstitution - coding silent
SERPINB3ENSG00000057149ENST00000283752p.V231Ac.692T>CSubstitution - Missense
ZNF236ENSG00000130856ENST00000253159p.T1356Ac.4066A>GSubstitution - Missense
SCAPENSG00000114650ENST00000265565p.G860Dc.2579G>ASubstitution - Missense
PALM2-AKAP2ENSG00000157654ENST00000374530p.E3Gc.8A>GSubstitution - Missense
NLRP1ENSG00000091592ENST00000262467p.S821Ic.2462G>TSubstitution - Missense
PCDHGA5ENSG00000253485ENST00000518069p.L304Lc.912A>GSubstitution - coding silent
PCSK5ENSG00000099139ENST00000376752p.K739Ec.2215A>GSubstitution - Missense
SEC16AENSG00000148396ENST00000313050p.S1668Gc.5002A>GSubstitution - Missense
PCDHA12ENSG00000251664ENST00000398631p.N449Dc.1345A>GSubstitution - Missense
SGCDENSG00000170624ENST00000337851p.A91Tc.271G>ASubstitution - Missense
GCKENSG00000106633ENST00000403799p.V207Ec.620T>ASubstitution - Missense
AARSENSG00000090861ENST00000261772p.I749Fc.2245A>TSubstitution - Missense
COBLENSG00000106078ENST00000265136p.Q1030Rc.3089A>GSubstitution - Missense
C22orf15ENSG00000169314ENST00000402217p.M66Tc.197T>CSubstitution - Missense
MAGEC1ENSG00000155495ENST00000285879p.F595Lc.1783T>CSubstitution - Missense
LTBP4ENSG00000090006ENST00000308370p.Y1441Cc.4322A>GSubstitution - Missense
ATCAYENSG00000167654ENST00000450849p.Y298Hc.892T>CSubstitution - Missense
NWD1ENSG00000188039ENST00000339803p.V1049Gc.3146T>GSubstitution - Missense
TNRC6AENSG00000090905ENST00000395799p.K964Kc.2892A>GSubstitution - coding silent
RBM33ENSG00000184863ENST00000401878p.V866Ac.2597T>CSubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.K204Rc.611A>GSubstitution - Missense
ABCC10ENSG00000124574ENST00000244533p.V308Ac.923T>CSubstitution - Missense
TJAP1ENSG00000137221ENST00000372444p.A4Pc.10G>CSubstitution - Missense
ECE2ENSG00000145194ENST00000357474p.F794Lc.2380T>CSubstitution - Missense
PHGDHENSG00000092621ENST00000369407p.?c.408+10T>CUnknown
LGR6ENSG00000133067ENST00000439764p.P750fs*11c.2245delCDeletion - Frameshift
RAPGEF4ENSG00000091428ENST00000264111p.D448Vc.1343A>TSubstitution - Missense
CACNA1HENSG00000196557ENST00000348261p.Q2330Qc.6990G>ASubstitution - coding silent
TTC29ENSG00000137473ENST00000513335p.?c.255-5T>CUnknown
COL20A1ENSG00000101203ENST00000422202p.T1016Ac.3046A>GSubstitution - Missense
SEPT4ENSG00000108387ENST00000412945p.L325Sc.974T>CSubstitution - Missense
PHKA1ENSG00000067177ENST00000373539p.R971Qc.2912G>ASubstitution - Missense
HLA-AENSG00000206503ENST00000376806p.D207Ac.620A>CSubstitution - Missense
BMPR2ENSG00000204217ENST00000374580p.N583fs*44c.1742delADeletion - Frameshift
SLC6A5ENSG00000165970ENST00000525748p.V519Ic.1555G>ASubstitution - Missense
BCORL1ENSG00000085185ENST00000218147p.E1693Kc.5077G>ASubstitution - Missense
UNC5DENSG00000156687ENST00000404895p.Q730Hc.2190A>TSubstitution - Missense
ERRFI1ENSG00000116285ENST00000377482p.N135fs*40c.404delADeletion - Frameshift
CD34ENSG00000174059ENST00000367036p.G193Gc.579A>GSubstitution - coding silent
TET2ENSG00000168769ENST00000380013p.H658Pc.1973A>CSubstitution - Missense
ENST00000412131p.Y1688fs*3c.5061_5062insCInsertion - Frameshift
DGKZENSG00000149091ENST00000454345p.E1038fs*4c.3110_3111insCInsertion - Frameshift
ENST00000268134p.R890Rc.2668A>CSubstitution - coding silent
NM_014903.3p.C2302Wc.6906C>GSubstitution - Missense
TEX30ENSG00000151287ENST00000376019p.N150Dc.448A>GSubstitution - Missense
OR6S1ENSG00000181803ENST00000320704p.L316fs*1c.947delTDeletion - Frameshift
SLC22A17ENSG00000092096ENST00000206544p.N85Sc.254A>GSubstitution - Missense
PARP2ENSG00000129484ENST00000250416p.R13fs*10c.36_37ins14Insertion - Frameshift
SALL2ENSG00000165821ENST00000327430p.H423Rc.1268A>GSubstitution - Missense
BTBD16ENSG00000138152ENST00000260723p.N438Sc.1313A>GSubstitution - Missense
PPIL2ENSG00000100023ENST00000335025p.T303fs*27c.903delADeletion - Frameshift
BMPERENSG00000164619ENST00000297161p.P658Lc.1973C>TSubstitution - Missense
ZNF311ENSG00000197935ENST00000377179p.V223Gc.668T>GSubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.V2026Ac.6077T>CSubstitution - Missense
AP1G1ENSG00000166747ENST00000299980p.?c.1088+2T>CUnknown
NOTCH3ENSG00000074181ENST00000263388p.D1864Gc.5591A>GSubstitution - Missense
GPR20ENSG00000204882ENST00000377741p.V127Ac.380T>CSubstitution - Missense
MYO16ENSG00000041515ENST00000251041p.?c.1360-2A>CUnknown
CDK17ENSG00000059758ENST00000543119p.D110Nc.328G>ASubstitution - Missense
UBQLN3ENSG00000175520ENST00000311659p.G115Gc.345A>TSubstitution - coding silent
ANKDD1AENSG00000166839ENST00000496660p.D58Ec.174T>GSubstitution - Missense
BCAP29ENSG00000075790ENST00000379121p.W20fs*2c.52delTDeletion - Frameshift
MYH14ENSG00000105357ENST00000440075p.Q511Rc.1532A>GSubstitution - Missense
CACNA1IENSG00000100346ENST00000336649p.I725Nc.2174T>ASubstitution - Missense
AP1G1ENSG00000166747ENST00000423132p.?c.1097+2T>CUnknown
ACTN1ENSG00000072110ENST00000394419p.D846Dc.2538T>CSubstitution - coding silent
INSRRENSG00000027644ENST00000368195p.L920fs*37c.2757delGDeletion - Frameshift
EP300ENSG00000100393ENST00000263253p.N1547fs*17c.4636delADeletion - Frameshift
PPP1R36ENSG00000165807ENST00000298705p.H350Hc.1050T>CSubstitution - coding silent
BCAP29ENSG00000075790ENST00000445771p.W114fs*2c.334delTDeletion - Frameshift
PRKDCENSG00000253729ENST00000314191p.Y3714Cc.11141A>GSubstitution - Missense
PRODH2ENSG00000250799ENST00000301175p.G102Gc.306C>TSubstitution - coding silent
BANPENSG00000172530ENST00000355022p.V198Ac.593T>CSubstitution - Missense
CORO2AENSG00000106789ENST00000343933p.I159Lc.475A>CSubstitution - Missense
SPAG11AENSG00000178287ENST00000326558p.F94fs*>15c.275delTDeletion - Frameshift
FANK1ENSG00000203780ENST00000368693p.K336fs*>10c.1000delADeletion - Frameshift
MYCBP2ENSG00000005810ENST00000357337p.G759Gc.2277T>CSubstitution - coding silent
CR1ENSG00000203710ENST00000400960p.L168Pc.503T>CSubstitution - Missense
KIF1BENSG00000054523ENST00000377093p.T1062Ac.3184A>GSubstitution - Missense
RNF113BENSG00000139797ENST00000267291p.F114Lc.340T>CSubstitution - Missense
ENST00000394823p.?c.202+3A>GUnknown
MYOFENSG00000138119ENST00000359263p.F499Lc.1497T>GSubstitution - Missense
EIF4BENSG00000063046ENST00000262056p.?c.1577-10G>AUnknown
PEAR1ENSG00000187800ENST00000338302p.R735Gc.2203A>GSubstitution - Missense
HAPLN3ENSG00000140511ENST00000359595p.W205Rc.613T>CSubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.A38Vc.113C>TSubstitution - Missense
PI4KBENSG00000143393ENST00000368875p.I762Vc.2284A>GSubstitution - Missense
TET1ENSG00000138336ENST00000373644p.Q890Qc.2670A>GSubstitution - coding silent
IRF2BPLENSG00000119669ENST00000238647p.N212Sc.635A>GSubstitution - Missense
ABI1ENSG00000136754ENST00000376142p.K205fs*10c.615delADeletion - Frameshift
ELP4ENSG00000109911ENST00000395934p.V146Vc.438A>GSubstitution - coding silent
HYOU1ENSG00000149428ENST00000404233p.T600Ac.1798A>GSubstitution - Missense
DSCAML1ENSG00000177103ENST00000321322p.R2072Rc.6216A>GSubstitution - coding silent
CACNA1EENSG00000198216ENST00000367573p.M523Vc.1567A>GSubstitution - Missense
CHI3L2ENSG00000064886ENST00000369748p.N152fs*7c.452delADeletion - Frameshift
SLC26A9ENSG00000174502ENST00000367134p.N542Sc.1625A>GSubstitution - Missense
JKAMPENSG00000050130ENST00000261247p.F303Ic.907T>ASubstitution - Missense
MAPK1IP1LENSG00000168175ENST00000395468p.P190Pc.570A>GSubstitution - coding silent
SPTBENSG00000070182ENST00000542895p.A700Vc.2099C>TSubstitution - Missense
SOS2ENSG00000100485ENST00000216373p.I608Vc.1822A>GSubstitution - Missense
RNF17ENSG00000132972ENST00000255324p.K105Rc.314A>GSubstitution - Missense
ESR2ENSG00000140009ENST00000341099p.M453Tc.1358T>CSubstitution - Missense
CELF5ENSG00000161082ENST00000292672p.?c.892+7C>AUnknown
RBM12BENSG00000183808ENST00000399300p.G505Gc.1515T>CSubstitution - coding silent
CSNK1DENSG00000141551ENST00000392334p.L252Pc.755T>CSubstitution - Missense
LRRC3CENSG00000204913ENST00000377924p.C52Cc.156T>CSubstitution - coding silent
PCNTENSG00000160299ENST00000359568p.R2212Qc.6635G>ASubstitution - Missense
GREB1LENSG00000141449ENST00000424526p.P1258Pc.3774C>ASubstitution - coding silent
ACTR1BENSG00000115073ENST00000289228p.V164Gc.491T>GSubstitution - Missense
INPP4AENSG00000040933ENST00000074304p.L912Pc.2735T>CSubstitution - Missense
MRGBPENSG00000101189ENST00000370487p.?c.149-3C>TUnknown
ZNF28ENSG00000198538ENST00000457749p.Q216Qc.648A>GSubstitution - coding silent
ENST00000405167p.S3445Gc.10333A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H989Dc.2965C>GSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.V284Lc.850G>CSubstitution - Missense
TIMM8BENSG00000150779ENST00000541231p.M16Vc.46A>GSubstitution - Missense
ENST00000280354p.M1Vc.1A>GSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.L2322Pc.6965T>CSubstitution - Missense
GOLGA5ENSG00000066455ENST00000163416p.Q491Pc.1472A>CSubstitution - Missense
SPATA6ENSG00000132122ENST00000371847p.P21Pc.63A>TSubstitution - coding silent
ADARENSG00000160710ENST00000368474p.V807Vc.2421A>TSubstitution - coding silent
MYO16ENSG00000041515ENST00000357550p.?c.1360-2A>CUnknown
JKAMPENSG00000050130ENST00000261247p.G317Ac.950G>CSubstitution - Missense
SLC35B1ENSG00000121073ENST00000240333p.L153Pc.458T>CSubstitution - Missense
RAD21L1ENSG00000244588ENST00000409241p.I41Vc.121A>GSubstitution - Missense
PLEKHG5ENSG00000171680ENST00000377748p.E717Vc.2150A>TSubstitution - Missense
ENST00000344648p.T44Pc.130A>CSubstitution - Missense
INO80DENSG00000114933ENST00000403263p.S213Sc.639A>GSubstitution - coding silent
EMR1ENSG00000174837ENST00000312053p.?c.802+2T>GUnknown
LRRN4ENSG00000125872ENST00000378858p.S441Nc.1322G>ASubstitution - Missense
ENST00000374375_v68p.R67Wc.199A>TSubstitution - Missense
HRH3ENSG00000101180ENST00000340177p.W371Rc.1111T>CSubstitution - Missense
PRR12ENSG00000126464ENST00000418929p.A1930Vc.5789C>TSubstitution - Missense
MYH14ENSG00000105357ENST00000262269p.?c.590+1G>AUnknown
CDH17ENSG00000079112ENST00000027335p.H490Rc.1469A>GSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.C3275Cc.9825C>TSubstitution - coding silent
MAGI1ENSG00000151276ENST00000402939p.A1300Vc.3899C>TSubstitution - Missense
ENST00000377680p.A65Ac.195C>GSubstitution - coding silent
ANKRD36CENSG00000174501ENST00000420871p.E832Gc.2495A>GSubstitution - Missense
CSNK1DENSG00000141551ENST00000314028p.L252Pc.755T>CSubstitution - Missense
SETBP1ENSG00000152217ENST00000282030p.P832Sc.2494C>TSubstitution - Missense
C9orf156ENSG00000136932ENST00000375119p.?c.76+6T>AUnknown
NOTUMENSG00000185269ENST00000409678p.D278Gc.833A>GSubstitution - Missense
TBX4ENSG00000121075ENST00000240335p.I280Vc.838A>GSubstitution - Missense
IKZF3ENSG00000161405ENST00000346872p.F146Ic.436T>ASubstitution - Missense
POU1F1ENSG00000064835ENST00000344265p.V283Ac.848T>CSubstitution - Missense
COL6A2ENSG00000142173ENST00000310645p.K151Rc.452A>GSubstitution - Missense
C17orf85ENSG00000074356ENST00000158149p.E148Ec.444A>GSubstitution - coding silent
ERVW-1ENSG00000242950ENST00000493463p.H176Hc.528T>CSubstitution - coding silent
EPPK1ENSG00000227184ENST00000525985p.G1575Rc.4723G>ASubstitution - Missense
FZD7ENSG00000155760ENST00000286201p.G409Rc.1225G>ASubstitution - Missense
RFTN2ENSG00000162944ENST00000295049p.Q393Hc.1179G>TSubstitution - Missense
CRYBA4ENSG00000196431ENST00000354760p.G52Gc.156A>GSubstitution - coding silent
LMF1ENSG00000103227ENST00000262301p.E356Kc.1066G>ASubstitution - Missense
ORC6ENSG00000091651ENST00000219097p.I171Mc.513A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H3421Qc.10263C>GSubstitution - Missense
ENST00000405167p.V1017Ac.3050T>CSubstitution - Missense
ZNF134ENSG00000213762ENST00000396161p.H222Hc.666T>CSubstitution - coding silent
LONRF2ENSG00000170500ENST00000393437p.R475Cc.1423C>TSubstitution - Missense
XM_098980.6p.K684fs*45c.2049delADeletion - Frameshift
MMRN1ENSG00000138722ENST00000394980p.N857Kc.2571T>ASubstitution - Missense
DPEP2ENSG00000167261ENST00000393847p.A76Ac.228A>GSubstitution - coding silent
C3orf20ENSG00000131379ENST00000253697p.?c.2630+3A>GUnknown
SLCO4C1ENSG00000173930ENST00000310954p.S215Rc.643A>CSubstitution - Missense
NHSL1ENSG00000135540ENST00000343505p.G1086Gc.3258C>TSubstitution - coding silent
GLB1LENSG00000163521ENST00000295759p.P523Lc.1568C>TSubstitution - Missense
SLC12A9ENSG00000146828ENST00000354161p.P29fs*100c.83_84insGInsertion - Frameshift
EPHB1ENSG00000154928ENST00000398015p.V718Mc.2152G>ASubstitution - Missense
ACOT12ENSG00000172497ENST00000307624p.Q271Ec.811C>GSubstitution - Missense
SLC30A8ENSG00000164756ENST00000456015p.L267*c.800T>GSubstitution - Nonsense
HAP1ENSG00000173805ENST00000347901p.S30Sc.90A>GSubstitution - coding silent
HDAC5ENSG00000108840ENST00000393622p.L374Lc.1122A>GSubstitution - coding silent
ATP11BENSG00000058063ENST00000323116p.Y881Hc.2641T>CSubstitution - Missense
ZNF570ENSG00000171827ENST00000330173p.E164Vc.491A>TSubstitution - Missense
TLE1ENSG00000196781ENST00000376499p.?c.1332-8T>CUnknown
PCDHB14ENSG00000120327ENST00000239449p.I771Tc.2312T>CSubstitution - Missense
SOX30ENSG00000039600ENST00000265007p.S627Sc.1881T>CSubstitution - coding silent
C17orf50ENSG00000154768ENST00000285023p.Y154Cc.461A>GSubstitution - Missense
SHROOM2ENSG00000146950ENST00000380913p.A1164Pc.3490G>CSubstitution - Missense
VCANENSG00000038427ENST00000265077p.F1682fs*25c.5041delTDeletion - Frameshift
MTMR4ENSG00000108389ENST00000323456p.C91Rc.271T>CSubstitution - Missense
NLRP1ENSG00000091592ENST00000572272p.S821Ic.2462G>TSubstitution - Missense
ZNF732ENSG00000186777ENST00000419098p.T557fs*>29c.1669delADeletion - Frameshift
LRFN3ENSG00000126243ENST00000246529p.V43Gc.128T>GSubstitution - Missense
ZNF571ENSG00000180479ENST00000328550p.E436Ec.1308A>GSubstitution - coding silent
PCDHB2ENSG00000112852ENST00000194155p.G615Rc.1843G>ASubstitution - Missense
ZNF527ENSG00000189164ENST00000356178p.L116Pc.347T>CSubstitution - Missense
CCT6AENSG00000146731ENST00000275603p.G345Gc.1035A>GSubstitution - coding silent
GEMIN5ENSG00000082516ENST00000285873p.G912Dc.2735G>ASubstitution - Missense
SLC36A2ENSG00000186335ENST00000335244p.I449Tc.1346T>CSubstitution - Missense
SAGE1ENSG00000181433ENST00000324447p.T808Tc.2424T>GSubstitution - coding silent
DDX39BENSG00000198563ENST00000453105p.E87Gc.260A>GSubstitution - Missense
DOCK4ENSG00000128512ENST00000437633p.D1751Gc.5252A>GSubstitution - Missense
VPS13BENSG00000132549ENST00000357162p.E3452Ec.10356A>GSubstitution - coding silent
PANK2ENSG00000125779ENST00000316562p.N365Tc.1094A>CSubstitution - Missense
PIGGENSG00000174227ENST00000310340p.G501Gc.1503T>CSubstitution - coding silent
KCNH7ENSG00000184611ENST00000332142p.D882Ac.2645A>CSubstitution - Missense
ENPP5ENSG00000112796ENST00000371383p.A14Gc.41C>GSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.F1643Vc.4927T>GSubstitution - Missense
SYNGAP1ENSG00000197283ENST00000418600p.G1056fs*21c.3163delGDeletion - Frameshift
DHX38ENSG00000140829ENST00000268482p.R289Rc.867T>GSubstitution - coding silent
EIF2B5ENSG00000145191ENST00000273783p.A677Ac.2031T>GSubstitution - coding silent
EPHB3ENSG00000182580ENST00000330394p.L965Pc.2894T>CSubstitution - Missense
GRM6ENSG00000113262ENST00000231188p.?c.2124+2T>CUnknown
NM_207305.1p.Q201Rc.602A>GSubstitution - Missense
SCARB1ENSG00000073060ENST00000540495p.H443Rc.1328A>GSubstitution - Missense
MYOFENSG00000138119ENST00000371502p.F499Lc.1497T>GSubstitution - Missense
CDH23ENSG00000107736ENST00000299366p.V1005Ac.3014T>CSubstitution - Missense
MYO9AENSG00000066933ENST00000424560p.?c.1722+6T>CUnknown
LPHN2ENSG00000117114ENST00000449420p.E1250Ec.3750G>ASubstitution - coding silent
PBX1ENSG00000185630ENST00000540236p.S325Sc.975G>CSubstitution - coding silent
KIF18BENSG00000186185ENST00000590129p.S204Sc.612A>GSubstitution - coding silent
CEP78ENSG00000148019ENST00000424347p.S444Gc.1330A>GSubstitution - Missense
DDX39BENSG00000198563ENST00000428450p.E162Gc.485A>GSubstitution - Missense
ACTN1ENSG00000072110ENST00000394419p.F399Cc.1196T>GSubstitution - Missense
PCDHB16ENSG00000196963ENST00000361016p.A693Vc.2078C>TSubstitution - Missense
CAPN3ENSG00000092529ENST00000397163p.R197Hc.590G>ASubstitution - Missense
DSCAML1ENSG00000177103ENST00000321322p.C1614*c.4842C>ASubstitution - Nonsense
PAPPA2ENSG00000116183ENST00000367661p.S234Gc.700A>GSubstitution - Missense
SVILENSG00000197321ENST00000355867p.S547Sc.1641T>GSubstitution - coding silent
NM_003120.1p.T192Ac.574A>GSubstitution - Missense
SORBS1ENSG00000095637ENST00000371247p.E517fs*7c.1551delADeletion - Frameshift
OR6C74ENSG00000197706ENST00000343870p.V7Ac.20T>CSubstitution - Missense
ENST00000334203p.L206Rc.617T>GSubstitution - Missense
PPP1CAENSG00000172531ENST00000542876p.P155Pc.465C>TSubstitution - coding silent
CNNM1ENSG00000119946ENST00000370534p.T234Tc.702G>TSubstitution - coding silent
CTTNENSG00000085733ENST00000301843p.A506Vc.1517C>TSubstitution - Missense
SYT12ENSG00000173227ENST00000393946p.R85Wc.253C>TSubstitution - Missense
NM_018979p.?c.3372+7A>GUnknown
GOLGA6L2ENSG00000174450ENST00000312015p.T157fs*46c.469delADeletion - Frameshift
ACOT4ENSG00000177465ENST00000326303p.L68Pc.203T>CSubstitution - Missense
TIE1ENSG00000066056ENST00000372476p.G280Gc.840C>TSubstitution - coding silent
FLGENSG00000143631ENST00000368799p.S3981Gc.11941A>GSubstitution - Missense
HINFPENSG00000172273ENST00000350777p.N142Nc.426T>CSubstitution - coding silent
BIRC3ENSG00000023445ENST00000263464p.T498Ac.1492A>GSubstitution - Missense
CD3EENSG00000198851ENST00000361763p.T48Tc.144A>GSubstitution - coding silent
MUC2ENSG00000198788ENST00000441003p.T1995Ac.5983A>GSubstitution - Missense
ENST00000417177p.V814Gc.2441T>GSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.?c.6304+3G>AUnknown
PTERENSG00000165983ENST00000378000p.R22Cc.64C>TSubstitution - Missense
KDM5BENSG00000117139ENST00000367265p.S1284Ac.3850T>GSubstitution - Missense
FAM63BENSG00000128923ENST00000559228p.S324Sc.972T>CSubstitution - coding silent
KRT2ENSG00000172867ENST00000309680p.G49Gc.147T>CSubstitution - coding silent
PEAK1ENSG00000173517ENST00000312493p.E155Gc.464A>GSubstitution - Missense
AMBRA1ENSG00000110497ENST00000314845p.T1177Ac.3529A>GSubstitution - Missense
LRRC4CENSG00000148948ENST00000278198p.A398Vc.1193C>TSubstitution - Missense
SPI1ENSG00000066336ENST00000227163p.T199Ac.595A>GSubstitution - Missense
TIRAPENSG00000150455ENST00000392678p.L69Lc.207G>ASubstitution - coding silent
DNTTENSG00000107447ENST00000371174p.A318Ac.954T>GSubstitution - coding silent
MARCH9ENSG00000139266ENST00000266643p.L202Lc.606C>TSubstitution - coding silent
C2CD3ENSG00000168014ENST00000334126p.V59Vc.177A>GSubstitution - coding silent
ABHD2ENSG00000140526ENST00000352732p.P41Pc.123A>CSubstitution - coding silent
ENTPD7ENSG00000198018ENST00000370489p.G344Gc.1032T>CSubstitution - coding silent
SDCCAG8ENSG00000054282ENST00000366541p.E158Gc.473A>GSubstitution - Missense
FRYENSG00000073910ENST00000380250p.I2588Vc.7762A>GSubstitution - Missense
OVOL1ENSG00000172818ENST00000335987p.R102Hc.305G>ASubstitution - Missense
NRXN2ENSG00000110076ENST00000301894p.T569Ac.1705A>GSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.?c.1120-3_1120-2insCUnknown
VSIG10ENSG00000176834ENST00000359236p.?c.80-2A>GUnknown
BIRC3ENSG00000023445ENST00000263464p.Q311Rc.932A>GSubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.S1111Sc.3333C>ASubstitution - coding silent
CHATENSG00000070748ENST00000395562p.A280Ac.840C>TSubstitution - coding silent
RSBN1ENSG00000081019ENST00000261441p.D34Gc.101A>GSubstitution - Missense
NM_015133.2p.?c.3086-9T>CUnknown
ACBD5ENSG00000107897ENST00000375905p.T438Tc.1314A>GSubstitution - coding silent
SCARB1ENSG00000073060ENST00000415380p.H480Rc.1439A>GSubstitution - Missense
GATAD2BENSG00000143614ENST00000368655p.F427Sc.1280T>CSubstitution - Missense
ASH1LENSG00000116539ENST00000392403p.S453fs*4c.1357delTDeletion - Frameshift
LRRN2ENSG00000170382ENST00000367175p.Y91Yc.273C>TSubstitution - coding silent
MAP3K6ENSG00000142733ENST00000374040p.Q513Rc.1538A>GSubstitution - Missense
HIF1AENSG00000100644ENST00000337138p.H744Rc.2231A>GSubstitution - Missense
LRRC7ENSG00000033122ENST00000035383p.V596Ic.1786G>ASubstitution - Missense
UBXN2BENSG00000215114ENST00000399598p.Y163Hc.487T>CSubstitution - Missense
CPS1ENSG00000021826ENST00000233072p.?c.2568+6A>TUnknown
SENP3ENSG00000161956ENST00000429205p.V376Ec.1127T>ASubstitution - Missense
DCAF12L2ENSG00000198354ENST00000360028p.L51Rc.152T>GSubstitution - Missense
NM_003685.1p.P220fs*20c.659delCDeletion - Frameshift
MTG2ENSG00000101181ENST00000370823p.Q358Rc.1073A>GSubstitution - Missense
GDF5OSENSG00000204183ENST00000374375p.R67Wc.199A>TSubstitution - Missense
NFATC2ENSG00000101096ENST00000396009p.L370Rc.1109T>GSubstitution - Missense
TLDC2ENSG00000101342ENST00000217320p.P69Pc.207A>GSubstitution - coding silent
SAMHD1ENSG00000101347ENST00000262878p.Y407Cc.1220A>GSubstitution - Missense
CDH26ENSG00000124215ENST00000348616p.I144fs*6c.426delADeletion - Frameshift
FLNBENSG00000136068ENST00000295956p.V2575Ic.7723G>ASubstitution - Missense
SPC24ENSG00000161888ENST00000423327p.M1Tc.2T>CSubstitution - Missense
SU_NEK8p.?c.1256-10T>CUnknown
QARSENSG00000172053ENST00000306125p.Y491Cc.1472A>GSubstitution - Missense
ZBTB21ENSG00000173276ENST00000398499p.T558Pc.1672A>CSubstitution - Missense
PLECENSG00000178209ENST00000354958p.H33Rc.98A>GSubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.P165Pc.495A>GSubstitution - coding silent
EFR3BENSG00000084710ENST00000403714p.K367Ec.1099A>GSubstitution - Missense
ATF2ENSG00000115966ENST00000264110p.S442Sc.1326A>CSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.L30947Vc.92839T>GSubstitution - Missense
ZNF28ENSG00000198538ENST00000438150p.Q163Qc.489A>GSubstitution - coding silent
PIEZO1ENSG00000103335ENST00000301015p.V1145Ac.3434T>CSubstitution - Missense
HSPD1ENSG00000144381ENST00000388968p.?c.174+2T>CUnknown
AZI2ENSG00000163512ENST00000479665p.N157Dc.469A>GSubstitution - Missense
GPRIN3ENSG00000185477ENST00000333209p.Q101Rc.302A>GSubstitution - Missense
FRAS1ENSG00000138759ENST00000325942p.L1226fs*31c.3674delTDeletion - Frameshift
TRANK1ENSG00000168016ENST00000429976p.A736fs*53c.2206delGDeletion - Frameshift
ARHGEF26ENSG00000114790ENST00000356448p.R145Hc.434G>ASubstitution - Missense
ENST00000328380p.?c.4756-4T>CUnknown
FBXL13ENSG00000161040ENST00000436908p.A304Dc.911C>ASubstitution - Missense
EIF2AK1ENSG00000086232ENST00000199389p.V305Ac.914T>CSubstitution - Missense
NM_001184p.G1439Gc.4317T>CSubstitution - coding silent
CLVS2ENSG00000146352ENST00000275162p.T26Tc.78G>ASubstitution - coding silent
MTG2ENSG00000101181ENST00000370823p.N377Sc.1130A>GSubstitution - Missense
SMARCA4ENSG00000127616ENST00000429416p.C891Wc.2673C>GSubstitution - Missense
LAMA3ENSG00000053747ENST00000313654p.D1557Gc.4670A>GSubstitution - Missense
SPAG5ENSG00000076382ENST00000321765p.L620Pc.1859T>CSubstitution - Missense
NLRC5ENSG00000140853ENST00000262510p.F576Lc.1726T>CSubstitution - Missense
ITGAEENSG00000083457ENST00000263087p.?c.2754+1G>AUnknown
SLC19A1ENSG00000173638ENST00000311124p.G307Gc.921C>TSubstitution - coding silent
GBE1ENSG00000114480ENST00000429644p.V213Ac.638T>CSubstitution - Missense
ARHGAP39ENSG00000147799ENST00000377307p.Y313Yc.939C>TSubstitution - coding silent
DACT2ENSG00000164488ENST00000366795p.D660Nc.1978G>ASubstitution - Missense
BHLHE40ENSG00000134107ENST00000256495p.L336Lc.1006C>TSubstitution - coding silent
HIST1H4EENSG00000198518ENST00000360441p.R24*c.70C>TSubstitution - Nonsense
BPIFB2ENSG00000078898ENST00000170150p.G249Gc.747T>CSubstitution - coding silent
RGS11ENSG00000076344ENST00000397770p.V312fs*89c.933delCDeletion - Frameshift
HSPD1ENSG00000144381ENST00000426480p.?c.300+2T>CUnknown
NM_007023.1p.D449Vc.1346A>TSubstitution - Missense
NLRP12ENSG00000142405ENST00000324134p.E21Dc.63G>TSubstitution - Missense
CXorf30ENSG00000205081ENST00000378657p.K342Ec.1024A>GSubstitution - Missense
ENST00000405167p.P2256Sc.6766C>TSubstitution - Missense
NPAS2ENSG00000170485ENST00000542504p.?c.1824+5T>CUnknown
PCDH18ENSG00000189184ENST00000344876p.N1103Nc.3309T>CSubstitution - coding silent
ADD2ENSG00000075340ENST00000355733p.N555Tc.1664A>CSubstitution - Missense
CCT7ENSG00000135624ENST00000258091p.I168Vc.502A>GSubstitution - Missense
ELMO3ENSG00000102890ENST00000393997p.A431Tc.1291G>ASubstitution - Missense
MUC3AENSG00000169894ENST00000319509p.A333Ac.999C>ASubstitution - coding silent
ABCA2ENSG00000107331ENST00000341511p.S815Ac.2443T>GSubstitution - Missense
UROC1ENSG00000159650ENST00000290868p.A619Tc.1855G>ASubstitution - Missense
UROC1ENSG00000159650ENST00000383579p.M180Ic.540G>ASubstitution - Missense
PHLDB2ENSG00000144824ENST00000412622p.N933Sc.2798A>GSubstitution - Missense
LARS2ENSG00000011376ENST00000265537p.K582Kc.1746A>GSubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.G3483Gc.10449A>GSubstitution - coding silent
KRT19ENSG00000171345ENST00000361566p.G122Gc.366G>CSubstitution - coding silent
WNK4ENSG00000126562ENST00000246914p.E1027Dc.3081G>TSubstitution - Missense
LCA5ENSG00000135338ENST00000392959p.Q442Hc.1326A>CSubstitution - Missense
ATAD5ENSG00000176208ENST00000321990p.K793Kc.2379A>GSubstitution - coding silent
ARHGAP26ENSG00000145819ENST00000274498p.I561Mc.1683A>GSubstitution - Missense
XM_499251.1p.K459Nc.1377A>CSubstitution - Missense
EZH2ENSG00000106462ENST00000320356p.A487Ac.1461T>CSubstitution - coding silent
MYO1GENSG00000136286ENST00000258787p.P75Pc.225A>CSubstitution - coding silent
EGFL6ENSG00000198759ENST00000380602p.D129Dc.387T>CSubstitution - coding silent
VWA3AENSG00000175267ENST00000389398p.C714Rc.2140T>CSubstitution - Missense
MEGF8ENSG00000105429ENST00000334370p.R2180Hc.6539G>ASubstitution - Missense
ZMYND8ENSG00000101040ENST00000461685p.I245Vc.733A>GSubstitution - Missense
DXOENSG00000204348ENST00000375349p.R319Rc.957T>CSubstitution - coding silent
TENM2ENSG00000145934ENST00000519204p.Y1901Dc.5701T>GSubstitution - Missense
CENPKENSG00000123219ENST00000396679p.T78fs*7c.232delADeletion - Frameshift
POLHENSG00000170734ENST00000372236p.T522Ac.1564A>GSubstitution - Missense
RCAN2ENSG00000172348ENST00000371374p.C30Yc.89G>ASubstitution - Missense
TNXBENSG00000168477ENST00000375247p.H2103Rc.6308A>GSubstitution - Missense
C9orf9ENSG00000165698ENST00000372136p.Y134Yc.402C>TSubstitution - coding silent
LRRC8AENSG00000136802ENST00000372599p.Y261Fc.782A>TSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.T843Tc.2529T>CSubstitution - coding silent
NRP1ENSG00000099250ENST00000431894p.G4Cc.10G>TSubstitution - Missense
RALGAPA1ENSG00000174373ENST00000258840p.R856Rc.2568A>GSubstitution - coding silent
LRIT3ENSG00000183423ENST00000594814p.C553Gc.1657T>GSubstitution - Missense
PLA2G4CENSG00000105499ENST00000599111p.E452Ac.1355A>CSubstitution - Missense
THADAENSG00000115970ENST00000330266p.Y266Nc.796T>ASubstitution - Missense
EIF2AK1ENSG00000086232ENST00000536084p.V181Ac.542T>CSubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.D340Dc.1020C>TSubstitution - coding silent
NM_014614.1p.T1691fs*>39c.5071delADeletion - Frameshift
DOCK8ENSG00000107099ENST00000432829p.F1045fs*2c.3128delTDeletion - Frameshift
ZDHHC8ENSG00000099904ENST00000334554p.T459fs*177c.1369delCDeletion - Frameshift
PA2G4ENSG00000170515ENST00000303305p.L110Ic.328C>ASubstitution - Missense
HMG20AENSG00000140382ENST00000336216p.T183Pc.547A>CSubstitution - Missense
ZNF451ENSG00000112200ENST00000370706p.G166Gc.498G>ASubstitution - coding silent
VGLL2ENSG00000170162ENST00000326274p.Y31Hc.91T>CSubstitution - Missense
ARHGAP28ENSG00000088756ENST00000314319p.N369Tc.1106A>CSubstitution - Missense
LOXENSG00000113083ENST00000231004p.A139Ac.417C>TSubstitution - coding silent
ZNF462ENSG00000148143ENST00000457913p.T792Pc.2374A>CSubstitution - Missense
SLC2A6ENSG00000160326ENST00000414172p.?c.166-7T>GUnknown
ENST00000274705p.E353Dc.1059G>TSubstitution - Missense
AOC1ENSG00000002726ENST00000360937p.M479Vc.1435A>GSubstitution - Missense
ATXN7L1ENSG00000146776ENST00000419735p.D637Dc.1911C>TSubstitution - coding silent
COG5ENSG00000164597ENST00000297135p.?c.1407-2A>GUnknown
ENST00000450194p.K1326Nc.3978A>CSubstitution - Missense
PRNPENSG00000171867ENST00000379440p.E152Gc.455A>GSubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.Y2022Dc.6064T>GSubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.N2535Tc.7604A>CSubstitution - Missense
TDRD6ENSG00000180113ENST00000316081p.P537Lc.1610C>TSubstitution - Missense
SLC35B2ENSG00000157593ENST00000393812p.L17Pc.50T>CSubstitution - Missense
OR8H3ENSG00000181761ENST00000313472p.T195Tc.585T>CSubstitution - coding silent
TMPRSS13ENSG00000137747ENST00000526090p.A129Vc.386C>TSubstitution - Missense
CLCN6ENSG00000011021ENST00000376497p.E49Gc.146A>GSubstitution - Missense
