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BE-13 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

989 mutations reported
318 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
MARK1ENSG00000116141ENST00000366917p.M136Ic.408G>TSubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.Y2501Yc.7503C>TSubstitution - coding silent
IPO5ENSG00000065150ENST00000261574p.F766Sc.2297T>CSubstitution - Missense
EDNRBENSG00000136160ENST00000377211p.V350Ic.1048G>ASubstitution - Missense
EDNRBENSG00000136160ENST00000334286p.V260Ic.778G>ASubstitution - Missense
EDNRBENSG00000136160ENST00000446573p.V260Ic.778G>ASubstitution - Missense
HECTD4ENSG00000173064ENST00000377560p.?c.2031+7A>GUnknown
ENST00000377560_v62p.?c.2781+7A>GUnknown
WSCD2ENSG00000075035ENST00000332082p.T286Nc.857C>ASubstitution - Missense
MED4ENSG00000136146ENST00000258648p.G22Gc.66T>GSubstitution - coding silent
CSKENSG00000103653ENST00000220003p.V126Mc.376G>ASubstitution - Missense
PCBP2ENSG00000197111ENST00000359462p.T337fs*10c.1006_1007insTInsertion - Frameshift
CR1ENSG00000203710ENST00000367049p.S1366Rc.4098C>GSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.Y163Cc.488A>GSubstitution - Missense
PLXNA2ENSG00000076356ENST00000367033p.R1309Hc.3926G>ASubstitution - Missense
C6orf132ENSG00000188112ENST00000341865p.R120*c.358C>TSubstitution - Nonsense
ISM2ENSG00000100593ENST00000342219p.R106Qc.317G>ASubstitution - Missense
MSNENSG00000147065ENST00000360270p.R320Hc.959G>ASubstitution - Missense
SLIT3ENSG00000184347ENST00000519560p.P306Lc.917C>TSubstitution - Missense
CETN1ENSG00000177143ENST00000327228p.G134Wc.400G>TSubstitution - Missense
ENST00000278816p.R264Qc.791G>ASubstitution - Missense
IL5RAENSG00000091181ENST00000446632p.D105Nc.313G>ASubstitution - Missense
LRRTM3ENSG00000198739ENST00000361320p.R175*c.523C>TSubstitution - Nonsense
ENST00000545858p.Y70Cc.209A>GSubstitution - Missense
UCP3ENSG00000175564ENST00000314032p.E72Qc.214G>CSubstitution - Missense
DNMT3AENSG00000119772ENST00000321117p.Q678*c.2032C>TSubstitution - Nonsense
TSC1ENSG00000165699ENST00000298552p.W164*c.492G>ASubstitution - Nonsense
TP53ENSG00000141510ENST00000269305p.T125Tc.375G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.Y163Cc.488A>GSubstitution - Missense
FRS2ENSG00000166225ENST00000299293p.L355Lc.1065G>ASubstitution - coding silent
NM_182530.1p.A250Tc.748G>ASubstitution - Missense
NCR3LG1ENSG00000188211ENST00000338965p.V95Gc.284T>GSubstitution - Missense
SLAMF7ENSG00000026751ENST00000368043p.R76Lc.227G>TSubstitution - Missense
TJP1ENSG00000104067ENST00000346128p.S1153Sc.3459C>TSubstitution - coding silent
TJP1ENSG00000104067ENST00000346128p.R684Hc.2051G>ASubstitution - Missense
ENST00000373082p.Q304Qc.912G>ASubstitution - coding silent
NCDNENSG00000020129ENST00000373243p.G168Gc.504G>TSubstitution - coding silent
SYNCENSG00000162520ENST00000409190p.D338Nc.1012G>ASubstitution - Missense
ENST00000367790p.C478Cc.1434C>TSubstitution - coding silent
BRCA2ENSG00000139618ENST00000544455p.D420Gc.1259A>GSubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.D420Gc.1259A>GSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.N1722Dc.5164A>GSubstitution - Missense
SLC17A8ENSG00000179520ENST00000323346p.C70Cc.210C>TSubstitution - coding silent
NT5C2ENSG00000076685ENST00000343289p.R29Qc.86G>ASubstitution - Missense
ENST00000393462p.A804Vc.2411C>TSubstitution - Missense
GFRA1ENSG00000151892ENST00000439649p.S105Ic.314G>TSubstitution - Missense
PNLIPRP1ENSG00000187021ENST00000358834p.C109Rc.325T>CSubstitution - Missense
C1orf101ENSG00000179397ENST00000366534p.?c.114+1_114+4delgtaaUnknown
C1orf101ENSG00000179397ENST00000366533p.?c.114+1_114+4delgtaaUnknown
PANK4ENSG00000157881ENST00000378466p.L191Fc.571C>TSubstitution - Missense
KDELC1ENSG00000134901ENST00000376004p.?c.845+9T>GUnknown
PPP6R3ENSG00000110075ENST00000393801p.R220Cc.658C>TSubstitution - Missense
PPP6R3ENSG00000110075ENST00000265636p.R220Cc.658C>TSubstitution - Missense
OR2AG2ENSG00000188124ENST00000338569p.Y252Cc.755A>GSubstitution - Missense
OR10V1ENSG00000172289ENST00000307552p.T96Kc.287C>ASubstitution - Missense
STXBP6ENSG00000168952ENST00000396700p.A159Tc.475G>ASubstitution - Missense
OR4K5ENSG00000176281ENST00000315915p.C72Fc.215G>TSubstitution - Missense
WDR20ENSG00000140153ENST00000335263p.N68Sc.203A>GSubstitution - Missense
CDC42BPBENSG00000198752ENST00000361246p.I887Nc.2660T>ASubstitution - Missense
OLFML1ENSG00000183801ENST00000329293p.S332Cc.994A>TSubstitution - Missense
GDPD4ENSG00000178795ENST00000315938p.L278Lc.834G>ASubstitution - coding silent
CLPBENSG00000162129ENST00000294053p.T52Pc.154A>CSubstitution - Missense
ARHGEF17ENSG00000110237ENST00000263674p.A1469Ac.4407C>TSubstitution - coding silent
SYT9ENSG00000170743ENST00000318881p.Y419Dc.1255T>GSubstitution - Missense
AENENSG00000181026ENST00000332810p.R159Pc.476G>CSubstitution - Missense
NM_172217.1p.T717Tc.2151C>TSubstitution - coding silent
GYS2ENSG00000111713ENST00000261195p.F307Lc.921T>GSubstitution - Missense
EP400ENSG00000183495ENST00000389561p.Q2820Pc.8459A>CSubstitution - Missense
PCNXL2ENSG00000135749ENST00000258229p.E1375Ec.4125A>GSubstitution - coding silent
ENST00000344698_v71p.E27Ec.81A>GSubstitution - coding silent
TBCEENSG00000116957ENST00000366601p.V111_T113>Ac.332_337delTGGAGAComplex - deletion inframe
C1QCENSG00000159189ENST00000374637p.N135Sc.404A>GSubstitution - Missense
GNPATENSG00000116906ENST00000366647p.N630Nc.1890C>TSubstitution - coding silent
MFAP5ENSG00000197614ENST00000359478p.R99Qc.296G>ASubstitution - Missense
C12orf50ENSG00000165805ENST00000298699p.R410Kc.1229G>ASubstitution - Missense
OSBPL8ENSG00000091039ENST00000261183p.D252Hc.754G>CSubstitution - Missense
ENST00000327087_v68p.A560Ac.1680C>TSubstitution - coding silent
ANO2ENSG00000047617ENST00000546188p.A561Ac.1683C>TSubstitution - coding silent
ANO2ENSG00000047617ENST00000327087p.A560Ac.1680C>TSubstitution - coding silent
INHBEENSG00000139269ENST00000266646p.R40*c.118C>TSubstitution - Nonsense
ENST00000368148p.H1871Rc.5612A>GSubstitution - Missense
KIRRELENSG00000183853ENST00000359209p.R718Qc.2153G>ASubstitution - Missense
ENST00000402751p.R164Sc.492A>CSubstitution - Missense
ENST00000402751p.N163Nc.489C>TSubstitution - coding silent
NESENSG00000132688ENST00000368223p.E908Kc.2722G>ASubstitution - Missense
PEX16ENSG00000121680ENST00000241041p.?c.695-7C>TUnknown
PKNOX2ENSG00000165495ENST00000298282p.V209fs*23c.624_625insATInsertion - Frameshift
OR6T1ENSG00000181499ENST00000321252p.S263*c.788C>GSubstitution - Nonsense
CYP2C19ENSG00000165841ENST00000371321p.R261Lc.782G>TSubstitution - Missense
TNKS2ENSG00000107854ENST00000371627p.T975Tc.2925A>TSubstitution - coding silent
ENST00000298189p.T419Kc.1256C>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000286627p.Q972Lc.2915A>TSubstitution - Missense
NM_152586.2p.H395Hc.1185T>CSubstitution - coding silent
ZMYM5ENSG00000132950ENST00000382905p.D30Nc.88G>ASubstitution - Missense
LRRC49ENSG00000137821ENST00000260382p.A664Vc.1991C>TSubstitution - Missense
THSD4ENSG00000187720ENST00000355327p.R32Mc.95G>TSubstitution - Missense
SYNE3ENSG00000176438ENST00000334258p.L293Lc.877T>CSubstitution - coding silent
SYNE3ENSG00000176438ENST00000334258p.L293Lc.877T>CSubstitution - coding silent
SYNE3ENSG00000176438ENST00000334258p.L293Lc.877T>CSubstitution - coding silent
SYDE2ENSG00000097096ENST00000341460p.R232Rc.696T>CSubstitution - coding silent
SERBP1ENSG00000142864ENST00000370995p.G366*c.1096G>TSubstitution - Nonsense
TNNI3KENSG00000116783ENST00000326637p.W630Cc.1890G>CSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.V38Mc.112G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369348p.V109Mc.325G>ASubstitution - Missense
ENSG00000268091ENST00000601092p.E87Qc.259G>CSubstitution - Missense
MMP17ENSG00000198598ENST00000360564p.L102Lc.304C>TSubstitution - coding silent
MPHOSPH9ENSG00000051825ENST00000541076p.Y935Hc.2803T>CSubstitution - Missense
NAALAD2ENSG00000077616ENST00000534061p.H637Pc.1910A>CSubstitution - Missense
ENST00000298047_v61p.P3480Tc.10438C>ASubstitution - Missense
PRCPENSG00000137509ENST00000393399p.I242Mc.726C>GSubstitution - Missense
RFX7ENSG00000181827ENST00000317318p.V1030Mc.3088G>ASubstitution - Missense
ZNF280DENSG00000137871ENST00000267807p.R621Rc.1863G>CSubstitution - coding silent
SCG3ENSG00000104112ENST00000220478p.T387Tc.1161A>GSubstitution - coding silent
WDR72ENSG00000166415ENST00000396328p.A69Vc.206C>TSubstitution - Missense
PLA2G2DENSG00000117215ENST00000375105p.G34Gc.102G>ASubstitution - coding silent
MDM4ENSG00000198625ENST00000367182p.R445Rc.1335A>GSubstitution - coding silent
ENST00000313929p.Q182fs*6c.543_544insTAInsertion - Frameshift
ENST00000456955p.T383Tc.1149G>ASubstitution - coding silent
TMEM61ENSG00000143001ENST00000371268p.P64Sc.190C>TSubstitution - Missense
PPAP2BENSG00000162407ENST00000371250p.V274Mc.820G>ASubstitution - Missense
CATSPER2ENSG00000166762ENST00000396879p.Y320Cc.959A>GSubstitution - Missense
CASC4ENSG00000166734ENST00000299957p.H372Hc.1116T>CSubstitution - coding silent
GANCENSG00000214013ENST00000318010p.P91Sc.271C>TSubstitution - Missense
RCSD1ENSG00000198771ENST00000367854p.A72Pc.214G>CSubstitution - Missense
