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CAL-39 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

751 mutations reported
293 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
NUP160ENSG00000030066ENST00000526870p.V46Ac.137T>CSubstitution - Missense
PTPRJENSG00000149177ENST00000418331p.F123Lc.369T>GSubstitution - Missense
MAPK8IP1ENSG00000121653ENST00000241014p.E451Kc.1351G>ASubstitution - Missense
TP53I11ENSG00000175274ENST00000395648p.K53Nc.159G>CSubstitution - Missense
ARHGAP32ENSG00000134909ENST00000310343p.N1038Yc.3112A>TSubstitution - Missense
RBP4ENSG00000138207ENST00000371467p.G190Cc.568G>TSubstitution - Missense
LRIT2ENSG00000204033ENST00000372113p.L81Vc.241T>GSubstitution - Missense
DLG5ENSG00000151208ENST00000372391p.Y990Yc.2970C>TSubstitution - coding silent
FUT11ENSG00000196968ENST00000372841p.P303Pc.909C>ASubstitution - coding silent
ZSWIM8ENSG00000214655ENST00000398706p.R541Rc.1621C>ASubstitution - coding silent
ENST00000412131p.R541Rc.1621C>ASubstitution - coding silent
CELA3BENSG00000219073ENST00000337107p.R28Rc.84C>ASubstitution - coding silent
WNT4ENSG00000162552ENST00000290167p.F169Sc.506T>CSubstitution - Missense
MIA3ENSG00000154305ENST00000344922p.N746Sc.2237A>GSubstitution - Missense
HNRNPFENSG00000169813ENST00000356053p.H37Hc.111T>CSubstitution - coding silent
KIAA1462ENSG00000165757ENST00000375377p.G933Dc.2798G>ASubstitution - Missense
DTX1ENSG00000135144ENST00000257600p.A455Ac.1365C>TSubstitution - coding silent
TBC1D4ENSG00000136111ENST00000377636p.D384Vc.1151A>TSubstitution - Missense
LMO7ENSG00000136153ENST00000465261p.G413Sc.1237G>ASubstitution - Missense
TDRD3ENSG00000083544ENST00000535286p.M333Ic.999G>ASubstitution - Missense
TDRD3ENSG00000083544ENST00000377894p.M240Ic.720G>ASubstitution - Missense
TRIM13ENSG00000204977ENST00000420995p.G378Gc.1134G>ASubstitution - coding silent
FAM194BENSG00000165837ENST00000298738p.L8Fc.24A>TSubstitution - Missense
SEMA7AENSG00000138623ENST00000261918p.Y188Cc.563A>GSubstitution - Missense
CLK3ENSG00000179335ENST00000395066p.E574Qc.1720G>CSubstitution - Missense
OR6C68ENSG00000205327ENST00000548615p.T222Tc.666A>GSubstitution - coding silent
MAP3K12ENSG00000139625ENST00000547035p.?c.446-8G>TUnknown
MAP3K12ENSG00000139625ENST00000267079p.?c.347-8G>TUnknown
FAM71AENSG00000162771ENST00000294829p.A271Gc.812C>GSubstitution - Missense
TATDN3ENSG00000203705ENST00000366974p.A261Ac.783A>GSubstitution - coding silent
CR1LENSG00000197721ENST00000508064p.R325Rc.975A>GSubstitution - coding silent
CLIP2ENSG00000106665ENST00000223398p.S757Lc.2270C>TSubstitution - Missense
DNAH2ENSG00000183914ENST00000389173p.S943Sc.2829C>TSubstitution - coding silent
RNF148ENSG00000235631ENST00000434824p.R225Qc.674G>ASubstitution - Missense
BCKDHBENSG00000083123ENST00000356489p.S339Lc.1016C>TSubstitution - Missense
CNGB1ENSG00000070729ENST00000251102p.R997Cc.2989C>TSubstitution - Missense
TBC1D16ENSG00000167291ENST00000310924p.D761Dc.2283C>TSubstitution - coding silent
FCHSD2ENSG00000137478ENST00000409418p.G446Gc.1338C>TSubstitution - coding silent
GNAO1ENSG00000087258ENST00000262493p.N142Sc.425A>GSubstitution - Missense
HPDENSG00000158104ENST00000289004p.A244Vc.731C>TSubstitution - Missense
SEMA3AENSG00000075213ENST00000265362p.F80Fc.240C>TSubstitution - coding silent
ARHGEF19ENSG00000142632ENST00000270747p.R789*c.2365C>TSubstitution - Nonsense
ENPP1ENSG00000197594ENST00000360971p.T653Mc.1958C>TSubstitution - Missense
NLRP7ENSG00000167634ENST00000328092p.D148Dc.444C>TSubstitution - coding silent
GH1ENSG00000259384ENST00000323322p.A43Tc.127G>ASubstitution - Missense
ENST00000545858p.P58Hc.173C>ASubstitution - Missense
CLIP2ENSG00000106665ENST00000361545p.S722Lc.2165C>TSubstitution - Missense
CLCC1ENSG00000121940ENST00000369971p.P249Rc.746C>GSubstitution - Missense
CLCC1ENSG00000121940ENST00000369970p.P199Rc.596C>GSubstitution - Missense
CELSR2ENSG00000143126ENST00000271332p.T1567Tc.4701C>TSubstitution - coding silent
GSTM3ENSG00000134202ENST00000361066p.Q203Rc.608A>GSubstitution - Missense
NAV2ENSG00000166833ENST00000360655p.P884Pc.2652C>ASubstitution - coding silent
GRIA4ENSG00000152578ENST00000282499p.E413Ec.1239G>ASubstitution - coding silent
GRIA4ENSG00000152578ENST00000393127p.E413Ec.1239G>ASubstitution - coding silent
ATMENSG00000149311ENST00000278616p.L236Lc.708T>GSubstitution - coding silent
BIRC3ENSG00000023445ENST00000263464p.R135Rc.405T>CSubstitution - coding silent
MMP3ENSG00000149968ENST00000299855p.G188Gc.564G>ASubstitution - coding silent
LGR5ENSG00000139292ENST00000266674p.?c.285-5C>GUnknown
PEX5ENSG00000139197ENST00000434354p.Q135Kc.403C>ASubstitution - Missense
RNASELENSG00000135828ENST00000367559p.Q439Qc.1317G>ASubstitution - coding silent
TDRD5ENSG00000162782ENST00000367614p.D629Hc.1885G>CSubstitution - Missense
ENST00000278207p.F24Lc.70T>CSubstitution - Missense
TMCO1ENSG00000143183ENST00000367881p.G34Vc.101G>TSubstitution - Missense
FCRLBENSG00000162746ENST00000367948p.S163Rc.489C>ASubstitution - Missense
SPENENSG00000065526ENST00000375759p.P1624Sc.4870C>TSubstitution - Missense
DLGAP3ENSG00000116544ENST00000373347p.P783Pc.2349C>TSubstitution - coding silent
ENST00000335883p.A388Dc.1163C>ASubstitution - Missense
ADCENSG00000142920ENST00000398167p.L81Mc.241C>ASubstitution - Missense
GTF3AENSG00000122034ENST00000381140p.E97Vc.290A>TSubstitution - Missense
SENP1ENSG00000079387ENST00000448372p.T424Tc.1272A>GSubstitution - coding silent
C12orf4ENSG00000047621ENST00000261250p.R13Tc.38G>CSubstitution - Missense
MUC19ENSG00000205592ENST00000425730p.K539fs*25c.1615delADeletion - Frameshift
CLEC9AENSG00000197992ENST00000355819p.E4*c.10G>TSubstitution - Nonsense
GNPTABENSG00000111670ENST00000299314p.S424Sc.1272C>GSubstitution - coding silent
STAB2ENSG00000136011ENST00000388887p.S2515Sc.7545G>ASubstitution - coding silent
PSDENSG00000059915ENST00000020673p.R48Wc.142C>TSubstitution - Missense
ARL3ENSG00000138175ENST00000260746p.A38Ac.114A>GSubstitution - coding silent
COL17A1ENSG00000065618ENST00000353479p.P892_G894delPPGc.2673_2681delCCCACCAGGDeletion - In frame
STPG1ENSG00000001460ENST00000438866p.S152Nc.455G>ASubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.R1084Kc.3251G>ASubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.G32Ac.95G>CSubstitution - Missense
ENST00000432996p.R823Rc.2469G>TSubstitution - coding silent
C12orf74ENSG00000214215ENST00000397833p.V68Vc.204G>TSubstitution - coding silent
CTTNENSG00000085733ENST00000376561p.E103Kc.307G>ASubstitution - Missense
CTTNENSG00000085733ENST00000301843p.E103Kc.307G>ASubstitution - Missense
TCIRG1ENSG00000110719ENST00000265686p.?c.1306-5C>TUnknown
RIN1ENSG00000174791ENST00000311320p.A688Tc.2062G>ASubstitution - Missense
DPP3ENSG00000254986ENST00000360510p.P210Lc.629C>TSubstitution - Missense
FAM111BENSG00000189057ENST00000343597p.M495Ic.1485G>TSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.S2835Lc.8504C>TSubstitution - Missense