PCDH9ENSG00000184226ENST00000377861p.V473Vc.1419A>GSubstitution - coding silent
ITIH4ENSG00000055955ENST00000346281p.S579Sc.1737A>TSubstitution - coding silent
MAPK3ENSG00000102882ENST00000403394p.P40Pc.120G>TSubstitution - coding silent
C9orf156ENSG00000136932ENST00000375117p.?c.73+6T>AUnknown
ORM1ENSG00000229314ENST00000538816p.S11Rc.31A>CSubstitution - Missense
KDM6AENSG00000147050ENST00000382899p.R1118Cc.3352C>TSubstitution - Missense
CCDC180ENSG00000197816ENST00000411667p.Q342Qc.1026A>GSubstitution - coding silent
PCDHA13ENSG00000239389ENST00000289272p.R635Hc.1904G>ASubstitution - Missense
MAGI1ENSG00000151276ENST00000330909p.D524Gc.1571A>GSubstitution - Missense
SHPRHENSG00000146414ENST00000438092p.G458fs*26c.1371delADeletion - Frameshift
ATRNL1ENSG00000107518ENST00000355044p.F192fs*8c.570delTDeletion - Frameshift
TP53ENSG00000141510ENST00000455263p.V216Mc.646G>ASubstitution - Missense
LYPLAL1ENSG00000143353ENST00000366928p.L9Lc.27G>ASubstitution - coding silent
MYCBP2ENSG00000005810ENST00000407578p.G797Gc.2391T>CSubstitution - coding silent
RB1ENSG00000139687ENST00000267163p.I517Vc.1549A>GSubstitution - Missense
PARVAENSG00000197702ENST00000538608p.T234Pc.700A>CSubstitution - Missense
VWFENSG00000110799ENST00000261405p.N1574Sc.4721A>GSubstitution - Missense
AQP2ENSG00000167580ENST00000199280p.L38Pc.113T>CSubstitution - Missense
FOXG1ENSG00000176165ENST00000382535p.S433Tc.1297T>ASubstitution - Missense
CHD8ENSG00000100888ENST00000399982p.M2433Vc.7297A>GSubstitution - Missense
GNPTABENSG00000111670ENST00000299314p.H681Hc.2043T>CSubstitution - coding silent
SDCCAG8ENSG00000054282ENST00000366541p.R332Rc.996A>GSubstitution - coding silent
RSC1A1ENSG00000215695ENST00000345034p.G431Vc.1292G>TSubstitution - Missense
PTPRUENSG00000060656ENST00000345512p.G1055Gc.3165C>TSubstitution - coding silent
CAMKK2ENSG00000110931ENST00000392473p.M193Tc.578T>CSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.V812Ac.2435T>CSubstitution - Missense
KCND3ENSG00000171385ENST00000369697p.D115Gc.344A>GSubstitution - Missense
SU_QSKp.I825Fc.2473A>TSubstitution - Missense
NMNAT2ENSG00000157064ENST00000294868p.N137Sc.410A>GSubstitution - Missense
GRM5ENSG00000168959ENST00000305432p.M397fs*4c.1189delADeletion - Frameshift
GCOM1ENSG00000137878ENST00000574161p.E372Dc.1116G>TSubstitution - Missense
RALGAPA1ENSG00000174373ENST00000307138p.R809Rc.2427A>GSubstitution - coding silent
FGRENSG00000000938ENST00000374005p.F104Lc.310T>CSubstitution - Missense
PPP2R5CENSG00000078304ENST00000334743p.E344*c.1030G>TSubstitution - Nonsense
F7ENSG00000057593ENST00000375581p.Y417Cc.1250A>GSubstitution - Missense
ATP11AENSG00000068650ENST00000375630p.T175Ac.523A>GSubstitution - Missense
LRRC37A2ENSG00000238083ENST00000333412p.K1389fs*46c.4164delADeletion - Frameshift
COL1A1ENSG00000108821ENST00000225964p.P789Sc.2365C>TSubstitution - Missense
SERPINF1ENSG00000132386ENST00000254722p.S138Sc.414T>CSubstitution - coding silent
TNRC6CENSG00000078687ENST00000301624p.T1423Ac.4267A>GSubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.D3105Nc.9313G>ASubstitution - Missense
SLC25A5ENSG00000005022ENST00000317881p.L111Fc.331C>TSubstitution - Missense
TDRD12ENSG00000173809ENST00000444215p.L89Pc.266T>CSubstitution - Missense
KCTD15ENSG00000153885ENST00000284006p.H16Hc.48C>TSubstitution - coding silent
SMC5ENSG00000198887ENST00000361138p.E934Ac.2801A>CSubstitution - Missense
CTTNENSG00000085733ENST00000376561p.A469Vc.1406C>TSubstitution - Missense
FAM160B1ENSG00000151553ENST00000369250p.T563fs*7c.1683delADeletion - Frameshift
TTC9CENSG00000162222ENST00000316461p.P57Lc.170C>TSubstitution - Missense
KDM2AENSG00000173120ENST00000529006p.S1075Ic.3224G>TSubstitution - Missense
ABCC8ENSG00000006071ENST00000389817p.R1352Hc.4055G>ASubstitution - Missense
KCNC1ENSG00000129159ENST00000379472p.Q372Qc.1116G>ASubstitution - coding silent
PTPRUENSG00000060656ENST00000460170p.G1051Gc.3153C>TSubstitution - coding silent
P2RX4ENSG00000135124ENST00000337233p.?c.884+7G>AUnknown
MLLT11ENSG00000213190ENST00000368921p.L89*c.266T>ASubstitution - Nonsense
DRGXENSG00000165606ENST00000434016p.D129Gc.386A>GSubstitution - Missense
LGR6ENSG00000133067ENST00000367278p.P889fs*11c.2662delCDeletion - Frameshift
PIH1D2ENSG00000150773ENST00000280350p.A23Ac.69T>ASubstitution - coding silent
CEP350ENSG00000135837ENST00000367607p.A1406Ac.4218T>CSubstitution - coding silent
FLRT2ENSG00000185070ENST00000330753p.D261Gc.782A>GSubstitution - Missense
SPINT1ENSG00000166145ENST00000344051p.D269Gc.806A>GSubstitution - Missense
KANSL1ENSG00000120071ENST00000262419p.L96Lc.286T>CSubstitution - coding silent
DNASE2BENSG00000137976ENST00000370662p.H97Rc.290A>GSubstitution - Missense
FMN1ENSG00000248905ENST00000334528p.D623Gc.1868A>GSubstitution - Missense
ABCA12ENSG00000144452ENST00000272895p.?c.6393+7T>CUnknown
UNC80ENSG00000144406ENST00000439458p.N2465Tc.7394A>CSubstitution - Missense
PRPF8ENSG00000174231ENST00000304992p.F81Lc.241T>CSubstitution - Missense
CAPSENSG00000105519ENST00000222125p.V140Ac.419T>CSubstitution - Missense
NCOA6ENSG00000198646ENST00000374796p.S19Pc.55T>CSubstitution - Missense
C20orf196ENSG00000171984ENST00000303142p.C24Gc.70T>GSubstitution - Missense
SOGA1ENSG00000149639ENST00000237536p.L656Rc.1967T>GSubstitution - Missense
ENST00000246798p.A1110Vc.3329C>TSubstitution - Missense
TNFRSF10DENSG00000173530ENST00000312584p.T192Pc.574A>CSubstitution - Missense
ENST00000291050p.A377Tc.1129G>ASubstitution - Missense
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
CSNK1DENSG00000141551ENST00000314028p.L252Pc.755T>CSubstitution - Missense
CARD14ENSG00000141527ENST00000573882p.C810Gc.2428T>GSubstitution - Missense
HELZENSG00000198265ENST00000358691p.G315Rc.943G>ASubstitution - Missense
MORC3ENSG00000159256ENST00000400485p.L374Pc.1121T>CSubstitution - Missense
ENST00000310075p.A533Tc.1597G>ASubstitution - Missense
MAPK4ENSG00000141639ENST00000400384p.D351Gc.1052A>GSubstitution - Missense
MFSD2BENSG00000205639ENST00000406420p.G426Gc.1278C>TSubstitution - coding silent
THAP4ENSG00000176946ENST00000407315p.N329Tc.986A>CSubstitution - Missense
ALS2CR11ENSG00000155754ENST00000450242p.M41Vc.121A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2063Tc.6189G>ASubstitution - coding silent
LCLAT1ENSG00000172954ENST00000309052p.G390Gc.1170A>TSubstitution - coding silent
ENST00000405167p.H989Dc.2965C>GSubstitution - Missense
RTEL1ENSG00000258366ENST00000318100p.?c.477+2T>CUnknown
TRANK1ENSG00000168016ENST00000301807p.A186fs*53c.556delGDeletion - Frameshift
NPAS2ENSG00000170485ENST00000335681p.?c.1629+5T>CUnknown
ENST00000318252p.G1533Gc.4599C>ASubstitution - coding silent
GPR56ENSG00000205336ENST00000379696p.?c.901-10A>GUnknown
POLR1BENSG00000125630ENST00000263331p.G862Gc.2586A>GSubstitution - coding silent
STX11ENSG00000135604ENST00000367568p.T138Ac.412A>GSubstitution - Missense
ADGBENSG00000118492ENST00000397944p.Y231Hc.691T>CSubstitution - Missense
ENST00000326929p.Y231Hc.691T>CSubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.K1379Nc.4137A>CSubstitution - Missense
POM121ENSG00000196313ENST00000395270p.S20Sc.60T>CSubstitution - coding silent
TREM2ENSG00000095970ENST00000373113p.G90Gc.270T>CSubstitution - coding silent
TREM2ENSG00000095970ENST00000338469p.G90Gc.270T>CSubstitution - coding silent
COL26A1ENSG00000160963ENST00000397927p.C89Gc.265T>GSubstitution - Missense
UPF1ENSG00000005007ENST00000262803p.K1014*c.3040A>TSubstitution - Nonsense
CCDC171ENSG00000164989ENST00000380701p.V22Ac.65T>CSubstitution - Missense
ZNF66ENSG00000160229ENST00000425625p.K385Nc.1155A>CSubstitution - Missense
BTBD9ENSG00000183826ENST00000403056p.Q477Qc.1431A>GSubstitution - coding silent
RNF8ENSG00000112130ENST00000373479p.?c.1038+2T>CUnknown
SBF1ENSG00000100241ENST00000380817p.T939Mc.2816C>TSubstitution - Missense
CCR2ENSG00000121807ENST00000292301p.V64Ac.191T>CSubstitution - Missense
CYLC1ENSG00000183035ENST00000329312p.E501Gc.1502A>GSubstitution - Missense
DCBLD1ENSG00000164465ENST00000296955p.L144fs*2c.426delTDeletion - Frameshift
ABCA9ENSG00000154258ENST00000340001p.V602Ic.1804G>ASubstitution - Missense
SLC16A6ENSG00000108932ENST00000327268p.R472Rc.1416A>GSubstitution - coding silent
PRKDCENSG00000253729ENST00000314191p.Y4038Cc.12113A>GSubstitution - Missense
ARHGEF26ENSG00000114790ENST00000465817p.R145Hc.434G>ASubstitution - Missense
DDX28ENSG00000182810ENST00000332395p.E31Ec.93A>GSubstitution - coding silent
GAB3ENSG00000160219ENST00000369575p.Y47Hc.139T>CSubstitution - Missense
CCDC146ENSG00000135205ENST00000285871p.K934Nc.2802A>CSubstitution - Missense
ARID1BENSG00000049618ENST00000346085p.G515Ac.1544G>CSubstitution - Missense
PARK2ENSG00000185345ENST00000366892p.G77fs*4c.228delADeletion - Frameshift
SH3BP4ENSG00000130147ENST00000344528p.T203Pc.607A>CSubstitution - Missense
ORC5ENSG00000164815ENST00000297431p.Y204Yc.612T>CSubstitution - coding silent
MUC17ENSG00000169876ENST00000306151p.T72Ac.214A>GSubstitution - Missense
FAM118AENSG00000100376ENST00000216214p.L69Lc.207G>CSubstitution - coding silent
RNF8ENSG00000112130ENST00000469731p.?c.1038+2T>CUnknown
HHATLENSG00000010282ENST00000310417p.I375Lc.1123A>CSubstitution - Missense
EYSENSG00000188107ENST00000370621p.G1134Gc.3402A>GSubstitution - coding silent
GPR98ENSG00000164199ENST00000405460p.H4500Rc.13499A>GSubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.G433Wc.1297G>TSubstitution - Missense
NM_133638.1p.M1Vc.1A>GSubstitution - Missense
ZNF462ENSG00000148143ENST00000457913p.C2316Cc.6948T>CSubstitution - coding silent
TRMT11ENSG00000066651ENST00000334379p.Y381Hc.1141T>CSubstitution - Missense
TLE4ENSG00000106829ENST00000376520p.D781Ac.2342A>CSubstitution - Missense
BCHEENSG00000114200ENST00000264381p.N501fs*10c.1502_1503insAInsertion - Frameshift
MECOMENSG00000085276ENST00000264674p.S680Nc.2039G>ASubstitution - Missense
HAVCR2ENSG00000135077ENST00000307851p.L245Pc.734T>CSubstitution - Missense
VNN1ENSG00000112299ENST00000367928p.D90Gc.269A>GSubstitution - Missense
DOCK4ENSG00000128512ENST00000437633p.?c.4135+7G>AUnknown
RRM2BENSG00000048392ENST00000251810p.S201Pc.601T>CSubstitution - Missense
ZNF280BENSG00000198477ENST00000360412p.K302Rc.905A>GSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
GPR112ENSG00000156920ENST00000394143p.G967Gc.2901T>CSubstitution - coding silent
APOMENSG00000204444ENST00000375916p.E184Ec.552G>ASubstitution - coding silent
PSG6ENSG00000170848ENST00000292125p.R312Qc.935G>ASubstitution - Missense
ZNF235ENSG00000159917ENST00000291182p.K65Rc.194A>GSubstitution - Missense
ENST00000400460p.R23Rc.69G>ASubstitution - coding silent
ENST00000373990p.K517Rc.1550A>GSubstitution - Missense
HBA2ENSG00000188536ENST00000251595p.L114Pc.341T>CSubstitution - Missense
METTL9ENSG00000197006ENST00000358154p.G252Gc.756T>CSubstitution - coding silent
ENST00000318560_v70p.H552Rc.1655A>GSubstitution - Missense
RTP2ENSG00000198471ENST00000358241p.L104Pc.311T>CSubstitution - Missense
ATP13A5ENSG00000187527ENST00000342358p.F414fs*4c.1241delTDeletion - Frameshift
FBXW11ENSG00000072803ENST00000265094p.L332Pc.995T>CSubstitution - Missense
PLEKHG5ENSG00000171680ENST00000537245p.L720Lc.2160A>TSubstitution - coding silent
COL16A1ENSG00000084636ENST00000271069p.?c.1257+3A>GUnknown
TMEM59ENSG00000116209ENST00000420738p.M4Vc.10A>GSubstitution - Missense
ANO6ENSG00000177119ENST00000441606p.?c.944+4A>CUnknown
CACNA1HENSG00000196557ENST00000348261p.V812Ac.2435T>CSubstitution - Missense
ITGB3ENSG00000259207ENST00000559488p.S173Sc.519T>CSubstitution - coding silent
MAGEB16ENSG00000189023ENST00000399992p.Y291Cc.872A>GSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.V216Mc.646G>ASubstitution - Missense
UNC13BENSG00000198722ENST00000378495p.H1026Rc.3077A>GSubstitution - Missense
CUL2ENSG00000108094ENST00000374751p.N292fs*20c.875delADeletion - Frameshift
RABGAP1ENSG00000011454ENST00000373647p.N930fs*15c.2782delADeletion - Frameshift
PARP15ENSG00000173200ENST00000464300p.D458Nc.1372G>ASubstitution - Missense
NAA25ENSG00000111300ENST00000261745p.Y115Nc.343T>ASubstitution - Missense
NRP1ENSG00000099250ENST00000265371p.G572Vc.1715G>TSubstitution - Missense
COG6ENSG00000133103ENST00000455146p.T486Ac.1456A>GSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.A3089Tc.9265G>ASubstitution - Missense
VWCEENSG00000167992ENST00000335613p.A95Vc.284C>TSubstitution - Missense
RBM23ENSG00000100461ENST00000359890p.Y306Yc.918T>CSubstitution - coding silent
HNRNPCENSG00000092199ENST00000320084p.Y105Cc.314A>GSubstitution - Missense
OR4N2ENSG00000176294ENST00000315947p.L209Pc.626T>CSubstitution - Missense
SORCS1ENSG00000108018ENST00000263054p.H1085Lc.3254A>TSubstitution - Missense
NHLRC2ENSG00000196865ENST00000369301p.S346Sc.1038A>GSubstitution - coding silent
EIF5BENSG00000158417ENST00000289371p.N203fs*10c.601delADeletion - Frameshift
ATXN2ENSG00000204842ENST00000377617p.T672Ac.2014A>GSubstitution - Missense
ENST00000345581p.?c.333+9A>CUnknown
PARD3ENSG00000148498ENST00000374789p.S1265Pc.3793T>CSubstitution - Missense
SORBS1ENSG00000095637ENST00000371245p.E402fs*7c.1206delADeletion - Frameshift
CD163ENSG00000177575ENST00000359156p.G244Gc.732A>GSubstitution - coding silent
IFI16ENSG00000163565ENST00000295809p.Q408Pc.1223A>CSubstitution - Missense
OR4Q3ENSG00000182652ENST00000331723p.N129Kc.387C>ASubstitution - Missense
ENST00000300053p.W32Rc.94T>CSubstitution - Missense
AGBL1ENSG00000166748ENST00000421325p.H675Pc.2024A>CSubstitution - Missense
CTTNENSG00000085733ENST00000301843p.A506Vc.1517C>TSubstitution - Missense
TEX30ENSG00000151287ENST00000376032p.N191Dc.571A>GSubstitution - Missense
CHD8ENSG00000100888ENST00000430710p.M2154Vc.6460A>GSubstitution - Missense
ANO6ENSG00000177119ENST00000425752p.?c.998+4A>CUnknown
XPNPEP1ENSG00000108039ENST00000369680p.R158Rc.474T>GSubstitution - coding silent
ZBTB18ENSG00000179456ENST00000358704p.T215Tc.645A>CSubstitution - coding silent
UPF2ENSG00000151461ENST00000356352p.M678Vc.2032A>GSubstitution - Missense
ZNF365ENSG00000138311ENST00000395255p.R162Sc.486A>CSubstitution - Missense
STOX1ENSG00000165730ENST00000399169p.K520Nc.1560A>CSubstitution - Missense
ABCC8ENSG00000006071ENST00000389817p.P792Pc.2376C>GSubstitution - coding silent
DCAF8ENSG00000132716ENST00000326837p.S580Sc.1740A>GSubstitution - coding silent
HDAC1ENSG00000116478ENST00000373548p.D210Gc.629A>GSubstitution - Missense
PI4KBENSG00000143393ENST00000368875p.R100Hc.299G>ASubstitution - Missense
KMT2AENSG00000118058ENST00000534358p.P3057Pc.9171T>CSubstitution - coding silent
NUMBENSG00000133961ENST00000555238p.F576Lc.1726T>CSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.V812Ac.2435T>CSubstitution - Missense
NBPF14ENSG00000122497ENST00000310701p.?c.1980+1G>TUnknown
PLXDC2ENSG00000120594ENST00000377252p.?c.883+3A>GUnknown
DDX6ENSG00000110367ENST00000264018p.L78Rc.233T>GSubstitution - Missense
SPAG6ENSG00000077327ENST00000376603p.A106Ac.318G>CSubstitution - coding silent
DHX37ENSG00000150990ENST00000308736p.?c.2264+4A>CUnknown
LCE2CENSG00000187180ENST00000368783p.P39Pc.117A>GSubstitution - coding silent
CTSCENSG00000109861ENST00000227266p.T391Tc.1173T>CSubstitution - coding silent
EIF2B1ENSG00000111361ENST00000424014p.?c.483-2A>GUnknown
ENST00000280576p.I2570Sc.7709T>GSubstitution - Missense
ANKDD1AENSG00000166839ENST00000380230p.?c.1065+2T>CUnknown
BAZ1AENSG00000198604ENST00000382422p.?c.1128+7A>GUnknown
NM_018993.2p.P382Sc.1144C>TSubstitution - Missense
MAP3K6ENSG00000142733ENST00000374040p.N614Sc.1841A>GSubstitution - Missense
MLLT1ENSG00000130382ENST00000252674p.?c.1551+6G>AUnknown
HCN2ENSG00000099822ENST00000251287p.Y645Cc.1934A>GSubstitution - Missense
SIGLEC7ENSG00000168995ENST00000317643p.L108Pc.323T>CSubstitution - Missense
ZNF782ENSG00000196597ENST00000481138p.P153Pc.459A>GSubstitution - coding silent
LRRC48ENSG00000171962ENST00000411504p.?c.999+3A>GUnknown
GLIS3ENSG00000107249ENST00000381971p.Q817Hc.2451A>CSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.S1002Sc.3006C>ASubstitution - coding silent
KIF24ENSG00000186638ENST00000402558p.S196Sc.588A>GSubstitution - coding silent
ZNF724PENSG00000196081ENST00000418100p.R317Rc.951A>GSubstitution - coding silent
NM_001831.2p.R190Cc.568C>TSubstitution - Missense
ADAM7ENSG00000069206ENST00000175238p.M390Tc.1169T>CSubstitution - Missense
NM_015461.1p.C1288Cc.3864T>CSubstitution - coding silent
HGSENSG00000185359ENST00000329138p.V439Mc.1315G>ASubstitution - Missense
TSTD2ENSG00000136925ENST00000341170p.?c.836-6T>GUnknown
FRYLENSG00000075539ENST00000503238p.N1399fs*2c.4196delADeletion - Frameshift
C16orf71ENSG00000166246ENST00000299320p.C429Rc.1285T>CSubstitution - Missense
DCDC2ENSG00000146038ENST00000378454p.?c.759+2T>CUnknown
PCNTENSG00000160299ENST00000359568p.V2055Vc.6165A>GSubstitution - coding silent
GREB1LENSG00000141449ENST00000424526p.S1363Rc.4089T>GSubstitution - Missense
TBC1D10AENSG00000099992ENST00000215790p.V74Vc.222A>GSubstitution - coding silent
ATP2B2ENSG00000157087ENST00000360273p.G133Gc.399A>GSubstitution - coding silent
DZIP3ENSG00000198919ENST00000361582p.?c.32+2T>CUnknown
PLA2G3ENSG00000100078ENST00000215885p.S46Rc.136A>CSubstitution - Missense
MFSD9ENSG00000135953ENST00000258436p.S443fs*6c.1326delCDeletion - Frameshift
ENST00000342088p.H230Rc.689A>GSubstitution - Missense
ENST00000330917p.W250Rc.748T>CSubstitution - Missense
IAH1ENSG00000134330ENST00000497473p.Y117Cc.350A>GSubstitution - Missense
CCDC36ENSG00000173421ENST00000438782p.D187Gc.560A>GSubstitution - Missense
NLRP2ENSG00000022556ENST00000543010p.A773Vc.2318C>TSubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.P52Pc.156A>GSubstitution - coding silent
CASP8ENSG00000064012ENST00000358485p.?c.979+7T>CUnknown
COX5BENSG00000135940ENST00000258424p.V37Vc.111T>CSubstitution - coding silent
NDUFB3ENSG00000119013ENST00000237889p.K39Nc.117A>CSubstitution - Missense
CNOT3ENSG00000088038ENST00000358389p.S64fs*8c.189_190insCInsertion - Frameshift
LILRB5ENSG00000105609ENST00000316219p.?c.1535+4A>GUnknown
COL20A1ENSG00000101203ENST00000358894p.T1009Ac.3025A>GSubstitution - Missense
SLC10A6ENSG00000145283ENST00000273905p.L260Sc.779T>CSubstitution - Missense
COL25A1ENSG00000188517ENST00000399132p.F174Vc.520T>GSubstitution - Missense
HGSNATENSG00000165102ENST00000458501p.?c.577+3A>GUnknown
ENST00000405167p.P2258Lc.6773C>TSubstitution - Missense
ZDHHC19ENSG00000163958ENST00000296326p.L233Rc.698T>GSubstitution - Missense
ENST00000543338p.T72Ac.214A>GSubstitution - Missense
ZNF776ENSG00000152443ENST00000317178p.S118Ac.352T>GSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.H90Rc.269A>GSubstitution - Missense
MEI1ENSG00000167077ENST00000300398p.Y1188Cc.3563A>GSubstitution - Missense
SH2B1ENSG00000178188ENST00000337120p.E584*c.1750G>TSubstitution - Nonsense
DHX34ENSG00000134815ENST00000328771p.V294Ac.881T>CSubstitution - Missense
STARD8ENSG00000130052ENST00000252336p.V289Gc.866T>GSubstitution - Missense
PHKA1ENSG00000067177ENST00000373542p.R971Qc.2912G>ASubstitution - Missense
SH2B1ENSG00000178188ENST00000322610p.E583Dc.1749G>TSubstitution - Missense
KAL1ENSG00000011201ENST00000262648p.S73Sc.219C>TSubstitution - coding silent
NBEAL2ENSG00000160796ENST00000450053p.L2677Pc.8030T>CSubstitution - Missense
ARIH2ENSG00000177479ENST00000356401p.V247Ac.740T>CSubstitution - Missense
CEP85LENSG00000111860ENST00000368488p.K554fs*16c.1662delADeletion - Frameshift
F11ENSG00000088926ENST00000403665p.?c.1577-4T>CUnknown
CSMD3ENSG00000164796ENST00000297405p.V924Gc.2771T>GSubstitution - Missense
TLE4ENSG00000106829ENST00000376552p.D749Ac.2246A>CSubstitution - Missense
MED22ENSG00000148297ENST00000343730p.C112Cc.336C>TSubstitution - coding silent
PRIMPOLENSG00000164306ENST00000314970p.R76Rc.228T>ASubstitution - coding silent
UBE2BENSG00000119048ENST00000265339p.V145Ac.434T>CSubstitution - Missense
PTPRKENSG00000152894ENST00000368226p.?c.3096+6T>CUnknown
GALNTL5ENSG00000106648ENST00000392800p.S137Sc.411C>TSubstitution - coding silent
HLA-AENSG00000206503ENST00000396634p.D207Ac.620A>CSubstitution - Missense
CABIN1ENSG00000099991ENST00000398319p.?c.3938+10A>GUnknown
CYP4F12ENSG00000186204ENST00000324632p.S314Pc.940T>CSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.T251Tc.753A>GSubstitution - coding silent
ITGA2ENSG00000164171ENST00000296585p.?c.1603-2A>GUnknown
SKIV2LENSG00000204351ENST00000375394p.L856Lc.2566T>CSubstitution - coding silent
FAM193BENSG00000146067ENST00000443375p.E698Vc.2093A>TSubstitution - Missense
GRM4ENSG00000124493ENST00000374181p.T808Tc.2424C>ASubstitution - coding silent
CNTRLENSG00000119397ENST00000373855p.K507Rc.1520A>GSubstitution - Missense
SPTAN1ENSG00000197694ENST00000372739p.S1568Nc.4703G>ASubstitution - Missense
DCTN2ENSG00000175203ENST00000543672p.T103Tc.309A>GSubstitution - coding silent
PRG3ENSG00000156575ENST00000287143p.E28Gc.83A>GSubstitution - Missense
MYPNENSG00000138347ENST00000373675p.D120Dc.360T>CSubstitution - coding silent
ENST00000446546p.?c.616+4A>GUnknown
ATP13A2ENSG00000159363ENST00000341676p.K422Tc.1265A>CSubstitution - Missense
SEMA6CENSG00000143434ENST00000368913p.L503Pc.1508T>CSubstitution - Missense
F11ENSG00000088926ENST00000264692p.?c.1421-4T>CUnknown
LGR6ENSG00000133067ENST00000255432p.P837fs*11c.2506delCDeletion - Frameshift
MCM8ENSG00000125885ENST00000378886p.K101fs*15c.299delADeletion - Frameshift
HMHA1ENSG00000180448ENST00000536472p.F399Fc.1197T>CSubstitution - coding silent
HSPA4LENSG00000164070ENST00000439123p.?c.2139+2T>CUnknown
TENM2ENSG00000145934ENST00000545108p.Y2021Dc.6061T>GSubstitution - Missense
XYLT2ENSG00000015532ENST00000017003p.G529fs*78c.1578delCDeletion - Frameshift
LEF1ENSG00000138795ENST00000510624p.P206Lc.617C>TSubstitution - Missense
ITGA8ENSG00000077943ENST00000378076p.V168Ac.503T>CSubstitution - Missense
CAPN5ENSG00000149260ENST00000278559p.G267Sc.799G>ASubstitution - Missense
ACOT7ENSG00000097021ENST00000377845p.R334Wc.1000C>TSubstitution - Missense
NEK8ENSG00000160602ENST00000268766p.?c.1223-10T>CUnknown
COASYENSG00000068120ENST00000590958p.V515Gc.1544T>GSubstitution - Missense
PHF14ENSG00000106443ENST00000403050p.N734Sc.2201A>GSubstitution - Missense
CLCNKBENSG00000184908ENST00000375679p.L387Lc.1161G>TSubstitution - coding silent
KPNA1ENSG00000114030ENST00000344337p.R137Qc.410G>ASubstitution - Missense
MAGI1ENSG00000151276ENST00000402939p.D524Gc.1571A>GSubstitution - Missense
CELSR2ENSG00000143126ENST00000271332p.P2677Tc.8029C>ASubstitution - Missense
PCDHB13ENSG00000187372ENST00000341948p.K306fs*30c.912delADeletion - Frameshift
KLBENSG00000134962ENST00000257408p.H303Rc.908A>GSubstitution - Missense
PPP6R3ENSG00000110075ENST00000393801p.L423Sc.1268T>CSubstitution - Missense
SHMT2ENSG00000182199ENST00000328923p.Y3Hc.7T>CSubstitution - Missense
SLCO6A1ENSG00000205359ENST00000379807p.A6Tc.16G>ASubstitution - Missense
UBAC2ENSG00000134882ENST00000376440p.V20Ac.59T>CSubstitution - Missense
UBE3BENSG00000151148ENST00000434735p.K974Tc.2921A>CSubstitution - Missense
USP54ENSG00000166348ENST00000408019p.A1133Ac.3399T>CSubstitution - coding silent
TENC1ENSG00000111077ENST00000314250p.E405Ac.1214A>CSubstitution - Missense
DGKHENSG00000102780ENST00000337343p.E667Gc.2000A>GSubstitution - Missense
MARSENSG00000166986ENST00000262027p.S579Gc.1735A>GSubstitution - Missense
FOXJ2ENSG00000065970ENST00000162391p.A220Tc.658G>ASubstitution - Missense
PTPRJENSG00000149177ENST00000418331p.A664Ac.1992T>CSubstitution - coding silent
R3HCC1LENSG00000166024ENST00000298999p.N294Nc.882T>CSubstitution - coding silent
ZSWIM8ENSG00000214655ENST00000398706p.?c.362+4A>GUnknown
TFCP2ENSG00000135457ENST00000257915p.N311Sc.932A>GSubstitution - Missense
GNPATENSG00000116906ENST00000366647p.F268fs*31c.799delTDeletion - Frameshift
KDM5AENSG00000073614ENST00000399788p.S156Pc.466T>CSubstitution - Missense
PPP6R3ENSG00000110075ENST00000529710p.L464Pc.1391T>CSubstitution - Missense
LTA4HENSG00000111144ENST00000413268p.P97Pc.291T>CSubstitution - coding silent
P4HA1ENSG00000122884ENST00000412021p.D105Dc.315T>CSubstitution - coding silent
ENST00000398860p.V1007Ac.3020T>CSubstitution - Missense
CDH23ENSG00000107736ENST00000461841p.T468Ac.1402A>GSubstitution - Missense
GOLGA6L2ENSG00000174450ENST00000567107p.T157fs*46c.469delADeletion - Frameshift
RHBDL2ENSG00000158315ENST00000289248p.V45Ac.134T>CSubstitution - Missense
KCNQ4ENSG00000117013ENST00000347132p.?c.405+7G>AUnknown
APBB1IPENSG00000077420ENST00000376236p.?c.73-6T>CUnknown
ARHGEF12ENSG00000196914ENST00000397843p.V108Ac.323T>CSubstitution - Missense
ZC3H12CENSG00000149289ENST00000278590p.D335Ac.1004A>CSubstitution - Missense
BACE1ENSG00000186318ENST00000313005p.Y245Hc.733T>CSubstitution - Missense
ANGEL1ENSG00000013523ENST00000251089p.V142Ac.425T>CSubstitution - Missense
TMPRSS5ENSG00000166682ENST00000299882p.G407fs*3c.1220delGDeletion - Frameshift
KCND3ENSG00000171385ENST00000315987p.D115Gc.344A>GSubstitution - Missense
MLLT10ENSG00000078403ENST00000307729p.F374Yc.1121T>ASubstitution - Missense
TRIM49ENSG00000168930ENST00000329758p.S440Pc.1318T>CSubstitution - Missense
KPRPENSG00000203786ENST00000368773p.R405fs*10c.1213delCDeletion - Frameshift
CHST14ENSG00000169105ENST00000306243p.L310Pc.929T>CSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.K318Kc.954G>ASubstitution - coding silent
ANKDD1AENSG00000166839ENST00000380230p.D149Ec.447T>GSubstitution - Missense
RPL4ENSG00000174444ENST00000307961p.A369Vc.1106C>TSubstitution - Missense
TMEM260ENSG00000070269ENST00000261556p.W247Gc.739T>GSubstitution - Missense
SEPN1ENSG00000162430ENST00000361547p.D80Gc.239A>GSubstitution - Missense
CPS1ENSG00000021826ENST00000430249p.?c.639+9T>GUnknown
ZNF812ENSG00000224689ENST00000457674p.A154Ac.462A>GSubstitution - coding silent
GP1BAENSG00000185245ENST00000329125p.L213_P214insLc.632_633insCCTInsertion - In frame
RIN2ENSG00000132669ENST00000255006p.P431Sc.1291C>TSubstitution - Missense
OTTHUMT00000057903.1p.N24Tc.71A>CSubstitution - Missense
ERICH1ENSG00000104714ENST00000262109p.D99Ac.296A>CSubstitution - Missense
PCMTD1ENSG00000168300ENST00000360540p.Q294*c.880C>TSubstitution - Nonsense
NUP62ENSG00000213024ENST00000352066p.F16Lc.46T>CSubstitution - Missense
SERPINF1ENSG00000132386ENST00000254722p.I180Tc.539T>CSubstitution - Missense
SMCR8ENSG00000176994ENST00000406438p.Y256Cc.767A>GSubstitution - Missense
TMC6ENSG00000141524ENST00000322914p.V503Ac.1508T>CSubstitution - Missense
LINGO2ENSG00000174482ENST00000379992p.Y581Cc.1742A>GSubstitution - Missense
LZTS1ENSG00000061337ENST00000381569p.A276Tc.826G>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.I1413Tc.4238T>CSubstitution - Missense
ZNF341ENSG00000131061ENST00000342427p.?c.1007+3A>GUnknown
SOS2ENSG00000100485ENST00000216373p.F305Lc.913T>CSubstitution - Missense
CACNA1SENSG00000081248ENST00000362061p.?c.258+10G>AUnknown
OR2M7ENSG00000177186ENST00000317965p.T53Ic.158C>TSubstitution - Missense
DYNC1H1ENSG00000197102ENST00000360184p.L2933Lc.8797T>CSubstitution - coding silent
SPATA13ENSG00000182957ENST00000382108p.R74Rc.222C>TSubstitution - coding silent
USP33ENSG00000077254ENST00000370793p.S671Sc.2013T>CSubstitution - coding silent
NM_014363.3p.K3841Nc.11523A>CSubstitution - Missense
CPS1ENSG00000021826ENST00000430249p.?c.2586+6A>TUnknown
MAFENSG00000178573ENST00000326043p.S15Sc.45T>CSubstitution - coding silent
ENST00000393466p.K1389fs*46c.4164delADeletion - Frameshift
ENST00000226258p.L289Pc.866T>CSubstitution - Missense
ZNF726ENSG00000213967ENST00000322487p.K118Nc.354A>TSubstitution - Missense
ENST00000318252p.C3004Cc.9012C>TSubstitution - coding silent
GDF5ENSG00000125965ENST00000374369p.L353Qc.1058T>ASubstitution - Missense
DSC2ENSG00000134755ENST00000280904p.R174Rc.520A>CSubstitution - coding silent
NOD2ENSG00000167207ENST00000300589p.E150Gc.449A>GSubstitution - Missense
IRX5ENSG00000176842ENST00000394636p.G353Gc.1059G>ASubstitution - coding silent
EIF2AK3ENSG00000172071ENST00000303236p.A422Vc.1265C>TSubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.E1581Gc.4742A>GSubstitution - Missense
CBSENSG00000160200ENST00000398168p.S349Sc.1047T>CSubstitution - coding silent
CCDC36ENSG00000173421ENST00000296449p.S16Sc.48A>GSubstitution - coding silent
KLHL5ENSG00000109790ENST00000504108p.T736Ac.2206A>GSubstitution - Missense
PRDM14ENSG00000147596ENST00000276594p.G513Wc.1537G>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.L24575Vc.73723T>GSubstitution - Missense
HOXD9ENSG00000128709ENST00000249499p.D13Gc.38A>GSubstitution - Missense
ANKRD30BENSG00000180777ENST00000358984p.?c.2059-10A>CUnknown
CDK10ENSG00000185324ENST00000353379p.H341Rc.1022A>GSubstitution - Missense
CFLARENSG00000003402ENST00000340870p.L431Pc.1292T>CSubstitution - Missense
PPP1R7ENSG00000115685ENST00000407025p.V96Ac.287T>CSubstitution - Missense