RCSD1ENSG00000198771ENST00000367854p.A72_S73delASc.214_219delGCGAGCDeletion - In frame
NECAP2ENSG00000157191ENST00000337132p.W229Rc.685T>CSubstitution - Missense
MIIPENSG00000116691ENST00000235332p.R30Wc.88C>TSubstitution - Missense
SDF4ENSG00000078808ENST00000360001p.A300Ac.900C>TSubstitution - coding silent
C1orf167ENSG00000215910ENST00000312793p.S486Nc.1457G>ASubstitution - Missense
SU_KSR2p.R495Qc.1484G>ASubstitution - Missense
KSR2ENSG00000171435ENST00000302438p.R160Qc.479G>ASubstitution - Missense
PTCH2ENSG00000117425ENST00000372192p.Y247*c.741C>ASubstitution - Nonsense
RNF220ENSG00000187147ENST00000361799p.T303Sc.908C>GSubstitution - Missense
RNF220ENSG00000187147ENST00000355387p.T303Sc.908C>GSubstitution - Missense
LEPRE1ENSG00000117385ENST00000296388p.G357Gc.1071C>TSubstitution - coding silent
EHBP1L1ENSG00000173442ENST00000309295p.S245Rc.735C>GSubstitution - Missense
ATG2AENSG00000110046ENST00000377264p.T1670Mc.5009C>TSubstitution - Missense
TTC18ENSG00000156042ENST00000355577p.L451Vc.1351C>GSubstitution - Missense
HK1ENSG00000156515ENST00000404387p.A12Ac.36A>CSubstitution - coding silent
DNA2ENSG00000138346ENST00000399180p.L1064Lc.3192A>GSubstitution - coding silent
DNA2ENSG00000138346ENST00000358410p.L978Lc.2934A>GSubstitution - coding silent
FAM13CENSG00000148541ENST00000373868p.V74Lc.220G>TSubstitution - Missense
FAM13CENSG00000148541ENST00000422313p.V74Lc.220G>TSubstitution - Missense
HSPA14ENSG00000187522ENST00000378372p.P433Rc.1298C>GSubstitution - Missense
NSUN6ENSG00000241058ENST00000377304p.V298Vc.894T>ASubstitution - coding silent
ABCC1ENSG00000103222ENST00000399410p.Y324Hc.970T>CSubstitution - Missense
KIAA1324ENSG00000116299ENST00000369939p.S250Sc.750A>TSubstitution - coding silent
ANGPTL5ENSG00000187151ENST00000334289p.V36Vc.108A>GSubstitution - coding silent
MMP13ENSG00000137745ENST00000260302p.D317Ec.951T>GSubstitution - Missense
DYNC2H1ENSG00000187240ENST00000398093p.V1635Ac.4904T>CSubstitution - Missense
DYNC2H1ENSG00000187240ENST00000334267p.V808Ac.2423T>CSubstitution - Missense
NLRX1ENSG00000160703ENST00000409265p.L525Lc.1575C>TSubstitution - coding silent
ARHGEF12ENSG00000196914ENST00000397843p.S1394Sc.4182A>TSubstitution - coding silent
NCAM1ENSG00000149294ENST00000316851p.D324Nc.970G>ASubstitution - Missense
ENST00000316851_v65p.D324Nc.970G>ASubstitution - Missense
TRHDEENSG00000072657ENST00000261180p.F339Fc.1017C>TSubstitution - coding silent
FRS2ENSG00000166225ENST00000299293p.L355Lc.1065G>ASubstitution - coding silent
ROBO1ENSG00000169855ENST00000464233p.Y1311Fc.3932A>TSubstitution - Missense
POLR1AENSG00000068654ENST00000263857p.R37Rc.111A>GSubstitution - coding silent
KDM3AENSG00000115548ENST00000409556p.T250Tc.750A>TSubstitution - coding silent
KRTAP10-3ENSG00000212935ENST00000391620p.S159Fc.476C>TSubstitution - Missense
KRTAP10-3ENSG00000212935ENST00000391620p.S159Sc.477C>TSubstitution - coding silent
FARSAENSG00000179115ENST00000314606p.A65Vc.194C>TSubstitution - Missense
DOCK6ENSG00000130158ENST00000319867p.?c.1105-8C>TUnknown
SBNO2ENSG00000064932ENST00000361757p.S952Fc.2855C>TSubstitution - Missense
DLGAP1ENSG00000170579ENST00000315677p.A168Ac.504C>GSubstitution - coding silent
PIK3C3ENSG00000078142ENST00000262039p.L809Lc.2427G>CSubstitution - coding silent
ENST00000436173p.D1082Hc.3244G>CSubstitution - Missense
SUPT6HENSG00000109111ENST00000314616p.R551Qc.1652G>ASubstitution - Missense
ULK2ENSG00000083290ENST00000361658p.F24Yc.71T>ASubstitution - Missense
ENST00000425519p.D748Nc.2242G>ASubstitution - Missense
RAD54BENSG00000197275ENST00000336148p.I383fs*41c.1148delTDeletion - Frameshift
MMP16ENSG00000156103ENST00000286614p.G237Rc.709G>ASubstitution - Missense
TRIQKENSG00000205133ENST00000521988p.?c.148-10T>CUnknown
CSMD1ENSG00000183117ENST00000537824p.C2738Fc.8213G>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.R2711Qc.8132G>ASubstitution - Missense
SLC39A14ENSG00000104635ENST00000381237p.L5Lc.15G>CSubstitution - coding silent
ENST00000398670p.S514Gc.1540A>GSubstitution - Missense
CACNA1DENSG00000157388ENST00000350061p.A1349Ac.4047G>ASubstitution - coding silent
GLIS3ENSG00000107249ENST00000324333p.R508Lc.1523G>TSubstitution - Missense
RUSC2ENSG00000198853ENST00000361226p.R1210Wc.3628C>TSubstitution - Missense
FAM205AENSG00000205108ENST00000378788p.L1299Fc.3895C>TSubstitution - Missense
CADPS2ENSG00000081803ENST00000449022p.?c.786+1G>AUnknown
SYCP2ENSG00000196074ENST00000357552p.K1305Tc.3914A>CSubstitution - Missense
NPEPL1ENSG00000215440ENST00000356091p.?c.822+5G>CUnknown
FAM65CENSG00000042062ENST00000327979p.G496Dc.1487G>ASubstitution - Missense
MYH14ENSG00000105357ENST00000262269p.A216Tc.646G>ASubstitution - Missense
ENST00000301415p.A216Tc.646G>ASubstitution - Missense
PIH1D1ENSG00000104872ENST00000262265p.D230Nc.688G>ASubstitution - Missense
BCL2L12ENSG00000126453ENST00000246785p.?c.502+2T>CUnknown
ZNF257ENSG00000197134ENST00000435820p.K149Ec.445A>GSubstitution - Missense
ITGB4ENSG00000132470ENST00000339591p.V991Vc.2973G>ASubstitution - coding silent
ENST00000293218_v68p.V476Ic.1426G>ASubstitution - Missense
UNKENSG00000132478ENST00000293218p.V400Ic.1198G>ASubstitution - Missense
CCDC144AENSG00000170160ENST00000443444p.T1326Ac.3976A>GSubstitution - Missense
CCDC144AENSG00000170160ENST00000360524p.T1326Ac.3976A>GSubstitution - Missense
COL4A6ENSG00000197565ENST00000334504p.?c.646-8T>CUnknown
ARMCX2ENSG00000184867ENST00000330154p.T92Tc.276A>TSubstitution - coding silent
PNPLA6ENSG00000032444ENST00000414982p.G217Vc.650G>TSubstitution - Missense
PNPLA6ENSG00000032444ENST00000221249p.G169Vc.506G>TSubstitution - Missense
USP26ENSG00000134588ENST00000370832p.R825Qc.2474G>ASubstitution - Missense
STAG2ENSG00000101972ENST00000218089p.Q924Pc.2771A>CSubstitution - Missense
CXorf64ENSG00000183631ENST00000371125p.T106Rc.317C>GSubstitution - Missense
DOCK11ENSG00000147251ENST00000276202p.L1960Vc.5878T>GSubstitution - Missense
DEFA4ENSG00000164821ENST00000297435p.R95Cc.283C>TSubstitution - Missense
RGAG1ENSG00000243978ENST00000465301p.A171Dc.512C>ASubstitution - Missense
MYT1LENSG00000186487ENST00000399161p.R558Rc.1674C>TSubstitution - coding silent
ZDBF2ENSG00000204186ENST00000374423p.H945Yc.2833C>TSubstitution - Missense
PDE1AENSG00000115252ENST00000409365p.?c.53+6T>AUnknown
DZANK1ENSG00000089091ENST00000262547p.G560Gc.1680G>TSubstitution - coding silent
KIF16BENSG00000089177ENST00000408042p.T577Tc.1731C>TSubstitution - coding silent
KIF16BENSG00000089177ENST00000354981p.T577Tc.1731C>TSubstitution - coding silent
ZNF562ENSG00000171466ENST00000453372p.F213Fc.639T>CSubstitution - coding silent
MYBBP1AENSG00000132382ENST00000254718p.I459Sc.1376T>GSubstitution - Missense
LRRC46ENSG00000141294ENST00000269025p.S175Sc.525G>ASubstitution - coding silent
MSLNLENSG00000162006ENST00000293892p.P265Pc.795G>ASubstitution - coding silent
CARD6ENSG00000132357ENST00000254691p.Q275Qc.825G>ASubstitution - coding silent
MROH2BENSG00000171495ENST00000399564p.E884*c.2650G>TSubstitution - Nonsense
SLC1A3ENSG00000079215ENST00000265113p.V452Vc.1356C>GSubstitution - coding silent
CASC5ENSG00000137812ENST00000346991p.G506Rc.1516G>ASubstitution - Missense
CASC5ENSG00000137812ENST00000346991p.G506Rc.1516G>ASubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.P671Pc.2013C>GSubstitution - coding silent
XM_372202.2p.H517Nc.1549C>ASubstitution - Missense
TEX15ENSG00000133863ENST00000256246p.D902Hc.2704G>CSubstitution - Missense
WRNENSG00000165392ENST00000298139p.L986Ic.2956C>ASubstitution - Missense
AFF1ENSG00000172493ENST00000395146p.P276Pc.828G>ASubstitution - coding silent
MMRN1ENSG00000138722ENST00000394980p.S832Sc.2496C>GSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.S1770Sc.5310C>ASubstitution - coding silent
PRR14LENSG00000183530ENST00000397493p.S425Nc.1274G>ASubstitution - Missense
DEPDC5ENSG00000100150ENST00000400248p.P421Ac.1261C>GSubstitution - Missense
DEPDC5ENSG00000100150ENST00000535622p.P421Ac.1261C>GSubstitution - Missense
LILRB2ENSG00000131042ENST00000314446p.P413Lc.1238C>TSubstitution - Missense
CNOT3ENSG00000088038ENST00000358389p.Q434*c.1300C>TSubstitution - Nonsense
ZNF28ENSG00000198538ENST00000457749p.S701Gc.2101A>GSubstitution - Missense
ZNF28ENSG00000198538ENST00000438150p.S648Gc.1942A>GSubstitution - Missense
ZNF600ENSG00000189190ENST00000360272p.S648Gc.1942A>GSubstitution - Missense
MYH2ENSG00000125414ENST00000245503p.A401Tc.1201G>ASubstitution - Missense
GRIN2AENSG00000183454ENST00000396573p.R370Lc.1109G>TSubstitution - Missense
SNAI3ENSG00000185669ENST00000332281p.G53Sc.157G>ASubstitution - Missense
PIEZO1ENSG00000103335ENST00000301015p.N1147Nc.3441C>TSubstitution - coding silent
ATP2B2ENSG00000157087ENST00000360273p.T136Tc.408G>ASubstitution - coding silent
ATP2B2ENSG00000157087ENST00000383800p.T136Tc.408G>ASubstitution - coding silent
DNMT3AENSG00000119772ENST00000380746p.Q489*c.1465C>TSubstitution - Nonsense
NBEAL1ENSG00000144426ENST00000449802p.V1170Ic.3508G>ASubstitution - Missense
ALS2CR11ENSG00000155754ENST00000439140p.H119Rc.356A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.R10606Rc.31818T>CSubstitution - coding silent
