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

ES5 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

451 mutations reported
138 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
ENST00000319396p.T460Tc.1380C>GSubstitution - coding silent
ENST00000314689p.V176Lc.526G>CSubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.N2493Ic.7478A>TSubstitution - Missense
PRSS36ENSG00000178226ENST00000268281p.G797Cc.2389G>TSubstitution - Missense
SLC30A6ENSG00000152683ENST00000282587p.L351Pc.1052T>CSubstitution - Missense
STK11IPENSG00000144589ENST00000295641p.P560Sc.1678C>TSubstitution - Missense
FNIP1ENSG00000217128ENST00000510461p.T801Ac.2401A>GSubstitution - Missense
DDX31ENSG00000125485ENST00000372159p.A588Sc.1762G>TSubstitution - Missense
MSH5ENSG00000204410ENST00000375703p.?c.1686-6C>TUnknown
PSMD2ENSG00000175166ENST00000310118p.A644Tc.1930G>ASubstitution - Missense
CD44ENSG00000026508ENST00000428726p.R313Qc.938G>ASubstitution - Missense
AP3D1ENSG00000065000ENST00000356926p.Q226Hc.678G>TSubstitution - Missense
TBC1D10CENSG00000175463ENST00000312390p.R412Rc.1236C>TSubstitution - coding silent
VAT1LENSG00000171724ENST00000302536p.R179Qc.536G>ASubstitution - Missense
TUBB1ENSG00000101162ENST00000217133p.R241Wc.721C>TSubstitution - Missense
DSG3ENSG00000134757ENST00000257189p.D415Ec.1245C>ASubstitution - Missense
MYOM1ENSG00000101605ENST00000356443p.?c.4484+3A>CUnknown
ENST00000404649p.V22_Q23insHLHFLVc.46_47ins18Insertion - In frame
MYO5BENSG00000167306ENST00000285039p.E960Kc.2878G>ASubstitution - Missense
PUM2ENSG00000055917ENST00000338086p.F298Fc.894C>TSubstitution - coding silent
NM_003319p.P11313Tc.33937C>ASubstitution - Missense
ADAD1ENSG00000164113ENST00000296513p.G479Ec.1436G>ASubstitution - Missense
PORENSG00000127948ENST00000461988p.I37Mc.111C>GSubstitution - Missense
SP100ENSG00000067066ENST00000264052p.F734Lc.2200T>CSubstitution - Missense
SIPA1L3ENSG00000105738ENST00000222345p.S1271Sc.3813C>TSubstitution - coding silent
ABCA13ENSG00000179869ENST00000435803p.L807Lc.2421C>TSubstitution - coding silent
POM121L2ENSG00000158553ENST00000444565p.P536Lc.1607C>TSubstitution - Missense
IFIH1ENSG00000115267ENST00000421365p.E215Dc.645A>TSubstitution - Missense
USP20ENSG00000136878ENST00000372429p.P395Sc.1183C>TSubstitution - Missense
NM_139056.1p.E210Dc.630G>TSubstitution - Missense
TTLL13ENSG00000213471ENST00000438251p.R83Qc.248G>ASubstitution - Missense
MCTP2ENSG00000140563ENST00000331706p.S274Sc.822C>TSubstitution - coding silent
VSTM1ENSG00000189068ENST00000366170p.R4Ic.11G>TSubstitution - Missense
ENST00000289348p.R67Qc.200G>ASubstitution - Missense
PCNXL2ENSG00000135749ENST00000430153p.V121Fc.361G>TSubstitution - Missense
CLIP1ENSG00000130779ENST00000358808p.L638_G639>Rc.1913_1915delTTGComplex - deletion inframe
HRNRENSG00000197915ENST00000368801p.?c.139-5T>CUnknown
NEK7ENSG00000151414ENST00000367385p.L177Ic.529C>ASubstitution - Missense
NBPF10ENSG00000163386ENST00000369338p.A5Vc.14C>TSubstitution - Missense
ANO7ENSG00000146205ENST00000402430p.V374fs*82c.1120_1121insGInsertion - Frameshift
RTCBENSG00000100220ENST00000216038p.R374Rc.1122G>ASubstitution - coding silent
PCDHGC3ENSG00000240184ENST00000308177p.P393Pc.1179G>ASubstitution - coding silent
SIPA1L3ENSG00000105738ENST00000222345p.A232Pc.694G>CSubstitution - Missense
ZNF318ENSG00000171467ENST00000361428p.P699Pc.2097T>CSubstitution - coding silent
PHF21AENSG00000135365ENST00000418153p.P652Tc.1954C>ASubstitution - Missense
