Cell Line Synopsis
Cell Line Overview
Mutations
Copy Number Variation
Gene Expression
RNAi
Compound Sensitivity Profile
Similar Cell Lines

TE-6 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1113 mutations reported
403 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
FAF2ENSG00000113194ENST00000261942p.Q305Qc.915G>ASubstitution - coding silent
HLA-DRB1ENSG00000196126ENST00000360004p.D86Nc.256G>ASubstitution - Missense
CACNB2ENSG00000165995ENST00000377319p.T204Ic.611C>TSubstitution - Missense
SERINC5ENSG00000164300ENST00000509193p.T202Mc.605C>TSubstitution - Missense
ENST00000545858p.R155Qc.464G>ASubstitution - Missense
OR56B4ENSG00000180919ENST00000316529p.S236Pc.706T>CSubstitution - Missense
TJP1ENSG00000104067ENST00000346128p.E1665Kc.4993G>ASubstitution - Missense
TRAPPC4ENSG00000196655ENST00000533632p.K11Ec.31A>GSubstitution - Missense
ATP8B2ENSG00000143515ENST00000368489p.Y640Cc.1919A>GSubstitution - Missense
MYBPC2ENSG00000086967ENST00000357701p.S520Sc.1560G>ASubstitution - coding silent
MEP1BENSG00000141434ENST00000269202p.D240Nc.718G>ASubstitution - Missense
CCDC157ENSG00000187860ENST00000338306p.P588Tc.1762C>ASubstitution - Missense
GPR114ENSG00000159618ENST00000340339p.?c.429+5G>CUnknown
MAP3K4ENSG00000085511ENST00000392142p.A1296Dc.3887C>ASubstitution - Missense
ENST00000378682p.L40Vc.118T>GSubstitution - Missense
TGFBIENSG00000120708ENST00000442011p.?c.1907-8C>TUnknown
TERTENSG00000164362ENST00000310581p.E1068Kc.3202G>ASubstitution - Missense
C6orf52ENSG00000137434ENST00000259983p.S116Sc.348A>CSubstitution - coding silent
MTSS1LENSG00000132613ENST00000338779p.T544Tc.1632C>TSubstitution - coding silent
NFAT5ENSG00000102908ENST00000393742p.L395Lc.1185G>TSubstitution - coding silent
ANKLE1ENSG00000160117ENST00000404261p.P513Sc.1537C>TSubstitution - Missense
ENST00000291449p.P473Sc.1417C>TSubstitution - Missense
TLL1ENSG00000038295ENST00000061240p.S530Ic.1589G>TSubstitution - Missense
PROM1ENSG00000007062ENST00000447510p.V236Mc.706G>ASubstitution - Missense
PLCZ1ENSG00000139151ENST00000541695p.H361_S362>Qc.1083_1085delTTCComplex - deletion inframe
AMPHENSG00000078053ENST00000428293p.I257Fc.769A>TSubstitution - Missense
TRPA1ENSG00000104321ENST00000262209p.A420Ac.1260A>TSubstitution - coding silent
PKHD1ENSG00000170927ENST00000371117p.?c.3098-3C>TUnknown
ENST00000298953_v70p.P283Sc.847C>TSubstitution - Missense
YBX1ENSG00000065978ENST00000436427p.P300Sc.898C>TSubstitution - Missense
CLEC16AENSG00000038532ENST00000409552p.G395Ec.1184G>ASubstitution - Missense
HDGFENSG00000143321ENST00000368209p.D115Dc.345C>TSubstitution - coding silent
NRXN1ENSG00000179915ENST00000402717p.D575Dc.1725C>TSubstitution - coding silent
NM_013266.1p.R297*c.889C>TSubstitution - Nonsense
PTPRDENSG00000153707ENST00000397617p.I1198Ic.3594C>ASubstitution - coding silent
GTF3C1ENSG00000077235ENST00000356183p.R1383Rc.4149G>ASubstitution - coding silent
KLHDC1ENSG00000197776ENST00000359332p.K133Ec.397A>GSubstitution - Missense
DMDENSG00000198947ENST00000378677p.L1377Vc.4129T>GSubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.?c.4645-1G>AUnknown
PHF21AENSG00000135365ENST00000323180p.?c.1544-5_1563>22Unknown
KRT18ENSG00000111057ENST00000388835p.S2Sc.6C>TSubstitution - coding silent
E2F7ENSG00000165891ENST00000322886p.I12Ic.36C>ASubstitution - coding silent
NM_005056.1p.A687Tc.2059G>ASubstitution - Missense
PTPRUENSG00000060656ENST00000460170p.E715Vc.2144A>TSubstitution - Missense
CEP164ENSG00000110274ENST00000278935p.D120Gc.359A>GSubstitution - Missense
ZNF439ENSG00000171291ENST00000304030p.W158Cc.474G>TSubstitution - Missense
ZNF69ENSG00000198429ENST00000429654p.C100Rc.298T>CSubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.L1650Lc.4950G>ASubstitution - coding silent
EFCAB5ENSG00000176927ENST00000394835p.C987Cc.2961T>CSubstitution - coding silent
LPCAT2ENSG00000087253ENST00000262134p.S523fs*>22c.1562delCDeletion - Frameshift
RAB11FIP3ENSG00000090565ENST00000262305p.F297Fc.891C>TSubstitution - coding silent
USO1ENSG00000138768ENST00000264904p.R67Hc.200G>ASubstitution - Missense
ZNF665ENSG00000197497ENST00000396424p.D104Dc.312T>CSubstitution - coding silent
ACTG2ENSG00000163017ENST00000345517p.F263Fc.789C>TSubstitution - coding silent
KCNAB1ENSG00000169282ENST00000302490p.A121Ac.363C>TSubstitution - coding silent
DPH7ENSG00000148399ENST00000277540p.S347Fc.1040C>TSubstitution - Missense
TMEM161AENSG00000064545ENST00000162044p.L376Lc.1126T>CSubstitution - coding silent
FOCADENSG00000188352ENST00000380249p.H1161Lc.3482A>TSubstitution - Missense
AMER1ENSG00000184675ENST00000330258p.G447Sc.1339G>ASubstitution - Missense
NRN1ENSG00000124785ENST00000244766p.C31Fc.92G>TSubstitution - Missense
COL5A1ENSG00000130635ENST00000371817p.A1755Tc.5263G>ASubstitution - Missense
LTBP4ENSG00000090006ENST00000308370p.?c.451+2deltUnknown
CCHCR1ENSG00000204536ENST00000396268p.?c.1740-7G>AUnknown
ADAMTSL5ENSG00000185761ENST00000330475p.R432Cc.1294C>TSubstitution - Missense
FGFR2ENSG00000066468ENST00000359354p.G96Gc.288C>TSubstitution - coding silent
TRPA1ENSG00000104321ENST00000262209p.?c.112-8A>TUnknown
HDGFENSG00000143321ENST00000357325p.D122Dc.366C>TSubstitution - coding silent
PLXNA2ENSG00000076356ENST00000367033p.?c.4018-6C>TUnknown
S100A11ENSG00000163191ENST00000271638p.I84Mc.252T>GSubstitution - Missense
MIIPENSG00000116691ENST00000235332p.R29Wc.85C>TSubstitution - Missense
HIST2H3DENSG00000183598ENST00000331491p.S87Tc.260G>CSubstitution - Missense
MLLT10ENSG00000078403ENST00000307729p.P349Lc.1046C>TSubstitution - Missense
ATP6V0A2ENSG00000185344ENST00000330342p.E264Gc.791A>GSubstitution - Missense
CYB5RLENSG00000215883ENST00000419823p.N208Dc.622A>GSubstitution - Missense
CLMNENSG00000165959ENST00000298912p.P786Pc.2358A>TSubstitution - coding silent
PTPLAD1ENSG00000074696ENST00000261875p.I174Vc.520A>GSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.T215Tc.645C>TSubstitution - coding silent
RALYENSG00000125970ENST00000246194p.G238delGc.703_705delGGTDeletion - In frame
ENST00000411702p.R2460Qc.7379G>ASubstitution - Missense
GDF6ENSG00000156466ENST00000287020p.E160Kc.478G>ASubstitution - Missense
PLECENSG00000178209ENST00000354958p.S2451Cc.7352C>GSubstitution - Missense
USO1ENSG00000138768ENST00000538159p.Q575Qc.1725A>GSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.T22749Kc.68246C>ASubstitution - Missense
TPTEENSG00000166157ENST00000298232p.T89Sc.266C>GSubstitution - Missense
CORO7ENSG00000262246ENST00000251166p.A567Dc.1700C>ASubstitution - Missense
USP53ENSG00000145390ENST00000274030p.S171Lc.512C>TSubstitution - Missense
POLKENSG00000122008ENST00000241436p.I128Vc.382A>GSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.L5389Fc.16167G>TSubstitution - Missense
PPP1R26ENSG00000196422ENST00000356818p.P607Sc.1819C>TSubstitution - Missense
MCF2ENSG00000101977ENST00000519895p.Q173Lc.518A>TSubstitution - Missense
C16orf59ENSG00000162062ENST00000361837p.A347Ac.1041G>ASubstitution - coding silent
NLRP14ENSG00000158077ENST00000299481p.V860Ec.2579T>ASubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.G450Sc.1348G>ASubstitution - Missense
WASF3ENSG00000132970ENST00000335327p.G21Ec.62G>ASubstitution - Missense
RPRD2ENSG00000163125ENST00000369068p.P1448Pc.4344G>ASubstitution - coding silent
WDR76ENSG00000092470ENST00000263795p.T307Ic.920C>TSubstitution - Missense
SF1ENSG00000168066ENST00000377390p.P499Pc.1497A>GSubstitution - coding silent
GPR139ENSG00000180269ENST00000570682p.P353Lc.1058C>TSubstitution - Missense
PTPRBENSG00000127329ENST00000261266p.I1579Ic.4737C>ASubstitution - coding silent
PRDX1ENSG00000117450ENST00000319248p.M100Vc.298A>GSubstitution - Missense
CHD5ENSG00000116254ENST00000262450p.L497Lc.1491C>TSubstitution - coding silent
KANK4ENSG00000132854ENST00000371153p.S164Gc.490A>GSubstitution - Missense
RPUSD1ENSG00000007376ENST00000007264p.E263Ec.789G>ASubstitution - coding silent
FLIIENSG00000177731ENST00000327031p.?c.2488-8C>TUnknown
BLMHENSG00000108578ENST00000261714p.P140Sc.418C>TSubstitution - Missense
CCDC180ENSG00000197816ENST00000375202p.D1195Nc.3583G>ASubstitution - Missense
NM_032217.3p.A965Ac.2895G>ASubstitution - coding silent
ECSITENSG00000130159ENST00000270517p.R149Hc.446G>ASubstitution - Missense
C17orf70ENSG00000185504ENST00000327787p.P396Sc.1186C>TSubstitution - Missense
WDR7ENSG00000091157ENST00000254442p.G850Gc.2550T>ASubstitution - coding silent
NM_007332.1p.A420Ac.1260A>TSubstitution - coding silent
SLC7A5ENSG00000103257ENST00000261622p.?c.815+5G>AUnknown
CHRNB3ENSG00000147432ENST00000289957p.H410Yc.1228C>TSubstitution - Missense
CHL1ENSG00000134121ENST00000256509p.M15Lc.43A>TSubstitution - Missense
PLGENSG00000122194ENST00000308192p.E54Kc.160G>ASubstitution - Missense
MCF2L2ENSG00000053524ENST00000328913p.R620Rc.1860C>TSubstitution - coding silent
PTPRDENSG00000153707ENST00000381196p.I1605Ic.4815C>ASubstitution - coding silent
FBXL18ENSG00000155034ENST00000453700p.S726Yc.2177C>ASubstitution - Missense
XM_499251.1p.C168fs*87c.501_501+1insGTAAUnknown
MYO10ENSG00000145555ENST00000274203p.L1481Lc.4441C>TSubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.L2005Hc.6014T>ASubstitution - Missense
KCNMB1ENSG00000145936ENST00000521859p.V38Lc.112G>TSubstitution - Missense
POTEFENSG00000196604ENST00000361163p.A90Dc.269C>ASubstitution - Missense
BBS9ENSG00000122507ENST00000354265p.A65Ac.195C>ASubstitution - coding silent
ABCC10ENSG00000124574ENST00000372530p.P168Sc.502C>TSubstitution - Missense
AMPHENSG00000078053ENST00000356264p.E40Kc.118G>ASubstitution - Missense
PEAR1ENSG00000187800ENST00000338302p.R871Cc.2611C>TSubstitution - Missense
OR52K1ENSG00000196778ENST00000307632p.L214Lc.642C>GSubstitution - coding silent
ENST00000372234p.R308Gc.922C>GSubstitution - Missense
KIAA0226LENSG00000102445ENST00000429979p.L512Rc.1535T>GSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.E4254Ec.12762G>ASubstitution - coding silent
GLYATL2ENSG00000156689ENST00000287275p.P280Pc.840T>CSubstitution - coding silent
COCHENSG00000100473ENST00000216361p.S72Tc.215G>CSubstitution - Missense
XPNPEP1ENSG00000108039ENST00000369680p.?c.619+7G>TUnknown
PADI4ENSG00000159339ENST00000375448p.?c.1630-8T>GUnknown
APOC3ENSG00000110245ENST00000227667p.Q33Qc.99G>ASubstitution - coding silent
LAMC2ENSG00000058085ENST00000264144p.?c.80-8C>TUnknown