NM_003319p.H10414Hc.31242T>CSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.R26317Hc.78950G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.R19945Hc.59834G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.W19558Rc.58672T>ASubstitution - Missense
ENST00000356127p.W25928Rc.77782T>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.W19625Rc.58873T>ASubstitution - Missense
NM_003319p.W19433Rc.58297T>ASubstitution - Missense
CHRNA1ENSG00000138435ENST00000261007p.H99Qc.297T>ASubstitution - Missense
TANGO2ENSG00000183597ENST00000327374p.D247Ec.741C>ASubstitution - Missense
FRG1BENSG00000149531ENST00000278882p.I126Vc.376A>GSubstitution - Missense
PTPRAENSG00000132670ENST00000380393p.?c.443-1G>AUnknown
KIR3DL1ENSG00000167633ENST00000391728p.V240Ac.719T>CSubstitution - Missense
KIR3DL1ENSG00000167633ENST00000402254p.V240Ac.719T>CSubstitution - Missense
CDH20ENSG00000101542ENST00000262717p.S560Yc.1679C>ASubstitution - Missense
CDH20ENSG00000101542ENST00000262717p.S560Sc.1680T>ASubstitution - coding silent
NM_014629.1p.E269Kc.805G>ASubstitution - Missense
ARHGEF10ENSG00000104728ENST00000398560p.E478Kc.1432G>ASubstitution - Missense
PLECENSG00000178209ENST00000322810p.T4503Ic.13508C>TSubstitution - Missense
PLECENSG00000178209ENST00000436759p.T4393Ic.13178C>TSubstitution - Missense
PLECENSG00000178209ENST00000345136p.D3202Nc.9604G>ASubstitution - Missense
LY6EENSG00000160932ENST00000292494p.S101Gc.301A>GSubstitution - Missense
ZNF655ENSG00000197343ENST00000394163p.S125Gc.373A>GSubstitution - Missense
PARP12ENSG00000059378ENST00000263549p.P637Pc.1911G>CSubstitution - coding silent
SLC17A3ENSG00000124564ENST00000397060p.S180Yc.539C>ASubstitution - Missense
WDR27ENSG00000184465ENST00000448612p.R274Cc.820C>TSubstitution - Missense
WDR27ENSG00000184465ENST00000333572p.R274Cc.820C>TSubstitution - Missense
ENST00000343819p.G56Ac.167G>CSubstitution - Missense
CNGA1ENSG00000198515ENST00000358519p.E127*c.379G>TSubstitution - Nonsense
NM_032457.1p.T1070Rc.3209C>GSubstitution - Missense
SETD4ENSG00000185917ENST00000399215p.Y129fs*1c.385_386insAInsertion - Frameshift
KRTAP4-6ENSG00000198090ENST00000345847p.R106Rc.318T>CSubstitution - coding silent
KRT32ENSG00000108759ENST00000225899p.G84Sc.250G>ASubstitution - Missense
CPNE2ENSG00000140848ENST00000290776p.Q529Qc.1587A>GSubstitution - coding silent
SOWAHBENSG00000186212ENST00000334306p.H625Nc.1873C>ASubstitution - Missense
SLC4A4ENSG00000080493ENST00000425175p.I567Vc.1699A>GSubstitution - Missense
SETD5ENSG00000168137ENST00000302463p.?c.1147-7C>GUnknown
ROBO1ENSG00000169855ENST00000495273p.Y1266Fc.3797A>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.Y1311Fc.3932A>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.Y1311Fc.3932A>TSubstitution - Missense
HCLS1ENSG00000180353ENST00000314583p.N376Tc.1127A>CSubstitution - Missense
HCLS1ENSG00000180353ENST00000314583p.N376Hc.1126A>CSubstitution - Missense
CASRENSG00000036828ENST00000296154p.T289Tc.867G>ASubstitution - coding silent
C3orf17ENSG00000163608ENST00000314400p.F108Lc.324T>GSubstitution - Missense
PHLDB2ENSG00000144824ENST00000431670p.K41fs*6c.120_123delAAAGDeletion - Frameshift
PHLDB2ENSG00000144824ENST00000393923p.K68fs*6c.201_204delAAAGDeletion - Frameshift
TICAM1ENSG00000127666ENST00000248244p.D233Ac.698A>CSubstitution - Missense
CD3EAPENSG00000117877ENST00000309424p.T296Mc.887C>TSubstitution - Missense
TAF1ENSG00000147133ENST00000276072p.N181Hc.541A>CSubstitution - Missense
PAGE5ENSG00000158639ENST00000289619p.S22Cc.64A>TSubstitution - Missense
CUX1ENSG00000257923ENST00000292535p.S1218Nc.3653G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.P1693Rc.5078C>GSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.L1516Lc.4548A>GSubstitution - coding silent
DAAM2ENSG00000146122ENST00000538976p.Q197Ec.589C>GSubstitution - Missense
FGD2ENSG00000146192ENST00000274963p.R171Qc.512G>ASubstitution - Missense
F2RENSG00000181104ENST00000319211p.Y183Cc.548A>GSubstitution - Missense
ENST00000328199_v68p.G252Rc.754G>ASubstitution - Missense
PANX2ENSG00000073150ENST00000395842p.A274Tc.820G>ASubstitution - Missense
PANX2ENSG00000073150ENST00000159647p.A274Tc.820G>ASubstitution - Missense
PARP14ENSG00000173193ENST00000474629p.Y1285Hc.3853T>CSubstitution - Missense
ENST00000310276p.Y1122Hc.3364T>CSubstitution - Missense
SMEK2ENSG00000138041ENST00000345102p.T12Ac.34A>GSubstitution - Missense
SMEK2ENSG00000138041ENST00000272313p.T12Ac.34A>GSubstitution - Missense
ASIC4ENSG00000072182ENST00000358078p.D142Nc.424G>ASubstitution - Missense
RQCD1ENSG00000144580ENST00000273064p.E176Vc.527A>TSubstitution - Missense
GREB1ENSG00000196208ENST00000381483p.A341Sc.1021G>TSubstitution - Missense
GREB1ENSG00000196208ENST00000263834p.A341Sc.1021G>TSubstitution - Missense
ENST00000381114p.K2248Nc.6744G>CSubstitution - Missense
TMEM27ENSG00000147003ENST00000380342p.K60Rc.179A>GSubstitution - Missense
SU_SK681p.E548Dc.1644A>CSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.A36Ac.108G>TSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.A36Ac.108G>TSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.A36Ac.108G>TSubstitution - coding silent
HOXA11ENSG00000005073ENST00000006015p.A96Ac.288G>ASubstitution - coding silent
TAX1BP1ENSG00000106052ENST00000396319p.T702Ac.2104A>GSubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.V2280Ic.6838G>ASubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.I2709Fc.8125A>TSubstitution - Missense
NPVFENSG00000105954ENST00000222674p.K63Qc.187A>CSubstitution - Missense
MYLIPENSG00000007944ENST00000356840p.A333Sc.997G>TSubstitution - Missense
TFB1MENSG00000029639ENST00000367166p.P14Ac.40C>GSubstitution - Missense
KIAA1244ENSG00000112379ENST00000251691p.S1813Rc.5439C>GSubstitution - Missense
ZFRENSG00000056097ENST00000265069p.G603Vc.1808G>TSubstitution - Missense
CDH18ENSG00000145526ENST00000382275p.Y658Nc.1972T>ASubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.L1704Vc.5110C>GSubstitution - Missense
ENST00000330166p.L1704Vc.5110C>GSubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.T4461Tc.13383C>TSubstitution - coding silent
FAT4ENSG00000196159ENST00000394329p.S4626Nc.13877G>ASubstitution - Missense
ENST00000330166p.S4569Nc.13706G>ASubstitution - Missense
ENST00000330166p.F4585Lc.13755C>GSubstitution - Missense
C3orf20ENSG00000131379ENST00000253697p.I226Tc.677T>CSubstitution - Missense
FGD5ENSG00000154783ENST00000285046p.S320Yc.959C>ASubstitution - Missense
FGD5ENSG00000154783ENST00000285046p.A814Ac.2442A>GSubstitution - coding silent
GPR87ENSG00000138271ENST00000260843p.F68Lc.202T>CSubstitution - Missense
SLC4A5ENSG00000188687ENST00000394019p.I390Fc.1168A>TSubstitution - Missense
ZRSR1ENSG00000212643ENST00000391338p.E367Kc.1099G>ASubstitution - Missense
KLF11ENSG00000172059ENST00000305883p.S379Rc.1137C>GSubstitution - Missense
HPCAL1ENSG00000115756ENST00000381765p.Q28Hc.84G>TSubstitution - Missense
C2orf40ENSG00000119147ENST00000238044p.R41Qc.122G>ASubstitution - Missense
OTOP3ENSG00000182938ENST00000328801p.P295Lc.884C>TSubstitution - Missense
ZNF543ENSG00000178229ENST00000321545p.P506Lc.1517C>TSubstitution - Missense
ENST00000284020p.T388Ac.1162A>GSubstitution - Missense
ZFP28ENSG00000196867ENST00000301318p.E477Ec.1431G>ASubstitution - coding silent
NM_021140.1p.F1109_N1117>*c.3326_3350>AGGGComplex - deletion inframe
FAM47CENSG00000198173ENST00000358047p.P671Pc.2013C>GSubstitution - coding silent
ING3ENSG00000071243ENST00000315870p.T407Ac.1219A>GSubstitution - Missense
LHFPL3ENSG00000187416ENST00000535008p.E236Kc.706G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Ac.418T>GSubstitution - Missense
ENST00000539307p.S177Ac.529T>GSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S123Fc.368C>TSubstitution - Missense
ENST00000539307p.S160Fc.479C>TSubstitution - Missense
HIST1H1BENSG00000184357ENST00000331442p.K194Nc.582G>TSubstitution - Missense
GEMIN5ENSG00000082516ENST00000285873p.L795Rc.2384T>GSubstitution - Missense
PCDHGA3ENSG00000254245ENST00000253812p.G802Gc.2406A>GSubstitution - coding silent
PCDHGA3ENSG00000254245ENST00000253812p.G831Gc.2493A>GSubstitution - coding silent
PCDHA13ENSG00000239389ENST00000289272p.E762fs*5c.2284_2285insGInsertion - Frameshift
ANKHD1ENSG00000131503ENST00000297183p.T1910Rc.5729C>GSubstitution - Missense
PDZD4ENSG00000067840ENST00000164640p.A321Tc.961G>ASubstitution - Missense
MTMR1ENSG00000063601ENST00000451863p.?c.423+10T>CUnknown
MCF2ENSG00000101977ENST00000519895p.?c.2284-9C>AUnknown
MCF2ENSG00000101977ENST00000370576p.?c.2056-9C>AUnknown
ADCK4ENSG00000123815ENST00000324464p.?c.1036-4C>TUnknown
ADCK4ENSG00000123815ENST00000324464p.?c.1036-4C>TUnknown
CYP2A13ENSG00000197838ENST00000330436p.L81Lc.243G>CSubstitution - coding silent
ENSG00000213922ENST00000396843p.A55fs*6c.160_161insCInsertion - Frameshift
FCGBPENSG00000090920ENST00000221347p.?c.3991-5C>GUnknown
NAA35ENSG00000135040ENST00000361671p.N77Dc.229A>GSubstitution - Missense
VAV2ENSG00000160293ENST00000406606p.G168Gc.504G>ASubstitution - coding silent
CELENSG00000170835ENST00000372080p.A486Ac.1458C>TSubstitution - coding silent
PCDHGA10ENSG00000253846ENST00000398610p.G262Ac.785G>CSubstitution - Missense
GOLIM4ENSG00000173905ENST00000470487p.R669Qc.2006G>ASubstitution - Missense
ENST00000404323p.A160Tc.478G>ASubstitution - Missense