PCNXL2ENSG00000135749ENST00000258229p.V822Fc.2464G>TSubstitution - Missense
HS6ST2ENSG00000171004ENST00000521489p.R349Wc.1045C>TSubstitution - Missense
COL18A1ENSG00000182871ENST00000359759p.?c.2920-7C>TUnknown
WIPF3ENSG00000122574ENST00000409290p.?c.480_1099+26del646Unknown
ZNF668ENSG00000167394ENST00000394983p.E418Dc.1254G>TSubstitution - Missense
HNRNPKENSG00000165119ENST00000376281p.S367Sc.1101C>TSubstitution - coding silent
EGFRENSG00000146648ENST00000275493p.T259Tc.777G>ASubstitution - coding silent
ENST00000316490p.T3625Kc.10874C>ASubstitution - Missense
MEGF8ENSG00000105429ENST00000251268p.Y1900Cc.5699A>GSubstitution - Missense
CCDC12ENSG00000160799ENST00000425441p.A106Tc.316G>ASubstitution - Missense
ENST00000372155p.A588Sc.1762G>TSubstitution - Missense
HNRNPKENSG00000165119ENST00000376264p.S367Sc.1101C>TSubstitution - coding silent
ENST00000545858p.R155Qc.464G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.R5522Wc.16564C>TSubstitution - Missense
PTPN14ENSG00000152104ENST00000366956p.K1037Kc.3111G>ASubstitution - coding silent
ENST00000399147_v68p.R94Cc.280C>TSubstitution - Missense
CELSR2ENSG00000143126ENST00000271332p.A1614Ac.4842C>ASubstitution - coding silent
MROH2BENSG00000171495ENST00000399564p.F127Ic.379T>ASubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.E4440_E4441ins18c.13314_13315ins54Insertion - In frame
TTNENSG00000155657ENST00000360870p.G5111Vc.15332G>TSubstitution - Missense
KLHL13ENSG00000003096ENST00000262820p.R266Cc.796C>TSubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.L1636Ic.4906C>ASubstitution - Missense
KIR3DX1ENSG00000104970ENST00000335056p.H143Nc.427C>ASubstitution - Missense
LRIG1ENSG00000144749ENST00000383703p.P1008Pc.3024G>ASubstitution - coding silent
IAH1ENSG00000134330ENST00000497473p.V177Ic.529G>ASubstitution - Missense
TSPEARENSG00000175894ENST00000323084p.L116Lc.346C>TSubstitution - coding silent
LAMB2ENSG00000172037ENST00000305544p.H1383Rc.4148A>GSubstitution - Missense
CCDC12ENSG00000160799ENST00000292314p.A93Tc.277G>ASubstitution - Missense
ENST00000338790p.G230Rc.688G>CSubstitution - Missense
FAT2ENSG00000086570ENST00000261800p.F2698Sc.8093T>CSubstitution - Missense
ENST00000319379p.L752Lc.2256C>TSubstitution - coding silent
ENST00000332088p.A91Ac.273C>ASubstitution - coding silent
NFRKBENSG00000170322ENST00000524794p.G577Gc.1731C>TSubstitution - coding silent
SRSF10ENSG00000188529ENST00000492112p.D66Dc.198C>TSubstitution - coding silent
SHCBP1ENSG00000171241ENST00000303383p.G428Dc.1283G>ASubstitution - Missense
NEFHENSG00000100285ENST00000310624p.Q315Hc.945G>TSubstitution - Missense
LANCL3ENSG00000147036ENST00000378619p.N9Sc.26A>GSubstitution - Missense
SLC16A5ENSG00000170190ENST00000450736p.I285Vc.853A>GSubstitution - Missense
NAE1ENSG00000159593ENST00000290810p.R163>SQc.488_489insTCAComplex - insertion inframe
C16orf11ENSG00000161992ENST00000409413p.G218Sc.652G>ASubstitution - Missense
KIAA1841ENSG00000162929ENST00000295031p.L663Lc.1987T>CSubstitution - coding silent
ANKRD6ENSG00000135299ENST00000339746p.V723Vc.2169G>TSubstitution - coding silent
FIGNENSG00000182263ENST00000333129p.P223Pc.669A>CSubstitution - coding silent
AMPHENSG00000078053ENST00000356264p.W385*c.1155G>ASubstitution - Nonsense
ADAMTS16ENSG00000145536ENST00000274181p.E210Dc.630G>TSubstitution - Missense
DAB2IPENSG00000136848ENST00000259371p.R170Qc.509G>ASubstitution - Missense
DCST1ENSG00000163357ENST00000368419p.A224Tc.670G>ASubstitution - Missense