AQP4ENSG00000171885ENST00000383168p.T31Sc.91A>TSubstitution - Missense
CADPSENSG00000163618ENST00000283269p.P484Lc.1451C>TSubstitution - Missense
MIS18AENSG00000159055ENST00000290130p.S114Sc.342C>TSubstitution - coding silent
ENST00000424749_v68p.S226Sc.678G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.T22816Kc.68447C>ASubstitution - Missense
ENST00000356127p.S13053Yc.39158C>ASubstitution - Missense
HERC6ENSG00000138642ENST00000273960p.?c.888-4C>GUnknown
HGFENSG00000019991ENST00000222390p.A585Vc.1754C>TSubstitution - Missense
TBC1D9ENSG00000109436ENST00000442267p.C919Rc.2755T>CSubstitution - Missense
TBC1D9ENSG00000109436ENST00000442267p.C919Rc.2755T>CSubstitution - Missense
AGGF1ENSG00000164252ENST00000312916p.K318Nc.954G>CSubstitution - Missense
ACPPENSG00000014257ENST00000351273p.?c.782-10C>AUnknown
STOX2ENSG00000173320ENST00000308497p.?c.392-3_393CAGGT>AGGGUnknown
NM_198255.1p.E1056Kc.3166G>ASubstitution - Missense
PCDHGA3ENSG00000254245ENST00000253812p.N79Nc.237C>TSubstitution - coding silent
RP1L1ENSG00000183638ENST00000382483p.G464Sc.1390G>ASubstitution - Missense
KIAA0947ENSG00000164151ENST00000296564p.P1223Lc.3668C>TSubstitution - Missense
CCDC152ENSG00000198865ENST00000361970p.I124Ic.372C>TSubstitution - coding silent
PF4ENSG00000163737ENST00000296029p.G79Gc.237A>GSubstitution - coding silent
UBN2ENSG00000157741ENST00000288561p.L142Ic.424T>ASubstitution - Missense
EPHB6ENSG00000106123ENST00000392957p.G848Gc.2544G>ASubstitution - coding silent
LIMK2ENSG00000182541ENST00000340552p.S501Nc.1502G>ASubstitution - Missense
PRSS36ENSG00000178226ENST00000268281p.F845Vc.2533T>GSubstitution - Missense
EPHA6ENSG00000080224ENST00000502694p.A67Vc.200C>TSubstitution - Missense
C16orf11ENSG00000161992ENST00000409413p.P192Pc.576G>ASubstitution - coding silent
ZNF668ENSG00000167394ENST00000394983p.S404Sc.1212G>ASubstitution - coding silent
C1QTNF7ENSG00000163145ENST00000429690p.G59Sc.175G>ASubstitution - Missense
SYNCRIPENSG00000135316ENST00000369622p.Q104Qc.312G>ASubstitution - coding silent
PTPRDENSG00000153707ENST00000355233p.I1199Ic.3597C>ASubstitution - coding silent
ENST00000400460p.T24Mc.71C>TSubstitution - Missense
CYP2B6ENSG00000197408ENST00000324071p.Y380Hc.1138T>CSubstitution - Missense
FGFR3ENSG00000068078ENST00000440486p.G561Sc.1681G>ASubstitution - Missense
ITGB3BPENSG00000142856ENST00000371092p.E116Kc.346G>ASubstitution - Missense
APBB1ENSG00000166313ENST00000389906p.H17Hc.51C>TSubstitution - coding silent
GFPT1ENSG00000198380ENST00000357308p.V480Fc.1438G>TSubstitution - Missense
PLECENSG00000178209ENST00000354589p.S2473Cc.7418C>GSubstitution - Missense
ATRXENSG00000085224ENST00000373341p.S45Lc.134C>TSubstitution - Missense
ARHGAP6ENSG00000047648ENST00000534860p.S569Sc.1707C>TSubstitution - coding silent
DMTF1ENSG00000135164ENST00000394703p.R446Cc.1336C>TSubstitution - Missense
MYCBP2ENSG00000005810ENST00000357337p.E1744Qc.5230G>CSubstitution - Missense
ENST00000446175_v65p.R119Qc.356G>ASubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.A203Pc.607G>CSubstitution - Missense
GOLGA8MENSG00000188626ENST00000563027p.S553Fc.1658C>TSubstitution - Missense
SLC8A3ENSG00000100678ENST00000381269p.S69Ac.205T>GSubstitution - Missense
CARD16ENSG00000204397ENST00000375704p.L29*c.86T>GSubstitution - Nonsense
PRG4ENSG00000116690ENST00000445192p.P448Rc.1343C>GSubstitution - Missense
ABCC6ENSG00000091262ENST00000205557p.L1410Lc.4230G>CSubstitution - coding silent
CNTN2ENSG00000184144ENST00000331830p.S45Nc.134G>ASubstitution - Missense
INO80ENSG00000128908ENST00000361937p.F1009Sc.3026T>CSubstitution - Missense
NRDE2ENSG00000119720ENST00000354366p.D607Hc.1819G>CSubstitution - Missense
DEPDC1ENSG00000024526ENST00000456315p.V97Ac.290T>CSubstitution - Missense
KCNA7ENSG00000104848ENST00000221444p.R293Lc.878G>TSubstitution - Missense
NM_002200.3p.D58Dc.174C>TSubstitution - coding silent
PLECENSG00000178209ENST00000345136p.S2473Cc.7418C>GSubstitution - Missense
ENST00000292562_v68p.A151Ac.453C>TSubstitution - coding silent
DNAH1ENSG00000114841ENST00000420323p.E3190Kc.9568G>ASubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.F1803Lc.5407T>CSubstitution - Missense
CDK15ENSG00000138395ENST00000410091p.S24Rc.72T>GSubstitution - Missense
EVX2ENSG00000174279ENST00000308618p.S94Ac.280T>GSubstitution - Missense
NFE2L2ENSG00000116044ENST00000397062p.F71_D77delFAQLQLDc.211_231del21Deletion - In frame
SCN5AENSG00000183873ENST00000333535p.N598Hc.1792A>CSubstitution - Missense
GRIA2ENSG00000120251ENST00000264426p.R681Wc.2041A>TSubstitution - Missense
ZNF302ENSG00000089335ENST00000505242p.P396Sc.1186C>TSubstitution - Missense
DDCENSG00000132437ENST00000380984p.G258Sc.772G>ASubstitution - Missense
RBCK1ENSG00000125826ENST00000353660p.R272Hc.815G>ASubstitution - Missense
SCN2AENSG00000136531ENST00000375427p.S1958*c.5873C>GSubstitution - Nonsense
SPDL1ENSG00000040275ENST00000265295p.?c.1671-1delgUnknown
HK3ENSG00000160883ENST00000292432p.T895Tc.2685G>ASubstitution - coding silent
PSEN2ENSG00000143801ENST00000391872p.?c.241-7C>GUnknown
GPATCH4ENSG00000160818ENST00000438976p.G295Ec.884G>ASubstitution - Missense
DDR1ENSG00000204580ENST00000361741p.P105Pc.315G>ASubstitution - coding silent
CFHENSG00000000971ENST00000367429p.Y1058Hc.3172T>CSubstitution - Missense
APBB1ENSG00000166313ENST00000299402p.H17Hc.51C>TSubstitution - coding silent
B4GALNT3ENSG00000139044ENST00000266383p.R844Qc.2531G>ASubstitution - Missense
AQP2ENSG00000167580ENST00000199280p.F146Fc.438C>TSubstitution - coding silent
FBXO44ENSG00000132879ENST00000376770p.C170Cc.510C>TSubstitution - coding silent
DACH1ENSG00000165659ENST00000305425p.L390Vc.1168C>GSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.R248Qc.743G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.R490Wc.1468C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.R556Wc.1666C>TSubstitution - Missense
AVPR1AENSG00000166148ENST00000299178p.?c.971-2A>CUnknown
CCT3ENSG00000163468ENST00000295688p.E82Kc.244G>ASubstitution - Missense
ABCB5ENSG00000004846ENST00000258738p.K561Nc.1683A>TSubstitution - Missense
POTEFENSG00000196604ENST00000409914p.A90Dc.269C>ASubstitution - Missense
CRHBPENSG00000145708ENST00000274368p.C237Sc.709T>ASubstitution - Missense
DSTENSG00000151914ENST00000370769p.D3466Ac.10397A>CSubstitution - Missense
SERINC5ENSG00000164300ENST00000512721p.T202Mc.605C>TSubstitution - Missense
CHL1ENSG00000134121ENST00000256509p.?c.2470+6T>CUnknown
ANXA6ENSG00000197043ENST00000356496p.N519Sc.1556A>GSubstitution - Missense
HIST1H2AMENSG00000233224ENST00000359611p.I63Fc.187A>TSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.P2231Sc.6691C>TSubstitution - Missense
HNRNPABENSG00000197451ENST00000358344p.G324delGc.965_967delGTGDeletion - In frame
WDR46ENSG00000227057ENST00000374617p.T279Ic.836C>TSubstitution - Missense
CTNNA3ENSG00000183230ENST00000545309p.R297*c.889C>TSubstitution - Nonsense
WDR20ENSG00000140153ENST00000454394p.T539Tc.1617T>CSubstitution - coding silent
DENND2AENSG00000146966ENST00000492720p.P624Ac.1870C>GSubstitution - Missense
SU_OBSCN.1p.E4836Ec.14508G>ASubstitution - coding silent
TMTC2ENSG00000179104ENST00000321196p.S196Ac.586T>GSubstitution - Missense
SU_OBSCN.1p.S8319Sc.24957C>TSubstitution - coding silent
OR10G4ENSG00000254737ENST00000320891p.P128Lc.383C>TSubstitution - Missense
ANO9ENSG00000185101ENST00000332826p.C399Cc.1197C>TSubstitution - coding silent
SLCO1B1ENSG00000134538ENST00000256958p.C24*c.72C>ASubstitution - Nonsense
POLEENSG00000177084ENST00000320574p.R1386Wc.4156C>TSubstitution - Missense
VWFENSG00000110799ENST00000261405p.E1389Ec.4167G>ASubstitution - coding silent
IGHMBP2ENSG00000132740ENST00000255078p.R823Cc.2467C>TSubstitution - Missense
TRPM1ENSG00000134160ENST00000397795p.Y701Hc.2101T>CSubstitution - Missense
KIAA1549LENSG00000110427ENST00000321505p.T114Ic.341C>TSubstitution - Missense
C1orf127ENSG00000175262ENST00000377008p.L128Lc.384C>TSubstitution - coding silent
PLA2G2AENSG00000188257ENST00000400520p.V65Ic.193G>ASubstitution - Missense
ZNF341ENSG00000131061ENST00000342427p.T338Tc.1014C>TSubstitution - coding silent
ZNF726ENSG00000213967ENST00000322487p.K276Nc.828G>CSubstitution - Missense
USO1ENSG00000138768ENST00000538159p.R141Hc.422G>ASubstitution - Missense
PIEZO2ENSG00000154864ENST00000302079p.I284Tc.851T>CSubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.P2019Qc.6056C>ASubstitution - Missense
IMPG2ENSG00000081148ENST00000193391p.P65Ac.193C>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.T29121Kc.87362C>ASubstitution - Missense
REM1ENSG00000088320ENST00000201979p.Y117Cc.350A>GSubstitution - Missense
ENST00000405167p.V2489Ic.7465G>ASubstitution - Missense
FUT6ENSG00000156413ENST00000286955p.D293Dc.879C>TSubstitution - coding silent
OBSL1ENSG00000124006ENST00000404537p.G1570Rc.4708G>CSubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.M311Tc.932T>CSubstitution - Missense
SIDT1ENSG00000072858ENST00000264852p.F262Yc.785T>ASubstitution - Missense
DSPENSG00000096696ENST00000379802p.R199Mc.596G>TSubstitution - Missense
EYSENSG00000188107ENST00000370621p.E176delEc.525_527delGGADeletion - In frame
SLC26A6ENSG00000225697ENST00000395550p.?c.1134+7G>TUnknown
DDCENSG00000132437ENST00000357936p.G258Sc.772G>ASubstitution - Missense
ACVR2AENSG00000121989ENST00000241416p.P49Pc.147G>ASubstitution - coding silent
PKN1ENSG00000123143ENST00000342216p.?c.2234+9G>CUnknown
BCRENSG00000186716ENST00000398512p.P168Pc.504C>TSubstitution - coding silent
FAM120BENSG00000112584ENST00000537664p.T274Nc.821C>ASubstitution - Missense
KCNV1ENSG00000164794ENST00000524391p.V355Mc.1063G>ASubstitution - Missense
UBN2ENSG00000157741ENST00000473989p.L225Ic.673T>ASubstitution - Missense
HEPHENSG00000089472ENST00000519389p.S1091Tc.3272G>CSubstitution - Missense
ENST00000426433p.V43Vc.129G>TSubstitution - coding silent
PRDM4ENSG00000110851ENST00000228437p.P389Pc.1167C>GSubstitution - coding silent
CSMD3ENSG00000164796ENST00000297405p.L3481Mc.10441C>ASubstitution - Missense
OATENSG00000065154ENST00000368845p.G51Gc.153T>CSubstitution - coding silent
POLEENSG00000177084ENST00000320574p.R1386Wc.4156C>TSubstitution - Missense
PTPRUENSG00000060656ENST00000345512p.E715Vc.2144A>TSubstitution - Missense
ENST00000334821p.A72fs*32c.214_215insGInsertion - Frameshift