ZNF146ENSG00000167635ENST00000443387p.E153Gc.458A>GSubstitution - Missense
WDR87ENSG00000171804ENST00000447313p.K1933*c.5797A>TSubstitution - Nonsense
GRAMD1AENSG00000089351ENST00000317991p.T659Tc.1977G>ASubstitution - coding silent
ABCC3ENSG00000108846ENST00000285238p.V1477Vc.4431C>GSubstitution - coding silent
CAMTA2ENSG00000108509ENST00000348066p.I553Ic.1659C>TSubstitution - coding silent
SLC25A39ENSG00000013306ENST00000225308p.E110Dc.330G>CSubstitution - Missense
FSHRENSG00000170820ENST00000406846p.P559Pc.1677C>TSubstitution - coding silent
KRT15ENSG00000171346ENST00000393976p.?c.1247+9C>TUnknown
ZZEF1ENSG00000074755ENST00000381638p.?c.3112-5A>CUnknown
THADAENSG00000115970ENST00000405975p.E1038delEc.3113_3115delAAGDeletion - In frame
ENST00000575751_v68p.L184Lc.552G>CSubstitution - coding silent
CYB5R4ENSG00000065615ENST00000369681p.I322Vc.964A>GSubstitution - Missense
MED23ENSG00000112282ENST00000354577p.G709Vc.2126G>TSubstitution - Missense
MED23ENSG00000112282ENST00000540546p.G709Vc.2126G>TSubstitution - Missense
L3MBTL3ENSG00000198945ENST00000368136p.A58Sc.172G>TSubstitution - Missense
EYSENSG00000188107ENST00000370621p.P94Pc.282A>GSubstitution - coding silent
COL21A1ENSG00000124749ENST00000244728p.K538Ec.1612A>GSubstitution - Missense
SOBPENSG00000112320ENST00000317357p.P492Qc.1475C>ASubstitution - Missense
MBPENSG00000197971ENST00000355994p.V45Ac.134T>CSubstitution - Missense
ARHGAP28ENSG00000088756ENST00000400091p.?c.543+6T>CUnknown
RTTNENSG00000176225ENST00000255674p.S1517Rc.4551C>ASubstitution - Missense
ERAP2ENSG00000164308ENST00000437043p.N648Sc.1943A>GSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.S4262Sc.12786C>TSubstitution - coding silent
ARRDC3ENSG00000113369ENST00000265138p.L305fs*20c.914delTDeletion - Frameshift
FBN2ENSG00000138829ENST00000508053p.L488Pc.1463T>CSubstitution - Missense
SLC6A19ENSG00000174358ENST00000304460p.Y209*c.627C>GSubstitution - Nonsense
ENST00000248151p.V373Lc.1117G>CSubstitution - Missense
ENPP6ENSG00000164303ENST00000296741p.P372Pc.1116T>CSubstitution - coding silent
CCDC110ENSG00000168491ENST00000307588p.N304Hc.910A>CSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.V2687Vc.8061T>ASubstitution - coding silent
ABCE1ENSG00000164163ENST00000296577p.C288Sc.863G>CSubstitution - Missense
OTUD4ENSG00000164164ENST00000447906p.P787Lc.2360C>TSubstitution - Missense
XPCENSG00000154767ENST00000285021p.?c.413-4A>GUnknown
NME9ENSG00000181322ENST00000333911p.Q106*c.316C>TSubstitution - Nonsense
ACPPENSG00000014257ENST00000351273p.Y247Cc.740A>GSubstitution - Missense
MAATS1ENSG00000183833ENST00000273390p.R618Cc.1852C>TSubstitution - Missense
HCLS1ENSG00000180353ENST00000314583p.N376Nc.1128T>CSubstitution - coding silent
SLC25A39ENSG00000013306ENST00000377095p.E118Dc.354G>CSubstitution - Missense
AP1G1ENSG00000166747ENST00000393512p.F399Fc.1197T>CSubstitution - coding silent
AP1G1ENSG00000166747ENST00000423132p.F399Fc.1197T>CSubstitution - coding silent
ABCC1ENSG00000103222ENST00000399408p.Y324Hc.970T>CSubstitution - Missense
SRCAPENSG00000080603ENST00000262518p.P1996Sc.5986C>TSubstitution - Missense
SNRPNENSG00000128739ENST00000444203p.A161Vc.482C>TSubstitution - Missense
RTL1ENSG00000254656ENST00000534062p.A704Vc.2111C>TSubstitution - Missense
WDR78ENSG00000152763ENST00000371023p.V410Vc.1230T>CSubstitution - coding silent
NRD1ENSG00000078618ENST00000544028p.F355Fc.1065T>CSubstitution - coding silent
ENSG00000143674ENST00000366623p.R553Gc.1657C>GSubstitution - Missense
ENST00000367790_v70p.C478Cc.1434C>TSubstitution - coding silent
CDK11BENSG00000248333ENST00000317673p.P668Pc.2004C>GSubstitution - coding silent
NBEAENSG00000172915ENST00000400445p.A2085Ac.6255A>TSubstitution - coding silent
CCDC65ENSG00000139537ENST00000266984p.D173Dc.519T>CSubstitution - coding silent
ITGA7ENSG00000135424ENST00000257880p.P295Sc.883C>TSubstitution - Missense
PLCZ1ENSG00000139151ENST00000541695p.G302Cc.904G>TSubstitution - Missense
WSCD2ENSG00000075035ENST00000261400p.T286Nc.857C>ASubstitution - Missense
MPHOSPH9ENSG00000051825ENST00000302349p.Y935Hc.2803T>CSubstitution - Missense
GDPD4ENSG00000178795ENST00000376217p.L278Lc.834G>ASubstitution - coding silent
TRIM48ENSG00000150244ENST00000417545p.P202Hc.605C>ASubstitution - Missense
NM_024114.2p.P186Hc.557C>ASubstitution - Missense
TRIM49BENSG00000182053ENST00000332682p.E418*c.1252G>TSubstitution - Nonsense
TRIM49BENSG00000182053ENST00000332682p.G412Gc.1236A>GSubstitution - coding silent
TRIM49BENSG00000182053ENST00000332682p.G412Rc.1234G>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000372443p.Q999Lc.2996A>TSubstitution - Missense
NUTM2EENSG00000228570ENST00000429984p.T676Kc.2027C>ASubstitution - Missense
LUZP4ENSG00000102021ENST00000371920p.R264Kc.791G>ASubstitution - Missense
IL5RAENSG00000091181ENST00000383846p.D105Nc.313G>ASubstitution - Missense
TP53ENSG00000141510ENST00000420246p.Y163Cc.488A>GSubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.A3079Vc.9236C>TSubstitution - Missense
RGS14ENSG00000169220ENST00000408923p.C332Fc.995G>TSubstitution - Missense
ENST00000388903p.R2080Hc.6239G>ASubstitution - Missense
ATP13A5ENSG00000187527ENST00000342358p.M476Tc.1427T>CSubstitution - Missense
FSTL5ENSG00000168843ENST00000306100p.E25Kc.73G>ASubstitution - Missense
IGF2BP2ENSG00000073792ENST00000421047p.A278Sc.832G>TSubstitution - Missense
PPAPDC3ENSG00000160539ENST00000372264p.S38*c.113C>ASubstitution - Nonsense
MPDZENSG00000107186ENST00000541718p.L1523Lc.4569C>GSubstitution - coding silent
NM_003829.1p.L1523Lc.4569C>GSubstitution - coding silent
C9orf91ENSG00000157693ENST00000288502p.P9Pc.27G>ASubstitution - coding silent
ABCB11ENSG00000073734ENST00000263817p.D482Hc.1444G>CSubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.R2272Hc.6815G>ASubstitution - Missense
COBLL1ENSG00000082438ENST00000342193p.P725Lc.2174C>TSubstitution - Missense
MACC1ENSG00000183742ENST00000332878p.V415Ic.1243G>ASubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
TMEM184AENSG00000164855ENST00000297477p.T166Nc.497C>ASubstitution - Missense
RIF1ENSG00000080345ENST00000444746p.S2454Cc.7361C>GSubstitution - Missense
NEURL2ENSG00000124257ENST00000372518p.D173Gc.518A>GSubstitution - Missense
ZMYND8ENSG00000101040ENST00000461685p.N884Sc.2651A>GSubstitution - Missense
ZMYND8ENSG00000101040ENST00000536340p.N937Sc.2810A>GSubstitution - Missense
ZNF235ENSG00000159917ENST00000291182p.K653Kc.1959A>GSubstitution - coding silent
ZNF229ENSG00000167383ENST00000291187p.A191Ac.573G>ASubstitution - coding silent
ENST00000251268_v61p.?c.1390+6G>AUnknown
ZSWIM4ENSG00000132003ENST00000254323p.L605Rc.1814T>GSubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.?c.3284+3G>TUnknown
TSC2ENSG00000103197ENST00000219476p.?c.3284+3G>TUnknown
METTL9ENSG00000197006ENST00000358154p.L137Lc.411G>CSubstitution - coding silent
ENST00000316490p.E2246Dc.6738G>CSubstitution - Missense
AARSENSG00000090861ENST00000261772p.M370Vc.1108A>GSubstitution - Missense
VPS4AENSG00000132612ENST00000254950p.?c.344-4G>AUnknown
ABCA13ENSG00000179869ENST00000435803p.I2638Vc.7912A>GSubstitution - Missense
ENST00000319379p.I2583Vc.7747A>GSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.H3258Lc.9773A>TSubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.H3258Lc.9773A>TSubstitution - Missense
PDIA4ENSG00000155660ENST00000286091p.D457Nc.1369G>ASubstitution - Missense
COBLENSG00000106078ENST00000395542p.Q775Kc.2323C>ASubstitution - Missense
COL21A1ENSG00000124749ENST00000535941p.K538Ec.1612A>GSubstitution - Missense
LATS1ENSG00000131023ENST00000543571p.K724*c.2170A>TSubstitution - Nonsense
AGBL1ENSG00000166748ENST00000389298p.T420Tc.1260C>GSubstitution - coding silent
KCNMA1ENSG00000156113ENST00000404771p.Q967Lc.2900A>TSubstitution - Missense
TRIM49BENSG00000182053ENST00000332682p.C417Wc.1251T>GSubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.R2247Hc.6740G>ASubstitution - Missense
TENM2ENSG00000145934ENST00000519204p.R2126Hc.6377G>ASubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.G1176Rc.3526G>ASubstitution - Missense
ANKRD7ENSG00000106013ENST00000357099p.G221Ac.662G>CSubstitution - Missense
DHX33ENSG00000005100ENST00000225296p.R541Qc.1622G>ASubstitution - Missense
ANKS6ENSG00000165138ENST00000353234p.?c.907+6C>TUnknown
FRG1ENSG00000109536ENST00000226798p.M177Ic.531G>CSubstitution - Missense
ACPPENSG00000014257ENST00000336375p.Y247Cc.740A>GSubstitution - Missense
GP9ENSG00000169704ENST00000307395p.P47Hc.140C>ASubstitution - Missense
NM_003319p.R19820Hc.59459G>ASubstitution - Missense
CABLES1ENSG00000134508ENST00000256925p.D464Hc.1390G>CSubstitution - Missense
PLECENSG00000178209ENST00000354958p.D3180Nc.9538G>ASubstitution - Missense
FAM205AENSG00000205108ENST00000378788p.L1299Fc.3895C>TSubstitution - Missense
LZTS1ENSG00000061337ENST00000381569p.P104Sc.310C>TSubstitution - Missense
CACNA1DENSG00000157388ENST00000288139p.A1369Ac.4107G>ASubstitution - coding silent
ZNF596ENSG00000172748ENST00000308811p.Q58Qc.174A>GSubstitution - coding silent
MKKSENSG00000125863ENST00000399054p.R309Hc.926G>ASubstitution - Missense
DUOX1ENSG00000137857ENST00000389037p.R370Hc.1109G>ASubstitution - Missense
