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NCI-H146 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

673 mutations reported
205 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
DGKZENSG00000149091ENST00000395574p.H30Rc.89A>GSubstitution - Missense
CYFIP1ENSG00000068793ENST00000435939p.P422Lc.1265C>TSubstitution - Missense
GLMNENSG00000174842ENST00000370360p.R264Kc.791G>ASubstitution - Missense
NXF3ENSG00000147206ENST00000395065p.E93Dc.279G>TSubstitution - Missense
MYH13ENSG00000006788ENST00000252172p.F739Vc.2215T>GSubstitution - Missense
NDST3ENSG00000164100ENST00000296499p.F598Fc.1794C>TSubstitution - coding silent
CPNE4ENSG00000196353ENST00000512055p.M200Lc.598A>TSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.G3574Gc.10722A>TSubstitution - coding silent
KCNIP4ENSG00000185774ENST00000382152p.L128Qc.383T>ASubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.V3422Lc.10264G>TSubstitution - Missense
GDPD1ENSG00000153982ENST00000581140p.?c.487-6A>TUnknown
FGFR4ENSG00000160867ENST00000292408p.C101Yc.302G>ASubstitution - Missense
SPTBN2ENSG00000173898ENST00000529997p.A1126Ac.3378C>GSubstitution - coding silent
NPAS3ENSG00000151322ENST00000341321p.?c.468+8T>AUnknown
USP49ENSG00000164663ENST00000394253p.R340Lc.1019G>TSubstitution - Missense
TEX37ENSG00000172073ENST00000303254p.P177Sc.529C>TSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.E4289Gc.12866A>GSubstitution - Missense
NM_005484.2p.R368Rc.1104A>GSubstitution - coding silent
KIAA0754ENSG00000255103ENST00000530275p.A1226Ac.3678T>GSubstitution - coding silent
VPS13DENSG00000048707ENST00000358136p.?c.9871+2_9871+3insTUnknown
CYFIP1ENSG00000068793ENST00000313077p.P853Lc.2558C>TSubstitution - Missense
GRM5ENSG00000168959ENST00000418177p.S375Rc.1123A>CSubstitution - Missense
ELAVL4ENSG00000162374ENST00000357083p.?c.61-7T>AUnknown
ELAVL4ENSG00000162374ENST00000371823p.?c.10-7T>AUnknown
GBP3ENSG00000117226ENST00000370481p.L54Vc.160C>GSubstitution - Missense
ENST00000399933_v61p.P352Lc.1055C>TSubstitution - Missense
NEDD4LENSG00000049759ENST00000400345p.P385Qc.1154C>ASubstitution - Missense
EPG5ENSG00000152223ENST00000282041p.?c.6226-5T>AUnknown
ZNF329ENSG00000181894ENST00000358067p.L3Fc.9G>TSubstitution - Missense
KIAA0232ENSG00000170871ENST00000307659p.Q889*c.2665C>TSubstitution - Nonsense
SLC9A3ENSG00000066230ENST00000264938p.?c.2140+4C>AUnknown
RAB11FIP2ENSG00000107560ENST00000369199p.R413Mc.1238G>TSubstitution - Missense
USH2AENSG00000042781ENST00000366942p.S92Fc.275C>TSubstitution - Missense
UXS1ENSG00000115652ENST00000409501p.G35Gc.105C>ASubstitution - coding silent
MAGEB6ENSG00000176746ENST00000379034p.S137Sc.411C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.Y5532Fc.16595A>TSubstitution - Missense
LCTENSG00000115850ENST00000264162p.?c.3905-5C>TUnknown
CRELD2ENSG00000184164ENST00000328268p.D182Ec.546C>GSubstitution - Missense
CHSY3ENSG00000198108ENST00000305031p.A610Vc.1829C>TSubstitution - Missense
FGBENSG00000171564ENST00000302068p.A136Dc.407C>ASubstitution - Missense
ITKENSG00000113263ENST00000422843p.R44Cc.130C>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.C849Sc.2546G>CSubstitution - Missense
ZNF33AENSG00000189180ENST00000432900p.H525Hc.1575T>CSubstitution - coding silent
LILRA2ENSG00000239998ENST00000251377p.P3Tc.7C>ASubstitution - Missense
GABRR2ENSG00000111886ENST00000402938p.P211Sc.631C>TSubstitution - Missense
MAPTENSG00000186868ENST00000262410p.G683Rc.2047G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.R1184*c.3550C>TSubstitution - Nonsense
SUGT1ENSG00000165416ENST00000310528p.D326Nc.976G>ASubstitution - Missense
OR8D2ENSG00000197263ENST00000357438p.P129Lc.386C>TSubstitution - Missense
OR6Y1ENSG00000197532ENST00000302617p.A213Sc.637G>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000399634p.P2071Sc.6211C>TSubstitution - Missense
ENST00000322367p.P1535Sc.4603C>TSubstitution - Missense
GRM5ENSG00000168959ENST00000305432p.D315Dc.945T>CSubstitution - coding silent
KCNK10ENSG00000100433ENST00000312350p.G216Ac.647G>CSubstitution - Missense
AFMENSG00000079557ENST00000226355p.I46Ic.138C>ASubstitution - coding silent
ENST00000405167p.S3093Rc.9279C>GSubstitution - Missense
GINM1ENSG00000055211ENST00000367419p.L169Lc.507C>ASubstitution - coding silent
STEAP3ENSG00000115107ENST00000409811p.R410Rc.1228C>ASubstitution - coding silent
ENST00000319822p.P299Lc.896C>TSubstitution - Missense
CRELD2ENSG00000184164ENST00000328268p.G183Sc.547G>ASubstitution - Missense
WNK3ENSG00000196632ENST00000354646p.T1392Sc.4174A>TSubstitution - Missense
RTTNENSG00000176225ENST00000255674p.C1248Fc.3743G>TSubstitution - Missense
PSG5ENSG00000204941ENST00000342951p.N183Nc.549T>CSubstitution - coding silent
YBX1ENSG00000065978ENST00000436427p.P300Sc.898C>TSubstitution - Missense
MYPNENSG00000138347ENST00000354393p.R1037Rc.3111G>TSubstitution - coding silent
SIGLEC9ENSG00000129450ENST00000440804p.G65Gc.195G>TSubstitution - coding silent
NUP153ENSG00000124789ENST00000537253p.I1375Ic.4125A>TSubstitution - coding silent
OR4K15ENSG00000169488ENST00000305051p.R261Sc.781C>ASubstitution - Missense
CLPBENSG00000162129ENST00000294053p.T598Mc.1793C>TSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.S92Fc.275C>TSubstitution - Missense
ROBO3ENSG00000154134ENST00000397801p.?c.4150-2A>TUnknown
ENST00000341155p.L529Lc.1587G>TSubstitution - coding silent
PYROXD2ENSG00000119943ENST00000370575p.L202Lc.606C>TSubstitution - coding silent
SHISA9ENSG00000237515ENST00000558583p.H272Yc.814C>TSubstitution - Missense
ZFYVE26ENSG00000072121ENST00000347230p.C1509Sc.4525T>ASubstitution - Missense
LRRK1ENSG00000154237ENST00000284395p.Q1541Lc.4622A>TSubstitution - Missense
OSMRENSG00000145623ENST00000274276p.G183Wc.547G>TSubstitution - Missense
RRBP1ENSG00000125844ENST00000360807p.R373Rc.1119G>TSubstitution - coding silent
DNAH9ENSG00000007174ENST00000262442p.N4351Dc.13051A>GSubstitution - Missense
RANBP6ENSG00000137040ENST00000259569p.T977Ac.2929A>GSubstitution - Missense
LILRA2ENSG00000239998ENST00000251376p.P3Tc.7C>ASubstitution - Missense
LRGUKENSG00000155530ENST00000285928p.F465Fc.1395T>CSubstitution - coding silent