MFSD2BENSG00000205639ENST00000406420p.G426Gc.1278C>TSubstitution - coding silent
WDR43ENSG00000163811ENST00000296126p.?c.1215+10T>GUnknown
SLCO4A1ENSG00000101187ENST00000370507p.Y427Cc.1280A>GSubstitution - Missense
C2orf16ENSG00000221843ENST00000408964p.T1379Ac.4135A>GSubstitution - Missense
BRPF1ENSG00000156983ENST00000383829p.Y994Cc.2981A>GSubstitution - Missense
UBXN7ENSG00000163960ENST00000296328p.R185Rc.555C>TSubstitution - coding silent
RIBC1ENSG00000158423ENST00000375327p.Y126Cc.377A>GSubstitution - Missense
ZNF879ENSG00000234284ENST00000444149p.T255Tc.765A>TSubstitution - coding silent
SLCO4C1ENSG00000173930ENST00000310954p.Y199Hc.595T>CSubstitution - Missense
NOD1ENSG00000106100ENST00000222823p.F86Sc.257T>CSubstitution - Missense
ENST00000328380p.L648Lc.1944C>TSubstitution - coding silent
NYAP2ENSG00000144460ENST00000272907p.D237Gc.710A>GSubstitution - Missense
GAB1ENSG00000109458ENST00000262995p.T503Pc.1507A>CSubstitution - Missense
COPB2ENSG00000184432ENST00000333188p.S764Gc.2290A>GSubstitution - Missense
MAPK3ENSG00000102882ENST00000263025p.P40Pc.120G>TSubstitution - coding silent
BTBD9ENSG00000183826ENST00000314100p.Q409Qc.1227A>GSubstitution - coding silent
NBEAL2ENSG00000160796ENST00000292309p.L2054Pc.6161T>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.S2487Pc.7459T>CSubstitution - Missense
CACNA1GENSG00000006283ENST00000354983p.T312Ac.934A>GSubstitution - Missense
DGKEENSG00000153933ENST00000284061p.D251Gc.752A>GSubstitution - Missense
GUCY1A3ENSG00000164116ENST00000296518p.S280Pc.838T>CSubstitution - Missense
VPS13AENSG00000197969ENST00000376634p.S1752fs*10c.5250delTDeletion - Frameshift
COASYENSG00000068120ENST00000393818p.V486Gc.1457T>GSubstitution - Missense
PNMA5ENSG00000198883ENST00000361887p.S104Gc.310A>GSubstitution - Missense
NM_001007157.1p.N945fs*>5c.2834_2835insAInsertion - Frameshift
SLC4A10ENSG00000144290ENST00000375514p.S929Pc.2785T>CSubstitution - Missense
TAP1ENSG00000168394ENST00000354258p.L395Rc.1184T>GSubstitution - Missense
LPHN1ENSG00000072071ENST00000340736p.N209Tc.626A>CSubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.C408Cc.1224C>TSubstitution - coding silent
NOTCH3ENSG00000074181ENST00000263388p.D1864Gc.5591A>GSubstitution - Missense
CD1EENSG00000158488ENST00000434258p.Y140Hc.418T>CSubstitution - Missense
COG6ENSG00000133103ENST00000416691p.T486Ac.1456A>GSubstitution - Missense
ESYT1ENSG00000139641ENST00000541590p.L1043Pc.3128T>CSubstitution - Missense
ENST00000204005_v70p.Y1404Cc.4211A>GSubstitution - Missense
CAPN3ENSG00000092529ENST00000318023p.R197Hc.590G>ASubstitution - Missense
RHOT1ENSG00000126858ENST00000358365p.L68Lc.204T>CSubstitution - coding silent
PTPRKENSG00000152894ENST00000368226p.D1002Dc.3006T>CSubstitution - coding silent
MANEAENSG00000172469ENST00000358812p.S285Pc.853T>CSubstitution - Missense
ZNF792ENSG00000180884ENST00000404801p.V230Ac.689T>CSubstitution - Missense
ZNF573ENSG00000189144ENST00000339503p.A252Vc.755C>TSubstitution - Missense
ZNF850ENSG00000267041ENST00000591344p.E761Gc.2282A>GSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.T249Tc.747T>GSubstitution - coding silent
EXOSC5ENSG00000077348ENST00000221233p.Y224Cc.671A>GSubstitution - Missense
ATP11CENSG00000101974ENST00000361648p.H875Pc.2624A>CSubstitution - Missense
FIP1L1ENSG00000145216ENST00000337488p.?c.1285+6T>CUnknown
SLC4A10ENSG00000144290ENST00000446997p.S948Pc.2842T>CSubstitution - Missense
TGFB1ENSG00000105329ENST00000221930p.H276fs*107c.825delGDeletion - Frameshift
CHERPENSG00000085872ENST00000546361p.F310Lc.928T>CSubstitution - Missense
ZMYND8ENSG00000101040ENST00000536340p.I252Vc.754A>GSubstitution - Missense
PLA2G7ENSG00000146070ENST00000274793p.I267fs*1c.799delADeletion - Frameshift
ITPR3ENSG00000096433ENST00000374316p.Y1901Hc.5701T>CSubstitution - Missense
PKHD1ENSG00000170927ENST00000340994p.?c.6122-9C>TUnknown
PSMB9ENSG00000240065ENST00000374859p.?c.532+2T>CUnknown
HLA-DPB1ENSG00000223865ENST00000428835p.?c.48+2T>CUnknown
UBR3ENSG00000144357ENST00000418381p.Y638Yc.1914T>CSubstitution - coding silent
KNG1ENSG00000113889ENST00000287611p.E24Gc.71A>GSubstitution - Missense
KNG1ENSG00000113889ENST00000265023p.E633Dc.1899A>TSubstitution - Missense
FPGSENSG00000136877ENST00000373247p.P291fs*3c.865delGDeletion - Frameshift
RARSENSG00000113643ENST00000231572p.I19Vc.55A>GSubstitution - Missense
BICC1ENSG00000122870ENST00000263103p.G291Gc.873C>GSubstitution - coding silent
AGLENSG00000162688ENST00000361522p.W1503Rc.4507T>CSubstitution - Missense
CACNA1HENSG00000196557ENST00000348261p.?c.1120-3_1120-2insCUnknown
PLCXD2ENSG00000240891ENST00000477665p.E182Gc.545A>GSubstitution - Missense
TRPM6ENSG00000119121ENST00000449912p.I1720Tc.5159T>CSubstitution - Missense
ENST00000354576p.K42Nc.126A>CSubstitution - Missense
MYO10ENSG00000145555ENST00000513610p.N1826Tc.5477A>CSubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.G387Sc.1159G>ASubstitution - Missense
MNX1ENSG00000130675ENST00000543409p.Q93Rc.278A>GSubstitution - Missense
NM_022824.1p.R216*c.646C>TSubstitution - Nonsense
TRPS1ENSG00000104447ENST00000395715p.N1289fs*>6c.3866delADeletion - Frameshift
B3GALTLENSG00000187676ENST00000343307p.S80fs*3c.231delADeletion - Frameshift
BZW1ENSG00000082153ENST00000452790p.N317fs*11c.943delADeletion - Frameshift
B4GALNT2ENSG00000167080ENST00000300404p.R344*c.1030C>TSubstitution - Nonsense
FASTKD3ENSG00000124279ENST00000264669p.K143fs*36c.428delADeletion - Frameshift
MIXL1ENSG00000185155ENST00000366810p.L100Rc.299T>GSubstitution - Missense
ENST00000377560_v62p.T2992Mc.8975C>TSubstitution - Missense
TAS2R13ENSG00000212128ENST00000390677p.V261Ac.782T>CSubstitution - Missense
MIA3ENSG00000154305ENST00000344922p.N505Ic.1514A>TSubstitution - Missense
SYNPO2LENSG00000166317ENST00000394810p.S127Gc.379A>GSubstitution - Missense
KAT6BENSG00000156650ENST00000287239p.R173Rc.519G>ASubstitution - coding silent
C1QL4ENSG00000186897ENST00000334221p.V125Ac.374T>CSubstitution - Missense
CDC42BPBENSG00000198752ENST00000361246p.L729Pc.2186T>CSubstitution - Missense
KIAA0319LENSG00000142687ENST00000325722p.L880Vc.2638T>GSubstitution - Missense
SBF2ENSG00000133812ENST00000256190p.A1218Tc.3652G>ASubstitution - Missense
FRMD5ENSG00000171877ENST00000417257p.P101Pc.303T>CSubstitution - coding silent
NM_139155.1p.I304Ic.912A>CSubstitution - coding silent
FCGR3AENSG00000203747ENST00000367969p.V140Vc.420C>ASubstitution - coding silent
WDR66ENSG00000158023ENST00000288912p.D1089Gc.3266A>GSubstitution - Missense
DENND2CENSG00000175984ENST00000393276p.F769fs*5c.2307delTDeletion - Frameshift
FAM63AENSG00000143409ENST00000361936p.A430Ac.1290G>ASubstitution - coding silent
PCDH15ENSG00000150275ENST00000361849p.V809Gc.2426T>GSubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.V814Gc.2441T>GSubstitution - Missense
ENST00000395293p.V472Ac.1415T>CSubstitution - Missense
GPR158ENSG00000151025ENST00000376351p.S753Pc.2257T>CSubstitution - Missense
SLC25A24ENSG00000085491ENST00000370041p.F273Lc.817T>CSubstitution - Missense
KIAA0430ENSG00000166783ENST00000396368p.T1500Ac.4498A>GSubstitution - Missense
PCF11ENSG00000165494ENST00000298281p.H720Hc.2160T>CSubstitution - coding silent
ENST00000298047_v61p.V284Lc.850G>CSubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.N313Sc.938A>GSubstitution - Missense
NBPF14ENSG00000122497ENST00000369219p.?c.1963+1G>TUnknown
KIAA0430ENSG00000166783ENST00000344181p.T1183Ac.3547A>GSubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.N313Sc.938A>GSubstitution - Missense
TRIM58ENSG00000162722ENST00000366481p.D321Gc.962A>GSubstitution - Missense
ADAMTS17ENSG00000140470ENST00000268070p.?c.1889-2A>GUnknown
C14orf28ENSG00000179476ENST00000325192p.G255Gc.765T>CSubstitution - coding silent
MCF2LENSG00000126217ENST00000375601p.F157Lc.469T>CSubstitution - Missense
PGBD4ENSG00000182405ENST00000397766p.P259Sc.775C>TSubstitution - Missense
CHST6ENSG00000183196ENST00000390664p.F158Lc.472T>CSubstitution - Missense
RAD51ENSG00000051180ENST00000267868p.E50Dc.150G>TSubstitution - Missense
ARID4AENSG00000032219ENST00000355431p.K1086Mc.3257A>TSubstitution - Missense
PKD1L2ENSG00000166473ENST00000525539p.S1554Pc.4660T>CSubstitution - Missense
L1TD1ENSG00000240563ENST00000498273p.E416Ec.1248A>GSubstitution - coding silent
MAP3K6ENSG00000142733ENST00000493901p.Q521Rc.1562A>GSubstitution - Missense
TASP1ENSG00000089123ENST00000337743p.E4Vc.11A>TSubstitution - Missense
ACOX1ENSG00000161533ENST00000293217p.M39Tc.116T>CSubstitution - Missense
DCAF12L2ENSG00000198354ENST00000538699p.L51Rc.152T>GSubstitution - Missense
TDRD15ENSG00000218819ENST00000405799p.G380Gc.1140A>GSubstitution - coding silent
PCNAENSG00000132646ENST00000379143p.E143Ec.429A>GSubstitution - coding silent
SOGA1ENSG00000149639ENST00000279034p.L418Rc.1253T>GSubstitution - Missense
TRIM16ENSG00000221926ENST00000578237p.E221fs*6c.663delADeletion - Frameshift
KIAA1045ENSG00000122733ENST00000242315p.D256Vc.767A>TSubstitution - Missense
NFX1ENSG00000086102ENST00000379540p.S677Sc.2031T>CSubstitution - coding silent
KIAA1755ENSG00000149633ENST00000279024p.N164Sc.491A>GSubstitution - Missense
GOSR1ENSG00000108587ENST00000225724p.A127Tc.379G>ASubstitution - Missense
TRPM3ENSG00000083067ENST00000377106p.G706Gc.2118A>GSubstitution - coding silent
SNRNP200ENSG00000144028ENST00000323853p.T597Ac.1789A>GSubstitution - Missense
FAHD2BENSG00000144199ENST00000272610p.V52Gc.155T>GSubstitution - Missense
SMARCA4ENSG00000127616ENST00000358026p.C891Wc.2673C>GSubstitution - Missense
ALDH5A1ENSG00000112294ENST00000348925p.P458Pc.1374A>CSubstitution - coding silent
GBE1ENSG00000114480ENST00000429644p.V213Ac.638T>CSubstitution - Missense
GNL3ENSG00000163938ENST00000418458p.?c.1187+2T>CUnknown
CCDC36ENSG00000173421ENST00000296449p.D187Gc.560A>GSubstitution - Missense
NM_003319p.V20748Ac.62243T>CSubstitution - Missense
ZNF600ENSG00000189190ENST00000360272p.Q163Qc.489A>GSubstitution - coding silent
ALS2CR11ENSG00000155754ENST00000439140p.M41Vc.121A>GSubstitution - Missense
PUM2ENSG00000055917ENST00000338086p.Q392Pc.1175A>CSubstitution - Missense
PDE11AENSG00000128655ENST00000286063p.?c.2245-7A>GUnknown
TTNENSG00000155657ENST00000359218p.I9906Tc.29717T>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T1566Sc.4696A>TSubstitution - Missense
PPM1KENSG00000163644ENST00000295908p.K85Tc.254A>CSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.G1804Gc.5412C>ASubstitution - coding silent
KIAA1244ENSG00000112379ENST00000251691p.R1514Qc.4541G>ASubstitution - Missense
ENST00000273083p.Q221Rc.662A>GSubstitution - Missense
ENST00000319955p.N146Nc.438C>TSubstitution - coding silent
ALMS1ENSG00000116127ENST00000264448p.C336Wc.1008T>GSubstitution - Missense
FBXO5ENSG00000112029ENST00000229758p.K283Tc.848A>CSubstitution - Missense
NM_012294.2p.L27Lc.81G>ASubstitution - coding silent
LRIT3ENSG00000183423ENST00000379920p.C508Gc.1522T>GSubstitution - Missense
ENST00000330166p.L3216Pc.9647T>CSubstitution - Missense
FTHL17ENSG00000132446ENST00000359202p.Y35Cc.104A>GSubstitution - Missense
UROC1ENSG00000159650ENST00000383579p.A679Tc.2035G>ASubstitution - Missense
EML6ENSG00000214595ENST00000356458p.K1766fs*20c.5293delADeletion - Frameshift
TSPOENSG00000100300ENST00000337554p.W68Rc.202T>CSubstitution - Missense
ATP2A1ENSG00000196296ENST00000357084p.M897Vc.2689A>GSubstitution - Missense
TROENSG00000067445ENST00000319167p.K466Nc.1398A>CSubstitution - Missense
CDH19ENSG00000071991ENST00000262150p.K320fs*27c.959delADeletion - Frameshift
LAMA1ENSG00000101680ENST00000389658p.R1988Rc.5964G>ASubstitution - coding silent
WDR41ENSG00000164253ENST00000296679p.L304fs*8c.911delTDeletion - Frameshift
ASIC5ENSG00000256394ENST00000537611p.E238Gc.713A>GSubstitution - Missense
TBC1D32ENSG00000146350ENST00000398212p.L242Lc.724T>CSubstitution - coding silent
HINT3ENSG00000111911ENST00000229633p.I141Vc.421A>GSubstitution - Missense
ENST00000332454p.E447Gc.1340A>GSubstitution - Missense
KAT2AENSG00000108773ENST00000225916p.Y787Cc.2360A>GSubstitution - Missense
TCTE1ENSG00000146221ENST00000371505p.N344Sc.1031A>GSubstitution - Missense
ZMYND8ENSG00000101040ENST00000536340p.S920Sc.2760G>ASubstitution - coding silent
TMEM63BENSG00000137216ENST00000259746p.H422Rc.1265A>GSubstitution - Missense
GRM4ENSG00000124493ENST00000374177p.S242Ac.724T>GSubstitution - Missense
GSNENSG00000148180ENST00000373818p.D123Dc.369T>CSubstitution - coding silent
ABCB11ENSG00000073734ENST00000263817p.G40Gc.120T>CSubstitution - coding silent
SYT6ENSG00000134207ENST00000393296p.R177Cc.529C>TSubstitution - Missense
SMC6ENSG00000163029ENST00000381272p.L969Ic.2905T>ASubstitution - Missense
DZANK1ENSG00000089091ENST00000357236p.G500Rc.1498G>ASubstitution - Missense
TTC3ENSG00000182670ENST00000540756p.V411Ac.1232T>CSubstitution - Missense
KLK12ENSG00000186474ENST00000525263p.G202fs*42c.605delGDeletion - Frameshift
CACNA1EENSG00000198216ENST00000357570p.M474Vc.1420A>GSubstitution - Missense
SGCDENSG00000170624ENST00000447401p.A91Tc.271G>ASubstitution - Missense
KIAA0226ENSG00000145016ENST00000389665p.H98Rc.293A>GSubstitution - Missense
OSBP2ENSG00000184792ENST00000382310p.A130Ac.390G>ASubstitution - coding silent
BCAP29ENSG00000075790ENST00000379121p.T28Mc.83C>TSubstitution - Missense
DDX39BENSG00000198563ENST00000417556p.E149Gc.446A>GSubstitution - Missense
PTPRKENSG00000152894ENST00000368227p.?c.3147+6T>CUnknown
CSMD1ENSG00000183117ENST00000539096p.T904Ac.2710A>GSubstitution - Missense
AOC1ENSG00000002726ENST00000416793p.M479Vc.1435A>GSubstitution - Missense
ARID4BENSG00000054267ENST00000264183p.T939fs*2c.2815delADeletion - Frameshift
SECISBP2ENSG00000187742ENST00000375807p.N31Sc.92A>GSubstitution - Missense
CAPN3ENSG00000092529ENST00000356316p.R110Hc.329G>ASubstitution - Missense
MEGF8ENSG00000105429ENST00000334370p.G166fs*53c.491delGDeletion - Frameshift
ENST00000251268_v61p.G166fs*53c.491delGDeletion - Frameshift
NM_004667.3p.S181fs*85c.541delADeletion - Frameshift
NM_002203.2p.N227Dc.679A>GSubstitution - Missense
PADI1ENSG00000142623ENST00000375471p.H197Rc.590A>GSubstitution - Missense
PPP6R3ENSG00000110075ENST00000265636p.L372Sc.1115T>CSubstitution - Missense
SPTBN1ENSG00000115306ENST00000356805p.K401Tc.1202A>CSubstitution - Missense
CCNFENSG00000162063ENST00000397066p.I43Vc.127A>GSubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.T903Sc.2708C>GSubstitution - Missense
PDE6CENSG00000095464ENST00000371447p.S40Nc.119G>ASubstitution - Missense
AVPI1ENSG00000119986ENST00000370626p.H101Rc.302A>GSubstitution - Missense
DGKZENSG00000149091ENST00000421244p.E850fs*4c.2546_2547insCInsertion - Frameshift
PHF21AENSG00000135365ENST00000323180p.P189Pc.567T>CSubstitution - coding silent
EPHB2ENSG00000133216ENST00000374627p.L465Mc.1393C>ASubstitution - Missense
DERAENSG00000023697ENST00000428559p.?c.509-6C>TUnknown
KMT2DENSG00000167548ENST00000301067p.N5437Sc.16310A>GSubstitution - Missense
OS9ENSG00000135506ENST00000315970p.Y255Cc.764A>GSubstitution - Missense
NACAENSG00000196531ENST00000454682p.L880Lc.2640A>GSubstitution - coding silent
SU_OBSCN.1p.T3520fs*8c.10556delCDeletion - Frameshift
DCTN2ENSG00000175203ENST00000434715p.T103Tc.309A>GSubstitution - coding silent
TTC17ENSG00000052841ENST00000039989p.?c.918+6T>CUnknown
MKI67ENSG00000148773ENST00000368654p.G2318Dc.6953G>ASubstitution - Missense
KCNA1ENSG00000111262ENST00000382545p.V224Ac.671T>CSubstitution - Missense
BRMS1ENSG00000174744ENST00000359957p.I164Vc.490A>GSubstitution - Missense
DCHS1ENSG00000166341ENST00000299441p.?c.1987-9T>CUnknown
BRF1ENSG00000185024ENST00000440513p.E421Gc.1262A>GSubstitution - Missense
LPXNENSG00000110031ENST00000528954p.Q339Qc.1017G>ASubstitution - coding silent
EBF3ENSG00000108001ENST00000355311p.D407Gc.1220A>GSubstitution - Missense
KRTAP5-4ENSG00000241598ENST00000399682p.G120Gc.360C>TSubstitution - coding silent
ENST00000335883p.Q293fs*14c.877delCDeletion - Frameshift
C1orf51ENSG00000159208ENST00000369095p.I130Mc.390A>GSubstitution - Missense
NODALENSG00000156574ENST00000287139p.G278Gc.834C>TSubstitution - coding silent
ENST00000426033p.?c.6340+2T>CUnknown
TGFB3ENSG00000119699ENST00000238682p.?c.1080+3A>GUnknown
C10orf71ENSG00000177354ENST00000374144p.Q123Kc.367C>ASubstitution - Missense
PPIEENSG00000084072ENST00000324379p.?c.130+10T>CUnknown
NM_020824.2p.S644Sc.1932T>CSubstitution - coding silent
PPP2R1BENSG00000137713ENST00000311129p.R648Gc.1942A>GSubstitution - Missense
ENSG00000175604ENST00000312019p.T181Pc.541A>CSubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.S1111Sc.3333C>ASubstitution - coding silent
ENST00000316851_v65p.M743Vc.2227A>GSubstitution - Missense
SOS2ENSG00000100485ENST00000216373p.Q373Qc.1119A>GSubstitution - coding silent
ATG2BENSG00000066739ENST00000359933p.N981Nc.2943T>CSubstitution - coding silent
ZWILCHENSG00000174442ENST00000307897p.?c.53+2T>CUnknown
SACSENSG00000151835ENST00000382298p.K3988Nc.11964A>CSubstitution - Missense
CPS1ENSG00000021826ENST00000233072p.L878fs*8c.2629delTDeletion - Frameshift
INO80DENSG00000114933ENST00000403263p.S108Sc.324A>GSubstitution - coding silent
TLDC1ENSG00000140950ENST00000343629p.M95Tc.284T>CSubstitution - Missense
OTTHUMT00000057903.1p.N24Dc.70A>GSubstitution - Missense
ELF4ENSG00000102034ENST00000335997p.L442Lc.1326C>TSubstitution - coding silent
ENST00000237536_v68p.L656Rc.1967T>GSubstitution - Missense
LGALS3BPENSG00000108679ENST00000262776p.V572Ac.1715T>CSubstitution - Missense
ADRA1AENSG00000120907ENST00000380573p.P293Sc.877C>TSubstitution - Missense
POLR1EENSG00000137054ENST00000377792p.E224Ec.672A>GSubstitution - coding silent
PHF12ENSG00000109118ENST00000332830p.S937Sc.2811T>CSubstitution - coding silent
BBS2ENSG00000125124ENST00000245157p.?c.1225+10T>CUnknown
NM_001002021.1p.Y561Nc.1681T>ASubstitution - Missense
BTN3A2ENSG00000186470ENST00000527422p.P56Pc.168G>ASubstitution - coding silent
ZNF141ENSG00000131127ENST00000240499p.I70Fc.208A>TSubstitution - Missense
RASSF6ENSG00000169435ENST00000342081p.E188Gc.563A>GSubstitution - Missense
ADAMTS3ENSG00000156140ENST00000286657p.?c.1485+8G>AUnknown
ROBO1ENSG00000169855ENST00000495273p.A1207Ac.3621C>TSubstitution - coding silent
BHLHE40ENSG00000134107ENST00000256495p.S331Lc.992C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.V27245Ac.81734T>CSubstitution - Missense
ZDHHC8ENSG00000099904ENST00000405930p.T459fs*177c.1369delCDeletion - Frameshift
RIMBP3ENSG00000196622ENST00000426804p.E1403Gc.4208A>GSubstitution - Missense
MICAL3ENSG00000243156ENST00000441493p.S1700Pc.5098T>CSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.V1285Ac.3854T>CSubstitution - Missense
SPG7ENSG00000197912ENST00000268704p.V571Ac.1712T>CSubstitution - Missense
EVX2ENSG00000174279ENST00000308618p.A134Ac.402T>CSubstitution - coding silent
PLA2G3ENSG00000100078ENST00000215885p.S46Rc.136A>CSubstitution - Missense
FGFR1ENSG00000077782ENST00000447712p.?c.937-3T>AUnknown
CXorf30ENSG00000205081ENST00000378657p.K90fs*22c.267delADeletion - Frameshift
ENST00000405167p.L1926Ic.5776C>ASubstitution - Missense
RASGRP3ENSG00000152689ENST00000403687p.?c.691-4G>AUnknown
CRYBG3ENSG00000080200ENST00000182096p.K685Kc.2055A>GSubstitution - coding silent
ENST00000405167p.D3453Ec.10359C>GSubstitution - Missense
ARSAENSG00000100299ENST00000395619p.?c.854+3A>GUnknown
CSMD1ENSG00000183117ENST00000537824p.T904Ac.2710A>GSubstitution - Missense
LPAENSG00000198670ENST00000316300p.T1357Ac.4069A>GSubstitution - Missense
SYNPO2ENSG00000172403ENST00000434046p.R400Rc.1200A>GSubstitution - coding silent
FLT4ENSG00000037280ENST00000261937p.G755Gc.2265C>TSubstitution - coding silent
GPR56ENSG00000205336ENST00000379696p.L516Lc.1546C>TSubstitution - coding silent
RETSATENSG00000042445ENST00000295802p.R224Gc.670A>GSubstitution - Missense
RMND1ENSG00000155906ENST00000367303p.?c.938-6T>CUnknown
CUX1ENSG00000257923ENST00000292535p.T448Tc.1344A>GSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.S1006Pc.3016T>CSubstitution - Missense
GRIN2DENSG00000105464ENST00000263269p.I757Tc.2270T>CSubstitution - Missense
ENST00000344519_v68p.K339Nc.1017A>CSubstitution - Missense
EP300ENSG00000100393ENST00000263253p.P1969Pc.5907A>GSubstitution - coding silent
SERPINB3ENSG00000057149ENST00000283752p.H367Rc.1100A>GSubstitution - Missense
PALM2ENSG00000243444ENST00000374531p.E5Gc.14A>GSubstitution - Missense
DSTENSG00000151914ENST00000370769p.G5458Gc.16374A>GSubstitution - coding silent
MED22ENSG00000148297ENST00000344469p.C112Cc.336C>TSubstitution - coding silent
CDK20ENSG00000156345ENST00000336654p.G56Dc.167G>ASubstitution - Missense
WHSC1ENSG00000109685ENST00000382888p.S37Gc.109A>GSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.Y2521Dc.7561T>GSubstitution - Missense
SIENSG00000090402ENST00000264382p.H1150Rc.3449A>GSubstitution - Missense
SLITRK3ENSG00000121871ENST00000241274p.R777Rc.2331T>CSubstitution - coding silent
SPATA31D1ENSG00000214929ENST00000344803p.Q1217Kc.3649C>ASubstitution - Missense
CNTNAP2ENSG00000174469ENST00000361727p.P60Lc.179C>TSubstitution - Missense
ABCF1ENSG00000204574ENST00000326195p.V657Ac.1970T>CSubstitution - Missense
NM_144685p.T117Ac.349A>GSubstitution - Missense
PDE1CENSG00000154678ENST00000396191p.I699Ic.2097T>CSubstitution - coding silent
CCDC129ENSG00000180347ENST00000319386p.D83Ac.248A>CSubstitution - Missense
TIGD6ENSG00000164296ENST00000296736p.G122Cc.364G>TSubstitution - Missense
RNFT1ENSG00000189050ENST00000305783p.H241Hc.723T>CSubstitution - coding silent
PCDHB7ENSG00000113212ENST00000231137p.P719fs*19c.2153delCDeletion - Frameshift
DNAH5ENSG00000039139ENST00000265104p.L1235Vc.3703C>GSubstitution - Missense
MTSS1LENSG00000132613ENST00000338779p.G603Sc.1807G>ASubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.S631fs*1c.1884_1885insCInsertion - Frameshift
HIST1H4KENSG00000197914ENST00000357549p.T31Pc.91A>CSubstitution - Missense
SHHENSG00000164690ENST00000297261p.N81Sc.242A>GSubstitution - Missense
MNX1ENSG00000130675ENST00000252971p.Q305Rc.914A>GSubstitution - Missense
CCDC116ENSG00000161180ENST00000292779p.Q237Qc.711G>ASubstitution - coding silent
BRD4ENSG00000141867ENST00000360016p.P732Pc.2196T>CSubstitution - coding silent
NOTCH3ENSG00000074181ENST00000263388p.C408Cc.1224C>TSubstitution - coding silent
MEGF8ENSG00000105429ENST00000251268p.R1788Hc.5363G>ASubstitution - Missense
DDX4ENSG00000152670ENST00000505374p.?c.128-10T>CUnknown
MAP3K1ENSG00000095015ENST00000399503p.T407Pc.1219A>CSubstitution - Missense
GRM4ENSG00000124493ENST00000374177p.T692Tc.2076C>ASubstitution - coding silent
HLA-DQA2ENSG00000237541ENST00000374940p.Y48Hc.142T>CSubstitution - Missense
NM_003829.1p.V1152Ac.3455T>CSubstitution - Missense
MYH14ENSG00000105357ENST00000440075p.?c.590+1G>AUnknown
ABCA12ENSG00000144452ENST00000389661p.?c.5439+7T>CUnknown
ENST00000434489p.G245Vc.734G>TSubstitution - Missense
EPT1ENSG00000138018ENST00000260585p.V163Ac.488T>CSubstitution - Missense
ENST00000395333p.?c.400+2T>CUnknown
PARP15ENSG00000173200ENST00000310366p.D224Nc.670G>ASubstitution - Missense
CCDC174ENSG00000154781ENST00000383794p.K303fs*2c.902delADeletion - Frameshift
MFSD11ENSG00000092931ENST00000336509p.F424fs*17c.1267delTDeletion - Frameshift
POFUT2ENSG00000186866ENST00000331343p.F253Lc.757T>CSubstitution - Missense
C9orf142ENSG00000148362ENST00000371620p.S103fs*22c.298delGDeletion - Frameshift
AKAP9ENSG00000127914ENST00000356239p.N3611Sc.10832A>GSubstitution - Missense
PPTC7ENSG00000196850ENST00000354300p.I298Tc.893T>CSubstitution - Missense
NRP1ENSG00000099250ENST00000374816p.G572Vc.1715G>TSubstitution - Missense
KINENSG00000151657ENST00000379562p.?c.918+8C>TUnknown
PEAK1ENSG00000173517ENST00000312493p.R933Cc.2797C>TSubstitution - Missense
CD163ENSG00000177575ENST00000396620p.D249Gc.746A>GSubstitution - Missense
ISG20ENSG00000172183ENST00000306072p.E160Ec.480G>ASubstitution - coding silent
NM_001380.2p.S1397Sc.4191T>CSubstitution - coding silent
TBCEENSG00000116957ENST00000366601p.T200Tc.600T>CSubstitution - coding silent
DDX51ENSG00000185163ENST00000397333p.L274Pc.821T>CSubstitution - Missense
ARHGEF25ENSG00000240771ENST00000286494p.P558Pc.1674A>GSubstitution - coding silent
BIVMENSG00000134897ENST00000257336p.E118Ec.354A>GSubstitution - coding silent
TNFAIP2ENSG00000185215ENST00000333007p.R311fs*18c.925delCDeletion - Frameshift
PARP2ENSG00000129484ENST00000250416p.N187Nc.561T>CSubstitution - coding silent
PHRF1ENSG00000070047ENST00000416188p.A365Ac.1095G>ASubstitution - coding silent
ZNF839ENSG00000022976ENST00000442396p.?c.1191+2T>CUnknown
MTMR2ENSG00000087053ENST00000346299p.?c.570+1_571-1del895Unknown
CNNM1ENSG00000119946ENST00000356713p.T599Tc.1797G>TSubstitution - coding silent
C11orf42ENSG00000180878ENST00000316375p.S240Sc.720A>CSubstitution - coding silent
ALG5ENSG00000120697ENST00000239891p.F170Lc.508T>CSubstitution - Missense
JMJD1CENSG00000171988ENST00000399262p.Y2517Cc.7550A>GSubstitution - Missense
DDX21ENSG00000165732ENST00000354185p.A708Sc.2122G>TSubstitution - Missense
MUS81ENSG00000172732ENST00000308110p.A413Tc.1237G>ASubstitution - Missense
SNX19ENSG00000120451ENST00000265909p.V239Gc.716T>GSubstitution - Missense
MALRD1ENSG00000204740ENST00000454679p.H880Rc.2639A>GSubstitution - Missense
ATMENSG00000149311ENST00000278616p.?c.4236+6T>CUnknown
KIAA1377ENSG00000110318ENST00000263468p.K135Nc.405A>CSubstitution - Missense
IGF2ENSG00000167244ENST00000434045p.V22Gc.65T>GSubstitution - Missense
ACRBPENSG00000111644ENST00000229243p.I285Tc.854T>CSubstitution - Missense
KCNT2ENSG00000162687ENST00000294725p.A323Vc.968C>TSubstitution - Missense
TRIM49ENSG00000168930ENST00000329758p.I431Tc.1292T>CSubstitution - Missense
MNS1ENSG00000138587ENST00000260453p.?c.903+2T>CUnknown
WDHD1ENSG00000198554ENST00000360586p.G592Gc.1776A>GSubstitution - coding silent
JKAMPENSG00000050130ENST00000356057p.G315Ac.944G>CSubstitution - Missense
IGDCC4ENSG00000103742ENST00000352385p.A611fs*26c.1831delGDeletion - Frameshift
EXOC5ENSG00000070367ENST00000413566p.T465Tc.1395A>CSubstitution - coding silent
ZP4ENSG00000116996ENST00000366570p.K266Ic.797A>TSubstitution - Missense
UPF2ENSG00000151461ENST00000356352p.V1095Ac.3284T>CSubstitution - Missense
ENST00000389046p.V196Ac.587T>CSubstitution - Missense
PPP6R3ENSG00000110075ENST00000393801p.L515Pc.1544T>CSubstitution - Missense
FCGR3BENSG00000162747ENST00000294800p.T134Tc.402T>CSubstitution - coding silent
NOS1APENSG00000198929ENST00000361897p.M75Vc.223A>GSubstitution - Missense
VPS26AENSG00000122958ENST00000373382p.T223Pc.667A>CSubstitution - Missense
HPXENSG00000110169ENST00000265983p.S288Gc.862A>GSubstitution - Missense
PAPLNENSG00000100767ENST00000340738p.S1238Rc.3714C>ASubstitution - Missense
ENSG00000175604ENST00000312019p.S191Gc.571A>GSubstitution - Missense
OGFOD2ENSG00000111325ENST00000228922p.?c.189+8T>CUnknown
DMXL2ENSG00000104093ENST00000251076p.H342Hc.1026T>CSubstitution - coding silent
ENST00000257034p.D344Gc.1031A>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369348p.E67Gc.200A>GSubstitution - Missense
PPM1AENSG00000100614ENST00000529574p.?c.952+2T>CUnknown
RPS6KA1ENSG00000117676ENST00000531382p.R735*c.2203C>TSubstitution - Nonsense
CD164L2ENSG00000174950ENST00000374025p.R131fs*25c.387_388insCInsertion - Frameshift
FMN1ENSG00000248905ENST00000334528p.P335Sc.1003C>TSubstitution - Missense
AAGABENSG00000103591ENST00000261880p.P64Ac.190C>GSubstitution - Missense
PPP2R5CENSG00000078304ENST00000328724p.E399*c.1195G>TSubstitution - Nonsense
NDUFAF1ENSG00000137806ENST00000260361p.R9Rc.27T>CSubstitution - coding silent
CD93ENSG00000125810ENST00000246006p.G436fs*152c.1307delGDeletion - Frameshift
DZANK1ENSG00000089091ENST00000262547p.G614Rc.1840G>ASubstitution - Missense
DNASE2BENSG00000137976ENST00000370665p.H305Rc.914A>GSubstitution - Missense
NINJ1ENSG00000131669ENST00000375446p.M148Vc.442A>GSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.G199Gc.597A>GSubstitution - coding silent
MCM8ENSG00000125885ENST00000265187p.K101fs*15c.299delADeletion - Frameshift
KIAA1755ENSG00000149633ENST00000279024p.D872Dc.2616T>CSubstitution - coding silent
CDH17ENSG00000079112ENST00000027335p.P683Pc.2049T>CSubstitution - coding silent
INTS8ENSG00000164941ENST00000523731p.?c.1955-10T>GUnknown
FAM3BENSG00000183844ENST00000357985p.A17Tc.49G>ASubstitution - Missense
ENSG00000188474ENST00000339302p.K222Kc.666A>GSubstitution - coding silent
TTC3ENSG00000182670ENST00000354749p.D871Dc.2613C>TSubstitution - coding silent
USP16ENSG00000156256ENST00000399976p.N188Nc.564T>CSubstitution - coding silent
ROBO2ENSG00000185008ENST00000487694p.G18Ec.53G>ASubstitution - Missense
POLR2CENSG00000102978ENST00000219252p.S206Sc.618T>CSubstitution - coding silent
ENST00000356067p.E387Vc.1160A>TSubstitution - Missense
RBM5ENSG00000003756ENST00000347869p.H170Yc.508C>TSubstitution - Missense