VENTXENSG00000151650ENST00000325980p.E107Gc.320A>GSubstitution - Missense
JAKMIP3ENSG00000188385ENST00000298622p.A592Dc.1775C>ASubstitution - Missense
JAKMIP3ENSG00000188385ENST00000298622p.R595Gc.1783A>GSubstitution - Missense
TTC40ENSG00000171811ENST00000263170p.Q310Hc.930A>CSubstitution - Missense
TTC40ENSG00000171811ENST00000368586p.Q2149Hc.6447A>CSubstitution - Missense
TMBIM6ENSG00000139644ENST00000423828p.A119Ac.357C>TSubstitution - coding silent
TMBIM6ENSG00000139644ENST00000267115p.A61Ac.183C>TSubstitution - coding silent
SLCO1A2ENSG00000084453ENST00000390670p.S40Yc.119C>ASubstitution - Missense
PCNXL2ENSG00000135749ENST00000258229p.K1546*c.4636A>TSubstitution - Nonsense
ENST00000344698_v71p.K198*c.592A>TSubstitution - Nonsense
OBSCNENSG00000154358ENST00000570156p.G3883Gc.11649G>TSubstitution - coding silent
SU_OBSCN.1p.G3753Gc.11259G>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.G3699Gc.11097G>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000359599p.G3982Gc.11946G>TSubstitution - coding silent
ENST00000256007p.E1316Qc.3946G>CSubstitution - Missense
IRAK3ENSG00000090376ENST00000261233p.R47fs*12c.135_136delAGDeletion - Frameshift
KIF5AENSG00000155980ENST00000455537p.R17Qc.50G>ASubstitution - Missense
CYP27B1ENSG00000111012ENST00000228606p.R488Kc.1463G>ASubstitution - Missense
ENST00000368148p.S1527Cc.4580C>GSubstitution - Missense
ACP2ENSG00000134575ENST00000256997p.R330Wc.988C>TSubstitution - Missense
NUP160ENSG00000030066ENST00000378460p.V46Ac.137T>CSubstitution - Missense
ENST00000399211p.E391Kc.1171G>ASubstitution - Missense
ENST00000399211_v68p.E391Kc.1171G>ASubstitution - Missense
HIATL1ENSG00000148110ENST00000375344p.M66Vc.196A>GSubstitution - Missense
TNFSF14ENSG00000125735ENST00000245912p.G157Gc.471C>TSubstitution - coding silent
PTH2RENSG00000144407ENST00000272847p.?c.699+1G>TUnknown
MUC16ENSG00000181143ENST00000397910p.G3797Gc.11391A>GSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.Q1086Kc.3256C>ASubstitution - Missense
KISS1RENSG00000116014ENST00000234371p.?c.739-5C>AUnknown
COL1A1ENSG00000108821ENST00000225964p.R1227Hc.3680G>ASubstitution - Missense
CDC27ENSG00000004897ENST00000531206p.?c.1176_1189-3>11Unknown
CDC27ENSG00000004897ENST00000066544p.?c.1158_1171-3>11Unknown
WWOXENSG00000186153ENST00000566780p.E39Ec.117G>ASubstitution - coding silent
MIPEPENSG00000027001ENST00000382172p.P355Lc.1064C>TSubstitution - Missense
GBP7ENSG00000213512ENST00000294671p.L286Lc.858T>ASubstitution - coding silent
EVI5ENSG00000067208ENST00000370331p.R653Qc.1958G>ASubstitution - Missense
BCAR3ENSG00000137936ENST00000260502p.A196Tc.586G>ASubstitution - Missense
TLE3ENSG00000140332ENST00000558939p.V744Vc.2232C>TSubstitution - coding silent
TLE3ENSG00000140332ENST00000317509p.V744Vc.2232C>TSubstitution - coding silent
PARP16ENSG00000138617ENST00000261888p.R264Qc.791G>ASubstitution - Missense
SERPINA10ENSG00000140093ENST00000393096p.L310Lc.930C>TSubstitution - coding silent
TRIP11ENSG00000100815ENST00000267622p.P1847Tc.5539C>ASubstitution - Missense
SOCS4ENSG00000180008ENST00000395472p.E233Kc.697G>ASubstitution - Missense
ERRFI1ENSG00000116285ENST00000377482p.R245Kc.734G>ASubstitution - Missense
LEPROTENSG00000213625ENST00000371065p.R67Qc.200G>ASubstitution - Missense
C1orf168ENSG00000187889ENST00000343433p.V209Ic.625G>ASubstitution - Missense
OR2AK2ENSG00000187080ENST00000366480p.A121Ac.363C>TSubstitution - coding silent
OR2T33ENSG00000177212ENST00000318021p.M197Tc.590T>CSubstitution - Missense
OR2T3ENSG00000196539ENST00000359594p.S195fs*8c.556_557ins19Insertion - Frameshift
NOTCH2NLENSG00000213240ENST00000362074p.G20Gc.60G>CSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369356p.E1085Ec.3255G>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369354p.E1085Ec.3255G>ASubstitution - coding silent
NM_006312.2p.G2242Ec.6725G>ASubstitution - Missense
TRIM49CENSG00000204449ENST00000432771p.I371Lc.1111A>CSubstitution - Missense
ENST00000298047_v61p.S1023Fc.3068C>TSubstitution - Missense
GCOM1ENSG00000137878ENST00000380561p.C406Cc.1218T>CSubstitution - coding silent
SECISBP2LENSG00000138593ENST00000261847p.R150Pc.449G>CSubstitution - Missense
KAZNENSG00000189337ENST00000376030p.?c.727-4C>AUnknown
CYFIP1ENSG00000068793ENST00000313077p.D1079Nc.3235G>ASubstitution - Missense
SETD3ENSG00000183576ENST00000329331p.A294Tc.880G>ASubstitution - Missense
TTC6ENSG00000139865ENST00000267368p.G249Rc.745G>ASubstitution - Missense
TTC6ENSG00000139865ENST00000553443p.G1615Rc.4843G>ASubstitution - Missense
CLEC14AENSG00000176435ENST00000342213p.P315Pc.945G>ASubstitution - coding silent
KLHL28ENSG00000179454ENST00000396128p.E196Kc.586G>ASubstitution - Missense
SLC12A1ENSG00000074803ENST00000396577p.M188Kc.563T>ASubstitution - Missense
DUOX2ENSG00000140279ENST00000389039p.R154Rc.462G>ASubstitution - coding silent
GATMENSG00000171766ENST00000396659p.?c.675+9C>GUnknown
ZSCAN29ENSG00000140265ENST00000396976p.E489Qc.1465G>CSubstitution - Missense
SPATA21ENSG00000187144ENST00000375577p.R13Gc.37A>GSubstitution - Missense
PLA2G4DENSG00000159337ENST00000290472p.L784Ic.2350C>ASubstitution - Missense
GPA33ENSG00000143167ENST00000367868p.P314Pc.942G>ASubstitution - coding silent
ENSAENSG00000143420ENST00000513281p.?c.45+8A>GUnknown
SYCP1ENSG00000198765ENST00000369518p.T276Nc.827C>ASubstitution - Missense
ZFP69ENSG00000187815ENST00000372706p.F178Fc.534C>TSubstitution - coding silent
SLC22A9ENSG00000149742ENST00000279178p.S322Fc.965C>TSubstitution - Missense
H2AFY2ENSG00000099284ENST00000373255p.N348Nc.1044C>TSubstitution - coding silent
RUFY2ENSG00000204130ENST00000388768p.?c.283+10G>CUnknown
DDX50ENSG00000107625ENST00000373585p.T220Ac.658A>GSubstitution - Missense
BLMENSG00000197299ENST00000355112p.I732Fc.2194A>TSubstitution - Missense
SPTLC2ENSG00000100596ENST00000216484p.P413Pc.1239T>CSubstitution - coding silent
C1QL3ENSG00000165985ENST00000298943p.P168Pc.504G>ASubstitution - coding silent
XM_372608.1p.A419Ac.1257C>TSubstitution - coding silent
TMC5ENSG00000103534ENST00000396229p.I438Tc.1313T>CSubstitution - Missense
AKR7A3ENSG00000162482ENST00000361640p.R331Lc.992G>TSubstitution - Missense
ASPMENSG00000066279ENST00000367409p.I1904Vc.5710A>GSubstitution - Missense
FAM47BENSG00000189132ENST00000329357p.Q496*c.1486C>TSubstitution - Nonsense
INTS12ENSG00000138785ENST00000394735p.K458Rc.1373A>GSubstitution - Missense
ADH7ENSG00000196344ENST00000476959p.P315Lc.944C>TSubstitution - Missense
ADH7ENSG00000196344ENST00000209665p.P307Lc.920C>TSubstitution - Missense
LRCH3ENSG00000186001ENST00000425562p.S565Yc.1694C>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T142Tc.426C>GSubstitution - coding silent
ENST00000405167p.T142Tc.426C>GSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.S2394Fc.7181C>TSubstitution - Missense
ENST00000405167p.G3900Dc.11699G>ASubstitution - Missense