LAMA3ENSG00000053747ENST00000269217p.R1023Gc.3067A>GSubstitution - Missense
TRPC3ENSG00000138741ENST00000379645p.A311Dc.932C>ASubstitution - Missense
IRS1ENSG00000169047ENST00000305123p.?c.1_122del122Unknown
SLC26A5ENSG00000170615ENST00000339444p.S246Gc.736A>GSubstitution - Missense
SREBF2ENSG00000198911ENST00000361204p.A966Vc.2897C>TSubstitution - Missense
FRG1ENSG00000109536ENST00000226798p.G118Dc.353G>ASubstitution - Missense
FCRL3ENSG00000160856ENST00000368186p.L235Fc.703C>TSubstitution - Missense
KIF1AENSG00000130294ENST00000498729p.L1753Lc.5257C>TSubstitution - coding silent
MTSS1ENSG00000170873ENST00000378017p.?c.1156-6G>TUnknown
PLA2G4AENSG00000116711ENST00000367466p.R533Qc.1598G>ASubstitution - Missense
MAPTENSG00000186868ENST00000344290p.G701Rc.2101G>ASubstitution - Missense
ZNF33AENSG00000189180ENST00000307441p.H518Hc.1554T>CSubstitution - coding silent
CCDC7ENSG00000216937ENST00000277657p.L154Wc.461T>GSubstitution - Missense
SUGT1ENSG00000165416ENST00000343788p.D358Nc.1072G>ASubstitution - Missense
ESPL1ENSG00000135476ENST00000257934p.G1169Vc.3506G>TSubstitution - Missense
DOCK9ENSG00000088387ENST00000376460p.M1304Ic.3912G>ASubstitution - Missense
ENST00000342887p.Q344Qc.1032G>ASubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000389420p.G1539Vc.4616G>TSubstitution - Missense
ULK1ENSG00000177169ENST00000321867p.C794Cc.2382C>TSubstitution - coding silent
SSBP3ENSG00000157216ENST00000371319p.P148Lc.443C>TSubstitution - Missense
BUB1BENSG00000156970ENST00000287598p.P544Sc.1630C>TSubstitution - Missense
ATP8A1ENSG00000124406ENST00000381668p.L646Fc.1938G>CSubstitution - Missense
TUSC3ENSG00000104723ENST00000382020p.M57Ic.171G>CSubstitution - Missense
GARSENSG00000106105ENST00000389266p.Q623Qc.1869A>GSubstitution - coding silent
CARD11ENSG00000198286ENST00000396946p.Y324Yc.972C>TSubstitution - coding silent
FBLN2ENSG00000163520ENST00000404922p.?c.689-2A>TUnknown
GFRALENSG00000187871ENST00000340465p.R235Kc.704G>ASubstitution - Missense
PLA2G4CENSG00000105499ENST00000599111p.M151Ic.453G>TSubstitution - Missense
RECQL5ENSG00000108469ENST00000317905p.?c.130+5C>AUnknown
ENST00000331986p.K6113Ec.18337A>GSubstitution - Missense
MYH15ENSG00000144821ENST00000273353p.E1508Ec.4524G>ASubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.Q4318*c.12952C>TSubstitution - Nonsense
ACSS3ENSG00000111058ENST00000548058p.P267Pc.801C>TSubstitution - coding silent
TSPAN19ENSG00000231738ENST00000532498p.S181*c.542C>ASubstitution - Nonsense
CITENSG00000122966ENST00000261833p.E931*c.2791G>TSubstitution - Nonsense
MYO3AENSG00000095777ENST00000265944p.M1236Lc.3706A>TSubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.S83Rc.249T>ASubstitution - Missense
KAT6AENSG00000083168ENST00000265713p.G1999Vc.5996G>TSubstitution - Missense
SSR3ENSG00000114850ENST00000265044p.?c.260+9G>AUnknown
PRPF4BENSG00000112739ENST00000337659p.A708Vc.2123C>TSubstitution - Missense
ZNF12ENSG00000164631ENST00000405858p.K669fs*20c.2007delADeletion - Frameshift
FAM109BENSG00000177096ENST00000321753p.W230*c.689G>ASubstitution - Nonsense
LRP1BENSG00000168702ENST00000389484p.P3372Sc.10114C>TSubstitution - Missense
DNAH8ENSG00000124721ENST00000373278p.A184Vc.551C>TSubstitution - Missense
KCNIP4ENSG00000185774ENST00000447367p.L94Qc.281T>ASubstitution - Missense
BZRAP1ENSG00000005379ENST00000343736p.?c.334-8C>AUnknown
LCA5ENSG00000135338ENST00000392959p.H268Hc.804T>CSubstitution - coding silent
PCDHGB6ENSG00000253305ENST00000520790p.R427Kc.1280G>ASubstitution - Missense
GABRQENSG00000147402ENST00000370306p.?c.748+9G>AUnknown
C11orf63ENSG00000109944ENST00000307257p.G282Gc.846G>ASubstitution - coding silent
MTSS1ENSG00000170873ENST00000518547p.?c.1231-6G>TUnknown
ATP12AENSG00000075673ENST00000218548p.E807Vc.2420A>TSubstitution - Missense
ENST00000458043_v65p.Y932Cc.2795A>GSubstitution - Missense
OR4C6ENSG00000181903ENST00000314259p.I275Ic.825C>ASubstitution - coding silent
FAM177BENSG00000197520ENST00000360827p.S76Rc.228C>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.I1739Kc.5216T>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.I1739Kc.5216T>ASubstitution - Missense
CDC42BPGENSG00000171219ENST00000342711p.A1304Tc.3910G>ASubstitution - Missense
ZC2HC1CENSG00000119703ENST00000524913p.E329fs*8c.985_986insGInsertion - Frameshift
SLC5A12ENSG00000148942ENST00000396005p.Y608*c.1824C>ASubstitution - Nonsense
OR2AJ1ENSG00000177275ENST00000318244p.P129Qc.386C>ASubstitution - Missense
KLHL42ENSG00000087448ENST00000381271p.L169Lc.505C>TSubstitution - coding silent
PROKR2ENSG00000101292ENST00000217270p.Q210Rc.629A>GSubstitution - Missense
KIAA1239ENSG00000174145ENST00000309447p.G671Sc.2011G>ASubstitution - Missense
ZNF267ENSG00000185947ENST00000300870p.H426Rc.1277A>GSubstitution - Missense
POTEIENSG00000196834ENST00000451531p.H144Yc.430C>TSubstitution - Missense
IRF4ENSG00000137265ENST00000380956p.S277Sc.831C>ASubstitution - coding silent
CMYA5ENSG00000164309ENST00000446378p.P1256Lc.3767C>TSubstitution - Missense
C17orf66ENSG00000172653ENST00000311880p.Y108*c.324C>ASubstitution - Nonsense
ENST00000262969p.D174Yc.520G>TSubstitution - Missense
ARL10ENSG00000175414ENST00000310389p.E191Ec.573G>ASubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.S92Fc.275C>TSubstitution - Missense
PMFBP1ENSG00000118557ENST00000537465p.L29Lc.87G>ASubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000389420p.G1539Wc.4615G>TSubstitution - Missense
MYBPC1ENSG00000196091ENST00000361466p.L283Vc.847C>GSubstitution - Missense
SYTL2ENSG00000137501ENST00000359152p.G1724Vc.5171G>TSubstitution - Missense
IRX1ENSG00000170549ENST00000302006p.H253Hc.759C>TSubstitution - coding silent
ENST00000380947p.A233Dc.698C>ASubstitution - Missense
EDN3ENSG00000124205ENST00000311585p.T189Ic.566C>TSubstitution - Missense
EMP3ENSG00000142227ENST00000270221p.N47Nc.141C>TSubstitution - coding silent
SELPLGENSG00000110876ENST00000550948p.S290Fc.869C>TSubstitution - Missense
DNAH14ENSG00000185842ENST00000445597p.D2669Yc.8005G>TSubstitution - Missense
C1orf94ENSG00000142698ENST00000373374p.?c.439+6T>AUnknown
SF3B2ENSG00000087365ENST00000322535p.E294Kc.880G>ASubstitution - Missense