LSSENSG00000160285ENST00000397728p.G630Rc.1888G>CSubstitution - Missense
NM_052947p.I1372Tc.4115T>CSubstitution - Missense
SERPINB4ENSG00000206073ENST00000341074p.T318Pc.952A>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P2256Sc.6766C>TSubstitution - Missense
ATP2B2ENSG00000157087ENST00000383800p.G133Gc.399A>GSubstitution - coding silent
AMZ2ENSG00000196704ENST00000392720p.?c.457+7T>CUnknown
IL1RL1ENSG00000115602ENST00000233954p.C181Cc.543T>CSubstitution - coding silent
CRTAPENSG00000170275ENST00000320954p.?c.1152+2T>CUnknown
MGAT4BENSG00000161013ENST00000337755p.F218Fc.654C>TSubstitution - coding silent
TM4SF4ENSG00000169903ENST00000305354p.T91Ac.271A>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.Y3560Sc.10679A>CSubstitution - Missense
MRPL18ENSG00000112110ENST00000367034p.F21Lc.61T>CSubstitution - Missense
KIAA1109ENSG00000138688ENST00000264501p.L1591fs*3c.4762_4763insAInsertion - Frameshift
IWS1ENSG00000163166ENST00000295321p.L590Lc.1770A>GSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.P301Tc.901C>ASubstitution - Missense
ABCB1ENSG00000085563ENST00000265724p.?c.3085-7A>GUnknown
DMTF1ENSG00000135164ENST00000394703p.R283fs*8c.841_842insAInsertion - Frameshift
GIGYF1ENSG00000146830ENST00000275732p.K511Rc.1532A>GSubstitution - Missense
RTN4ENSG00000115310ENST00000337526p.P658fs*3c.1964_1965insCInsertion - Frameshift
RSPH10BENSG00000155026ENST00000337579p.?c.1530-6T>CUnknown
CELSR1ENSG00000075275ENST00000262738p.G1973fs*23c.5916delADeletion - Frameshift
BFSP2ENSG00000170819ENST00000302334p.E359Gc.1076A>GSubstitution - Missense
PHLDB2ENSG00000144824ENST00000431670p.N976Sc.2927A>GSubstitution - Missense
MAST4ENSG00000069020ENST00000405643p.T2149Pc.6445A>CSubstitution - Missense
GRIK2ENSG00000164418ENST00000369138p.K544Rc.1631A>GSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.?c.13001-9T>GUnknown
ALKBH5ENSG00000091542ENST00000399138p.C378Rc.1132T>CSubstitution - Missense
ZNFX1ENSG00000124201ENST00000396105p.I1857Ic.5571T>CSubstitution - coding silent
SLC9A8ENSG00000197818ENST00000361573p.T494Tc.1482T>CSubstitution - coding silent
PAFAH1B1ENSG00000007168ENST00000397195p.Y102Hc.304T>CSubstitution - Missense
ITIH4ENSG00000055955ENST00000266041p.S579Sc.1737A>TSubstitution - coding silent
NM_031968.1p.S196Pc.586T>CSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.A586Vc.1757C>TSubstitution - Missense
ENST00000330917p.D212Gc.635A>GSubstitution - Missense
UGT2B15ENSG00000196620ENST00000338206p.M199Vc.595A>GSubstitution - Missense
TBXAS1ENSG00000059377ENST00000263552p.L231Sc.692T>CSubstitution - Missense
TRRAPENSG00000196367ENST00000359863p.F468fs*52c.1400delTDeletion - Frameshift
PDCD1ENSG00000188389ENST00000334409p.Y248Fc.743A>TSubstitution - Missense
SNED1ENSG00000162804ENST00000310397p.S165Sc.495A>GSubstitution - coding silent
ADCY3ENSG00000138031ENST00000260600p.A1020Tc.3058G>ASubstitution - Missense
ABI3BPENSG00000154175ENST00000383691p.?c.251-2A>CUnknown
SMC6ENSG00000163029ENST00000448223p.L943Ic.2827T>ASubstitution - Missense
FANCAENSG00000187741ENST00000389301p.M262fs*13c.784delADeletion - Frameshift
MMRN1ENSG00000138722ENST00000394980p.I878Tc.2633T>CSubstitution - Missense
BMP3ENSG00000152785ENST00000282701p.K333Ec.997A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S3445Nc.10334G>ASubstitution - Missense
FLT4ENSG00000037280ENST00000393347p.G755Gc.2265C>TSubstitution - coding silent
SLC4A5ENSG00000188687ENST00000394019p.R768Rc.2304C>ASubstitution - coding silent
EXOC6BENSG00000144036ENST00000272427p.M6Vc.16A>GSubstitution - Missense
TMLHEENSG00000185973ENST00000334398p.N183Dc.547A>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.Y3491Sc.10472A>CSubstitution - Missense
PLXND1ENSG00000004399ENST00000324093p.S473Sc.1419C>TSubstitution - coding silent
PSMD1ENSG00000173692ENST00000308696p.I133Tc.398T>CSubstitution - Missense
SH2B1ENSG00000178188ENST00000359285p.E584*c.1750G>TSubstitution - Nonsense
SH2B1ENSG00000178188ENST00000322610p.E584*c.1750G>TSubstitution - Nonsense
ORAI2ENSG00000160991ENST00000356387p.R180Cc.538C>TSubstitution - Missense
MOGAT3ENSG00000106384ENST00000223114p.W67Rc.199T>CSubstitution - Missense
TMEM203ENSG00000187713ENST00000343666p.F95Lc.283T>CSubstitution - Missense
CRELD2ENSG00000184164ENST00000404488p.Y133Cc.398A>GSubstitution - Missense
CCR2ENSG00000121807ENST00000445132p.V64Ac.191T>CSubstitution - Missense
ENSG00000272333ENST00000222270p.R1057fs*127c.3160delGDeletion - Frameshift
SPATA31D1ENSG00000214929ENST00000344803p.Q1217Kc.3649C>ASubstitution - Missense
ZNHIT3ENSG00000108278ENST00000225410p.?c.118+2T>CUnknown
PDGFAENSG00000197461ENST00000354513p.K209Nc.627A>CSubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.D1916Dc.5748T>CSubstitution - coding silent
TWISTNBENSG00000105849ENST00000222567p.G133Gc.399T>CSubstitution - coding silent
PI4KAENSG00000241973ENST00000572273p.S296Nc.887G>ASubstitution - Missense
SPTBN4ENSG00000160460ENST00000352632p.S932Rc.2794A>CSubstitution - Missense
EHMT2ENSG00000204371ENST00000375537p.T959Ac.2875A>GSubstitution - Missense
HPRENSG00000261701ENST00000540303p.K169Ec.505A>GSubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.K204Rc.611A>GSubstitution - Missense
TPH1ENSG00000129167ENST00000341556p.E303Kc.907G>ASubstitution - Missense
ARHGAP21ENSG00000107863ENST00000376410p.S635Sc.1905T>CSubstitution - coding silent
CAMKK2ENSG00000110931ENST00000392474p.M193Tc.578T>CSubstitution - Missense
TTC3ENSG00000182670ENST00000540756p.D561Dc.1683C>TSubstitution - coding silent
ATP11CENSG00000101974ENST00000370543p.H875Pc.2624A>CSubstitution - Missense
MAST4ENSG00000069020ENST00000261569p.T2134Pc.6400A>CSubstitution - Missense
ENST00000242365_v65p.L233fs*1c.698delTDeletion - Frameshift
SPTBN1ENSG00000115306ENST00000333896p.K388Tc.1163A>CSubstitution - Missense
UNC13BENSG00000198722ENST00000378495p.S263Fc.788C>TSubstitution - Missense
CTNNA3ENSG00000183230ENST00000433211p.N816Sc.2447A>GSubstitution - Missense
DOCK8ENSG00000107099ENST00000453981p.F1113fs*2c.3332delTDeletion - Frameshift
UBE4BENSG00000130939ENST00000343090p.K139Kc.417G>ASubstitution - coding silent
MTPAPENSG00000107951ENST00000358107p.P172Pc.516T>GSubstitution - coding silent
YBX3ENSG00000060138ENST00000228251p.Y192Cc.575A>GSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.T3749fs*8c.11243delCDeletion - Frameshift
FAM168AENSG00000054965ENST00000356467p.T160Ac.478A>GSubstitution - Missense
WNK1ENSG00000060237ENST00000537687p.?c.4152+7A>GUnknown
A2MENSG00000175899ENST00000318602p.T411Pc.1231A>CSubstitution - Missense
ENST00000451458p.P155Pc.465C>TSubstitution - coding silent
POM121ENSG00000196313ENST00000434423p.S285Sc.855T>CSubstitution - coding silent
COBLENSG00000106078ENST00000395542p.Q1112Rc.3335A>GSubstitution - Missense
SYBUENSG00000147642ENST00000422135p.P521Pc.1563T>CSubstitution - coding silent
ADAP1ENSG00000105963ENST00000539900p.E307Gc.920A>GSubstitution - Missense
PON2ENSG00000105854ENST00000536183p.N143Dc.427A>GSubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.G1804Gc.5412C>ASubstitution - coding silent
ADRA1AENSG00000120907ENST00000380572p.P293Sc.877C>TSubstitution - Missense
PLECENSG00000178209ENST00000354589p.H55Rc.164A>GSubstitution - Missense
C9orf156ENSG00000136932ENST00000455506p.?c.70+6T>AUnknown
ZFHX4ENSG00000091656ENST00000050961p.V1240Ac.3719T>CSubstitution - Missense
ADHFE1ENSG00000147576ENST00000379385p.?c.97+2T>CUnknown
GSNENSG00000148180ENST00000436847p.D83Dc.249T>CSubstitution - coding silent
FKBP15ENSG00000119321ENST00000414250p.V206Ec.617T>ASubstitution - Missense
SVEP1ENSG00000165124ENST00000302728p.C569Wc.1707T>GSubstitution - Missense
MPDZENSG00000107186ENST00000319217p.V1152Ac.3455T>CSubstitution - Missense
UNC13BENSG00000198722ENST00000396787p.H1038Rc.3113A>GSubstitution - Missense
NFX1ENSG00000086102ENST00000318524p.S677Sc.2031T>CSubstitution - coding silent
PCSK5ENSG00000099139ENST00000424854p.K412Ec.1234A>GSubstitution - Missense
TRPM6ENSG00000119121ENST00000449912p.F1452Cc.4355T>GSubstitution - Missense
FRMPD1ENSG00000070601ENST00000541302p.V72Ac.215T>CSubstitution - Missense
CSTF2ENSG00000101811ENST00000415585p.A512Vc.1535C>TSubstitution - Missense
DAPK1ENSG00000196730ENST00000469640p.T612Tc.1836G>ASubstitution - coding silent
IARSENSG00000196305ENST00000375629p.L50Pc.149T>CSubstitution - Missense
SYTL5ENSG00000147041ENST00000456733p.?c.962-9A>GUnknown
FMR1ENSG00000102081ENST00000334557p.W80Rc.238T>CSubstitution - Missense
SAGE1ENSG00000181433ENST00000535938p.T808Tc.2424T>GSubstitution - coding silent
BCORL1ENSG00000085185ENST00000303743p.E1767Kc.5299G>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.V216Mc.646G>ASubstitution - Missense
CAPN3ENSG00000092529ENST00000357568p.R197Hc.590G>ASubstitution - Missense
FRMPD1ENSG00000070601ENST00000377765p.V203Ac.608T>CSubstitution - Missense
USP48ENSG00000090686ENST00000308271p.?c.2622+3A>GUnknown
PCDH17ENSG00000118946ENST00000377918p.S642Ic.1925G>TSubstitution - Missense
NAV3ENSG00000067798ENST00000397909p.C2324Wc.6972C>GSubstitution - Missense
DCTN2ENSG00000175203ENST00000434715p.T103Tc.309A>GSubstitution - coding silent
MARSENSG00000166986ENST00000315473p.S345Gc.1033A>GSubstitution - Missense
DGKZENSG00000149091ENST00000395574p.E816fs*4c.2444_2445insCInsertion - Frameshift
CREB3L1ENSG00000157613ENST00000529193p.S228fs*35c.676delCDeletion - Frameshift
NM_018979p.L1778Lc.5334G>ASubstitution - coding silent
CDC42BPBENSG00000198752ENST00000361246p.E1509Ec.4527A>GSubstitution - coding silent
G2E3ENSG00000092140ENST00000206595p.L521Pc.1562T>CSubstitution - Missense
MS4A4AENSG00000110079ENST00000395016p.S114Rc.340A>CSubstitution - Missense
PRICKLE1ENSG00000139174ENST00000345127p.S507Lc.1520C>TSubstitution - Missense
OPN3ENSG00000054277ENST00000366554p.D358Gc.1073A>GSubstitution - Missense
CHUKENSG00000213341ENST00000370397p.A707Ac.2121A>CSubstitution - coding silent
PPP6R3ENSG00000110075ENST00000529710p.?c.1125+2T>CUnknown
USPL1ENSG00000132952ENST00000255304p.S1001Rc.3003T>ASubstitution - Missense
EPB42ENSG00000166947ENST00000300215p.V279Mc.835G>ASubstitution - Missense
STARD9ENSG00000159433ENST00000290607p.F1650fs*37c.4944delTDeletion - Frameshift
KCNK7ENSG00000173338ENST00000340313p.E288Ec.864A>GSubstitution - coding silent
CDH23ENSG00000107736ENST00000398809p.T423Ac.1267A>GSubstitution - Missense
PLEKHD1ENSG00000175985ENST00000322564p.?c.1056+4C>TUnknown
CCDC153ENSG00000248712ENST00000503566p.E128Vc.383A>TSubstitution - Missense
IPO8ENSG00000133704ENST00000256079p.T400Ac.1198A>GSubstitution - Missense
VPS37BENSG00000139722ENST00000267202p.Q171Rc.512A>GSubstitution - Missense
SETD3ENSG00000183576ENST00000331768p.E494Gc.1481A>GSubstitution - Missense
PPP2R3CENSG00000092020ENST00000261475p.E297delEc.889_891delGAADeletion - In frame
BEND5ENSG00000162373ENST00000371833p.L16Lc.48G>ASubstitution - coding silent
UBAP2LENSG00000143569ENST00000343815p.S356Rc.1066A>CSubstitution - Missense
MPHOSPH8ENSG00000196199ENST00000361479p.S392Sc.1176C>TSubstitution - coding silent
DIO2ENSG00000211448ENST00000555750p.F19fs*23c.56delTDeletion - Frameshift
SERPINA1ENSG00000197249ENST00000440909p.?c.918-7A>GUnknown
DIS3LENSG00000166938ENST00000319194p.D515Gc.1544A>GSubstitution - Missense
LPHN2ENSG00000117114ENST00000370725p.N1200Sc.3599A>GSubstitution - Missense
SYT3ENSG00000213023ENST00000338916p.L96fs*5c.286delCDeletion - Frameshift
SPTBN4ENSG00000160460ENST00000344104p.S932Rc.2794A>CSubstitution - Missense
ZFP36ENSG00000128016ENST00000597629p.L283Pc.848T>CSubstitution - Missense
SLC35C2ENSG00000080189ENST00000543605p.I176Vc.526A>GSubstitution - Missense
ASXL1ENSG00000171456ENST00000306058p.D1122Gc.3365A>GSubstitution - Missense
NFATC2ENSG00000101096ENST00000371564p.L370Rc.1109T>GSubstitution - Missense
USP41ENSG00000161133ENST00000454608p.?c.723+2T>CUnknown
CLTCL1ENSG00000070371ENST00000427926p.S1080Pc.3238T>CSubstitution - Missense
CACNA1IENSG00000100346ENST00000400164p.I684Nc.2051T>ASubstitution - Missense
POLR1BENSG00000125630ENST00000541869p.R933Rc.2799A>GSubstitution - coding silent
IL1RL1ENSG00000115602ENST00000393393p.C181Cc.543T>CSubstitution - coding silent
TBC1D22AENSG00000054611ENST00000380995p.G190Gc.570T>CSubstitution - coding silent
BCL2L11ENSG00000153094ENST00000393253p.?c.228+2T>CUnknown
POLR1BENSG00000125630ENST00000541869p.G900Gc.2700A>GSubstitution - coding silent
ITGAVENSG00000138448ENST00000433736p.?c.2029-3T>CUnknown
ENST00000263817_v70p.G40Gc.120T>CSubstitution - coding silent
DHRS9ENSG00000073737ENST00000432060p.V325Ac.974T>CSubstitution - Missense
COBLL1ENSG00000082438ENST00000194871p.H873Pc.2618A>CSubstitution - Missense
DOCK10ENSG00000135905ENST00000409592p.D1062Gc.3185A>GSubstitution - Missense
OBSL1ENSG00000124006ENST00000373873p.L307Pc.920T>CSubstitution - Missense
HSPD1ENSG00000144381ENST00000544407p.?c.174+2T>CUnknown
ENST00000310397_v70p.S165Sc.495A>GSubstitution - coding silent
NRXN1ENSG00000179915ENST00000402717p.G385Wc.1153G>TSubstitution - Missense
ENST00000314583_v70p.S232Pc.694T>CSubstitution - Missense
COL6A5ENSG00000172752ENST00000373157p.T272Sc.814A>TSubstitution - Missense
PLXND1ENSG00000004399ENST00000393239p.A1590Tc.4768G>ASubstitution - Missense
PLXND1ENSG00000004399ENST00000393239p.S473Sc.1419C>TSubstitution - coding silent
CCDC36ENSG00000173421ENST00000366429p.S16Sc.48A>GSubstitution - coding silent
SRGAP3ENSG00000196220ENST00000360413p.F823Vc.2467T>GSubstitution - Missense
ANK2ENSG00000145362ENST00000506722p.K1370Nc.4110A>CSubstitution - Missense
FANK1ENSG00000203780ENST00000368691p.K273fs*>10c.811delADeletion - Frameshift
KLHL5ENSG00000109790ENST00000359687p.T736Ac.2206A>GSubstitution - Missense
KLHL5ENSG00000109790ENST00000381930p.T736Ac.2206A>GSubstitution - Missense
DENND2CENSG00000175984ENST00000393274p.F826fs*5c.2478delTDeletion - Frameshift
ZNF496ENSG00000162714ENST00000366498p.A423fs*68c.1266delCDeletion - Frameshift
PPIL2ENSG00000100023ENST00000412327p.T303fs*27c.903delADeletion - Frameshift
ZNF566ENSG00000186017ENST00000454319p.K108fs*46c.324delADeletion - Frameshift
SLC12A9ENSG00000146828ENST00000540482p.P29fs*100c.83_84insGInsertion - Frameshift
KIAA1731ENSG00000166004ENST00000411936p.A2444Tc.7330G>ASubstitution - Missense
KIAA1731ENSG00000166004ENST00000411936p.N313Sc.938A>GSubstitution - Missense
ENST00000378024_v70p.D2552Ac.7655A>CSubstitution - Missense
ENST00000446546_v70p.?c.616+4A>GUnknown
ZCCHC14ENSG00000140948ENST00000561928p.?c.842+2T>CUnknown
AGBL1ENSG00000166748ENST00000441037p.H675Pc.2024A>CSubstitution - Missense
FIP1L1ENSG00000145216ENST00000358575p.?c.1267+6T>CUnknown
ITIH4ENSG00000055955ENST00000434759p.S491Sc.1473A>TSubstitution - coding silent
ZNF737ENSG00000237440ENST00000427401p.A24Ac.72A>GSubstitution - coding silent
ENST00000353411_v70p.I135Tc.404T>CSubstitution - Missense
MYO10ENSG00000145555ENST00000513610p.S944Pc.2830T>CSubstitution - Missense
CLINT1ENSG00000113282ENST00000411809p.R458Rc.1372A>CSubstitution - coding silent
MAST4ENSG00000069020ENST00000403666p.T2139Pc.6415A>CSubstitution - Missense
SCAF8ENSG00000213079ENST00000367186p.F700Sc.2099T>CSubstitution - Missense
EHMT2ENSG00000204371ENST00000395728p.T1016Ac.3046A>GSubstitution - Missense
SLC17A2ENSG00000112337ENST00000377850p.I94Sc.281T>GSubstitution - Missense
ABCC10ENSG00000124574ENST00000372530p.V351Ac.1052T>CSubstitution - Missense
TJAP1ENSG00000137221ENST00000372445p.A4Pc.10G>CSubstitution - Missense
DOCK4ENSG00000128512ENST00000494651p.?c.784+7G>AUnknown
LAMB4ENSG00000091128ENST00000388780p.H811Yc.2431C>TSubstitution - Missense
LHFPL3ENSG00000187416ENST00000543266p.V38Mc.112G>ASubstitution - Missense
CADPS2ENSG00000081803ENST00000313070p.Q1207Hc.3621G>TSubstitution - Missense
CCDC129ENSG00000180347ENST00000451887p.D109Ac.326A>CSubstitution - Missense
ENST00000328843_v70p.L658Lc.1974A>GSubstitution - coding silent
PCLOENSG00000186472ENST00000423517p.Y3560Sc.10679A>CSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.F4445Vc.13333T>GSubstitution - Missense
CACNA2D1ENSG00000153956ENST00000356253p.F686Sc.2057T>CSubstitution - Missense
MYPNENSG00000138347ENST00000540630p.D120Dc.360T>CSubstitution - coding silent
OPN4ENSG00000122375ENST00000443292p.I360Ic.1080T>ASubstitution - coding silent
SH2D4BENSG00000178217ENST00000470604p.P90Pc.270C>ASubstitution - coding silent
CDH23ENSG00000107736ENST00000442677p.V519Ac.1556T>CSubstitution - Missense
TTC12ENSG00000149292ENST00000314756p.L45Lc.135A>GSubstitution - coding silent
MYOFENSG00000138119ENST00000371501p.F499Lc.1497T>GSubstitution - Missense
MYBPC3ENSG00000134571ENST00000545968p.?c.2995-10C>AUnknown
TTC17ENSG00000052841ENST00000299240p.?c.918+6T>CUnknown
ENST00000396394_v70p.?c.343+7T>CUnknown
HYOU1ENSG00000149428ENST00000543287p.T513Ac.1537A>GSubstitution - Missense
TRIM34ENSG00000258659ENST00000514226p.V435Gc.1304T>GSubstitution - Missense
OR8H3ENSG00000181761ENST00000313472p.F13Ic.37T>ASubstitution - Missense
OR4C6ENSG00000181903ENST00000314259p.L223Rc.668T>GSubstitution - Missense
LRRC55ENSG00000183908ENST00000497933p.H197Hc.591T>CSubstitution - coding silent
SPTBN2ENSG00000173898ENST00000529997p.R1935Hc.5804G>ASubstitution - Missense
TTC9CENSG00000162222ENST00000513247p.P190Lc.569C>TSubstitution - Missense
TMEM116ENSG00000198270ENST00000552374p.T130Tc.390A>CSubstitution - coding silent
FAT3ENSG00000165323ENST00000541502p.V284Lc.850G>CSubstitution - Missense
FOXJ2ENSG00000065970ENST00000428177p.A220Tc.658G>ASubstitution - Missense
EBPLENSG00000123179ENST00000378282p.N69Sc.206A>GSubstitution - Missense
ZC3H13ENSG00000123200ENST00000242848p.R262Rc.786T>CSubstitution - coding silent
DGKHENSG00000102780ENST00000379274p.E531Gc.1592A>GSubstitution - Missense
KLENSG00000133116ENST00000426690p.H160Rc.479A>GSubstitution - Missense
MCF2LENSG00000126217ENST00000423482p.F151Lc.451T>CSubstitution - Missense
RABGAP1LENSG00000152061ENST00000367687p.R215Gc.643A>GSubstitution - Missense
RABGAP1LENSG00000152061ENST00000489615p.R208Gc.622A>GSubstitution - Missense
POU2F1ENSG00000143190ENST00000420254p.S366Cc.1096A>TSubstitution - Missense
CLCNKBENSG00000184908ENST00000375667p.H188Qc.564T>ASubstitution - Missense
NCSTNENSG00000162736ENST00000368063p.P302Sc.904C>TSubstitution - Missense
CAMSAP2ENSG00000118200ENST00000236925p.?c.3498+4T>CUnknown
KCNT2ENSG00000162687ENST00000367431p.A323Vc.968C>TSubstitution - Missense
CRB1ENSG00000134376ENST00000535699p.Y739*c.2217T>GSubstitution - Nonsense
ENST00000295713_v70p.?c.1296-8A>GUnknown
MYOM3ENSG00000142661ENST00000329601p.K138Tc.413A>CSubstitution - Missense
OPN3ENSG00000054277ENST00000331838p.D279Gc.836A>GSubstitution - Missense
CSMD2ENSG00000121904ENST00000373388p.F197Sc.590T>CSubstitution - Missense
TMEM59ENSG00000116209ENST00000452421p.M146Vc.436A>GSubstitution - Missense
NFYCENSG00000066136ENST00000308733p.K124Nc.372A>CSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.E912Dc.2736G>TSubstitution - Missense
ACADMENSG00000117054ENST00000420607p.K221Ec.661A>GSubstitution - Missense
PLEKHG5ENSG00000171680ENST00000535355p.L710Lc.2130A>TSubstitution - coding silent
PLEKHG5ENSG00000171680ENST00000537245p.E719Vc.2156A>TSubstitution - Missense
PLEKHG5ENSG00000171680ENST00000535355p.E709Vc.2126A>TSubstitution - Missense
ACOT7ENSG00000097021ENST00000377855p.R364Wc.1090C>TSubstitution - Missense
LPHN2ENSG00000117114ENST00000370721p.A1284Tc.3850G>ASubstitution - Missense
ESR2ENSG00000140009ENST00000357782p.M453Tc.1358T>CSubstitution - Missense
ESR2ENSG00000140009ENST00000557772p.M453Tc.1358T>CSubstitution - Missense
DPP8ENSG00000074603ENST00000341861p.E726Ec.2178A>GSubstitution - coding silent
GCOM1ENSG00000137878ENST00000380561p.E341Dc.1023G>TSubstitution - Missense
ABCC1ENSG00000103222ENST00000399408p.Q1036Qc.3108A>GSubstitution - coding silent
AP1G1ENSG00000166747ENST00000393512p.?c.1097+2T>CUnknown
AP1G1ENSG00000166747ENST00000433195p.?c.1157+2T>CUnknown
FBXW10ENSG00000171931ENST00000308799p.H833Rc.2498A>GSubstitution - Missense
SEPT4ENSG00000108387ENST00000393086p.L314Sc.941T>CSubstitution - Missense
ATXN7L3ENSG00000087152ENST00000454077p.A18Dc.53C>ASubstitution - Missense
HAP1ENSG00000173805ENST00000310778p.S30Sc.90A>GSubstitution - coding silent
MYH10ENSG00000133026ENST00000396239p.V1562Mc.4684G>ASubstitution - Missense
NPLOC4ENSG00000182446ENST00000374747p.I204Vc.610A>GSubstitution - Missense
DLGAP1ENSG00000170579ENST00000581527p.V739Ac.2216T>CSubstitution - Missense
DLGAP1ENSG00000170579ENST00000581699p.V445Ac.1334T>CSubstitution - Missense
IL12RB1ENSG00000096996ENST00000593993p.D390Gc.1169A>GSubstitution - Missense
UPF1ENSG00000005007ENST00000599848p.P679Pc.2037A>GSubstitution - coding silent
UPF1ENSG00000005007ENST00000599848p.K1025*c.3073A>TSubstitution - Nonsense
SHC2ENSG00000129946ENST00000264554p.A218Ac.654C>TSubstitution - coding silent
PRRC2BENSG00000130723ENST00000357304p.R684Hc.2051G>ASubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.R684Hc.2051G>ASubstitution - Missense
SATB1ENSG00000182568ENST00000338745p.?c.515+2T>GUnknown
FAM131AENSG00000175182ENST00000383847p.F175Lc.523T>CSubstitution - Missense
FAM131AENSG00000175182ENST00000310585p.F144Lc.430T>CSubstitution - Missense
ECE2ENSG00000145194ENST00000402825p.F866Lc.2596T>CSubstitution - Missense
ECE2ENSG00000145194ENST00000359140p.F719Lc.2155T>CSubstitution - Missense
ALG3ENSG00000214160ENST00000397676p.A215Tc.643G>ASubstitution - Missense
KNG1ENSG00000113889ENST00000265023p.E24Gc.71A>GSubstitution - Missense
OPA1ENSG00000198836ENST00000361510p.F183fs*12c.544delTDeletion - Frameshift
GMNCENSG00000205835ENST00000442080p.R168Rc.502A>CSubstitution - coding silent
KLHL2ENSG00000109466ENST00000226725p.Y113Yc.339T>CSubstitution - coding silent
NAF1ENSG00000145414ENST00000422287p.T78Tc.234C>GSubstitution - coding silent
HAND2ENSG00000164107ENST00000359562p.V83Gc.248T>GSubstitution - Missense
NEK1ENSG00000137601ENST00000507142p.?c.3715-6G>CUnknown
NEK1ENSG00000137601ENST00000507142p.?c.3715-6G>CUnknown
MYO10ENSG00000145555ENST00000274203p.T164Pc.490A>CSubstitution - Missense
ENST00000388903p.Y1855Dc.5563T>GSubstitution - Missense
WDR17ENSG00000150627ENST00000280190p.G391Gc.1173A>GSubstitution - coding silent
RNF44ENSG00000146083ENST00000274811p.?c.1136+7A>GUnknown
FBXW11ENSG00000072803ENST00000296933p.L319Pc.956T>CSubstitution - Missense
RANBP17ENSG00000204764ENST00000523189p.L626*c.1877T>ASubstitution - Nonsense
RGS14ENSG00000169220ENST00000408923p.A435Vc.1304C>TSubstitution - Missense
ENST00000398118p.E410Vc.1229A>TSubstitution - Missense
SLC34A1ENSG00000131183ENST00000324417p.I482Tc.1445T>CSubstitution - Missense
DDX4ENSG00000152670ENST00000505374p.?c.128-10T>CUnknown
NM_002203.2p.K534Rc.1601A>GSubstitution - Missense
XM_042066p.T244Pc.730A>CSubstitution - Missense
ADAMTS6ENSG00000049192ENST00000381055p.G577Gc.1731C>TSubstitution - coding silent
ATF6BENSG00000213676ENST00000375203p.L630Pc.1889T>CSubstitution - Missense
TNXBENSG00000168477ENST00000375244p.H2016Rc.6047A>GSubstitution - Missense
SKIV2LENSG00000204351ENST00000375394p.L856Lc.2566T>CSubstitution - coding silent
SLC44A4ENSG00000204385ENST00000229729p.?c.937+9C>TUnknown
RING1ENSG00000204227ENST00000374656p.L375Sc.1124T>CSubstitution - Missense
HLA-DPA1ENSG00000231389ENST00000419277p.P127Pc.381T>GSubstitution - coding silent
PSMB9ENSG00000240065ENST00000453265p.G134Gc.402T>CSubstitution - coding silent
BRD2ENSG00000204256ENST00000395289p.N783Sc.2348A>GSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.T885Ac.2653A>GSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.T885Ac.2653A>GSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.F1643Vc.4927T>GSubstitution - Missense
SYNGAP1ENSG00000197283ENST00000293748p.G1056fs*21c.3163delGDeletion - Frameshift
B3GALT4ENSG00000235863ENST00000451237p.A69fs*16c.202delGDeletion - Frameshift
UHRF1BP1ENSG00000065060ENST00000192788p.L819Rc.2456T>GSubstitution - Missense
GRM4ENSG00000124493ENST00000374181p.S311Ac.931T>GSubstitution - Missense
GRM4ENSG00000124493ENST00000374181p.S311Ac.931T>GSubstitution - Missense
SPDEFENSG00000124664ENST00000374037p.G2fs*7c.5delGDeletion - Frameshift
GRM4ENSG00000124493ENST00000374181p.T808Tc.2424C>ASubstitution - coding silent
CDC5LENSG00000096401ENST00000371477p.R181Hc.542G>ASubstitution - Missense
POLHENSG00000170734ENST00000372236p.S482Sc.1446A>GSubstitution - coding silent
PKHD1ENSG00000170927ENST00000371117p.L2653Rc.7958T>GSubstitution - Missense
PKHD1ENSG00000170927ENST00000340994p.L2653Rc.7958T>GSubstitution - Missense
PKHD1ENSG00000170927ENST00000340994p.N2535Tc.7604A>CSubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.?c.6122-9C>TUnknown
TFAP2BENSG00000008196ENST00000393655p.S258Sc.774G>ASubstitution - coding silent
PTCHD4ENSG00000244694ENST00000339488p.S478Pc.1432T>CSubstitution - Missense
CD2APENSG00000198087ENST00000359314p.E429Ec.1287A>GSubstitution - coding silent
UNC13BENSG00000198722ENST00000396787p.S275Fc.824C>TSubstitution - Missense
SFMBT2ENSG00000198879ENST00000379711p.T99Mc.296C>TSubstitution - Missense
DOCK1ENSG00000150760ENST00000280333p.S1397Sc.4191T>CSubstitution - coding silent
ENST00000379172p.G426Gc.1278T>CSubstitution - coding silent
APBB1IPENSG00000077420ENST00000356785p.?c.73-6T>CUnknown
ACBD5ENSG00000107897ENST00000375888p.T482Tc.1446A>GSubstitution - coding silent
ZNF511ENSG00000198546ENST00000359035p.Q145Rc.434A>GSubstitution - Missense
CDH23ENSG00000107736ENST00000299366p.T426Ac.1276A>GSubstitution - Missense
ENST00000251268_v61p.R2247Hc.6740G>ASubstitution - Missense
ZNF226ENSG00000167380ENST00000454662p.R113Kc.338G>ASubstitution - Missense
ZNF223ENSG00000178386ENST00000434772p.F241Vc.721T>GSubstitution - Missense
XRCC1ENSG00000073050ENST00000262887p.?c.1294-9C>AUnknown
TEX101ENSG00000131126ENST00000253435p.?c.445+3A>CUnknown
CEACAM19ENSG00000186567ENST00000358777p.G200Gc.600A>GSubstitution - coding silent
JPH2ENSG00000149596ENST00000372980p.A394Tc.1180G>ASubstitution - Missense
ADRA1DENSG00000171873ENST00000379453p.I107Tc.320T>CSubstitution - Missense
ENSG00000205300ENST00000379526p.R20Kc.59G>ASubstitution - Missense
SPEF1ENSG00000101222ENST00000379756p.A96Tc.286G>ASubstitution - Missense
STK4ENSG00000101109ENST00000372806p.V44Ic.130G>ASubstitution - Missense
STK4ENSG00000101109ENST00000372801p.V44Ic.130G>ASubstitution - Missense
KCNS1ENSG00000124134ENST00000306117p.I455Vc.1363A>GSubstitution - Missense
CSNK2A1ENSG00000101266ENST00000349736p.?c.824+3A>GUnknown
SULF2ENSG00000196562ENST00000359930p.T669Ac.2005A>GSubstitution - Missense
ZMYND8ENSG00000101040ENST00000461685p.S867Sc.2601G>ASubstitution - coding silent
SLC35C2ENSG00000080189ENST00000372227p.I147Vc.439A>GSubstitution - Missense
SLC35C2ENSG00000080189ENST00000372229p.I14Vc.40A>GSubstitution - Missense
MMP9ENSG00000100985ENST00000372330p.?c.1174+8T>CUnknown
ARFGEF2ENSG00000124198ENST00000371917p.L772Lc.2316A>GSubstitution - coding silent
PDGFRAENSG00000134853ENST00000257290p.Y273Sc.818A>CSubstitution - Missense
STAP1ENSG00000035720ENST00000396225p.?c.659+6T>GUnknown
TECRLENSG00000205678ENST00000381210p.?c.287-1G>TUnknown
NM_002847.2p.Q905Pc.2714A>CSubstitution - Missense
PTPRN2ENSG00000155093ENST00000404321p.Q928Pc.2783A>CSubstitution - Missense
RBM33ENSG00000184863ENST00000401878p.V866Ac.2597T>CSubstitution - Missense
NM_058004.1p.S296Nc.887G>ASubstitution - Missense
XM_036729.3p.?c.768+2T>CUnknown
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
ZNF280AENSG00000169548ENST00000302097p.Y34Cc.101A>GSubstitution - Missense
CCDC116ENSG00000161180ENST00000292779p.E110Dc.330G>TSubstitution - Missense
IFIH1ENSG00000115267ENST00000263642p.N693Tc.2078A>CSubstitution - Missense
SLC4A10ENSG00000144290ENST00000415876p.S918Pc.2752T>CSubstitution - Missense
COBLL1ENSG00000082438ENST00000342193p.H806Pc.2417A>CSubstitution - Missense
DHRS9ENSG00000073737ENST00000357546p.V265Ac.794T>CSubstitution - Missense
SGCZENSG00000185053ENST00000382080p.?c.745-8T>CUnknown
FAM135BENSG00000147724ENST00000395297p.G794Gc.2382T>GSubstitution - coding silent
SLAENSG00000155926ENST00000427060p.T155Ac.463A>GSubstitution - Missense
SLAENSG00000155926ENST00000338087p.T115Ac.343A>GSubstitution - Missense
PHF20L1ENSG00000129292ENST00000395386p.T959Ac.2875A>GSubstitution - Missense
NM_001702.1p.S383Pc.1147T>CSubstitution - Missense
PTP4A3ENSG00000184489ENST00000521578p.L158Pc.473T>CSubstitution - Missense
TRIM32ENSG00000119401ENST00000450136p.S502Tc.1504T>ASubstitution - Missense
TNCENSG00000041982ENST00000350763p.D934Gc.2801A>GSubstitution - Missense
FOXD4ENSG00000170122ENST00000382500p.Q201Rc.602A>GSubstitution - Missense
ORM1ENSG00000229314ENST00000259396p.T176Ac.526A>GSubstitution - Missense
AMBPENSG00000106927ENST00000265132p.V339Ac.1016T>CSubstitution - Missense
PTGS1ENSG00000095303ENST00000362012p.?c.1010-1G>CUnknown