TTYH3ENSG00000136295ENST00000403167p.?c.987+10G>TUnknown
EME2ENSG00000197774ENST00000307394p.P409Lc.1226C>TSubstitution - Missense
CACNA1DENSG00000157388ENST00000350061p.K1630Nc.4890G>TSubstitution - Missense
PF4ENSG00000163737ENST00000296029p.G79Gc.237A>GSubstitution - coding silent
NEDD4LENSG00000049759ENST00000400345p.R250Cc.748C>TSubstitution - Missense
CRIPAKENSG00000179979ENST00000324803p.C327Yc.980G>ASubstitution - Missense
IL12RB1ENSG00000096996ENST00000322153p.G187Gc.561A>TSubstitution - coding silent
SIENSG00000090402ENST00000264382p.V1353Ac.4058T>CSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.V860Ic.2578G>ASubstitution - Missense
ENST00000319396p.T460Tc.1380C>GSubstitution - coding silent
MSH5ENSG00000204410ENST00000375742p.?c.1737-6C>TUnknown
FER1L6ENSG00000214814ENST00000399018p.I1042Ic.3126C>ASubstitution - coding silent
GKN1ENSG00000169605ENST00000377938p.T181Mc.542C>TSubstitution - Missense
AGLENSG00000162688ENST00000370163p.L85Lc.255G>TSubstitution - coding silent
OR6C4ENSG00000179626ENST00000394256p.C125*c.375C>ASubstitution - Nonsense
SIPA1L2ENSG00000116991ENST00000366630p.L874Lc.2622C>TSubstitution - coding silent
ENSG00000234719ENST00000399147p.R94Cc.280C>TSubstitution - Missense
KARSENSG00000065427ENST00000319410p.C524Gc.1570T>GSubstitution - Missense
CGGBP1ENSG00000163320ENST00000462901p.Y20Yc.60T>CSubstitution - coding silent
ZNF337ENSG00000130684ENST00000376436p.D188Hc.562G>CSubstitution - Missense
SIGLEC6ENSG00000105492ENST00000425629p.S260Lc.779C>TSubstitution - Missense
KIAA1841ENSG00000162929ENST00000402291p.L663Lc.1987T>CSubstitution - coding silent
CEACAM5ENSG00000105388ENST00000221992p.G631Gc.1893G>CSubstitution - coding silent
MATN4ENSG00000124159ENST00000372754p.?c.644-4T>CUnknown
HPRENSG00000261701ENST00000540303p.A6Sc.16G>TSubstitution - Missense
ZNF79ENSG00000196152ENST00000342483p.T272Sc.815C>GSubstitution - Missense
ENST00000263187_v70p.T56Mc.167C>TSubstitution - Missense
UVRAGENSG00000198382ENST00000356136p.?c.271-6G>AUnknown
SPTAN1ENSG00000197694ENST00000372731p.F2460Fc.7380C>TSubstitution - coding silent
ROBO2ENSG00000185008ENST00000487694p.?c.982+7G>TUnknown
TP53ENSG00000141510ENST00000455263p.R248Qc.743G>ASubstitution - Missense
ENST00000317359p.A133Dc.398C>ASubstitution - Missense
ADCY10ENSG00000143199ENST00000367851p.S49Sc.147A>CSubstitution - coding silent
OR2AK2ENSG00000187080ENST00000366480p.L200fs*18c.596_597insCTInsertion - Frameshift
ERCC6L2ENSG00000182150ENST00000288985p.R359Ic.1076G>TSubstitution - Missense
FRMD4AENSG00000151474ENST00000264546p.Y222Yc.666T>CSubstitution - coding silent
BAG1ENSG00000107262ENST00000472232p.E241Dc.723G>TSubstitution - Missense
PSD3ENSG00000156011ENST00000286485p.K34Kc.102G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.P11438Tc.34312C>ASubstitution - Missense
DNAH2ENSG00000183914ENST00000389173p.R2106Cc.6316C>TSubstitution - Missense
GPAT2ENSG00000186281ENST00000359548p.G41Wc.121G>TSubstitution - Missense
ENST00000354677p.?c.1093+6T>AUnknown
SHROOM4ENSG00000158352ENST00000289292p.H876Hc.2628C>TSubstitution - coding silent
SLC6A18ENSG00000164363ENST00000324642p.G270Vc.809G>TSubstitution - Missense
JADE2ENSG00000043143ENST00000395003p.T188Mc.563C>TSubstitution - Missense
C9orf62ENSG00000178243ENST00000320778p.G58Gc.174G>TSubstitution - coding silent
CCNJLENSG00000135083ENST00000393977p.P394Pc.1182C>TSubstitution - coding silent
FAM83BENSG00000168143ENST00000306858p.D784Dc.2352T>CSubstitution - coding silent