PPP1CBENSG00000213639ENST00000358506p.?c.520+7T>CUnknown
MTMR3ENSG00000100330ENST00000401950p.Q360Kc.1078C>ASubstitution - Missense
NM_000933.2p.?c.166-6C>AUnknown
CACNG8ENSG00000142408ENST00000270458p.T47Tc.141G>ASubstitution - coding silent
SPG7ENSG00000197912ENST00000268704p.*796Wc.2387A>GNonstop extension
CNGA3ENSG00000144191ENST00000272602p.T224Ac.670A>GSubstitution - Missense
MAPRE3ENSG00000084764ENST00000233121p.A129Ac.387G>ASubstitution - coding silent
HADHBENSG00000138029ENST00000317799p.M318Vc.952A>GSubstitution - Missense
WDR35ENSG00000118965ENST00000345530p.A277Tc.829G>ASubstitution - Missense
MTX2ENSG00000128654ENST00000249442p.G146Vc.437G>TSubstitution - Missense
ZDHHC8ENSG00000099904ENST00000405930p.D329Dc.987C>TSubstitution - coding silent
ZDHHC8ENSG00000099904ENST00000334554p.D329Dc.987C>TSubstitution - coding silent
HM13ENSG00000101294ENST00000340852p.V172Ic.514G>ASubstitution - Missense
SPAG11BENSG00000164871ENST00000398462p.R111Sc.333G>CSubstitution - Missense
TONSLENSG00000160949ENST00000409379p.R847Rc.2541G>TSubstitution - coding silent
ENST00000292520p.R688Rc.2064G>TSubstitution - coding silent
NM_014916p.V1318Mc.3952G>ASubstitution - Missense
SMURF1ENSG00000198742ENST00000361125p.Q203*c.607C>TSubstitution - Nonsense
ZSCAN25ENSG00000197037ENST00000394152p.R521Qc.1562G>ASubstitution - Missense
CCDC132ENSG00000004766ENST00000305866p.?c.2463+10C>TUnknown
DNAH1ENSG00000114841ENST00000420323p.T421Mc.1262C>TSubstitution - Missense
ENST00000273600p.T421Mc.1262C>TSubstitution - Missense
GRXCR1ENSG00000215203ENST00000399770p.Y111Hc.331T>CSubstitution - Missense
KRTAP19-1ENSG00000184351ENST00000390689p.G20Gc.60C>TSubstitution - coding silent
MED1ENSG00000125686ENST00000300651p.D1007Dc.3021T>CSubstitution - coding silent
UBN1ENSG00000118900ENST00000396658p.G810Sc.2428G>ASubstitution - Missense
ZNF500ENSG00000103199ENST00000219478p.Q114Qc.342G>ASubstitution - coding silent
ROBO1ENSG00000169855ENST00000464233p.G1095Gc.3285C>ASubstitution - coding silent
ROBO1ENSG00000169855ENST00000464233p.G1095Gc.3285C>ASubstitution - coding silent
ENST00000420871_v68p.?c.2902-6T>CUnknown
KIDINS220ENSG00000134313ENST00000256707p.V857Lc.2569G>CSubstitution - Missense
FAHD2AENSG00000115042ENST00000233379p.L14Lc.42G>ASubstitution - coding silent
COL18A1ENSG00000182871ENST00000355480p.S737Sc.2211C>TSubstitution - coding silent
TFF3ENSG00000160180ENST00000291525p.V84Mc.250G>ASubstitution - Missense
DSC3ENSG00000134762ENST00000360428p.T529Tc.1587T>GSubstitution - coding silent
ENST00000436173p.A1345Ac.4035C>TSubstitution - coding silent
GAAENSG00000171298ENST00000390015p.T848Tc.2544C>ASubstitution - coding silent
TANC2ENSG00000170921ENST00000389520p.P921Ac.2761C>GSubstitution - Missense
ENST00000389520_v65p.P921Ac.2761C>GSubstitution - Missense
ERN1ENSG00000178607ENST00000433197p.V437Mc.1309G>ASubstitution - Missense
DCAF4L2ENSG00000176566ENST00000319675p.F74Cc.221T>GSubstitution - Missense
ADAM7ENSG00000069206ENST00000175238p.C451Fc.1352G>TSubstitution - Missense
ZBTB5ENSG00000168795ENST00000307750p.D428Dc.1284T>CSubstitution - coding silent
LRRC4ENSG00000128594ENST00000249363p.N81Kc.243C>ASubstitution - Missense
VWDEENSG00000146530ENST00000275358p.V839Vc.2517G>ASubstitution - coding silent
VWDEENSG00000146530ENST00000275358p.V98Vc.294G>ASubstitution - coding silent
PTPRZ1ENSG00000106278ENST00000393386p.S789Ic.2366G>TSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.S789Ic.2366G>TSubstitution - Missense
PHF20ENSG00000025293ENST00000374012p.R147Wc.439A>TSubstitution - Missense
PDCD5ENSG00000105185ENST00000221784p.L61Rc.182T>GSubstitution - Missense
RHPN2ENSG00000131941ENST00000254260p.A427Ac.1281C>ASubstitution - coding silent
ENST00000469064p.K238Tc.713A>CSubstitution - Missense
ZNF254ENSG00000213096ENST00000357002p.W445Cc.1335G>TSubstitution - Missense
ENSG00000178404ENST00000322630p.Q516fs*6c.1545_1546insAInsertion - Frameshift
CCDC144AENSG00000170160ENST00000443444p.S90Tc.268T>ASubstitution - Missense
ENST00000369584p.R138Sc.414G>TSubstitution - Missense
ENST00000369574p.K173Kc.519G>ASubstitution - coding silent
COLEC10ENSG00000184374ENST00000332843p.?c.293-3C>TUnknown
REV3LENSG00000009413ENST00000358835p.N2507Dc.7519A>GSubstitution - Missense
AIM1ENSG00000112297ENST00000369066p.D1406Gc.4217A>GSubstitution - Missense
QRSL1ENSG00000130348ENST00000369046p.T332Ic.995C>TSubstitution - Missense
PPANENSG00000130810ENST00000253107p.G395Dc.1184G>ASubstitution - Missense
EIF3DENSG00000100353ENST00000216190p.I9Mc.27C>GSubstitution - Missense
EIF3DENSG00000100353ENST00000432675p.I9Mc.27C>GSubstitution - Missense
CYTH4ENSG00000100055ENST00000248901p.I111Vc.331A>GSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.F458Lc.1374T>ASubstitution - Missense
STIM2ENSG00000109689ENST00000237364p.H534Yc.1600C>TSubstitution - Missense
PPICENSG00000168938ENST00000306442p.T141Tc.423C>GSubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.?c.12103+4G>AUnknown
FAT1ENSG00000083857ENST00000441802p.?c.12103+4G>AUnknown
TFENSG00000091513ENST00000402696p.G383Gc.1149G>CSubstitution - coding silent
GOLGB1ENSG00000173230ENST00000340645p.L1619Lc.4855C>TSubstitution - coding silent
SRCAPENSG00000080603ENST00000262518p.P2918Lc.8753C>TSubstitution - Missense
SETD1AENSG00000099381ENST00000262519p.L690Lc.2070C>TSubstitution - coding silent
ENST00000427965p.L192Pc.575T>CSubstitution - Missense
RASIP1ENSG00000105538ENST00000222145p.R644Qc.1931G>ASubstitution - Missense
RASIP1ENSG00000105538ENST00000222145p.R644Qc.1931G>ASubstitution - Missense
PNMAL1ENSG00000182013ENST00000438932p.P256Pc.768C>TSubstitution - coding silent
RSPH6AENSG00000104941ENST00000221538p.E291Dc.873G>CSubstitution - Missense
VCX3BENSG00000205642ENST00000444481p.M210Vc.628A>GSubstitution - Missense
SPIN4ENSG00000186767ENST00000335144p.P55Ac.163C>GSubstitution - Missense
IFNW1ENSG00000177047ENST00000380229p.A140Pc.418G>CSubstitution - Missense
GTF2IENSG00000077809ENST00000324896p.V633Ic.1897G>ASubstitution - Missense
TBL2ENSG00000106638ENST00000305632p.R361Qc.1082G>ASubstitution - Missense
PRKAR1BENSG00000188191ENST00000360274p.V176Vc.528C>TSubstitution - coding silent
GRID2IPENSG00000215045ENST00000457091p.V430Ic.1288G>ASubstitution - Missense
GLP1RENSG00000112164ENST00000373256p.L244Lc.732C>GSubstitution - coding silent
KCNK5ENSG00000164626ENST00000359534p.I99Tc.296T>CSubstitution - Missense
CMTR1ENSG00000137200ENST00000373451p.?c.133+4C>TUnknown
RAD17ENSG00000152942ENST00000509734p.N450Sc.1349A>GSubstitution - Missense
MAST4ENSG00000069020ENST00000403625p.L462Lc.1386G>ASubstitution - coding silent
NBEAL2ENSG00000160796ENST00000450053p.R2053Cc.6157C>TSubstitution - Missense
TGM4ENSG00000163810ENST00000296125p.P337Pc.1011G>ASubstitution - coding silent
CCR3ENSG00000183625ENST00000357422p.K233Tc.698A>CSubstitution - Missense
TOPAZ1ENSG00000173769ENST00000309765p.S376Tc.1127G>CSubstitution - Missense