GSNENSG00000148180ENST00000373823p.D72Dc.216T>CSubstitution - coding silent
ENST00000373926p.K251Nc.753A>CSubstitution - Missense
RPL35ENSG00000136942ENST00000348462p.Y119Cc.356A>GSubstitution - Missense
ST6GALNAC6ENSG00000160408ENST00000373146p.Y153Hc.457T>CSubstitution - Missense
ZNF79ENSG00000196152ENST00000342483p.E474Kc.1420G>ASubstitution - Missense
ZBTB34ENSG00000177125ENST00000373452p.S101Gc.301A>GSubstitution - Missense
ANGPTL2ENSG00000136859ENST00000373425p.K45Rc.134A>GSubstitution - Missense
PKN3ENSG00000160447ENST00000291906p.P90Pc.270T>CSubstitution - coding silent
SPTAN1ENSG00000197694ENST00000372731p.S1568Nc.4703G>ASubstitution - Missense
SLC27A4ENSG00000167114ENST00000300456p.E152Vc.455A>TSubstitution - Missense
SLC25A25ENSG00000148339ENST00000373068p.Y298Hc.892T>CSubstitution - Missense
SLC25A25ENSG00000148339ENST00000432073p.Y284Hc.850T>CSubstitution - Missense
SLC25A25ENSG00000148339ENST00000373064p.Y264Hc.790T>CSubstitution - Missense
ABL1ENSG00000097007ENST00000372348p.H571Rc.1712A>GSubstitution - Missense
LRRC8AENSG00000136802ENST00000372599p.N191Nc.573T>CSubstitution - coding silent
MPDZENSG00000107186ENST00000541718p.V1152Ac.3455T>CSubstitution - Missense
SYNPOENSG00000171992ENST00000394243p.P9Pc.27G>ASubstitution - coding silent
ENST00000274705p.A517Ac.1551G>ASubstitution - coding silent
SLC36A2ENSG00000186335ENST00000335244p.D382Gc.1145A>GSubstitution - Missense
RNF145ENSG00000145860ENST00000274542p.F584fs*23c.1751delTDeletion - Frameshift
THG1LENSG00000113272ENST00000231198p.?c.191+2T>GUnknown
CLINT1ENSG00000113282ENST00000523094p.R440Rc.1318A>CSubstitution - coding silent
GABRB2ENSG00000145864ENST00000274547p.T249Sc.745A>TSubstitution - Missense
GABRB2ENSG00000145864ENST00000353437p.T249Sc.745A>TSubstitution - Missense
CCNJLENSG00000135083ENST00000393977p.T18Ac.52A>GSubstitution - Missense
MYO10ENSG00000145555ENST00000274203p.S944Pc.2830T>CSubstitution - Missense
GNL1ENSG00000204590ENST00000376621p.S524Gc.1570A>GSubstitution - Missense
MAS1LENSG00000204687ENST00000377127p.K81Kc.243G>ASubstitution - coding silent
SERPINB6ENSG00000124570ENST00000380520p.E322Vc.965A>TSubstitution - Missense
RIPK1ENSG00000137275ENST00000259808p.?c.1729+8A>GUnknown
DDX39BENSG00000198563ENST00000449757p.E157Gc.470A>GSubstitution - Missense
PIK3CGENSG00000105851ENST00000440650p.D192Nc.574G>ASubstitution - Missense
ATXN7L1ENSG00000146776ENST00000419735p.N828fs*4c.2483delADeletion - Frameshift
LHFPL3ENSG00000187416ENST00000535008p.V38Mc.112G>ASubstitution - Missense
LRRN3ENSG00000173114ENST00000308478p.Y661Fc.1982A>TSubstitution - Missense
NM_001007157.1p.N734Sc.2201A>GSubstitution - Missense
LAMB1ENSG00000091136ENST00000222399p.Y381Hc.1141T>CSubstitution - Missense
SLC26A4ENSG00000091137ENST00000265715p.Y536Fc.1607A>TSubstitution - Missense
BCAP29ENSG00000075790ENST00000445771p.T122Mc.365C>TSubstitution - Missense
CTTNBP2ENSG00000077063ENST00000160373p.A535Ac.1605A>GSubstitution - coding silent
TMEM168ENSG00000146802ENST00000312814p.G404Gc.1212T>CSubstitution - coding silent
ZNF786ENSG00000197362ENST00000491431p.N461Sc.1382A>GSubstitution - Missense
EZH2ENSG00000106462ENST00000350995p.A443Ac.1329T>CSubstitution - coding silent
OR2A14ENSG00000221938ENST00000408899p.S118Pc.352T>CSubstitution - Missense
OR2F1ENSG00000213215ENST00000392899p.Y218Cc.653A>GSubstitution - Missense
KCNH2ENSG00000055118ENST00000430723p.A805fs*18c.2413delGDeletion - Frameshift
GCKENSG00000106633ENST00000345378p.V208Ec.623T>ASubstitution - Missense
CHPF2ENSG00000033100ENST00000035307p.T524Ic.1571C>TSubstitution - Missense
ENST00000450194p.?c.2016-1G>TUnknown
OGDHENSG00000105953ENST00000222673p.G196Gc.588A>GSubstitution - coding silent
OGDHENSG00000105953ENST00000443864p.G196Gc.588A>GSubstitution - coding silent
OGDHENSG00000105953ENST00000222673p.R843Rc.2529A>GSubstitution - coding silent
OGDHENSG00000105953ENST00000543843p.R794Rc.2382A>GSubstitution - coding silent
ABCA13ENSG00000179869ENST00000435803p.L3183Fc.9547C>TSubstitution - Missense
ENST00000319379p.L3128Fc.9382C>TSubstitution - Missense
WIPI2ENSG00000157954ENST00000288828p.A30Ac.90A>CSubstitution - coding silent
RRM2BENSG00000048392ENST00000251810p.K37fs*57c.110delADeletion - Frameshift
VPS13BENSG00000132549ENST00000358544p.E3477Ec.10431A>GSubstitution - coding silent
STAG3ENSG00000066923ENST00000426455p.?c.1353-5A>GUnknown
DCAF13ENSG00000164934ENST00000297579p.E137Gc.410A>GSubstitution - Missense
MSRAENSG00000175806ENST00000317173p.Y207Cc.620A>GSubstitution - Missense
RRM2BENSG00000048392ENST00000251810p.L347Lc.1039T>CSubstitution - coding silent
ZFHX3ENSG00000140836ENST00000268489p.S2098Ac.6292T>GSubstitution - Missense
DHX38ENSG00000140829ENST00000268482p.Y611fs*6c.1829_1830insGInsertion - Frameshift
HPENSG00000257017ENST00000228226p.K206Ec.616A>GSubstitution - Missense
MRI1ENSG00000037757ENST00000040663p.R149Hc.446G>ASubstitution - Missense
ENST00000304105p.G299Gc.897G>CSubstitution - coding silent
PKN1ENSG00000123143ENST00000342216p.?c.40-4G>AUnknown
PKN1ENSG00000123143ENST00000242783p.?c.22-4G>AUnknown
CPAMD8ENSG00000160111ENST00000291440p.Y395Hc.1183T>CSubstitution - Missense
NWD1ENSG00000188039ENST00000524140p.V1184Gc.3551T>GSubstitution - Missense
CHERPENSG00000085872ENST00000546361p.?c.675-8C>TUnknown
OR10H1ENSG00000186723ENST00000334920p.N133Tc.398A>CSubstitution - Missense
ENSG00000204957ENST00000378108p.P8Pc.24A>GSubstitution - coding silent
ATP1A3ENSG00000105409ENST00000302102p.Y105Cc.314A>GSubstitution - Missense
ATP1A3ENSG00000105409ENST00000302102p.R19Hc.56G>ASubstitution - Missense
NR2F6ENSG00000160113ENST00000291442p.R294Lc.881G>TSubstitution - Missense
ENST00000319396p.N651Sc.1952A>GSubstitution - Missense
ENST00000319396p.N651Sc.1952A>GSubstitution - Missense
FSD1ENSG00000105255ENST00000221856p.?c.1040-10T>GUnknown
ZNF260ENSG00000254004ENST00000523638p.S195Gc.583A>GSubstitution - Missense
NPHS1ENSG00000161270ENST00000378910p.A556Ac.1668A>GSubstitution - coding silent
ZNF573ENSG00000189144ENST00000590414p.A310Vc.929C>TSubstitution - Missense
MATKENSG00000007264ENST00000310132p.L312Pc.935T>CSubstitution - Missense
MECOMENSG00000085276ENST00000392736p.S615Nc.1844G>ASubstitution - Missense
SIENSG00000090402ENST00000264382p.G618Gc.1854A>GSubstitution - coding silent
OXNAD1ENSG00000154814ENST00000285083p.?c.120-9C>TUnknown
MCF2L2ENSG00000053524ENST00000328913p.?c.2918+6T>CUnknown
USP13ENSG00000058056ENST00000263966p.A103Vc.308C>TSubstitution - Missense
TNFSF10ENSG00000121858ENST00000241261p.R227Rc.681A>GSubstitution - coding silent
PCDHGA5ENSG00000253485ENST00000518069p.L304Lc.912A>GSubstitution - coding silent
NR3C1ENSG00000113580ENST00000231509p.Y334*c.1002T>GSubstitution - Nonsense
NR3C1ENSG00000113580ENST00000415690p.Y334*c.1002T>GSubstitution - Nonsense
FCHSD1ENSG00000197948ENST00000435817p.P611fs*52c.1832delCDeletion - Frameshift
GPR151ENSG00000173250ENST00000311104p.G25Gc.75A>GSubstitution - coding silent
RBM27ENSG00000091009ENST00000265271p.S780fs*8c.2335delTDeletion - Frameshift
SH3RF2ENSG00000156463ENST00000359120p.N260Tc.779A>CSubstitution - Missense
TSC1ENSG00000165699ENST00000298552p.?c.2975+3A>GUnknown
PDE6AENSG00000132915ENST00000255266p.G850fs*>11c.2549delGDeletion - Frameshift
SURF4ENSG00000148248ENST00000371991p.*187Qc.559T>CNonstop extension
NM_014866.1p.S1668Gc.5002A>GSubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.E790Ec.2370A>GSubstitution - coding silent
PRUNE2ENSG00000106772ENST00000376718p.D787Hc.2359G>CSubstitution - Missense
PCSK5ENSG00000099139ENST00000545128p.K739Ec.2215A>GSubstitution - Missense
TRPM6ENSG00000119121ENST00000451710p.I1729Tc.5186T>CSubstitution - Missense
TRPM6ENSG00000119121ENST00000360774p.I1725Tc.5174T>CSubstitution - Missense
TRPM6ENSG00000119121ENST00000451710p.F1457Cc.4370T>GSubstitution - Missense
TRPM6ENSG00000119121ENST00000360774p.F1457Cc.4370T>GSubstitution - Missense
FBXW5ENSG00000159069ENST00000325285p.V249Dc.746T>ASubstitution - Missense
TLE1ENSG00000196781ENST00000376499p.I533Vc.1597A>GSubstitution - Missense
CEP78ENSG00000148019ENST00000376597p.S445Gc.1333A>GSubstitution - Missense
TLE4ENSG00000106829ENST00000376520p.F343Vc.1027T>GSubstitution - Missense
VPS13AENSG00000197969ENST00000360280p.S1752fs*10c.5250delTDeletion - Frameshift
VPS13AENSG00000197969ENST00000357409p.S1752fs*10c.5250delTDeletion - Frameshift
CDK20ENSG00000156345ENST00000325303p.G43Dc.128G>ASubstitution - Missense
DAPK1ENSG00000196730ENST00000408954p.T612Tc.1836G>ASubstitution - coding silent
NTRK2ENSG00000148053ENST00000376214p.G195Gc.585T>GSubstitution - coding silent
NTRK2ENSG00000148053ENST00000376214p.G195Gc.585T>GSubstitution - coding silent
IARSENSG00000196305ENST00000375643p.L997Pc.2990T>CSubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.V4337Gc.13010T>GSubstitution - Missense
PIAS4ENSG00000105229ENST00000262971p.?c.540-8A>GUnknown
ZFP36ENSG00000128016ENST00000248673p.L277Pc.830T>CSubstitution - Missense
EEF2ENSG00000167658ENST00000309311p.G210Gc.630T>CSubstitution - coding silent
ATCAYENSG00000167654ENST00000301260p.Y298Hc.892T>CSubstitution - Missense
HIPK4ENSG00000160396ENST00000291823p.T117Ac.349A>GSubstitution - Missense
PSMC4ENSG00000013275ENST00000157812p.R200*c.598C>TSubstitution - Nonsense
FCGBPENSG00000090920ENST00000221347p.G4916Gc.14748C>TSubstitution - coding silent
BCKDHAENSG00000248098ENST00000269980p.G156Vc.467G>TSubstitution - Missense
B3GNT8ENSG00000177191ENST00000321702p.G308Gc.924T>CSubstitution - coding silent
PDE1CENSG00000154678ENST00000396193p.I759Ic.2277T>CSubstitution - coding silent
CCDC129ENSG00000180347ENST00000407970p.D83Ac.248A>CSubstitution - Missense
FMR1ENSG00000102081ENST00000370475p.W80Rc.238T>CSubstitution - Missense
ATP11CENSG00000101974ENST00000327569p.H875Pc.2624A>CSubstitution - Missense
EGFL6ENSG00000198759ENST00000361306p.D129Dc.387T>CSubstitution - coding silent
HCFC1ENSG00000172534ENST00000310441p.T738Ac.2212A>GSubstitution - Missense
NM_005334.1p.T641Ac.1921A>GSubstitution - Missense
KDM3BENSG00000120733ENST00000314358p.?c.4753+2T>CUnknown
REEP2ENSG00000132563ENST00000254901p.M118Vc.352A>GSubstitution - Missense
ENST00000378129p.D111Gc.332A>GSubstitution - Missense
SLC6A3ENSG00000142319ENST00000270349p.Y593Hc.1777T>CSubstitution - Missense
PCDHA7ENSG00000204963ENST00000525929p.E496Gc.1487A>GSubstitution - Missense
PCDHA4ENSG00000204967ENST00000378125p.E496Gc.1487A>GSubstitution - Missense
PCDHB7ENSG00000113212ENST00000231137p.I126Nc.377T>ASubstitution - Missense
PCDHB2ENSG00000112852ENST00000194155p.L674Lc.2022G>TSubstitution - coding silent
SMC2ENSG00000136824ENST00000286398p.S1144Sc.3432A>CSubstitution - coding silent
GRIN3AENSG00000198785ENST00000361820p.Q201fs*6c.601delCDeletion - Frameshift
CYLC2ENSG00000155833ENST00000374798p.G164fs*69c.484delADeletion - Frameshift
GRIN3AENSG00000198785ENST00000361820p.V1013Ac.3038T>CSubstitution - Missense
ZNF189ENSG00000136870ENST00000339664p.K258Nc.774A>CSubstitution - Missense
ZNF462ENSG00000148143ENST00000277225p.C2256Cc.6768T>CSubstitution - coding silent
ZNF462ENSG00000148143ENST00000277225p.T792Pc.2374A>CSubstitution - Missense
FKBP15ENSG00000119321ENST00000238256p.V181Ec.542T>ASubstitution - Missense
FKBP15ENSG00000119321ENST00000446284p.V206Ec.617T>ASubstitution - Missense
OR2K2ENSG00000171133ENST00000374428p.N94Nc.282T>CSubstitution - coding silent
OR2K2ENSG00000171133ENST00000302681p.N65Nc.195T>CSubstitution - coding silent
SVEP1ENSG00000165124ENST00000401783p.C569Wc.1707T>GSubstitution - Missense
TRMT11ENSG00000066651ENST00000334379p.Y377Cc.1130A>GSubstitution - Missense
CLVS2ENSG00000146352ENST00000275162p.T26Tc.78G>ASubstitution - coding silent
HIVEP1ENSG00000095951ENST00000379388p.L2693Lc.8079A>GSubstitution - coding silent
FAM184AENSG00000111879ENST00000338891p.D786Gc.2357A>GSubstitution - Missense
ENPP3ENSG00000154269ENST00000357639p.G38Gc.114A>TSubstitution - coding silent
ENPP3ENSG00000154269ENST00000427148p.G4Gc.12A>TSubstitution - coding silent
PTPRKENSG00000152894ENST00000368213p.?c.3114+6T>CUnknown
PTPRKENSG00000152894ENST00000368213p.D1008Dc.3024T>CSubstitution - coding silent
COL12A1ENSG00000111799ENST00000322507p.T1469Ac.4405A>GSubstitution - Missense
SLC18B1ENSG00000146409ENST00000275227p.T449Pc.1345A>CSubstitution - Missense
MDN1ENSG00000112159ENST00000369393p.Q4239Pc.12716A>CSubstitution - Missense
CGAENSG00000135346ENST00000369582p.G97Gc.291T>GSubstitution - coding silent
SYNCRIPENSG00000135316ENST00000369622p.D280Dc.840T>CSubstitution - coding silent
SYNCRIPENSG00000135316ENST00000355238p.D280Dc.840T>CSubstitution - coding silent
C17orf102ENSG00000197322ENST00000357754p.P18fs*19c.51delGDeletion - Frameshift
SUZ12ENSG00000178691ENST00000322652p.G352Gc.1056A>CSubstitution - coding silent
SLC35G3ENSG00000164729ENST00000297307p.T304Tc.912T>CSubstitution - coding silent
SYNRGENSG00000006114ENST00000346661p.R998Wc.2992C>TSubstitution - Missense
EMC6ENSG00000127774ENST00000397133p.N22Sc.65A>GSubstitution - Missense
TADA2AENSG00000108264ENST00000394395p.T427Pc.1279A>CSubstitution - Missense
TADA2AENSG00000108264ENST00000394395p.T427Pc.1279A>CSubstitution - Missense
DHRS11ENSG00000108272ENST00000251312p.T169Ac.505A>GSubstitution - Missense
THADAENSG00000115970ENST00000405975p.Y556Nc.1666T>ASubstitution - Missense
MSH6ENSG00000116062ENST00000234420p.V800Ac.2399T>CSubstitution - Missense
MSH2ENSG00000095002ENST00000233146p.V606delVc.1816_1818delGTCDeletion - In frame
RHOQENSG00000119729ENST00000238738p.V114Vc.342A>GSubstitution - coding silent
NRXN1ENSG00000179915ENST00000404971p.G433Wc.1297G>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000406316p.G393Wc.1177G>TSubstitution - Missense
STAT3ENSG00000168610ENST00000264657p.?c.1600+2T>CUnknown
ENST00000225973p.D172Gc.515A>GSubstitution - Missense
AOC3ENSG00000131471ENST00000308423p.D652Ac.1955A>CSubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.E1027Dc.3081G>TSubstitution - Missense
ATXN7L3ENSG00000087152ENST00000389384p.A18Dc.53C>ASubstitution - Missense
HDAC5ENSG00000108840ENST00000393622p.?c.3164-7T>CUnknown
DUSP3ENSG00000108861ENST00000226004p.I109Vc.325A>GSubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.T312Ac.934A>GSubstitution - Missense
CACNA1GENSG00000006283ENST00000416767p.T312Ac.934A>GSubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.T312Ac.934A>GSubstitution - Missense
KIF18BENSG00000186185ENST00000339151p.S195Sc.585A>GSubstitution - coding silent
NMT1ENSG00000136448ENST00000258960p.I469Mc.1407A>GSubstitution - Missense
NLRP1ENSG00000091592ENST00000572272p.S821Ic.2462G>TSubstitution - Missense
RAD51CENSG00000108384ENST00000337432p.L205Pc.614T>CSubstitution - Missense
SEPT4ENSG00000108387ENST00000393086p.?c.3+2T>GUnknown
FXYD1ENSG00000266964ENST00000351325p.E75Kc.223G>ASubstitution - Missense
GRAMD1AENSG00000089351ENST00000317991p.S83Tc.248G>CSubstitution - Missense
ZNF211ENSG00000121417ENST00000407202p.V151Ac.452T>CSubstitution - Missense
NM_016125.2p.F171Lc.511T>CSubstitution - Missense
ENSG00000272333ENST00000222270p.S1968Fc.5903C>TSubstitution - Missense
CACTINENSG00000105298ENST00000429344p.E538_A539insGEc.1593_1594insGAGGGCInsertion - In frame
CACTINENSG00000105298ENST00000221899p.E470_A471insGEc.1389_1390insGAGGGCInsertion - In frame
TJP3ENSG00000105289ENST00000262968p.?c.1493-2A>GUnknown
ZNF566ENSG00000186017ENST00000434377p.K107fs*46c.321delADeletion - Frameshift
PLS1ENSG00000120756ENST00000337777p.L136Pc.407T>CSubstitution - Missense
DCLK2ENSG00000170390ENST00000302176p.V540Gc.1619T>GSubstitution - Missense
TTC29ENSG00000137473ENST00000325106p.?c.177-5T>CUnknown
OTUD4ENSG00000164164ENST00000454497p.K486Qc.1456A>CSubstitution - Missense
OTUD4ENSG00000164164ENST00000447906p.K551Qc.1651A>CSubstitution - Missense
USP38ENSG00000170185ENST00000307017p.N819Tc.2456A>CSubstitution - Missense
LRBAENSG00000198589ENST00000357115p.?c.2367+2T>CUnknown
TDO2ENSG00000151790ENST00000536354p.A292Gc.875C>GSubstitution - Missense
GUCY1B3ENSG00000061918ENST00000264424p.I422Tc.1265T>CSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.G2612Wc.7834G>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.G2612Wc.7834G>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.?c.13001-9T>GUnknown
SLC34A2ENSG00000157765ENST00000382051p.?c.927+2T>CUnknown
FBN2ENSG00000138829ENST00000508053p.Y2521Dc.7561T>GSubstitution - Missense
SLC12A2ENSG00000064651ENST00000262461p.H195Yc.583C>TSubstitution - Missense
LOXENSG00000113083ENST00000231004p.N173fs*64c.518delADeletion - Frameshift
PDLIM4ENSG00000131435ENST00000253754p.G71Gc.213C>TSubstitution - coding silent
FBN2ENSG00000138829ENST00000508053p.P1623Lc.4868C>TSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.P1623Lc.4868C>TSubstitution - Missense
SEC24AENSG00000113615ENST00000398844p.S681Sc.2043T>CSubstitution - coding silent
SKP1ENSG00000113558ENST00000353411p.I135Tc.404T>CSubstitution - Missense
VCANENSG00000038427ENST00000265077p.P814Pc.2442T>ASubstitution - coding silent
FAM9BENSG00000177138ENST00000327220p.D179Nc.535G>ASubstitution - Missense
FBXO15ENSG00000141665ENST00000419743p.L489Lc.1467T>GSubstitution - coding silent
FBXO15ENSG00000141665ENST00000269500p.L413Lc.1239T>GSubstitution - coding silent
LAMA1ENSG00000101680ENST00000389658p.W313Rc.937T>CSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.T964Ac.2890A>GSubstitution - Missense
CBLN2ENSG00000141668ENST00000269503p.L202Rc.605T>GSubstitution - Missense
ZNF236ENSG00000130856ENST00000543926p.T1356Ac.4066A>GSubstitution - Missense
GRIN3BENSG00000116032ENST00000234389p.R560Wc.1678C>TSubstitution - Missense
SOGA2ENSG00000168502ENST00000359865p.A332fs*7c.991delGDeletion - Frameshift
NDUFV2ENSG00000178127ENST00000318388p.?c.183+8T>CUnknown
MYH9ENSG00000100345ENST00000216181p.L212Lc.634C>TSubstitution - coding silent
MYH9ENSG00000100345ENST00000216181p.T1904Tc.5712T>GSubstitution - coding silent
RAVER1ENSG00000161847ENST00000293677p.S354Sc.1062T>CSubstitution - coding silent
DDX17ENSG00000100201ENST00000403230p.K156delKc.466_468delAAGDeletion - In frame
DDX17ENSG00000100201ENST00000381633p.K77delKc.229_231delAAGDeletion - In frame
TRIOBPENSG00000100106ENST00000406386p.?c.6936+6T>CUnknown
POLR2FENSG00000100142ENST00000442738p.I92Ic.276T>CSubstitution - coding silent
SOX10ENSG00000100146ENST00000396884p.M289Tc.866T>CSubstitution - Missense
GGA1ENSG00000100083ENST00000343632p.?c.751-2A>GUnknown
CACNA1IENSG00000100346ENST00000402142p.I719Nc.2156T>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000404898p.I684Nc.2051T>ASubstitution - Missense
GRIK2ENSG00000164418ENST00000318991p.K544Rc.1631A>GSubstitution - Missense
ACO2ENSG00000100412ENST00000216254p.T515Tc.1545G>ASubstitution - coding silent
KIAA1919ENSG00000173214ENST00000368847p.I298Vc.892A>GSubstitution - Missense
REV3LENSG00000009413ENST00000358835p.S2118Ic.6353G>TSubstitution - Missense
NM_002912.1p.S2040Ic.6119G>TSubstitution - Missense
DCBLD1ENSG00000164465ENST00000338728p.L144fs*2c.426delTDeletion - Frameshift
KIAA1586ENSG00000168116ENST00000370733p.A705Ac.2115T>GSubstitution - coding silent
ZNF451ENSG00000112200ENST00000357489p.G166Gc.498G>ASubstitution - coding silent
DSTENSG00000151914ENST00000244364p.G3044Gc.9132A>GSubstitution - coding silent
BAI3ENSG00000135298ENST00000370598p.N1462Tc.4385A>CSubstitution - Missense
SYBUENSG00000147642ENST00000399066p.P518Pc.1554T>CSubstitution - coding silent
DSPENSG00000096696ENST00000379802p.L510Pc.1529T>CSubstitution - Missense
RIMS1ENSG00000079841ENST00000521978p.K1550fs*4c.4645delADeletion - Frameshift
EXT1ENSG00000182197ENST00000378204p.F143Lc.427T>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.S2527Pc.7579T>CSubstitution - Missense
ENST00000262365_v68p.G108Dc.323G>ASubstitution - Missense
ZHX2ENSG00000178764ENST00000314393p.T167Ac.499A>GSubstitution - Missense
SNTB1ENSG00000172164ENST00000395601p.A176Ac.528G>ASubstitution - coding silent
OR13D1ENSG00000179055ENST00000318763p.E143Ac.428A>CSubstitution - Missense
OR13C4ENSG00000148136ENST00000277216p.L178Vc.532T>GSubstitution - Missense
SMC2ENSG00000136824ENST00000286398p.S1144Sc.3432A>CSubstitution - coding silent
SV2CENSG00000122012ENST00000502798p.G114Gc.342C>TSubstitution - coding silent
COX6A1P2ENSG00000226976ENST00000423336p.R22Wc.64C>TSubstitution - Missense
UBR2ENSG00000024048ENST00000372899p.?c.5126+7A>GUnknown
ENST00000539430p.K230Rc.689A>GSubstitution - Missense
MEPCEENSG00000146834ENST00000310512p.L401Lc.1203G>ASubstitution - coding silent
MOGAT3ENSG00000106384ENST00000440203p.W67Rc.199T>CSubstitution - Missense
PLOD3ENSG00000106397ENST00000223127p.R297fs*44c.882_883insCInsertion - Frameshift
ENST00000319509_v65p.A333Ac.999C>ASubstitution - coding silent
ORC5ENSG00000164815ENST00000447452p.Y204Yc.612T>CSubstitution - coding silent
XM_379909.2p.K371fs*3c.1113delADeletion - Frameshift
C7orf26ENSG00000146576ENST00000344417p.L148Lc.442T>CSubstitution - coding silent
C7orf26ENSG00000146576ENST00000344417p.F181Lc.541T>CSubstitution - Missense
ZNF107ENSG00000196247ENST00000395391p.K494Nc.1482A>CSubstitution - Missense
AIMP2ENSG00000106305ENST00000223029p.T231Ac.691A>GSubstitution - Missense
EIF4HENSG00000106682ENST00000265753p.G139Gc.417T>CSubstitution - coding silent
TBL2ENSG00000106638ENST00000305632p.R361Wc.1081C>TSubstitution - Missense
POM121ENSG00000196313ENST00000257622p.S20Sc.60T>CSubstitution - coding silent
TUBB4BENSG00000188229ENST00000340384p.I155Tc.464T>CSubstitution - Missense
C9orf173ENSG00000197768ENST00000388931p.W142Rc.424T>CSubstitution - Missense
GTF2IRD1ENSG00000006704ENST00000265755p.N950Sc.2849A>GSubstitution - Missense
DMRTA1ENSG00000176399ENST00000325870p.G399Gc.1197T>GSubstitution - coding silent
IFNA4ENSG00000236637ENST00000421715p.S160Rc.478A>CSubstitution - Missense
SLC24A2ENSG00000155886ENST00000341998p.A304Ac.912A>CSubstitution - coding silent
MTMR8ENSG00000102043ENST00000374852p.D681Gc.2042A>GSubstitution - Missense
TROENSG00000067445ENST00000173898p.K466Nc.1398A>CSubstitution - Missense
TROENSG00000067445ENST00000173898p.I512Tc.1535T>CSubstitution - Missense
TROENSG00000067445ENST00000319167p.I512Tc.1535T>CSubstitution - Missense
ITIH6ENSG00000102313ENST00000218436p.Q615Qc.1845G>ASubstitution - coding silent
STARD8ENSG00000130052ENST00000374599p.V369Gc.1106T>GSubstitution - Missense
STARD8ENSG00000130052ENST00000252336p.V289Gc.866T>GSubstitution - Missense
CYLC1ENSG00000183035ENST00000329312p.E501Gc.1502A>GSubstitution - Missense
IL12RB1ENSG00000096996ENST00000430026p.D390Gc.1169A>GSubstitution - Missense
ATP8B3ENSG00000130270ENST00000525591p.W518Gc.1552T>GSubstitution - Missense
ATP8B3ENSG00000130270ENST00000539485p.W565Gc.1693T>GSubstitution - Missense
HOMER3ENSG00000051128ENST00000355887p.E169Vc.506A>TSubstitution - Missense
CRTC1ENSG00000105662ENST00000338797p.S585fs*9c.1753delTDeletion - Frameshift
CRTC1ENSG00000105662ENST00000321949p.S569fs*9c.1705delTDeletion - Frameshift
CRLF1ENSG00000006016ENST00000392386p.G161Wc.481G>TSubstitution - Missense
ENST00000344519_v61p.A23Ac.69A>GSubstitution - coding silent
CILP2ENSG00000160161ENST00000291495p.A811Tc.2431G>ASubstitution - Missense
NM_012116.2p.T268Ac.802A>GSubstitution - Missense
IRF2BP1ENSG00000170604ENST00000302165p.A407Vc.1220C>TSubstitution - Missense
ERCC1ENSG00000012061ENST00000300853p.V126Ac.377T>CSubstitution - Missense
CLASRPENSG00000104859ENST00000221455p.R83Rc.249T>CSubstitution - coding silent
DHX34ENSG00000134815ENST00000328771p.A557Tc.1669G>ASubstitution - Missense
CARD8ENSG00000105483ENST00000391898p.S25Sc.75T>CSubstitution - coding silent
PLA2G4CENSG00000105499ENST00000413144p.E442Ac.1325A>CSubstitution - Missense
SEZ6L2ENSG00000174938ENST00000308713p.S861Sc.2583T>CSubstitution - coding silent
SEZ6L2ENSG00000174938ENST00000350527p.S804Sc.2412T>CSubstitution - coding silent
MAZENSG00000103495ENST00000322945p.?c.1280-2A>GUnknown
SH2B1ENSG00000178188ENST00000359285p.E583Dc.1749G>TSubstitution - Missense
ZNF48ENSG00000180035ENST00000320159p.H297Rc.890A>GSubstitution - Missense
MAPK3ENSG00000102882ENST00000263025p.P40Pc.120G>TSubstitution - coding silent
NCKAP5ENSG00000176771ENST00000409261p.S351Pc.1051T>CSubstitution - Missense
NCKAP5ENSG00000176771ENST00000405974p.S190Pc.568T>CSubstitution - Missense
HRH1ENSG00000196639ENST00000397056p.D73Gc.218A>GSubstitution - Missense
SLC9C1ENSG00000172139ENST00000305815p.P16Pc.48T>CSubstitution - coding silent
PHLDB2ENSG00000144824ENST00000393923p.N960Sc.2879A>GSubstitution - Missense
PLCXD2ENSG00000240891ENST00000393934p.E182Gc.545A>GSubstitution - Missense
HCLS1ENSG00000180353ENST00000314583p.S232Pc.694T>CSubstitution - Missense
FBXO40ENSG00000163833ENST00000338040p.?c.1914+6T>CUnknown
WNT7AENSG00000154764ENST00000285018p.R55Wc.163C>TSubstitution - Missense
CLDN18ENSG00000066405ENST00000183605p.V9Gc.26T>GSubstitution - Missense
EPHB1ENSG00000154928ENST00000398015p.V718Mc.2152G>ASubstitution - Missense
ARID1BENSG00000049618ENST00000346085p.Y1335Cc.4004A>GSubstitution - Missense
ARID1BENSG00000049618ENST00000275248p.Y1317Cc.3950A>GSubstitution - Missense
SCAF8ENSG00000213079ENST00000367178p.F634Sc.1901T>CSubstitution - Missense
NM_001453.1p.S166Sc.498C>TSubstitution - coding silent
STK31ENSG00000196335ENST00000355870p.V45Ac.134T>CSubstitution - Missense
STK31ENSG00000196335ENST00000355870p.D389Ac.1166A>CSubstitution - Missense
IGF2BP3ENSG00000136231ENST00000258729p.R86*c.256C>TSubstitution - Nonsense
DNAH11ENSG00000105877ENST00000328843p.L658Lc.1974A>GSubstitution - coding silent
HNRNPA2B1ENSG00000122566ENST00000354667p.?c.757+6T>CUnknown
HNRNPA2B1ENSG00000122566ENST00000356674p.?c.721+6T>CUnknown
NOD1ENSG00000106100ENST00000222823p.C241Gc.721T>GSubstitution - Missense
ENST00000355837p.Y43Yc.129C>TSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.Y3560Sc.10679A>CSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.F4445Vc.13333T>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.P301Tc.901C>ASubstitution - Missense
FLNAENSG00000196924ENST00000369850p.H90Rc.269A>GSubstitution - Missense
PCYT1BENSG00000102230ENST00000379144p.S335Sc.1005G>ASubstitution - coding silent
PCYT1BENSG00000102230ENST00000379145p.S317Sc.951G>ASubstitution - coding silent
EIF1AXENSG00000173674ENST00000379607p.E25Ec.75A>GSubstitution - coding silent
DMDENSG00000198947ENST00000378677p.V1727Ac.5180T>CSubstitution - Missense
DMDENSG00000198947ENST00000378677p.V1727Ac.5180T>CSubstitution - Missense
FTHL17ENSG00000132446ENST00000359202p.Y35Cc.104A>GSubstitution - Missense
MAGEB2ENSG00000099399ENST00000378988p.F271fs*18c.811_887del77Deletion - Frameshift
MYO7BENSG00000169994ENST00000428314p.A162Ac.486T>GSubstitution - coding silent
TSNENSG00000211460ENST00000389682p.L98Sc.293T>CSubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.?c.530-1G>CUnknown
EN1ENSG00000163064ENST00000295206p.H157Yc.469C>TSubstitution - Missense
STK36ENSG00000163482ENST00000295709p.T861Tc.2583T>CSubstitution - coding silent
ASIC4ENSG00000072182ENST00000358078p.L355Lc.1065G>ASubstitution - coding silent
DOCK10ENSG00000135905ENST00000258390p.D1066Gc.3197A>GSubstitution - Missense
OBSL1ENSG00000124006ENST00000404537p.L307Pc.920T>CSubstitution - Missense
COL4A3ENSG00000169031ENST00000396578p.?c.4929-4T>CUnknown
COL4A3ENSG00000169031ENST00000396578p.L648Lc.1944C>TSubstitution - coding silent
NGEFENSG00000066248ENST00000264051p.V367Dc.1100T>ASubstitution - Missense
NGEFENSG00000066248ENST00000373552p.V275Dc.824T>ASubstitution - Missense
ALPPL2ENSG00000163286ENST00000295453p.T116Ac.346A>GSubstitution - Missense
C2orf57ENSG00000177673ENST00000313965p.L156Lc.468A>GSubstitution - coding silent
PSMD1ENSG00000173692ENST00000308696p.?c.1998+5A>GUnknown
SH3BP4ENSG00000130147ENST00000344528p.R770Cc.2308C>TSubstitution - Missense
UGT1A6ENSG00000167165ENST00000305139p.G173Gc.519T>CSubstitution - coding silent
RTN4ENSG00000115310ENST00000394609p.?c.34+4T>CUnknown
SPTBN1ENSG00000115306ENST00000356805p.N1053fs*42c.3154delADeletion - Frameshift
SPTBN1ENSG00000115306ENST00000333896p.N1040fs*42c.3115delADeletion - Frameshift
AHSA2ENSG00000173209ENST00000357022p.L65Sc.194T>CSubstitution - Missense
ENST00000430934p.L228Sc.683T>CSubstitution - Missense
NM_053025p.K759Nc.2277A>CSubstitution - Missense
PARP15ENSG00000173200ENST00000464300p.E396Ac.1187A>CSubstitution - Missense
ABTB1ENSG00000114626ENST00000232744p.E252fs*102c.748delCDeletion - Frameshift
COL6A5ENSG00000172752ENST00000265379p.T2329Sc.6985A>TSubstitution - Missense
COL6A5ENSG00000172752ENST00000312481p.T368Sc.1102A>TSubstitution - Missense
PLXND1ENSG00000004399ENST00000324093p.A1590Tc.4768G>ASubstitution - Missense
TBC1D22AENSG00000054611ENST00000337137p.G237Gc.711T>CSubstitution - coding silent