HPENSG00000257017ENST00000228226p.A43Sc.127G>TSubstitution - Missense
ITIH4ENSG00000055955ENST00000346281p.R439Sc.1315C>ASubstitution - Missense
TTLL13ENSG00000213471ENST00000339615p.R83Qc.248G>ASubstitution - Missense
ITIH4ENSG00000055955ENST00000434759p.R351Sc.1051C>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
BTG1ENSG00000133639ENST00000256015p.S100Sc.300T>CSubstitution - coding silent
ENST00000314607_v71p.Y565fs*1c.1694_1695delACDeletion - Frameshift
MCTP2ENSG00000140563ENST00000357742p.S686Sc.2058C>TSubstitution - coding silent
IL2RAENSG00000134460ENST00000379959p.G145Gc.435G>ASubstitution - coding silent
SPTBENSG00000070182ENST00000542895p.R677Rc.2031C>GSubstitution - coding silent
OTX2ENSG00000165588ENST00000339475p.S16Tc.47G>CSubstitution - Missense
INADLENSG00000132849ENST00000371158p.K842fs*13c.2522_2523delAADeletion - Frameshift
COL25A1ENSG00000188517ENST00000399132p.P581Qc.1742C>ASubstitution - Missense
TBC1D25ENSG00000068354ENST00000376771p.H646Rc.1937A>GSubstitution - Missense
FYCO1ENSG00000163820ENST00000296137p.L24Pc.71T>CSubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.V1212Lc.3634G>TSubstitution - Missense
CDK20ENSG00000156345ENST00000325303p.Y271Sc.812A>CSubstitution - Missense
FAM91A1ENSG00000176853ENST00000334705p.?c.850-3C>TUnknown
SRSF10ENSG00000188529ENST00000374452p.D66Dc.198C>TSubstitution - coding silent
AP3D1ENSG00000065000ENST00000355272p.Q317Hc.951G>TSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.?c.848+8G>CUnknown
ENST00000368148p.E995Gc.2984A>GSubstitution - Missense
PPP1R13BENSG00000088808ENST00000202556p.G881Rc.2641G>ASubstitution - Missense
KARSENSG00000065427ENST00000302445p.C496Gc.1486T>GSubstitution - Missense
MPP5ENSG00000072415ENST00000261681p.Q653Kc.1957C>ASubstitution - Missense
REREENSG00000142599ENST00000400908p.G697Gc.2091T>CSubstitution - coding silent
TNKSENSG00000173273ENST00000310430p.M584Lc.1750A>TSubstitution - Missense
NCOA2ENSG00000140396ENST00000452400p.L1193Lc.3579T>ASubstitution - coding silent
PSD3ENSG00000156011ENST00000327040p.K568Kc.1704G>ASubstitution - coding silent
ENST00000381114p.A2622Ac.7866T>GSubstitution - coding silent
PRSS55ENSG00000184647ENST00000328655p.?c.598+1G>CUnknown
ZFHX3ENSG00000140836ENST00000268489p.S1517Sc.4551G>ASubstitution - coding silent
DVL3ENSG00000161202ENST00000313143p.G272Gc.816T>ASubstitution - coding silent
MIPOL1ENSG00000151338ENST00000545536p.S244Fc.731C>TSubstitution - Missense
AMPHENSG00000078053ENST00000428293p.W385*c.1155G>ASubstitution - Nonsense
FCRL4ENSG00000163518ENST00000271532p.L471Lc.1413G>TSubstitution - coding silent
ENST00000389821p.A164Dc.491C>ASubstitution - Missense
CHD7ENSG00000171316ENST00000423902p.S392Fc.1175C>TSubstitution - Missense
STAG2ENSG00000101972ENST00000218089p.T149fs*33c.443_446delTGACDeletion - Frameshift
PRPF8ENSG00000174231ENST00000304992p.Q192Ec.574C>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.P17810Tc.53428C>ASubstitution - Missense
ENST00000356127p.P17808Tc.53422C>ASubstitution - Missense
LANCL3ENSG00000147036ENST00000378621p.N9Sc.26A>GSubstitution - Missense
CRIPAKENSG00000179979ENST00000324803p.H369Dc.1105C>GSubstitution - Missense
KIRREL2ENSG00000126259ENST00000360202p.L223Pc.668T>CSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
OR4A16ENSG00000181961ENST00000314721p.H232Yc.694C>TSubstitution - Missense
SYT14ENSG00000143469ENST00000534859p.S488Cc.1463C>GSubstitution - Missense
NM_015057.1p.L4330Lc.12988T>CSubstitution - coding silent