LTBP2ENSG00000119681ENST00000261978p.A258Ac.774C>TSubstitution - coding silent
ENST00000426033p.G2533Sc.7597G>ASubstitution - Missense
KISS1RENSG00000116014ENST00000234371p.A303Vc.908C>TSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.N2016Ic.6047A>TSubstitution - Missense
CLEC18BENSG00000140839ENST00000339953p.C232*c.696T>ASubstitution - Nonsense
ENST00000215591p.?c.3643+6C>TUnknown
LCE1BENSG00000196734ENST00000360090p.G49Rc.145G>ASubstitution - Missense
DZANK1ENSG00000089091ENST00000357236p.?c.24+1G>AUnknown
CADPS2ENSG00000081803ENST00000313070p.V796Vc.2388G>CSubstitution - coding silent
UBOX5ENSG00000185019ENST00000217173p.R301*c.901C>TSubstitution - Nonsense
DDX58ENSG00000107201ENST00000379883p.D122Nc.364G>ASubstitution - Missense
C10orf12ENSG00000155640ENST00000286067p.Q600Kc.1798C>ASubstitution - Missense
TM9SF3ENSG00000077147ENST00000371142p.I134Ic.402A>TSubstitution - coding silent
OR10K2ENSG00000180708ENST00000314902p.F37Sc.110T>CSubstitution - Missense
EPHA8ENSG00000070886ENST00000166244p.R845Qc.2534G>ASubstitution - Missense
OR10G4ENSG00000254737ENST00000320891p.H94Yc.280C>TSubstitution - Missense
EXOC8ENSG00000116903ENST00000360394p.F251Fc.753C>TSubstitution - coding silent
CLSPNENSG00000092853ENST00000251195p.A618Tc.1852G>ASubstitution - Missense
WDR76ENSG00000092470ENST00000263795p.T307Tc.921C>TSubstitution - coding silent
SELLENSG00000188404ENST00000236147p.M1Lc.1A>TSubstitution - Missense
ZNF609ENSG00000180357ENST00000326648p.I1129Vc.3385A>GSubstitution - Missense
ZNF846ENSG00000196605ENST00000397902p.S434Fc.1301C>TSubstitution - Missense
DZANK1ENSG00000089091ENST00000262547p.?c.475+1G>AUnknown
BTBD3ENSG00000132640ENST00000378226p.I66Tc.197T>CSubstitution - Missense
TAOK1ENSG00000160551ENST00000261716p.A787Vc.2360C>TSubstitution - Missense
LOXHD1ENSG00000167210ENST00000398722p.N1635Kc.4905C>GSubstitution - Missense
TECPR1ENSG00000205356ENST00000379795p.L566fs*45c.1697delTDeletion - Frameshift
TTNENSG00000155657ENST00000359218p.S6681Yc.20042C>ASubstitution - Missense
RPL14ENSG00000188846ENST00000396203p.A158_A159delAAc.446_451delCTGCTGDeletion - In frame
ZNF776ENSG00000152443ENST00000317178p.R36Kc.107G>ASubstitution - Missense
TSEN54ENSG00000182173ENST00000333213p.G256Dc.767G>ASubstitution - Missense
ELMO3ENSG00000102890ENST00000393997p.R751Wc.2251C>TSubstitution - Missense
ADAM22ENSG00000008277ENST00000398209p.V701Lc.2101G>TSubstitution - Missense
KDM8ENSG00000155666ENST00000441782p.G338Wc.1012G>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000406316p.D583Dc.1749C>TSubstitution - coding silent
PCDHGA3ENSG00000254245ENST00000253812p.N50Nc.150C>TSubstitution - coding silent
B3GALNT1ENSG00000169255ENST00000392779p.D182Nc.544G>ASubstitution - Missense
MCCD1ENSG00000204511ENST00000376191p.P55Lc.164C>TSubstitution - Missense
DDR1ENSG00000204580ENST00000418800p.P374Pc.1122G>ASubstitution - coding silent
RP1L1ENSG00000183638ENST00000382483p.P1006Lc.3017C>TSubstitution - Missense
LRRC15ENSG00000172061ENST00000439944p.R39Mc.116G>TSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.L2005Hc.6014T>ASubstitution - Missense
DNAH6ENSG00000115423ENST00000398278p.?c.3958-9T>AUnknown
KPNA3ENSG00000102753ENST00000261667p.E451Dc.1353A>TSubstitution - Missense
DACH1ENSG00000165659ENST00000359684p.L442Vc.1324C>GSubstitution - Missense
SLITRK1ENSG00000178235ENST00000377084p.L252Ic.754C>ASubstitution - Missense
RAPSNENSG00000165917ENST00000298854p.A272Sc.814G>TSubstitution - Missense
MADDENSG00000110514ENST00000311027p.S1620Sc.4860C>TSubstitution - coding silent
WDR20ENSG00000140153ENST00000335263p.T508Tc.1524T>CSubstitution - coding silent
ARID2ENSG00000189079ENST00000334344p.P10Tc.28C>ASubstitution - Missense
KDM5AENSG00000073614ENST00000399788p.A687Tc.2059G>ASubstitution - Missense
MCMBPENSG00000197771ENST00000360003p.Y102Yc.306T>CSubstitution - coding silent
HDAC1ENSG00000116478ENST00000373548p.H179Hc.537T>CSubstitution - coding silent
CARD16ENSG00000204397ENST00000375706p.L29*c.86T>GSubstitution - Nonsense
PCDH15ENSG00000150275ENST00000395438p.G1152Gc.3456T>CSubstitution - coding silent
CACNA1CENSG00000151067ENST00000399634p.A1849Ac.5547G>ASubstitution - coding silent
SOS2ENSG00000100485ENST00000216373p.Q365Kc.1093C>ASubstitution - Missense
EML1ENSG00000066629ENST00000334192p.L414Lc.1242C>TSubstitution - coding silent
TMEM92ENSG00000167105ENST00000300433p.S90Nc.269G>ASubstitution - Missense
RPS11ENSG00000142534ENST00000270625p.?c.353+7G>AUnknown
USO1ENSG00000138768ENST00000264904p.Q494Qc.1482A>GSubstitution - coding silent
CEP192ENSG00000101639ENST00000506447p.?c.2068-9C>TUnknown
ZNF778ENSG00000170100ENST00000306502p.P490Pc.1470C>GSubstitution - coding silent
LILRB5ENSG00000105609ENST00000450632p.A40Vc.119C>TSubstitution - Missense
ZNRF4ENSG00000105428ENST00000222033p.Q321Qc.963A>GSubstitution - coding silent
THAP1ENSG00000131931ENST00000254250p.P106Pc.318G>ASubstitution - coding silent
PDE5AENSG00000138735ENST00000354960p.R184Hc.551G>ASubstitution - Missense
GCFC2ENSG00000005436ENST00000321027p.C247fs*12c.729_730ins11Insertion - Frameshift
ZIC4ENSG00000174963ENST00000383075p.?c.688+3C>TUnknown
DNAH11ENSG00000105877ENST00000328843p.P3271Sc.9811C>TSubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.Y980*c.2940C>ASubstitution - Nonsense
ARHGAP6ENSG00000047648ENST00000337414p.S744Sc.2232C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
NM_015057.1p.E1744Qc.5230G>CSubstitution - Missense
SLITRK5ENSG00000165300ENST00000325089p.P170Sc.508C>TSubstitution - Missense
LRRC63ENSG00000173988ENST00000446175p.R119Qc.356G>ASubstitution - Missense
ESPL1ENSG00000135476ENST00000257934p.A201Vc.602C>TSubstitution - Missense
OR56A3ENSG00000184478ENST00000329564p.I165Mc.495C>GSubstitution - Missense
PTPRUENSG00000060656ENST00000460170p.E715Vc.2144A>TSubstitution - Missense
C11orf42ENSG00000180878ENST00000316375p.A73Tc.217G>ASubstitution - Missense
MMP27ENSG00000137675ENST00000260229p.E197Ac.590A>CSubstitution - Missense
IGSF3ENSG00000143061ENST00000369486p.E591*c.1771G>TSubstitution - Nonsense
YBX1ENSG00000065978ENST00000321358p.P250Lc.749C>TSubstitution - Missense
PAX7ENSG00000009709ENST00000375375p.Y495Cc.1484A>GSubstitution - Missense
PDILTENSG00000169340ENST00000302451p.S134Rc.402C>ASubstitution - Missense
SLC44A3ENSG00000143036ENST00000271227p.V79Ec.236T>ASubstitution - Missense
MAP2K5ENSG00000137764ENST00000178640p.W340Cc.1020G>CSubstitution - Missense
C14orf37ENSG00000139971ENST00000267485p.Q512Ec.1534C>GSubstitution - Missense
C20orf173ENSG00000125975ENST00000444723p.G104Vc.311G>TSubstitution - Missense
LINGO2ENSG00000174482ENST00000379992p.P344Tc.1030C>ASubstitution - Missense
SYCP2ENSG00000196074ENST00000357552p.Y1223Yc.3669T>CSubstitution - coding silent
ENST00000428290_v65p.T215Tc.645C>TSubstitution - coding silent
STAC2ENSG00000141750ENST00000333461p.P123Hc.368C>ASubstitution - Missense
BSNENSG00000164061ENST00000296452p.R1644Qc.4931G>ASubstitution - Missense
LIMK2ENSG00000182541ENST00000331728p.S522Nc.1565G>ASubstitution - Missense
ZNF512BENSG00000196700ENST00000369888p.A690Ac.2070G>ASubstitution - coding silent
DMDENSG00000198947ENST00000357033p.L1381Vc.4141T>GSubstitution - Missense
PLEKHA4ENSG00000105559ENST00000263265p.P177Lc.530C>TSubstitution - Missense
NM_001009555.2p.E626Vc.1877A>TSubstitution - Missense
DDR1ENSG00000204580ENST00000324771p.P374Pc.1122G>ASubstitution - coding silent
AMPHENSG00000078053ENST00000428293p.E40Kc.118G>ASubstitution - Missense
FBXL13ENSG00000161040ENST00000436908p.L473Ic.1417C>ASubstitution - Missense
OR5B17ENSG00000197786ENST00000357377p.A67Ec.200C>ASubstitution - Missense
TTC18ENSG00000156042ENST00000355577p.R790Sc.2370A>TSubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.G1157Gc.3471T>CSubstitution - coding silent
KCNT2ENSG00000162687ENST00000294725p.L829Mc.2485T>ASubstitution - Missense
LAG3ENSG00000089692ENST00000203629p.E321Qc.961G>CSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.Q1036Hc.3108G>TSubstitution - Missense
DLGAP5ENSG00000126787ENST00000247191p.G568*c.1702G>TSubstitution - Nonsense
NM_000957.2p.E418Ec.1254A>GSubstitution - coding silent
RBMXL1ENSG00000213516ENST00000321792p.G369Rc.1105G>ASubstitution - Missense
MYL9ENSG00000101335ENST00000279022p.D46Nc.136G>ASubstitution - Missense
XKR3ENSG00000172967ENST00000331428p.K229Kc.687G>ASubstitution - coding silent
PLECENSG00000178209ENST00000436759p.S2500Cc.7499C>GSubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.N644Sc.1931A>GSubstitution - Missense
ZNF418ENSG00000196724ENST00000396147p.P481Pc.1443A>GSubstitution - coding silent
MAP3K4ENSG00000085511ENST00000392142p.A1296Dc.3887C>ASubstitution - Missense
LRIT3ENSG00000183423ENST00000379920p.L86Lc.256C>TSubstitution - coding silent
PCDH18ENSG00000189184ENST00000344876p.?c.2576+2T>AUnknown
USP37ENSG00000135913ENST00000258399p.?c.2299+7T>AUnknown
THOC6ENSG00000131652ENST00000326266p.F341delFc.1020_1022delCTTDeletion - In frame
RAVER1ENSG00000161847ENST00000293677p.L538Lc.1612C>TSubstitution - coding silent
L3MBTL4ENSG00000154655ENST00000400105p.N181Dc.541A>GSubstitution - Missense
TMX3ENSG00000166479ENST00000299608p.Y394Cc.1181A>GSubstitution - Missense
STOX2ENSG00000173320ENST00000308497p.?c.320-3_321CAGGT>AGGGUnknown
CNTNAP1ENSG00000108797ENST00000264638p.R721Wc.2161C>TSubstitution - Missense
DDR1ENSG00000204580ENST00000376575p.P374Pc.1122G>ASubstitution - coding silent
ABCA13ENSG00000179869ENST00000435803p.E4882*c.14644G>TSubstitution - Nonsense
ENST00000319379p.E4827*c.14479G>TSubstitution - Nonsense
CD14ENSG00000170458ENST00000302014p.G294Vc.881G>TSubstitution - Missense
SCN2AENSG00000136531ENST00000375437p.S1958*c.5873C>GSubstitution - Nonsense
BBS9ENSG00000122507ENST00000242067p.A65Ac.195C>ASubstitution - coding silent
AARS2ENSG00000124608ENST00000244571p.R826*c.2476C>TSubstitution - Nonsense
TRIM60ENSG00000176979ENST00000512596p.P132Pc.396T>CSubstitution - coding silent
RPRD2ENSG00000163125ENST00000369068p.P1448Pc.4344G>ASubstitution - coding silent
PACS1ENSG00000175115ENST00000320580p.V499Lc.1495G>TSubstitution - Missense
MKXENSG00000150051ENST00000375790p.G44Gc.132C>TSubstitution - coding silent
SPRR3ENSG00000163209ENST00000295367p.T67Ac.199A>GSubstitution - Missense