CELSR1ENSG00000075275ENST00000262738p.C1675Cc.5025T>CSubstitution - coding silent
CRELD2ENSG00000184164ENST00000328268p.Y133Cc.398A>GSubstitution - Missense
CHKBENSG00000100288ENST00000406938p.P204fs*7c.611delCDeletion - Frameshift
LARS2ENSG00000011376ENST00000265537p.M583Lc.1747A>TSubstitution - Missense
ZNF502ENSG00000196653ENST00000296091p.K321fs*134c.959delADeletion - Frameshift
ZNF445ENSG00000185219ENST00000396077p.S581Rc.1741A>CSubstitution - Missense
KIF9ENSG00000088727ENST00000265529p.?c.367-3T>AUnknown
LRRC2ENSG00000163827ENST00000296144p.C303Gc.907T>GSubstitution - Missense
MAST4ENSG00000069020ENST00000403625p.T2328Pc.6982A>CSubstitution - Missense
BDP1ENSG00000145734ENST00000358731p.I992Mc.2976A>GSubstitution - Missense
OCLNENSG00000197822ENST00000396442p.?c.892-9T>GUnknown
AGGF1ENSG00000164252ENST00000312916p.T647Ac.1939A>GSubstitution - Missense
ABCA9ENSG00000154258ENST00000340001p.G1163Wc.3487G>TSubstitution - Missense
ENST00000316893p.G387Sc.1159G>ASubstitution - Missense
ASGR2ENSG00000161944ENST00000380952p.E208Gc.623A>GSubstitution - Missense
KCTD11ENSG00000213859ENST00000333751p.V117Ac.350T>CSubstitution - Missense
REV1ENSG00000135945ENST00000258428p.A120Ac.360T>CSubstitution - coding silent
SHANK3ENSG00000251322ENST00000262795p.L1301Lc.3901C>TSubstitution - coding silent
KIAA0195ENSG00000177728ENST00000314256p.K120*c.358A>TSubstitution - Nonsense
IL1RL1ENSG00000115602ENST00000311734p.C181Cc.543T>CSubstitution - coding silent
IL1R2ENSG00000115590ENST00000393414p.T109Tc.327T>GSubstitution - coding silent
ZCWPW2ENSG00000206559ENST00000383768p.L101Pc.302T>CSubstitution - Missense
TMPPEENSG00000188167ENST00000342462p.F130Vc.388T>GSubstitution - Missense
BCL2L11ENSG00000153094ENST00000393256p.?c.498+2T>CUnknown
VILLENSG00000136059ENST00000283713p.?c.1950+5G>TUnknown
ITGA9ENSG00000144668ENST00000264741p.A325fs*30c.969delGDeletion - Frameshift
NUDT12ENSG00000112874ENST00000230792p.N461Tc.1382A>CSubstitution - Missense
STPG2ENSG00000163116ENST00000295268p.T268Tc.804T>CSubstitution - coding silent
UNC5CENSG00000182168ENST00000453304p.?c.2137-2A>TUnknown
UNC5CENSG00000182168ENST00000453304p.D434Yc.1300G>TSubstitution - Missense
KCNN2ENSG00000080709ENST00000512097p.P310Pc.930A>TSubstitution - coding silent
DCP2ENSG00000172795ENST00000389063p.T264Tc.792T>CSubstitution - coding silent
GOT2ENSG00000125166ENST00000245206p.Y420Cc.1259A>GSubstitution - Missense
GOT2ENSG00000125166ENST00000245206p.M402Tc.1205T>CSubstitution - Missense
MMP15ENSG00000102996ENST00000219271p.H234Hc.702T>CSubstitution - coding silent
GPR56ENSG00000205336ENST00000379696p.N148Tc.443A>CSubstitution - Missense
FEM1CENSG00000145780ENST00000274457p.L169Pc.506T>CSubstitution - Missense
CDH5ENSG00000179776ENST00000341529p.N384Tc.1151A>CSubstitution - Missense
ESRP2ENSG00000103067ENST00000473183p.Y630Cc.1889A>GSubstitution - Missense
ESRP2ENSG00000103067ENST00000473183p.Y630Cc.1889A>GSubstitution - Missense
C2orf78ENSG00000187833ENST00000409561p.C702Cc.2106T>CSubstitution - coding silent
ENST00000342345p.C672Cc.2016T>CSubstitution - coding silent
ALMS1ENSG00000116127ENST00000264448p.A2226Ac.6678T>CSubstitution - coding silent
RAB11FIP5ENSG00000135631ENST00000258098p.S251Pc.751T>CSubstitution - Missense
GCFC2ENSG00000005436ENST00000321027p.R201Rc.601A>CSubstitution - coding silent
LOXL3ENSG00000115318ENST00000264094p.Y744Cc.2231A>GSubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.R2651Cc.7951C>TSubstitution - Missense
MED12LENSG00000144893ENST00000474524p.K1449Kc.4347G>ASubstitution - coding silent
GFM1ENSG00000168827ENST00000486715p.G206Gc.618T>GSubstitution - coding silent
ARHGEF26ENSG00000114790ENST00000356448p.R145Hc.434G>ASubstitution - Missense
ARHGEF26ENSG00000114790ENST00000356448p.R145Hc.434G>ASubstitution - Missense
ENPEPENSG00000138792ENST00000265162p.Q570Qc.1710G>ASubstitution - coding silent
LRIT3ENSG00000183423ENST00000327908p.C370Gc.1108T>GSubstitution - Missense
SHOX2ENSG00000168779ENST00000425436p.A55Tc.163G>ASubstitution - Missense
SYNPO2ENSG00000172403ENST00000307142p.R1088Cc.3262C>TSubstitution - Missense
SYNPO2ENSG00000172403ENST00000307142p.R1088Cc.3262C>TSubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.L3216Pc.9647T>CSubstitution - Missense
PCDH10ENSG00000138650ENST00000264360p.V606Ac.1817T>CSubstitution - Missense
SCLT1ENSG00000151466ENST00000281142p.T145Tc.435T>CSubstitution - coding silent
HSPA4LENSG00000164070ENST00000508776p.?c.2046+2T>CUnknown
ZFP62ENSG00000196670ENST00000512132p.N191Sc.572A>GSubstitution - Missense
ENST00000376868p.G565Gc.1695C>TSubstitution - coding silent
PDZD2ENSG00000133401ENST00000282493p.T1311Pc.3931A>CSubstitution - Missense
FOXF2ENSG00000137273ENST00000259806p.A132Sc.394G>TSubstitution - Missense
NHSL1ENSG00000135540ENST00000342260p.G1090Gc.3270C>TSubstitution - coding silent
NM_020340.2p.R1443Qc.4328G>ASubstitution - Missense
MAP3K5ENSG00000197442ENST00000359015p.K878Nc.2634A>CSubstitution - Missense
SHPRHENSG00000146414ENST00000367505p.G458fs*26c.1371delADeletion - Frameshift
UTRNENSG00000152818ENST00000367545p.L1834Sc.5501T>CSubstitution - Missense
AIG1ENSG00000146416ENST00000275235p.F238Cc.713T>GSubstitution - Missense
GPR126ENSG00000112414ENST00000367609p.T1191Tc.3573A>GSubstitution - coding silent
AKAP12ENSG00000131016ENST00000402676p.L482Vc.1444C>GSubstitution - Missense
AKAP12ENSG00000131016ENST00000402676p.A1568Tc.4702G>ASubstitution - Missense
STXBP5ENSG00000164506ENST00000321680p.N165Sc.494A>GSubstitution - Missense
RMND1ENSG00000155906ENST00000367303p.K219Rc.656A>GSubstitution - Missense
ARID1BENSG00000049618ENST00000275248p.G457Ac.1370G>CSubstitution - Missense
CNOT3ENSG00000088038ENST00000221232p.S245fs*8c.732_733insCInsertion - Frameshift
NLRP12ENSG00000142405ENST00000345770p.E21Dc.63G>TSubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.A3503Pc.10507G>CSubstitution - Missense
LILRB5ENSG00000105609ENST00000450632p.?c.1511+4A>GUnknown
ZBTB46ENSG00000130584ENST00000245663p.A250Ac.750A>GSubstitution - coding silent
RTEL1ENSG00000258366ENST00000370018p.?c.477+2T>CUnknown
MYO18BENSG00000133454ENST00000335473p.Y1096Hc.3286T>CSubstitution - Missense
OSBP2ENSG00000184792ENST00000332585p.A130Ac.390G>ASubstitution - coding silent
C2orf16ENSG00000221843ENST00000408964p.T1379Ac.4135A>GSubstitution - Missense
RASGRP3ENSG00000152689ENST00000403687p.S249Sc.747T>CSubstitution - coding silent
NM_206943.1p.C421*c.1263C>ASubstitution - Nonsense
LTBP1ENSG00000049323ENST00000407925p.C95*c.285C>ASubstitution - Nonsense
TSSC1ENSG00000032389ENST00000382125p.H62Hc.186T>CSubstitution - coding silent
BIRC6ENSG00000115760ENST00000421745p.?c.4238+2T>CUnknown
BIRC6ENSG00000115760ENST00000421745p.N1748Hc.5242A>CSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.N1748Hc.5242A>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T4228Nc.12683C>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S3445Gc.10333A>GSubstitution - Missense
ENST00000405167p.D3421Ec.10263C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H3453Qc.10359C>GSubstitution - Missense
ENST00000405167p.S3445Nc.10334G>ASubstitution - Missense
ENST00000405167p.T1566Sc.4696A>TSubstitution - Missense
ENST00000405167p.T2063Tc.6189G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.P2258Lc.6773C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.V1017Ac.3050T>CSubstitution - Missense
KIAA0226ENSG00000145016ENST00000296343p.H98Rc.293A>GSubstitution - Missense
KIAA0226ENSG00000145016ENST00000273582p.H38Rc.113A>GSubstitution - Missense
OR5K3ENSG00000206536ENST00000383695p.S137Pc.409T>CSubstitution - Missense
CRYBG3ENSG00000080200ENST00000389622p.?c.12+8T>CUnknown
AZI2ENSG00000163512ENST00000420543p.N157Dc.469A>GSubstitution - Missense
TRMT10AENSG00000145331ENST00000394876p.W54Rc.160T>CSubstitution - Missense
CRELD1ENSG00000163703ENST00000326434p.S222Sc.666A>GSubstitution - coding silent
CRELD1ENSG00000163703ENST00000383811p.S222Sc.666A>GSubstitution - coding silent
OR5K2ENSG00000231861ENST00000427338p.Y290*c.870T>GSubstitution - Nonsense
TADA3ENSG00000171148ENST00000301964p.R349Wc.1045C>TSubstitution - Missense
ZNF518BENSG00000178163ENST00000326756p.S836Pc.2506T>CSubstitution - Missense
ENST00000344132p.Y55Hc.163T>CSubstitution - Missense
COL25A1ENSG00000188517ENST00000399126p.F174Vc.520T>GSubstitution - Missense
LEF1ENSG00000138795ENST00000379951p.P274Lc.821C>TSubstitution - Missense
HELQENSG00000163312ENST00000295488p.N446Sc.1337A>GSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.L1226fs*31c.3674delTDeletion - Frameshift
ARHGAP24ENSG00000138639ENST00000264343p.S634fs*6c.1894delTDeletion - Frameshift
ENST00000318252p.T633Ac.1897A>GSubstitution - Missense
GPR124ENSG00000020181ENST00000412232p.D462Gc.1385A>GSubstitution - Missense
ADAM32ENSG00000197140ENST00000379907p.N85Nc.255T>CSubstitution - coding silent
FGFR1ENSG00000077782ENST00000335922p.?c.913-3T>AUnknown
FGFR1ENSG00000077782ENST00000447712p.?c.937-3T>AUnknown
RAB11FIP1ENSG00000156675ENST00000330843p.A548Ac.1644G>ASubstitution - coding silent
NM_006904p.Y4039Cc.12116A>GSubstitution - Missense
KAT6AENSG00000083168ENST00000265713p.T875Pc.2623A>CSubstitution - Missense
XKENSG00000047597ENST00000378616p.P264Pc.792T>CSubstitution - coding silent
XM_098980.6p.K884Ec.2650A>GSubstitution - Missense
USP11ENSG00000102226ENST00000218348p.?c.1972+6G>AUnknown
KDM6AENSG00000147050ENST00000377967p.R1111Cc.3331C>TSubstitution - Missense
DDX3XENSG00000215301ENST00000399959p.F357Vc.1069T>GSubstitution - Missense
RIBC1ENSG00000158423ENST00000457095p.Y126Cc.377A>GSubstitution - Missense
NLRP11ENSG00000179873ENST00000443188p.K27Rc.80A>GSubstitution - Missense
PEG3ENSG00000198300ENST00000423103p.R393Cc.1177C>TSubstitution - Missense
ZNF667ENSG00000198046ENST00000292069p.H601Rc.1802A>GSubstitution - Missense
ZNF667ENSG00000198046ENST00000342634p.H729Rc.2186A>GSubstitution - Missense
ZNF776ENSG00000152443ENST00000317178p.S160Ac.478T>GSubstitution - Missense
ZNF544ENSG00000198131ENST00000269829p.K534Tc.1601A>CSubstitution - Missense
ENSG00000176593ENST00000313957p.A311Vc.932C>TSubstitution - Missense
ABCA9ENSG00000154258ENST00000340001p.K1296Rc.3887A>GSubstitution - Missense
PSD3ENSG00000156011ENST00000327040p.T701Pc.2101A>CSubstitution - Missense
SPAG11BENSG00000164871ENST00000398462p.F94fs*>40c.281delTDeletion - Frameshift
MBD1ENSG00000141644ENST00000457839p.?c.867+8C>TUnknown
CCDC11ENSG00000172361ENST00000398545p.D320Ac.959A>CSubstitution - Missense
CETN1ENSG00000177143ENST00000327228p.I146Vc.436A>GSubstitution - Missense
NEDD4LENSG00000049759ENST00000382850p.L744Rc.2231T>GSubstitution - Missense
ALPK2ENSG00000198796ENST00000361673p.I2011Tc.6032T>CSubstitution - Missense
WDR7ENSG00000091157ENST00000254442p.R1014Qc.3041G>ASubstitution - Missense
MYH10ENSG00000133026ENST00000269243p.V1541Mc.4621G>ASubstitution - Missense
ANKRD62ENSG00000181626ENST00000314074p.K466fs*5c.1390delADeletion - Frameshift
MPPE1ENSG00000154889ENST00000309976p.?c.867+3T>CUnknown
ENST00000404449p.S734Pc.2200T>CSubstitution - Missense
ESCO1ENSG00000141446ENST00000269214p.P239Pc.717T>CSubstitution - coding silent
EPS8L1ENSG00000131037ENST00000201647p.A705Tc.2113G>ASubstitution - Missense
BRSK1ENSG00000160469ENST00000309383p.D680Gc.2039A>GSubstitution - Missense
BRSK1ENSG00000160469ENST00000309383p.D680Gc.2039A>GSubstitution - Missense
PCNTENSG00000160299ENST00000359568p.N3286fs*50c.9850_9851insCInsertion - Frameshift
SUN5ENSG00000167098ENST00000356173p.?c.898-2A>GUnknown
CLTCL1ENSG00000070371ENST00000263200p.S1080Pc.3238T>CSubstitution - Missense
ENST00000252134p.S78Pc.232T>CSubstitution - Missense
RANBP1ENSG00000099901ENST00000331821p.S171Sc.513A>GSubstitution - coding silent
ARVCFENSG00000099889ENST00000263207p.A300Ac.900C>ASubstitution - coding silent
ARVCFENSG00000099889ENST00000263207p.V136Vc.408A>GSubstitution - coding silent
PDE11AENSG00000128655ENST00000358450p.?c.1495-7A>GUnknown
HOXD3ENSG00000128652ENST00000249440p.G421Gc.1263A>GSubstitution - coding silent
HOXD9ENSG00000128709ENST00000249499p.D23Gc.68A>GSubstitution - Missense
HOXD11ENSG00000128713ENST00000249504p.Y15Cc.44A>GSubstitution - Missense
ENST00000356127p.L30945Vc.92833T>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.L24642Vc.73924T>GSubstitution - Missense
NM_003319p.L24450Vc.73348T>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.V20873Ac.62618T>CSubstitution - Missense
ENST00000356127p.V27243Ac.81728T>CSubstitution - Missense
NM_003319p.P13885Sc.41653C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.P14010Sc.42028C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.P14077Sc.42229C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.I16278Tc.48833T>CSubstitution - Missense
ENST00000356127p.I16276Tc.48827T>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.I9973Tc.29918T>CSubstitution - Missense
NM_003319p.I9781Tc.29342T>CSubstitution - Missense
BOLLENSG00000152430ENST00000392296p.S54Pc.160T>CSubstitution - Missense
SF3B1ENSG00000115524ENST00000335508p.D66Dc.198T>CSubstitution - coding silent
PGAP1ENSG00000197121ENST00000354764p.P851Pc.2553A>GSubstitution - coding silent
ALS2CR11ENSG00000155754ENST00000286195p.M41Vc.121A>GSubstitution - Missense
CASP8ENSG00000064012ENST00000358485p.N466Nc.1398T>CSubstitution - coding silent
CASP8ENSG00000064012ENST00000264275p.N424Nc.1272T>CSubstitution - coding silent
CASP8ENSG00000064012ENST00000264275p.N424Nc.1272T>CSubstitution - coding silent
CASP8ENSG00000064012ENST00000264275p.?c.853+7T>CUnknown
CFLARENSG00000003402ENST00000309955p.L431Pc.1292T>CSubstitution - Missense
GPR35ENSG00000178623ENST00000319838p.A174Ac.522G>ASubstitution - coding silent
EFR3BENSG00000084710ENST00000264719p.K219Ec.655A>GSubstitution - Missense
ACTR1BENSG00000115073ENST00000289228p.L99Pc.296T>CSubstitution - Missense
EIF5BENSG00000158417ENST00000289371p.K98fs*83c.286delADeletion - Frameshift
INPP4AENSG00000040933ENST00000409540p.L873Pc.2618T>CSubstitution - Missense
INPP4AENSG00000040933ENST00000074304p.L912Pc.2735T>CSubstitution - Missense
ABI3BPENSG00000154175ENST00000471714p.?c.2336-2A>CUnknown
PRSS8ENSG00000052344ENST00000317508p.R142Sc.426A>CSubstitution - Missense
OR1F1ENSG00000168124ENST00000304646p.V150Gc.449T>GSubstitution - Missense
BANPENSG00000172530ENST00000355163p.V204Ac.611T>CSubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.P2187Pc.6561G>ASubstitution - coding silent
CDH15ENSG00000129910ENST00000289746p.L61Lc.183C>TSubstitution - coding silent
ZNF432ENSG00000256087ENST00000221315p.F214Vc.640T>GSubstitution - Missense
ZNF665ENSG00000197497ENST00000396424p.A646Vc.1937C>TSubstitution - Missense
ZNF665ENSG00000197497ENST00000396424p.A581Vc.1742C>TSubstitution - Missense
ZNF160ENSG00000170949ENST00000429604p.A657fs*8c.1968delADeletion - Frameshift
ROBO1ENSG00000169855ENST00000495273p.E1063*c.3187G>TSubstitution - Nonsense
ROBO1ENSG00000169855ENST00000464233p.E1108*c.3322G>TSubstitution - Nonsense
ROBO1ENSG00000169855ENST00000464233p.E1108*c.3322G>TSubstitution - Nonsense
UGT2B28ENSG00000135226ENST00000335568p.V335Ac.1004T>CSubstitution - Missense
UGT2B7ENSG00000171234ENST00000305231p.P332Pc.996A>TSubstitution - coding silent
ENST00000265403_v61p.?c.867+2T>CUnknown
UGT2B10ENSG00000109181ENST00000265403p.?c.867+2T>CUnknown
NM_032217.3p.D841fs*33c.2519_2520insTGInsertion - Frameshift
NM_032217.3p.L452Lc.1354T>CSubstitution - coding silent
NM_032217.3p.A1641Ac.4923T>GSubstitution - coding silent
ADAMTS3ENSG00000156140ENST00000286657p.R932Cc.2794C>TSubstitution - Missense
OGFOD1ENSG00000087263ENST00000566157p.E285Gc.854A>GSubstitution - Missense
BBS2ENSG00000125124ENST00000245157p.H431Rc.1292A>GSubstitution - Missense
CES5AENSG00000159398ENST00000521992p.P585Lc.1754C>TSubstitution - Missense
CES5AENSG00000159398ENST00000319165p.P506Lc.1517C>TSubstitution - Missense
CES5AENSG00000159398ENST00000521992p.R429Qc.1286G>ASubstitution - Missense
CES5AENSG00000159398ENST00000319165p.R400Qc.1199G>ASubstitution - Missense
WIPF2ENSG00000171475ENST00000323571p.E352Ec.1056A>GSubstitution - coding silent
FBXL20ENSG00000108306ENST00000583610p.H410Rc.1229A>GSubstitution - Missense
FBXL20ENSG00000108306ENST00000583610p.L404Vc.1210T>GSubstitution - Missense
KRTAP1-5ENSG00000221852ENST00000361883p.S102Gc.304A>GSubstitution - Missense
KRT37ENSG00000108417ENST00000225550p.D353Gc.1058A>GSubstitution - Missense
ZZEF1ENSG00000074755ENST00000381638p.F2279Lc.6835T>CSubstitution - Missense
CCT8ENSG00000156261ENST00000286788p.A12Tc.34G>ASubstitution - Missense
RWDD2BENSG00000156253ENST00000493196p.?c.362+2T>CUnknown
ADAMTS1ENSG00000154734ENST00000284984p.T620Pc.1858A>CSubstitution - Missense
APPENSG00000142192ENST00000346798p.E556Gc.1667A>GSubstitution - Missense
TTC3ENSG00000182670ENST00000354749p.V48Ac.143T>CSubstitution - Missense
TTC3ENSG00000182670ENST00000354749p.V721Ac.2162T>CSubstitution - Missense
ZNF721ENSG00000182903ENST00000511833p.A85Gc.254C>GSubstitution - Missense
MST1ENSG00000173531ENST00000449682p.V316Ac.947T>CSubstitution - Missense
BSNENSG00000164061ENST00000296452p.T1525Tc.4575T>CSubstitution - coding silent
CCDC36ENSG00000173421ENST00000438782p.S16Sc.48A>GSubstitution - coding silent
USP4ENSG00000114316ENST00000265560p.V96Ac.287T>CSubstitution - Missense
LAMB2ENSG00000172037ENST00000305544p.G971Gc.2913G>TSubstitution - coding silent
USP19ENSG00000172046ENST00000434032p.R830Rc.2490T>CSubstitution - coding silent
XM_496642.1p.R817Rc.2451T>CSubstitution - coding silent
BHLHE40ENSG00000134107ENST00000256495p.G276Gc.828C>TSubstitution - coding silent
PCBP4ENSG00000090097ENST00000461554p.?c.106-10C>TUnknown
RNASET2ENSG00000026297ENST00000508775p.?c.568-8A>GUnknown
NISCHENSG00000010322ENST00000345716p.Y1423Hc.4267T>CSubstitution - Missense
NM_214462.1p.D252Nc.754G>ASubstitution - Missense
NM_214462.1p.G137Gc.411G>CSubstitution - coding silent
MLLT4ENSG00000130396ENST00000366806p.V1808Ac.5423T>CSubstitution - Missense
KIAA0319ENSG00000137261ENST00000378214p.T51Ac.151A>GSubstitution - Missense
BTN3A1ENSG00000026950ENST00000289361p.P56Pc.168G>ASubstitution - coding silent
BTN3A2ENSG00000186470ENST00000396948p.P56Pc.168G>ASubstitution - coding silent
HIST1H3EENSG00000196966ENST00000360408p.R50Rc.150C>TSubstitution - coding silent
SLC17A2ENSG00000112337ENST00000360488p.I94Sc.281T>GSubstitution - Missense
WDR91ENSG00000105875ENST00000354475p.S306Ac.916T>GSubstitution - Missense
PARP12ENSG00000059378ENST00000263549p.P637Pc.1911G>CSubstitution - coding silent
TBXAS1ENSG00000059377ENST00000416849p.L277Sc.830T>CSubstitution - Missense
LRRD1ENSG00000240720ENST00000458448p.N580Ic.1739A>TSubstitution - Missense
KRIT1ENSG00000001631ENST00000394507p.T693Ac.2077A>GSubstitution - Missense
ANKIB1ENSG00000001629ENST00000265742p.C378fs*15c.1127delTDeletion - Frameshift
FZD1ENSG00000157240ENST00000287934p.F373Lc.1117T>CSubstitution - Missense
ADAP1ENSG00000105963ENST00000265846p.E296Gc.887A>GSubstitution - Missense
CYP3A7ENSG00000160870ENST00000336374p.V369Ac.1106T>CSubstitution - Missense
SMURF1ENSG00000198742ENST00000361125p.T647Tc.1941G>ASubstitution - coding silent
NPTX2ENSG00000106236ENST00000265634p.E283Vc.848A>TSubstitution - Missense
PLECENSG00000178209ENST00000322810p.H192Rc.575A>GSubstitution - Missense
PLECENSG00000178209ENST00000436759p.H82Rc.245A>GSubstitution - Missense
ENST00000357934p.E409Vc.1226A>TSubstitution - Missense
PSD3ENSG00000156011ENST00000286485p.T167Pc.499A>CSubstitution - Missense
WWP1ENSG00000123124ENST00000517970p.R555Rc.1665T>CSubstitution - coding silent
INTS8ENSG00000164941ENST00000523731p.E420Gc.1259A>GSubstitution - Missense
PDP1ENSG00000164951ENST00000396200p.R95Rc.285A>GSubstitution - coding silent
PDP1ENSG00000164951ENST00000297598p.R70Rc.210A>GSubstitution - coding silent
RUNX1T1ENSG00000079102ENST00000436581p.T491Pc.1471A>CSubstitution - Missense
RUNX1T1ENSG00000079102ENST00000265814p.T480Pc.1438A>CSubstitution - Missense
RUNX1T1ENSG00000079102ENST00000360348p.T443Pc.1327A>CSubstitution - Missense
ENST00000375206p.Q484Qc.1452A>GSubstitution - coding silent
SCN4AENSG00000007314ENST00000435607p.Y386Hc.1156T>CSubstitution - Missense
NOL11ENSG00000130935ENST00000253247p.G21Gc.63A>GSubstitution - coding silent
BPTFENSG00000171634ENST00000306378p.V211Vc.633A>GSubstitution - coding silent
BPTFENSG00000171634ENST00000335221p.V211Vc.633A>GSubstitution - coding silent
GNA13ENSG00000120063ENST00000439174p.S22Sc.66T>CSubstitution - coding silent
MAP2K3ENSG00000034152ENST00000316920p.R297Rc.891T>CSubstitution - coding silent
MAP2K3ENSG00000034152ENST00000361818p.R264Rc.792T>CSubstitution - coding silent
ULK2ENSG00000083290ENST00000361658p.V370Ac.1109T>CSubstitution - Missense
ULK2ENSG00000083290ENST00000361658p.V370Ac.1109T>CSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.A586Vc.1757C>TSubstitution - Missense
ENPP7ENSG00000182156ENST00000328313p.D298Ac.893A>CSubstitution - Missense
CBX2ENSG00000173894ENST00000269399p.S125Ac.373T>GSubstitution - Missense
CPDENSG00000108582ENST00000225719p.L574Rc.1721T>GSubstitution - Missense
EFCAB5ENSG00000176927ENST00000394835p.?c.4224+2T>CUnknown
BLMHENSG00000108578ENST00000261714p.?c.322-2A>GUnknown
TAOK1ENSG00000160551ENST00000261716p.H85Hc.255T>CSubstitution - coding silent
NOTUMENSG00000185269ENST00000409678p.W316Rc.946T>CSubstitution - Missense
P4HBENSG00000185624ENST00000331483p.Q233Rc.698A>GSubstitution - Missense
NPLOC4ENSG00000182446ENST00000331134p.I204Vc.610A>GSubstitution - Missense
NPC1ENSG00000141458ENST00000269228p.R389Hc.1166G>ASubstitution - Missense
NDC80ENSG00000080986ENST00000261597p.K519Rc.1556A>GSubstitution - Missense
DSC2ENSG00000134755ENST00000251081p.R174Rc.520A>CSubstitution - coding silent
DSC3ENSG00000134762ENST00000360428p.P151Hc.452C>ASubstitution - Missense
DSC3ENSG00000134762ENST00000434452p.P151Hc.452C>ASubstitution - Missense
TGIF1ENSG00000177426ENST00000330513p.S320Sc.960G>TSubstitution - coding silent
HMHA1ENSG00000180448ENST00000313093p.F559Fc.1677T>CSubstitution - coding silent
SYT4ENSG00000132872ENST00000255224p.T231Ac.691A>GSubstitution - Missense
DLGAP1ENSG00000170579ENST00000315677p.V739Ac.2216T>CSubstitution - Missense
DLGAP1ENSG00000170579ENST00000539435p.V447Ac.1340T>CSubstitution - Missense
TSPAN16ENSG00000130167ENST00000316737p.C188Rc.562T>CSubstitution - Missense
LDLRENSG00000130164ENST00000558518p.N657Sc.1970A>GSubstitution - Missense
ZNF136ENSG00000196646ENST00000343979p.K45Ec.133A>GSubstitution - Missense
CNN1ENSG00000130176ENST00000252456p.A285Tc.853G>ASubstitution - Missense
LYL1ENSG00000104903ENST00000264824p.T273Pc.817A>CSubstitution - Missense
BACE2ENSG00000182240ENST00000330333p.E413Kc.1237G>ASubstitution - Missense
PSMG1ENSG00000183527ENST00000331573p.?c.655+5T>CUnknown
RRP1BENSG00000160208ENST00000340648p.G724Wc.2170G>TSubstitution - Missense
CBSENSG00000160200ENST00000398158p.S349Sc.1047T>CSubstitution - coding silent
KRTAP12-1ENSG00000187175ENST00000391617p.C76Rc.226T>CSubstitution - Missense
KRTAP10-5ENSG00000241123ENST00000400372p.C168fs*>104c.501delCDeletion - Frameshift
TRPM2ENSG00000142185ENST00000397928p.L871Rc.2612T>GSubstitution - Missense
TMEM150AENSG00000168890ENST00000334462p.V128Ac.383T>CSubstitution - Missense
C2orf68ENSG00000168887ENST00000409734p.*128*c.383G>ASubstitution - coding silent
COL6A2ENSG00000142173ENST00000300527p.K151Rc.452A>GSubstitution - Missense
COL6A2ENSG00000142173ENST00000357838p.K151Rc.452A>GSubstitution - Missense
ENST00000380014p.G54Gc.162C>TSubstitution - coding silent
COL18A1ENSG00000182871ENST00000355480p.N129Dc.385A>GSubstitution - Missense
EIF2AK3ENSG00000172071ENST00000303236p.A422Vc.1265C>TSubstitution - Missense
KANSL3ENSG00000114982ENST00000431828p.D629Gc.1886A>GSubstitution - Missense
STARD7ENSG00000084090ENST00000337288p.A74Pc.220G>CSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.A1252Ac.3756C>TSubstitution - coding silent
ROBO2ENSG00000185008ENST00000461745p.Q616Qc.1848A>GSubstitution - coding silent
ROBO2ENSG00000185008ENST00000487694p.Q632Qc.1896A>GSubstitution - coding silent
FRG2CENSG00000172969ENST00000308062p.L214Fc.640C>TSubstitution - Missense
POU1F1ENSG00000064835ENST00000350375p.V257Ac.770T>CSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.A1252Ac.3756C>TSubstitution - coding silent
POLR2AENSG00000181222ENST00000322644p.K1219Rc.3656A>GSubstitution - Missense
EVPLENSG00000167880ENST00000301607p.Y1747Cc.5240A>GSubstitution - Missense
TNRC6CENSG00000078687ENST00000301624p.D733fs*10c.2192delGDeletion - Frameshift
ZNF729ENSG00000196350ENST00000357491p.K177Tc.530A>CSubstitution - Missense
POP4ENSG00000105171ENST00000221770p.?c.526+3A>GUnknown
SGTAENSG00000104969ENST00000221566p.Q294Pc.881A>CSubstitution - Missense
TRPM4ENSG00000130529ENST00000252826p.S120Sc.360A>GSubstitution - coding silent
KIAA0355ENSG00000166398ENST00000299505p.N609Sc.1826A>GSubstitution - Missense
ENST00000301415p.?c.590+1G>AUnknown
MYH14ENSG00000105357ENST00000262269p.Q511Rc.1532A>GSubstitution - Missense
ENST00000301415p.Q503Rc.1508A>GSubstitution - Missense
ZNF473ENSG00000142528ENST00000391821p.C567Rc.1699T>CSubstitution - Missense
SIGLEC7ENSG00000168995ENST00000317643p.I232Vc.694A>GSubstitution - Missense
KLK12ENSG00000186474ENST00000250351p.G202fs*>53c.605delGDeletion - Frameshift
KLK7ENSG00000169035ENST00000304045p.T77Ac.229A>GSubstitution - Missense
ITPAENSG00000125877ENST00000380113p.Q58Rc.173A>GSubstitution - Missense
GSSENSG00000100983ENST00000216951p.?c.689+9A>CUnknown
PIGUENSG00000101464ENST00000217446p.D252Gc.755A>GSubstitution - Missense
SIGLEC1ENSG00000088827ENST00000202578p.R929Rc.2787T>CSubstitution - coding silent
ATP9AENSG00000054793ENST00000338821p.S140Gc.418A>GSubstitution - Missense
SALL4ENSG00000101115ENST00000217086p.Q123Qc.369G>ASubstitution - coding silent
ADNPENSG00000101126ENST00000349014p.Y69Cc.206A>GSubstitution - Missense
PTPN1ENSG00000196396ENST00000371621p.K131Kc.393A>GSubstitution - coding silent
SLC9A8ENSG00000197818ENST00000417961p.T510Tc.1530T>CSubstitution - coding silent
SLC23A2ENSG00000089057ENST00000338244p.V332Ec.995T>ASubstitution - Missense
ZNFX1ENSG00000124201ENST00000396105p.A1658Ac.4974A>GSubstitution - coding silent
ZNFX1ENSG00000124201ENST00000371752p.A1658Ac.4974A>GSubstitution - coding silent
CSTF1ENSG00000101138ENST00000217109p.S315Pc.943T>CSubstitution - Missense
ZFP64ENSG00000020256ENST00000216923p.L222Pc.665T>CSubstitution - Missense
ZFP64ENSG00000020256ENST00000216923p.L222Pc.665T>CSubstitution - Missense
ZFP64ENSG00000020256ENST00000361387p.L222Pc.665T>CSubstitution - Missense
CDH26ENSG00000124215ENST00000244047p.I144fs*6c.426delADeletion - Frameshift
GNASENSG00000087460ENST00000371100p.P70Pc.210C>TSubstitution - coding silent
ENST00000334187_v71p.L116fs*20c.347delTDeletion - Frameshift
PTPRZ1ENSG00000106278ENST00000393386p.G199Gc.597A>GSubstitution - coding silent
TAF4ENSG00000130699ENST00000252996p.L623Rc.1868T>GSubstitution - Missense
ARL4AENSG00000122644ENST00000396662p.L5Pc.14T>CSubstitution - Missense
CADPS2ENSG00000081803ENST00000449022p.Q1248Hc.3744G>TSubstitution - Missense
FLNCENSG00000128591ENST00000325888p.S379Sc.1137A>GSubstitution - coding silent
PLXNA4ENSG00000221866ENST00000321063p.S1002Sc.3006C>ASubstitution - coding silent
PLXNA4ENSG00000221866ENST00000321063p.I1413Tc.4238T>CSubstitution - Missense
ENST00000319250p.S160Sc.480A>GSubstitution - coding silent
ANKRD18BENSG00000230453ENST00000290943p.I132Ic.396C>TSubstitution - coding silent
RFX3ENSG00000080298ENST00000449234p.P123Sc.367C>TSubstitution - Missense
RUSC2ENSG00000198853ENST00000361226p.S1299Rc.3895A>CSubstitution - Missense
ENST00000291050p.N123Tc.368A>CSubstitution - Missense
ZCCHC7ENSG00000147905ENST00000336755p.R260Qc.779G>ASubstitution - Missense
POLR1EENSG00000137054ENST00000377798p.E162Ec.486A>GSubstitution - coding silent
TLN1ENSG00000137076ENST00000314888p.P1628Lc.4883C>TSubstitution - Missense
ENST00000399933_v61p.F1252fs*18c.3755delTDeletion - Frameshift
KIAA2026ENSG00000183354ENST00000399933p.F427fs*18c.1280delTDeletion - Frameshift
INSL4ENSG00000120211ENST00000239316p.Q101Rc.302A>GSubstitution - Missense
GLIS3ENSG00000107249ENST00000324333p.Q662Hc.1986A>CSubstitution - Missense
TRPM3ENSG00000083067ENST00000377105p.G693Gc.2079A>GSubstitution - coding silent
TRPM3ENSG00000083067ENST00000423814p.G838Gc.2514A>GSubstitution - coding silent
TMEM252ENSG00000181778ENST00000377311p.*171Gc.511T>GNonstop extension
FLNBENSG00000136068ENST00000490882p.V2606Ic.7816G>ASubstitution - Missense
CCDC66ENSG00000180376ENST00000394672p.V96Vc.288C>TSubstitution - coding silent
ADAM7ENSG00000069206ENST00000175238p.L74Rc.221T>GSubstitution - Missense
ENTPD4ENSG00000197217ENST00000358689p.T266Ac.796A>GSubstitution - Missense
RHOBTB2ENSG00000008853ENST00000251822p.Y378Hc.1132T>CSubstitution - Missense
