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Copy Number Variation
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TGBC1TKB - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

771 mutations reported
275 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
MRPS30ENSG00000112996ENST00000507110p.N427Ic.1280A>TSubstitution - Missense
RNF44ENSG00000146083ENST00000274811p.S143Gc.427A>GSubstitution - Missense
TRPM6ENSG00000119121ENST00000449912p.V1781Ic.5341G>ASubstitution - Missense
HRNRENSG00000197915ENST00000368801p.S967Pc.2899T>CSubstitution - Missense
LRIG2ENSG00000198799ENST00000361127p.R647Qc.1940G>ASubstitution - Missense
SLC25A24ENSG00000085491ENST00000370041p.D31Vc.92A>TSubstitution - Missense
ENST00000391979_v68p.M77Ic.231G>CSubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.T553fs*15c.1650delADeletion - Frameshift
BCAR1ENSG00000050820ENST00000393420p.R561Wc.1681C>TSubstitution - Missense
CCDC141ENSG00000163492ENST00000420890p.G1453Rc.4357G>ASubstitution - Missense
CERKLENSG00000188452ENST00000410087p.S371Nc.1112G>ASubstitution - Missense
CCDC180ENSG00000197816ENST00000375202p.F883Fc.2649C>TSubstitution - coding silent
OSBPL6ENSG00000079156ENST00000392505p.T288Sc.863C>GSubstitution - Missense
SAMD9ENSG00000205413ENST00000379958p.G952Ac.2855G>CSubstitution - Missense
MAML1ENSG00000161021ENST00000292599p.S913Sc.2739C>TSubstitution - coding silent
FBXO36ENSG00000153832ENST00000283946p.S140Sc.420G>ASubstitution - coding silent
CCDC140ENSG00000163081ENST00000295226p.A112Tc.334G>ASubstitution - Missense
ENST00000317082_v61p.S811Yc.2432C>ASubstitution - Missense
TRPM6ENSG00000119121ENST00000451710p.V1790Ic.5368G>ASubstitution - Missense
L3MBTL1ENSG00000185513ENST00000422861p.Y524Cc.1571A>GSubstitution - Missense
VWA5B2ENSG00000145198ENST00000426955p.S363Sc.1089C>TSubstitution - coding silent
KIAA0947ENSG00000164151ENST00000296564p.I694Tc.2081T>CSubstitution - Missense
OSBPL6ENSG00000079156ENST00000315022p.T267Sc.800C>GSubstitution - Missense
MON2ENSG00000061987ENST00000280379p.D1106Yc.3316G>TSubstitution - Missense
AIFM1ENSG00000156709ENST00000287295p.A113Ac.339C>TSubstitution - coding silent
LAMA1ENSG00000101680ENST00000389658p.N1940Nc.5820C>TSubstitution - coding silent
PASD1ENSG00000166049ENST00000370357p.Y625Fc.1874A>TSubstitution - Missense
ARAP1ENSG00000186635ENST00000334211p.R400Hc.1199G>ASubstitution - Missense
MYEOVENSG00000172927ENST00000308946p.T10Ic.29C>TSubstitution - Missense
CROCCENSG00000058453ENST00000375541p.Q917*c.2749C>TSubstitution - Nonsense
ENDOUENSG00000111405ENST00000229003p.V148Vc.444C>ASubstitution - coding silent
DLG2ENSG00000150672ENST00000376104p.?c.2344+4A>CUnknown
KIAA1731ENSG00000166004ENST00000325212p.T553fs*15c.1650delADeletion - Frameshift
HMCN1ENSG00000143341ENST00000271588p.V1465Gc.4394T>GSubstitution - Missense
MOAP1ENSG00000165943ENST00000298894p.L6Sc.17T>CSubstitution - Missense
CMC2ENSG00000103121ENST00000219400p.R45Kc.134G>ASubstitution - Missense
MPDU1ENSG00000129255ENST00000250124p.T89Tc.267C>TSubstitution - coding silent
ANKRD30BENSG00000180777ENST00000358984p.K647Nc.1941A>TSubstitution - Missense
PLB1ENSG00000163803ENST00000327757p.L1089Hc.3266T>ASubstitution - Missense
FAM136AENSG00000035141ENST00000037869p.?c.229-9T>CUnknown
ENST00000316893p.R585Gc.1753C>GSubstitution - Missense
ZNF804BENSG00000182348ENST00000333190p.Q108Hc.324A>TSubstitution - Missense
NOX3ENSG00000074771ENST00000159060p.R227*c.679C>TSubstitution - Nonsense
FAM166AENSG00000188163ENST00000344774p.D236Dc.708C>TSubstitution - coding silent
COL28A1ENSG00000215018ENST00000399429p.P723Lc.2168C>TSubstitution - Missense
ADCY2ENSG00000078295ENST00000537121p.P69Pc.207G>ASubstitution - coding silent
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
SERPING1ENSG00000149131ENST00000278407p.S296Rc.886A>CSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.Y568Fc.1703A>TSubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.L593Lc.1777C>TSubstitution - coding silent
PDIA6ENSG00000143870ENST00000381611p.I291Vc.871A>GSubstitution - Missense
BCAR1ENSG00000050820ENST00000393422p.R561Wc.1681C>TSubstitution - Missense
ABCF2ENSG00000033050ENST00000222388p.?c.155-4G>AUnknown
CTSWENSG00000172543ENST00000307886p.R23Tc.68G>CSubstitution - Missense
UBE4AENSG00000110344ENST00000431736p.P400Pc.1200A>GSubstitution - coding silent
C11orf87ENSG00000185742ENST00000327419p.R87Gc.259C>GSubstitution - Missense
CCDC18ENSG00000122483ENST00000334652p.R1226Rc.3678G>ASubstitution - coding silent
CCDC178ENSG00000166960ENST00000300227p.E642Kc.1924G>ASubstitution - Missense
C17orf97ENSG00000187624ENST00000360127p.E270Kc.808G>ASubstitution - Missense
KRTAP4-11ENSG00000212721ENST00000391413p.S48fs*>113c.142_247del106Deletion - Frameshift
AGXTENSG00000172482ENST00000307503p.P11Sc.31C>TSubstitution - Missense
ZNF720ENSG00000197302ENST00000316491p.G38Rc.112G>ASubstitution - Missense
ENST00000356127p.R32604Cc.97810C>TSubstitution - Missense
ASGR1ENSG00000141505ENST00000269299p.?c.443-1G>CUnknown
SPTBN1ENSG00000115306ENST00000333896p.A1971Ac.5913A>GSubstitution - coding silent
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
ENST00000400460p.L70Pc.209T>CSubstitution - Missense
INCENPENSG00000149503ENST00000394818p.P206Ac.616C>GSubstitution - Missense
ENST00000298047_v61p.R2610Sc.7830G>CSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.Q1181Qc.3543A>GSubstitution - coding silent
ASPHENSG00000198363ENST00000389204p.T27Tc.81G>ASubstitution - coding silent
SCINENSG00000006747ENST00000297029p.D531Dc.1593T>CSubstitution - coding silent
HEXDCENSG00000169660ENST00000337014p.L347Lc.1041G>TSubstitution - coding silent
CLUHENSG00000132361ENST00000435359p.L1025Lc.3075C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.R32606Cc.97816C>TSubstitution - Missense
PRMT2ENSG00000160310ENST00000334494p.D198Dc.594T>CSubstitution - coding silent
TTI2ENSG00000129696ENST00000360742p.?c.1260-8G>CUnknown
FEZ2ENSG00000171055ENST00000405912p.S317Cc.950C>GSubstitution - Missense
ENST00000160874p.E58Kc.172G>ASubstitution - Missense
RPS6KA3ENSG00000177189ENST00000379565p.N309Nc.927C>TSubstitution - coding silent
STX11ENSG00000135604ENST00000367568p.S122Lc.365C>TSubstitution - Missense
UPRTENSG00000094841ENST00000373383p.P8Lc.23C>TSubstitution - Missense
APOOLENSG00000155008ENST00000373173p.T242Ac.724A>GSubstitution - Missense
KIAA1683ENSG00000130518ENST00000392413p.S347Sc.1041C>TSubstitution - coding silent
SLFN12LENSG00000205045ENST00000361112p.S562Lc.1685C>TSubstitution - Missense
ITGA2ENSG00000164171ENST00000296585p.Y1108Yc.3324T>CSubstitution - coding silent
DNAJC6ENSG00000116675ENST00000371069p.G478Gc.1434A>GSubstitution - coding silent
CTNND1ENSG00000198561ENST00000361391p.N606Sc.1817A>GSubstitution - Missense
SEPT14ENSG00000154997ENST00000388975p.R157Hc.470G>ASubstitution - Missense
PARP1ENSG00000143799ENST00000366790p.R117Hc.350G>ASubstitution - Missense
OR52L1ENSG00000183313ENST00000332249p.V114Ic.340G>ASubstitution - Missense
SLC28A1ENSG00000156222ENST00000537624p.V311Vc.933G>TSubstitution - coding silent
CROCCENSG00000058453ENST00000375541p.R295Cc.883C>TSubstitution - Missense