SORCS1ENSG00000108018ENST00000344440p.I941Tc.2822T>CSubstitution - Missense
NAV3ENSG00000067798ENST00000397909p.V339Vc.1017C>GSubstitution - coding silent
LYSTENSG00000143669ENST00000389793p.Q750Kc.2248C>ASubstitution - Missense
THSD4ENSG00000187720ENST00000355327p.P610Pc.1830G>TSubstitution - coding silent
ENST00000302418_v70p.?c.1306-5T>CUnknown
KIRRELENSG00000183853ENST00000392272p.R554Qc.1661G>ASubstitution - Missense
FANCMENSG00000187790ENST00000267430p.E554*c.1660G>TSubstitution - Nonsense
MAP3K15ENSG00000180815ENST00000338883p.E501Dc.1503A>CSubstitution - Missense
TAF1ENSG00000147133ENST00000449580p.P1292Pc.3876T>CSubstitution - coding silent
NAA35ENSG00000135040ENST00000416045p.N77Dc.229A>GSubstitution - Missense
CNTLNENSG00000044459ENST00000262360p.G71Gc.213G>CSubstitution - coding silent
FREM1ENSG00000164946ENST00000380894p.T254Tc.762C>TSubstitution - coding silent
ADAM28ENSG00000042980ENST00000437154p.T313Ac.937A>GSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.A36Ac.108G>TSubstitution - coding silent
PLECENSG00000178209ENST00000354589p.D3202Nc.9604G>ASubstitution - Missense
ENST00000328843_v70p.I2709Fc.8125A>TSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.P1836Rc.5507C>GSubstitution - Missense
CADPS2ENSG00000081803ENST00000313070p.?c.786+1G>AUnknown
COL9A1ENSG00000112280ENST00000370499p.V332Ic.994G>ASubstitution - Missense
MED23ENSG00000112282ENST00000403834p.G709Vc.2126G>TSubstitution - Missense
SLIT3ENSG00000184347ENST00000404867p.P306Lc.917C>TSubstitution - Missense
ENST00000402738_v70p.G919Gc.2757C>ASubstitution - coding silent
ZNF737ENSG00000237440ENST00000427401p.H215Yc.643C>TSubstitution - Missense
KDM6AENSG00000147050ENST00000382899p.F1116_N1124>*c.3347_3371>AGGGComplex - deletion inframe
COL7A1ENSG00000114270ENST00000328333p.A712Tc.2134G>ASubstitution - Missense
ENST00000314583_v70p.N376Nc.1128T>CSubstitution - coding silent
ENST00000314583_v70p.N376Hc.1126A>CSubstitution - Missense
THADAENSG00000115970ENST00000405975p.K1037Nc.3111A>TSubstitution - Missense
TRIP12ENSG00000153827ENST00000543084p.S79Sc.237A>GSubstitution - coding silent
COBLL1ENSG00000082438ENST00000194871p.P792Lc.2375C>TSubstitution - Missense
ENST00000263817_v70p.D482Hc.1444G>CSubstitution - Missense
RAPGEF4ENSG00000091428ENST00000264111p.V986Ic.2956G>ASubstitution - Missense
DBIENSG00000155368ENST00000542275p.?c.310+8G>AUnknown
DEPDC5ENSG00000100150ENST00000400242p.P421Ac.1261C>GSubstitution - Missense
DEPDC5ENSG00000100150ENST00000400246p.P421Ac.1261C>GSubstitution - Missense
DEPDC5ENSG00000100150ENST00000536766p.P393Ac.1177C>GSubstitution - Missense
C21orf59ENSG00000159079ENST00000540881p.I161Ic.483C>TSubstitution - coding silent
DZANK1ENSG00000089091ENST00000357236p.G446Gc.1338G>TSubstitution - coding silent
MYH14ENSG00000105357ENST00000440075p.A216Tc.646G>ASubstitution - Missense
CAMTA2ENSG00000108509ENST00000414043p.I576Ic.1728C>TSubstitution - coding silent
DIABLOENSG00000184047ENST00000443649p.S180Cc.539C>GSubstitution - Missense
TRPM5ENSG00000070985ENST00000155858p.P761Lc.2282C>TSubstitution - Missense
PLCB3ENSG00000149782ENST00000279230p.R255Cc.763C>TSubstitution - Missense
SETDB1ENSG00000143379ENST00000271640p.G777Vc.2330G>TSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.N1722Dc.5164A>GSubstitution - Missense
STXBP6ENSG00000168952ENST00000548369p.A57Tc.169G>ASubstitution - Missense
USP54ENSG00000166348ENST00000408019p.H1307Hc.3921T>CSubstitution - coding silent
C6orf132ENSG00000188112ENST00000356542p.R120*c.358C>TSubstitution - Nonsense
TRIM67ENSG00000119283ENST00000366653p.V657Mc.1969G>ASubstitution - Missense
ENST00000337072p.N181Nc.543C>TSubstitution - coding silent
PTPRSENSG00000105426ENST00000372412p.?c.722-6C>TUnknown
ENST00000373484_v70p.D338Nc.1012G>ASubstitution - Missense
PHLPP2ENSG00000040199ENST00000360429p.*957Rc.2869T>CNonstop extension
MCF2ENSG00000101977ENST00000370578p.?c.2491-9C>AUnknown
MED23ENSG00000112282ENST00000368068p.G703Vc.2108G>TSubstitution - Missense
COL9A1ENSG00000112280ENST00000320755p.V332Ic.994G>ASubstitution - Missense
DBIENSG00000155368ENST00000311521p.?c.178+8G>AUnknown
NDST4ENSG00000138653ENST00000264363p.T20Pc.58A>CSubstitution - Missense
CDH6ENSG00000113361ENST00000265071p.R773Lc.2318G>TSubstitution - Missense
HELQENSG00000163312ENST00000295488p.N949Nc.2847C>TSubstitution - coding silent
GPC1ENSG00000063660ENST00000264039p.E204Dc.612G>CSubstitution - Missense
VWA3BENSG00000168658ENST00000477737p.N934Kc.2802T>GSubstitution - Missense
ZSCAN10ENSG00000130182ENST00000252463p.S123Lc.368C>TSubstitution - Missense
CECR1ENSG00000093072ENST00000399837p.L28Pc.83T>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.R20012Hc.60035G>ASubstitution - Missense
SNX16ENSG00000104497ENST00000396330p.A202Gc.605C>GSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.T125Tc.375G>ASubstitution - coding silent
FAT3ENSG00000165323ENST00000298047p.P55Tc.163C>ASubstitution - Missense
IFITM3ENSG00000142089ENST00000399808p.T94Tc.282C>TSubstitution - coding silent
SLC37A4ENSG00000137700ENST00000330775p.Y412*c.1236C>ASubstitution - Nonsense
MFSD2AENSG00000168389ENST00000372811p.T232Tc.696C>ASubstitution - coding silent
NCDNENSG00000020129ENST00000373253p.G151Gc.453G>TSubstitution - coding silent
CCDC65ENSG00000139537ENST00000320516p.D173Dc.519T>CSubstitution - coding silent
AENENSG00000181026ENST00000379231p.R159Pc.476G>CSubstitution - Missense
TRIM6ENSG00000121236ENST00000380097p.N181Nc.543C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000413465p.Y163Cc.488A>GSubstitution - Missense
KIRRELENSG00000183853ENST00000368173p.R734Qc.2201G>ASubstitution - Missense
AGBL1ENSG00000166748ENST00000441037p.T689Tc.2067C>GSubstitution - coding silent
CNTLNENSG00000044459ENST00000380641p.G71Gc.213G>CSubstitution - coding silent
ENST00000314583_v70p.N376Tc.1127A>CSubstitution - Missense
RTP4ENSG00000136514ENST00000259030p.N117Sc.350A>GSubstitution - Missense
COL21A1ENSG00000124749ENST00000244728p.K538Ec.1612A>GSubstitution - Missense
HEXBENSG00000049860ENST00000261416p.Y184Hc.550T>CSubstitution - Missense
PHLDB2ENSG00000144824ENST00000412622p.K41fs*6c.120_123delAAAGDeletion - Frameshift
REPS2ENSG00000169891ENST00000357277p.T311Sc.931A>TSubstitution - Missense
FUT6ENSG00000156413ENST00000286955p.E172Dc.516G>TSubstitution - Missense
ZNF419ENSG00000105136ENST00000347466p.T381Ac.1141A>GSubstitution - Missense
KDM6AENSG00000147050ENST00000377967p.F1109_N1117>*c.3326_3350>AGGGComplex - deletion inframe
PLECENSG00000178209ENST00000354958p.T4344Ic.13031C>TSubstitution - Missense
GAREMENSG00000141441ENST00000269209p.L543Lc.1629G>ASubstitution - coding silent
DNAH12ENSG00000174844ENST00000311202p.F222Vc.664T>GSubstitution - Missense
ULK2ENSG00000083290ENST00000361658p.F24Yc.71T>ASubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.V612Mc.1834G>ASubstitution - Missense
TBC1D8BENSG00000133138ENST00000357242p.I363Lc.1087A>CSubstitution - Missense
WDR78ENSG00000152763ENST00000371026p.V410Vc.1230T>CSubstitution - coding silent
IRS2ENSG00000185950ENST00000375856p.G1250Vc.3749G>TSubstitution - Missense
TTC12ENSG00000149292ENST00000529221p.D256Gc.767A>GSubstitution - Missense
TRMT1LENSG00000121486ENST00000367506p.D99Yc.295G>TSubstitution - Missense
ZSCAN29ENSG00000140265ENST00000396976p.E204Kc.610G>ASubstitution - Missense
IFITM10ENSG00000244242ENST00000340134p.M8Tc.23T>CSubstitution - Missense
PPFIBP2ENSG00000166387ENST00000299492p.G844Sc.2530G>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000404857p.Q1013Lc.3038A>TSubstitution - Missense
NESENSG00000132688ENST00000368223p.G1433Gc.4299G>ASubstitution - coding silent
FOXRED1ENSG00000110074ENST00000263578p.S157Lc.470C>TSubstitution - Missense
UBAP2LENSG00000143569ENST00000343815p.T887Tc.2661G>ASubstitution - coding silent
MUC19ENSG00000205592ENST00000425730p.Y674Hc.2020T>CSubstitution - Missense
NOVA1ENSG00000139910ENST00000539517p.E462Vc.1385A>TSubstitution - Missense
RBM4ENSG00000173933ENST00000310092p.A338Tc.1012G>ASubstitution - Missense
TAF3ENSG00000165632ENST00000344293p.P157Sc.469C>TSubstitution - Missense
RRP12ENSG00000052749ENST00000370992p.S108Rc.322A>CSubstitution - Missense
TLR5ENSG00000187554ENST00000366881p.Q797Kc.2389C>ASubstitution - Missense
CR1ENSG00000203710ENST00000400960p.S916Rc.2748C>GSubstitution - Missense
ENST00000324457p.T131Tc.393C>TSubstitution - coding silent
PEX16ENSG00000121680ENST00000378750p.?c.695-7C>TUnknown
UBAP2LENSG00000143569ENST00000271877p.T898Tc.2694G>ASubstitution - coding silent
ZNF572ENSG00000180938ENST00000319286p.Q77Qc.231A>GSubstitution - coding silent
MYCNENSG00000134323ENST00000281043p.A334Tc.1000G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S123Fc.368C>TSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.L488Pc.1463T>CSubstitution - Missense
ENST00000349653p.S273Sc.819G>CSubstitution - coding silent
IQCB1ENSG00000173226ENST00000310864p.Y54Yc.162T>CSubstitution - coding silent
ENST00000344519_v61p.H214Yc.640C>TSubstitution - Missense
UGT1A6ENSG00000167165ENST00000305139p.P81Rc.242C>GSubstitution - Missense
CDH18ENSG00000145526ENST00000507958p.Y658Nc.1972T>ASubstitution - Missense
SLC4A5ENSG00000188687ENST00000377634p.I390Fc.1168A>TSubstitution - Missense