NUTM2GENSG00000188152ENST00000372322p.P526Sc.1576C>TSubstitution - Missense
TENM1ENSG00000009694ENST00000371130p.D2154Nc.6460G>ASubstitution - Missense
C20orf173ENSG00000125975ENST00000246199p.G51Vc.152G>TSubstitution - Missense
ENSG00000188474ENST00000339302p.A141Ac.423G>ASubstitution - coding silent
TAOK1ENSG00000160551ENST00000261716p.A787Vc.2360C>TSubstitution - Missense
CPDENSG00000108582ENST00000225719p.Y662Hc.1984T>CSubstitution - Missense
STX8ENSG00000170310ENST00000306357p.A187Tc.559G>ASubstitution - Missense
CYP51A1ENSG00000001630ENST00000003100p.Q279Qc.837G>ASubstitution - coding silent
IQCF2ENSG00000184345ENST00000333127p.I23Tc.68T>CSubstitution - Missense
GEN1ENSG00000178295ENST00000381254p.K25Ec.73A>GSubstitution - Missense
PEG3ENSG00000198300ENST00000326441p.D178Ec.534C>ASubstitution - Missense
C2orf78ENSG00000187833ENST00000409561p.P404Sc.1210C>TSubstitution - Missense
MAP3K4ENSG00000085511ENST00000392142p.S1219Nc.3656G>ASubstitution - Missense
PNPLA7ENSG00000130653ENST00000277531p.E1188Kc.3562G>ASubstitution - Missense
TMEM184BENSG00000198792ENST00000361684p.S23Sc.69C>TSubstitution - coding silent
GNA14ENSG00000156049ENST00000341700p.R162Hc.485G>ASubstitution - Missense
SLFN13ENSG00000154760ENST00000285013p.D703Vc.2108A>TSubstitution - Missense
MCCC1ENSG00000078070ENST00000265594p.R339Wc.1015A>TSubstitution - Missense
NFAT5ENSG00000102908ENST00000432919p.L489Lc.1467G>TSubstitution - coding silent
GRB14ENSG00000115290ENST00000263915p.S362Sc.1086A>GSubstitution - coding silent
ENST00000251268_v61p.P593Lc.1778C>TSubstitution - Missense
ENST00000335106p.L1288Vc.3862C>GSubstitution - Missense
SMG9ENSG00000105771ENST00000270066p.S355Lc.1064C>TSubstitution - Missense
GCFC2ENSG00000005436ENST00000321027p.I243Mc.729A>GSubstitution - Missense
ENST00000204005_v70p.?c.340+2deltUnknown
RGRENSG00000148604ENST00000359452p.?c.643-8C>TUnknown
NFE2ENSG00000123405ENST00000312156p.R168Rc.502C>ASubstitution - coding silent
OSBPL8ENSG00000091039ENST00000261183p.Q310Qc.930G>ASubstitution - coding silent
PHF21AENSG00000135365ENST00000418153p.?c.1682-5_1701>22Unknown
PIK3C2GENSG00000139144ENST00000433979p.L1198Fc.3594G>TSubstitution - Missense
ERCC5ENSG00000134899ENST00000355739p.D379Dc.1137C>TSubstitution - coding silent
SPTBN2ENSG00000173898ENST00000309996p.R524Rc.1570C>ASubstitution - coding silent
PAX6ENSG00000007372ENST00000419022p.S24Fc.71C>TSubstitution - Missense
ATP1A1ENSG00000163399ENST00000295598p.G196delGc.582_584delAGGDeletion - In frame
FAM181BENSG00000182103ENST00000329203p.P383Sc.1147C>TSubstitution - Missense
FLAD1ENSG00000160688ENST00000405236p.R207Hc.620G>ASubstitution - Missense
SLC44A3ENSG00000143036ENST00000467909p.V31Ec.92T>ASubstitution - Missense
ATG14ENSG00000126775ENST00000247178p.C46Cc.138C>TSubstitution - coding silent
DZANK1ENSG00000089091ENST00000262547p.?c.475+1G>AUnknown
ITGB3BPENSG00000142856ENST00000271002p.E77Kc.229G>ASubstitution - Missense
RAI1ENSG00000108557ENST00000353383p.A695Ac.2085T>CSubstitution - coding silent
KIF13BENSG00000197892ENST00000524189p.S308Sc.924A>GSubstitution - coding silent
GDF6ENSG00000156466ENST00000287020p.E165*c.493G>TSubstitution - Nonsense
ANKRD36CENSG00000174501ENST00000420871p.K815Rc.2444A>GSubstitution - Missense
DSG4ENSG00000175065ENST00000359747p.P728Sc.2182C>TSubstitution - Missense
ENST00000356127p.T29119Kc.87356C>ASubstitution - Missense
CPXM1ENSG00000088882ENST00000380605p.R86Cc.256C>TSubstitution - Missense
CTAGE1ENSG00000212710ENST00000391403p.E177Kc.529G>ASubstitution - Missense
ZNF264ENSG00000083844ENST00000263095p.L604fs*>24c.1808delTDeletion - Frameshift
BOD1L1ENSG00000038219ENST00000040738p.I2860Ic.8580A>TSubstitution - coding silent
ATRXENSG00000085224ENST00000373344p.S84Lc.251C>TSubstitution - Missense
AMER1ENSG00000184675ENST00000330258p.I811Ic.2433C>TSubstitution - coding silent
PHF8ENSG00000172943ENST00000338154p.?c.1627-10A>GUnknown
SMARCA5ENSG00000153147ENST00000283131p.R1000Rc.3000A>GSubstitution - coding silent
EPHB1ENSG00000154928ENST00000398015p.T87Tc.261A>CSubstitution - coding silent
SERINC5ENSG00000164300ENST00000507668p.T202Mc.605C>TSubstitution - Missense
ENST00000346816p.I1076Ic.3228C>ASubstitution - coding silent
KCNMB1ENSG00000145936ENST00000274629p.V38Lc.112G>TSubstitution - Missense
APBB1IPENSG00000077420ENST00000356785p.N57Sc.170A>GSubstitution - Missense
C20orf26ENSG00000089101ENST00000389656p.D76Nc.226G>ASubstitution - Missense
KRT10ENSG00000186395ENST00000269576p.G486_H487insYGGGSSGGGc.1444_1445ins27Insertion - In frame
PCNTENSG00000160299ENST00000359568p.L810Lc.2428C>TSubstitution - coding silent
EPG5ENSG00000152223ENST00000282041p.S994Fc.2981C>TSubstitution - Missense
BBXENSG00000114439ENST00000415149p.M210Vc.628A>GSubstitution - Missense
ZNF778ENSG00000170100ENST00000433976p.P532Pc.1596C>GSubstitution - coding silent
ZFPM1ENSG00000179588ENST00000319555p.G120Gc.360G>CSubstitution - coding silent
PEG3ENSG00000198300ENST00000423103p.D178Ec.534C>ASubstitution - Missense
DLEC1ENSG00000008226ENST00000308059p.E904Kc.2710G>ASubstitution - Missense
SPDYE2BENSG00000173678ENST00000436228p.S221Sc.663G>ASubstitution - coding silent
KCNIP4ENSG00000185774ENST00000382152p.?c.62-9A>GUnknown
FAM153CENSG00000204677ENST00000507848p.?c.342-3C>GUnknown
ZNF318ENSG00000171467ENST00000361428p.P1132Lc.3395C>TSubstitution - Missense
MEGF8ENSG00000105429ENST00000251268p.P134Lc.401C>TSubstitution - Missense
ENST00000458043_v65p.S299Fc.896C>TSubstitution - Missense
OR4K13ENSG00000176253ENST00000315693p.L302Lc.906C>ASubstitution - coding silent
PROM1ENSG00000007062ENST00000543373p.V227Mc.679G>ASubstitution - Missense
SLC26A6ENSG00000225697ENST00000383733p.?c.1134+7G>TUnknown
PSEN2ENSG00000143801ENST00000366783p.?c.142-7C>GUnknown
NFATC4ENSG00000100968ENST00000555453p.T13Tc.39T>CSubstitution - coding silent
RNF17ENSG00000132972ENST00000255324p.K976Nc.2928A>CSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.A1874Ac.5622T>GSubstitution - coding silent
MFN2ENSG00000116688ENST00000235329p.?c.709-9T>CUnknown
SCN4BENSG00000177098ENST00000324727p.?c.594-3C>TUnknown
KIAA1549LENSG00000110427ENST00000265654p.T114Ic.341C>TSubstitution - Missense
SPAG17ENSG00000155761ENST00000336338p.M2216Rc.6647T>GSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.?c.3208+3G>AUnknown
MAP2K5ENSG00000137764ENST00000395476p.W340Cc.1020G>CSubstitution - Missense
CALCOCO2ENSG00000136436ENST00000258947p.?c.1145-3C>TUnknown
ADAM7ENSG00000069206ENST00000175238p.Y397*c.1191C>GSubstitution - Nonsense
RNF213ENSG00000173821ENST00000336301p.R484Qc.1451G>ASubstitution - Missense
ENST00000242365_v65p.P636Sc.1906C>TSubstitution - Missense
CDK15ENSG00000138395ENST00000374598p.S75Rc.225T>GSubstitution - Missense
NLRP12ENSG00000142405ENST00000324134p.C413Rc.1237T>CSubstitution - Missense
CBFA2T3ENSG00000129993ENST00000268679p.A158Ac.474C>TSubstitution - coding silent
GCKRENSG00000084734ENST00000264717p.E252Ec.756G>ASubstitution - coding silent
C6orf99ENSG00000203711ENST00000367073p.P85Pc.255G>CSubstitution - coding silent
CSPG5ENSG00000114646ENST00000264723p.S49Tc.146G>CSubstitution - Missense
PHF8ENSG00000172943ENST00000322659p.?c.1627-10A>GUnknown
COMPENSG00000105664ENST00000222271p.N474Dc.1420A>GSubstitution - Missense
PCOLCE2ENSG00000163710ENST00000295992p.P146Lc.437C>TSubstitution - Missense
GPRC6AENSG00000173612ENST00000310357p.T31Tc.93T>ASubstitution - coding silent
HSPB6ENSG00000004776ENST00000004982p.P68Rc.203C>GSubstitution - Missense
MTSS1LENSG00000132613ENST00000338779p.G603Sc.1807G>ASubstitution - Missense
MCF2ENSG00000101977ENST00000370576p.Q113Lc.338A>TSubstitution - Missense
UNC5AENSG00000113763ENST00000329542p.T416Ic.1247C>TSubstitution - Missense
ZFATENSG00000066827ENST00000377838p.G1157Ec.3470G>ASubstitution - Missense
TNCENSG00000041982ENST00000350763p.L148Pc.443T>CSubstitution - Missense
KIAA0226LENSG00000102445ENST00000378797p.L512Rc.1535T>GSubstitution - Missense
SPTBN2ENSG00000173898ENST00000529997p.R524Rc.1570C>ASubstitution - coding silent
DZANK1ENSG00000089091ENST00000329494p.?c.481+1G>AUnknown
IL17RDENSG00000144730ENST00000427856p.E378Ec.1134A>GSubstitution - coding silent
FUT6ENSG00000156413ENST00000592563p.D293Dc.879C>TSubstitution - coding silent
ARHGAP35ENSG00000160007ENST00000404338p.?c.3904+10A>TUnknown
ENST00000317292p.D112Nc.334G>ASubstitution - Missense
ENST00000314583_v70p.N376Tc.1127A>CSubstitution - Missense
GRIN3AENSG00000198785ENST00000361820p.Y873Yc.2619C>TSubstitution - coding silent
PRPF18ENSG00000165630ENST00000378572p.S62Sc.186G>ASubstitution - coding silent
TAS2R50ENSG00000212126ENST00000506868p.R256Qc.767G>ASubstitution - Missense
RLBP1ENSG00000140522ENST00000268125p.R64Qc.191G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.S8449Sc.25347C>TSubstitution - coding silent
OR52K2ENSG00000181963ENST00000325719p.T144Ic.431C>TSubstitution - Missense
IQGAP3ENSG00000183856ENST00000361170p.A253Sc.757G>TSubstitution - Missense
CEP170BENSG00000099814ENST00000414716p.D1272Nc.3814G>ASubstitution - Missense
SDCCAG8ENSG00000054282ENST00000366541p.E6Ac.17A>CSubstitution - Missense
ABCC10ENSG00000124574ENST00000244533p.P125Sc.373C>TSubstitution - Missense
CUL9ENSG00000112659ENST00000252050p.L1339Lc.4017C>TSubstitution - coding silent
PKHD1ENSG00000170927ENST00000340994p.?c.3098-3C>TUnknown
TP53ENSG00000141510ENST00000420246p.R248Qc.743G>ASubstitution - Missense
HCRTR2ENSG00000137252ENST00000370862p.A59Pc.175G>CSubstitution - Missense
RAB11FIP3ENSG00000090565ENST00000457159p.F297Fc.891C>TSubstitution - coding silent
ENST00000263281_v70p.G198Cc.592G>TSubstitution - Missense
FGFR2ENSG00000066468ENST00000369056p.G96Gc.288C>TSubstitution - coding silent
ZNF438ENSG00000183621ENST00000452305p.G10Ac.29G>CSubstitution - Missense
CACNB2ENSG00000165995ENST00000377315p.T249Ic.746C>TSubstitution - Missense
OR5L1ENSG00000186117ENST00000333973p.A203Ac.609C>ASubstitution - coding silent
OR4A15ENSG00000181958ENST00000314706p.I62Ic.186C>ASubstitution - coding silent
ENST00000457912_v65p.V502Vc.1506G>ASubstitution - coding silent
SMTNL1ENSG00000214872ENST00000457912p.V502Vc.1506G>ASubstitution - coding silent
MYO16ENSG00000041515ENST00000251041p.L112Lc.336G>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369351p.R490Wc.1468C>TSubstitution - Missense