RHOBTB2ENSG00000008853ENST00000251822p.F107Lc.319T>CSubstitution - Missense
PPP3CCENSG00000120910ENST00000240139p.P489Tc.1465C>ASubstitution - Missense
ADRA1AENSG00000120907ENST00000380582p.P293Sc.877C>TSubstitution - Missense
ENST00000299644p.F345Vc.1033T>GSubstitution - Missense
TAF1CENSG00000103168ENST00000378541p.S758Gc.2272A>GSubstitution - Missense
ENST00000248272p.E498Gc.1493A>GSubstitution - Missense
ENST00000248272p.V523Vc.1569A>GSubstitution - coding silent
FMNL1ENSG00000184922ENST00000331495p.M46Tc.137T>CSubstitution - Missense
TBKBP1ENSG00000198933ENST00000361722p.?c.811-2A>GUnknown
TBKBP1ENSG00000198933ENST00000361722p.?c.883-2A>GUnknown
ENST00000262017p.S173Sc.519T>CSubstitution - coding silent
OR7G3ENSG00000170920ENST00000305444p.E173Gc.518A>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.E3132Dc.9396A>CSubstitution - Missense
RAD21L1ENSG00000244588ENST00000402452p.I41Vc.121A>GSubstitution - Missense
RAD21L1ENSG00000244588ENST00000246108p.I41Vc.121A>GSubstitution - Missense
ZNF699ENSG00000196110ENST00000308650p.K557Nc.1671A>CSubstitution - Missense
SIRPAENSG00000198053ENST00000356025p.C121Gc.361T>GSubstitution - Missense
SIRPAENSG00000198053ENST00000400068p.C121Gc.361T>GSubstitution - Missense
DZANK1ENSG00000089091ENST00000262547p.G614Rc.1840G>ASubstitution - Missense
DZANK1ENSG00000089091ENST00000377630p.G447Rc.1339G>ASubstitution - Missense
RRBP1ENSG00000125844ENST00000377813p.G967Sc.2899G>ASubstitution - Missense
CD93ENSG00000125810ENST00000246006p.R288Rc.864A>CSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.S3892Sc.11676G>ASubstitution - coding silent
ENST00000356127p.S3892Sc.11676G>ASubstitution - coding silent
CWC22ENSG00000163510ENST00000410053p.I536Vc.1606A>GSubstitution - Missense
ITGAVENSG00000138448ENST00000261023p.?c.1506-7T>CUnknown
MYO1BENSG00000128641ENST00000392318p.F918Sc.2753T>CSubstitution - Missense
MYO1BENSG00000128641ENST00000339514p.F860Sc.2579T>CSubstitution - Missense
SLC40A1ENSG00000138449ENST00000261024p.K258Nc.774A>CSubstitution - Missense
SLC40A1ENSG00000138449ENST00000261024p.A234Dc.701C>ASubstitution - Missense
CPS1ENSG00000021826ENST00000233072p.?c.621+9T>GUnknown
CPS1ENSG00000021826ENST00000430249p.L884fs*8c.2647delTDeletion - Frameshift
ABCA12ENSG00000144452ENST00000272895p.T935Pc.2803A>CSubstitution - Missense
ERBB4ENSG00000178568ENST00000342788p.T639Ac.1915A>GSubstitution - Missense
SMARCAL1ENSG00000138375ENST00000357276p.Y342Cc.1025A>GSubstitution - Missense
ADHFE1ENSG00000147576ENST00000396623p.?c.97+2T>CUnknown
AGPAT5ENSG00000155189ENST00000285518p.T205Tc.615A>CSubstitution - coding silent
GGHENSG00000137563ENST00000260118p.G125Gc.375A>GSubstitution - coding silent
MSL3ENSG00000005302ENST00000337339p.V29Ac.86T>CSubstitution - Missense
HTR2CENSG00000147246ENST00000371951p.F320Lc.958T>CSubstitution - Missense
ZNF280CENSG00000056277ENST00000370978p.?c.771+2T>CUnknown
ENST00000361576p.S517Nc.1550G>ASubstitution - Missense
GPR108ENSG00000125734ENST00000264080p.K155Rc.464A>GSubstitution - Missense
MYO1FENSG00000142347ENST00000338257p.?c.2621+2T>CUnknown
MUC16ENSG00000181143ENST00000397910p.T8678Ac.26032A>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T8678Ac.26032A>GSubstitution - Missense
ENST00000331986p.T4311Ac.12931A>GSubstitution - Missense
ERCC6L2ENSG00000182150ENST00000407474p.N81Kc.243T>GSubstitution - Missense
FBP1ENSG00000165140ENST00000375326p.V76Ac.227T>CSubstitution - Missense
ARMCX1ENSG00000126947ENST00000372829p.G72Gc.216T>CSubstitution - coding silent
ARMCX3ENSG00000102401ENST00000341189p.I144Ic.432T>CSubstitution - coding silent
CSTF2ENSG00000101811ENST00000372972p.A492Vc.1475C>TSubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.I3476Nc.10427T>ASubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.T2512Tc.7536G>ASubstitution - coding silent
RAI1ENSG00000108557ENST00000353383p.L998Lc.2994A>GSubstitution - coding silent
TNFRSF13BENSG00000240505ENST00000261652p.V29Gc.86T>GSubstitution - Missense
CENPVENSG00000166582ENST00000299736p.H236fs*5c.700_701insCInsertion - Frameshift
SHMT1ENSG00000176974ENST00000316694p.?c.931+9T>CUnknown
SREBF1ENSG00000072310ENST00000355815p.N359Nc.1077C>TSubstitution - coding silent
RPA1ENSG00000132383ENST00000254719p.T35Ac.103A>GSubstitution - Missense
ACOX1ENSG00000161533ENST00000301608p.M39Tc.116T>CSubstitution - Missense
ZBTB4ENSG00000174282ENST00000380599p.V915Gc.2744T>GSubstitution - Missense
ZBTB4ENSG00000174282ENST00000311403p.V915Gc.2744T>GSubstitution - Missense
ENST00000226258p.H406Hc.1218T>CSubstitution - coding silent
EIF4A1ENSG00000161960ENST00000293831p.V209Ac.626T>CSubstitution - Missense
PRPSAP1ENSG00000161542ENST00000324684p.?c.136+2T>CUnknown
SPHK1ENSG00000176170ENST00000323374p.L247Pc.740T>CSubstitution - Missense
NOL9ENSG00000162408ENST00000377705p.M535Ic.1605G>ASubstitution - Missense
PLEKHG5ENSG00000171680ENST00000377748p.L718Lc.2154A>TSubstitution - coding silent
FAM73AENSG00000180488ENST00000370791p.K307Nc.921G>TSubstitution - Missense
ST6GALNAC3ENSG00000184005ENST00000328299p.Y253Sc.758A>CSubstitution - Missense
ACADMENSG00000117054ENST00000370841p.K217Ec.649A>GSubstitution - Missense
C1orf173ENSG00000178965ENST00000326665p.E1413Ac.4238A>CSubstitution - Missense
LPHN2ENSG00000117114ENST00000359929p.A1303Tc.3907G>ASubstitution - Missense
LPHN2ENSG00000117114ENST00000370725p.A1374Tc.4120G>ASubstitution - Missense
CGRRF1ENSG00000100532ENST00000216420p.T85Ac.253A>GSubstitution - Missense
JKAMPENSG00000050130ENST00000356057p.F301Ic.901T>ASubstitution - Missense
ARID4AENSG00000032219ENST00000355431p.K1086Mc.3257A>TSubstitution - Missense
AP5M1ENSG00000053770ENST00000261558p.Q3Pc.8A>CSubstitution - Missense
ESR2ENSG00000140009ENST00000554572p.M453Tc.1358T>CSubstitution - Missense
PPM1AENSG00000100614ENST00000325642p.?c.1171+2T>CUnknown
DIO2ENSG00000211448ENST00000438257p.F19fs*23c.56delTDeletion - Frameshift
TRIP11ENSG00000100815ENST00000267622p.D1898Dc.5694T>CSubstitution - coding silent
CCDC88CENSG00000015133ENST00000389857p.A1722Vc.5165C>TSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.A1722Vc.5165C>TSubstitution - Missense
CCDC88CENSG00000015133ENST00000331194p.A246Vc.737C>TSubstitution - Missense
FOXN3ENSG00000053254ENST00000345097p.S97fs*6c.280_281insCInsertion - Frameshift
ZC3H14ENSG00000100722ENST00000318308p.L23Lc.69A>GSubstitution - coding silent
IFI27L2ENSG00000119632ENST00000238609p.G11Gc.33A>CSubstitution - coding silent
RASL12ENSG00000103710ENST00000220062p.Y112Cc.335A>GSubstitution - Missense
RASL12ENSG00000103710ENST00000434605p.Y101Cc.302A>GSubstitution - Missense
ZNF609ENSG00000180357ENST00000326648p.S1340Sc.4020C>TSubstitution - coding silent
ZNF609ENSG00000180357ENST00000326648p.R366Lc.1097G>TSubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.V899Ac.2696T>CSubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.V899Ac.2696T>CSubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.G704Cc.2110G>TSubstitution - Missense
DIS3LENSG00000166938ENST00000319212p.D598Gc.1793A>GSubstitution - Missense
DENND4AENSG00000174485ENST00000443035p.T678Ic.2033C>TSubstitution - Missense
DENND4AENSG00000174485ENST00000431932p.T678Ic.2033C>TSubstitution - Missense
GBP5ENSG00000154451ENST00000370459p.E484Gc.1451A>GSubstitution - Missense
LRRC49ENSG00000137821ENST00000260382p.G151Gc.453G>ASubstitution - coding silent
ARHGAP29ENSG00000137962ENST00000260526p.S510Yc.1529C>ASubstitution - Missense
HFM1ENSG00000162669ENST00000370425p.V428Vc.1284A>GSubstitution - coding silent
F10ENSG00000126218ENST00000375559p.A205Ac.615A>CSubstitution - coding silent
MCF2LENSG00000126217ENST00000375604p.F210Lc.628T>CSubstitution - Missense
MCF2LENSG00000126217ENST00000375608p.F183Lc.547T>CSubstitution - Missense
ATP11AENSG00000068650ENST00000375645p.S363Pc.1087T>CSubstitution - Missense
ATP11AENSG00000068650ENST00000375630p.S363Pc.1087T>CSubstitution - Missense
ATP11AENSG00000068650ENST00000375645p.T175Ac.523A>GSubstitution - Missense
ENST00000375815p.L1090Pc.3269T>CSubstitution - Missense
MPHOSPH8ENSG00000196199ENST00000414242p.S392Sc.1176C>TSubstitution - coding silent
LAMP1ENSG00000185896ENST00000332556p.I386Vc.1156A>GSubstitution - Missense
TNFRSF19ENSG00000127863ENST00000382258p.N380Nc.1140C>TSubstitution - coding silent
ENST00000360220p.R74Rc.222C>TSubstitution - coding silent
IFT88ENSG00000032742ENST00000319980p.?c.2269+6T>CUnknown
PGBD4ENSG00000182405ENST00000397766p.R368Gc.1102A>GSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.E3087Dc.9261G>CSubstitution - Missense
ENST00000414268p.D846Gc.2537A>GSubstitution - Missense
NM_031277.1p.K105Rc.314A>GSubstitution - Missense
PAK6ENSG00000137843ENST00000441369p.H141fs*74c.421_422insCInsertion - Frameshift
C15orf41ENSG00000186073ENST00000437989p.F32Vc.94T>GSubstitution - Missense
PPP1R14DENSG00000166143ENST00000427255p.A160fs*8c.477delCDeletion - Frameshift
PPP1R14DENSG00000166143ENST00000299174p.R121fs*>25c.361delCDeletion - Frameshift
RHOVENSG00000104140ENST00000220507p.F233delFc.698_700delTCTDeletion - In frame
CASC5ENSG00000137812ENST00000346991p.S1652Sc.4956T>GSubstitution - coding silent
CASC5ENSG00000137812ENST00000346991p.S1652Sc.4956T>GSubstitution - coding silent
XM_031689.7p.K2152Kc.6456A>GSubstitution - coding silent
XM_031689.7p.K2446Rc.7337A>GSubstitution - Missense
C5orf42ENSG00000197603ENST00000425232p.?c.81+2T>CUnknown
PLCXD3ENSG00000182836ENST00000377801p.D188Gc.563A>GSubstitution - Missense
MROH2BENSG00000171495ENST00000399564p.T251Pc.751A>CSubstitution - Missense
BAZ1AENSG00000198604ENST00000382422p.L533Lc.1597T>CSubstitution - coding silent
SOS2ENSG00000100485ENST00000216373p.I608Vc.1822A>GSubstitution - Missense
SOS2ENSG00000100485ENST00000216373p.N534Sc.1601A>GSubstitution - Missense
SOS2ENSG00000100485ENST00000216373p.N534Sc.1601A>GSubstitution - Missense
SOS2ENSG00000100485ENST00000216373p.Q373Qc.1119A>GSubstitution - coding silent
SETD3ENSG00000183576ENST00000331768p.M493Rc.1478T>GSubstitution - Missense
GPR137CENSG00000180998ENST00000321662p.W92Cc.276G>CSubstitution - Missense
ITPR2ENSG00000123104ENST00000381340p.?c.6219+9A>CUnknown
ITPR2ENSG00000123104ENST00000381340p.L1859Lc.5575T>CSubstitution - coding silent
CRTC2ENSG00000160741ENST00000368633p.N305Sc.914A>GSubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.Q750Pc.2249A>CSubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.Q638Pc.1913A>CSubstitution - Missense
UBAP2LENSG00000143569ENST00000361546p.S356Rc.1066A>CSubstitution - Missense
YY1AP1ENSG00000163374ENST00000295566p.Q632Ec.1894C>GSubstitution - Missense
ASH1LENSG00000116539ENST00000392403p.Q2410Rc.7229A>GSubstitution - Missense
FDPSENSG00000160752ENST00000368356p.Y265Hc.793T>CSubstitution - Missense
TRIM46ENSG00000163462ENST00000334634p.A381Ac.1143C>TSubstitution - coding silent
CAMSAP2ENSG00000118200ENST00000358823p.?c.3465+4T>CUnknown
RENENSG00000143839ENST00000272190p.V101Ac.302T>CSubstitution - Missense
SOX13ENSG00000143842ENST00000367204p.R482Qc.1445G>ASubstitution - Missense
PM20D1ENSG00000162877ENST00000367136p.K461Nc.1383A>TSubstitution - Missense
LEMD1ENSG00000186007ENST00000367153p.S44Sc.132A>CSubstitution - coding silent
PLA2G2DENSG00000117215ENST00000375105p.C48Cc.144C>TSubstitution - coding silent
TRPM7ENSG00000092439ENST00000313478p.Q585Pc.1754A>CSubstitution - Missense
USP8ENSG00000138592ENST00000307179p.A3Vc.8C>TSubstitution - Missense
USP8ENSG00000138592ENST00000307179p.M456Vc.1366A>GSubstitution - Missense
GALK2ENSG00000156958ENST00000560031p.A352Ac.1056A>CSubstitution - coding silent
GALK2ENSG00000156958ENST00000327171p.A341Ac.1023A>CSubstitution - coding silent
MYO5CENSG00000128833ENST00000261839p.T643Tc.1929G>ASubstitution - coding silent
DMXL2ENSG00000104093ENST00000251076p.A2854Tc.8560G>ASubstitution - Missense
GCOM1ENSG00000137878ENST00000380569p.E372Dc.1116G>TSubstitution - Missense
TRIM66ENSG00000166436ENST00000299550p.T604Pc.1810A>CSubstitution - Missense
EEDENSG00000074266ENST00000263360p.N146Sc.437A>GSubstitution - Missense
EEDENSG00000074266ENST00000263360p.S159Gc.475A>GSubstitution - Missense
CD151ENSG00000177697ENST00000397420p.V14Ac.41T>CSubstitution - Missense
RAB30ENSG00000137502ENST00000533486p.T117Ac.349A>GSubstitution - Missense
PCF11ENSG00000165494ENST00000298281p.H621Hc.1863T>CSubstitution - coding silent
TRIM64BENSG00000189253ENST00000329862p.T58Ac.172A>GSubstitution - Missense
GRM5ENSG00000168959ENST00000418177p.M397fs*4c.1189delADeletion - Frameshift
ST5ENSG00000166444ENST00000534127p.I940Tc.2819T>CSubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.A2444Tc.7330G>ASubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.A2444Tc.7330G>ASubstitution - Missense
DHX37ENSG00000150990ENST00000308736p.V235Ic.703G>ASubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.I3978Sc.11933T>GSubstitution - Missense
PRAMEF6ENSG00000232423ENST00000355096p.V115Gc.344T>GSubstitution - Missense
PRAMEF11ENSG00000204513ENST00000535591p.I363Vc.1087A>GSubstitution - Missense
EP400ENSG00000183495ENST00000389561p.T807Tc.2421T>CSubstitution - coding silent
WDTC1ENSG00000142784ENST00000361771p.S47Pc.139T>CSubstitution - Missense
RPS6KA1ENSG00000117676ENST00000374168p.R726*c.2176C>TSubstitution - Nonsense
CEP85ENSG00000130695ENST00000252992p.Y482Fc.1445A>TSubstitution - Missense
RHCEENSG00000188672ENST00000413854p.K369Tc.1106A>CSubstitution - Missense
FGGYENSG00000172456ENST00000303721p.T195Ac.583A>GSubstitution - Missense
C8AENSG00000157131ENST00000361249p.A566Sc.1696G>TSubstitution - Missense
TAF12ENSG00000120656ENST00000263974p.L12Pc.35T>CSubstitution - Missense
PTAFRENSG00000169403ENST00000305392p.N33Tc.98A>CSubstitution - Missense
FGRENSG00000000938ENST00000374005p.Y507Yc.1521C>TSubstitution - coding silent
THEMIS2ENSG00000130775ENST00000373921p.Q381Pc.1142A>CSubstitution - Missense
CD164L2ENSG00000174950ENST00000374027p.Q51Qc.153A>GSubstitution - coding silent
WASF2ENSG00000158195ENST00000430629p.R437Rc.1311T>CSubstitution - coding silent
WASF2ENSG00000158195ENST00000430629p.L136fs*21c.407_411delTTACCDeletion - Frameshift
MAP3K6ENSG00000142733ENST00000493901p.N622Sc.1865A>GSubstitution - Missense
GPR153ENSG00000158292ENST00000377893p.?c.357-7A>GUnknown
ICMTENSG00000116237ENST00000343813p.Y205Hc.613T>CSubstitution - Missense
PDE4BENSG00000184588ENST00000423207p.E29Ec.87A>GSubstitution - coding silent
HKDC1ENSG00000156510ENST00000354624p.R274Hc.821G>ASubstitution - Missense
KIAA1279ENSG00000198954ENST00000361983p.R541Hc.1622G>ASubstitution - Missense
P4HA1ENSG00000122884ENST00000263556p.D105Dc.315T>CSubstitution - coding silent
SFMBT2ENSG00000198879ENST00000361972p.T99Mc.296C>TSubstitution - Missense
SFMBT2ENSG00000198879ENST00000379713p.T99Mc.296C>TSubstitution - Missense
ENST00000398860p.H2982Rc.8945A>GSubstitution - Missense
ENST00000398860p.T428Ac.1282A>GSubstitution - Missense
NRXN2ENSG00000110076ENST00000377551p.T1615Ac.4843A>GSubstitution - Missense
CCDC88BENSG00000168071ENST00000356786p.G1351fs*>126c.4047delGDeletion - Frameshift
SLC22A10ENSG00000184999ENST00000332793p.Y126Hc.376T>CSubstitution - Missense
PYGMENSG00000068976ENST00000164139p.Y156Hc.466T>CSubstitution - Missense
SF1ENSG00000168066ENST00000334944p.*639Rc.1915T>CNonstop extension
LTBP3ENSG00000168056ENST00000322147p.R656fs*6c.1965delGDeletion - Frameshift
CATSPER1ENSG00000175294ENST00000312106p.K727fs*5c.2180delADeletion - Frameshift
SF3B2ENSG00000087365ENST00000322535p.?c.2616+2T>CUnknown
FOSL1ENSG00000175592ENST00000312562p.R66Rc.196A>CSubstitution - coding silent
MUS81ENSG00000172732ENST00000308110p.A413Tc.1237G>ASubstitution - Missense
KAT5ENSG00000172977ENST00000341318p.Q205fs*41c.605delTDeletion - Frameshift
PCNXL3ENSG00000197136ENST00000355703p.R1688Cc.5062C>TSubstitution - Missense
RHBDL2ENSG00000158315ENST00000372985p.V125Ac.374T>CSubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.E912Dc.2736G>TSubstitution - Missense
HIVEP3ENSG00000127124ENST00000372583p.S1649Pc.4945T>CSubstitution - Missense
ZNF684ENSG00000117010ENST00000372699p.K297Nc.891A>CSubstitution - Missense
NFYCENSG00000066136ENST00000447388p.K124Nc.372A>CSubstitution - Missense
PPIEENSG00000084072ENST00000356511p.?c.130+10T>CUnknown
SDSENSG00000135094ENST00000257549p.N127Sc.380A>GSubstitution - Missense
NM_004073p.G507Gc.1521T>CSubstitution - coding silent
SRRM4ENSG00000139767ENST00000267260p.A38Vc.113C>TSubstitution - Missense
CAMKK2ENSG00000110931ENST00000324774p.M193Tc.578T>CSubstitution - Missense
HNF1AENSG00000135100ENST00000257555p.D546Gc.1637A>GSubstitution - Missense
ETV6ENSG00000139083ENST00000396373p.D286Gc.857A>GSubstitution - Missense
ANAPC5ENSG00000089053ENST00000261819p.M557Vc.1669A>GSubstitution - Missense
KDM2BENSG00000089094ENST00000377071p.H781Rc.2342A>GSubstitution - Missense
KDM2BENSG00000089094ENST00000377069p.H750Rc.2249A>GSubstitution - Missense
NM_032590.2p.H420Rc.1259A>GSubstitution - Missense
XM_052561.7p.V1553Ac.4658T>CSubstitution - Missense
ENST00000369546p.R92Cc.274C>TSubstitution - Missense
SPAG17ENSG00000155761ENST00000336338p.N891Dc.2671A>GSubstitution - Missense
CLCN6ENSG00000011021ENST00000346436p.E49Gc.146A>GSubstitution - Missense
HIST2H2BEENSG00000184678ENST00000369155p.V49Ac.146T>CSubstitution - Missense
VPS13DENSG00000048707ENST00000358136p.?c.8627-4G>AUnknown
SEMA6CENSG00000143434ENST00000341697p.L503Pc.1508T>CSubstitution - Missense
ARNTENSG00000143437ENST00000358595p.D63Dc.189T>CSubstitution - coding silent
RFX5ENSG00000143390ENST00000368870p.G591Gc.1773T>CSubstitution - coding silent
POU2F1ENSG00000143190ENST00000367862p.S378Cc.1132A>TSubstitution - Missense
POU2F1ENSG00000143190ENST00000367866p.S389Cc.1165A>TSubstitution - Missense
ILDR2ENSG00000143195ENST00000271417p.A325Vc.974C>TSubstitution - Missense
ENST00000300167p.F571fs*37c.1707delTDeletion - Frameshift
TMEM87AENSG00000103978ENST00000389834p.?c.1062+3T>CUnknown
EHD4ENSG00000103966ENST00000220325p.S287Rc.859A>CSubstitution - Missense
SPG11ENSG00000104133ENST00000558319p.S1074Sc.3222T>CSubstitution - coding silent
PDIA3ENSG00000167004ENST00000300289p.T89Ic.266C>TSubstitution - Missense
PDIA3ENSG00000167004ENST00000300289p.C406Cc.1218T>CSubstitution - coding silent
ZSCAN29ENSG00000140265ENST00000396976p.P158Pc.474A>GSubstitution - coding silent
SEMA6DENSG00000137872ENST00000316364p.P367Tc.1099C>ASubstitution - Missense
SEMA6DENSG00000137872ENST00000558014p.P367Tc.1099C>ASubstitution - Missense
DUOX1ENSG00000137857ENST00000389037p.V113Ac.338T>CSubstitution - Missense
EIF3JENSG00000104131ENST00000261868p.A8_G9insAAAc.25_26insCGGCGGCGGInsertion - In frame
ARHGAP5ENSG00000100852ENST00000345122p.T1458Ac.4372A>GSubstitution - Missense
FAM151AENSG00000162391ENST00000302250p.T211Ac.631A>GSubstitution - Missense
TMEM59ENSG00000116209ENST00000234831p.M135Vc.403A>GSubstitution - Missense
PNNENSG00000100941ENST00000216832p.E415Ec.1245A>GSubstitution - coding silent
RALGAPA1ENSG00000174373ENST00000389698p.R809Rc.2427A>GSubstitution - coding silent
NM_020529.1p.L277Pc.830T>CSubstitution - Missense
PRMT3ENSG00000185238ENST00000331079p.D182Vc.545A>TSubstitution - Missense
C11orf88ENSG00000183644ENST00000332814p.?c.339+2T>CUnknown
NM_207430.1p.?c.339+2T>CUnknown
PPP2R1BENSG00000137713ENST00000311129p.A652Ac.1956C>GSubstitution - coding silent
IMMP1LENSG00000148950ENST00000278200p.S99Pc.295T>CSubstitution - Missense
ELP4ENSG00000109911ENST00000350638p.V146Vc.438A>GSubstitution - coding silent
DCDC1ENSG00000170959ENST00000339794p.N304Tc.911A>CSubstitution - Missense
KIF18AENSG00000121621ENST00000263181p.?c.1149+2T>CUnknown
BBOX1ENSG00000129151ENST00000263182p.S142Pc.424T>CSubstitution - Missense
ANO3ENSG00000134343ENST00000256737p.I150Mc.450A>GSubstitution - Missense
ABTB2ENSG00000166016ENST00000435224p.N841Nc.2523T>CSubstitution - coding silent
ABTB2ENSG00000166016ENST00000298992p.N655Nc.1965T>CSubstitution - coding silent
SLC25A24ENSG00000085491ENST00000565488p.F292Lc.874T>CSubstitution - Missense
CASZ1ENSG00000130940ENST00000377022p.H1181Rc.3542A>GSubstitution - Missense
LRIF1ENSG00000121931ENST00000369763p.M537Vc.1609A>GSubstitution - Missense
GPR61ENSG00000156097ENST00000404129p.T327Sc.979A>TSubstitution - Missense
ADORA3ENSG00000121933ENST00000241356p.Y293Cc.878A>GSubstitution - Missense
WDR77ENSG00000116455ENST00000235090p.T113Ac.337A>GSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.K3232Kc.9696A>GSubstitution - coding silent
CD160ENSG00000117281ENST00000369288p.?c.400+6T>CUnknown
CRB1ENSG00000134376ENST00000367400p.Y808*c.2424T>GSubstitution - Nonsense
ABCC1ENSG00000103222ENST00000399410p.Q1026Qc.3078A>GSubstitution - coding silent
KIAA0430ENSG00000166783ENST00000396368p.L462Pc.1385T>CSubstitution - Missense
KIAA0430ENSG00000166783ENST00000344181p.L284Pc.851T>CSubstitution - Missense
IFT140ENSG00000187535ENST00000426508p.A1012Ac.3036C>TSubstitution - coding silent
MAPK8IP3ENSG00000138834ENST00000250894p.?c.3086-9T>CUnknown
ACSM5ENSG00000183549ENST00000331849p.Y435Hc.1303T>CSubstitution - Missense
TMC7ENSG00000170537ENST00000304381p.I506Vc.1516A>GSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.I2505Tc.7514T>CSubstitution - Missense
CUBNENSG00000107611ENST00000377833p.S879Rc.2635A>CSubstitution - Missense
GPR158ENSG00000151025ENST00000376351p.N274Sc.821A>GSubstitution - Missense
ENST00000377072_v68p.F374Yc.1121T>ASubstitution - Missense
ACTN1ENSG00000072110ENST00000193403p.D824Dc.2472T>CSubstitution - coding silent
ACBD5ENSG00000107897ENST00000396271p.T473Tc.1419A>GSubstitution - coding silent
PAPLNENSG00000100767ENST00000427855p.S1265Rc.3795C>ASubstitution - Missense
SIPA1L1ENSG00000197555ENST00000555818p.Q1784Pc.5351A>CSubstitution - Missense
ADAM21ENSG00000139985ENST00000267499p.H206Rc.617A>GSubstitution - Missense
ADAM21ENSG00000139985ENST00000267499p.H206Rc.617A>GSubstitution - Missense
VIPAS39ENSG00000151445ENST00000343765p.S60Sc.180T>CSubstitution - coding silent
LTBP2ENSG00000119681ENST00000261978p.A1674fs*67c.5020delGDeletion - Frameshift
SEMA4BENSG00000185033ENST00000332496p.V295Ec.884T>ASubstitution - Missense
TVP23AENSG00000166676ENST00000299866p.L143Lc.427T>CSubstitution - coding silent
ARRDC4ENSG00000140450ENST00000268042p.S223Cc.668C>GSubstitution - Missense
ENSG00000175604ENST00000312019p.K178Tc.533A>CSubstitution - Missense
ZC3H7AENSG00000122299ENST00000355758p.L116Pc.347T>CSubstitution - Missense
ENST00000426033p.I2156Ic.6468T>CSubstitution - coding silent
ENST00000426033p.L366Pc.1097T>CSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.Q2324Qc.6972G>ASubstitution - coding silent
SLC18A3ENSG00000187714ENST00000374115p.G160Gc.480C>TSubstitution - coding silent
CHATENSG00000070748ENST00000337653p.A362Ac.1086C>TSubstitution - coding silent
C10orf71ENSG00000177354ENST00000323868p.Q123Kc.367C>ASubstitution - Missense
ENST00000417177p.S1116Sc.3348C>ASubstitution - coding silent
PCDH15ENSG00000150275ENST00000414778p.S1116Sc.3348C>ASubstitution - coding silent
PRKG1ENSG00000185532ENST00000401604p.E337Dc.1011A>CSubstitution - Missense
JMJD1CENSG00000171988ENST00000399262p.N2034Tc.6101A>CSubstitution - Missense
JMJD1CENSG00000171988ENST00000402544p.N1797Tc.5390A>CSubstitution - Missense
ZNF365ENSG00000138311ENST00000410046p.R162Sc.486A>CSubstitution - Missense
ZNF365ENSG00000138311ENST00000395254p.R162Sc.486A>CSubstitution - Missense
ANK3ENSG00000151150ENST00000280772p.V811Ac.2432T>CSubstitution - Missense
TET1ENSG00000138336ENST00000373644p.I1073fs*2c.3217_3218insAInsertion - Frameshift
MYPNENSG00000138347ENST00000358913p.D120Dc.360T>CSubstitution - coding silent
LRRC20ENSG00000172731ENST00000373224p.E159Vc.476A>TSubstitution - Missense
H2AFY2ENSG00000099284ENST00000373255p.K123*c.367A>TSubstitution - Nonsense
TYSND1ENSG00000156521ENST00000287078p.Y529Hc.1585T>CSubstitution - Missense
C1orf112ENSG00000000460ENST00000286031p.T425Ac.1273A>GSubstitution - Missense
ATP13A2ENSG00000159363ENST00000326735p.K427Tc.1280A>CSubstitution - Missense
SUCOENSG00000094975ENST00000367723p.D107Gc.320A>GSubstitution - Missense
FMO2ENSG00000094963ENST00000209929p.P467Hc.1400C>ASubstitution - Missense
COL16A1ENSG00000084636ENST00000373672p.?c.1257+3A>GUnknown
PTPRUENSG00000060656ENST00000460170p.G1051Gc.3153C>TSubstitution - coding silent
KIAA0319LENSG00000142687ENST00000325722p.Q293fs*14c.877delCDeletion - Frameshift
ENSG00000116883ENST00000373137p.R30Gc.88C>GSubstitution - Missense
AGO4ENSG00000134698ENST00000373210p.?c.1245+2T>CUnknown
ENST00000335883p.L880Vc.2638T>GSubstitution - Missense
ENST00000567107_v68p.T157fs*46c.469delADeletion - Frameshift
PLEKHM2ENSG00000116786ENST00000375799p.G776Cc.2326G>TSubstitution - Missense
ENST00000420314p.G879Cc.2635G>TSubstitution - Missense
ATP1A4ENSG00000132681ENST00000368081p.K45Ec.133A>GSubstitution - Missense
IGSF8ENSG00000162729ENST00000368086p.M347Tc.1040T>CSubstitution - Missense
CRPENSG00000132693ENST00000255030p.S68Sc.204T>CSubstitution - coding silent
TRPM1ENSG00000134160ENST00000397795p.T1185Tc.3555T>CSubstitution - coding silent
NR1I3ENSG00000143257ENST00000428574p.K323Ec.967A>GSubstitution - Missense
NR1I3ENSG00000143257ENST00000367983p.A230Tc.688G>ASubstitution - Missense
DDR2ENSG00000162733ENST00000367922p.L338Hc.1013T>ASubstitution - Missense
DDR2ENSG00000162733ENST00000367922p.L338Hc.1013T>ASubstitution - Missense
NOS1APENSG00000198929ENST00000361897p.M75Vc.223A>GSubstitution - Missense
PIK3C2AENSG00000011405ENST00000265970p.G1550Gc.4650T>CSubstitution - coding silent
COPB1ENSG00000129083ENST00000249923p.I177Tc.530T>CSubstitution - Missense
PSMA1ENSG00000129084ENST00000418988p.?c.361+7T>CUnknown
TPH1ENSG00000129167ENST00000250018p.E303Kc.907G>ASubstitution - Missense
ENST00000265969_v68p.Q372Qc.1116G>ASubstitution - coding silent
OTOGENSG00000188162ENST00000399397p.A136Vc.407C>TSubstitution - Missense
E2F8ENSG00000129173ENST00000250024p.R781Gc.2341A>GSubstitution - Missense
CACNA1EENSG00000198216ENST00000367570p.M523Vc.1567A>GSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.A1406Ac.4218T>CSubstitution - coding silent
NMNAT2ENSG00000157064ENST00000287713p.N142Sc.425A>GSubstitution - Missense
SHCBP1LENSG00000157060ENST00000367547p.V96Mc.286G>ASubstitution - Missense
GPR162ENSG00000250510ENST00000311268p.F395Sc.1184T>CSubstitution - Missense
NUP107ENSG00000111581ENST00000229179p.Y605Fc.1814A>TSubstitution - Missense
TRHDEENSG00000072657ENST00000261180p.?c.1449+9A>GUnknown
TMPRSS5ENSG00000166682ENST00000299882p.G407fs*3c.1220delGDeletion - Frameshift
NCAM1ENSG00000149294ENST00000316851p.W537*c.1611G>ASubstitution - Nonsense
ENST00000316851_v65p.W537*c.1611G>ASubstitution - Nonsense
SU_QSKp.N838Sc.2513A>GSubstitution - Missense
HTR3BENSG00000149305ENST00000260191p.Y129Cc.386A>GSubstitution - Missense
PHLDB1ENSG00000019144ENST00000361417p.Y592Cc.1775A>GSubstitution - Missense
NM_004397.3p.L67Rc.200T>GSubstitution - Missense
PHLDB1ENSG00000019144ENST00000361417p.L116Rc.347T>GSubstitution - Missense
NM_005933.1p.P3054Pc.9162T>CSubstitution - coding silent
TMPRSS4ENSG00000137648ENST00000437212p.V258Mc.772G>ASubstitution - Missense
TMPRSS13ENSG00000137747ENST00000524993p.A129Vc.386C>TSubstitution - Missense
TMPRSS13ENSG00000137747ENST00000445164p.A129Vc.386C>TSubstitution - Missense
ENST00000375140p.E42Vc.125A>TSubstitution - Missense
NLRX1ENSG00000160703ENST00000292199p.R753Wc.2257C>TSubstitution - Missense
NLRX1ENSG00000160703ENST00000409265p.R753Wc.2257C>TSubstitution - Missense
HYOU1ENSG00000149428ENST00000404233p.A739fs*54c.2214delADeletion - Frameshift
ENST00000260246p.S185Sc.555A>CSubstitution - coding silent
ENST00000298815_v65p.L677Pc.2030T>CSubstitution - Missense
ARHGAP42ENSG00000165895ENST00000298815p.L249Pc.746T>CSubstitution - Missense
TMEM133ENSG00000170647ENST00000303130p.H12Rc.35A>GSubstitution - Missense
RNF141ENSG00000110315ENST00000265981p.P66Ac.196C>GSubstitution - Missense
MUC2ENSG00000198788ENST00000441003p.T2042Tc.6126G>ASubstitution - coding silent
MUC2ENSG00000198788ENST00000441003p.C882Rc.2644T>CSubstitution - Missense
MUC2ENSG00000198788ENST00000359061p.C882Rc.2644T>CSubstitution - Missense
EXPH5ENSG00000110723ENST00000265843p.S1104Nc.3311G>ASubstitution - Missense
EXPH5ENSG00000110723ENST00000265843p.K1011Kc.3033A>GSubstitution - coding silent
ATMENSG00000149311ENST00000278616p.?c.4236+6T>CUnknown
CUL5ENSG00000166266ENST00000393094p.N565fs*3c.1694_1695insAInsertion - Frameshift
MS4A4AENSG00000110079ENST00000337908p.S133Rc.397A>CSubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.A365Ac.1095G>ASubstitution - coding silent
MPEG1ENSG00000197629ENST00000361050p.M26Vc.76A>GSubstitution - Missense
OR5AN1ENSG00000176495ENST00000313940p.M151Tc.452T>CSubstitution - Missense