ARID2ENSG00000189079ENST00000334344p.S1470*c.4409C>GSubstitution - Nonsense
MAPKBP1ENSG00000137802ENST00000457542p.K1176Kc.3528G>ASubstitution - coding silent
PRAMEF2ENSG00000120952ENST00000240189p.S24Ac.70T>GSubstitution - Missense
SFSWAPENSG00000061936ENST00000261674p.V320Lc.958G>TSubstitution - Missense
DMXL2ENSG00000104093ENST00000251076p.?c.364+8G>AUnknown
ASPHENSG00000198363ENST00000379449p.T56Tc.168G>ASubstitution - coding silent
MFSD6ENSG00000151690ENST00000392328p.A247Tc.739G>ASubstitution - Missense
BMP1ENSG00000168487ENST00000306385p.D803Gc.2408A>GSubstitution - Missense
COL6A1ENSG00000142156ENST00000361866p.P827Lc.2480C>TSubstitution - Missense
CCDC178ENSG00000166960ENST00000383096p.E680Kc.2038G>ASubstitution - Missense
CNGA1ENSG00000198515ENST00000358519p.F665Sc.1994T>CSubstitution - Missense
ZNF665ENSG00000197497ENST00000396424p.Q189Kc.565C>ASubstitution - Missense
MYH15ENSG00000144821ENST00000273353p.E1180Ac.3539A>CSubstitution - Missense
ZNF582ENSG00000018869ENST00000301310p.I187fs*8c.560_561delTTDeletion - Frameshift
ENST00000318252p.T173Tc.519C>TSubstitution - coding silent
ELMO3ENSG00000102890ENST00000393997p.?c.351+3G>AUnknown
CUL3ENSG00000036257ENST00000264414p.Q551Kc.1651C>ASubstitution - Missense
POTEEENSG00000188219ENST00000358087p.?c.521+4A>CUnknown
PLEKHA4ENSG00000105559ENST00000263265p.S473Cc.1418C>GSubstitution - Missense
SNX24ENSG00000064652ENST00000513881p.A157Pc.469G>CSubstitution - Missense
SERINC5ENSG00000164300ENST00000512721p.K384Kc.1152A>GSubstitution - coding silent
ZNF568ENSG00000198453ENST00000455427p.R418Rc.1254G>ASubstitution - coding silent
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
OR12D2ENSG00000168787ENST00000383555p.V148Ic.442G>ASubstitution - Missense
PCDHA2ENSG00000204969ENST00000526136p.H511Hc.1533C>TSubstitution - coding silent
OR5C1ENSG00000148215ENST00000373680p.M254Ic.762G>TSubstitution - Missense
ADAMTSL4ENSG00000143382ENST00000369039p.P381Ac.1141C>GSubstitution - Missense
ARHGAP35ENSG00000160007ENST00000404338p.S811Yc.2432C>ASubstitution - Missense
ENST00000316490_v65p.S900Sc.2700C>TSubstitution - coding silent
IRAK4ENSG00000198001ENST00000448290p.R183Qc.548G>ASubstitution - Missense
FOCADENSG00000188352ENST00000380249p.P954Lc.2861C>TSubstitution - Missense
TSKUENSG00000182704ENST00000333090p.L212Vc.634C>GSubstitution - Missense
ISG20ENSG00000172183ENST00000306072p.I164Ic.492C>TSubstitution - coding silent
RERGLENSG00000111404ENST00000229002p.D58Ec.174C>ASubstitution - Missense
NCKAP5LENSG00000167566ENST00000335999p.Y610_Q611>*c.1830_1832delCCAComplex - deletion inframe
RDH16ENSG00000139547ENST00000398138p.E217fs*4c.649delGDeletion - Frameshift
PCENSG00000173599ENST00000393955p.S859Sc.2577G>ASubstitution - coding silent
RPRD2ENSG00000163125ENST00000369068p.E702Kc.2104G>ASubstitution - Missense
ENST00000405167p.P3744Lc.11231C>TSubstitution - Missense
ARFGAP1ENSG00000101199ENST00000353546p.L99Sc.296T>CSubstitution - Missense
ARFGAP1ENSG00000101199ENST00000370275p.L99Sc.296T>CSubstitution - Missense
ELMOD3ENSG00000115459ENST00000409890p.L333Vc.997C>GSubstitution - Missense
ILKAPENSG00000132323ENST00000254654p.E346Kc.1036G>ASubstitution - Missense
PPP5CENSG00000011485ENST00000012443p.G98Gc.294T>CSubstitution - coding silent
PRRC1ENSG00000164244ENST00000442138p.G402Vc.1205G>TSubstitution - Missense
ARHGAP26ENSG00000145819ENST00000274498p.Q88Lc.263A>TSubstitution - Missense
SCIMPENSG00000161929ENST00000574081p.R48Qc.143G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.E971*c.2911G>TSubstitution - Nonsense
DPP6ENSG00000130226ENST00000377770p.N579Nc.1737T>CSubstitution - coding silent
VWA5B2ENSG00000145198ENST00000426955p.?c.2962+6A>TUnknown
HPENSG00000257017ENST00000355906p.K112Ec.334A>GSubstitution - Missense
CRB1ENSG00000134376ENST00000535699p.S431Sc.1293A>GSubstitution - coding silent
OR51G1ENSG00000176879ENST00000321961p.P286Sc.856C>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.C176fs*6c.521_522insGCGCInsertion - Frameshift
GRM8ENSG00000179603ENST00000358373p.D466Nc.1396G>ASubstitution - Missense
ENST00000369212_v70p.T66Kc.197C>ASubstitution - Missense
SHROOM4ENSG00000158352ENST00000289292p.R1116Cc.3346C>TSubstitution - Missense
ARAP1ENSG00000186635ENST00000393609p.R645Hc.1934G>ASubstitution - Missense
ENST00000220188p.C290Sc.869G>CSubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.H1467Yc.4399C>TSubstitution - Missense
ADAMTSL4ENSG00000143382ENST00000369038p.P381Ac.1141C>GSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.S1642Cc.4925C>GSubstitution - Missense
FAM117AENSG00000121104ENST00000240364p.I95Ic.285C>TSubstitution - coding silent
RAI1ENSG00000108557ENST00000261641p.R1621Qc.4862G>ASubstitution - Missense
CLUHENSG00000132361ENST00000435359p.L1025Lc.3075C>TSubstitution - coding silent
USP14ENSG00000101557ENST00000261601p.G106Gc.318A>GSubstitution - coding silent
VPS37AENSG00000155975ENST00000324849p.Y141Cc.422A>GSubstitution - Missense
VPS35ENSG00000069329ENST00000299138p.E792Ec.2376A>GSubstitution - coding silent
NM_003584.1p.Y289Sc.866A>CSubstitution - Missense
USP40ENSG00000085982ENST00000450966p.R1088Hc.3263G>ASubstitution - Missense
TAS2R1ENSG00000169777ENST00000382492p.H273Nc.817C>ASubstitution - Missense
NHSL2ENSG00000204131ENST00000540800p.V871Gc.2612T>GSubstitution - Missense
SPICE1ENSG00000163611ENST00000295872p.I94Vc.280A>GSubstitution - Missense
MBTD1ENSG00000011258ENST00000586178p.T70Tc.210A>GSubstitution - coding silent
TRAF3IP2ENSG00000056972ENST00000368761p.P327Pc.981C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000366942p.F784Vc.2350T>GSubstitution - Missense
BRD2ENSG00000204256ENST00000395289p.P260Pc.780G>ASubstitution - coding silent
CEP89ENSG00000121289ENST00000590597p.K306Kc.918A>GSubstitution - coding silent
CACNA1EENSG00000198216ENST00000367567p.L917Fc.2749C>TSubstitution - Missense
GLS2ENSG00000135423ENST00000311966p.F401Lc.1203C>ASubstitution - Missense
ENSG00000143674ENST00000366624p.A695Vc.2084C>TSubstitution - Missense
MON2ENSG00000061987ENST00000393632p.D1105Yc.3313G>TSubstitution - Missense
PTPN6ENSG00000111679ENST00000456013p.?c.516+6G>AUnknown
SLC35B1ENSG00000121073ENST00000240333p.A139Tc.415G>ASubstitution - Missense
MYBBP1AENSG00000132382ENST00000254718p.L1060Lc.3178C>TSubstitution - coding silent
TAS1R1ENSG00000173662ENST00000333172p.M608Tc.1823T>CSubstitution - Missense
ENST00000300671p.L593Lc.1777C>TSubstitution - coding silent
BARD1ENSG00000138376ENST00000260947p.V154Fc.460G>TSubstitution - Missense
SIGLEC10ENSG00000142512ENST00000439889p.L332Mc.994C>ASubstitution - Missense
ENST00000354677p.K220Kc.660G>ASubstitution - coding silent
MGRN1ENSG00000102858ENST00000399577p.R456Rc.1366C>ASubstitution - coding silent
DYSFENSG00000135636ENST00000258104p.P1563Pc.4689C>TSubstitution - coding silent
ENST00000317082p.S811Yc.2432C>ASubstitution - Missense
MAST4ENSG00000069020ENST00000403625p.P1821Lc.5462C>TSubstitution - Missense
ATXN7L3ENSG00000087152ENST00000389384p.N301Nc.903C>TSubstitution - coding silent
RBAKENSG00000146587ENST00000396912p.R615*c.1843C>TSubstitution - Nonsense
ZNF222ENSG00000159885ENST00000391960p.V76Ac.227T>CSubstitution - Missense