CRTC2ENSG00000160741ENST00000368633p.R106Wc.316C>TSubstitution - Missense
SYTL2ENSG00000137501ENST00000316356p.G879Vc.2636G>TSubstitution - Missense
DAAM1ENSG00000100592ENST00000351081p.E450Ec.1350A>GSubstitution - coding silent
ENST00000331986p.A6520Ec.19559C>ASubstitution - Missense
SIGLEC9ENSG00000129450ENST00000250360p.G65Gc.195G>TSubstitution - coding silent
ENSG00000155282ENST00000417488p.L125Ic.373T>ASubstitution - Missense
SMURF2ENSG00000108854ENST00000262435p.R114Rc.342G>ASubstitution - coding silent
FAM86AENSG00000118894ENST00000427587p.T289Tc.867G>ASubstitution - coding silent
TNK2ENSG00000061938ENST00000333602p.?c.235-9T>AUnknown
GGA3ENSG00000125447ENST00000245541p.R22Cc.64C>TSubstitution - Missense
ZNF100ENSG00000197020ENST00000358296p.E342*c.1024G>TSubstitution - Nonsense
LRPPRCENSG00000138095ENST00000260665p.?c.1735+3A>GUnknown
BACH2ENSG00000112182ENST00000257749p.S477Lc.1430C>TSubstitution - Missense
C2orf61ENSG00000239605ENST00000445927p.S27Sc.81G>TSubstitution - coding silent
USP46ENSG00000109189ENST00000441222p.S104*c.311C>GSubstitution - Nonsense
ANKRD55ENSG00000164512ENST00000341048p.?c.1631-3C>AUnknown
TYRP1ENSG00000107165ENST00000388918p.R87Lc.260G>TSubstitution - Missense
OR51B4ENSG00000183251ENST00000380224p.S290Rc.870C>ASubstitution - Missense
CLASP1ENSG00000074054ENST00000397587p.P179Sc.535C>TSubstitution - Missense
DZIP1ENSG00000134874ENST00000347108p.R179Lc.536G>TSubstitution - Missense
ENST00000331986p.T6117Rc.18350C>GSubstitution - Missense
METTL25ENSG00000127720ENST00000248306p.S506Sc.1518T>GSubstitution - coding silent
CNSTENSG00000162852ENST00000366513p.S378Sc.1134C>TSubstitution - coding silent
SPTY2D1ENSG00000179119ENST00000336349p.N423Dc.1267A>GSubstitution - Missense
SSBP3ENSG00000157216ENST00000371320p.P175Lc.524C>TSubstitution - Missense
TRPC5ENSG00000072315ENST00000262839p.T134Tc.402G>CSubstitution - coding silent
PPFIA3ENSG00000177380ENST00000334186p.R15Qc.44G>ASubstitution - Missense
NUP153ENSG00000124789ENST00000262077p.I1344Ic.4032A>TSubstitution - coding silent
SMC6ENSG00000163029ENST00000448223p.R152Rc.454C>ASubstitution - coding silent
SIGLEC6ENSG00000105492ENST00000425629p.A252Gc.755C>GSubstitution - Missense
ZNF354CENSG00000177932ENST00000315475p.E416Kc.1246G>ASubstitution - Missense
IL1RAPL1ENSG00000169306ENST00000378993p.D29Nc.85G>ASubstitution - Missense
ALPPENSG00000163283ENST00000392027p.V332Vc.996G>ASubstitution - coding silent
IRF4ENSG00000137265ENST00000380956p.H278Nc.832C>ASubstitution - Missense
SLC26A5ENSG00000170615ENST00000393735p.S246Gc.736A>GSubstitution - Missense
PIK3CBENSG00000051382ENST00000477593p.M68Ic.204G>TSubstitution - Missense
NETO1ENSG00000166342ENST00000397929p.A3Sc.7G>TSubstitution - Missense
CRELD2ENSG00000184164ENST00000404488p.D182Ec.546C>GSubstitution - Missense
GJA1ENSG00000152661ENST00000282561p.E110Ec.330G>ASubstitution - coding silent
FAT2ENSG00000086570ENST00000261800p.D1064Hc.3190G>CSubstitution - Missense
NPIPB5ENSG00000243716ENST00000424340p.T574Tc.1722A>TSubstitution - coding silent
NPIPB5ENSG00000243716ENST00000424340p.T574Tc.1722A>TSubstitution - coding silent
GLB1L3ENSG00000166105ENST00000431683p.T529Nc.1586C>ASubstitution - Missense
SU_CRIKp.E974*c.2920G>TSubstitution - Nonsense
LRIF1ENSG00000121931ENST00000369763p.?c.1596+9C>TUnknown
LRRK1ENSG00000154237ENST00000388948p.Q1544Lc.4631A>TSubstitution - Missense
RRBP1ENSG00000125844ENST00000377813p.R806Rc.2418G>TSubstitution - coding silent
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
ATP8A1ENSG00000124406ENST00000264449p.L631Fc.1893G>CSubstitution - Missense
SERPINB12ENSG00000166634ENST00000269491p.D309Nc.925G>ASubstitution - Missense
ZNF267ENSG00000185947ENST00000300870p.E88fs*19c.261_262delAGDeletion - Frameshift
SYNE1ENSG00000131018ENST00000265368p.Y5532Fc.16595A>TSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.A406Sc.1216G>TSubstitution - Missense
LANCL2ENSG00000132434ENST00000254770p.V327fs*18c.980delTDeletion - Frameshift
GIMAP8ENSG00000171115ENST00000307271p.S479Ic.1436G>TSubstitution - Missense
SCAND3ENSG00000232040ENST00000452236p.G639Sc.1915G>ASubstitution - Missense
OR9Q1ENSG00000186509ENST00000335397p.A24Sc.70G>TSubstitution - Missense
C11orf24ENSG00000171067ENST00000304271p.?c.76+5G>TUnknown
ARHGAP26ENSG00000145819ENST00000274498p.R293Wc.877C>TSubstitution - Missense
SLC38A5ENSG00000017483ENST00000376876p.T48Tc.144A>GSubstitution - coding silent
ABCB5ENSG00000004846ENST00000443026p.*132fs?c.391delTDeletion - Frameshift
RAET1LENSG00000155918ENST00000367341p.M1Vc.1A>GSubstitution - Missense
USP49ENSG00000164663ENST00000373006p.R340Lc.1019G>TSubstitution - Missense
PPP2R3AENSG00000073711ENST00000264977p.Q659fs*5c.1976delADeletion - Frameshift
POLKENSG00000122008ENST00000515295p.N52Yc.154A>TSubstitution - Missense
REPIN1ENSG00000214022ENST00000489432p.Q52Hc.156G>TSubstitution - Missense
MUC21ENSG00000204544ENST00000376296p.A177Ac.531C>TSubstitution - coding silent
ACTR3BENSG00000133627ENST00000256001p.?c.101-8T>GUnknown
DOCK1ENSG00000150760ENST00000280333p.E1598Dc.4794G>CSubstitution - Missense
SLAMF6ENSG00000162739ENST00000368057p.V155Vc.465G>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.T10482Tc.31446C>TSubstitution - coding silent
CASP14ENSG00000105141ENST00000427043p.E49Kc.145G>ASubstitution - Missense
ING4ENSG00000111653ENST00000341550p.R132Qc.395G>ASubstitution - Missense
ENST00000357329p.M1305Ic.3915G>ASubstitution - Missense
GYS2ENSG00000111713ENST00000261195p.Y45Yc.135T>CSubstitution - coding silent
PLA2G4EENSG00000188089ENST00000413860p.L554Vc.1660C>GSubstitution - Missense
SIRT1ENSG00000096717ENST00000212015p.Q632Hc.1896G>TSubstitution - Missense
CAMSAP2ENSG00000118200ENST00000358823p.H699Hc.2097T>CSubstitution - coding silent
SU_LRRK1p.Q1556Lc.4667A>TSubstitution - Missense
NPAS3ENSG00000151322ENST00000346562p.?c.372+8T>AUnknown
FAM189BENSG00000160767ENST00000361361p.L202Lc.604C>TSubstitution - coding silent
ATP12AENSG00000075673ENST00000381946p.E801Vc.2402A>TSubstitution - Missense
RECQL5ENSG00000108469ENST00000584999p.?c.130+5C>AUnknown
ENST00000434864p.T145Tc.435C>GSubstitution - coding silent
ALBENSG00000163631ENST00000295897p.H559Lc.1676A>TSubstitution - Missense