SLC27A5ENSG00000083807ENST00000263093p.G609Gc.1827G>ASubstitution - coding silent
PRR14LENSG00000183530ENST00000327423p.S425Nc.1274G>ASubstitution - Missense
PIK3R5ENSG00000141506ENST00000447110p.R287Rc.861G>ASubstitution - coding silent
DNAH12ENSG00000174844ENST00000351747p.F222Vc.664T>GSubstitution - Missense
ADAM28ENSG00000042980ENST00000265769p.T313Ac.937A>GSubstitution - Missense
ITIH3ENSG00000162267ENST00000449956p.S514Gc.1540A>GSubstitution - Missense
GNA15ENSG00000060558ENST00000262958p.L257fs*46c.768_769insTInsertion - Frameshift
NCAM1ENSG00000149294ENST00000401611p.D333Nc.997G>ASubstitution - Missense
KIAA1377ENSG00000110318ENST00000263468p.N965Dc.2893A>GSubstitution - Missense
C1QTNF8ENSG00000184471ENST00000328449p.P32Pc.96G>ASubstitution - coding silent
YBX1ENSG00000065978ENST00000321358p.P250Lc.749C>TSubstitution - Missense
CHRNA3ENSG00000080644ENST00000326828p.H329Hc.987C>TSubstitution - coding silent
C6orf132ENSG00000188112ENST00000341865p.R120*c.358C>TSubstitution - Nonsense
WDR96ENSG00000197748ENST00000357060p.T1115Kc.3344C>ASubstitution - Missense
DLGAP1ENSG00000170579ENST00000581527p.A168Ac.504C>GSubstitution - coding silent
LATS1ENSG00000131023ENST00000253339p.K724*c.2170A>TSubstitution - Nonsense
RINLENSG00000187994ENST00000591812p.H198Rc.593A>GSubstitution - Missense
NBEAENSG00000172915ENST00000400445p.I1294Vc.3880A>GSubstitution - Missense
MEGF8ENSG00000105429ENST00000334370p.?c.1390+6G>AUnknown
RHAGENSG00000112077ENST00000371175p.L68Fc.202C>TSubstitution - Missense
RND3ENSG00000115963ENST00000263895p.D232fs*>11c.694_701delGACTTACGDeletion - Frameshift
MTMR1ENSG00000063601ENST00000370390p.?c.423+10T>CUnknown
COBLENSG00000106078ENST00000265136p.Q693Kc.2077C>ASubstitution - Missense
ENST00000237177p.H886Lc.2657A>TSubstitution - Missense
EIF1ENSG00000173812ENST00000469257p.S9Fc.26C>TSubstitution - Missense
VAV2ENSG00000160293ENST00000371850p.G168Gc.504G>ASubstitution - coding silent
TOPBP1ENSG00000163781ENST00000260810p.P169Pc.507C>ASubstitution - coding silent
NM_007027.2p.P82Pc.246C>ASubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.C3632Wc.10896T>GSubstitution - Missense
MRPS9ENSG00000135972ENST00000258455p.Q366Lc.1097A>TSubstitution - Missense
DYSFENSG00000135636ENST00000258104p.?c.145-1G>AUnknown
NFKB1ENSG00000109320ENST00000226574p.P855Sc.2563C>TSubstitution - Missense
SSC5DENSG00000179954ENST00000389623p.V1079Vc.3237T>GSubstitution - coding silent
ZFP28ENSG00000196867ENST00000301318p.V179Mc.535G>ASubstitution - Missense
SAMSN1ENSG00000155307ENST00000400566p.?c.769-9G>TUnknown
ENST00000356127p.R26315Hc.78944G>ASubstitution - Missense
ENST00000377989p.P295Ac.883C>GSubstitution - Missense
IRX3ENSG00000177508ENST00000329734p.V481Mc.1441G>ASubstitution - Missense
GLIS3ENSG00000107249ENST00000381971p.R663Lc.1988G>TSubstitution - Missense
ITGB4ENSG00000132470ENST00000200181p.V991Vc.2973G>ASubstitution - coding silent
TMCO3ENSG00000150403ENST00000434316p.E321Dc.963G>CSubstitution - Missense
MAPK6ENSG00000069956ENST00000261845p.C436Cc.1308T>CSubstitution - coding silent
ARMC3ENSG00000165309ENST00000298032p.V455Ac.1364T>CSubstitution - Missense
DRAM2ENSG00000156171ENST00000286692p.R228Sc.682C>ASubstitution - Missense
NLRX1ENSG00000160703ENST00000292199p.L525Lc.1575C>TSubstitution - coding silent
NBEAENSG00000172915ENST00000310336p.I1294Vc.3880A>GSubstitution - Missense
PLCZ1ENSG00000139151ENST00000266505p.G439Cc.1315G>TSubstitution - Missense
IKZF4ENSG00000123411ENST00000262032p.?c.875-10T>GUnknown
PLECENSG00000178209ENST00000356346p.D3188Nc.9562G>ASubstitution - Missense
CABLES1ENSG00000134508ENST00000420687p.D199Hc.595G>CSubstitution - Missense
CCDC144AENSG00000170160ENST00000456009p.T1092Ac.3274A>GSubstitution - Missense
WDR20ENSG00000140153ENST00000454394p.N68Sc.203A>GSubstitution - Missense
MYT1LENSG00000186487ENST00000428368p.R556Rc.1668C>TSubstitution - coding silent
MYRFLENSG00000166268ENST00000299350p.A250Tc.748G>ASubstitution - Missense
IGF2BP2ENSG00000073792ENST00000382199p.A335Sc.1003G>TSubstitution - Missense
ILVBLENSG00000105135ENST00000263383p.S629Pc.1885T>CSubstitution - Missense
MEGF8ENSG00000105429ENST00000251268p.?c.13+6G>AUnknown
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
ANKHD1ENSG00000131503ENST00000360839p.T1910Rc.5729C>GSubstitution - Missense
MPOENSG00000005381ENST00000340482p.E197Kc.589G>ASubstitution - Missense
LGSNENSG00000146166ENST00000485906p.L243Rc.728T>GSubstitution - Missense
ZNF662ENSG00000182983ENST00000440367p.G226Rc.676G>ASubstitution - Missense
ENST00000381114p.K2248Nc.6744G>CSubstitution - Missense
FAM47AENSG00000185448ENST00000346193p.A123Tc.367G>ASubstitution - Missense
NRG1ENSG00000157168ENST00000520407p.G233Gc.699C>TSubstitution - coding silent
ZSCAN5CENSG00000204532ENST00000534327p.N387fs*29c.1160_1161insAInsertion - Frameshift
RNASET2ENSG00000026297ENST00000508775p.R109Hc.326G>ASubstitution - Missense
HGSENSG00000185359ENST00000329138p.?c.662+10C>TUnknown
HMGN1ENSG00000205581ENST00000361263p.T150fs*6c.448_451delACTGDeletion - Frameshift
RLN1ENSG00000107018ENST00000223862p.V73Vc.219A>CSubstitution - coding silent
ZMYM5ENSG00000132950ENST00000337963p.D30Nc.88G>ASubstitution - Missense
FMO5ENSG00000131781ENST00000254090p.L213Fc.637C>TSubstitution - Missense
EP400ENSG00000183495ENST00000389561p.P659Lc.1976C>TSubstitution - Missense
HAGHENSG00000063854ENST00000397353p.E64Kc.190G>ASubstitution - Missense
SPAG17ENSG00000155761ENST00000336338p.E1479Kc.4435G>ASubstitution - Missense
NM_002779.2p.H605Hc.1815C>TSubstitution - coding silent
TEP1ENSG00000129566ENST00000262715p.D2259Gc.6776A>GSubstitution - Missense
CDK11BENSG00000248333ENST00000407249p.P670Pc.2010C>GSubstitution - coding silent
ENSG00000143674ENST00000366624p.R553Gc.1657C>GSubstitution - Missense
KCNMA1ENSG00000156113ENST00000406533p.Q1034Lc.3101A>TSubstitution - Missense
TGIF1ENSG00000177426ENST00000548489p.D224Vc.671A>TSubstitution - Missense
AGBL1ENSG00000166748ENST00000441037p.R549Wc.1645C>TSubstitution - Missense
AP1G1ENSG00000166747ENST00000433195p.F419Fc.1257T>CSubstitution - coding silent
ZSCAN1ENSG00000152467ENST00000391700p.P11Pc.33C>GSubstitution - coding silent
THADAENSG00000115970ENST00000330266p.K747Nc.2241A>TSubstitution - Missense
OR52A1ENSG00000182070ENST00000380367p.G202Sc.604G>ASubstitution - Missense
TTC12ENSG00000149292ENST00000314756p.D256Gc.767A>GSubstitution - Missense
MCRS1ENSG00000187778ENST00000550165p.T364Nc.1091C>ASubstitution - Missense
PLA2R1ENSG00000153246ENST00000283243p.W749fs*14c.2245delTDeletion - Frameshift
AP1G1ENSG00000166747ENST00000299980p.F396Fc.1188T>CSubstitution - coding silent
ZNF780BENSG00000128000ENST00000434248p.P90Ac.268C>GSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.L133Fc.397C>TSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.L133Fc.397C>TSubstitution - Missense
PSMD8ENSG00000099341ENST00000215071p.A253Tc.757G>ASubstitution - Missense
NM_004726.1p.T172Sc.514A>TSubstitution - Missense
HERC3ENSG00000138641ENST00000402738p.G919Gc.2757C>ASubstitution - coding silent
CASD1ENSG00000127995ENST00000297273p.V309Fc.925G>TSubstitution - Missense
ZNF655ENSG00000197343ENST00000424881p.S160Gc.478A>GSubstitution - Missense
MROH1ENSG00000179832ENST00000528919p.P347Sc.1039C>TSubstitution - Missense
ENST00000318252p.C2467Fc.7400G>TSubstitution - Missense
FN1ENSG00000115414ENST00000336916p.D1552fs*23c.4653delCDeletion - Frameshift
SAMD14ENSG00000167100ENST00000503131p.F295Fc.885C>TSubstitution - coding silent
MYBBP1AENSG00000132382ENST00000254718p.?c.198+4G>CUnknown
DZANK1ENSG00000089091ENST00000262547p.G560Gc.1680G>TSubstitution - coding silent
ENST00000234668p.R154Rc.462T>CSubstitution - coding silent
C1orf173ENSG00000178965ENST00000326665p.T335Ic.1004C>TSubstitution - Missense
ENST00000313929p.Q182fs*6c.541_542insTAInsertion - Frameshift
CBX4ENSG00000141582ENST00000269397p.P186Pc.558G>ASubstitution - coding silent
ALOX15BENSG00000179593ENST00000380183p.T358Tc.1074C>TSubstitution - coding silent
MAFGENSG00000197063ENST00000357736p.T120Tc.360G>ASubstitution - coding silent
KIAA1107ENSG00000069712ENST00000370378p.D706Gc.2117A>GSubstitution - Missense
MAST2ENSG00000086015ENST00000372008p.R47Lc.140G>TSubstitution - Missense
STRIP1ENSG00000143093ENST00000369795p.A546Ac.1638G>ASubstitution - coding silent
HTATIP2ENSG00000109854ENST00000419348p.R212Pc.635G>CSubstitution - Missense
HTATIP2ENSG00000109854ENST00000421577p.R178Pc.533G>CSubstitution - Missense
CSTF2TENSG00000177613ENST00000331173p.A333Ac.999T>CSubstitution - coding silent
PLCB3ENSG00000149782ENST00000279230p.S618Lc.1853C>TSubstitution - Missense
GPR12ENSG00000132975ENST00000381436p.T135Ac.403A>GSubstitution - Missense
TNRENSG00000116147ENST00000367674p.T1278Kc.3833C>ASubstitution - Missense
ZIC5ENSG00000139800ENST00000267294p.P422_P424delPPPc.1254_1262delGCCGCCGCCDeletion - In frame
IL16ENSG00000172349ENST00000302987p.T763Tc.2289C>TSubstitution - coding silent
NM_014903.3p.V339Vc.1017C>GSubstitution - coding silent
MADDENSG00000110514ENST00000311027p.?c.3416-7T>CUnknown
DNAJC5ENSG00000101152ENST00000360864p.G174Sc.520G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.T125Tc.375G>ASubstitution - coding silent