IRF2BP2ENSG00000168264ENST00000366609p.L199Lc.597G>ASubstitution - coding silent
TMEM167BENSG00000215717ENST00000338272p.A60Gc.179C>GSubstitution - Missense
NBPF10ENSG00000163386ENST00000342960p.A276Vc.827C>TSubstitution - Missense
NFASCENSG00000163531ENST00000403080p.Q378Hc.1134A>TSubstitution - Missense
SPTBENSG00000070182ENST00000389722p.R677Rc.2031C>GSubstitution - coding silent
WDR81ENSG00000167716ENST00000409644p.G159Dc.476G>ASubstitution - Missense
CNTRLENSG00000119397ENST00000373855p.K2089Ec.6265A>GSubstitution - Missense
USP20ENSG00000136878ENST00000315480p.P395Sc.1183C>TSubstitution - Missense
USP20ENSG00000136878ENST00000372429p.P395Sc.1183C>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.R248Qc.743G>ASubstitution - Missense
GSTA1ENSG00000243955ENST00000334575p.D93fs*3c.277_280delGATADeletion - Frameshift
AGLENSG00000162688ENST00000361522p.L68Lc.204G>TSubstitution - coding silent
INTS3ENSG00000143624ENST00000456435p.L798Ic.2392C>ASubstitution - Missense
NFASCENSG00000163531ENST00000367172p.Q378Hc.1134A>TSubstitution - Missense
NFASCENSG00000163531ENST00000367171p.Q378Hc.1134A>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.?c.842+8G>CUnknown
SRSF10ENSG00000188529ENST00000344989p.D66Dc.198C>TSubstitution - coding silent
GOLGA8HENSG00000261794ENST00000566740p.?c.786+10C>GUnknown
MTHFD1ENSG00000100714ENST00000216605p.I516Tc.1547T>CSubstitution - Missense
FBXL19ENSG00000099364ENST00000380310p.S491Ic.1472G>TSubstitution - Missense
NM_019085.1p.S321Ic.962G>TSubstitution - Missense
IL12RB1ENSG00000096996ENST00000593993p.G187Gc.561A>TSubstitution - coding silent
ZNF567ENSG00000189042ENST00000536254p.T203Tc.609G>ASubstitution - coding silent
ENST00000335056_v70p.H143Nc.427C>ASubstitution - Missense
CLIP1ENSG00000130779ENST00000540338p.L649_G650>Rc.1946_1948delTTGComplex - deletion inframe
C4orf22ENSG00000197826ENST00000508675p.Y193Yc.579T>CSubstitution - coding silent
ZNF318ENSG00000171467ENST00000318149p.P699Pc.2097T>CSubstitution - coding silent
SVEP1ENSG00000165124ENST00000302728p.V721Fc.2161G>TSubstitution - Missense
ENST00000379700p.E126Dc.378G>TSubstitution - Missense
ERCC6L2ENSG00000182150ENST00000437817p.R170Ic.509G>TSubstitution - Missense
KLHL13ENSG00000003096ENST00000539496p.R269Cc.805C>TSubstitution - Missense
DIAPH2ENSG00000147202ENST00000373049p.Q628Hc.1884G>TSubstitution - Missense
BMS1ENSG00000165733ENST00000374518p.K937Nc.2811G>TSubstitution - Missense
KRTAP5-7ENSG00000244411ENST00000398536p.S69Sc.207C>TSubstitution - coding silent
VSIG8ENSG00000243284ENST00000368100p.?c.431-4G>TUnknown
DCDC1ENSG00000170959ENST00000342355p.A485Sc.1453G>TSubstitution - Missense
ANKRD35ENSG00000198483ENST00000355594p.H224Rc.671A>GSubstitution - Missense
INTS3ENSG00000143624ENST00000318967p.?c.2822-10C>AUnknown
MSH4ENSG00000057468ENST00000263187p.T56Mc.167C>TSubstitution - Missense
CGGBP1ENSG00000163320ENST00000309534p.Y20Yc.60T>CSubstitution - coding silent
DOCK3ENSG00000088538ENST00000266037p.L1636Ic.4906C>ASubstitution - Missense
PREX2ENSG00000046889ENST00000288368p.?c.1093+6T>AUnknown
NEDD4LENSG00000049759ENST00000382850p.R250Cc.748C>TSubstitution - Missense
RFTN2ENSG00000162944ENST00000295049p.?c.140-10G>TUnknown
SHROOM4ENSG00000158352ENST00000289292p.R475Ic.1424G>TSubstitution - Missense
PGCENSG00000096088ENST00000373025p.V61Mc.181G>ASubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.C1025*c.3075C>ASubstitution - Nonsense