STAB1ENSG00000010327ENST00000321725p.D626Dc.1878C>TSubstitution - coding silent
MYH13ENSG00000006788ENST00000252172p.A1201Ec.3602C>ASubstitution - Missense
UNC50ENSG00000115446ENST00000357765p.A29Ec.86C>ASubstitution - Missense
ZIC1ENSG00000152977ENST00000282928p.L422Ic.1264T>ASubstitution - Missense
GPR39ENSG00000183840ENST00000329321p.R53Lc.158G>TSubstitution - Missense
ZNF75DENSG00000186376ENST00000370766p.T134Rc.401C>GSubstitution - Missense
LPHN3ENSG00000150471ENST00000514591p.C849Sc.2546G>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T10483Sc.31447A>TSubstitution - Missense
ENST00000331986p.T6115Tc.18345C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.K10480Ec.31438A>GSubstitution - Missense
C17orf66ENSG00000172653ENST00000589015p.Y74*c.222C>ASubstitution - Nonsense
CLDN18ENSG00000066405ENST00000183605p.R105Hc.314G>ASubstitution - Missense
VWFENSG00000110799ENST00000261405p.L2055Hc.6164T>ASubstitution - Missense
TUBGCP2ENSG00000130640ENST00000252936p.R158*c.472A>TSubstitution - Nonsense
SORCS3ENSG00000156395ENST00000369701p.L1033Pc.3098T>CSubstitution - Missense
GABRA5ENSG00000186297ENST00000335625p.N150Hc.448A>CSubstitution - Missense
SAAL1ENSG00000166788ENST00000524803p.?c.474-6A>GUnknown
NM_004667.3p.S1611Nc.4832G>ASubstitution - Missense
UCN3ENSG00000178473ENST00000380433p.L53Lc.159G>CSubstitution - coding silent
NPPAENSG00000175206ENST00000376480p.R99Rc.295C>ASubstitution - coding silent
TRIM33ENSG00000197323ENST00000358465p.V450Vc.1350C>ASubstitution - coding silent
YBX1ENSG00000065978ENST00000321358p.P250Lc.749C>TSubstitution - Missense
RNF141ENSG00000110315ENST00000265981p.Q102Pc.305A>CSubstitution - Missense
OGDHLENSG00000197444ENST00000374103p.P90Pc.270C>ASubstitution - coding silent
KCNN3ENSG00000143603ENST00000361147p.P417Lc.1250C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.P2041Sc.6121C>TSubstitution - Missense
ENST00000397697p.E838*c.2512G>TSubstitution - Nonsense
MYLK2ENSG00000101306ENST00000375994p.T505Ac.1513A>GSubstitution - Missense
ZNF205ENSG00000122386ENST00000219091p.L536Lc.1608G>ASubstitution - coding silent
EMCNENSG00000164035ENST00000296420p.S189Yc.566C>ASubstitution - Missense
IL17REENSG00000163701ENST00000454190p.P240Pc.720C>ASubstitution - coding silent
LONRF2ENSG00000170500ENST00000393437p.R730Lc.2189G>TSubstitution - Missense
CLASP1ENSG00000074054ENST00000263710p.P179Sc.535C>TSubstitution - Missense
IFNA14ENSG00000228083ENST00000380222p.V167Ac.500T>CSubstitution - Missense
RHBDL3ENSG00000141314ENST00000269051p.?c.520-6G>TUnknown
REEP6ENSG00000115255ENST00000395484p.T455Tc.1365C>TSubstitution - coding silent
FLT1ENSG00000102755ENST00000543394p.E253Kc.757G>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000507625p.C917Sc.2750G>CSubstitution - Missense
GDPD1ENSG00000153982ENST00000581276p.?c.487-6A>TUnknown
TSHZ1ENSG00000179981ENST00000580243p.K678Ec.2032A>GSubstitution - Missense
DCCENSG00000187323ENST00000412726p.Y353Fc.1058A>TSubstitution - Missense
EPG5ENSG00000152223ENST00000282041p.A2317Ac.6951G>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.T10484Rc.31451C>GSubstitution - Missense
ENST00000331986p.T6116Sc.18346A>TSubstitution - Missense
NM_000933.2p.?c.2118+9C>GUnknown
PLCB4ENSG00000101333ENST00000378473p.?c.2154+9C>GUnknown
MYT1LENSG00000186487ENST00000428368p.A979Ec.2936C>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000402717p.R1136*c.3406C>TSubstitution - Nonsense
UNC50ENSG00000115446ENST00000409975p.A46Ec.137C>ASubstitution - Missense
SIDT1ENSG00000072858ENST00000393830p.?c.836-3C>TUnknown
TNK2ENSG00000061938ENST00000316664p.?c.235-9T>AUnknown
ZNF717ENSG00000227124ENST00000400845p.R83Ic.248G>TSubstitution - Missense
IL17REENSG00000163701ENST00000421412p.P273Pc.819C>ASubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.P318fs*>18c.953_971del19Deletion - Frameshift
UNC13BENSG00000198722ENST00000396787p.F189fs*91c.564delTDeletion - Frameshift
ACSL6ENSG00000164398ENST00000379249p.G339Vc.1016G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.Y5461Fc.16382A>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.Y5144Fc.15431A>TSubstitution - Missense
ENST00000377171_v70p.D122Dc.366T>CSubstitution - coding silent
DNAH8ENSG00000124721ENST00000449981p.A184Vc.551C>TSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.A549Sc.1645G>TSubstitution - Missense
DENND2AENSG00000146966ENST00000492720p.R554Qc.1661G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.P318fs*21c.953_971del19Deletion - Frameshift
CLDN10ENSG00000134873ENST00000299339p.G100Vc.299G>TSubstitution - Missense
ENST00000414575p.K306fs*73c.918delADeletion - Frameshift
NM_015906p.V450Vc.1350C>ASubstitution - coding silent
NELL1ENSG00000165973ENST00000357134p.V802Mc.2404G>ASubstitution - Missense
HTR3BENSG00000149305ENST00000260191p.R189Kc.566G>ASubstitution - Missense
RASSF8ENSG00000123094ENST00000381352p.T252Sc.754A>TSubstitution - Missense
MUC16ENSG00000181143ENST00000380951p.?c.472+3G>TUnknown
BAIAP2ENSG00000175866ENST00000321300p.K359Rc.1076A>GSubstitution - Missense
NPC1ENSG00000141458ENST00000269228p.S739Sc.2217C>TSubstitution - coding silent
EIF2AK3ENSG00000172071ENST00000303236p.T528Mc.1583C>TSubstitution - Missense
EIF2AK3ENSG00000172071ENST00000303236p.T528Mc.1583C>TSubstitution - Missense
ENST00000360191p.L82Qc.245T>ASubstitution - Missense
ENST00000570743p.K87Nc.261G>TSubstitution - Missense
C2orf71ENSG00000179270ENST00000331664p.P1265Pc.3795G>ASubstitution - coding silent
SLC26A5ENSG00000170615ENST00000306312p.S246Gc.736A>GSubstitution - Missense
CRELD2ENSG00000184164ENST00000404488p.G183Sc.547G>ASubstitution - Missense
PCDHA8ENSG00000204962ENST00000378123p.R146Gc.436A>GSubstitution - Missense
FNBP1ENSG00000187239ENST00000420781p.G475Vc.1424G>TSubstitution - Missense
CDK5RAP2ENSG00000136861ENST00000349780p.A37Tc.109G>ASubstitution - Missense
SMC6ENSG00000163029ENST00000381272p.R178Rc.532C>ASubstitution - coding silent
DOCK9ENSG00000088387ENST00000448493p.M1316Ic.3948G>ASubstitution - Missense
SLC8A3ENSG00000100678ENST00000381269p.?c.2407+9G>AUnknown
PM20D1ENSG00000162877ENST00000367136p.M26Ic.78G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.P318fs*21c.953_971del19Deletion - Frameshift