FUT6ENSG00000156413ENST00000592563p.E172Dc.516G>TSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.P695Lc.2084C>TSubstitution - Missense
GPR50ENSG00000102195ENST00000218316p.P315Hc.944C>ASubstitution - Missense
NOS3ENSG00000164867ENST00000297494p.G843Rc.2527G>CSubstitution - Missense
TFAP2AENSG00000137203ENST00000379608p.T304Tc.912C>TSubstitution - coding silent
TAF1ENSG00000147133ENST00000373790p.P1292Pc.3876T>CSubstitution - coding silent
AP3D1ENSG00000065000ENST00000355272p.?c.2680-8C>TUnknown
TRIP12ENSG00000153827ENST00000283943p.S37Sc.111A>GSubstitution - coding silent
ZNF879ENSG00000234284ENST00000444149p.D18Nc.52G>ASubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.F4642Lc.13926C>GSubstitution - Missense
ZNF419ENSG00000105136ENST00000424930p.T414Ac.1240A>GSubstitution - Missense
DYSFENSG00000135636ENST00000410020p.?c.148-1G>AUnknown
SRCIN1ENSG00000017373ENST00000264659p.G554Vc.1661G>TSubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.H945Yc.2833C>TSubstitution - Missense
SLX4IPENSG00000149346ENST00000334534p.I85fs*40c.254_266del13Deletion - Frameshift
ACOT1ENSG00000184227ENST00000311148p.G262Gc.786G>TSubstitution - coding silent
CSMD2ENSG00000121904ENST00000373381p.L3422Lc.10266G>ASubstitution - coding silent
SORCS1ENSG00000108018ENST00000263054p.I941Tc.2822T>CSubstitution - Missense
TCN1ENSG00000134827ENST00000257264p.N47Sc.140A>GSubstitution - Missense
AGBL1ENSG00000166748ENST00000421325p.R549Wc.1645C>TSubstitution - Missense
TNFRSF1AENSG00000067182ENST00000162749p.V288Mc.862G>ASubstitution - Missense
ITGA7ENSG00000135424ENST00000257879p.P251Sc.751C>TSubstitution - Missense
CUX2ENSG00000111249ENST00000261726p.P102Pc.306C>TSubstitution - coding silent
RXRGENSG00000143171ENST00000359842p.R317Cc.949C>TSubstitution - Missense
PPAPDC3ENSG00000160539ENST00000372261p.S38*c.113C>ASubstitution - Nonsense
ENST00000378024_v70p.A3668Vc.11003C>TSubstitution - Missense
RNF220ENSG00000187147ENST00000443020p.T64Sc.191C>GSubstitution - Missense
ZNF280DENSG00000137871ENST00000396245p.R325Rc.975G>CSubstitution - coding silent
KSR2ENSG00000171435ENST00000339824p.R463Qc.1388G>ASubstitution - Missense
CCNOENSG00000152669ENST00000282572p.A312Pc.934G>CSubstitution - Missense
ABCB5ENSG00000004846ENST00000404938p.K28Ec.82A>GSubstitution - Missense
ENST00000319396p.K1583delKc.4745_4747delAGADeletion - In frame
MCF2ENSG00000101977ENST00000370573p.?c.2056-9C>AUnknown
GAL3ST4ENSG00000197093ENST00000360039p.S17Rc.49A>CSubstitution - Missense
OR1D5ENSG00000262628ENST00000575751p.L184Lc.552G>CSubstitution - coding silent
MFAP3ENSG00000037749ENST00000322602p.H176Yc.526C>TSubstitution - Missense
OTUD4ENSG00000164164ENST00000454497p.P722Lc.2165C>TSubstitution - Missense
ARHGAP28ENSG00000088756ENST00000314319p.?c.66+6T>CUnknown
TM4SF1ENSG00000169908ENST00000305366p.L140Vc.418C>GSubstitution - Missense
MED14ENSG00000180182ENST00000324817p.Q547Qc.1641A>GSubstitution - coding silent
IQCGENSG00000114473ENST00000265239p.N79Yc.235A>TSubstitution - Missense
ALS2CR11ENSG00000155754ENST00000286195p.H119Rc.356A>GSubstitution - Missense
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
SLC4A4ENSG00000080493ENST00000340595p.I523Vc.1567A>GSubstitution - Missense
SLC39A14ENSG00000104635ENST00000359741p.L5Lc.15G>CSubstitution - coding silent
ENST00000521988_v68p.?c.148-10T>CUnknown
TGIF1ENSG00000177426ENST00000330513p.D339Vc.1016A>TSubstitution - Missense
HAGHENSG00000063854ENST00000397356p.E112Kc.334G>ASubstitution - Missense
LRIF1ENSG00000121931ENST00000369763p.T699Ic.2096C>TSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.V4327Mc.12979G>ASubstitution - Missense
SDF4ENSG00000078808ENST00000263741p.A300Ac.900C>TSubstitution - coding silent
ABCC8ENSG00000006071ENST00000389817p.D1038Nc.3112G>ASubstitution - Missense
AGBL1ENSG00000166748ENST00000421325p.T689Tc.2067C>GSubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.I2368Rc.7103T>GSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.T125Tc.375G>ASubstitution - coding silent
FREM1ENSG00000164946ENST00000422223p.T1718Tc.5154C>TSubstitution - coding silent
RBFAENSG00000101546ENST00000306735p.L259Lc.777C>TSubstitution - coding silent
MAPK7ENSG00000166484ENST00000308406p.G622Sc.1864G>ASubstitution - Missense
GABRA2ENSG00000151834ENST00000540012p.L433Fc.1299G>CSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.I2368Rc.7103T>GSubstitution - Missense
AGBL1ENSG00000166748ENST00000389298p.R280Wc.838C>TSubstitution - Missense
ENST00000319396p.K1583delKc.4745_4747delAGADeletion - In frame
ZNF780BENSG00000128000ENST00000434248p.P90Ac.268C>GSubstitution - Missense
ENPP1ENSG00000197594ENST00000360971p.A113Ac.339C>TSubstitution - coding silent
CNTLNENSG00000044459ENST00000380647p.G71Gc.213G>CSubstitution - coding silent
ZNF714ENSG00000160352ENST00000291770p.H211Yc.631C>TSubstitution - Missense
ENST00000330166p.T4404Tc.13212C>TSubstitution - coding silent
SAMSN1ENSG00000155307ENST00000285670p.?c.973-9G>TUnknown
ZBTB46ENSG00000130584ENST00000245663p.D123Nc.367G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.R16911Rc.50733T>CSubstitution - coding silent
ENST00000278882_v61p.I126Vc.376A>GSubstitution - Missense
PLECENSG00000178209ENST00000436759p.D3229Nc.9685G>ASubstitution - Missense
ENST00000318252p.R2440Qc.7319G>ASubstitution - Missense
SLC18A1ENSG00000036565ENST00000276373p.V23Vc.69G>ASubstitution - coding silent
MMP16ENSG00000156103ENST00000286614p.?c.709+1G>TUnknown
PTPRGENSG00000144724ENST00000474889p.Y132Yc.396T>CSubstitution - coding silent
C1orf172ENSG00000175707ENST00000320567p.E294Vc.881A>TSubstitution - Missense
DZANK1ENSG00000089091ENST00000377630p.G393Gc.1179G>TSubstitution - coding silent
MACF1ENSG00000127603ENST00000360115p.T786Ac.2356A>GSubstitution - Missense
GABPB2ENSG00000143458ENST00000368918p.K329Kc.987G>ASubstitution - coding silent
SYNCENSG00000162520ENST00000373484p.D7Nc.19G>ASubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.L3278Lc.9834G>ASubstitution - coding silent
AHNAKENSG00000124942ENST00000378024p.A3668Vc.11003C>TSubstitution - Missense
MADDENSG00000110514ENST00000311027p.?c.4159-2A>GUnknown
CSPG4ENSG00000173546ENST00000308508p.T955Pc.2863A>CSubstitution - Missense
NM_001004342.2p.V657Mc.1969G>ASubstitution - Missense
ENST00000414315p.Y31Cc.92A>GSubstitution - Missense
ENST00000373722p.R175*c.523C>TSubstitution - Nonsense
ENST00000328843_v70p.V2280Ic.6838G>ASubstitution - Missense
PLECENSG00000178209ENST00000356346p.T4352Ic.13055C>TSubstitution - Missense
RNF220ENSG00000187147ENST00000335497p.T19Sc.56C>GSubstitution - Missense
COL27A1ENSG00000196739ENST00000356083p.A595Ac.1785G>ASubstitution - coding silent
KCNMA1ENSG00000156113ENST00000354353p.Q1033Lc.3098A>TSubstitution - Missense
HMGB2ENSG00000164104ENST00000296503p.P95Pc.285T>CSubstitution - coding silent
CWH43ENSG00000109182ENST00000226432p.A530Ac.1590C>TSubstitution - coding silent
WFDC12ENSG00000168703ENST00000372785p.S103Fc.308C>TSubstitution - Missense
LPHN1ENSG00000072071ENST00000340736p.G1388Rc.4162G>ASubstitution - Missense
WDR87ENSG00000171804ENST00000303868p.K1894*c.5680A>TSubstitution - Nonsense
TTC14ENSG00000163728ENST00000296015p.S79Tc.235T>ASubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.V2687Vc.8061T>ASubstitution - coding silent
TFAP2AENSG00000137203ENST00000379604p.T310Tc.930C>TSubstitution - coding silent
PLEKHB2ENSG00000115762ENST00000404460p.T153Tc.459C>TSubstitution - coding silent
GGA3ENSG00000125447ENST00000245541p.A476Ac.1428C>TSubstitution - coding silent
CCNB3ENSG00000147082ENST00000376042p.S1071Fc.3212C>TSubstitution - Missense
ENST00000405167p.S1770Sc.5310C>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.W25930Rc.77788T>ASubstitution - Missense
NLRP2ENSG00000022556ENST00000543010p.P968Pc.2904G>TSubstitution - coding silent
SLC17A3ENSG00000124564ENST00000360657p.S102Yc.305C>ASubstitution - Missense
MROH1ENSG00000179832ENST00000423230p.P347Sc.1039C>TSubstitution - Missense
GABRA2ENSG00000151834ENST00000356504p.L428Fc.1284G>CSubstitution - Missense
ENSG00000088899ENST00000329152p.E346Qc.1036G>CSubstitution - Missense
ENST00000356127p.R16909Rc.50727T>CSubstitution - coding silent
ARHGEF10ENSG00000104728ENST00000349830p.E492Kc.1474G>ASubstitution - Missense
MFSD3ENSG00000167700ENST00000301327p.L349Pc.1046T>CSubstitution - Missense
PLECENSG00000178209ENST00000345136p.T4366Ic.13097C>TSubstitution - Missense
SEBOX,VTNENSG00000109072ENST00000226218p.?c.65-8C>TUnknown
PTGISENSG00000124212ENST00000244043p.E314*c.940G>TSubstitution - Nonsense
TBC1D8BENSG00000133138ENST00000310452p.I363Lc.1087A>CSubstitution - Missense
SYT3ENSG00000213023ENST00000338916p.D48Nc.142G>ASubstitution - Missense
ZNF562ENSG00000171466ENST00000293648p.F141Fc.423T>CSubstitution - coding silent
FMO5ENSG00000131781ENST00000441068p.L213Fc.637C>TSubstitution - Missense
ZNF488ENSG00000165388ENST00000395702p.G270Vc.809G>TSubstitution - Missense
C1orf167ENSG00000215910ENST00000433342p.S1299Nc.3896G>ASubstitution - Missense
INPPL1ENSG00000165458ENST00000298229p.R598Cc.1792C>TSubstitution - Missense
TMEM63AENSG00000196187ENST00000366835p.G759Dc.2276G>ASubstitution - Missense
SIRT2ENSG00000068903ENST00000249396p.C195Cc.585C>TSubstitution - coding silent