TDRD5ENSG00000162782ENST00000444136p.G114*c.340G>TSubstitution - Nonsense
SLAMF6ENSG00000162739ENST00000368057p.P265Hc.794C>ASubstitution - Missense
KCNT2ENSG00000162687ENST00000367431p.L755Mc.2263T>ASubstitution - Missense
ENST00000373484_v70p.R117Qc.350G>ASubstitution - Missense
ITGB3BPENSG00000142856ENST00000283568p.E77Kc.229G>ASubstitution - Missense
ADAMTS7ENSG00000136378ENST00000388820p.T1265Ic.3794C>TSubstitution - Missense
ATP10AENSG00000206190ENST00000356865p.R1068*c.3202C>TSubstitution - Nonsense
RAI1ENSG00000108557ENST00000261641p.A695Ac.2085T>CSubstitution - coding silent
TNK1ENSG00000174292ENST00000570896p.T509Kc.1526C>ASubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.V392Vc.1176G>TSubstitution - coding silent
EPB41L3ENSG00000082397ENST00000544123p.K38Nc.114G>CSubstitution - Missense
MAP2K7ENSG00000076984ENST00000545011p.S170Sc.510C>TSubstitution - coding silent
TSKSENSG00000126467ENST00000358830p.C355Wc.1065C>GSubstitution - Missense
NFATC2ENSG00000101096ENST00000371564p.S808Sc.2424G>ASubstitution - coding silent
GRB14ENSG00000115290ENST00000543549p.S275Sc.825A>GSubstitution - coding silent
ENST00000314583_v70p.A362Pc.1084G>CSubstitution - Missense
ENST00000314583_v70p.N376Hc.1126A>CSubstitution - Missense
SIDT1ENSG00000072858ENST00000393830p.F262Yc.785T>ASubstitution - Missense
CSPG5ENSG00000114646ENST00000383738p.S49Tc.146G>CSubstitution - Missense
LRIT3ENSG00000183423ENST00000594814p.L131Lc.391C>TSubstitution - coding silent
ENST00000266505_v70p.H498_S499>Qc.1494_1496delTTCComplex - deletion inframe
GOLGA8BENSG00000215252ENST00000438958p.?c.1700-2delaUnknown
ENST00000338970_v70p.A158_A159delAAc.446_451delCTGCTGDeletion - In frame
MYO10ENSG00000145555ENST00000513610p.L1481Lc.4441C>TSubstitution - coding silent
UNC5AENSG00000113763ENST00000261961p.T376Ic.1127C>TSubstitution - Missense
ENST00000328843_v70p.P3271Sc.9811C>TSubstitution - Missense
PLECENSG00000178209ENST00000356346p.S2459Cc.7376C>GSubstitution - Missense
ZNF483ENSG00000173258ENST00000358151p.V225Ic.673G>ASubstitution - Missense
PNPLA7ENSG00000130653ENST00000406427p.E1213Kc.3637G>ASubstitution - Missense
C9orf37ENSG00000203993ENST00000371417p.Q87Qc.261G>ASubstitution - coding silent
TENM1ENSG00000009694ENST00000422452p.D2161Nc.6481G>ASubstitution - Missense
PHF8ENSG00000172943ENST00000338946p.?c.1324-10A>GUnknown
WDR26ENSG00000162923ENST00000414423p.A277Vc.830C>TSubstitution - Missense
TASP1ENSG00000089123ENST00000337743p.S394Lc.1181C>TSubstitution - Missense
KLENSG00000133116ENST00000380099p.T686Tc.2058G>ASubstitution - coding silent
NM_053025p.E1066Vc.3197A>TSubstitution - Missense
LYSTENSG00000143669ENST00000389793p.T94Ic.281C>TSubstitution - Missense
FCRL2ENSG00000132704ENST00000469986p.L38Lc.112C>TSubstitution - coding silent
C12orf55ENSG00000188596ENST00000298953p.P283Sc.847C>TSubstitution - Missense
CLSPNENSG00000092853ENST00000318121p.A618Tc.1852G>ASubstitution - Missense
UNKLENSG00000059145ENST00000397462p.?c.1414-5C>TUnknown
PACS1ENSG00000175115ENST00000320580p.R790Rc.2370A>TSubstitution - coding silent
ABCG4ENSG00000172350ENST00000307417p.I524Sc.1571T>GSubstitution - Missense
DICER1ENSG00000100697ENST00000343455p.P623Sc.1867C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S10404Rc.31212C>ASubstitution - Missense
POLRMTENSG00000099821ENST00000588649p.?c.3688+6C>TUnknown
SLC26A11ENSG00000181045ENST00000361193p.?c.986-8C>TUnknown
FAM120BENSG00000112584ENST00000476287p.T251Nc.752C>ASubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.D1206Dc.3618C>TSubstitution - coding silent
PRXENSG00000105227ENST00000324001p.R1070Rc.3210A>TSubstitution - coding silent
CEACAM5ENSG00000105388ENST00000221992p.V180Lc.538G>CSubstitution - Missense
AMPHENSG00000078053ENST00000356264p.I257Fc.769A>TSubstitution - Missense
BMPERENSG00000164619ENST00000297161p.V593Ac.1778T>CSubstitution - Missense
BBS9ENSG00000122507ENST00000242067p.A65Ac.195C>ASubstitution - coding silent
MCF2ENSG00000101977ENST00000370573p.Q113Lc.338A>TSubstitution - Missense
MCF2ENSG00000101977ENST00000370578p.Q258Lc.773A>TSubstitution - Missense
AEBP1ENSG00000106624ENST00000223357p.Y488Yc.1464C>TSubstitution - coding silent
ZNF185ENSG00000147394ENST00000535861p.S501Sc.1503C>TSubstitution - coding silent
NM_007150.1p.S232Sc.696C>TSubstitution - coding silent
DNAJC18ENSG00000170464ENST00000302060p.N177Nc.531C>TSubstitution - coding silent
PCDHA12ENSG00000251664ENST00000398631p.S432Sc.1296G>ASubstitution - coding silent
ANXA6ENSG00000197043ENST00000354546p.N467Sc.1400A>GSubstitution - Missense
WRNIP1ENSG00000124535ENST00000380773p.H344Hc.1032C>TSubstitution - coding silent
GABRG2ENSG00000113327ENST00000356592p.R171Sc.513A>TSubstitution - Missense
OR2J2ENSG00000204700ENST00000377167p.W21Lc.62G>TSubstitution - Missense
BPHLENSG00000137274ENST00000380375p.H13fs*10c.35delCDeletion - Frameshift
CDSNENSG00000204539ENST00000376288p.S150_S151>Cc.447_451AAGCA>CTComplex - deletion inframe
CCHCR1ENSG00000204536ENST00000376266p.?c.1473-7G>AUnknown
HLA-BENSG00000234745ENST00000412585p.S48Tc.142T>ASubstitution - Missense
CFTRENSG00000001626ENST00000003084p.L1279Sc.3836T>CSubstitution - Missense
THSD7AENSG00000005108ENST00000423059p.D445Nc.1333G>ASubstitution - Missense
NPC1L1ENSG00000015520ENST00000289547p.G824Rc.2470G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.E3874Ec.11622G>ASubstitution - coding silent
KMT2CENSG00000055609ENST00000262189p.E3874Ec.11622G>ASubstitution - coding silent
ABCA13ENSG00000179869ENST00000435803p.L876Fc.2628G>TSubstitution - Missense
ENST00000319379p.L821Fc.2463G>TSubstitution - Missense
ENST00000450194p.C1035fs*87c.3102_3102+1insGTAAUnknown
C7orf57ENSG00000164746ENST00000348904p.E293Qc.877G>CSubstitution - Missense
C7orf57ENSG00000164746ENST00000348904p.E293Qc.877G>CSubstitution - Missense
PKD1L1ENSG00000158683ENST00000289672p.A1901Tc.5701G>ASubstitution - Missense
DCAF13ENSG00000164934ENST00000297579p.L363Fc.1087C>TSubstitution - Missense
AP4M1ENSG00000221838ENST00000359593p.?c.1137+10G>CUnknown
PKHD1L1ENSG00000205038ENST00000378402p.P537Lc.1610C>TSubstitution - Missense
ZFPM2ENSG00000169946ENST00000407775p.G600Gc.1800C>GSubstitution - coding silent
AARSENSG00000090861ENST00000261772p.T181Rc.542C>GSubstitution - Missense
ZNF23ENSG00000167377ENST00000357254p.R412Kc.1235G>ASubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.A579Vc.1736C>TSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.Y3364Yc.10092C>TSubstitution - coding silent
PKN1ENSG00000123143ENST00000242783p.?c.2216+9G>CUnknown
ANKLE1ENSG00000160117ENST00000404261p.P513Lc.1538C>TSubstitution - Missense
ENST00000291449p.P473Lc.1418C>TSubstitution - Missense
CPAMD8ENSG00000160111ENST00000291440p.A1282Ac.3846C>TSubstitution - coding silent
MEGF8ENSG00000105429ENST00000334370p.P593Lc.1778C>TSubstitution - Missense
TMEM145ENSG00000167619ENST00000301204p.W116*c.348G>ASubstitution - Nonsense
RBCK1ENSG00000125826ENST00000356286p.R314Hc.941G>ASubstitution - Missense
SULF2ENSG00000196562ENST00000359930p.?c.416-4G>AUnknown
PDE6BENSG00000133256ENST00000255622p.A35Ac.105C>ASubstitution - coding silent
NOM1ENSG00000146909ENST00000275820p.R594Hc.1781G>ASubstitution - Missense
BCRENSG00000186716ENST00000305877p.P168Pc.504C>TSubstitution - coding silent
GGT1ENSG00000100031ENST00000400380p.L213Vc.637C>GSubstitution - Missense
GGT1ENSG00000100031ENST00000400380p.I222Ic.666C>TSubstitution - coding silent
GGT1ENSG00000100031ENST00000400380p.G391Sc.1171G>ASubstitution - Missense
NR6A1ENSG00000148200ENST00000487099p.S199fs*2c.594_595ins49Insertion - Frameshift
ASB6ENSG00000148331ENST00000277458p.D228Nc.682G>ASubstitution - Missense
DVL3ENSG00000161202ENST00000313143p.R157Qc.470G>ASubstitution - Missense
C4orf46ENSG00000205208ENST00000379205p.D24Dc.72C>TSubstitution - coding silent
LRRC15ENSG00000172061ENST00000347624p.R33Mc.98G>TSubstitution - Missense
TLL1ENSG00000038295ENST00000061240p.L3Vc.7T>GSubstitution - Missense
TENM3ENSG00000218336ENST00000511685p.P1199Rc.3596C>GSubstitution - Missense
FGFR3ENSG00000068078ENST00000340107p.G563Sc.1687G>ASubstitution - Missense
HK3ENSG00000160883ENST00000292432p.T895Tc.2685G>ASubstitution - coding silent
RANBP17ENSG00000204764ENST00000523189p.S395Sc.1185A>CSubstitution - coding silent
EFNB1ENSG00000090776ENST00000204961p.R268Wc.802C>TSubstitution - Missense
ARENSG00000169083ENST00000374690p.D733Nc.2197G>ASubstitution - Missense
ENST00000544984p.D543Nc.1627G>ASubstitution - Missense
NM_138737.1p.S1037Tc.3110G>CSubstitution - Missense
BRWD3ENSG00000165288ENST00000373275p.N695Dc.2083A>GSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.S84Lc.251C>TSubstitution - Missense
ENST00000317082p.?c.3904+10A>TUnknown
ENST00000317082_v61p.?c.3904+10A>TUnknown
GIPRENSG00000010310ENST00000263281p.G198Cc.592G>TSubstitution - Missense
GLTSCR2ENSG00000105373ENST00000246802p.I437Vc.1309A>GSubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.M311Tc.932T>CSubstitution - Missense
KDM8ENSG00000155666ENST00000286096p.G300Wc.898G>TSubstitution - Missense
MZT2BENSG00000152082ENST00000281871p.*159Lc.476A>TNonstop extension
POTEFENSG00000196604ENST00000357462p.A90Dc.269C>ASubstitution - Missense
ZNF668ENSG00000167394ENST00000539836p.S427Sc.1281G>ASubstitution - coding silent
NCKAP5ENSG00000176771ENST00000409261p.S1130Sc.3390C>TSubstitution - coding silent
HCLS1ENSG00000180353ENST00000314583p.N376Hc.1126A>CSubstitution - Missense
HCLS1ENSG00000180353ENST00000314583p.N376Tc.1127A>CSubstitution - Missense
IGSF11ENSG00000144847ENST00000393775p.C120Cc.360C>TSubstitution - coding silent
IGSF11ENSG00000144847ENST00000354673p.C119Cc.357C>TSubstitution - coding silent
ACPPENSG00000014257ENST00000336375p.?c.782-10C>AUnknown
EPHB1ENSG00000154928ENST00000398015p.T87Tc.261A>CSubstitution - coding silent
ARHGAP10ENSG00000071205ENST00000336498p.K525Qc.1573A>CSubstitution - Missense
GRIA2ENSG00000120251ENST00000296526p.R681Wc.2041A>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.R1257Qc.3770G>ASubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.R1257Qc.3770G>ASubstitution - Missense
TLR3ENSG00000164342ENST00000296795p.P46Pc.138C>TSubstitution - coding silent
GPR98ENSG00000164199ENST00000405460p.Q2601Ec.7801C>GSubstitution - Missense
FBXO15ENSG00000141665ENST00000419743p.L493Lc.1479G>CSubstitution - coding silent