UNC13BENSG00000198722ENST00000378495p.F177fs*91c.528delTDeletion - Frameshift
LAMA3ENSG00000053747ENST00000313654p.R2632Gc.7894A>GSubstitution - Missense
MICU3ENSG00000155970ENST00000318063p.Q193Rc.578A>GSubstitution - Missense
BZRAP1ENSG00000005379ENST00000355701p.?c.334-8C>AUnknown
PCDHGA2ENSG00000081853ENST00000394576p.A269Sc.805G>TSubstitution - Missense
BACH2ENSG00000112182ENST00000257749p.S477Lc.1430C>TSubstitution - Missense
FNBP1ENSG00000187239ENST00000446176p.G484Vc.1451G>TSubstitution - Missense
TNXBENSG00000168477ENST00000375244p.G1376Wc.4126G>TSubstitution - Missense
RIMBP2ENSG00000060709ENST00000536002p.C54*c.162C>ASubstitution - Nonsense
NM_001380.2p.E1598Dc.4794G>CSubstitution - Missense
RAB11FIP2ENSG00000107560ENST00000355624p.R413Mc.1238G>TSubstitution - Missense
HRNRENSG00000197915ENST00000368801p.G2765Gc.8295A>GSubstitution - coding silent
ENST00000240700p.?c.33+8G>TUnknown
MYH13ENSG00000006788ENST00000252172p.K87Nc.261G>TSubstitution - Missense
NUP85ENSG00000125450ENST00000245544p.L152Ic.454C>ASubstitution - Missense
ZHX2ENSG00000178764ENST00000314393p.S782Sc.2346C>TSubstitution - coding silent
TNFRSF11BENSG00000164761ENST00000297350p.S395Sc.1185A>TSubstitution - coding silent
TNFRSF11BENSG00000164761ENST00000297350p.S395Sc.1185A>TSubstitution - coding silent
DSPENSG00000096696ENST00000379802p.T2104Tc.6312A>GSubstitution - coding silent
ENST00000229606p.P186Sc.556C>TSubstitution - Missense
C2orf61ENSG00000239605ENST00000294947p.S27Sc.81G>TSubstitution - coding silent
KRT15ENSG00000171346ENST00000393976p.I167Ic.501C>TSubstitution - coding silent
C17orf53ENSG00000125319ENST00000319977p.T120Kc.359C>ASubstitution - Missense
GDPD1ENSG00000153982ENST00000284116p.?c.487-6A>TUnknown
ENSG00000272333ENST00000222270p.A2408Sc.7222G>TSubstitution - Missense
SIENSG00000090402ENST00000264382p.V452Lc.1354G>TSubstitution - Missense
LRRIQ4ENSG00000188306ENST00000340806p.Q182Hc.546G>TSubstitution - Missense
WDR49ENSG00000174776ENST00000308378p.I97Ic.291C>ASubstitution - coding silent
WDR49ENSG00000174776ENST00000453925p.I150Ic.450C>ASubstitution - coding silent
PRKCIENSG00000163558ENST00000295797p.N52Sc.155A>GSubstitution - Missense
PCDH12ENSG00000113555ENST00000231484p.L4Hc.11T>ASubstitution - Missense
MAMDC4ENSG00000177943ENST00000317446p.A762Sc.2284G>TSubstitution - Missense
MAMDC4ENSG00000177943ENST00000445819p.A841Sc.2521G>TSubstitution - Missense
SPATA31E1ENSG00000177992ENST00000325643p.V428Vc.1284G>TSubstitution - coding silent
ANKRD24ENSG00000089847ENST00000318934p.D282Yc.844G>TSubstitution - Missense
ANKRD24ENSG00000089847ENST00000262970p.D372Yc.1114G>TSubstitution - Missense
XM_498396.1p.E19Kc.55G>ASubstitution - Missense
GPR50ENSG00000102195ENST00000218316p.P81Lc.242C>TSubstitution - Missense
NM_004224.1p.P81Lc.242C>TSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.R1245Cc.3733C>TSubstitution - Missense
SIL1ENSG00000120725ENST00000394817p.E200Gc.599A>GSubstitution - Missense
PCDHA8ENSG00000204962ENST00000531613p.R146Gc.436A>GSubstitution - Missense
ENST00000305759p.A269Sc.805G>TSubstitution - Missense
OR2J2ENSG00000196231ENST00000358688p.D120Dc.360T>CSubstitution - coding silent
PRRC2AENSG00000204469ENST00000376033p.P511Pc.1533A>GSubstitution - coding silent
NPC1L1ENSG00000015520ENST00000289547p.L216Lc.646C>TSubstitution - coding silent
LANCL2ENSG00000132434ENST00000254770p.V327fs*18c.975delGDeletion - Frameshift
PMFBP1ENSG00000118557ENST00000237353p.L29Lc.87G>ASubstitution - coding silent
EMR3ENSG00000131355ENST00000253673p.?c.1921-2A>TUnknown
CIB3ENSG00000141977ENST00000269878p.L41Pc.122T>CSubstitution - Missense
C20orf27ENSG00000101220ENST00000217195p.?c.95-8C>AUnknown
ACVR2AENSG00000121989ENST00000241416p.A449Ac.1347T>CSubstitution - coding silent
FMNL2ENSG00000157827ENST00000288670p.A804Vc.2411C>TSubstitution - Missense
CLOCKENSG00000134852ENST00000381322p.P650Sc.1948C>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.C849Sc.2546G>CSubstitution - Missense
TTC21BENSG00000123607ENST00000243344p.H113Nc.337C>ASubstitution - Missense
COL22A1ENSG00000169436ENST00000303045p.P731Lc.2192C>TSubstitution - Missense
TRIM32ENSG00000119401ENST00000450136p.L80Lc.238C>TSubstitution - coding silent
FNBP1ENSG00000187239ENST00000443566p.G112Vc.335G>TSubstitution - Missense
EIF2B5ENSG00000145191ENST00000273783p.I282Mc.846C>GSubstitution - Missense
FGFR4ENSG00000160867ENST00000292410p.C101Yc.302G>ASubstitution - Missense
ERCC8ENSG00000049167ENST00000265038p.T328fs*53c.982_985delACTADeletion - Frameshift
C2ENSG00000166278ENST00000299367p.F692Sc.2075T>CSubstitution - Missense
TNXBENSG00000168477ENST00000375247p.G1463Wc.4387G>TSubstitution - Missense
HLA-DQB1ENSG00000179344ENST00000399084p.T53Tc.159G>CSubstitution - coding silent
BUB1BENSG00000156970ENST00000412359p.P558Sc.1672C>TSubstitution - Missense
CLASP1ENSG00000074054ENST00000455322p.P179Sc.535C>TSubstitution - Missense
MPP7ENSG00000150054ENST00000445954p.R172Ic.515G>TSubstitution - Missense
MYPNENSG00000138347ENST00000540630p.R1312Rc.3936G>TSubstitution - coding silent
OR52A1ENSG00000182070ENST00000380367p.Q233Lc.698A>TSubstitution - Missense
OR5D18ENSG00000186119ENST00000333976p.G234Gc.702G>ASubstitution - coding silent
SERPING1ENSG00000149131ENST00000278407p.N254Sc.761A>GSubstitution - Missense
ATP12AENSG00000075673ENST00000218548p.T403Sc.1207A>TSubstitution - Missense
DZIP1ENSG00000134874ENST00000361396p.R179Lc.536G>TSubstitution - Missense
DOCK9ENSG00000088387ENST00000449796p.M56Ic.168G>ASubstitution - Missense
CAMSAP2ENSG00000118200ENST00000236925p.H710Hc.2130T>CSubstitution - coding silent
CAMSAP2ENSG00000118200ENST00000236925p.T754Tc.2262C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.E4289Gc.12866A>GSubstitution - Missense
UNC13CENSG00000137766ENST00000545554p.S83Rc.249T>ASubstitution - Missense
EFHBENSG00000163576ENST00000295824p.S330*c.989C>ASubstitution - Nonsense
EFHBENSG00000163576ENST00000295824p.S330*c.989C>ASubstitution - Nonsense
IL17REENSG00000163701ENST00000383814p.P240Pc.720C>ASubstitution - coding silent
TACR3ENSG00000169836ENST00000304883p.H148Yc.442C>TSubstitution - Missense