KIAA1731ENSG00000166004ENST00000411936p.T553fs*15c.1650delADeletion - Frameshift
ABCA4ENSG00000198691ENST00000535735p.F608Vc.1822T>GSubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.S1117Sc.3351T>CSubstitution - coding silent
ECE2ENSG00000145194ENST00000359140p.R584Rc.1752C>TSubstitution - coding silent
G0S2ENSG00000123689ENST00000367029p.Q76*c.226C>TSubstitution - Nonsense
ITGALENSG00000005844ENST00000356798p.D269Yc.805G>TSubstitution - Missense
ZNF3ENSG00000166526ENST00000299667p.V8Lc.22G>CSubstitution - Missense
IFIH1ENSG00000115267ENST00000263642p.A733Vc.2198C>TSubstitution - Missense
GRB10ENSG00000106070ENST00000398812p.Y16Hc.46T>CSubstitution - Missense
RIMBP2ENSG00000060709ENST00000536002p.A183Ac.549G>ASubstitution - coding silent
CTNND1ENSG00000198561ENST00000399050p.N606Sc.1817A>GSubstitution - Missense
FAM160A2ENSG00000051009ENST00000265978p.G703Rc.2107G>CSubstitution - Missense
ENST00000321016_v61p.T498Ic.1493C>TSubstitution - Missense
FLT1ENSG00000102755ENST00000282397p.T161Tc.483G>ASubstitution - coding silent
PRAMEF12ENSG00000116726ENST00000357726p.E356Ec.1068G>ASubstitution - coding silent
DLG2ENSG00000150672ENST00000418306p.?c.1666+4A>CUnknown
CCDC81ENSG00000149201ENST00000354755p.R395Sc.1185A>CSubstitution - Missense
CEP152ENSG00000103995ENST00000399334p.P1187Ac.3559C>GSubstitution - Missense
DNAJC6ENSG00000116675ENST00000395325p.G421Gc.1263A>GSubstitution - coding silent
SERBP1ENSG00000142864ENST00000370995p.A393Vc.1178C>TSubstitution - Missense
ENST00000414315p.C44fs*6c.125_126insGCGCInsertion - Frameshift
BRI3ENSG00000164713ENST00000297290p.R66Hc.197G>ASubstitution - Missense
AUTS2ENSG00000158321ENST00000342771p.H851Qc.2553C>GSubstitution - Missense
SHPKENSG00000197417ENST00000225519p.A433Vc.1298C>TSubstitution - Missense
CHD6ENSG00000124177ENST00000373222p.R193Rc.579G>TSubstitution - coding silent
MACC1ENSG00000183742ENST00000332878p.C391Fc.1172G>TSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.I363Ic.1089C>TSubstitution - coding silent
COL27A1ENSG00000196739ENST00000356083p.R552Rc.1654C>ASubstitution - coding silent
JPH3ENSG00000154118ENST00000284262p.I411Ic.1233C>TSubstitution - coding silent
CELSR3ENSG00000008300ENST00000164024p.V2412Ic.7234G>ASubstitution - Missense
OR4B1ENSG00000175619ENST00000309562p.N222Nc.666C>TSubstitution - coding silent
MYH7ENSG00000092054ENST00000355349p.R108Lc.323G>TSubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.L496Mc.1486C>ASubstitution - Missense
SLC28A1ENSG00000156222ENST00000286749p.V311Vc.933G>TSubstitution - coding silent
HDAC7ENSG00000061273ENST00000080059p.L687Lc.2061C>TSubstitution - coding silent
NADK2ENSG00000152620ENST00000381937p.?c.1191-8C>TUnknown
NUDT18ENSG00000173566ENST00000309188p.G126Cc.376G>TSubstitution - Missense
KIR3DL3ENSG00000242019ENST00000291860p.E57Kc.169G>ASubstitution - Missense
LMCD1ENSG00000071282ENST00000157600p.?c.387+10C>TUnknown
GLYR1ENSG00000140632ENST00000321919p.M523Lc.1567A>CSubstitution - Missense
PRPF6ENSG00000101161ENST00000266079p.E753*c.2257G>TSubstitution - Nonsense
LAMA1ENSG00000101680ENST00000389658p.F2194Lc.6582T>GSubstitution - Missense
ASB9ENSG00000102048ENST00000380488p.T279Tc.837C>TSubstitution - coding silent
ENST00000449046_v65p.S564Lc.1691C>TSubstitution - Missense
MCM7ENSG00000166508ENST00000354230p.D471Dc.1413C>TSubstitution - coding silent
KIAA0947ENSG00000164151ENST00000296564p.I694Tc.2081T>CSubstitution - Missense
CHD6ENSG00000124177ENST00000373233p.R158Rc.474G>TSubstitution - coding silent
STK4ENSG00000101109ENST00000372806p.D97Ec.291C>ASubstitution - Missense
STK4ENSG00000101109ENST00000372801p.D97Ec.291C>ASubstitution - Missense
LAMC3ENSG00000050555ENST00000361069p.T337Mc.1010C>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.T444Tc.1332C>TSubstitution - coding silent
MAST4ENSG00000069020ENST00000403666p.P1632Lc.4895C>TSubstitution - Missense
KCNJ5ENSG00000120457ENST00000338350p.G387Rc.1159G>CSubstitution - Missense
CROCCENSG00000058453ENST00000375541p.R918Lc.2753G>TSubstitution - Missense
FREM2ENSG00000150893ENST00000280481p.G574Gc.1722T>ASubstitution - coding silent
FLT1ENSG00000102755ENST00000541932p.T161Tc.483G>ASubstitution - coding silent
LRRC43ENSG00000158113ENST00000425921p.P353Lc.1058C>TSubstitution - Missense
SPATA2ENSG00000158480ENST00000289431p.S297Wc.890C>GSubstitution - Missense
NPEPL1ENSG00000215440ENST00000356091p.C504Wc.1512T>GSubstitution - Missense
ENST00000246798p.A1176Ac.3528C>TSubstitution - coding silent
ENST00000399211_v68p.R257Cc.769C>TSubstitution - Missense
CLCN4ENSG00000073464ENST00000380833p.P607Sc.1819C>TSubstitution - Missense
TTNENSG00000155657ENST00000360870p.E4241Ec.12723A>GSubstitution - coding silent
KEAP1ENSG00000079999ENST00000393623p.E219Qc.655G>CSubstitution - Missense
SMG6ENSG00000070366ENST00000263073p.T987Tc.2961C>ASubstitution - coding silent
TCP10LENSG00000242220ENST00000300258p.R212Wc.634C>TSubstitution - Missense
PRMT2ENSG00000160310ENST00000334494p.A252Ac.756G>ASubstitution - coding silent
CSMD1ENSG00000183117ENST00000537824p.T444Tc.1332C>TSubstitution - coding silent
PLB1ENSG00000163803ENST00000422425p.L1078Hc.3233T>ASubstitution - Missense
POTEEENSG00000188219ENST00000356920p.?c.521+4A>CUnknown
ADCY2ENSG00000078295ENST00000338316p.P249Pc.747G>ASubstitution - coding silent
IL12RB1ENSG00000096996ENST00000322153p.P3Lc.8C>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.Q51*c.151C>TSubstitution - Nonsense
XRCC1ENSG00000073050ENST00000262887p.V68Mc.202G>ASubstitution - Missense
DPP6ENSG00000130226ENST00000332007p.N517Nc.1551T>CSubstitution - coding silent
EPHA1ENSG00000146904ENST00000275815p.G381Gc.1143G>ASubstitution - coding silent
RBBP6ENSG00000122257ENST00000319715p.L1170Ic.3508C>ASubstitution - Missense
C17orf97ENSG00000187624ENST00000360127p.E270Kc.808G>ASubstitution - Missense
ABCC10ENSG00000124574ENST00000372530p.V970Mc.2908G>ASubstitution - Missense
ECE2ENSG00000145194ENST00000357474p.R659Rc.1977C>TSubstitution - coding silent
CCDC33ENSG00000140481ENST00000398814p.?c.759+5G>AUnknown
CCDC33ENSG00000140481ENST00000321288p.?c.1368+5G>AUnknown
C1orf174ENSG00000198912ENST00000361605p.D240_A241insDc.705_706insGACInsertion - In frame
BRCA2ENSG00000139618ENST00000544455p.H1467Yc.4399C>TSubstitution - Missense
TPSD1ENSG00000095917ENST00000211076p.?c.82+7C>TUnknown
NM_004073p.R315Kc.944G>ASubstitution - Missense
CEP152ENSG00000103995ENST00000399334p.R957Wc.2869C>TSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.R2610Sc.7830G>CSubstitution - Missense
CACNA1EENSG00000198216ENST00000367573p.L1310Fc.3928C>TSubstitution - Missense
ABCA4ENSG00000198691ENST00000370225p.F608Vc.1822T>GSubstitution - Missense
TTC8ENSG00000165533ENST00000380656p.A55Sc.163G>TSubstitution - Missense
TSHRENSG00000165409ENST00000541158p.R707Rc.2121G>ASubstitution - coding silent
BCAT1ENSG00000060982ENST00000261192p.E61Ac.182A>CSubstitution - Missense
NSRP1ENSG00000126653ENST00000247026p.D363Nc.1087G>ASubstitution - Missense
TOP2AENSG00000131747ENST00000423485p.T530Ac.1588A>GSubstitution - Missense
ZNF665ENSG00000197497ENST00000396424p.Q124Kc.370C>ASubstitution - Missense