FBXO15ENSG00000141665ENST00000269500p.L417Lc.1251G>CSubstitution - coding silent
RAVER1ENSG00000161847ENST00000293677p.L521Lc.1561C>TSubstitution - coding silent
ABCA7ENSG00000064687ENST00000263094p.K288Kc.864G>ASubstitution - coding silent
ABCA7ENSG00000064687ENST00000263094p.V462Lc.1384G>CSubstitution - Missense
EP300ENSG00000100393ENST00000263253p.?c.730-10T>CUnknown
AK9ENSG00000155085ENST00000424296p.R1635Hc.4904G>ASubstitution - Missense
ENST00000321784p.R34Hc.101G>ASubstitution - Missense
ZUFSPENSG00000153975ENST00000368576p.N414Sc.1241A>GSubstitution - Missense
EYSENSG00000188107ENST00000342421p.E176delEc.525_527delGGADeletion - In frame
RREB1ENSG00000124782ENST00000379938p.P1001Pc.3003G>TSubstitution - coding silent
RREB1ENSG00000124782ENST00000379933p.P1001Pc.3003G>TSubstitution - coding silent
COL14A1ENSG00000187955ENST00000297848p.E931Dc.2793A>TSubstitution - Missense
ZNF483ENSG00000173258ENST00000309235p.V225Ic.673G>ASubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.C2408*c.7224T>ASubstitution - Nonsense
LAMA2ENSG00000196569ENST00000421865p.T934Tc.2802T>ASubstitution - coding silent
KIAA0408ENSG00000189367ENST00000483725p.A146Tc.436G>ASubstitution - Missense
SYNCRIPENSG00000135316ENST00000355238p.Q104Qc.312G>ASubstitution - coding silent
ENST00000338839p.S250Lc.749C>TSubstitution - Missense
CCL13ENSG00000181374ENST00000225844p.L96Lc.286C>TSubstitution - coding silent
PLEKHH2ENSG00000152527ENST00000282406p.D940Dc.2820C>TSubstitution - coding silent
MRM1ENSG00000129282ENST00000250156p.G314Rc.940G>CSubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.D623Dc.1869C>TSubstitution - coding silent
NRXN1ENSG00000179915ENST00000404971p.D623Dc.1869C>TSubstitution - coding silent
COX6B1ENSG00000126267ENST00000246554p.C40Yc.119G>ASubstitution - Missense
COX6B1ENSG00000126267ENST00000392201p.C57Yc.170G>ASubstitution - Missense
CCDC39ENSG00000145075ENST00000442201p.M368Vc.1102A>GSubstitution - Missense
CCDC39ENSG00000145075ENST00000273654p.M452Vc.1354A>GSubstitution - Missense
CCDC39ENSG00000145075ENST00000442201p.R103Wc.307C>TSubstitution - Missense
CCDC39ENSG00000145075ENST00000273654p.R187Wc.559C>TSubstitution - Missense
NAALADL2ENSG00000177694ENST00000454872p.A500Tc.1498G>ASubstitution - Missense
POU4F3ENSG00000091010ENST00000230732p.E290Kc.868G>ASubstitution - Missense
ADAMTS13ENSG00000160323ENST00000371911p.A291Sc.871G>TSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.I1605Ic.4815C>ASubstitution - coding silent
PTPRDENSG00000153707ENST00000537002p.I1195Ic.3585C>ASubstitution - coding silent
MRPS12ENSG00000128626ENST00000308018p.R44Gc.130C>GSubstitution - Missense
TRMT10AENSG00000145331ENST00000394876p.K151Rc.452A>GSubstitution - Missense
FRAS1ENSG00000138759ENST00000325942p.E1973Ec.5919G>ASubstitution - coding silent
MAOBENSG00000069535ENST00000378069p.R350Gc.1048A>GSubstitution - Missense
ZIM2ENSG00000269699ENST00000221722p.D53Ec.159C>ASubstitution - Missense
ZNF776ENSG00000152443ENST00000317178p.R78Kc.233G>ASubstitution - Missense
NM_003985p.T514Kc.1541C>ASubstitution - Missense
RGPD3ENSG00000153165ENST00000409886p.?c.979-3T>AUnknown
RGPD3ENSG00000153165ENST00000409886p.?c.979-3T>AUnknown
RGPD3ENSG00000153165ENST00000409886p.S1456Sc.4368G>TSubstitution - coding silent
RGPD3ENSG00000153165ENST00000409886p.S1456Sc.4368G>TSubstitution - coding silent
SCN11AENSG00000168356ENST00000302328p.G752Rc.2254G>ASubstitution - Missense
SCN5AENSG00000183873ENST00000413689p.N598Hc.1792A>CSubstitution - Missense
ENST00000333535_v68p.N598Hc.1792A>CSubstitution - Missense
DLEC1ENSG00000008226ENST00000346219p.E904Kc.2710G>ASubstitution - Missense
ULK4ENSG00000168038ENST00000301831p.?c.3492+5G>CUnknown
ULK4ENSG00000168038ENST00000301831p.?c.948+5G>CUnknown
FERENSG00000151422ENST00000281092p.T410Ac.1228A>GSubstitution - Missense
SLC12A7ENSG00000113504ENST00000264930p.V539Vc.1617C>TSubstitution - coding silent
CES3ENSG00000172828ENST00000303334p.A276Tc.826G>ASubstitution - Missense
ENST00000342345p.P394Sc.1180C>TSubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.?c.3958-9T>AUnknown
ZIC4ENSG00000174963ENST00000525172p.?c.838+3C>TUnknown
KCNAB1ENSG00000169282ENST00000490337p.A139Ac.417C>TSubstitution - coding silent
KCNAB1ENSG00000169282ENST00000471742p.A128Ac.384C>TSubstitution - coding silent
EGFENSG00000138798ENST00000265171p.S589Fc.1766C>TSubstitution - Missense
PDE5AENSG00000138735ENST00000264805p.R142Hc.425G>ASubstitution - Missense
CDH6ENSG00000113361ENST00000265071p.E47*c.139G>TSubstitution - Nonsense
SDHAENSG00000073578ENST00000264932p.?c.1664-2A>TUnknown
GRM1ENSG00000152822ENST00000282753p.?c.2661-7T>CUnknown
GRM1ENSG00000152822ENST00000282753p.R1185Qc.3554G>ASubstitution - Missense
C6orf99ENSG00000203711ENST00000367072p.P8Pc.24G>CSubstitution - coding silent
ABCB5ENSG00000004846ENST00000404938p.K1006Nc.3018A>TSubstitution - Missense
MAP3K4ENSG00000085511ENST00000392142p.S1219Nc.3656G>ASubstitution - Missense
TCP1ENSG00000120438ENST00000321394p.K512Kc.1536G>ASubstitution - coding silent
STK31ENSG00000196335ENST00000355870p.K668Qc.2002A>CSubstitution - Missense
TAX1BP1ENSG00000106052ENST00000396319p.G89Gc.267A>GSubstitution - coding silent
HOXA1ENSG00000105991ENST00000343060p.P64_H66delPHHc.191_199delCCCACCACCDeletion - In frame
ADAM22ENSG00000008277ENST00000265727p.V701Lc.2101G>TSubstitution - Missense
ADAM22ENSG00000008277ENST00000265727p.V701Lc.2101G>TSubstitution - Missense
ABCB4ENSG00000005471ENST00000359206p.?c.2212-9C>GUnknown
MPP1ENSG00000130830ENST00000369534p.A136Vc.407C>TSubstitution - Missense
MAGEB2ENSG00000099399ENST00000378988p.L153Lc.459C>TSubstitution - coding silent
MAGEB2ENSG00000099399ENST00000378988p.L153Lc.459C>TSubstitution - coding silent
DMDENSG00000198947ENST00000378677p.L1377Vc.4129T>GSubstitution - Missense
TTLL4ENSG00000135912ENST00000392102p.G39Gc.117C>TSubstitution - coding silent
MYO7BENSG00000169994ENST00000428314p.K1424Mc.4271A>TSubstitution - Missense
ENST00000272666p.Q1433Hc.4299A>TSubstitution - Missense
KCNE4ENSG00000152049ENST00000281830p.E76Kc.226G>ASubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.P2962Pc.8886A>CSubstitution - coding silent
GFPT1ENSG00000198380ENST00000361060p.V462Fc.1384G>TSubstitution - Missense
CELSR1ENSG00000075275ENST00000262738p.T2145Mc.6434C>TSubstitution - Missense
ZNF501ENSG00000186446ENST00000396048p.E243Qc.727G>CSubstitution - Missense
MCCC2ENSG00000131844ENST00000340941p.?c.511+7_511+8insCUnknown
OCLNENSG00000197822ENST00000396442p.C148Cc.444T>CSubstitution - coding silent
POLKENSG00000122008ENST00000241436p.I128Vc.382A>GSubstitution - Missense
POLKENSG00000122008ENST00000515295p.I128Vc.382A>GSubstitution - Missense
RNF8ENSG00000112130ENST00000373479p.T448Mc.1343C>TSubstitution - Missense
UNC5CLENSG00000124602ENST00000373164p.Y313Cc.938A>GSubstitution - Missense
ACTL6BENSG00000077080ENST00000160382p.V345Vc.1035C>ASubstitution - coding silent
FBXO24ENSG00000106336ENST00000427939p.R46Qc.137G>ASubstitution - Missense
RELNENSG00000189056ENST00000343529p.F1313Fc.3939C>TSubstitution - coding silent
VKORC1L1ENSG00000196715ENST00000434382p.I171_H172insIIc.513_514insATTATTInsertion - In frame
PHF8ENSG00000172943ENST00000357988p.?c.1735-10A>GUnknown
NM_152424.1p.G447Sc.1339G>ASubstitution - Missense
ZNF564ENSG00000249709ENST00000339282p.Q297Ec.889C>GSubstitution - Missense
ZNF69ENSG00000198429ENST00000340180p.C86Rc.256T>CSubstitution - Missense
KRTAP10-11ENSG00000243489ENST00000334670p.R246Sc.738G>TSubstitution - Missense
SPATC1LENSG00000160284ENST00000291672p.?c.544+9G>AUnknown
SPATC1LENSG00000160284ENST00000330205p.?c.82+9G>AUnknown
ANKRD36CENSG00000174501ENST00000456556p.K1564Rc.4691A>GSubstitution - Missense
ENST00000420871_v68p.K815Rc.2444A>GSubstitution - Missense
ENST00000265403_v61p.A29Dc.86C>ASubstitution - Missense
UGT2B10ENSG00000109181ENST00000265403p.A29Dc.86C>ASubstitution - Missense
TMPRSS11AENSG00000187054ENST00000334830p.A21Ac.63C>TSubstitution - coding silent
SMR3AENSG00000109208ENST00000226460p.G72Sc.214G>ASubstitution - Missense
FAM47EENSG00000189157ENST00000424749p.S226Sc.678G>ASubstitution - coding silent
FAM47EENSG00000189157ENST00000339906p.S128Sc.384G>ASubstitution - coding silent
KRT10ENSG00000186395ENST00000269576p.S97_I101>GSc.289_331>34Complex - deletion inframe
ENST00000315574p.C706Fc.2117G>TSubstitution - Missense
ATP10DENSG00000145246ENST00000273859p.R451Qc.1352G>ASubstitution - Missense
ENST00000273600p.E3254Kc.9760G>ASubstitution - Missense
HIST1H3GENSG00000256018ENST00000305910p.A26Gc.77C>GSubstitution - Missense
KIAA1549ENSG00000122778ENST00000422774p.P686Sc.2056C>TSubstitution - Missense
DENND2AENSG00000146966ENST00000275884p.P624Ac.1870C>GSubstitution - Missense
LRRD1ENSG00000240720ENST00000458448p.L538Lc.1614G>TSubstitution - coding silent
DYNC1I1ENSG00000158560ENST00000324972p.I21Ic.63A>TSubstitution - coding silent
PLECENSG00000178209ENST00000322810p.S2610Cc.7829C>GSubstitution - Missense
ZNF251ENSG00000198169ENST00000292562p.A108Ac.324C>TSubstitution - coding silent
PRDM14ENSG00000147596ENST00000276594p.S237Pc.709T>CSubstitution - Missense
NAT1ENSG00000171428ENST00000545197p.L301Fc.901C>TSubstitution - Missense
NAT1ENSG00000171428ENST00000307719p.L239Fc.715C>TSubstitution - Missense
NM_007332.1p.?c.112-8A>TUnknown
LOXHD1ENSG00000167210ENST00000536736p.N1851Kc.5553C>GSubstitution - Missense
EPB41L3ENSG00000082397ENST00000341928p.K38Nc.114G>CSubstitution - Missense
CCDC68ENSG00000166510ENST00000337363p.K184Kc.552A>GSubstitution - coding silent
CTAGE1ENSG00000212710ENST00000391403p.E177Kc.529G>ASubstitution - Missense
MIB1ENSG00000101752ENST00000261537p.?c.401+8G>AUnknown
ANKRD30BENSG00000180777ENST00000358984p.L1101Vc.3301C>GSubstitution - Missense
CEP192ENSG00000101639ENST00000325971p.?c.280-9C>TUnknown
CST5ENSG00000170367ENST00000304710p.F121Lc.363C>ASubstitution - Missense
POTEHENSG00000198062ENST00000343518p.P168Lc.503C>TSubstitution - Missense
NM_003319p.T22624Kc.67871C>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.S13053Yc.39158C>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.S6748Yc.20243C>ASubstitution - Missense
NM_003319p.S6556Yc.19667C>ASubstitution - Missense
ALS2CR11ENSG00000155754ENST00000439140p.Y519Dc.1555T>GSubstitution - Missense