TOPAZ1ENSG00000173769ENST00000309765p.S376Tc.1127G>CSubstitution - Missense
CYP2D6ENSG00000100197ENST00000360608p.R269Rc.807A>GSubstitution - coding silent
MCM2ENSG00000073111ENST00000265056p.A603Vc.1808C>TSubstitution - Missense
MBD4ENSG00000129071ENST00000249910p.K234Nc.702G>TSubstitution - Missense
IFT122ENSG00000163913ENST00000296266p.A932Ac.2796C>TSubstitution - coding silent
KALRNENSG00000160145ENST00000360013p.L1687Lc.5061G>TSubstitution - coding silent
USP34ENSG00000115464ENST00000398571p.T1754Tc.5262G>ASubstitution - coding silent
CNKSR2ENSG00000149970ENST00000379510p.I800Vc.2398A>GSubstitution - Missense
PLGENSG00000122194ENST00000308192p.A494Ac.1482G>ASubstitution - coding silent
ARID1BENSG00000049618ENST00000275248p.S439Nc.1316G>ASubstitution - Missense
AKAP12ENSG00000131016ENST00000402676p.Q1040Lc.3119A>TSubstitution - Missense
MAML1ENSG00000161021ENST00000292599p.G124Sc.370G>ASubstitution - Missense
FAM65AENSG00000039523ENST00000379312p.H30Qc.90C>ASubstitution - Missense
FAM65AENSG00000039523ENST00000042381p.E31Ec.93G>ASubstitution - coding silent
CES4AENSG00000172824ENST00000326686p.R242Gc.724C>GSubstitution - Missense
CNGB1ENSG00000070729ENST00000251102p.E371_V372insEc.1086_1087insGAGInsertion - In frame
UNC5CENSG00000182168ENST00000453304p.?c.2136+9C>TUnknown
RABL2BENSG00000079974ENST00000435118p.K36Qc.106A>CSubstitution - Missense
PEG3ENSG00000198300ENST00000326441p.T475Nc.1424C>ASubstitution - Missense
PEG3ENSG00000198300ENST00000423103p.T475Nc.1424C>ASubstitution - Missense
DUXAENSG00000258873ENST00000554048p.K122Tc.365A>CSubstitution - Missense
ZFP28ENSG00000196867ENST00000301318p.E593Dc.1779G>TSubstitution - Missense
TSPYL2ENSG00000184205ENST00000375442p.D178_E179delDEc.517_522delGAGGATDeletion - In frame
SSC5DENSG00000179954ENST00000389623p.T1477Ac.4429A>GSubstitution - Missense
RBP4ENSG00000138207ENST00000371469p.G188Cc.562G>TSubstitution - Missense
RUFY2ENSG00000204130ENST00000399200p.?c.178+10G>CUnknown
FAT3ENSG00000165323ENST00000541502p.S1023Fc.3068C>TSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.V980Vc.2940G>ASubstitution - coding silent
SERPINA9ENSG00000170054ENST00000546329p.T165Tc.495C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.P151Hc.452C>ASubstitution - Missense
ENST00000458336p.Q744Hc.2232G>CSubstitution - Missense
NM_018695.1p.*1372*c.4115A>GSubstitution - coding silent
STK10ENSG00000072786ENST00000176763p.I225Vc.673A>GSubstitution - Missense
HK3ENSG00000160883ENST00000292432p.?c.914+4A>TUnknown
TKTL2ENSG00000151005ENST00000280605p.L591Lc.1771C>TSubstitution - coding silent
FETUBENSG00000090512ENST00000265029p.R75Rc.225G>TSubstitution - coding silent
RTP2ENSG00000198471ENST00000358241p.A84Ac.252G>ASubstitution - coding silent
LEPREL1ENSG00000090530ENST00000319332p.?c.592_633+150del192Unknown
UTS2BENSG00000188958ENST00000340524p.E37Kc.109G>ASubstitution - Missense
CCBL1ENSG00000171097ENST00000302586p.T73Mc.218C>TSubstitution - Missense
NTMT1ENSG00000148335ENST00000372480p.?c.416-5C>TUnknown
RC3H2ENSG00000056586ENST00000423239p.P677Sc.2029C>TSubstitution - Missense
KCNQ3ENSG00000184156ENST00000388996p.T866Nc.2597C>ASubstitution - Missense
SCN1AENSG00000144285ENST00000303395p.F796Fc.2388C>TSubstitution - coding silent
SCN1AENSG00000144285ENST00000375405p.F785Fc.2355C>TSubstitution - coding silent
RAB36ENSG00000100228ENST00000263116p.Q182Rc.545A>GSubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
ENST00000373135_v70p.S605Lc.1814C>TSubstitution - Missense
SGK2ENSG00000101049ENST00000341458p.L328Rc.983T>GSubstitution - Missense
ZNF112ENSG00000062370ENST00000337401p.Q403*c.1207C>TSubstitution - Nonsense
IGSF23ENSG00000216588ENST00000402988p.P15Qc.44C>ASubstitution - Missense
CEACAM3ENSG00000170956ENST00000357396p.N57Sc.170A>GSubstitution - Missense
ERN2ENSG00000134398ENST00000256797p.V280Ic.838G>ASubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.E1309Kc.3925G>ASubstitution - Missense
VPS13BENSG00000132549ENST00000357162p.E1309Kc.3925G>ASubstitution - Missense
FBXL18ENSG00000155034ENST00000453700p.S704Cc.2111C>GSubstitution - Missense
DDCENSG00000132437ENST00000357936p.D329Gc.986A>GSubstitution - Missense
TNRC18ENSG00000182095ENST00000430969p.Q2706Qc.8118G>ASubstitution - coding silent
ENST00000288841p.R1219Kc.3656G>ASubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.N3281Sc.9842A>GSubstitution - Missense
ENST00000319379p.N3226Sc.9677A>GSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.S3938Lc.11813C>TSubstitution - Missense
ZNF783ENSG00000204946ENST00000418158p.P60Sc.178C>TSubstitution - Missense
ZNF746ENSG00000181220ENST00000340622p.G399Gc.1197G>ASubstitution - coding silent
KRBA1ENSG00000133619ENST00000255992p.R296Wc.886C>TSubstitution - Missense
CTTNBP2ENSG00000077063ENST00000160373p.Q418*c.1252C>TSubstitution - Nonsense
HLA-BENSG00000234745ENST00000412585p.Y142*c.426C>ASubstitution - Nonsense
POM121L2ENSG00000158553ENST00000444565p.E157Kc.469G>ASubstitution - Missense
HIST1H2AKENSG00000184348ENST00000330180p.N39Nc.117C>TSubstitution - coding silent
PCDHB7ENSG00000113212ENST00000231137p.A609Sc.1825G>TSubstitution - Missense
ENST00000230993_v65p.L64Pc.191T>CSubstitution - Missense
SLC4A9ENSG00000113073ENST00000230993p.L64Pc.191T>CSubstitution - Missense
SLC35A4ENSG00000176087ENST00000323146p.G238Sc.712G>ASubstitution - Missense
PLXNB3ENSG00000198753ENST00000538966p.?c.2322+4A>GUnknown
POLMENSG00000122678ENST00000242248p.R353Lc.1058G>TSubstitution - Missense
CYP2A13ENSG00000197838ENST00000330436p.N375Kc.1125C>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.V871Vc.2613G>ASubstitution - coding silent
WDR5ENSG00000196363ENST00000358625p.S175Sc.525G>ASubstitution - coding silent
NTNG2ENSG00000196358ENST00000393229p.S78fs*125c.232_730del499Deletion - Frameshift
CELENSG00000170835ENST00000372080p.P729Tc.2185C>ASubstitution - Missense
PCDHGC4ENSG00000242419ENST00000306593p.T56Mc.167C>TSubstitution - Missense
CCDC39ENSG00000145075ENST00000442201p.E49Kc.145G>ASubstitution - Missense
CCDC39ENSG00000145075ENST00000273654p.E133Kc.397G>ASubstitution - Missense
ZBBXENSG00000169064ENST00000455345p.E405*c.1213G>TSubstitution - Nonsense
CD22ENSG00000012124ENST00000085219p.V315Lc.943G>CSubstitution - Missense
ABCG8ENSG00000143921ENST00000272286p.E31Kc.91G>ASubstitution - Missense
FOXN2ENSG00000170802ENST00000340553p.P191Pc.573G>ASubstitution - coding silent
NM_139285.1p.L670Lc.2010G>ASubstitution - coding silent
GNAO1ENSG00000087258ENST00000262494p.N142Sc.425A>GSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.P151Hc.452C>ASubstitution - Missense
NFE2L2ENSG00000116044ENST00000397062p.T80Rc.239C>GSubstitution - Missense
FANK1ENSG00000203780ENST00000368691p.G246Gc.738G>TSubstitution - coding silent
PKHD1ENSG00000170927ENST00000371117p.H491Hc.1473C>TSubstitution - coding silent
MUC21ENSG00000204544ENST00000376296p.S487Lc.1460C>TSubstitution - Missense
DAPK1ENSG00000196730ENST00000408954p.L1183Lc.3549G>ASubstitution - coding silent