DECR2ENSG00000242612ENST00000219481p.I160Ic.480C>TSubstitution - coding silent
GPR149ENSG00000174948ENST00000389740p.F397Ic.1189T>ASubstitution - Missense
AKAP2ENSG00000241978ENST00000374525p.L733Lc.2199G>TSubstitution - coding silent
HCN1ENSG00000164588ENST00000303230p.G105Rc.313G>CSubstitution - Missense
OR8U1ENSG00000172199ENST00000302270p.Y60Yc.180C>TSubstitution - coding silent
SLIT1ENSG00000187122ENST00000266058p.A754Ac.2262C>GSubstitution - coding silent
EPHA8ENSG00000070886ENST00000166244p.?c.2389-4G>AUnknown
DUSP12ENSG00000081721ENST00000367943p.K163fs*51c.486delGDeletion - Frameshift
CFHENSG00000000971ENST00000367429p.H980Hc.2940C>TSubstitution - coding silent
DLG2ENSG00000150672ENST00000398309p.?c.2029+4A>CUnknown
ZNF831ENSG00000124203ENST00000371030p.S1474Sc.4422C>TSubstitution - coding silent
GDF6ENSG00000156466ENST00000287020p.L143Rc.428T>GSubstitution - Missense
SCINENSG00000006747ENST00000297029p.D531Dc.1593T>CSubstitution - coding silent
ADRA2CENSG00000184160ENST00000330055p.L99Lc.297G>CSubstitution - coding silent
CECR2ENSG00000099954ENST00000262608p.E1056Ac.3167A>CSubstitution - Missense
FBXO30ENSG00000118496ENST00000237281p.L425Mc.1273C>ASubstitution - Missense
ENST00000295872_v68p.I94Vc.280A>GSubstitution - Missense
KAT2AENSG00000108773ENST00000225916p.I560Vc.1678A>GSubstitution - Missense
GABBR1ENSG00000204681ENST00000377034p.R372Wc.1114C>TSubstitution - Missense
EPC2ENSG00000135999ENST00000258484p.?c.1231-4G>TUnknown
PDE6BENSG00000133256ENST00000255622p.T604Ic.1811C>TSubstitution - Missense
TTC8ENSG00000165533ENST00000338104p.A45Sc.133G>TSubstitution - Missense
PASD1ENSG00000166049ENST00000370357p.Y625Fc.1874A>TSubstitution - Missense
UBASH3BENSG00000154127ENST00000284273p.I462Fc.1384A>TSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.Y568Fc.1703A>TSubstitution - Missense
PCK2ENSG00000100889ENST00000396973p.V214Vc.642G>ASubstitution - coding silent
RHODENSG00000173156ENST00000308831p.S193Tc.578G>CSubstitution - Missense
MYO3AENSG00000095777ENST00000543632p.E581Kc.1741G>ASubstitution - Missense
BIRC2ENSG00000110330ENST00000227758p.K546Kc.1638G>ASubstitution - coding silent
CFHENSG00000000971ENST00000367429p.Y227Cc.680A>GSubstitution - Missense
PCSK9ENSG00000169174ENST00000302118p.G263Sc.787G>ASubstitution - Missense
ZNF676ENSG00000196109ENST00000397121p.A373Ac.1119C>GSubstitution - coding silent
CHAF1BENSG00000159259ENST00000314103p.P415Pc.1245G>ASubstitution - coding silent
OSBPL6ENSG00000079156ENST00000190611p.T288Sc.863C>GSubstitution - Missense
SMPD3ENSG00000103056ENST00000219334p.A344Gc.1031C>GSubstitution - Missense
ATP6V1C2ENSG00000143882ENST00000381661p.?c.825+3G>AUnknown
ENST00000381114p.I355Tc.1064T>CSubstitution - Missense
SERINC5ENSG00000164300ENST00000509193p.K382Kc.1146A>GSubstitution - coding silent
MAST4ENSG00000069020ENST00000261569p.P1627Lc.4880C>TSubstitution - Missense
BRI3ENSG00000164713ENST00000539286p.R66Hc.197G>ASubstitution - Missense
ENST00000257665_v70p.P957Pc.2871G>ASubstitution - coding silent
GCKENSG00000106633ENST00000395796p.P144Pc.432C>GSubstitution - coding silent
SMG5ENSG00000198952ENST00000361813p.R637Qc.1910G>ASubstitution - Missense
PARP1ENSG00000143799ENST00000366794p.Y634Cc.1901A>GSubstitution - Missense
PCK2ENSG00000100889ENST00000216780p.V214Vc.642G>ASubstitution - coding silent
MYO3AENSG00000095777ENST00000265944p.E581Kc.1741G>ASubstitution - Missense
PRAMEF12ENSG00000116726ENST00000357726p.V361Ec.1082T>ASubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.E2692Kc.8074G>ASubstitution - Missense
PKD1L2ENSG00000166473ENST00000525539p.L1610Lc.4830G>CSubstitution - coding silent
ENST00000399211p.R257Cc.769C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.C176fs*6c.521_522insGCGCInsertion - Frameshift
TP53ENSG00000141510ENST00000455263p.C176fs*6c.521_522insGCGCInsertion - Frameshift
CLUHENSG00000132361ENST00000435359p.P122Pc.366G>ASubstitution - coding silent
POLG2ENSG00000256525ENST00000539111p.N249Sc.746A>GSubstitution - Missense
KRT26ENSG00000186393ENST00000335552p.Q461Pc.1382A>CSubstitution - Missense
ENST00000431569p.Q341Hc.1023G>CSubstitution - Missense
EXOC6BENSG00000144036ENST00000272427p.H126Rc.377A>GSubstitution - Missense
WDR54ENSG00000005448ENST00000348227p.P214Lc.641C>TSubstitution - Missense
MCATENSG00000100294ENST00000290429p.K176Rc.527A>GSubstitution - Missense
DPP10ENSG00000175497ENST00000410059p.Q287Hc.861A>CSubstitution - Missense
ITM2AENSG00000078596ENST00000373298p.T8Nc.23C>ASubstitution - Missense
NUP88ENSG00000108559ENST00000573584p.?c.298-3C>TUnknown
ENST00000402998p.Q279*c.835C>TSubstitution - Nonsense
PIGGENSG00000174227ENST00000310340p.S237Rc.711C>GSubstitution - Missense
MAST2ENSG00000086015ENST00000372008p.S131Sc.393C>TSubstitution - coding silent
FOCADENSG00000188352ENST00000380249p.S126Gc.376A>GSubstitution - Missense
ENST00000414575p.A100_G101insAc.271_272insCTGInsertion - In frame
ENST00000220188p.N444Nc.1332C>TSubstitution - coding silent
NM_015401.1p.L648Lc.1944C>TSubstitution - coding silent
RNF17ENSG00000132972ENST00000255324p.S1444Gc.4330A>GSubstitution - Missense
RNF220ENSG00000187147ENST00000355387p.L216Lc.648G>ASubstitution - coding silent
NADK2ENSG00000152620ENST00000397338p.?c.702-8C>TUnknown
NM_004259.4p.G858Sc.2572G>ASubstitution - Missense
NM_052947p.Q1214Ec.3640C>GSubstitution - Missense
KPNA2ENSG00000182481ENST00000330459p.*530Qc.1588T>CNonstop extension
MUC4ENSG00000145113ENST00000463781p.S1018Cc.3053C>GSubstitution - Missense
LTBP1ENSG00000049323ENST00000407925p.H62Rc.185A>GSubstitution - Missense
ALMS1ENSG00000116127ENST00000264448p.Y4144Hc.12430T>CSubstitution - Missense
AAK1ENSG00000115977ENST00000339092p.F281Fc.843C>TSubstitution - coding silent
ENST00000339092_v68p.F281Fc.843C>TSubstitution - coding silent
SH3BP4ENSG00000130147ENST00000344528p.L656Lc.1968C>TSubstitution - coding silent
KIAA1407ENSG00000163617ENST00000545063p.H512Hc.1536C>TSubstitution - coding silent
PCDHB15ENSG00000113248ENST00000231173p.S164Cc.490A>TSubstitution - Missense
SLFN12LENSG00000205045ENST00000449046p.S564Lc.1691C>TSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.E971*c.2911G>TSubstitution - Nonsense
PCDHGA6ENSG00000253731ENST00000517434p.A699Vc.2096C>TSubstitution - Missense
ESPL1ENSG00000135476ENST00000257934p.L487Lc.1459C>TSubstitution - coding silent
CARNS1ENSG00000172508ENST00000445895p.E574delEc.1717_1719delGAGDeletion - In frame
EDRF1ENSG00000107938ENST00000337623p.A1198Vc.3593C>TSubstitution - Missense
SLAMF1ENSG00000117090ENST00000302035p.G106Gc.318G>ASubstitution - coding silent
ASTN1ENSG00000152092ENST00000361833p.N442Kc.1326C>ASubstitution - Missense
PTHLHENSG00000087494ENST00000201015p.S39Tc.115T>ASubstitution - Missense
SPEF2ENSG00000152582ENST00000356031p.E176*c.526G>TSubstitution - Nonsense
EIF4A1ENSG00000161960ENST00000380512p.F108fs*5c.324delCDeletion - Frameshift
NM_003685.1p.Q133Qc.399A>GSubstitution - coding silent
COL6A2ENSG00000142173ENST00000357838p.K796*c.2386A>TSubstitution - Nonsense
SLC13A5ENSG00000141485ENST00000433363p.?c.1276-3C>AUnknown
GRM8ENSG00000179603ENST00000405249p.E489Ec.1467G>ASubstitution - coding silent