HELZ2ENSG00000130589ENST00000467148p.N2493Nc.7479C>TSubstitution - coding silent
TRIM49CENSG00000204449ENST00000432771p.P278Lc.833C>TSubstitution - Missense
IGFN1ENSG00000163395ENST00000335211p.E59Dc.177G>CSubstitution - Missense
NFASCENSG00000163531ENST00000360049p.Q389Hc.1167A>TSubstitution - Missense
HIST1H1CENSG00000187837ENST00000343677p.P155Sc.463C>TSubstitution - Missense
ZNF256ENSG00000152454ENST00000282308p.E17Dc.51G>TSubstitution - Missense
KLHL6ENSG00000172578ENST00000341319p.C284Fc.851G>TSubstitution - Missense
SYT14ENSG00000143469ENST00000422431p.S526Cc.1577C>GSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.R1439Lc.4316G>TSubstitution - Missense
GALNT13ENSG00000144278ENST00000392825p.R476Qc.1427G>ASubstitution - Missense
SU_OBSCN.1p.R5392Wc.16174C>TSubstitution - Missense
TMPRSS9ENSG00000178297ENST00000332578p.R153Cc.457C>TSubstitution - Missense
COL18A1ENSG00000182871ENST00000359759p.V1275Lc.3823G>TSubstitution - Missense
TEKT1ENSG00000167858ENST00000338694p.E64*c.190G>TSubstitution - Nonsense
ENST00000272666p.S1424Yc.4271C>ASubstitution - Missense
GGA1ENSG00000100083ENST00000414350p.Q56Kc.166C>ASubstitution - Missense
CDK20ENSG00000156345ENST00000336654p.Y263Sc.788A>CSubstitution - Missense
BMPERENSG00000164619ENST00000297161p.V77Mc.229G>ASubstitution - Missense
OR5C1ENSG00000148215ENST00000373680p.W25*c.74G>ASubstitution - Nonsense
ENST00000448712p.T204Mc.611C>TSubstitution - Missense
ZNF44ENSG00000197857ENST00000355684p.R381Qc.1142G>ASubstitution - Missense
SMARCAL1ENSG00000138375ENST00000357276p.R586Wc.1756C>TSubstitution - Missense
FBP2ENSG00000130957ENST00000375337p.K307Nc.921G>TSubstitution - Missense
ENST00000426736p.P525Sc.1573C>TSubstitution - Missense
HJURPENSG00000123485ENST00000411486p.Y57Yc.171C>TSubstitution - coding silent
SH3BP4ENSG00000130147ENST00000344528p.G682Gc.2046G>ASubstitution - coding silent
B3GNT2ENSG00000170340ENST00000301998p.L14Lc.42G>ASubstitution - coding silent
B3GNT2ENSG00000170340ENST00000301998p.V241Lc.721G>CSubstitution - Missense
EHBP1ENSG00000115504ENST00000263991p.P749Ac.2245C>GSubstitution - Missense
ADCY5ENSG00000173175ENST00000462833p.R678Cc.2032C>TSubstitution - Missense
ENST00000505920_v68p.N76Nc.228C>TSubstitution - coding silent
ATP5L2ENSG00000249222ENST00000505920p.N76Nc.228C>TSubstitution - coding silent
FAM118AENSG00000100376ENST00000216214p.K106Mc.317A>TSubstitution - Missense
PNPLA3ENSG00000100344ENST00000216180p.T200Mc.599C>TSubstitution - Missense
PTPN23ENSG00000076201ENST00000265562p.P742Tc.2224C>ASubstitution - Missense
SCAPENSG00000114650ENST00000265565p.E1276Dc.3828G>TSubstitution - Missense
PGCENSG00000096088ENST00000425343p.V61Mc.181G>ASubstitution - Missense
FAM166AENSG00000188163ENST00000388932p.V260Fc.778G>TSubstitution - Missense
SLC34A3ENSG00000198569ENST00000361134p.G106Rc.316G>ASubstitution - Missense
AMER1ENSG00000184675ENST00000330258p.P300Tc.898C>ASubstitution - Missense
NM_152424.1p.P300Tc.898C>ASubstitution - Missense
RAB41ENSG00000147127ENST00000276066p.T196Pc.586A>CSubstitution - Missense
IL12RB1ENSG00000096996ENST00000430026p.G187Gc.561A>TSubstitution - coding silent
AP3D1ENSG00000065000ENST00000345016p.Q317Hc.951G>TSubstitution - Missense
ENST00000427965p.I302Fc.904A>TSubstitution - Missense
ZNF668ENSG00000167394ENST00000539836p.E441Dc.1323G>TSubstitution - Missense
CYP4F31PENSG00000178206ENST00000416266p.T69Ac.205A>GSubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.C1025*c.3075C>ASubstitution - Nonsense