RNF122ENSG00000133874ENST00000256257p.Y89Fc.266A>TSubstitution - Missense
ADAM32ENSG00000197140ENST00000379907p.?c.2163-3_2163-2insTUnknown
SLC38A5ENSG00000017483ENST00000376876p.T48Tc.144A>GSubstitution - coding silent
ZNF805ENSG00000204524ENST00000414468p.R559Wc.1675A>TSubstitution - Missense
ZNF418ENSG00000196724ENST00000396147p.E648Ec.1944G>ASubstitution - coding silent
ZNF134ENSG00000213762ENST00000396161p.S155Ic.464G>TSubstitution - Missense
NUP85ENSG00000125450ENST00000447371p.F24Lc.72C>ASubstitution - Missense
UXS1ENSG00000115652ENST00000283148p.G35Gc.105C>ASubstitution - coding silent
CLEC4FENSG00000152672ENST00000272367p.D337Gc.1010A>GSubstitution - Missense
ENST00000356539_v65p.A577Sc.1729G>TSubstitution - Missense
LEKR1ENSG00000197980ENST00000356539p.A273Sc.817G>TSubstitution - Missense
TRPC3ENSG00000138741ENST00000264811p.A238Dc.713C>ASubstitution - Missense
OLIG3ENSG00000177468ENST00000367734p.A61Tc.181G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.Y5461Fc.16382A>TSubstitution - Missense
RSPH3ENSG00000130363ENST00000252655p.T300Sc.898A>TSubstitution - Missense
GRPRENSG00000126010ENST00000380289p.K63Nc.189G>TSubstitution - Missense
IL1RAPL1ENSG00000169306ENST00000378993p.D29Nc.85G>ASubstitution - Missense
DPP10ENSG00000175497ENST00000410059p.A705Ac.2115C>ASubstitution - coding silent
DPP10ENSG00000175497ENST00000310323p.A698Ac.2094C>ASubstitution - coding silent
CNTNAP5ENSG00000155052ENST00000431078p.D836Vc.2507A>TSubstitution - Missense
WDR33ENSG00000136709ENST00000322313p.P1088Sc.3262C>TSubstitution - Missense
IWS1ENSG00000163166ENST00000295321p.G744Vc.2231G>TSubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.P2178Lc.6533C>TSubstitution - Missense
TSPYL6ENSG00000178021ENST00000317802p.E57Dc.171G>TSubstitution - Missense
POLKENSG00000122008ENST00000241436p.N52Yc.154A>TSubstitution - Missense
POLKENSG00000122008ENST00000241436p.N52Yc.154A>TSubstitution - Missense
ENST00000274361_v65p.K711Nc.2133G>TSubstitution - Missense
ANKRD31ENSG00000145700ENST00000274361p.K711Nc.2133G>TSubstitution - Missense
COX6A1P2ENSG00000226976ENST00000423336p.E65Qc.193G>CSubstitution - Missense
ENST00000238522p.P1256Lc.3767C>TSubstitution - Missense
NM_003913p.A197Vc.590C>TSubstitution - Missense
PLOD3ENSG00000106397ENST00000223127p.G369Ac.1106G>CSubstitution - Missense
AUTS2ENSG00000158321ENST00000342771p.?c.2531+3A>TUnknown
PLA2G4CENSG00000105499ENST00000413144p.M141Ic.423G>TSubstitution - Missense
ELSPBP1ENSG00000169393ENST00000339841p.A175Ac.525G>TSubstitution - coding silent
TBC1D24ENSG00000162065ENST00000567020p.Y241Fc.722A>TSubstitution - Missense
ZNF768ENSG00000169957ENST00000380412p.R248Pc.743G>CSubstitution - Missense
ENST00000451531_v68p.H144Yc.430C>TSubstitution - Missense
SIDT1ENSG00000072858ENST00000264852p.?c.836-3C>TUnknown
CPNE4ENSG00000196353ENST00000512332p.M218Lc.652A>TSubstitution - Missense
FBLN2ENSG00000163520ENST00000492059p.?c.2432-2A>TUnknown
GRK7ENSG00000114124ENST00000264952p.G203Ec.608G>ASubstitution - Missense
TLR2ENSG00000137462ENST00000260010p.T288Tc.864C>TSubstitution - coding silent
KCNIP4ENSG00000185774ENST00000382150p.L107Qc.320T>ASubstitution - Missense
KCNIP4ENSG00000185774ENST00000382148p.L103Qc.308T>ASubstitution - Missense
ENST00000248151p.L186Vc.556C>GSubstitution - Missense
FTMTENSG00000181867ENST00000321339p.P34Sc.100C>TSubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.T2161Tc.6483T>ASubstitution - coding silent
FBN2ENSG00000138829ENST00000262464p.T2161Tc.6483T>ASubstitution - coding silent
ACSL6ENSG00000164398ENST00000296869p.G364Vc.1091G>TSubstitution - Missense
ACSL6ENSG00000164398ENST00000379264p.G364Vc.1091G>TSubstitution - Missense
RASGRF2ENSG00000113319ENST00000265080p.L395Lc.1185C>GSubstitution - coding silent
TSHZ1ENSG00000179981ENST00000322038p.K633Ec.1897A>GSubstitution - Missense
SOX10ENSG00000100146ENST00000396884p.W455Lc.1364G>TSubstitution - Missense
AK9ENSG00000155085ENST00000424296p.W54Lc.161G>TSubstitution - Missense
AK9ENSG00000155085ENST00000285397p.W54Lc.161G>TSubstitution - Missense
SMPD2ENSG00000135587ENST00000258052p.Q161fs*39c.479_480insAInsertion - Frameshift
SLC35F1ENSG00000196376ENST00000360388p.V191Fc.571G>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.E1692Kc.5074G>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.E1652Kc.4954G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.?c.40417+3G>TUnknown
MUC16ENSG00000181143ENST00000397910p.T10483_T10489delTTALKTTc.31446_31466del21Deletion - In frame
ENST00000331986p.T6116_T6122delTTALKTTc.18345_18365del21Deletion - In frame
MUC16ENSG00000181143ENST00000397910p.A10887Ec.32660C>ASubstitution - Missense
IL1RAPL2ENSG00000189108ENST00000372582p.E624Dc.1872G>CSubstitution - Missense
NM_004259.4p.?c.130+5C>AUnknown
TP53ENSG00000141510ENST00000455263p.P318fs*19c.953_971del19Deletion - Frameshift
ZNF536ENSG00000198597ENST00000355537p.P157Sc.469C>TSubstitution - Missense
CCDC155ENSG00000161609ENST00000447857p.Q384Hc.1152G>TSubstitution - Missense
CCDC155ENSG00000161609ENST00000447857p.E385*c.1153G>TSubstitution - Nonsense
PPFIA3ENSG00000177380ENST00000334186p.L483Lc.1449C>TSubstitution - coding silent
EDN3ENSG00000124205ENST00000337938p.T189Ic.566C>TSubstitution - Missense
CCDC136ENSG00000128596ENST00000297788p.E838*c.2512G>TSubstitution - Nonsense
CCDC136ENSG00000128596ENST00000297788p.E954*c.2860G>TSubstitution - Nonsense
TLN1ENSG00000137076ENST00000314888p.?c.7188+9G>TUnknown
TMC1ENSG00000165091ENST00000297784p.T17Tc.51T>ASubstitution - coding silent
MYOM2ENSG00000036448ENST00000262113p.T865Mc.2594C>TSubstitution - Missense
PRICKLE2ENSG00000163637ENST00000295902p.G302Cc.904G>TSubstitution - Missense
ADRA1AENSG00000120907ENST00000358857p.R317Rc.951G>ASubstitution - coding silent
CPNE3ENSG00000085719ENST00000198765p.D428Ec.1284T>GSubstitution - Missense
CNGB3ENSG00000170289ENST00000320005p.A256Ec.767C>ASubstitution - Missense
DECR1ENSG00000104325ENST00000220764p.I184Vc.550A>GSubstitution - Missense
BRIP1ENSG00000136492ENST00000259008p.C219Rc.655T>CSubstitution - Missense
BRIP1ENSG00000136492ENST00000259008p.C219Rc.655T>CSubstitution - Missense