ALPK2ENSG00000198796ENST00000361673p.Q1853Ec.5557C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P3744Lc.11231C>TSubstitution - Missense
AGAP1ENSG00000157985ENST00000304032p.Q451Qc.1353G>ASubstitution - coding silent
EPHA1ENSG00000146904ENST00000275815p.G381Gc.1143G>ASubstitution - coding silent
PKD1L1ENSG00000158683ENST00000289672p.S1483_Q1488delSLGSVQc.4447_4464del18Deletion - In frame
NPC1L1ENSG00000015520ENST00000289547p.Q1131Hc.3393G>CSubstitution - Missense
GCKENSG00000106633ENST00000345378p.P146Pc.438C>GSubstitution - coding silent
GCKENSG00000106633ENST00000403799p.P145Pc.435C>GSubstitution - coding silent
ABCF2ENSG00000033050ENST00000287844p.?c.155-4G>AUnknown
EGFRENSG00000146648ENST00000275493p.L883Fc.2649G>TSubstitution - Missense
RNF19AENSG00000034677ENST00000519449p.Q2*c.4C>TSubstitution - Nonsense
VPS13BENSG00000132549ENST00000358544p.?c.5295+8T>CUnknown
VPS13BENSG00000132549ENST00000357162p.?c.5220+8T>CUnknown
ZNF3ENSG00000166526ENST00000413658p.V8Lc.22G>CSubstitution - Missense
MCM7ENSG00000166508ENST00000303887p.D647Dc.1941C>TSubstitution - coding silent
RIMS2ENSG00000176406ENST00000406091p.Q243*c.727C>TSubstitution - Nonsense
RIMS2ENSG00000176406ENST00000507740p.Q51*c.151C>TSubstitution - Nonsense
RIMS2ENSG00000176406ENST00000436393p.Q21*c.61C>TSubstitution - Nonsense
PHLDB3ENSG00000176531ENST00000292140p.S337Sc.1011T>ASubstitution - coding silent
SULF2ENSG00000196562ENST00000359930p.L522Pc.1565T>CSubstitution - Missense
CTSAENSG00000064601ENST00000372484p.A473Ac.1419C>TSubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.V285Vc.855G>ASubstitution - coding silent
GPD2ENSG00000115159ENST00000310454p.I552Ic.1656T>ASubstitution - coding silent
INTS1ENSG00000164880ENST00000389470p.P1143Lc.3428C>TSubstitution - Missense
ESYT2ENSG00000117868ENST00000251527p.G701Gc.2103G>TSubstitution - coding silent
DPP6ENSG00000130226ENST00000404039p.N515Nc.1545T>CSubstitution - coding silent
AIFM3ENSG00000183773ENST00000399167p.Q394Hc.1182G>TSubstitution - Missense
PXDNENSG00000130508ENST00000252804p.A1059Tc.3175G>ASubstitution - Missense
ZNF70ENSG00000187792ENST00000341976p.V160Vc.480G>ASubstitution - coding silent
PXDNENSG00000130508ENST00000252804p.R231Hc.692G>ASubstitution - Missense
ECE2ENSG00000145194ENST00000402825p.R731Lc.2192G>TSubstitution - Missense
ECE2ENSG00000145194ENST00000357474p.R659Lc.1976G>TSubstitution - Missense
ECE2ENSG00000145194ENST00000359140p.R584Lc.1751G>TSubstitution - Missense
PLEKHG4BENSG00000153404ENST00000283426p.R979Hc.2936G>ASubstitution - Missense
NM_052909.1p.R170Hc.509G>ASubstitution - Missense
NM_002203.2p.Y1108Yc.3324T>CSubstitution - coding silent
MRPS30ENSG00000112996ENST00000507110p.N427Ic.1280A>TSubstitution - Missense
ANKRD55ENSG00000164512ENST00000341048p.C256Gc.766T>GSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.I363Ic.1089C>TSubstitution - coding silent
COL11A2ENSG00000204248ENST00000341947p.R1660Hc.4979G>ASubstitution - Missense
ABCC10ENSG00000124574ENST00000244533p.V942Mc.2824G>ASubstitution - Missense
GFRALENSG00000187871ENST00000340465p.H335Yc.1003C>TSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.F784Vc.2350T>GSubstitution - Missense
FLYWCH1ENSG00000059122ENST00000399667p.T424Mc.1271C>TSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000553158p.Q943Ec.2827C>GSubstitution - Missense
ADAMTSL4ENSG00000143382ENST00000369041p.P381Ac.1141C>GSubstitution - Missense
ASTN1ENSG00000152092ENST00000367654p.N442Kc.1326C>ASubstitution - Missense
USH2AENSG00000042781ENST00000366942p.Y568Fc.1703A>TSubstitution - Missense
CEP152ENSG00000103995ENST00000380950p.P1243Ac.3727C>GSubstitution - Missense
CEP152ENSG00000103995ENST00000380950p.R957Wc.2869C>TSubstitution - Missense
MAPKBP1ENSG00000137802ENST00000456763p.K1182Kc.3546G>ASubstitution - coding silent
ATXN7L3ENSG00000087152ENST00000454077p.N308Nc.924C>TSubstitution - coding silent
ENST00000301659_v70p.R52Wc.154C>TSubstitution - Missense
KIAA0100ENSG00000007202ENST00000528896p.R462Qc.1385G>ASubstitution - Missense
RECQL5ENSG00000108469ENST00000317905p.G885Sc.2653G>ASubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.R585Gc.1753C>GSubstitution - Missense
IL12RB1ENSG00000096996ENST00000593993p.P3Lc.8C>TSubstitution - Missense
SOGA2ENSG00000168502ENST00000306285p.A523Ac.1569C>TSubstitution - coding silent
EPB41L3ENSG00000082397ENST00000544123p.K38Nc.114G>CSubstitution - Missense
PPM1NENSG00000213889ENST00000324688p.S152Sc.456G>CSubstitution - coding silent
VPS16ENSG00000215305ENST00000380443p.K295Mc.884A>TSubstitution - Missense
LILRB3ENSG00000204577ENST00000346401p.V553Vc.1659G>ASubstitution - coding silent
PARVBENSG00000188677ENST00000338758p.L115Mc.343C>ASubstitution - Missense
AIFM3ENSG00000183773ENST00000405089p.Q400Hc.1200G>TSubstitution - Missense
AIFM3ENSG00000183773ENST00000335375p.Q382Hc.1146G>TSubstitution - Missense
OBSL1ENSG00000124006ENST00000373873p.R284Hc.851G>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000357570p.L1261Fc.3781C>TSubstitution - Missense
SPTBN1ENSG00000115306ENST00000356805p.A1984Ac.5952A>GSubstitution - coding silent
HEG1ENSG00000173706ENST00000311127p.?c.3733+10C>AUnknown
PROKR1ENSG00000169618ENST00000303786p.C296Rc.886T>CSubstitution - Missense
GTSE1ENSG00000075218ENST00000454366p.E77Kc.229G>ASubstitution - Missense
PARVBENSG00000188677ENST00000406477p.L148Mc.442C>ASubstitution - Missense
FYCO1ENSG00000163820ENST00000296137p.S580Gc.1738A>GSubstitution - Missense
MAST4ENSG00000069020ENST00000405643p.P1642Lc.4925C>TSubstitution - Missense
TRIM56ENSG00000169871ENST00000306085p.A412Sc.1234G>TSubstitution - Missense
TRIM56ENSG00000169871ENST00000306085p.A412Sc.1234G>TSubstitution - Missense
ZDHHC4ENSG00000136247ENST00000396706p.F68Cc.203T>GSubstitution - Missense
ZNF273ENSG00000198039ENST00000476120p.I450Vc.1348A>GSubstitution - Missense
RELNENSG00000189056ENST00000343529p.G1089Ac.3266G>CSubstitution - Missense
PMPCBENSG00000105819ENST00000249269p.R15Gc.43C>GSubstitution - Missense
POLR2JENSG00000005075ENST00000292614p.F105Fc.315T>CSubstitution - coding silent
POM121CENSG00000135213ENST00000453279p.P715Pc.2145G>ASubstitution - coding silent
XM_291321.3p.V502Gc.1505T>GSubstitution - Missense
IL12RB1ENSG00000096996ENST00000430026p.P3Lc.8C>TSubstitution - Missense
FAM46DENSG00000174016ENST00000538312p.V137Ic.409G>ASubstitution - Missense
UPRTENSG00000094841ENST00000373379p.P8Lc.23C>TSubstitution - Missense
ENST00000359737p.S347Sc.1041C>TSubstitution - coding silent
ENST00000396734p.S230Sc.690G>CSubstitution - coding silent
ZNF541ENSG00000118156ENST00000391901p.M857Vc.2569A>GSubstitution - Missense
ENST00000357909p.S452Sc.1356G>ASubstitution - coding silent
FLYWCH1ENSG00000059122ENST00000416288p.T423Mc.1268C>TSubstitution - Missense
PTPN18ENSG00000072135ENST00000175756p.V227Vc.681C>ASubstitution - coding silent
ADPRHENSG00000144843ENST00000357003p.A310Tc.928G>ASubstitution - Missense
PPP2R3AENSG00000073711ENST00000264977p.P1122Lc.3365C>TSubstitution - Missense
PPP2R3AENSG00000073711ENST00000334546p.P501Lc.1502C>TSubstitution - Missense
CLGNENSG00000153132ENST00000325617p.?c.218+9T>GUnknown