SLC6A18ENSG00000164363ENST00000324642p.V388Ic.1162G>ASubstitution - Missense
CEP120ENSG00000168944ENST00000306467p.T41Ac.121A>GSubstitution - Missense
CEP120ENSG00000168944ENST00000395431p.T41Ac.121A>GSubstitution - Missense
TTC37ENSG00000198677ENST00000358746p.I1023Kc.3068T>ASubstitution - Missense
DIAPH2ENSG00000147202ENST00000324765p.Q628Hc.1884G>TSubstitution - Missense
GGA1ENSG00000100083ENST00000343632p.Q56Kc.166C>ASubstitution - Missense
KIAA1919ENSG00000173214ENST00000368847p.Y486Hc.1456T>CSubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.V1212Lc.3634G>TSubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.V721Fc.2161G>TSubstitution - Missense
C6orf58ENSG00000184530ENST00000329722p.?c.388+6T>CUnknown
EEF1E1ENSG00000124802ENST00000379715p.R126Rc.378C>TSubstitution - coding silent
IBTKENSG00000005700ENST00000306270p.G1327Gc.3981C>ASubstitution - coding silent
NF1ENSG00000196712ENST00000358273p.E1181*c.3541G>TSubstitution - Nonsense
NF1ENSG00000196712ENST00000358273p.E1181*c.3541G>TSubstitution - Nonsense
KIRREL2ENSG00000126259ENST00000262625p.L223Pc.668T>CSubstitution - Missense
ZNF567ENSG00000189042ENST00000360729p.T172Tc.516G>ASubstitution - coding silent
LAMP3ENSG00000078081ENST00000265598p.A95Vc.284C>TSubstitution - Missense
PCDHGC3ENSG00000240184ENST00000308177p.P393Pc.1179G>ASubstitution - coding silent
CYP2A13ENSG00000197838ENST00000330436p.G121Ec.362G>ASubstitution - Missense
ANKRD24ENSG00000089847ENST00000318934p.E590Dc.1770G>TSubstitution - Missense
ANKRD24ENSG00000089847ENST00000262970p.E680Dc.2040G>TSubstitution - Missense
ENST00000262969p.E456Dc.1368G>TSubstitution - Missense
ENST00000539307p.A33Sc.97G>TSubstitution - Missense
GIMAP5ENSG00000196329ENST00000358647p.F218Lc.654C>ASubstitution - Missense
ZNF783ENSG00000204946ENST00000434415p.L102Lc.304T>CSubstitution - coding silent
GALNT11ENSG00000178234ENST00000320311p.G99Gc.297T>CSubstitution - coding silent
EGFRENSG00000146648ENST00000344576p.T259Tc.777G>ASubstitution - coding silent
ENST00000316490_v65p.T3673Kc.11018C>ASubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.H798Yc.2392C>TSubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.H798Yc.2392C>TSubstitution - Missense
DAZAP1ENSG00000071626ENST00000233078p.N398Nc.1194C>TSubstitution - coding silent
MEGF8ENSG00000105429ENST00000334370p.Y2292Cc.6875A>GSubstitution - Missense
ENST00000251268_v61p.Y2359Cc.7076A>GSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.V932Ic.2794G>ASubstitution - Missense
GALNT13ENSG00000144278ENST00000409237p.R476Qc.1427G>ASubstitution - Missense
MFSD7ENSG00000169026ENST00000322224p.P223Pc.669C>TSubstitution - coding silent
WFS1ENSG00000109501ENST00000226760p.T125Tc.375C>TSubstitution - coding silent
ZNF70ENSG00000187792ENST00000341976p.Q37*c.109C>TSubstitution - Nonsense
KIAA0196ENSG00000164961ENST00000318410p.P360Qc.1079C>ASubstitution - Missense
NFASCENSG00000163531ENST00000339876p.Q378Hc.1134A>TSubstitution - Missense
FGF7ENSG00000140285ENST00000267843p.E141*c.421G>TSubstitution - Nonsense
SYTL2ENSG00000137501ENST00000359152p.R510Hc.1529G>ASubstitution - Missense
NCOR2ENSG00000196498ENST00000405201p.S943Sc.2829C>TSubstitution - coding silent
NM_006312.2p.S943Sc.2829C>TSubstitution - coding silent
NEGR1ENSG00000172260ENST00000357731p.A318Dc.953C>ASubstitution - Missense
MTHFD1ENSG00000100714ENST00000555709p.I460Tc.1379T>CSubstitution - Missense
NUP155ENSG00000113569ENST00000231498p.F109Cc.326T>GSubstitution - Missense