ALS2CR11ENSG00000155754ENST00000286195p.Y519Dc.1555T>GSubstitution - Missense
BBXENSG00000114439ENST00000325805p.M210Vc.628A>GSubstitution - Missense
FANCD2ENSG00000144554ENST00000287647p.I200Ic.600C>TSubstitution - coding silent
FANCD2ENSG00000144554ENST00000419585p.I200Ic.600C>TSubstitution - coding silent
ENST00000329373p.A254Ec.761C>ASubstitution - Missense
ENST00000570743p.R1434Wc.4300C>TSubstitution - Missense
MYH13ENSG00000006788ENST00000252172p.R1434Wc.4300C>TSubstitution - Missense
ZNF175ENSG00000105497ENST00000262259p.W41fs*21c.120_121insGInsertion - Frameshift
NLRP12ENSG00000142405ENST00000345770p.C413Rc.1237T>CSubstitution - Missense
ZNF665ENSG00000197497ENST00000396424p.D39Dc.117T>CSubstitution - coding silent
LILRB5ENSG00000105609ENST00000316219p.A40Vc.119C>TSubstitution - Missense
TMC4ENSG00000167608ENST00000301187p.P402Lc.1205C>TSubstitution - Missense
TPTEENSG00000166157ENST00000361285p.T107Sc.320C>GSubstitution - Missense
CCDC157ENSG00000187860ENST00000405659p.P639Tc.1915C>ASubstitution - Missense
WDR43ENSG00000163811ENST00000296126p.P373Pc.1119A>TSubstitution - coding silent
NM_206943.1p.P780Pc.2340A>CSubstitution - coding silent
LTBP1ENSG00000049323ENST00000407925p.P454Pc.1362A>CSubstitution - coding silent
SLC30A6ENSG00000152683ENST00000282587p.G293Vc.878G>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.V2489Ic.7465G>ASubstitution - Missense
TFRCENSG00000072274ENST00000360110p.L303Lc.907C>TSubstitution - coding silent
EPHA6ENSG00000080224ENST00000389672p.A675Vc.2024C>TSubstitution - Missense
SU_EPHA6p.A581Vc.1742C>TSubstitution - Missense
THBS1ENSG00000137801ENST00000260356p.V186Ic.556G>ASubstitution - Missense
MEIS2ENSG00000134138ENST00000424352p.?c.1148-4C>AUnknown
GOLGA8BENSG00000215252ENST00000267731p.?c.1610-2delaUnknown
ENST00000267731_v68p.?c.1610-2delaUnknown
INO80ENSG00000128908ENST00000361937p.F1009Sc.3026T>CSubstitution - Missense
EGFLAMENSG00000164318ENST00000354891p.R235Lc.704G>TSubstitution - Missense
EGFLAMENSG00000164318ENST00000322350p.R235Lc.704G>TSubstitution - Missense
C7ENSG00000112936ENST00000313164p.G497Vc.1490G>TSubstitution - Missense
USP10ENSG00000103194ENST00000219473p.I113Ic.339C>TSubstitution - coding silent
ZNF846ENSG00000196605ENST00000397902p.R461Hc.1382G>ASubstitution - Missense
ZNF317ENSG00000130803ENST00000247956p.S575Nc.1724G>ASubstitution - Missense
C20orf26ENSG00000089101ENST00000245957p.D720Nc.2158G>ASubstitution - Missense
DZANK1ENSG00000089091ENST00000377630p.?c.24+1G>AUnknown
DUSP19ENSG00000162999ENST00000354221p.V66Ac.197T>CSubstitution - Missense
CCDC160ENSG00000203952ENST00000517294p.L285fs*27c.854delTDeletion - Frameshift
ENST00000429478p.H398Hc.1194T>CSubstitution - coding silent
GPR108ENSG00000125734ENST00000264080p.Q519Hc.1557A>TSubstitution - Missense
CRB3ENSG00000130545ENST00000598494p.P107Ac.319C>GSubstitution - Missense
MAP2K7ENSG00000076984ENST00000397979p.S128Sc.384C>TSubstitution - coding silent
ENST00000331986p.S6037Rc.18111C>ASubstitution - Missense
OR2Z1ENSG00000181733ENST00000324060p.V134Lc.400G>TSubstitution - Missense
MYO1FENSG00000142347ENST00000338257p.S166Sc.498C>TSubstitution - coding silent
H2BFWTENSG00000123569ENST00000217926p.L2Lc.4C>TSubstitution - coding silent
ENST00000300671p.V392Vc.1176G>TSubstitution - coding silent
ZNF208ENSG00000160321ENST00000397126p.T215Tc.645C>TSubstitution - coding silent
TMPRSS9ENSG00000178297ENST00000332578p.R526Qc.1577G>ASubstitution - Missense
ENST00000456956p.Y117Hc.349T>CSubstitution - Missense
C20orf112ENSG00000197183ENST00000326071p.Y117Hc.349T>CSubstitution - Missense
TSKSENSG00000126467ENST00000246801p.C555Wc.1665C>GSubstitution - Missense
PRR12ENSG00000126464ENST00000418929p.S1352Nc.4055G>ASubstitution - Missense
ENST00000246798p.S532Nc.1595G>ASubstitution - Missense
KIAA0355ENSG00000166398ENST00000299505p.?c.847-4C>AUnknown
NR1H2ENSG00000131408ENST00000253727p.?c.748-3C>GUnknown
NR1H2ENSG00000131408ENST00000253727p.?c.1027+3A>GUnknown
GSSENSG00000100983ENST00000216951p.T100Tc.300C>TSubstitution - coding silent
NFATC2ENSG00000101096ENST00000396009p.S808Sc.2424G>ASubstitution - coding silent
CDH26ENSG00000124215ENST00000348616p.N359fs*24c.1077_1080delTGAGDeletion - Frameshift
CDH26ENSG00000124215ENST00000244047p.N359fs*24c.1077_1080delTGAGDeletion - Frameshift
RNF148ENSG00000235631ENST00000434824p.A124Tc.370G>ASubstitution - Missense
RNF148ENSG00000235631ENST00000434824p.A124Tc.370G>ASubstitution - Missense
CADPS2ENSG00000081803ENST00000449022p.V799Vc.2397G>CSubstitution - coding silent
NM_002200.3p.G406Ac.1217G>CSubstitution - Missense
LINGO2ENSG00000174482ENST00000379992p.P344Tc.1030C>ASubstitution - Missense
ERMP1ENSG00000099219ENST00000339450p.I183Ic.549C>TSubstitution - coding silent
IL17RDENSG00000144730ENST00000296318p.E402Ec.1206A>GSubstitution - coding silent
IL17RDENSG00000144730ENST00000320057p.E258Ec.774A>GSubstitution - coding silent
CADPSENSG00000163618ENST00000383710p.P484Lc.1451C>TSubstitution - Missense
FEZF2ENSG00000153266ENST00000283268p.A447Ac.1341C>TSubstitution - coding silent
KIF13BENSG00000197892ENST00000524189p.S308Sc.924A>GSubstitution - coding silent
DPYSL2ENSG00000092964ENST00000311151p.G68Rc.202G>ASubstitution - Missense
NECAB1ENSG00000123119ENST00000417640p.I176Sc.527T>GSubstitution - Missense
ENST00000375206p.D1166Nc.3496G>ASubstitution - Missense
MATN2ENSG00000132561ENST00000520016p.C467Yc.1400G>ASubstitution - Missense
MATN2ENSG00000132561ENST00000520016p.C467Yc.1400G>ASubstitution - Missense
NDUFAF6ENSG00000156170ENST00000396124p.A219Ac.657A>CSubstitution - coding silent
PSMC5ENSG00000087191ENST00000310144p.E381Kc.1141G>ASubstitution - Missense
SPECC1ENSG00000128487ENST00000395527p.E230Vc.689A>TSubstitution - Missense
MAPK7ENSG00000166484ENST00000308406p.A445Ac.1335A>GSubstitution - coding silent
SSH2ENSG00000141298ENST00000269033p.V1391Mc.4171G>ASubstitution - Missense
CNTROBENSG00000170037ENST00000380262p.D335Nc.1003G>ASubstitution - Missense
C17orf70ENSG00000185504ENST00000327787p.P245Sc.733C>TSubstitution - Missense
ACTG1ENSG00000184009ENST00000331925p.E270Ec.810A>GSubstitution - coding silent
MEP1BENSG00000141434ENST00000269202p.M239Ic.717G>ASubstitution - Missense
ZNF799ENSG00000196466ENST00000430385p.C80*c.240T>ASubstitution - Nonsense
KIAA1324ENSG00000116299ENST00000369939p.C111Cc.333C>TSubstitution - coding silent
ENST00000377072_v68p.P349Lc.1046C>TSubstitution - Missense
CACNB2ENSG00000165995ENST00000352115p.T273Ic.818C>TSubstitution - Missense
CACNB2ENSG00000165995ENST00000377329p.T243Ic.728C>TSubstitution - Missense
CACNB2ENSG00000165995ENST00000396576p.T242Ic.725C>TSubstitution - Missense
SLC8A3ENSG00000100678ENST00000357887p.S69Ac.205T>GSubstitution - Missense
APBB1IPENSG00000077420ENST00000376236p.N57Sc.170A>GSubstitution - Missense
GPR158ENSG00000151025ENST00000376351p.?c.1405-7C>TUnknown
RBM25ENSG00000119707ENST00000261973p.R323_R329delRERERERc.953_973del21Deletion - In frame
SIPA1L1ENSG00000197555ENST00000555818p.V904Vc.2712G>CSubstitution - coding silent
ANPEPENSG00000166825ENST00000300060p.F685Fc.2055C>TSubstitution - coding silent
ST8SIA2ENSG00000140557ENST00000268164p.?c.549-5G>AUnknown
UNC45AENSG00000140553ENST00000418476p.G247Dc.740G>ASubstitution - Missense
FURINENSG00000140564ENST00000268171p.I454Ic.1362C>TSubstitution - coding silent
ENST00000268271p.V192Ic.574G>ASubstitution - Missense
CLEC16AENSG00000038532ENST00000409790p.G397Ec.1190G>ASubstitution - Missense
UNKLENSG00000059145ENST00000397462p.?c.1414-6C>AUnknown
ENST00000417177p.G1157Gc.3471T>CSubstitution - coding silent
PCDH15ENSG00000150275ENST00000361849p.G1152Gc.3456T>CSubstitution - coding silent
AGAP6ENSG00000204149ENST00000374056p.E501Qc.1501G>CSubstitution - Missense
ANK3ENSG00000151150ENST00000280772p.?c.414+2T>GUnknown
SF1ENSG00000168066ENST00000334944p.P499Pc.1497A>GSubstitution - coding silent
ST3GAL3ENSG00000126091ENST00000361746p.S416Sc.1248C>TSubstitution - coding silent
SZT2ENSG00000198198ENST00000372442p.A1874Ac.5622T>GSubstitution - coding silent
SZT2ENSG00000198198ENST00000562955p.A2716Ac.8148T>GSubstitution - coding silent
HIVEP3ENSG00000127124ENST00000372583p.M1685Vc.5053A>GSubstitution - Missense
PTPN22ENSG00000134242ENST00000359785p.?c.274-1G>CUnknown
IGSF3ENSG00000143061ENST00000369483p.E611*c.1831G>TSubstitution - Nonsense
CPSF3LENSG00000127054ENST00000435064p.S49delSc.146_148delCCTDeletion - In frame
MAP1AENSG00000166963ENST00000300231p.L2233Lc.6699C>ASubstitution - coding silent
SOS2ENSG00000100485ENST00000216373p.Q365Kc.1093C>ASubstitution - Missense
S100A7ENSG00000143556ENST00000368722p.N53Hc.157A>CSubstitution - Missense
S100A7ENSG00000143556ENST00000368722p.T52Ic.155C>TSubstitution - Missense
FLAD1ENSG00000160688ENST00000292180p.R306Hc.917G>ASubstitution - Missense
NAV1ENSG00000134369ENST00000367296p.S377Fc.1130C>TSubstitution - Missense
SLC26A9ENSG00000174502ENST00000367134p.G318Ec.953G>ASubstitution - Missense
SLC26A9ENSG00000174502ENST00000367135p.G318Ec.953G>ASubstitution - Missense
POLR2MENSG00000255529ENST00000299638p.Q204Lc.611A>TSubstitution - Missense
POLR2MENSG00000255529ENST00000380563p.Q204Lc.611A>TSubstitution - Missense
SETD8ENSG00000183955ENST00000330479p.P60Lc.179C>TSubstitution - Missense
LIN28AENSG00000131914ENST00000326279p.R192Gc.574C>GSubstitution - Missense
PGBD2ENSG00000185220ENST00000329291p.G299Gc.897G>ASubstitution - coding silent
PGBD2ENSG00000185220ENST00000355360p.G48Gc.144G>ASubstitution - coding silent
GPR3ENSG00000181773ENST00000374024p.A298Sc.892G>TSubstitution - Missense
RAVER2ENSG00000162437ENST00000371072p.T147Sc.440C>GSubstitution - Missense
CAMTA1ENSG00000171735ENST00000303635p.A730Ac.2190C>TSubstitution - coding silent
TNNI3KENSG00000116783ENST00000326637p.S543Tc.1627T>ASubstitution - Missense
ANKRD13CENSG00000118454ENST00000370944p.E289*c.865G>TSubstitution - Nonsense
DEPDC1ENSG00000024526ENST00000370966p.V97Ac.290T>CSubstitution - Missense
KTN1ENSG00000126777ENST00000416613p.T631Ac.1891A>GSubstitution - Missense
DLGAP5ENSG00000126787ENST00000247191p.M583Ic.1749G>CSubstitution - Missense
NOC2LENSG00000188976ENST00000327044p.S103Fc.308C>TSubstitution - Missense
NOC2LENSG00000188976ENST00000327044p.R450Cc.1348C>TSubstitution - Missense
COL24A1ENSG00000171502ENST00000370571p.K850Nc.2550A>CSubstitution - Missense