DCHS2ENSG00000197410ENST00000357232p.P2842Pc.8526G>ASubstitution - coding silent
MFSD10ENSG00000109736ENST00000355443p.F210Fc.630C>TSubstitution - coding silent
SLC12A2ENSG00000064651ENST00000262461p.E1140Qc.3418G>CSubstitution - Missense
SERINC5ENSG00000164300ENST00000507668p.K384Kc.1152A>GSubstitution - coding silent
MCHR2ENSG00000152034ENST00000369212p.T66Kc.197C>ASubstitution - Missense
RTTNENSG00000176225ENST00000255674p.R1378Rc.4134G>ASubstitution - coding silent
SOGA2ENSG00000168502ENST00000359865p.A1198Ac.3594C>TSubstitution - coding silent
LAMA4ENSG00000112769ENST00000389463p.D1757Yc.5269G>TSubstitution - Missense
TGFBR1ENSG00000106799ENST00000374994p.M144Ic.432G>TSubstitution - Missense
TAF2ENSG00000064313ENST00000378164p.?c.300-5C>TUnknown
TAF2ENSG00000064313ENST00000378164p.?c.300-5C>TUnknown
PALM2-AKAP2ENSG00000157654ENST00000374530p.L875Lc.2625G>TSubstitution - coding silent
ACTL7AENSG00000187003ENST00000333999p.T298Kc.893C>ASubstitution - Missense
OR13C9ENSG00000136839ENST00000259362p.V154Ic.460G>ASubstitution - Missense
GABRR1ENSG00000146276ENST00000454853p.D85Dc.255T>CSubstitution - coding silent
NM_139285.1p.R779Kc.2336G>ASubstitution - Missense
CNTNAP1ENSG00000108797ENST00000264638p.V1302Mc.3904G>ASubstitution - Missense
PCTPENSG00000141179ENST00000268896p.A160Vc.479C>TSubstitution - Missense
ABCC3ENSG00000108846ENST00000285238p.P796Pc.2388A>GSubstitution - coding silent
USP32ENSG00000170832ENST00000300896p.G556Ec.1667G>ASubstitution - Missense
ENSG00000272333ENST00000222270p.S1481Pc.4441T>CSubstitution - Missense
PCDHGB6ENSG00000253305ENST00000520790p.K65Nc.195G>CSubstitution - Missense
PCDHGA10ENSG00000253846ENST00000398610p.A699Vc.2096C>TSubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.T2331Tc.6993G>TSubstitution - coding silent
TRPM6ENSG00000119121ENST00000360774p.V1786Ic.5356G>ASubstitution - Missense
GPSM1ENSG00000160360ENST00000354753p.L599Pc.1796T>CSubstitution - Missense
ENST00000249399p.P81Pc.243C>TSubstitution - coding silent
LGALS4ENSG00000171747ENST00000307751p.S258Sc.774C>TSubstitution - coding silent
PCDHA2ENSG00000204969ENST00000378132p.H511Hc.1533C>TSubstitution - coding silent
SYNPOENSG00000171992ENST00000307662p.A35Ec.104C>ASubstitution - Missense
SYNPOENSG00000171992ENST00000394243p.A279Ec.836C>ASubstitution - Missense
FAT2ENSG00000086570ENST00000261800p.P2683Pc.8049T>CSubstitution - coding silent
MUC21ENSG00000204544ENST00000376296p.A162Vc.485C>TSubstitution - Missense
SLC26A3ENSG00000091138ENST00000340010p.?c.1408-3C>AUnknown
OR2F1ENSG00000213215ENST00000392899p.L51Pc.152T>CSubstitution - Missense
RPL19ENSG00000108298ENST00000225430p.V57Lc.169G>CSubstitution - Missense
NCAM2ENSG00000154654ENST00000400546p.?c.2283-3T>CUnknown
KRTAP17-1ENSG00000186860ENST00000334202p.E15Gc.44A>GSubstitution - Missense
ZNF721ENSG00000182903ENST00000511833p.H575Hc.1725T>CSubstitution - coding silent
ZNF721ENSG00000182903ENST00000338977p.H345Hc.1035T>CSubstitution - coding silent
SAMD9ENSG00000205413ENST00000379958p.Y1253Cc.3758A>GSubstitution - Missense
CYC1ENSG00000179091ENST00000318911p.?c.326+6C>TUnknown
PREX2ENSG00000046889ENST00000288368p.K220Kc.660G>ASubstitution - coding silent
ALPK2ENSG00000198796ENST00000361673p.G544Gc.1632A>CSubstitution - coding silent
EPB41L3ENSG00000082397ENST00000341928p.K38Nc.114G>CSubstitution - Missense
ZBTB14ENSG00000198081ENST00000357006p.T225Ic.674C>TSubstitution - Missense
VPS16ENSG00000215305ENST00000380445p.K609Mc.1826A>TSubstitution - Missense
CECR2ENSG00000099954ENST00000400585p.E1055Ac.3164A>CSubstitution - Missense
PRMT2ENSG00000160310ENST00000397637p.D198Dc.594T>CSubstitution - coding silent
PRKRAENSG00000180228ENST00000325748p.S217Sc.651C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.R26234Cc.78700C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.R26301Cc.78901C>TSubstitution - Missense
NM_003319p.R26109Cc.78325C>TSubstitution - Missense
SLC39A10ENSG00000196950ENST00000359634p.N389Hc.1165A>CSubstitution - Missense
ADCY3ENSG00000138031ENST00000260600p.R796Hc.2387G>ASubstitution - Missense
ITGADENSG00000156886ENST00000389202p.R500Rc.1500G>ASubstitution - coding silent
MGRN1ENSG00000102858ENST00000262370p.R456Rc.1366C>ASubstitution - coding silent
ITFG1ENSG00000129636ENST00000320640p.T148Tc.444C>TSubstitution - coding silent
SIGLEC12ENSG00000254521ENST00000291707p.R252Tc.755G>CSubstitution - Missense
LILRB3ENSG00000204577ENST00000391750p.V541Vc.1623G>ASubstitution - coding silent
VSTM1ENSG00000189068ENST00000338372p.T84Mc.251C>TSubstitution - Missense
NM_206943.1p.H388Rc.1163A>GSubstitution - Missense
SLC30A6ENSG00000152683ENST00000282587p.R304Rc.910C>ASubstitution - coding silent
EHD3ENSG00000013016ENST00000322054p.V397Vc.1191G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.H3757Qc.11271C>GSubstitution - Missense
ENST00000405167p.D3757Ec.11271C>GSubstitution - Missense
ENST00000405167p.S1018Cc.3053C>GSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.V2882Ic.8644G>ASubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.V2882Ic.8644G>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.S1117Sc.3351T>CSubstitution - coding silent
ENST00000318252p.S846Sc.2538T>CSubstitution - coding silent
ZIK1ENSG00000171649ENST00000307468p.V311Dc.932T>ASubstitution - Missense
NLRP5ENSG00000171487ENST00000390649p.A1084Ac.3252G>TSubstitution - coding silent
FUT3ENSG00000171124ENST00000303225p.D310Ec.930C>GSubstitution - Missense
COG1ENSG00000166685ENST00000299886p.C358Yc.1073G>ASubstitution - Missense
KCNJ2ENSG00000123700ENST00000243457p.E118Dc.354G>CSubstitution - Missense
ATP6V1C2ENSG00000143882ENST00000272238p.?c.825+3G>AUnknown
PDIA6ENSG00000143870ENST00000272227p.I286Vc.856A>GSubstitution - Missense
ACAA1ENSG00000060971ENST00000333167p.A417Ac.1251C>GSubstitution - coding silent
ULK4ENSG00000168038ENST00000301831p.L769Lc.2307C>TSubstitution - coding silent
DCTN1ENSG00000204843ENST00000361874p.A1254Sc.3760G>TSubstitution - Missense
DUSP11ENSG00000144048ENST00000272444p.Y336Sc.1007A>CSubstitution - Missense
EXOC6BENSG00000144036ENST00000272427p.H589Rc.1766A>GSubstitution - Missense
DYSFENSG00000135636ENST00000410020p.P1602Pc.4806C>TSubstitution - coding silent
CDH18ENSG00000145526ENST00000507958p.?c.811+3A>GUnknown
CDH18ENSG00000145526ENST00000382275p.?c.811+3A>GUnknown
PDZD2ENSG00000133401ENST00000282493p.T564Ac.1690A>GSubstitution - Missense
CDH6ENSG00000113361ENST00000265071p.G96*c.286G>TSubstitution - Nonsense
CDH6ENSG00000113361ENST00000265071p.G96Vc.287G>TSubstitution - Missense
IQCEENSG00000106012ENST00000402050p.L215Lc.645G>ASubstitution - coding silent
PTPN12ENSG00000127947ENST00000248594p.L481Ic.1441T>ASubstitution - Missense
DPP10ENSG00000175497ENST00000310323p.Q280Hc.840A>CSubstitution - Missense
ENST00000381114p.I355Tc.1064T>CSubstitution - Missense
OBSL1ENSG00000124006ENST00000404537p.R284Hc.851G>ASubstitution - Missense
DESENSG00000175084ENST00000373960p.E282Qc.844G>CSubstitution - Missense
FBXO36ENSG00000153832ENST00000283946p.S140Sc.420G>ASubstitution - coding silent
COL4A4ENSG00000081052ENST00000396625p.G733Vc.2198G>TSubstitution - Missense
USP40ENSG00000085982ENST00000450966p.R1088Hc.3263G>ASubstitution - Missense