SOGA3ENSG00000214338ENST00000368268p.?c.1101+6G>AUnknown
JADE2ENSG00000043143ENST00000395003p.D572Dc.1716C>TSubstitution - coding silent
EFNB1ENSG00000090776ENST00000204961p.T172Mc.515C>TSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.P251Pc.753C>TSubstitution - coding silent
WNT6ENSG00000115596ENST00000233948p.?c.636+8C>TUnknown
TOP2BENSG00000077097ENST00000435706p.E477Kc.1429G>ASubstitution - Missense
ERN1ENSG00000178607ENST00000433197p.V437Mc.1309G>ASubstitution - Missense
NOS2ENSG00000007171ENST00000313735p.V304Vc.912G>TSubstitution - coding silent
IVNS1ABPENSG00000116679ENST00000367498p.K464Kc.1392G>ASubstitution - coding silent
TPRENSG00000047410ENST00000367478p.D875Nc.2623G>ASubstitution - Missense
TBATAENSG00000166220ENST00000299290p.C305Rc.913T>CSubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.?c.516-8C>TUnknown
C12orf40ENSG00000180116ENST00000324616p.S459_L460insFc.1379_1380insTTTInsertion - In frame
RAD9AENSG00000172613ENST00000307980p.R150Wc.448C>TSubstitution - Missense
KIAA1199ENSG00000103888ENST00000356249p.C890*c.2670C>ASubstitution - Nonsense
ARHGAP32ENSG00000134909ENST00000392657p.N689Yc.2065A>TSubstitution - Missense
TRAF5ENSG00000082512ENST00000336184p.T284Sc.851C>GSubstitution - Missense
ENST00000414315p.P19Hc.56C>ASubstitution - Missense
COL4A5ENSG00000188153ENST00000328300p.Q1308Rc.3923A>GSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.H656Hc.1968C>TSubstitution - coding silent
CCBL1ENSG00000171097ENST00000436267p.T167Mc.500C>TSubstitution - Missense
CYP3A43ENSG00000021461ENST00000342499p.I161Ic.483C>ASubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.P394Pc.1182C>TSubstitution - coding silent
ABCC10ENSG00000124574ENST00000372530p.?c.1955+6C>TUnknown
ERBB2IPENSG00000112851ENST00000284037p.*1413*c.4238A>GSubstitution - coding silent
MAST4ENSG00000069020ENST00000261569p.L268Lc.804G>ASubstitution - coding silent
AIM1ENSG00000112297ENST00000535438p.D225Gc.674A>GSubstitution - Missense
CLINT1ENSG00000113282ENST00000411809p.S397Lc.1190C>TSubstitution - Missense
ENST00000448712p.D632Dc.1896C>TSubstitution - coding silent
PPARGC1BENSG00000155846ENST00000394320p.D820Nc.2458G>ASubstitution - Missense
PPIP5K2ENSG00000145725ENST00000358359p.?c.2637+10G>AUnknown
NTNG2ENSG00000196358ENST00000360670p.S78fs*131c.232_730del499Deletion - Frameshift
CCR3ENSG00000183625ENST00000545097p.K254Tc.761A>CSubstitution - Missense
KIDINS220ENSG00000134313ENST00000319688p.V858Lc.2572G>CSubstitution - Missense
HADHBENSG00000138029ENST00000545822p.M296Vc.886A>GSubstitution - Missense
SCN1AENSG00000144285ENST00000423058p.F796Fc.2388C>TSubstitution - coding silent
CLTCL1ENSG00000070371ENST00000427926p.W1587Cc.4761G>TSubstitution - Missense
AIFM3ENSG00000183773ENST00000405089p.R331Hc.992G>ASubstitution - Missense
SLC35C2ENSG00000080189ENST00000543605p.L135Lc.405G>ASubstitution - coding silent
NLRP7ENSG00000167634ENST00000446217p.D176Dc.528C>TSubstitution - coding silent
PTPRMENSG00000173482ENST00000400060p.G759Ec.2276G>ASubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.R989Kc.2966G>ASubstitution - Missense
AANATENSG00000129673ENST00000250615p.S103Sc.309C>TSubstitution - coding silent
NPIPB4ENSG00000185864ENST00000415645p.P356Lc.1067C>TSubstitution - Missense
USP31ENSG00000103404ENST00000219689p.R1086Wc.3256C>TSubstitution - Missense
TTC6ENSG00000139865ENST00000382320p.G329Rc.985G>ASubstitution - Missense
EVI5ENSG00000067208ENST00000543509p.R664Qc.1991G>ASubstitution - Missense
BCAR3ENSG00000137936ENST00000370247p.A105Tc.313G>ASubstitution - Missense
WLSENSG00000116729ENST00000262348p.?c.1135-7C>TUnknown
RYR2ENSG00000198626ENST00000360064p.R1082Kc.3245G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.D2942Dc.8826C>TSubstitution - coding silent
TDRD5ENSG00000162782ENST00000444136p.L150Fc.448C>TSubstitution - Missense
TDRD5ENSG00000162782ENST00000444136p.D629Hc.1885G>CSubstitution - Missense
TMBIM6ENSG00000139644ENST00000423828p.T45Ac.133A>GSubstitution - Missense
GNPTABENSG00000111670ENST00000549940p.S424Sc.1272C>GSubstitution - coding silent
TRIM6ENSG00000121236ENST00000380097p.?c.18-1G>CUnknown
PTPRJENSG00000149177ENST00000440289p.F123Lc.369T>GSubstitution - Missense
HGFACENSG00000109758ENST00000382774p.R624Wc.1870C>TSubstitution - Missense
L3MBTL1ENSG00000185513ENST00000422861p.S391Lc.1172C>TSubstitution - Missense
L3MBTL1ENSG00000185513ENST00000427442p.S673Lc.2018C>TSubstitution - Missense
PLXNB3ENSG00000198753ENST00000361971p.?c.2253+4A>GUnknown
SLC4A9ENSG00000113073ENST00000506757p.L64Pc.191T>CSubstitution - Missense
SLFN13ENSG00000154760ENST00000285013p.Q746*c.2236C>TSubstitution - Nonsense
ZZEF1ENSG00000074755ENST00000381638p.T1595Ic.4784C>TSubstitution - Missense
DAPK1ENSG00000196730ENST00000358077p.L1183Lc.3549G>ASubstitution - coding silent
CCDC125ENSG00000183323ENST00000396496p.P60Sc.178C>TSubstitution - Missense
NFATC1ENSG00000131196ENST00000329101p.A854Vc.2561C>TSubstitution - Missense
ABCA2ENSG00000107331ENST00000341511p.L735Lc.2205C>GSubstitution - coding silent
FAM65AENSG00000039523ENST00000379312p.E31Ec.93G>ASubstitution - coding silent
CLTCL1ENSG00000070371ENST00000263200p.W1587Cc.4761G>TSubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.R609Qc.1826G>ASubstitution - Missense
PTPN5ENSG00000110786ENST00000358540p.?c.1491-9G>AUnknown
HIP1RENSG00000130787ENST00000253083p.A629Ac.1887C>TSubstitution - coding silent
HNRNPCL1ENSG00000179172ENST00000317869p.I43Tc.128T>CSubstitution - Missense
CTTNENSG00000085733ENST00000301843p.E103Kc.307G>ASubstitution - Missense
OR5P3ENSG00000182334ENST00000328375p.Y266Nc.796T>ASubstitution - Missense
FANK1ENSG00000203780ENST00000368693p.G268Gc.804G>TSubstitution - coding silent
FUT11ENSG00000196968ENST00000394790p.P303Pc.909C>ASubstitution - coding silent
ZNF202ENSG00000166261ENST00000336139p.P40Lc.119C>TSubstitution - Missense
CLK3ENSG00000179335ENST00000345005p.E426Qc.1276G>CSubstitution - Missense
AIFM3ENSG00000183773ENST00000335375p.R313Hc.938G>ASubstitution - Missense
ENST00000337072p.?c.18-1G>CUnknown
L3MBTL1ENSG00000185513ENST00000373134p.S610Lc.1829C>TSubstitution - Missense
PCDHB14ENSG00000120327ENST00000239449p.A679Tc.2035G>ASubstitution - Missense
ENST00000314552p.G191Sc.571G>ASubstitution - Missense
MFI2ENSG00000163975ENST00000296351p.R294Qc.881G>ASubstitution - Missense
KRT40ENSG00000204889ENST00000398486p.V422Lc.1264G>CSubstitution - Missense
LIASENSG00000121897ENST00000261434p.N99Nc.297T>CSubstitution - coding silent
UBBENSG00000170315ENST00000395837p.G47Gc.141C>GSubstitution - coding silent
ASH1LENSG00000116539ENST00000392403p.E2571Dc.7713G>CSubstitution - Missense
CPSF6ENSG00000111605ENST00000435070p.R546Rc.1638C>TSubstitution - coding silent
VPS37CENSG00000167987ENST00000301765p.?c.94-8C>AUnknown
NUDT8ENSG00000167799ENST00000376693p.R177Qc.530G>ASubstitution - Missense