FAM111BENSG00000189057ENST00000343597p.D437Gc.1310A>GSubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.D2552Ac.7655A>CSubstitution - Missense
BEST1ENSG00000167995ENST00000449131p.P397fs*25c.1187delCDeletion - Frameshift
BEST1ENSG00000167995ENST00000378043p.P457fs*25c.1367delCDeletion - Frameshift
BRMS1ENSG00000174744ENST00000425825p.I164Vc.490A>GSubstitution - Missense
ZBTB3ENSG00000185670ENST00000394807p.T83Ac.247A>GSubstitution - Missense
INTS5ENSG00000185085ENST00000330574p.L489Lc.1465T>CSubstitution - coding silent
CDHR5ENSG00000099834ENST00000358353p.L97Rc.290T>GSubstitution - Missense
RAD9AENSG00000172613ENST00000307980p.K96fs*6c.284delADeletion - Frameshift
SYT12ENSG00000173227ENST00000393946p.M414Vc.1240A>GSubstitution - Missense
SPTBN2ENSG00000173898ENST00000309996p.R1935Hc.5804G>ASubstitution - Missense
PPP6R3ENSG00000110075ENST00000529710p.L372Sc.1115T>CSubstitution - Missense
PPP6R3ENSG00000110075ENST00000265636p.L464Pc.1391T>CSubstitution - Missense
C11orf24ENSG00000171067ENST00000304271p.R250Hc.749G>ASubstitution - Missense
PPP1CAENSG00000172531ENST00000312989p.P69Pc.207C>TSubstitution - coding silent
PPP1CAENSG00000172531ENST00000376745p.P58Pc.174C>TSubstitution - coding silent
SHANK2ENSG00000162105ENST00000338508p.R111Cc.331C>TSubstitution - Missense
PPFIA1ENSG00000131626ENST00000253925p.G410Dc.1229G>ASubstitution - Missense
PLXNC1ENSG00000136040ENST00000258526p.D375Gc.1124A>GSubstitution - Missense
KERAENSG00000139330ENST00000266719p.H288Qc.864C>ASubstitution - Missense
TMTC4ENSG00000125247ENST00000342624p.G119Gc.357A>TSubstitution - coding silent
WNK1ENSG00000060237ENST00000537687p.L2038Lc.6114G>ASubstitution - coding silent
ENST00000342887p.V1160Ac.3479T>CSubstitution - Missense
LTA4HENSG00000111144ENST00000228740p.P121Pc.363T>CSubstitution - coding silent
CDK17ENSG00000059758ENST00000261211p.D110Nc.328G>ASubstitution - Missense
E2F2ENSG00000007968ENST00000361729p.S402Gc.1204A>GSubstitution - Missense
ENST00000376032_v68p.N191Dc.571A>GSubstitution - Missense
ERCC5ENSG00000134899ENST00000355739p.R216delRc.643_645delAGADeletion - In frame
MYOM3ENSG00000142661ENST00000374434p.K138Tc.413A>CSubstitution - Missense
ZBTB18ENSG00000179456ENST00000358704p.T215Tc.645A>CSubstitution - coding silent
PLCH2ENSG00000149527ENST00000378486p.R1183fs*15c.3541delCDeletion - Frameshift
C10orf118ENSG00000165813ENST00000369287p.D738Dc.2214T>CSubstitution - coding silent
TIAL1ENSG00000151923ENST00000369093p.?c.499-3T>AUnknown
ENST00000379172p.V569Ac.1706T>CSubstitution - Missense
KIAA1598ENSG00000187164ENST00000355371p.T537fs*3c.1607_1608insCInsertion - Frameshift
ATRNL1ENSG00000107518ENST00000355044p.Y409Hc.1225T>CSubstitution - Missense
DHTKD1ENSG00000181192ENST00000263035p.A468Ac.1404T>CSubstitution - coding silent
WNT8BENSG00000075290ENST00000343737p.C324Rc.970T>CSubstitution - Missense
DNMBPENSG00000107554ENST00000324109p.P419Pc.1257T>CSubstitution - coding silent
DNMBPENSG00000107554ENST00000342239p.P419Pc.1257T>CSubstitution - coding silent
CUEDC2ENSG00000107874ENST00000369937p.?c.657-2A>GUnknown
GBF1ENSG00000107862ENST00000369983p.P887Pc.2661T>CSubstitution - coding silent
HEPHL1ENSG00000181333ENST00000315765p.A693Ec.2078C>ASubstitution - Missense
XPNPEP1ENSG00000108039ENST00000369680p.Y526Hc.1576T>CSubstitution - Missense
SORCS1ENSG00000108018ENST00000344440p.H1085Lc.3254A>TSubstitution - Missense
CALHM1ENSG00000185933ENST00000329905p.C44Rc.130T>CSubstitution - Missense
PDCD11ENSG00000148843ENST00000369797p.T524fs*2c.1564delADeletion - Frameshift
NT5C2ENSG00000076685ENST00000343289p.T316Ac.946A>GSubstitution - Missense
NT5C2ENSG00000076685ENST00000343289p.Y60Hc.178T>CSubstitution - Missense
AMOTL1ENSG00000166025ENST00000433060p.D336Ac.1007A>CSubstitution - Missense
CHST11ENSG00000171310ENST00000303694p.D285Gc.854A>GSubstitution - Missense
NFYBENSG00000120837ENST00000240055p.?c.7-6T>CUnknown
ANO6ENSG00000177119ENST00000320560p.?c.998+4A>CUnknown
RNF6ENSG00000127870ENST00000346166p.S287Sc.861T>CSubstitution - coding silent
BRCA2ENSG00000139618ENST00000544455p.S617Pc.1849T>CSubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.S617Pc.1849T>CSubstitution - Missense
RFXAPENSG00000133111ENST00000255476p.H165Rc.494A>GSubstitution - Missense
RFC3ENSG00000133119ENST00000434425p.Y41Hc.121T>CSubstitution - Missense
RFC3ENSG00000133119ENST00000380071p.Y41Hc.121T>CSubstitution - Missense
KLENSG00000133116ENST00000380099p.H467Rc.1400A>GSubstitution - Missense
TTC13ENSG00000143643ENST00000366661p.Q501Rc.1502A>GSubstitution - Missense
CAPN9ENSG00000135773ENST00000354537p.?c.1968+8C>TUnknown
URB2ENSG00000135763ENST00000258243p.?c.3906+2T>CUnknown
URB2ENSG00000135763ENST00000258243p.V456Ac.1367T>CSubstitution - Missense
TBCEENSG00000116957ENST00000543662p.T200Tc.600T>CSubstitution - coding silent
SLC35F3ENSG00000183780ENST00000366618p.P67Sc.199C>TSubstitution - Missense
POLEENSG00000177084ENST00000320574p.Y766Cc.2297A>GSubstitution - Missense
GYS2ENSG00000111713ENST00000261195p.T485Tc.1455C>TSubstitution - coding silent
IAPPENSG00000121351ENST00000240652p.G57Gc.171T>CSubstitution - coding silent
PYROXD1ENSG00000121350ENST00000240651p.A3Vc.8C>TSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.L915Lc.2743C>TSubstitution - coding silent
ADCY6ENSG00000174233ENST00000307885p.P61fs*36c.182delCDeletion - Frameshift
TMBIM6ENSG00000139644ENST00000267115p.N9Sc.26A>GSubstitution - Missense
KCNH3ENSG00000135519ENST00000257981p.S1048Pc.3142T>CSubstitution - Missense
RACGAP1ENSG00000161800ENST00000427314p.?c.879+2T>CUnknown
CERS5ENSG00000139624ENST00000317551p.V237Ac.710T>CSubstitution - Missense
MORF4L1ENSG00000185787ENST00000331268p.N265Sc.794A>GSubstitution - Missense
KRT74ENSG00000170484ENST00000305620p.A485Vc.1454C>TSubstitution - Missense
STARD5ENSG00000172345ENST00000302824p.V64Gc.191T>GSubstitution - Missense
RASGRF1ENSG00000058335ENST00000419573p.N883Dc.2647A>GSubstitution - Missense
ZSCAN2ENSG00000176371ENST00000448803p.K425Ec.1273A>GSubstitution - Missense
NMBENSG00000197696ENST00000360476p.A106Ac.318A>GSubstitution - coding silent
ADAMTSL3ENSG00000156218ENST00000286744p.Y464Cc.1391A>GSubstitution - Missense
ENST00000268134p.N333Sc.998A>GSubstitution - Missense
ACANENSG00000157766ENST00000439576p.N333Sc.998A>GSubstitution - Missense
ENST00000268134p.D889Gc.2666A>GSubstitution - Missense
ACANENSG00000157766ENST00000439576p.D889Gc.2666A>GSubstitution - Missense
ACANENSG00000157766ENST00000439576p.R890Rc.2668A>CSubstitution - coding silent
P2RY6ENSG00000171631ENST00000393590p.R21Rc.63C>TSubstitution - coding silent
ARHGEF17ENSG00000110237ENST00000263674p.H2008Rc.6023A>GSubstitution - Missense
C11orf30ENSG00000158636ENST00000334736p.S1278Sc.3834T>CSubstitution - coding silent
LRRC32ENSG00000137507ENST00000260061p.D509Vc.1526A>TSubstitution - Missense
UVRAGENSG00000198382ENST00000356136p.?c.1306-2A>GUnknown
XRRA1ENSG00000166435ENST00000340360p.G428fs*4c.1283delGDeletion - Frameshift
C2CD3ENSG00000168014ENST00000313663p.V59Vc.177A>GSubstitution - coding silent
NARS2ENSG00000137513ENST00000281038p.T163Tc.489A>CSubstitution - coding silent
INTS4ENSG00000149262ENST00000534064p.L471Lc.1413A>GSubstitution - coding silent
RSF1ENSG00000048649ENST00000308488p.E1290Ec.3870A>GSubstitution - coding silent
PSTKENSG00000179988ENST00000368887p.?c.878-6A>TUnknown
PSTKENSG00000179988ENST00000368887p.T302Tc.906A>GSubstitution - coding silent
SEPHS1ENSG00000086475ENST00000327347p.K369Nc.1107A>CSubstitution - Missense
EBF3ENSG00000108001ENST00000368648p.D398Gc.1193A>GSubstitution - Missense
EIF5ENSG00000100664ENST00000392715p.Y14Cc.41A>GSubstitution - Missense
ZNF511ENSG00000198546ENST00000361518p.Q145Rc.434A>GSubstitution - Missense
ADSSL1ENSG00000185100ENST00000332972p.R381Hc.1142G>ASubstitution - Missense
ASPGENSG00000166183ENST00000551177p.V304Ac.911T>CSubstitution - Missense
ENST00000299234p.V332Ac.995T>CSubstitution - Missense
PPP1R13BENSG00000088808ENST00000202556p.N721Tc.2162A>CSubstitution - Missense
ANGENSG00000214274ENST00000336811p.N87Tc.260A>CSubstitution - Missense
BRF1ENSG00000185024ENST00000546474p.E514Gc.1541A>GSubstitution - Missense
MMP14ENSG00000157227ENST00000311852p.S251Gc.751A>GSubstitution - Missense
ABHD4ENSG00000100439ENST00000428304p.P306Pc.918G>ASubstitution - coding silent
SLC7A8ENSG00000092068ENST00000316902p.L171Fc.511C>TSubstitution - Missense
ACIN1ENSG00000100813ENST00000262710p.?c.3599-7A>GUnknown
ACIN1ENSG00000100813ENST00000338631p.?c.1418-7A>GUnknown
ACIN1ENSG00000100813ENST00000338631p.?c.301+9A>GUnknown
TM9SF1ENSG00000100926ENST00000261789p.T231Tc.693A>GSubstitution - coding silent
MDP1ENSG00000213920ENST00000288087p.P52Pc.156T>CSubstitution - coding silent
PCK2ENSG00000100889ENST00000216780p.T373Ac.1117A>GSubstitution - Missense
PCK2ENSG00000100889ENST00000396973p.T373Ac.1117A>GSubstitution - Missense
LPXNENSG00000110031ENST00000395074p.Q334Qc.1002G>ASubstitution - coding silent
AP4S1ENSG00000100478ENST00000216366p.V8Ec.23T>ASubstitution - Missense
AP4S1ENSG00000100478ENST00000542754p.V8Ec.23T>ASubstitution - Missense
MS4A12ENSG00000071203ENST00000016913p.M97Lc.289A>CSubstitution - Missense
NM_015057.1p.G759Gc.2277T>CSubstitution - coding silent
UBE4BENSG00000130939ENST00000253251p.K139Kc.417G>ASubstitution - coding silent
NAMPTLENSG00000229644ENST00000440465p.R415Gc.1243A>GSubstitution - Missense
NRP1ENSG00000099250ENST00000374823p.G572Vc.1715G>TSubstitution - Missense
EPC1ENSG00000120616ENST00000263062p.S257fs*8c.769delADeletion - Frameshift
RASGEF1AENSG00000198915ENST00000395809p.R327Mc.980G>TSubstitution - Missense
NM_145313.1p.R274Mc.821G>TSubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.T903Sc.2708C>GSubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.W4293Gc.12877T>GSubstitution - Missense
RAB3GAP2ENSG00000118873ENST00000358951p.F1171Vc.3511T>GSubstitution - Missense
TP53BP2ENSG00000143514ENST00000343537p.F84Lc.252C>ASubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.D3261Nc.9781G>ASubstitution - Missense
CDC42BPAENSG00000143776ENST00000366766p.N979Kc.2937C>GSubstitution - Missense
ZSWIM8ENSG00000214655ENST00000398706p.Y1701fs*3c.5100_5101insCInsertion - Frameshift
ZSWIM8ENSG00000214655ENST00000398706p.Y1081fs*3c.3240_3241insCInsertion - Frameshift
ENST00000412131p.?c.362+4A>GUnknown
NM_152586.2p.A221Ac.663T>CSubstitution - coding silent
KAT6BENSG00000156650ENST00000287239p.D663Dc.1989T>CSubstitution - coding silent
AP3M1ENSG00000185009ENST00000372745p.L7Rc.20T>GSubstitution - Missense
OPN4ENSG00000122375ENST00000372071p.I360Ic.1080T>ASubstitution - coding silent
KIF20BENSG00000138182ENST00000260753p.D1418Gc.4253A>GSubstitution - Missense
KIF20BENSG00000138182ENST00000416354p.D1488Gc.4463A>GSubstitution - Missense
NOC3LENSG00000173145ENST00000371361p.?c.1644+2T>CUnknown
SBF2ENSG00000133812ENST00000256190p.L123Lc.367T>CSubstitution - coding silent
PGAM1ENSG00000171314ENST00000334828p.A3Sc.7G>TSubstitution - Missense
C10orf12ENSG00000155640ENST00000286067p.I596fs*7c.1780delGDeletion - Frameshift
C10orf12ENSG00000155640ENST00000286067p.Q675Rc.2024A>GSubstitution - Missense
OR8B3ENSG00000196661ENST00000354597p.D180Gc.539A>GSubstitution - Missense
OR8B8ENSG00000197125ENST00000328064p.P58Pc.174T>CSubstitution - coding silent
SPA17ENSG00000064199ENST00000227135p.R67Hc.200G>ASubstitution - Missense
ENST00000349637p.A3068Tc.9202G>ASubstitution - Missense
TIRAPENSG00000150455ENST00000392679p.L69Lc.207G>ASubstitution - coding silent
RRM1ENSG00000167325ENST00000300738p.M655Tc.1964T>CSubstitution - Missense
DGKZENSG00000149091ENST00000343674p.E866fs*4c.2594_2595insCInsertion - Frameshift
PHF21AENSG00000135365ENST00000418153p.P189Pc.567T>CSubstitution - coding silent
ACCSLENSG00000205126ENST00000378832p.H354Hc.1062T>CSubstitution - coding silent
MYBPC3ENSG00000134571ENST00000399249p.?c.2995-10C>AUnknown
LRP4ENSG00000134569ENST00000378623p.I992Tc.2975T>CSubstitution - Missense
CHRM4ENSG00000180720ENST00000433765p.F197Lc.589T>CSubstitution - Missense
AMBRA1ENSG00000110497ENST00000458649p.T1267Ac.3799A>GSubstitution - Missense
PTPRJENSG00000149177ENST00000418331p.A664Ac.1992T>CSubstitution - coding silent
PEAR1ENSG00000187800ENST00000338302p.R190Cc.568C>TSubstitution - Missense
CD1EENSG00000158488ENST00000368167p.Y142Hc.424T>CSubstitution - Missense
PTGES3ENSG00000110958ENST00000262033p.N46Dc.136A>GSubstitution - Missense
IFI16ENSG00000163565ENST00000368131p.Q408Pc.1223A>CSubstitution - Missense
MNDAENSG00000163563ENST00000368141p.K98Tc.293A>CSubstitution - Missense
OR6N1ENSG00000197403ENST00000335094p.L124Lc.372A>GSubstitution - coding silent
TSPAN31ENSG00000135452ENST00000257910p.H44Rc.131A>GSubstitution - Missense
ARHGEF25ENSG00000240771ENST00000333972p.P597Pc.1791A>GSubstitution - coding silent
MSRB3ENSG00000174099ENST00000355192p.V181Vc.543C>TSubstitution - coding silent
MSRB3ENSG00000174099ENST00000308259p.V174Vc.522C>TSubstitution - coding silent
LEMD3ENSG00000174106ENST00000308330p.N510Tc.1529A>CSubstitution - Missense
DPY19L2ENSG00000177990ENST00000324472p.I612Tc.1835T>CSubstitution - Missense
NANOGNBENSG00000205857ENST00000382119p.?c.436-10T>GUnknown
ZDHHC17ENSG00000186908ENST00000426126p.Y18Hc.52T>CSubstitution - Missense
CD163ENSG00000177575ENST00000396620p.G244Gc.732A>GSubstitution - coding silent
ENST00000307147p.D213Hc.637G>CSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.T3466fs*8c.10394delCDeletion - Frameshift
POC1BENSG00000139323ENST00000313546p.V108Ac.323T>CSubstitution - Missense
CEP290ENSG00000198707ENST00000552810p.S1050Sc.3150T>CSubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.T3650fs*8c.10946delCDeletion - Frameshift
EPHB2ENSG00000133216ENST00000374632p.L471Mc.1411C>ASubstitution - Missense
NM_017449p.L471Mc.1411C>ASubstitution - Missense
C1orf198ENSG00000119280ENST00000366663p.T247Sc.740C>GSubstitution - Missense
UNC5DENSG00000156687ENST00000404895p.K364Nc.1092A>CSubstitution - Missense
UNC5DENSG00000156687ENST00000287272p.K359Nc.1077A>CSubstitution - Missense
CELSR2ENSG00000143126ENST00000271332p.K2316Tc.6947A>CSubstitution - Missense
NM_013266.1p.T454Pc.1360A>CSubstitution - Missense
CYP24A1ENSG00000019186ENST00000216862p.D139Gc.416A>GSubstitution - Missense
DYNC1H1ENSG00000197102ENST00000360184p.E3755Gc.11264A>GSubstitution - Missense
DYNC1I1ENSG00000158560ENST00000324972p.V607Ac.1820T>CSubstitution - Missense
FANCD2ENSG00000144554ENST00000287647p.T566Ac.1696A>GSubstitution - Missense
FANCD2ENSG00000144554ENST00000419585p.T566Ac.1696A>GSubstitution - Missense
FLNCENSG00000128591ENST00000325888p.T1921Ic.5762C>TSubstitution - Missense
ITGA2ENSG00000164171ENST00000296585p.N227Dc.679A>GSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.K3772Ic.11315A>TSubstitution - Missense
MIB1ENSG00000101752ENST00000261537p.V645Ic.1933G>ASubstitution - Missense
MTORENSG00000198793ENST00000361445p.N1765Dc.5293A>GSubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.H515Lc.1544A>TSubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.H515Lc.1544A>TSubstitution - Missense
PAPPA2ENSG00000116183ENST00000367662p.S234Gc.700A>GSubstitution - Missense
MAGI1ENSG00000151276ENST00000483466p.D524Gc.1571A>GSubstitution - Missense
ACEENSG00000159640ENST00000290866p.N272Sc.815A>GSubstitution - Missense
ACTN1ENSG00000072110ENST00000193403p.F399Cc.1196T>GSubstitution - Missense
NM_147171.1p.N3615Sc.10844A>GSubstitution - Missense
ATP10AENSG00000206190ENST00000356865p.L599Vc.1795C>GSubstitution - Missense
CCNFENSG00000162063ENST00000397066p.I43Vc.127A>GSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.R273Hc.818G>ASubstitution - Missense
ACOT7ENSG00000097021ENST00000377842p.R313Wc.937C>TSubstitution - Missense
PA2G4ENSG00000170515ENST00000303305p.K372fs*16c.1108delADeletion - Frameshift
C1orf147ENSG00000162888ENST00000367119p.W223Rc.667T>CSubstitution - Missense
SRGAP2ENSG00000163486ENST00000295713p.?c.1296-8A>GUnknown
UNC79ENSG00000133958ENST00000256339p.V839Ic.2515G>ASubstitution - Missense
CD34ENSG00000174059ENST00000310833p.G351Gc.1053A>GSubstitution - coding silent
CR1ENSG00000203710ENST00000367049p.L168Pc.503T>CSubstitution - Missense
ITGB7ENSG00000139626ENST00000422257p.M6Vc.16A>GSubstitution - Missense
TENC1ENSG00000111077ENST00000314276p.E415Ac.1244A>CSubstitution - Missense
KRT3ENSG00000186442ENST00000417996p.P189Tc.565C>ASubstitution - Missense
ESYT1ENSG00000139641ENST00000394048p.L1033Pc.3098T>CSubstitution - Missense
MYO9AENSG00000066933ENST00000356056p.?c.1722+6T>CUnknown
THSD4ENSG00000187720ENST00000355327p.R574Cc.1720C>TSubstitution - Missense
CYP1A2ENSG00000140505ENST00000343932p.T146Ac.436A>GSubstitution - Missense
CYP11A1ENSG00000140459ENST00000268053p.A368Tc.1102G>ASubstitution - Missense
SEMA7AENSG00000138623ENST00000261918p.Y608Cc.1823A>GSubstitution - Missense
ISLR2ENSG00000167178ENST00000361742p.E44Gc.131A>GSubstitution - Missense
LOXL1ENSG00000129038ENST00000261921p.Q175Qc.525G>ASubstitution - coding silent
PEAK1ENSG00000173517ENST00000312493p.N1607Nc.4821C>TSubstitution - coding silent
PEAK1ENSG00000173517ENST00000312493p.N1607Nc.4821C>TSubstitution - coding silent
PEAK1ENSG00000173517ENST00000312493p.R933Cc.2797C>TSubstitution - Missense
CSPG4ENSG00000173546ENST00000308508p.W2055Rc.6163T>CSubstitution - Missense
MAN2C1ENSG00000140400ENST00000267978p.C584Cc.1752C>TSubstitution - coding silent
ZC3H13ENSG00000123200ENST00000282007p.R262Rc.786T>CSubstitution - coding silent
DGKHENSG00000102780ENST00000337343p.?c.1912+8T>CUnknown
PHF11ENSG00000136147ENST00000378319p.?c.505+6T>CUnknown
EBPLENSG00000123179ENST00000242827p.N69Sc.206A>GSubstitution - Missense
RB1ENSG00000139687ENST00000267163p.I517Vc.1549A>GSubstitution - Missense
LPAR6ENSG00000139679ENST00000345941p.N306Sc.917A>GSubstitution - Missense
PIBF1ENSG00000083535ENST00000326291p.Q483Pc.1448A>CSubstitution - Missense
DACH1ENSG00000165659ENST00000359684p.L657fs*1c.1970delTDeletion - Frameshift
PCDH9ENSG00000184226ENST00000377865p.V473Vc.1419A>GSubstitution - coding silent
PCDH17ENSG00000118946ENST00000377918p.K199Tc.596A>CSubstitution - Missense
CKAP2ENSG00000136108ENST00000258607p.L515Vc.1543T>GSubstitution - Missense
CMKLR1ENSG00000174600ENST00000312143p.M3Tc.8T>CSubstitution - Missense
PWP1ENSG00000136045ENST00000412830p.?c.966-5T>CUnknown
YBX3ENSG00000060138ENST00000228251p.R331Rc.993T>CSubstitution - coding silent
OXGR1ENSG00000165621ENST00000298440p.V212Vc.636G>ASubstitution - coding silent
DZIP1ENSG00000134874ENST00000347108p.T144Pc.430A>CSubstitution - Missense
SLITRK6ENSG00000184564ENST00000400286p.H422Rc.1265A>GSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R273Hc.818G>ASubstitution - Missense
ENST00000414315p.V84Mc.250G>ASubstitution - Missense
ENST00000545858p.V123Mc.367G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R273Hc.818G>ASubstitution - Missense
ADRA1AENSG00000120907ENST00000380586p.P293Sc.877C>TSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.N4526Sc.15500A>GSubstitution - Missense
SZRD1ENSG00000055070ENST00000401088p.K26fs*2c.71delADeletion - Frameshift
INSRRENSG00000027644ENST00000368195p.L920fs*37c.2757delGDeletion - Frameshift
SNRNP70ENSG00000104852ENST00000221448p.R16fs*2c.40_41insCInsertion - Frameshift
EPS8L3ENSG00000198758ENST00000369805p.N274fs*33c.821delADeletion - Frameshift
TRAPPC8ENSG00000153339ENST00000283351p.R609Cc.1825C>TSubstitution - Missense
ACOT7ENSG00000097021ENST00000361521p.R354Wc.1060C>TSubstitution - Missense
ZNF292ENSG00000188994ENST00000339907p.S1904fs*11c.5702delADeletion - Frameshift
ZNF292ENSG00000188994ENST00000369577p.S2049fs*11c.6137delADeletion - Frameshift
TRPS1ENSG00000104447ENST00000395715p.N1289fs*>6c.3866delADeletion - Frameshift
FAM50BENSG00000145945ENST00000380274p.A258Vc.773C>TSubstitution - Missense
OR51E2ENSG00000167332ENST00000396950p.F156fs*6c.467delTDeletion - Frameshift
ATAD2ENSG00000156802ENST00000287394p.P619Pc.1857A>GSubstitution - coding silent
EPHA5ENSG00000145242ENST00000273854p.R896Hc.2687G>ASubstitution - Missense
MBD6ENSG00000166987ENST00000355673p.P595Pc.1785T>CSubstitution - coding silent
KRTAP26-1ENSG00000197683ENST00000360542p.R144Hc.431G>ASubstitution - Missense
BANPENSG00000172530ENST00000393207p.V229Ac.686T>CSubstitution - Missense
FBXL17ENSG00000145743ENST00000542267p.R614*c.1840C>TSubstitution - Nonsense
FAM212BENSG00000197852ENST00000444059p.A102Tc.304G>ASubstitution - Missense
ZNF514ENSG00000144026ENST00000295208p.T399fs*>2c.1195delADeletion - Frameshift
CEP85LENSG00000111860ENST00000368491p.K551fs*16c.1653delADeletion - Frameshift
KIAA1549ENSG00000122778ENST00000422774p.L283fs*1c.848delTDeletion - Frameshift
POFUT2ENSG00000186866ENST00000349485p.F253Lc.757T>CSubstitution - Missense
TTKENSG00000112742ENST00000369798p.K857fs?c.2565delADeletion - Frameshift
PAAF1ENSG00000175575ENST00000310571p.R207Cc.619C>TSubstitution - Missense
OR52E8ENSG00000183269ENST00000537935p.F257fs*9c.771delTDeletion - Frameshift
WDR72ENSG00000166415ENST00000396328p.M778fs*9c.2332delADeletion - Frameshift
THSD4ENSG00000187720ENST00000355327p.C370fs*23c.1103delCDeletion - Frameshift
ELK3ENSG00000111145ENST00000228741p.K293fs*49c.874delADeletion - Frameshift
PPLENSG00000118898ENST00000345988p.T455fs*37c.1362delCDeletion - Frameshift
IL21RENSG00000103522ENST00000395754p.G360fs*20c.1074delGDeletion - Frameshift
HECW2ENSG00000138411ENST00000260983p.V922fs*1c.2763delCDeletion - Frameshift
ENST00000353957p.N285fs*6c.847delADeletion - Frameshift
SCN7AENSG00000136546ENST00000409855p.N78fs*8c.233_234insAInsertion - Frameshift
SCN7AENSG00000136546ENST00000409855p.N78fs*8c.233_234insAInsertion - Frameshift
CEACAM19ENSG00000186567ENST00000358777p.T216Tc.648G>ASubstitution - coding silent
CPAMD8ENSG00000160111ENST00000291440p.D1588Nc.4762G>ASubstitution - Missense
XCR1ENSG00000173578ENST00000309285p.Y14fs*33c.40delTDeletion - Frameshift
ASXL1ENSG00000171456ENST00000375687p.D1127Gc.3380A>GSubstitution - Missense
PSME4ENSG00000068878ENST00000404125p.T1805fs*>39c.5413delADeletion - Frameshift
NM_012197.2p.N858fs*15c.2566delADeletion - Frameshift
NM_006904p.Y3715Cc.11144A>GSubstitution - Missense
SEMA3DENSG00000153993ENST00000284136p.T646Ac.1936A>GSubstitution - Missense
CTTNBP2ENSG00000077063ENST00000160373p.G1360Gc.4080C>TSubstitution - coding silent
CNOT3ENSG00000088038ENST00000221232p.P244fs*9c.724_725insCInsertion - Frameshift
CNOT3ENSG00000088038ENST00000358389p.P63fs*9c.181_182insCInsertion - Frameshift
NPHS1ENSG00000161270ENST00000378910p.T1152Mc.3455C>TSubstitution - Missense
ROR2ENSG00000169071ENST00000375708p.S677Pc.2029T>CSubstitution - Missense
TSHZ2ENSG00000182463ENST00000371497p.D51Gc.152A>GSubstitution - Missense


COSMIC

74 mutations reported
1 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
NM_002203.2p.N227Dc.679A>GSubstitution - Missense23292937
PPP6R3ENSG00000110075ENST00000265636p.L372Sc.1115T>CSubstitution - Missense23292937
TP53ENSG00000141510ENST00000269305p.V216Mc.646G>ASubstitution - Missense23292937
UNC13BENSG00000198722ENST00000378495p.H1026Rc.3077A>GSubstitution - Missense23292937
PDIA2ENSG00000185615ENST00000219406p.A316Sc.946G>TSubstitution - Missense23292937
UNC5DENSG00000156687ENST00000287272p.Q725Hc.2175A>TSubstitution - Missense23292937
MORC2ENSG00000133422ENST00000215862p.I435Tc.1304T>CSubstitution - Missense23292937
CTNNA3ENSG00000183230ENST00000433211p.N816Sc.2447A>GSubstitution - Missense23292937
UNC13BENSG00000198722ENST00000378495p.S263Fc.788C>TSubstitution - Missense23292937
SPTBN1ENSG00000115306ENST00000333896p.K388Tc.1163A>CSubstitution - Missense23292937
PTENENSG00000171862ENST00000371953p.?c.210-52delTUnknown9931326
TET2ENSG00000168769ENST00000380013p.H658Pc.1973A>CSubstitution - Missense23831920
NF1ENSG00000196712ENST00000358273p.M2473Vc.7417A>GSubstitution - Missense23292937
MARCH7ENSG00000136536ENST00000259050p.M557Vc.1669A>GSubstitution - Missense23292937
UNC5DENSG00000156687ENST00000404895p.Q730Hc.2190A>TSubstitution - Missense23292937
TSHZ2ENSG00000182463ENST00000371497p.D51Gc.152A>GSubstitution - Missense23292937
LEPREL1ENSG00000090530ENST00000319332p.T658Ac.1972A>GSubstitution - Missense23292937
CYP24A1ENSG00000019186ENST00000216862p.D139Gc.416A>GSubstitution - Missense23292937
PAPPA2ENSG00000116183ENST00000367661p.S234Gc.700A>GSubstitution - Missense23292937
ROR2ENSG00000169071ENST00000375708p.S677Pc.2029T>CSubstitution - Missense23292937
CCNFENSG00000162063ENST00000397066p.I43Vc.127A>GSubstitution - Missense23292937
AKAP9ENSG00000127914ENST00000356239p.N3611Sc.10832A>GSubstitution - Missense23292937
DYNC1I1ENSG00000158560ENST00000324972p.V607Ac.1820T>CSubstitution - Missense23292937
ATP10AENSG00000206190ENST00000356865p.L599Vc.1795C>GSubstitution - Missense23292937
CELSR2ENSG00000143126ENST00000271332p.K2316Tc.6947A>CSubstitution - Missense23292937
DSCAML1ENSG00000177103ENST00000321322p.C1614*c.4842C>ASubstitution - Nonsense23292937
SEMA3DENSG00000153993ENST00000284136p.T646Ac.1936A>GSubstitution - Missense23292937
FANCD2ENSG00000144554ENST00000287647p.T566Ac.1696A>GSubstitution - Missense23292937
TP53ENSG00000141510ENST00000413465p.V216Mc.646G>ASubstitution - Missense23292937
FRMPD1ENSG00000070601ENST00000377765p.V203Ac.608T>CSubstitution - Missense23292937
ENST00000545858p.V123Mc.367G>ASubstitution - Missense23292937
PAPPA2ENSG00000116183ENST00000367662p.S234Gc.700A>GSubstitution - Missense23292937
NM_013266.1p.N816Sc.2447A>GSubstitution - Missense23292937
WDR65ENSG00000243710ENST00000528956p.D327Gc.980A>GSubstitution - Missense23292937
IQGAP1ENSG00000140575ENST00000268182p.R438Qc.1313G>ASubstitution - Missense23292937
FLNCENSG00000128591ENST00000325888p.T1921Ic.5762C>TSubstitution - Missense23292937
ITGA2ENSG00000164171ENST00000296585p.N227Dc.679A>GSubstitution - Missense23292937
EPHA5ENSG00000145242ENST00000273854p.R896Hc.2687G>ASubstitution - Missense23292937
MAGI1ENSG00000151276ENST00000483466p.D524Gc.1571A>GSubstitution - Missense23292937
NSD1ENSG00000165671ENST00000439151p.H515Lc.1544A>TSubstitution - Missense23292937
GREM2ENSG00000180875ENST00000318160p.A121Tc.361G>ASubstitution - Missense23292937
ENST00000414315p.V84Mc.250G>ASubstitution - Missense23292937
ACEENSG00000159640ENST00000290866p.N272Sc.815A>GSubstitution - Missense23292937
LRP1BENSG00000168702ENST00000389484p.K3772Ic.11315A>TSubstitution - Missense23292937
NM_013266.1p.T454Pc.1360A>CSubstitution - Missense23292937
MORC2ENSG00000133422ENST00000397641p.I497Tc.1490T>CSubstitution - Missense23292937
TSC2ENSG00000103197ENST00000219476p.A1782Vc.5345C>TSubstitution - Missense23292937
MIB1ENSG00000101752ENST00000261537p.V645Ic.1933G>ASubstitution - Missense23292937
NM_147171.1p.N3615Sc.10844A>GSubstitution - Missense23292937
UNC5DENSG00000156687ENST00000287272p.K359Nc.1077A>CSubstitution - Missense23292937
MTORENSG00000198793ENST00000361445p.N1765Dc.5293A>GSubstitution - Missense23292937
UNC5DENSG00000156687ENST00000404895p.K364Nc.1092A>CSubstitution - Missense23292937
DYNC1H1ENSG00000197102ENST00000360184p.E3755Gc.11264A>GSubstitution - Missense23292937
ACTN1ENSG00000072110ENST00000193403p.F399Cc.1196T>GSubstitution - Missense23292937
FANCD2ENSG00000144554ENST00000419585p.T566Ac.1696A>GSubstitution - Missense23292937
NF1ENSG00000196712ENST00000358273p.M2473Vc.7417A>GSubstitution - Missense23292937
NSD1ENSG00000165671ENST00000439151p.H515Lc.1544A>TSubstitution - Missense23292937
CTNNA3ENSG00000183230ENST00000433211p.T454Pc.1360A>CSubstitution - Missense23292937
TP53ENSG00000141510ENST00000269305p.V216Mc.646G>ASubstitution - Missense23292937
SHMT2ENSG00000182199ENST00000328923p.Y3Hc.7T>CSubstitution - Missense23292937
MAGI1ENSG00000151276ENST00000402939p.D524Gc.1571A>GSubstitution - Missense23292937
CELSR2ENSG00000143126ENST00000271332p.P2677Tc.8029C>ASubstitution - Missense23292937
PPP6R3ENSG00000110075ENST00000393801p.L423Sc.1268T>CSubstitution - Missense23292937
KLBENSG00000134962ENST00000257408p.H303Rc.908A>GSubstitution - Missense23292937
CAPN5ENSG00000149260ENST00000278559p.G267Sc.799G>ASubstitution - Missense23292937
ITGA8ENSG00000077943ENST00000378076p.V168Ac.503T>CSubstitution - Missense23292937
B4GALNT2ENSG00000167080ENST00000300404p.R344*c.1030C>TSubstitution - Nonsense23292937
MAGI1ENSG00000151276ENST00000330909p.D524Gc.1571A>GSubstitution - Missense23292937
XDHENSG00000158125ENST00000379416p.Q680fs*11c.2031_2032delACDeletion - Frameshift23292937
CORO2AENSG00000106789ENST00000343933p.I159Lc.475A>CSubstitution - Missense23292937
PADI1ENSG00000142623ENST00000375471p.H197Rc.590A>GSubstitution - Missense23292937
SPTBN1ENSG00000115306ENST00000356805p.K401Tc.1202A>CSubstitution - Missense23292937
TSC2ENSG00000103197ENST00000219476p.A1782Vc.5345C>TSubstitution - Missense23292937
CCNFENSG00000162063ENST00000397066p.I43Vc.127A>GSubstitution - Missense23292937