CHRNGENSG00000196811ENST00000389494p.?c.196-7C>AUnknown
FLRT2ENSG00000185070ENST00000330753p.T292Tc.876T>CSubstitution - coding silent
GPHNENSG00000171723ENST00000478722p.C154Yc.461G>ASubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.Q1181Qc.3543A>GSubstitution - coding silent
TLN2ENSG00000171914ENST00000306829p.?c.5883+5G>AUnknown
RYR3ENSG00000198838ENST00000389232p.?c.4308+8C>TUnknown
PARP4ENSG00000102699ENST00000381989p.L1577Fc.4729C>TSubstitution - Missense
PARP4ENSG00000102699ENST00000381989p.T1574Tc.4722A>TSubstitution - coding silent
SPEF2ENSG00000152582ENST00000282469p.E176*c.526G>TSubstitution - Nonsense
BCAR1ENSG00000050820ENST00000418647p.R589Wc.1765C>TSubstitution - Missense
BCAR1ENSG00000050820ENST00000162330p.R543Wc.1627C>TSubstitution - Missense
C7ENSG00000112936ENST00000313164p.N66Dc.196A>GSubstitution - Missense
GCSHENSG00000140905ENST00000315467p.S72Nc.215G>ASubstitution - Missense
MRPL10ENSG00000159111ENST00000351111p.P226Pc.678C>TSubstitution - coding silent
ENST00000393466p.K1204Kc.3612A>GSubstitution - coding silent
CHADENSG00000136457ENST00000258969p.Q83Hc.249G>TSubstitution - Missense
ZNF177ENSG00000188629ENST00000434737p.I96Tc.287T>CSubstitution - Missense
ZNF177ENSG00000188629ENST00000343499p.I96Tc.287T>CSubstitution - Missense
SIRPB1ENSG00000101307ENST00000279477p.T302Ic.905C>TSubstitution - Missense
CERKLENSG00000188452ENST00000339098p.S397Nc.1190G>ASubstitution - Missense
MYO1BENSG00000128641ENST00000392318p.?c.2631+8G>CUnknown
MYO1BENSG00000128641ENST00000339514p.?c.2457+8G>CUnknown
BARD1ENSG00000138376ENST00000260947p.V154Fc.460G>TSubstitution - Missense
TDRD15ENSG00000218819ENST00000405799p.C39Rc.115T>CSubstitution - Missense
ARFGEF1ENSG00000066777ENST00000262215p.E1548Kc.4642G>ASubstitution - Missense
MYBL1ENSG00000185697ENST00000522677p.G197Vc.590G>TSubstitution - Missense
ASPHENSG00000198363ENST00000379454p.T56Tc.168G>ASubstitution - coding silent
GPRASP1ENSG00000198932ENST00000415986p.L34Lc.100C>TSubstitution - coding silent
DNAH9ENSG00000007174ENST00000262442p.I2422Vc.7264A>GSubstitution - Missense
CCDC144AENSG00000170160ENST00000456009p.T863Tc.2589G>ASubstitution - coding silent
QRICH2ENSG00000129646ENST00000262765p.A928Tc.2782G>ASubstitution - Missense
DNAH2ENSG00000183914ENST00000570791p.H401Hc.1203C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.C176fs*6c.521_522insGCGCInsertion - Frameshift
TP53ENSG00000141510ENST00000413465p.C176fs*6c.521_522insGCGCInsertion - Frameshift
ENST00000545858p.C83fs*6c.242_243insGCGCInsertion - Frameshift
ZNF492ENSG00000229676ENST00000456783p.N32fs*2c.94delADeletion - Frameshift
ZNF98ENSG00000197360ENST00000357774p.N73fs*2c.218delADeletion - Frameshift
ZNF98ENSG00000197360ENST00000357774p.N73fs*2c.218delADeletion - Frameshift
PRR12ENSG00000126464ENST00000418929p.A1996Ac.5988C>TSubstitution - coding silent
CEP89ENSG00000121289ENST00000305768p.K306Kc.918A>GSubstitution - coding silent
ENST00000456956p.Y117Hc.349T>CSubstitution - Missense
C20orf112ENSG00000197183ENST00000326071p.Y117Hc.349T>CSubstitution - Missense
SIGLEC10ENSG00000142512ENST00000339313p.L390Mc.1168C>ASubstitution - Missense
RPN2ENSG00000118705ENST00000237530p.L41Lc.123G>CSubstitution - coding silent
MYH7BENSG00000078814ENST00000262873p.V554Vc.1662C>GSubstitution - coding silent
GRM8ENSG00000179603ENST00000339582p.D466Nc.1396G>ASubstitution - Missense
NM_002200.3p.D60Gc.179A>GSubstitution - Missense
CLUHENSG00000132361ENST00000435359p.P122Pc.366G>ASubstitution - coding silent
FAM222BENSG00000173065ENST00000452648p.T383Mc.1148C>TSubstitution - Missense
FAM222BENSG00000173065ENST00000341217p.T383Mc.1148C>TSubstitution - Missense
ENST00000005905p.R462Qc.1385G>ASubstitution - Missense
ENTHD2ENSG00000167302ENST00000300714p.A122Tc.364G>ASubstitution - Missense
AQP4ENSG00000171885ENST00000383168p.I238Mc.714C>GSubstitution - Missense
COL6A2ENSG00000142173ENST00000300527p.K796*c.2386A>TSubstitution - Nonsense
COL6A2ENSG00000142173ENST00000310645p.K796*c.2386A>TSubstitution - Nonsense
KRTAP10-4ENSG00000215454ENST00000400374p.P216Lc.647C>TSubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.P166Lc.497C>TSubstitution - Missense
KIAA0232ENSG00000170871ENST00000307659p.G1378Rc.4132G>ASubstitution - Missense
FRG2CENSG00000172969ENST00000308062p.E31Vc.92A>TSubstitution - Missense
PPBPENSG00000163736ENST00000296028p.R62Lc.185G>TSubstitution - Missense
KRTAP4-11ENSG00000212721ENST00000391413p.S48fs*>148c.142delADeletion - Frameshift
KRTAP4-6ENSG00000198090ENST00000345847p.R106Rc.318T>CSubstitution - coding silent
KRTAP1-1ENSG00000188581ENST00000306271p.T19Tc.57C>ASubstitution - coding silent
TOP2AENSG00000131747ENST00000423485p.R635Hc.1904G>ASubstitution - Missense
GSDMAENSG00000167914ENST00000301659p.R52Wc.154C>TSubstitution - Missense
SUCOENSG00000094975ENST00000263688p.T347Ac.1039A>GSubstitution - Missense
SUCOENSG00000094975ENST00000367723p.T506Ac.1516A>GSubstitution - Missense
ATP1A2ENSG00000018625ENST00000361216p.A820Ac.2460C>ASubstitution - coding silent
C1orf111ENSG00000171722ENST00000367935p.?c.218-3C>TUnknown
NCAPD3ENSG00000151503ENST00000534548p.?c.3574-9T>CUnknown
ADAMTS8ENSG00000134917ENST00000257359p.L21_P22insLc.39_40insCTGInsertion - In frame
ADAMTS8ENSG00000134917ENST00000257359p.L21_P22insLc.39_40insCTGInsertion - In frame
TNNI2ENSG00000130598ENST00000381906p.D120Dc.360T>CSubstitution - coding silent
PLEKHA7ENSG00000166689ENST00000355661p.G636Sc.1906G>ASubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.E2692Kc.8074G>ASubstitution - Missense
ENST00000396725_v65p.S558Pc.1672T>CSubstitution - Missense
LEPREL2ENSG00000110811ENST00000396725p.S374Pc.1120T>CSubstitution - Missense
CACNA1EENSG00000198216ENST00000367570p.L1310Fc.3928C>TSubstitution - Missense
PTPN6ENSG00000111679ENST00000399448p.?c.522+6G>AUnknown
ENST00000260246p.?c.562-3C>TUnknown
MUC6ENSG00000184956ENST00000421673p.S1642Cc.4925C>GSubstitution - Missense
ELP4ENSG00000109911ENST00000350638p.K226Ec.676A>GSubstitution - Missense
ELP4ENSG00000109911ENST00000395934p.K226Ec.676A>GSubstitution - Missense
PEX11BENSG00000131779ENST00000369306p.L192Vc.574C>GSubstitution - Missense
NME3ENSG00000103024ENST00000219302p.V82Vc.246C>GSubstitution - coding silent
CRAMP1LENSG00000007545ENST00000397412p.N403fs*4c.1207delADeletion - Frameshift
CRAMP1LENSG00000007545ENST00000436138p.N400fs*4c.1198delADeletion - Frameshift
CRB1ENSG00000134376ENST00000367400p.S500Sc.1500A>GSubstitution - coding silent
DENND1BENSG00000213047ENST00000391979p.M1Ic.3G>CSubstitution - Missense
ACSM2AENSG00000183747ENST00000396104p.L121Lc.361C>TSubstitution - coding silent
FAM188AENSG00000148481ENST00000277632p.E143Ec.429G>ASubstitution - coding silent
PFKFB3ENSG00000170525ENST00000379775p.R511Qc.1532G>ASubstitution - Missense
ANK3ENSG00000151150ENST00000280772p.T950Tc.2850A>GSubstitution - coding silent
ANK3ENSG00000151150ENST00000355288p.T84Tc.252A>GSubstitution - coding silent
ENST00000395293p.T585Tc.1755A>GSubstitution - coding silent
BMP8AENSG00000183682ENST00000331593p.Q351*c.1051C>TSubstitution - Nonsense
MACF1ENSG00000127603ENST00000360115p.T2024Tc.6072T>GSubstitution - coding silent