ABCC9ENSG00000069431ENST00000261201p.A1358Dc.4073C>ASubstitution - Missense
LMO7ENSG00000136153ENST00000341547p.G364Sc.1090G>ASubstitution - Missense
CR1LENSG00000197721ENST00000294997p.R333Rc.999A>GSubstitution - coding silent
ZNF462ENSG00000148143ENST00000277225p.T316Tc.948C>TSubstitution - coding silent
NLRP7ENSG00000167634ENST00000448121p.D148Dc.444C>TSubstitution - coding silent
SUSD5ENSG00000173705ENST00000309558p.R615Wc.1843C>TSubstitution - Missense
DAPK1ENSG00000196730ENST00000469640p.L1208Lc.3624G>ASubstitution - coding silent
WLSENSG00000116729ENST00000354777p.?c.1129-7C>TUnknown
FUBP3ENSG00000107164ENST00000319725p.?c.874+7A>GUnknown
XM_496125.1p.P1676Lc.5027C>TSubstitution - Missense
EPHA5ENSG00000145242ENST00000273854p.?c.1688-6C>GUnknown
SPATA22ENSG00000141255ENST00000397168p.?c.330-7A>GUnknown
HAUS7ENSG00000213397ENST00000370212p.S219Sc.657C>GSubstitution - coding silent
PPARGC1BENSG00000155846ENST00000309241p.D820Nc.2458G>ASubstitution - Missense
PCDHGA11ENSG00000253873ENST00000398587p.N602Nc.1806C>TSubstitution - coding silent
ALS2CLENSG00000178038ENST00000318962p.L694Lc.2080C>TSubstitution - coding silent
CDH18ENSG00000145526ENST00000507958p.T635Ac.1903A>GSubstitution - Missense
SEZ6LENSG00000100095ENST00000248933p.P197Sc.589C>TSubstitution - Missense
FSCN3ENSG00000106328ENST00000265825p.C125Fc.374G>TSubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.R609Qc.1826G>ASubstitution - Missense
CWC22ENSG00000163510ENST00000410053p.E80Kc.238G>ASubstitution - Missense
IFI27L1ENSG00000165948ENST00000393115p.A33Tc.97G>ASubstitution - Missense
NM_175739.2p.T201Tc.603C>TSubstitution - coding silent
RNPEPENSG00000176393ENST00000295640p.S528Cc.1583C>GSubstitution - Missense
ITLN2ENSG00000158764ENST00000368029p.L2Mc.4C>ASubstitution - Missense
HRNRENSG00000197915ENST00000368801p.A873Pc.2617G>CSubstitution - Missense
LAMTOR1ENSG00000149357ENST00000278671p.R16Qc.47G>ASubstitution - Missense
OR4X2ENSG00000172208ENST00000302329p.I213Fc.637A>TSubstitution - Missense
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.?c.5149-6T>CUnknown
ULK1ENSG00000177169ENST00000321867p.G519Gc.1557G>TSubstitution - coding silent
PEX5ENSG00000139197ENST00000266564p.Q120Kc.358C>ASubstitution - Missense
SLC37A4ENSG00000137700ENST00000330775p.I424Ic.1272T>CSubstitution - coding silent
KRT8ENSG00000170421ENST00000293308p.?c.690+2_691del522Unknown
FAT1ENSG00000083857ENST00000441802p.R2597*c.7789C>TSubstitution - Nonsense
MTMR3ENSG00000100330ENST00000333027p.Q360Kc.1078C>ASubstitution - Missense
ERN2ENSG00000134398ENST00000256797p.H411fs*8c.1233_1245del13Deletion - Frameshift
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
ANKRD24ENSG00000089847ENST00000318934p.K470Nc.1410G>CSubstitution - Missense
ANKRD24ENSG00000089847ENST00000262970p.K560Nc.1680G>CSubstitution - Missense
PCDHB14ENSG00000120327ENST00000239449p.I297Mc.891A>GSubstitution - Missense
NM_002912.1p.N2429Dc.7285A>GSubstitution - Missense
MKL1ENSG00000196588ENST00000355630p.I761Ic.2283T>CSubstitution - coding silent
KIAA0408ENSG00000189367ENST00000483725p.C240Cc.720T>CSubstitution - coding silent
MAST4ENSG00000069020ENST00000405643p.L283Lc.849G>ASubstitution - coding silent
VCX3BENSG00000205642ENST00000381029p.M208Vc.622A>GSubstitution - Missense
GUSBENSG00000169919ENST00000304895p.G572Ac.1715G>CSubstitution - Missense
ABCB1ENSG00000085563ENST00000265724p.G251Ac.752G>CSubstitution - Missense
GRM1ENSG00000152822ENST00000282753p.P1071Lc.3212C>TSubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.V1177Fc.3529G>TSubstitution - Missense
ANKRD36CENSG00000174501ENST00000420871p.?c.2902-6T>CUnknown
ARGLU1ENSG00000134884ENST00000400198p.R81Lc.242G>TSubstitution - Missense
SRRM4ENSG00000139767ENST00000267260p.?c.516-8C>TUnknown
SLC19A2ENSG00000117479ENST00000236137p.L432Lc.1294C>TSubstitution - coding silent
CNKSR2ENSG00000149970ENST00000279451p.I800Vc.2398A>GSubstitution - Missense
VPS52ENSG00000223501ENST00000445902p.Q627*c.1879C>TSubstitution - Nonsense
ZNF302ENSG00000089335ENST00000505242p.V47Ic.139G>ASubstitution - Missense
CMTR1ENSG00000137200ENST00000373451p.L645Lc.1935G>ASubstitution - coding silent
RAD17ENSG00000152942ENST00000361732p.N439Sc.1316A>GSubstitution - Missense
BEAN1ENSG00000166546ENST00000536005p.V42Ic.124G>ASubstitution - Missense
ZNF549ENSG00000121406ENST00000240719p.G268Gc.804G>TSubstitution - coding silent
ROBO1ENSG00000169855ENST00000495273p.G1050Gc.3150C>ASubstitution - coding silent
DHCR24ENSG00000116133ENST00000371269p.R261Wc.781C>TSubstitution - Missense
SERPINA9ENSG00000170054ENST00000337425p.T201Tc.603C>TSubstitution - coding silent
KAZNENSG00000189337ENST00000361144p.?c.709-3C>AUnknown
GRIA4ENSG00000152578ENST00000393125p.E413Ec.1239G>ASubstitution - coding silent
FOXJ3ENSG00000198815ENST00000372573p.P276Lc.827C>TSubstitution - Missense
SLC35E2ENSG00000215790ENST00000246421p.Q247Rc.740A>GSubstitution - Missense
LRRIQ1ENSG00000133640ENST00000393217p.E1316Qc.3946G>CSubstitution - Missense
C10orf62ENSG00000203942ENST00000370640p.T123Tc.369G>TSubstitution - coding silent
CLCNKBENSG00000184908ENST00000375679p.L387Lc.1161G>TSubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.R2597*c.7789C>TSubstitution - Nonsense
PLCB4ENSG00000101333ENST00000378473p.?c.166-6C>AUnknown
AIFM3ENSG00000183773ENST00000399167p.R325Hc.974G>ASubstitution - Missense
CLTCENSG00000141367ENST00000269122p.N340Nc.1020T>CSubstitution - coding silent
FREM3ENSG00000183090ENST00000329798p.Q2132Qc.6396G>ASubstitution - coding silent
NBEAL2ENSG00000160796ENST00000292309p.R1430Cc.4288C>TSubstitution - Missense
CDH6ENSG00000113361ENST00000265071p.A590Ac.1770A>CSubstitution - coding silent
ANKRD33BENSG00000164236ENST00000296657p.W150Gc.448T>GSubstitution - Missense
GMEB2ENSG00000101216ENST00000370077p.P111Pc.333C>TSubstitution - coding silent
LRCH3ENSG00000186001ENST00000334859p.S565Yc.1694C>ASubstitution - Missense
COL18A1ENSG00000182871ENST00000359759p.S972Sc.2916C>TSubstitution - coding silent
SND1ENSG00000197157ENST00000354725p.?c.2419-8T>CUnknown
ARHGEF3ENSG00000163947ENST00000338458p.R46Wc.136C>TSubstitution - Missense
CYFIP1ENSG00000068793ENST00000435939p.D648Nc.1942G>ASubstitution - Missense
OR2T8ENSG00000177462ENST00000319968p.S310Gc.928A>GSubstitution - Missense
ENSG00000230124ENST00000367595p.E152Ec.456A>GSubstitution - coding silent
NYNRINENSG00000205978ENST00000382554p.S975Sc.2925T>CSubstitution - coding silent
ATP7BENSG00000123191ENST00000242839p.T258Nc.773C>ASubstitution - Missense
ADRA1AENSG00000120907ENST00000380581p.R308*c.922C>TSubstitution - Nonsense
NISCHENSG00000010322ENST00000345716p.A696Vc.2087C>TSubstitution - Missense
DTX1ENSG00000135144ENST00000257600p.R83Lc.248G>TSubstitution - Missense
SLCO1A2ENSG00000084453ENST00000307378p.S42Yc.125C>ASubstitution - Missense
CCNYENSG00000108100ENST00000374706p.E102Kc.304G>ASubstitution - Missense
C3orf33ENSG00000174928ENST00000340171p.L146Fc.436C>TSubstitution - Missense