KCNJ12ENSG00000184185ENST00000331718p.G117Sc.349G>ASubstitution - Missense
MAPK7ENSG00000166484ENST00000308406p.H27Yc.79C>TSubstitution - Missense
UNC119ENSG00000109103ENST00000335765p.P79Sc.235C>TSubstitution - Missense
UNC119ENSG00000109103ENST00000301032p.P79Sc.235C>TSubstitution - Missense
NUFIP2ENSG00000108256ENST00000225388p.G204Dc.611G>ASubstitution - Missense
BAIAP2ENSG00000175866ENST00000321280p.K359Rc.1076A>GSubstitution - Missense
BAIAP2ENSG00000175866ENST00000435091p.K359Rc.1076A>GSubstitution - Missense
DSC1ENSG00000134765ENST00000257198p.?c.628-7C>TUnknown
DSC1ENSG00000134765ENST00000257197p.?c.628-7C>TUnknown
ZNF44ENSG00000197857ENST00000426973p.H475Hc.1425T>CSubstitution - coding silent
MX1ENSG00000157601ENST00000398598p.R50Hc.149G>ASubstitution - Missense
TSPEARENSG00000175894ENST00000323084p.I89Ic.267C>TSubstitution - coding silent
ZNF717ENSG00000227124ENST00000422325p.R90Ic.269G>TSubstitution - Missense
NPFFR2ENSG00000056291ENST00000308744p.I416Tc.1247T>CSubstitution - Missense
MED1ENSG00000125686ENST00000300651p.L90Lc.270G>TSubstitution - coding silent
KRTAP4-6ENSG00000198090ENST00000345847p.R106Rc.318T>CSubstitution - coding silent
FAM114A1ENSG00000197712ENST00000358869p.A287Vc.860C>TSubstitution - Missense
ALDH5A1ENSG00000112294ENST00000348925p.Y484Sc.1451A>CSubstitution - Missense
DENND2AENSG00000146966ENST00000275884p.R554Qc.1661G>ASubstitution - Missense
MTERFENSG00000127989ENST00000351870p.F313Yc.938T>ASubstitution - Missense
MICU3ENSG00000155970ENST00000318063p.Q193Hc.579A>TSubstitution - Missense
TUSC3ENSG00000104723ENST00000503731p.M57Ic.171G>CSubstitution - Missense
DCCENSG00000187323ENST00000442544p.Y505Fc.1514A>TSubstitution - Missense
MYO5BENSG00000167306ENST00000285039p.G1330Sc.3988G>ASubstitution - Missense
ZNF532ENSG00000074657ENST00000336078p.Q532Qc.1596G>ASubstitution - coding silent
NEDD4LENSG00000049759ENST00000382850p.P365Qc.1094C>ASubstitution - Missense
MC2RENSG00000185231ENST00000399821p.S208Sc.624C>TSubstitution - coding silent
ENST00000313266p.V59Vc.177G>TSubstitution - coding silent
KIF1AENSG00000130294ENST00000320389p.L1652Lc.4954C>TSubstitution - coding silent
VWA3BENSG00000168658ENST00000477737p.V1290Dc.3869T>ASubstitution - Missense
ZNF205ENSG00000122386ENST00000219091p.M537Lc.1609A>TSubstitution - Missense
ITGAXENSG00000140678ENST00000268296p.?c.3388-5C>AUnknown
USP7ENSG00000187555ENST00000344836p.R793Cc.2377C>TSubstitution - Missense
ENST00000570743p.A1201Ec.3602C>ASubstitution - Missense
ENST00000570743p.F739Vc.2215T>GSubstitution - Missense
SIGLEC6ENSG00000105492ENST00000346477p.S225Cc.674C>GSubstitution - Missense
ZNF665ENSG00000197497ENST00000396424p.T23Ic.68C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S3093Rc.9279C>GSubstitution - Missense
TNK2ENSG00000061938ENST00000381916p.?c.424-9T>AUnknown
TNK2ENSG00000061938ENST00000333602p.?c.235-9T>AUnknown
ENST00000299136p.T190Nc.569C>ASubstitution - Missense
NCAPD3ENSG00000151503ENST00000534548p.K1479Qc.4435A>CSubstitution - Missense
ABCC8ENSG00000006071ENST00000389817p.P317Lc.950C>TSubstitution - Missense
KRTAP5-4ENSG00000241598ENST00000399682p.K78*c.232A>TSubstitution - Nonsense
BRINP2ENSG00000198797ENST00000361539p.A72Ac.216T>ASubstitution - coding silent
TRHDEENSG00000072657ENST00000261180p.R845Rc.2535G>ASubstitution - coding silent
PIH1D2ENSG00000150773ENST00000280350p.C45Fc.134G>TSubstitution - Missense
NAV2ENSG00000166833ENST00000360655p.T660Tc.1980T>CSubstitution - coding silent
PAX6ENSG00000007372ENST00000419022p.Y383Dc.1147T>GSubstitution - Missense
DCDC1ENSG00000170959ENST00000339794p.L524Pc.1571T>CSubstitution - Missense
ENST00000429306p.L132Pc.395T>CSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.V2121Mc.6361G>ASubstitution - Missense
BRINP3ENSG00000162670ENST00000367462p.P677Hc.2030C>ASubstitution - Missense
PLA2G4AENSG00000116711ENST00000367466p.T302Tc.906A>CSubstitution - coding silent
MPP7ENSG00000150054ENST00000375732p.R297Ic.890G>TSubstitution - Missense
YME1L1ENSG00000136758ENST00000326799p.R292Rc.876A>CSubstitution - coding silent
SLC8A3ENSG00000100678ENST00000357887p.?c.2401+9G>AUnknown
PCNXENSG00000100731ENST00000304743p.?c.4448-4A>GUnknown
GSTZ1ENSG00000100577ENST00000216465p.Y31Cc.92A>GSubstitution - Missense
MYPNENSG00000138347ENST00000358913p.R1312Rc.3936G>TSubstitution - coding silent
HPXENSG00000110169ENST00000265983p.?c.836-10T>CUnknown
C11orf68ENSG00000175573ENST00000438576p.Y217Cc.650A>GSubstitution - Missense
ENST00000312536p.Y175Cc.524A>GSubstitution - Missense
ENST00000530275_v68p.A1226Ac.3678T>GSubstitution - coding silent
NOS1ENSG00000089250ENST00000317775p.L1377Lc.4131C>GSubstitution - coding silent
CITENSG00000122966ENST00000392521p.E973*c.2917G>TSubstitution - Nonsense
SPTBN5ENSG00000137877ENST00000320955p.E1242Kc.3724G>ASubstitution - Missense
MRPL37ENSG00000116221ENST00000398219p.K264Kc.791A>GSubstitution - coding silent
NPAS3ENSG00000151322ENST00000356141p.?c.468+8T>AUnknown
NPAS3ENSG00000151322ENST00000357798p.?c.429+8T>AUnknown
NID2ENSG00000087303ENST00000216286p.L110Qc.329T>ASubstitution - Missense
RASSF8ENSG00000123094ENST00000541490p.T252Sc.754A>TSubstitution - Missense
ENST00000340286p.P61Ac.181C>GSubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.P2048Sc.6142C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000399617p.P2035Sc.6103C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.P2113Sc.6337C>TSubstitution - Missense
KIAA1551ENSG00000174718ENST00000312561p.S715Ic.2144G>TSubstitution - Missense
ENST00000266524p.Q244Hc.732A>TSubstitution - Missense
KCNN3ENSG00000143603ENST00000271915p.P722Lc.2165C>TSubstitution - Missense
CAMSAP2ENSG00000118200ENST00000358823p.T743Tc.2229C>TSubstitution - coding silent
UNC13CENSG00000137766ENST00000260323p.S83Rc.249T>ASubstitution - Missense
SYTL2ENSG00000137501ENST00000354566p.G1216Vc.3647G>TSubstitution - Missense
GRM5ENSG00000168959ENST00000418177p.D315Dc.945T>CSubstitution - coding silent
GRM5ENSG00000168959ENST00000305432p.S375Rc.1123A>CSubstitution - Missense
RIMBP2ENSG00000060709ENST00000261655p.C146*c.438C>ASubstitution - Nonsense
C1orf168ENSG00000187889ENST00000343433p.?c.1503-2A>TUnknown