RNF220ENSG00000187147ENST00000361799p.L216Lc.648G>ASubstitution - coding silent
LRRC43ENSG00000158113ENST00000339777p.P538Lc.1613C>TSubstitution - Missense
MLXIPENSG00000175727ENST00000319080p.V806Vc.2418C>GSubstitution - coding silent
RPRD2ENSG00000163125ENST00000369068p.E702Kc.2104G>ASubstitution - Missense
FLGENSG00000143631ENST00000368799p.S2565Sc.7695C>ASubstitution - coding silent
FLGENSG00000143631ENST00000368799p.R3878fs*3c.11628_11629delTGDeletion - Frameshift
MAST2ENSG00000086015ENST00000361297p.S246Sc.738C>TSubstitution - coding silent
PTHLHENSG00000087494ENST00000354417p.S39Tc.115T>ASubstitution - Missense
CPNE8ENSG00000139117ENST00000331366p.G392Gc.1176C>TSubstitution - coding silent
SYT10ENSG00000110975ENST00000228567p.P104Ac.310C>GSubstitution - Missense
PRTGENSG00000166450ENST00000389286p.C256Fc.767G>TSubstitution - Missense
NM_203494.1p.?c.250+6C>AUnknown
ENST00000447890p.N194Nc.582T>CSubstitution - coding silent
PICALMENSG00000073921ENST00000532317p.N194Nc.582T>CSubstitution - coding silent
CCDC81ENSG00000149201ENST00000445632p.R485Sc.1455A>CSubstitution - Missense
DLG2ENSG00000150672ENST00000280241p.?c.2146+4A>CUnknown
PRCPENSG00000137509ENST00000393399p.E133Kc.397G>ASubstitution - Missense
PRCPENSG00000137509ENST00000313010p.E112Kc.334G>ASubstitution - Missense
NOTCH2NLENSG00000213240ENST00000362074p.G17Vc.50G>TSubstitution - Missense
NOTCH2NLENSG00000213240ENST00000362074p.G17Vc.50G>TSubstitution - Missense
NOTCH2NLENSG00000213240ENST00000344859p.G17Vc.50G>TSubstitution - Missense
PRAMEF2ENSG00000120952ENST00000240189p.L122Lc.366G>TSubstitution - coding silent
PRAMEF2ENSG00000120952ENST00000240189p.S314Yc.941C>ASubstitution - Missense
RIMBP2ENSG00000060709ENST00000261655p.A275Ac.825G>ASubstitution - coding silent
OR13G1ENSG00000197437ENST00000359688p.P76Lc.227C>TSubstitution - Missense
NOTCH2NLENSG00000213240ENST00000362074p.T50Tc.150G>ASubstitution - coding silent
NOTCH2NLENSG00000213240ENST00000362074p.T50Tc.150G>ASubstitution - coding silent
NOTCH2NLENSG00000213240ENST00000344859p.T50Tc.150G>ASubstitution - coding silent
BCL10ENSG00000142867ENST00000370580p.?c.58-2A>GUnknown
DNAJB4ENSG00000162616ENST00000370763p.R291Kc.872G>ASubstitution - Missense
PTGFRENSG00000122420ENST00000370758p.E132Kc.394G>ASubstitution - Missense
PTGFRENSG00000122420ENST00000370756p.E132Kc.394G>ASubstitution - Missense
AIFM1ENSG00000156709ENST00000319908p.A109Ac.327C>TSubstitution - coding silent
SU_KSR1p.R189Wc.565C>TSubstitution - Missense
KSR1ENSG00000141068ENST00000319524p.R189Wc.565C>TSubstitution - Missense
ENST00000369584p.V146Ic.436G>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.F784Vc.2350T>GSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.S663Ic.1988G>TSubstitution - Missense
PLCB3ENSG00000149782ENST00000279230p.T317Tc.951G>ASubstitution - coding silent
ECE2ENSG00000145194ENST00000402825p.R731Rc.2193C>TSubstitution - coding silent
CSMD3ENSG00000164796ENST00000343508p.S623Ic.1868G>TSubstitution - Missense
COL1A1ENSG00000108821ENST00000225964p.F1326Fc.3978C>TSubstitution - coding silent
C1QTNF2ENSG00000145861ENST00000393975p.R73Wc.217C>TSubstitution - Missense
MYH7ENSG00000092054ENST00000355349p.L1100Lc.3300C>TSubstitution - coding silent
HYDINENSG00000157423ENST00000321489p.S900Sc.2700C>TSubstitution - coding silent
HYDINENSG00000157423ENST00000538248p.S927Sc.2781C>TSubstitution - coding silent
ENST00000316490p.S900Sc.2700C>TSubstitution - coding silent
IRAK4ENSG00000198001ENST00000448290p.R183Qc.548G>ASubstitution - Missense
HHATENSG00000054392ENST00000391905p.A496Ac.1488T>GSubstitution - coding silent
CR1LENSG00000197721ENST00000508064p.C454Yc.1361G>ASubstitution - Missense
NEK5ENSG00000197168ENST00000355568p.R230Cc.688C>TSubstitution - Missense
SU_NEK5p.R287Cc.859C>TSubstitution - Missense
PIBF1ENSG00000083535ENST00000326291p.Q635*c.1903C>TSubstitution - Nonsense
RAD9BENSG00000151164ENST00000392672p.L100Lc.298C>TSubstitution - coding silent
ATP2A2ENSG00000174437ENST00000539276p.L577Lc.1731T>GSubstitution - coding silent
ABCC4ENSG00000125257ENST00000376887p.S629Yc.1886C>ASubstitution - Missense
ABCC4ENSG00000125257ENST00000376887p.S629Yc.1886C>ASubstitution - Missense
MINPP1ENSG00000107789ENST00000536010p.V10Ic.28G>ASubstitution - Missense
LARP4BENSG00000107929ENST00000316157p.P326Pc.978C>TSubstitution - coding silent
CDHR1ENSG00000148600ENST00000372117p.S817Fc.2450C>TSubstitution - Missense
PEAR1ENSG00000187800ENST00000338302p.Q709Pc.2126A>CSubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.Y1487Hc.4459T>CSubstitution - Missense
AVILENSG00000135407ENST00000257861p.I194Tc.581T>CSubstitution - Missense
R3HDM2ENSG00000179912ENST00000441731p.?c.286-7C>GUnknown
RERGLENSG00000111404ENST00000229002p.D58Ec.174C>ASubstitution - Missense
LMO3ENSG00000048540ENST00000354662p.V90Vc.270G>TSubstitution - coding silent
NCKAP5LENSG00000167566ENST00000335999p.Y1019_Q1020>*c.3057_3059delCCAComplex - deletion inframe
SLC28A1ENSG00000156222ENST00000286749p.A312Pc.934G>CSubstitution - Missense
SLC28A1ENSG00000156222ENST00000537624p.A312Pc.934G>CSubstitution - Missense
EDRF1ENSG00000107938ENST00000356792p.A1232Vc.3695C>TSubstitution - Missense
CTBP2ENSG00000175029ENST00000309035p.L594Qc.1781T>ASubstitution - Missense
CTBP2ENSG00000175029ENST00000337195p.L54Qc.161T>ASubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.L496Mc.1486C>ASubstitution - Missense
ENST00000361282p.R779Hc.2336G>ASubstitution - Missense
NUDT14ENSG00000183828ENST00000392568p.D109Nc.325G>ASubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.R2794Qc.8381G>ASubstitution - Missense
MYH7ENSG00000092054ENST00000355349p.R108Cc.322C>TSubstitution - Missense
TOX4ENSG00000092203ENST00000262709p.A526Gc.1577C>GSubstitution - Missense
OR5B17ENSG00000197786ENST00000357377p.S261Rc.781A>CSubstitution - Missense
AF282265.1p.P206Ac.616C>GSubstitution - Missense
OR52L1ENSG00000183313ENST00000332249p.V99Ic.295G>ASubstitution - Missense
CARNS1ENSG00000172508ENST00000307823p.E9delEc.22_24delGAGDeletion - In frame
C11orf48ENSG00000162194ENST00000354588p.Q98Rc.293A>GSubstitution - Missense
IGHMBP2ENSG00000132740ENST00000255078p.G773Wc.2317G>TSubstitution - Missense
MRGPRDENSG00000172938ENST00000309106p.S269Sc.807C>TSubstitution - coding silent
KIF26BENSG00000162849ENST00000407071p.I868Ic.2604C>TSubstitution - coding silent
KIF26BENSG00000162849ENST00000407071p.I868Ic.2604C>TSubstitution - coding silent
WDR64ENSG00000162843ENST00000366552p.R239Tc.716G>CSubstitution - Missense
GBF1ENSG00000107862ENST00000369983p.S1275Pc.3823T>CSubstitution - Missense
KDM4DENSG00000186280ENST00000335080p.R236Qc.707G>ASubstitution - Missense
IDI2ENSG00000148377ENST00000277517p.I102Vc.304A>GSubstitution - Missense
ENST00000237841p.D42Nc.124G>ASubstitution - Missense
ARID2ENSG00000189079ENST00000334344p.A592Vc.1775C>TSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.Q943Ec.2827C>GSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.Q943Ec.2827C>GSubstitution - Missense
FLT1ENSG00000102755ENST00000539099p.T161Tc.483G>ASubstitution - coding silent


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