MYBPC3ENSG00000134571ENST00000545968p.S50Gc.148A>GSubstitution - Missense
ATP13A5ENSG00000187527ENST00000342358p.L691delLc.2071_2073delCTCDeletion - In frame
CLINT1ENSG00000113282ENST00000523094p.S379Lc.1136C>TSubstitution - Missense
SPATA16ENSG00000144962ENST00000351008p.A332Ac.996G>ASubstitution - coding silent
MYH9ENSG00000100345ENST00000216181p.?c.519-6T>GUnknown
MTMR8ENSG00000102043ENST00000453546p.I36Ic.108C>TSubstitution - coding silent
ANO10ENSG00000160746ENST00000292246p.R103Kc.308G>ASubstitution - Missense
IPCEF1ENSG00000074706ENST00000367220p.T29Tc.87G>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.R3900Hc.11699G>ASubstitution - Missense
PIEZO1ENSG00000103335ENST00000301015p.A2003Dc.6008C>ASubstitution - Missense
HM13ENSG00000101294ENST00000398174p.V172Ic.514G>ASubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.G1095Gc.3285C>ASubstitution - coding silent
CCDC40ENSG00000141519ENST00000397545p.N671Nc.2013C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000455263p.P151Hc.452C>ASubstitution - Missense
ENST00000300671p.R986Kc.2957G>ASubstitution - Missense
ENST00000344237p.L950Lc.2850C>GSubstitution - coding silent
RUNX3ENSG00000020633ENST00000399916p.S295Gc.883A>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.G3797Gc.11391A>GSubstitution - coding silent
NCOR2ENSG00000196498ENST00000405201p.R2235Qc.6704G>ASubstitution - Missense
ADCENSG00000142920ENST00000373443p.L81Mc.241C>ASubstitution - Missense
SMYD3ENSG00000185420ENST00000541742p.?c.526-6G>TUnknown
NM_014824.1p.G390Vc.1169G>TSubstitution - Missense
ATP7BENSG00000123191ENST00000242839p.D533Yc.1597G>TSubstitution - Missense
CELA3BENSG00000219073ENST00000374666p.R44Rc.132C>ASubstitution - coding silent
NM_014824.1p.G390Gc.1170C>TSubstitution - coding silent
APCENSG00000134982ENST00000457016p.R1171Cc.3511C>TSubstitution - Missense
PLXNB3ENSG00000198753ENST00000538282p.?c.1083+4A>GUnknown
CCDC144AENSG00000170160ENST00000456009p.S90Tc.268T>ASubstitution - Missense
GOLGA8HENSG00000261794ENST00000566740p.Q134Ec.400C>GSubstitution - Missense
GOLGA2ENSG00000167110ENST00000421699p.V218Dc.653T>ASubstitution - Missense
ZNF112ENSG00000062370ENST00000337401p.Q403*c.1207C>TSubstitution - Nonsense
AOAHENSG00000136250ENST00000258749p.N294Nc.882C>TSubstitution - coding silent
GIMAP8ENSG00000171115ENST00000307271p.E605Qc.1813G>CSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.H547Hc.1641C>TSubstitution - coding silent
XKR6ENSG00000171044ENST00000416569p.S225Fc.674C>TSubstitution - Missense
CDCP1ENSG00000163814ENST00000296129p.E610Ec.1830G>ASubstitution - coding silent
USP34ENSG00000115464ENST00000398571p.E1156Qc.3466G>CSubstitution - Missense
ENST00000397864p.L97Fc.289C>TSubstitution - Missense
ARID1BENSG00000049618ENST00000346085p.S497Nc.1490G>ASubstitution - Missense
CES4AENSG00000172824ENST00000398354p.R242Gc.724C>GSubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.V1177Fc.3529G>TSubstitution - Missense
LMTK2ENSG00000164715ENST00000297293p.V1318Mc.3952G>ASubstitution - Missense
ABCC11ENSG00000121270ENST00000356608p.M804Vc.2410A>GSubstitution - Missense
WBP2ENSG00000132471ENST00000254806p.I92Ic.276C>TSubstitution - coding silent
ATP2C2ENSG00000064270ENST00000262429p.G914Ac.2741G>CSubstitution - Missense
SECISBP2LENSG00000138593ENST00000559471p.R150Pc.449G>CSubstitution - Missense
CNIH2ENSG00000174871ENST00000311445p.G76Sc.226G>ASubstitution - Missense
SPATA21ENSG00000187144ENST00000335496p.?c.34+3A>GUnknown
SYCP1ENSG00000198765ENST00000369518p.S18Nc.53G>ASubstitution - Missense
KIAA0319LENSG00000142687ENST00000325722p.A388Dc.1163C>ASubstitution - Missense
TRIM13ENSG00000204977ENST00000356017p.G381Gc.1143G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.P151Hc.452C>ASubstitution - Missense
CPSF6ENSG00000111605ENST00000266679p.R583Rc.1749C>TSubstitution - coding silent
PKHD1ENSG00000170927ENST00000340994p.H491Hc.1473C>TSubstitution - coding silent
RYR1ENSG00000196218ENST00000359596p.E1891Kc.5671G>ASubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.K1892Ec.5674A>GSubstitution - Missense
CLINT1ENSG00000113282ENST00000523094p.S379Lc.1136C>TSubstitution - Missense
ZBBXENSG00000169064ENST00000392766p.E405*c.1213G>TSubstitution - Nonsense
ELOVL2ENSG00000197977ENST00000354666p.?c.4-4T>CUnknown
ENST00000405167p.S2394Fc.7181C>TSubstitution - Missense
TCTEX1D2ENSG00000213123ENST00000325318p.?c.381+5G>TUnknown
CCBL1ENSG00000171097ENST00000427720p.T134Mc.401C>TSubstitution - Missense
ZKSCAN2ENSG00000155592ENST00000328086p.C541Yc.1622G>ASubstitution - Missense
ABCC10ENSG00000124574ENST00000244533p.?c.1871+6C>TUnknown
FRYLENSG00000075539ENST00000503238p.K157Mc.470A>TSubstitution - Missense
ZNF850ENSG00000267041ENST00000591344p.H299Yc.895C>TSubstitution - Missense
PNMAL1ENSG00000182013ENST00000313683p.P256Pc.768C>TSubstitution - coding silent
ZNF330ENSG00000109445ENST00000262990p.A313Vc.938C>TSubstitution - Missense
PPIP5K2ENSG00000145725ENST00000321521p.?c.2637+10G>AUnknown
LRCH3ENSG00000186001ENST00000438796p.S565Yc.1694C>ASubstitution - Missense
CYP3A43ENSG00000021461ENST00000222382p.I301Ic.903C>ASubstitution - coding silent
CCDC40ENSG00000141519ENST00000374877p.N671Nc.2013C>TSubstitution - coding silent
CEP95ENSG00000258890ENST00000556440p.E95Qc.283G>CSubstitution - Missense
AANATENSG00000129673ENST00000392492p.S58Sc.174C>TSubstitution - coding silent
WDR75ENSG00000115368ENST00000314761p.N591Kc.1773T>ASubstitution - Missense
PTPN5ENSG00000110786ENST00000358540p.?c.1491-9G>AUnknown
CPSF6ENSG00000111605ENST00000435070p.R546Rc.1638C>TSubstitution - coding silent
FAT3ENSG00000165323ENST00000409404p.S1023Fc.3068C>TSubstitution - Missense
NOTCH2NLENSG00000213240ENST00000362074p.G20Gc.60G>CSubstitution - coding silent
ATMENSG00000149311ENST00000278616p.L236Lc.708T>GSubstitution - coding silent
SRRM4ENSG00000139767ENST00000267260p.?c.807-8C>TUnknown
OR10A4ENSG00000170782ENST00000379829p.S18*c.53C>ASubstitution - Nonsense
KRT8ENSG00000170421ENST00000293308p.?c.1202+2_1203del159Unknown
NTNG2ENSG00000196358ENST00000372179p.S78fs*>179c.232_730del499Deletion - Frameshift
ASTN1ENSG00000152092ENST00000367654p.L272Lc.816C>GSubstitution - coding silent
ACTN2ENSG00000077522ENST00000542672p.?c.449-9T>CUnknown
HK3ENSG00000160883ENST00000292432p.?c.914+4A>TUnknown
CTSAENSG00000064601ENST00000372484p.?c.499-7T>CUnknown
ENST00000262969p.K336Nc.1008G>CSubstitution - Missense
TNRC18ENSG00000182095ENST00000430969p.Q2706Qc.8118G>ASubstitution - coding silent
QSOX2ENSG00000165661ENST00000358701p.V394Mc.1180G>ASubstitution - Missense
PKMYT1ENSG00000127564ENST00000262300p.S330Sc.990C>TSubstitution - coding silent
DSC3ENSG00000134762ENST00000434452p.T529Tc.1587T>GSubstitution - coding silent
COL4A5ENSG00000188153ENST00000361603p.Q1302Rc.3905A>GSubstitution - Missense
RUNX3ENSG00000020633ENST00000308873p.S281Gc.841A>GSubstitution - Missense