DBIENSG00000155368ENST00000535617p.?c.253+8G>AUnknown
KIF16BENSG00000089177ENST00000450176p.X1Xc.2C>TSubstitution - coding silent
YBX1ENSG00000065978ENST00000436427p.P300Sc.898C>TSubstitution - Missense
GREB1ENSG00000196208ENST00000381486p.A341Sc.1021G>TSubstitution - Missense
ADAT2ENSG00000189007ENST00000237283p.D82Dc.246T>CSubstitution - coding silent
TANGO2ENSG00000183597ENST00000456048p.D252Ec.756C>ASubstitution - Missense
RUNX1ENSG00000159216ENST00000486278p.R187Qc.560G>ASubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.T250Tc.750A>TSubstitution - coding silent
GOLGA8AENSG00000175265ENST00000432566p.G60Ec.179G>ASubstitution - Missense
NRD1ENSG00000078618ENST00000354831p.F555Fc.1665T>CSubstitution - coding silent
DEPDC7ENSG00000121690ENST00000241051p.A101Ac.303G>ASubstitution - coding silent
SETDB1ENSG00000143379ENST00000271640p.G777Vc.2330G>TSubstitution - Missense
NBEAENSG00000172915ENST00000310336p.A2085Ac.6255A>TSubstitution - coding silent
SNRPNENSG00000128739ENST00000400100p.A157Vc.470C>TSubstitution - Missense
ABHD4ENSG00000100439ENST00000428304p.A318Ac.954C>GSubstitution - coding silent
PPP6R3ENSG00000110075ENST00000529710p.R220Cc.658C>TSubstitution - Missense
TBCEENSG00000116957ENST00000543662p.V111_T113>Ac.332_337delTGGAGAComplex - deletion inframe
CSKENSG00000103653ENST00000220003p.K125Kc.375G>ASubstitution - coding silent
SART3ENSG00000075856ENST00000228284p.Q136Kc.406C>ASubstitution - Missense
SCELENSG00000136155ENST00000349847p.R101Rc.301A>CSubstitution - coding silent
ASIC4ENSG00000072182ENST00000358078p.R325Hc.974G>ASubstitution - Missense
MPDZENSG00000107186ENST00000319217p.L1523Lc.4569C>GSubstitution - coding silent
PLECENSG00000178209ENST00000354589p.T4366Ic.13097C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.Y163Cc.488A>GSubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.R2246Hc.6737G>ASubstitution - Missense
ENST00000377993p.P295Ac.883C>GSubstitution - Missense
ENST00000266505_v70p.G439Cc.1315G>TSubstitution - Missense
KIAA1107ENSG00000069712ENST00000409154p.D761Gc.2282A>GSubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.K1794Ec.5380A>GSubstitution - Missense
ARMC3ENSG00000165309ENST00000409049p.V455Ac.1364T>CSubstitution - Missense
SPDL1ENSG00000040275ENST00000265295p.L94Sc.281T>CSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Ac.418T>GSubstitution - Missense
ENST00000539307p.L170Fc.508C>TSubstitution - Missense
CTTNBP2ENSG00000077063ENST00000160373p.A917Ac.2751C>ASubstitution - coding silent
RINLENSG00000187994ENST00000340740p.H84Rc.251A>GSubstitution - Missense
ENST00000450194p.E1332Ec.3996G>ASubstitution - coding silent
NM_004224.1p.P315Hc.944C>ASubstitution - Missense
GCNT6ENSG00000205318ENST00000417671p.W117Lc.350G>TSubstitution - Missense
TAF1ENSG00000147133ENST00000276072p.P1313Pc.3939T>CSubstitution - coding silent
ZNF714ENSG00000160352ENST00000291770p.H316Yc.946C>TSubstitution - Missense
ENST00000331219p.G136Gc.408C>TSubstitution - coding silent
NM_181334.1p.Y199Yc.597C>TSubstitution - coding silent
ENST00000391338_v68p.E367Kc.1099G>ASubstitution - Missense
CNOT3ENSG00000088038ENST00000221232p.Q615*c.1843C>TSubstitution - Nonsense
HECW2ENSG00000138411ENST00000260983p.T1106Tc.3318C>TSubstitution - coding silent
NM_007023.1p.V987Ic.2959G>ASubstitution - Missense
PLECENSG00000178209ENST00000322810p.D3339Nc.10015G>ASubstitution - Missense
C21orf59ENSG00000159079ENST00000290155p.I217Ic.651C>TSubstitution - coding silent
SETDB1ENSG00000143379ENST00000498193p.G777Vc.2330G>TSubstitution - Missense
ENST00000340134_v70p.M106Tc.317T>CSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.Q2856Pc.8567A>CSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.T125Tc.375G>ASubstitution - coding silent
ZNF221ENSG00000159905ENST00000251269p.Y459Cc.1376A>GSubstitution - Missense
ENST00000316490_v65p.E2294Dc.6882G>CSubstitution - Missense
FZD2ENSG00000180340ENST00000315323p.G159Ac.476G>CSubstitution - Missense
TFAP2AENSG00000137203ENST00000319516p.T306Tc.918C>TSubstitution - coding silent
MAN1B1ENSG00000177239ENST00000371589p.A260Gc.779C>GSubstitution - Missense
WNT7BENSG00000188064ENST00000339464p.G204Sc.610G>ASubstitution - Missense
NM_152536.2p.S79Yc.236C>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.R10539Rc.31617T>CSubstitution - coding silent
NCAPHENSG00000121152ENST00000240423p.R313Cc.937C>TSubstitution - Missense
SETD5ENSG00000168137ENST00000402198p.?c.1441-7C>GUnknown
DOK2ENSG00000147443ENST00000276420p.H165Hc.495C>TSubstitution - coding silent
STAG2ENSG00000101972ENST00000371160p.Q924Pc.2771A>CSubstitution - Missense
UBAP2LENSG00000143569ENST00000361546p.T887Tc.2661G>ASubstitution - coding silent
TPH2ENSG00000139287ENST00000333850p.?c.1164+7A>GUnknown
PRCPENSG00000137509ENST00000313010p.I221Mc.663C>GSubstitution - Missense
DEPDC7ENSG00000121690ENST00000311388p.A92Ac.276G>ASubstitution - coding silent
NM_002301.2p.V31Ic.91G>ASubstitution - Missense
GFRA1ENSG00000151892ENST00000369236p.S105Ic.314G>TSubstitution - Missense
MFAP5ENSG00000197614ENST00000359478p.R115Cc.343C>TSubstitution - Missense
ENST00000395215p.E194Gc.581A>GSubstitution - Missense
ITGA5ENSG00000161638ENST00000293379p.G556Ec.1667G>ASubstitution - Missense
HLA-DRB1ENSG00000196126ENST00000360004p.A87Dc.260C>ASubstitution - Missense
MAGEC1ENSG00000155495ENST00000285879p.T384Tc.1152T>ASubstitution - coding silent
XM_499251.1p.E465Ec.1395G>ASubstitution - coding silent
LMNB1ENSG00000113368ENST00000261366p.E446*c.1336G>TSubstitution - Nonsense
COL9A1ENSG00000112280ENST00000357250p.V575Ic.1723G>ASubstitution - Missense
ARHGAP8ENSG00000241484ENST00000389774p.Y194Yc.582C>TSubstitution - coding silent
ZSCAN1ENSG00000152467ENST00000282326p.P11Pc.33C>GSubstitution - coding silent
EPB41L4AENSG00000129595ENST00000261486p.N217Dc.649A>GSubstitution - Missense
ZNF415ENSG00000170954ENST00000243643p.V252Ic.754G>ASubstitution - Missense
ACSF3ENSG00000176715ENST00000317447p.C139Yc.416G>ASubstitution - Missense
ALS2CR11ENSG00000155754ENST00000450242p.H119Rc.356A>GSubstitution - Missense
EFNA2ENSG00000099617ENST00000215368p.Y89Yc.267C>TSubstitution - coding silent
ENST00000250872p.S959Fc.2876C>TSubstitution - Missense
FN1ENSG00000115414ENST00000354785p.D1643fs*23c.4926delCDeletion - Frameshift
OSMRENSG00000145623ENST00000274276p.D498fs*10c.1490delTDeletion - Frameshift
FAT3ENSG00000165323ENST00000409404p.P3480Tc.10438C>ASubstitution - Missense
RFX7ENSG00000181827ENST00000423270p.V1127Mc.3379G>ASubstitution - Missense
LEPRE1ENSG00000117385ENST00000236040p.G357Gc.1071C>TSubstitution - coding silent
SPG20ENSG00000133104ENST00000355182p.Y577Nc.1729T>ASubstitution - Missense
NM_004667.3p.?c.3391+8T>CUnknown
PSDENSG00000059915ENST00000020673p.H820Hc.2460C>TSubstitution - coding silent
STXBP6ENSG00000168952ENST00000358326p.A159Tc.475G>ASubstitution - Missense
OR10G7ENSG00000182634ENST00000330487p.F256Sc.767T>CSubstitution - Missense
MCRS1ENSG00000187778ENST00000357123p.T377Nc.1130C>ASubstitution - Missense
IKZF4ENSG00000123411ENST00000262032p.?c.998-10T>GUnknown
CDK4ENSG00000135446ENST00000257904p.L161Lc.481C>TSubstitution - coding silent
THADAENSG00000115970ENST00000330266p.E748delEc.2243_2245delAAGDeletion - In frame
TRIM22ENSG00000132274ENST00000379965p.S376Rc.1128T>GSubstitution - Missense
PKHD1ENSG00000170927ENST00000340994p.A3079Vc.9236C>TSubstitution - Missense
AGR3ENSG00000173467ENST00000310398p.?c.303+6_303+7ins11Unknown
TTC14ENSG00000163728ENST00000382584p.S79Tc.235T>ASubstitution - Missense
EYSENSG00000188107ENST00000342421p.P94Pc.282A>GSubstitution - coding silent
CUX1ENSG00000257923ENST00000292535p.L1032Lc.3096C>GSubstitution - coding silent
PTPN12ENSG00000127947ENST00000248594p.S684Sc.2052G>ASubstitution - coding silent
NM_020340.2p.S1742Rc.5226C>GSubstitution - Missense
C19orf18ENSG00000177025ENST00000314391p.?c.372-10C>TUnknown
NM_152536.2p.A573Ac.1719A>GSubstitution - coding silent
SF3B1ENSG00000115524ENST00000335508p.L1208Qc.3623T>ASubstitution - Missense
PTPRSENSG00000105426ENST00000357368p.?c.719-6C>TUnknown


COSMIC

14 mutations reported
6 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
FBXW7ENSG00000109670ENST00000281708p.?c.?_?del?Unknown17515920
NOTCH1ENSG00000148400ENST00000277541p.L1600Pc.4799T>CSubstitution - Missense17515920
FBXW7ENSG00000109670ENST00000281708p.?c.?_?del?Unknown17646409
TP53ENSG00000141510ENST00000269305p.Y163Cc.488A>GSubstitution - Missense22675565
TP53ENSG00000141510ENST00000413465p.Y163Cc.488A>GSubstitution - Missense22675565
NOTCH1ENSG00000148400ENST00000277541p.L1600Pc.4799T>CSubstitution - Missense22675565
ENST00000414315p.Y31Cc.92A>GSubstitution - Missense22675565
ENST00000545858p.Y70Cc.209A>GSubstitution - Missense22675565
CDK4ENSG00000135446ENST00000257904p.L161Lc.481C>TSubstitution - coding silent22675565
TP53ENSG00000141510ENST00000269305p.T125Tc.375G>ASubstitution - coding silent22675565
NOTCH1ENSG00000148400ENST00000277541p.L1600Pc.4799T>CSubstitution - Missense22675565
TP53ENSG00000141510ENST00000269305p.T125Tc.375G>ASubstitution - coding silent22675565
TP53ENSG00000141510ENST00000413465p.T125Tc.375G>ASubstitution - coding silent22675565
TP53ENSG00000141510ENST00000269305p.Y163Cc.488A>GSubstitution - Missense22675565