C1orf173ENSG00000178965ENST00000326665p.S349Tc.1046G>CSubstitution - Missense
CAMTA1ENSG00000171735ENST00000303635p.D173Vc.518A>TSubstitution - Missense
KCNK10ENSG00000100433ENST00000319231p.G216Ac.647G>CSubstitution - Missense
KCNK10ENSG00000100433ENST00000340700p.G211Ac.632G>CSubstitution - Missense
CPSF2ENSG00000165934ENST00000298875p.G76Vc.227G>TSubstitution - Missense
LRRC8BENSG00000197147ENST00000330947p.P433fs*1c.1292_1305del14Deletion - Frameshift
SPSB1ENSG00000171621ENST00000328089p.T187Nc.560C>ASubstitution - Missense
ATP12AENSG00000075673ENST00000381946p.T397Sc.1189A>TSubstitution - Missense
CASC5ENSG00000137812ENST00000346991p.S1022Ic.3065G>TSubstitution - Missense
CASC5ENSG00000137812ENST00000346991p.S1022Ic.3065G>TSubstitution - Missense
ITGA4ENSG00000115232ENST00000397033p.I423Ic.1269C>ASubstitution - coding silent
MYT1LENSG00000186487ENST00000399161p.A981Ec.2942C>ASubstitution - Missense
ZC3H15ENSG00000065548ENST00000337859p.D382fs*1c.1142_1143insTInsertion - Frameshift
RGAG1ENSG00000243978ENST00000465301p.T769Tc.2307A>GSubstitution - coding silent
RBMXL3ENSG00000175718ENST00000424776p.A798Sc.2392G>TSubstitution - Missense
CXorf64ENSG00000183631ENST00000371125p.N294Kc.882C>GSubstitution - Missense
HS6ST2ENSG00000171004ENST00000521489p.T351Ic.1052C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.A13081Dc.39242C>ASubstitution - Missense
RB1ENSG00000139687ENST00000267163p.Q850*c.2548C>TSubstitution - Nonsense
NRXN1ENSG00000179915ENST00000342183p.R109*c.325C>TSubstitution - Nonsense
NRXN1ENSG00000179915ENST00000406316p.R1144*c.3430C>TSubstitution - Nonsense
KMT2DENSG00000167548ENST00000301067p.E2911*c.8731G>TSubstitution - Nonsense
FAM135BENSG00000147724ENST00000395297p.?c.368+1G>TUnknown
FAM135BENSG00000147724ENST00000395297p.?c.368+1G>TUnknown
TAAR5ENSG00000135569ENST00000258034p.L156Lc.468G>TSubstitution - coding silent
NRXN1ENSG00000179915ENST00000404971p.R1184*c.3550C>TSubstitution - Nonsense
RB1ENSG00000139687ENST00000267163p.Q850*c.2548C>TSubstitution - Nonsense
LRP1BENSG00000168702ENST00000389484p.G4577*c.13729G>TSubstitution - Nonsense
C1orf173ENSG00000178965ENST00000326665p.R371Wc.1111C>TSubstitution - Missense
SMUG1ENSG00000123415ENST00000337581p.R140Rc.420A>CSubstitution - coding silent
OR6C75ENSG00000187857ENST00000343399p.C125Sc.373T>ASubstitution - Missense
PCDH9ENSG00000184226ENST00000377865p.F1093Fc.3279C>TSubstitution - coding silent
SELPLGENSG00000110876ENST00000388962p.S280Fc.839C>TSubstitution - Missense
DOCK9ENSG00000088387ENST00000339416p.M1305Ic.3915G>ASubstitution - Missense
CLDN10ENSG00000134873ENST00000376873p.G98Vc.293G>TSubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.?c.2179-9C>TUnknown
COL11A1ENSG00000060718ENST00000370096p.?c.2143-9C>TUnknown
PARD3ENSG00000148498ENST00000374789p.S715Sc.2145C>TSubstitution - coding silent
DNAH14ENSG00000185842ENST00000430092p.D3472Yc.10414G>TSubstitution - Missense
H3F3AENSG00000163041ENST00000366813p.R9Cc.25C>TSubstitution - Missense
CNTN5ENSG00000149972ENST00000524871p.K915Nc.2745A>CSubstitution - Missense
CNTN5ENSG00000149972ENST00000528682p.K915Nc.2745A>CSubstitution - Missense
C11orf63ENSG00000109944ENST00000227349p.G282Gc.846G>ASubstitution - coding silent
CHST1ENSG00000175264ENST00000308064p.M1Vc.1A>GSubstitution - Missense
DGKZENSG00000149091ENST00000454345p.H253Rc.758A>GSubstitution - Missense
DGKZENSG00000149091ENST00000343674p.H81Rc.242A>GSubstitution - Missense
DGKZENSG00000149091ENST00000421244p.H64Rc.191A>GSubstitution - Missense
FCRL3ENSG00000160856ENST00000368184p.L235Fc.703C>TSubstitution - Missense
OR10J1ENSG00000196184ENST00000423932p.G316Vc.947G>TSubstitution - Missense
CADM3ENSG00000162706ENST00000368124p.*433Yc.1299G>CNonstop extension
VWFENSG00000110799ENST00000261405p.L282Pc.845T>CSubstitution - Missense
GUCY2CENSG00000070019ENST00000261170p.V449Ic.1345G>ASubstitution - Missense
ENST00000279593p.P1409Lc.4226C>TSubstitution - Missense
CCNT1ENSG00000129315ENST00000261900p.R483Cc.1447C>TSubstitution - Missense
SLCO1B7ENSG00000205754ENST00000421593p.N570Ic.1709A>TSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.E2641*c.7921G>TSubstitution - Nonsense
KMT2DENSG00000167548ENST00000301067p.Q4588*c.13762C>TSubstitution - Nonsense
CRABP1ENSG00000166426ENST00000299529p.D47Ec.141C>ASubstitution - Missense
RNF121ENSG00000137522ENST00000361756p.K98fs*8c.291delGDeletion - Frameshift
ENSG00000189275ENST00000341866p.G49Vc.146G>TSubstitution - Missense
PARP2ENSG00000129484ENST00000250416p.R417Rc.1251A>GSubstitution - coding silent
OR10Q1ENSG00000180475ENST00000316770p.T79Sc.235A>TSubstitution - Missense
SPTBN2ENSG00000173898ENST00000309996p.A1126Ac.3378C>GSubstitution - coding silent
RBM14ENSG00000239306ENST00000310137p.T206Ic.617C>TSubstitution - Missense
USP44ENSG00000136014ENST00000258499p.V400Fc.1198G>TSubstitution - Missense
NALCNENSG00000102452ENST00000251127p.A1375Tc.4123G>ASubstitution - Missense
COL17A1ENSG00000065618ENST00000353479p.G827Ec.2480G>ASubstitution - Missense
ANO4ENSG00000151572ENST00000392979p.?c.1745+9C>AUnknown
PAHENSG00000171759ENST00000553106p.R169Sc.505C>ASubstitution - Missense
MYBPC1ENSG00000196091ENST00000360610p.L258Vc.772C>GSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.G1539Vc.4616G>TSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.G1539Wc.4615G>TSubstitution - Missense
FLT1ENSG00000102755ENST00000282397p.E1230Kc.3688G>ASubstitution - Missense
FMO4ENSG00000076258ENST00000367749p.P28Pc.84C>ASubstitution - coding silent
C1orf94ENSG00000142698ENST00000488417p.?c.1009+6T>AUnknown
CCDC27ENSG00000162592ENST00000294600p.C195Sc.583T>ASubstitution - Missense
USF1ENSG00000158773ENST00000368020p.G97Sc.289G>ASubstitution - Missense
CD244ENSG00000122223ENST00000368033p.G346*c.1036G>TSubstitution - Nonsense
CD244ENSG00000122223ENST00000368034p.G341*c.1021G>TSubstitution - Nonsense
SLAMF6ENSG00000162739ENST00000368059p.V155Vc.465G>ASubstitution - coding silent
ADAMTS8ENSG00000134917ENST00000257359p.K277fs*73c.831delADeletion - Frameshift
ADAMTS8ENSG00000134917ENST00000257359p.K277fs*73c.831delADeletion - Frameshift


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