ASH1LENSG00000116539ENST00000392403p.D2578Nc.7732G>ASubstitution - Missense
ASTN1ENSG00000152092ENST00000361833p.L272Lc.816C>GSubstitution - coding silent
TPI1ENSG00000111669ENST00000229270p.H11Yc.31C>TSubstitution - Missense
OR2AJ1ENSG00000177275ENST00000318244p.N42Dc.124A>GSubstitution - Missense
WNT8BENSG00000075290ENST00000343737p.S24Sc.72G>ASubstitution - coding silent
FREM2ENSG00000150893ENST00000280481p.A2761Ac.8283A>GSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.A2834Ac.8502C>GSubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.D2942Dc.8826C>TSubstitution - coding silent
LMO7ENSG00000136153ENST00000357063p.G698Sc.2092G>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.P151Hc.452C>ASubstitution - Missense
LPPENSG00000145012ENST00000312675p.Q102Lc.305A>TSubstitution - Missense
RC3H2ENSG00000056586ENST00000373670p.P677Sc.2029C>TSubstitution - Missense
SCAPENSG00000114650ENST00000265565p.D993Dc.2979C>TSubstitution - coding silent
LAMA4ENSG00000112769ENST00000389463p.H100Hc.300C>TSubstitution - coding silent
FANCEENSG00000112039ENST00000229769p.K475Rc.1424A>GSubstitution - Missense
RELENSG00000162924ENST00000295025p.?c.1087+3A>GUnknown
CDH18ENSG00000145526ENST00000382275p.T635Ac.1903A>GSubstitution - Missense
FAM65AENSG00000039523ENST00000042381p.H30Qc.90C>ASubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.C1589Yc.4766G>ASubstitution - Missense
BBS2ENSG00000125124ENST00000245157p.R298Wc.892C>TSubstitution - Missense
EPB41L1ENSG00000088367ENST00000338074p.L661Lc.1983C>GSubstitution - coding silent
CCDC144AENSG00000170160ENST00000360524p.S90Tc.268T>ASubstitution - Missense
CEP89ENSG00000121289ENST00000305768p.Y686*c.2058C>GSubstitution - Nonsense
WWOXENSG00000186153ENST00000355860p.E39Ec.117G>ASubstitution - coding silent
C7ENSG00000112936ENST00000313164p.?c.1261-5T>CUnknown
IPMKENSG00000151151ENST00000373935p.E275Ac.824A>CSubstitution - Missense
TMC5ENSG00000103534ENST00000219821p.I192Tc.575T>CSubstitution - Missense
GTPBP4ENSG00000107937ENST00000360803p.G350Rc.1048G>ASubstitution - Missense
SMYD3ENSG00000185420ENST00000388985p.?c.703-6G>TUnknown
SCDENSG00000099194ENST00000370355p.F297Fc.891C>TSubstitution - coding silent
ZNF112ENSG00000062370ENST00000536500p.Q420*c.1258C>TSubstitution - Nonsense
NPIPB4ENSG00000185864ENST00000357370p.P318Lc.953C>TSubstitution - Missense
HLA-DOBENSG00000241106ENST00000438763p.Q137Hc.411G>CSubstitution - Missense
SLC35C2ENSG00000080189ENST00000372227p.L106Lc.318G>ASubstitution - coding silent
TMC1ENSG00000165091ENST00000297784p.W404Rc.1210T>CSubstitution - Missense
PTPRMENSG00000173482ENST00000332175p.G759Ec.2276G>ASubstitution - Missense
MTMR8ENSG00000102043ENST00000374852p.I36Ic.108C>TSubstitution - coding silent
STK36ENSG00000163482ENST00000295709p.Q207Ec.619C>GSubstitution - Missense
TULP4ENSG00000130338ENST00000367097p.A1028Vc.3083C>TSubstitution - Missense
ZNF549ENSG00000121406ENST00000376233p.G281Gc.843G>TSubstitution - coding silent
COMTENSG00000093010ENST00000361682p.?c.289+10G>AUnknown
CACNA2D2ENSG00000007402ENST00000424201p.E910Dc.2730G>TSubstitution - Missense
ACSBG2ENSG00000130377ENST00000252669p.S174Rc.522C>GSubstitution - Missense
KAZNENSG00000189337ENST00000376030p.?c.727-3C>AUnknown
EME2ENSG00000197774ENST00000307394p.A404Ac.1212C>TSubstitution - coding silent
ABCC9ENSG00000069431ENST00000261200p.A1358Dc.4073C>ASubstitution - Missense
HNRNPFENSG00000169813ENST00000337970p.H37Hc.111T>CSubstitution - coding silent
CLCNKBENSG00000184908ENST00000375667p.L218Lc.654G>TSubstitution - coding silent
ADCENSG00000142920ENST00000358680p.L81Mc.241C>ASubstitution - Missense
CCNYENSG00000108100ENST00000374704p.E156Kc.466G>ASubstitution - Missense
FIBCD1ENSG00000130720ENST00000372338p.L204Lc.612G>ASubstitution - coding silent
DSPENSG00000096696ENST00000379802p.C2656Yc.7967G>ASubstitution - Missense
C6orf163ENSG00000203872ENST00000388923p.K299Kc.897G>ASubstitution - coding silent
ZNF462ENSG00000148143ENST00000457913p.T316Tc.948C>TSubstitution - coding silent
PPAN-P2RY11ENSG00000243207ENST00000393796p.G395Dc.1184G>ASubstitution - Missense
HACE1ENSG00000085382ENST00000262903p.G98Cc.292G>TSubstitution - Missense
GRID2IPENSG00000215045ENST00000457091p.V430Ic.1288G>ASubstitution - Missense
SGSM2ENSG00000141258ENST00000268989p.?c.1643-5C>TUnknown
GCC1ENSG00000179562ENST00000321407p.S416Fc.1247C>TSubstitution - Missense
XM_031689.7p.D2354Vc.7061A>TSubstitution - Missense
KAZNENSG00000189337ENST00000361144p.?c.709-4C>AUnknown
PAX9ENSG00000198807ENST00000402703p.Q136Hc.408G>CSubstitution - Missense
PADI1ENSG00000142623ENST00000375471p.D207Yc.619G>TSubstitution - Missense
ACTN2ENSG00000077522ENST00000366578p.?c.449-9T>CUnknown
ENST00000368148p.R2028Gc.6082A>GSubstitution - Missense
OSBPL8ENSG00000091039ENST00000261183p.?c.43-5A>GUnknown
MYBPC3ENSG00000134571ENST00000399249p.S50Gc.148A>GSubstitution - Missense
RNF148ENSG00000235631ENST00000434824p.R225Qc.674G>ASubstitution - Missense
PDE8BENSG00000113231ENST00000264917p.E809Kc.2425G>ASubstitution - Missense
ERBB2IPENSG00000112851ENST00000380943p.*1372*c.4115A>GSubstitution - coding silent
NIM1KENSG00000177453ENST00000326035p.T66Mc.197C>TSubstitution - Missense
C22orf43ENSG00000189269ENST00000317749p.S183Fc.548C>TSubstitution - Missense
ZNF736ENSG00000234444ENST00000355095p.H219Rc.656A>GSubstitution - Missense
TSEN2ENSG00000154743ENST00000284995p.?c.1339-9T>CUnknown
CYP2D6ENSG00000100197ENST00000359033p.R218Rc.654A>GSubstitution - coding silent
ENST00000376951p.G161Sc.481G>ASubstitution - Missense
NAP1L5ENSG00000177432ENST00000323061p.G125Gc.375C>GSubstitution - coding silent
SH3TC1ENSG00000125089ENST00000245105p.G905Ec.2714G>ASubstitution - Missense
CXXC11ENSG00000188011ENST00000343216p.R484Rc.1452C>TSubstitution - coding silent
LRRC24ENSG00000254402ENST00000529415p.L151Lc.453T>ASubstitution - coding silent
FBXL20ENSG00000108306ENST00000583610p.?c.399-8T>CUnknown
CEP95ENSG00000258890ENST00000556440p.E95Qc.283G>CSubstitution - Missense
DLGAP4ENSG00000080845ENST00000373913p.T497Mc.1490C>TSubstitution - Missense
CHD7ENSG00000171316ENST00000423902p.S2956Sc.8868C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.Q1086Kc.3256C>ASubstitution - Missense
SLC12A1ENSG00000074803ENST00000380993p.M188Kc.563T>ASubstitution - Missense
TDRD5ENSG00000162782ENST00000367614p.L150Fc.448C>TSubstitution - Missense
NOTCH2NLENSG00000213240ENST00000344859p.G20Gc.60G>CSubstitution - coding silent
PCNXENSG00000100731ENST00000304743p.D1548Yc.4642G>TSubstitution - Missense
NOS1ENSG00000089250ENST00000317775p.V133Mc.397G>ASubstitution - Missense
FCHSD2ENSG00000137478ENST00000409418p.G446Vc.1337G>TSubstitution - Missense
PTPRJENSG00000149177ENST00000418331p.F123Lc.369T>GSubstitution - Missense
MAST4ENSG00000069020ENST00000403666p.L273Lc.819G>ASubstitution - coding silent
RUFY2ENSG00000204130ENST00000342616p.?c.178+10G>CUnknown


COSMIC

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