PPP1R36ENSG00000165807ENST00000298705p.?c.1083-8T>AUnknown
ZBTB25ENSG00000089775ENST00000394715p.S342Cc.1025C>GSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.Q1036Hc.3108G>TSubstitution - Missense
GALCENSG00000054983ENST00000261304p.F528Fc.1584C>TSubstitution - coding silent
RIN3ENSG00000100599ENST00000216487p.P298Pc.894T>ASubstitution - coding silent
TIPINENSG00000075131ENST00000261881p.N180Ic.539A>TSubstitution - Missense
RBMXL1ENSG00000213516ENST00000321792p.A111Tc.331G>ASubstitution - Missense
WDR25ENSG00000176473ENST00000335290p.T251Ic.752C>TSubstitution - Missense
CLSTN1ENSG00000171603ENST00000377298p.T291Ic.872C>TSubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.L112Lc.336G>ASubstitution - coding silent
AVPR1AENSG00000166148ENST00000299178p.S253Sc.759G>ASubstitution - coding silent
DUSP6ENSG00000139318ENST00000279488p.S200Tc.598T>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.E4966Ec.14898G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.G2898Rc.8692G>CSubstitution - Missense
SU_OBSCN.1p.G2768Rc.8302G>CSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.G2714Rc.8140G>CSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.G2997Rc.8989G>CSubstitution - Missense
PCNXL2ENSG00000135749ENST00000258229p.F1289Fc.3867C>TSubstitution - coding silent
MTRENSG00000116984ENST00000366577p.H867Yc.2599C>TSubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.L1198Fc.3594G>TSubstitution - Missense
PLCZ1ENSG00000139151ENST00000266505p.H498_S499>Qc.1494_1496delTTCComplex - deletion inframe
TROAPENSG00000135451ENST00000257909p.S656Sc.1968C>TSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.P912Lc.2735C>TSubstitution - Missense
ADAMTS7ENSG00000136378ENST00000388820p.G1264Gc.3792C>GSubstitution - coding silent
GAB2ENSG00000033327ENST00000361507p.T294Pc.880A>CSubstitution - Missense
ALG8ENSG00000159063ENST00000299626p.G377Gc.1131G>ASubstitution - coding silent
ACADSBENSG00000196177ENST00000358776p.A367Ac.1101G>ASubstitution - coding silent
ENST00000333815p.R900Wc.2698C>TSubstitution - Missense
ENST00000368526p.R153Wc.457C>TSubstitution - Missense
CEP170BENSG00000099814ENST00000556508p.D1237Nc.3709G>ASubstitution - Missense
CDC42BPBENSG00000198752ENST00000361246p.?c.351+2T>CUnknown
AHNAK2ENSG00000185567ENST00000333244p.R2794Qc.8381G>ASubstitution - Missense
SALL2ENSG00000165821ENST00000327430p.P971Lc.2912C>TSubstitution - Missense
OR6S1ENSG00000181803ENST00000320704p.V311Lc.931G>TSubstitution - Missense
REC8ENSG00000100918ENST00000311457p.Y48Dc.142T>GSubstitution - Missense
SCFD1ENSG00000092108ENST00000458591p.T379Tc.1137C>TSubstitution - coding silent
KDM2AENSG00000173120ENST00000529006p.R568Qc.1703G>ASubstitution - Missense
DCHS1ENSG00000166341ENST00000299441p.A2081Vc.6242C>TSubstitution - Missense
PANK4ENSG00000157881ENST00000378466p.?c.854-10C>TUnknown
PDCD4ENSG00000150593ENST00000280154p.?c.1099-1G>AUnknown
C10orf118ENSG00000165813ENST00000369287p.M760Ic.2280G>ASubstitution - Missense
FGFR2ENSG00000066468ENST00000457416p.G96Gc.288C>TSubstitution - coding silent
FGFR2ENSG00000066468ENST00000358487p.G96Gc.288C>TSubstitution - coding silent
FGFR2ENSG00000066468ENST00000351936p.G96Gc.288C>TSubstitution - coding silent
XPNPEP1ENSG00000108039ENST00000502935p.?c.748+7G>TUnknown
SORCS3ENSG00000156395ENST00000369701p.?c.1901+6G>TUnknown
TAF5ENSG00000148835ENST00000369839p.D521Nc.1561G>ASubstitution - Missense
STAB2ENSG00000136011ENST00000388887p.V658Fc.1972G>TSubstitution - Missense
SLC17A8ENSG00000179520ENST00000323346p.E527Kc.1579G>ASubstitution - Missense
CLEC2BENSG00000110852ENST00000228438p.C87Rc.259T>CSubstitution - Missense
TWF1ENSG00000151239ENST00000395510p.R278Hc.833G>ASubstitution - Missense
KDM5AENSG00000073614ENST00000399788p.S612Lc.1835C>TSubstitution - Missense
NM_005056.1p.S612Lc.1835C>TSubstitution - Missense
WASF3ENSG00000132970ENST00000335327p.G21Rc.61G>ASubstitution - Missense
WASF3ENSG00000132970ENST00000361042p.G21Rc.61G>ASubstitution - Missense
WASF3ENSG00000132970ENST00000361042p.G21Ec.62G>ASubstitution - Missense
ATP8A2ENSG00000132932ENST00000381655p.?c.1783-6T>GUnknown
ENST00000326544p.R358Wc.1072C>TSubstitution - Missense
SYNCENSG00000162520ENST00000409190p.R117Qc.350G>ASubstitution - Missense
ENST00000563027_v68p.S553Fc.1658C>TSubstitution - Missense
ATP10AENSG00000206190ENST00000356865p.L1426Vc.4276C>GSubstitution - Missense
NPAP1ENSG00000185823ENST00000329468p.A776Sc.2326G>TSubstitution - Missense
SLAMF6ENSG00000162739ENST00000368059p.P265Hc.794C>ASubstitution - Missense
SPENENSG00000065526ENST00000375759p.S1534*c.4601C>GSubstitution - Nonsense
ACTL8ENSG00000117148ENST00000375406p.A20Ac.60C>TSubstitution - coding silent
ATN1ENSG00000111676ENST00000396684p.P162Rc.485C>GSubstitution - Missense
ACRBPENSG00000111644ENST00000229243p.P265Pc.795T>ASubstitution - coding silent
PTPRBENSG00000127329ENST00000334414p.I1797Ic.5391C>ASubstitution - coding silent
NM_002837.2p.I1579Ic.4737C>ASubstitution - coding silent
REXO2ENSG00000076043ENST00000265881p.P156Sc.466C>TSubstitution - Missense
RNF214ENSG00000167257ENST00000531452p.L160Lc.480A>GSubstitution - coding silent
LGR4ENSG00000205213ENST00000379214p.T430Tc.1290G>ASubstitution - coding silent
DCDC1ENSG00000170959ENST00000339794p.T373Sc.1117A>TSubstitution - Missense
C1orf127ENSG00000175262ENST00000377004p.L295Lc.885C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
AP3B1ENSG00000132842ENST00000255194p.Q350Qc.1050G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000413465p.R248Qc.743G>ASubstitution - Missense
CDC20ENSG00000117399ENST00000310955p.R481Qc.1442G>ASubstitution - Missense
CTNNA3ENSG00000183230ENST00000433211p.R297*c.889C>TSubstitution - Nonsense
RBP3ENSG00000107618ENST00000224600p.T791Mc.2372C>TSubstitution - Missense
LRRC8BENSG00000197147ENST00000330947p.F160Fc.480C>TSubstitution - coding silent
SCGNENSG00000079689ENST00000377961p.R99Cc.295C>TSubstitution - Missense
ZNF354AENSG00000169131ENST00000335815p.S535Sc.1605A>TSubstitution - coding silent
FPR2ENSG00000171049ENST00000340023p.R238Hc.713G>ASubstitution - Missense
TDRD5ENSG00000162782ENST00000367614p.G114*c.340G>TSubstitution - Nonsense
DCST2ENSG00000163354ENST00000368424p.H309Hc.927C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369354p.R490Wc.1468C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313431p.R653Wc.1957C>TSubstitution - Missense
SQLEENSG00000104549ENST00000265896p.P329Lc.986C>TSubstitution - Missense
MS4A10ENSG00000172689ENST00000308287p.T164Tc.492G>ASubstitution - coding silent
RASGRF1ENSG00000058335ENST00000419573p.V1053Ic.3157G>ASubstitution - Missense
MGAMENSG00000257335ENST00000549489p.R384Hc.1151G>ASubstitution - Missense
MGAMENSG00000257335ENST00000475668p.R384Hc.1151G>ASubstitution - Missense
MGAMENSG00000257335ENST00000549489p.R384Hc.1151G>ASubstitution - Missense
CCDC135ENSG00000159625ENST00000360716p.P433Pc.1299G>ASubstitution - coding silent
GATA3ENSG00000107485ENST00000379328p.A396Tc.1186G>ASubstitution - Missense
CARD11ENSG00000198286ENST00000396946p.E756Kc.2266G>ASubstitution - Missense
CCDC106ENSG00000173581ENST00000308964p.A142Ac.426G>ASubstitution - coding silent
CA1ENSG00000133742ENST00000523953p.L186Fc.556C>TSubstitution - Missense
KRT38ENSG00000171360ENST00000246646p.D216Dc.648T>CSubstitution - coding silent
CSMD3ENSG00000164796ENST00000343508p.L3441Mc.10321C>ASubstitution - Missense
HCLS1ENSG00000180353ENST00000314583p.A362Pc.1084G>CSubstitution - Missense
CR1ENSG00000203710ENST00000367049p.T239Tc.717G>ASubstitution - coding silent
CR1ENSG00000203710ENST00000400960p.T239Tc.717G>ASubstitution - coding silent
ARIH1ENSG00000166233ENST00000379887p.E454Qc.1360G>CSubstitution - Missense
LINGO1ENSG00000169783ENST00000355300p.V571Vc.1713C>TSubstitution - coding silent
KIAA0226LENSG00000102445ENST00000378784p.L445Rc.1334T>GSubstitution - Missense
MYCBP2ENSG00000005810ENST00000407578p.E1782Qc.5344G>CSubstitution - Missense
COL11A1ENSG00000060718ENST00000370096p.?c.4609-1G>AUnknown
S1PR1ENSG00000170989ENST00000305352p.N377Nc.1131C>TSubstitution - coding silent
ANKRD30AENSG00000148513ENST00000361713p.I535Tc.1604T>CSubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.I535Tc.1604T>CSubstitution - Missense
ZNF438ENSG00000183621ENST00000361310p.G20Ac.59G>CSubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.M1405Ic.4215G>ASubstitution - Missense
DNAH14ENSG00000185842ENST00000445597p.M1021Ic.3063G>ASubstitution - Missense
WDR26ENSG00000162923ENST00000295024p.A130Vc.389C>TSubstitution - Missense
MSS51ENSG00000166343ENST00000372912p.H197Rc.590A>GSubstitution - Missense
FAM25AENSG00000188100ENST00000343959p.V28Mc.82G>ASubstitution - Missense
POLR3AENSG00000148606ENST00000372371p.D1096Vc.3287A>TSubstitution - Missense
BTAF1ENSG00000095564ENST00000265990p.L1607Lc.4821A>GSubstitution - coding silent
LIPKENSG00000204021ENST00000404190p.T161Tc.483T>CSubstitution - coding silent
LIPKENSG00000204021ENST00000404190p.T161Tc.483T>CSubstitution - coding silent
NUTM2DENSG00000214562ENST00000381697p.V43Vc.129A>GSubstitution - coding silent
NUTM2DENSG00000214562ENST00000412718p.V43Vc.129A>GSubstitution - coding silent
PDLIM1ENSG00000107438ENST00000329399p.S130Lc.389C>TSubstitution - Missense
CYP2C9ENSG00000138109ENST00000260682p.L449Mc.1345C>ASubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.R499Hc.1496G>ASubstitution - Missense
PLCE1ENSG00000138193ENST00000371375p.R191Hc.572G>ASubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.R499Hc.1496G>ASubstitution - Missense
RRP12ENSG00000052749ENST00000370992p.S429Lc.1286C>TSubstitution - Missense
TECTAENSG00000109927ENST00000392793p.P475Lc.1424C>TSubstitution - Missense
B4GALNT4ENSG00000182272ENST00000329962p.W1026Rc.3076T>CSubstitution - Missense
GPATCH4ENSG00000160818ENST00000368232p.G290Ec.869G>ASubstitution - Missense
IQGAP3ENSG00000183856ENST00000361170p.K938*c.2812A>TSubstitution - Nonsense
HDGFENSG00000143321ENST00000368206p.D138Dc.414C>TSubstitution - coding silent
E2F7ENSG00000165891ENST00000322886p.I12Ic.36C>ASubstitution - coding silent


COSMIC

2 mutations reported
2 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
CDKN2AENSG00000147889ENST00000304494p.0?c.1_471del471Whole gene deletion8093026
NM_021140.1p.0c.1_225del225No detectable mRNA/protein19330029