ADAMTS18ENSG00000140873ENST00000282849p.G492Ac.1475G>CSubstitution - Missense
PLD2ENSG00000129219ENST00000263088p.Q304Qc.912A>GSubstitution - coding silent
PLD2ENSG00000129219ENST00000263088p.Q304Qc.912A>GSubstitution - coding silent
SEL1L2ENSG00000101251ENST00000284951p.Q109Kc.325C>ASubstitution - Missense
COL5A2ENSG00000204262ENST00000374866p.T407Nc.1220C>ASubstitution - Missense
STAG2ENSG00000101972ENST00000371160p.T149fs*33c.443_446delTGACDeletion - Frameshift
FBN3ENSG00000142449ENST00000270509p.A664Dc.1991C>ASubstitution - Missense
NFICENSG00000141905ENST00000443272p.L52Lc.156G>ASubstitution - coding silent
SLC35B4ENSG00000205060ENST00000378509p.V76Mc.226G>ASubstitution - Missense
FAM189A2ENSG00000135063ENST00000257515p.C101Fc.302G>TSubstitution - Missense
CACNA1DENSG00000157388ENST00000288139p.K1650Nc.4950G>TSubstitution - Missense
ITIH4ENSG00000055955ENST00000266041p.R439Sc.1315C>ASubstitution - Missense
AF381545.1p.P1031Pc.3093G>ASubstitution - coding silent
FRMD4BENSG00000114541ENST00000398540p.Y276Yc.828T>CSubstitution - coding silent
BMP1ENSG00000168487ENST00000306385p.P829Pc.2487C>TSubstitution - coding silent
CNGB3ENSG00000170289ENST00000320005p.L624Vc.1870C>GSubstitution - Missense
TNKSENSG00000173273ENST00000310430p.M584Lc.1750A>TSubstitution - Missense
FASNENSG00000169710ENST00000306749p.K235Ec.703A>GSubstitution - Missense
RIT2ENSG00000152214ENST00000326695p.G148Cc.442G>TSubstitution - Missense
COL18A1ENSG00000182871ENST00000355480p.V1040Lc.3118G>TSubstitution - Missense
COL18A1ENSG00000182871ENST00000355480p.?c.2215-7C>TUnknown
MRPS5ENSG00000144029ENST00000272418p.V404Ic.1210G>ASubstitution - Missense
GPAT2ENSG00000186281ENST00000359548p.?c.1429-4G>AUnknown
ENST00000420871_v68p.S69Yc.206C>ASubstitution - Missense
ANKRD36CENSG00000174501ENST00000420871p.S69Yc.206C>ASubstitution - Missense
ANKRD36CENSG00000174501ENST00000295246p.S239Yc.716C>ASubstitution - Missense
SEC14L5ENSG00000103184ENST00000251170p.P629Lc.1886C>TSubstitution - Missense
TOP2AENSG00000131747ENST00000423485p.G1198Rc.3592G>ASubstitution - Missense
TMEM156ENSG00000121895ENST00000381938p.S113Yc.338C>ASubstitution - Missense
LAMB2ENSG00000172037ENST00000305544p.?c.76+10C>TUnknown
CALD1ENSG00000122786ENST00000361675p.E299*c.895G>TSubstitution - Nonsense
AFG3L2ENSG00000141385ENST00000269143p.F487Fc.1461C>TSubstitution - coding silent
VSX1ENSG00000100987ENST00000376709p.K274fs*5c.822delADeletion - Frameshift
TTNENSG00000155657ENST00000342175p.P11505Tc.34513C>ASubstitution - Missense
ANO7ENSG00000146205ENST00000274979p.V375fs*82c.1123_1124insGInsertion - Frameshift
ENST00000362023p.H120Hc.360T>CSubstitution - coding silent
SIGLEC6ENSG00000105492ENST00000346477p.S233Lc.698C>TSubstitution - Missense
VSTM1ENSG00000189068ENST00000338372p.K22Nc.66G>TSubstitution - Missense
LRP5LENSG00000100068ENST00000402859p.D37Nc.109G>ASubstitution - Missense
ASCC2ENSG00000100325ENST00000397771p.D663delDc.1986_1988delCGADeletion - In frame
COL25A1ENSG00000188517ENST00000399126p.P581Qc.1742C>ASubstitution - Missense
COQ2ENSG00000173085ENST00000311469p.R320Qc.959G>ASubstitution - Missense
C4orf22ENSG00000197826ENST00000358105p.Y176Yc.528T>CSubstitution - coding silent
ZNF256ENSG00000152454ENST00000282308p.E17Dc.51G>TSubstitution - Missense
SLC16A5ENSG00000170190ENST00000580123p.I285Vc.853A>GSubstitution - Missense
GOLGA4ENSG00000144674ENST00000361924p.G1101Rc.3301G>CSubstitution - Missense
SCN5AENSG00000183873ENST00000413689p.?c.4300-3C>TUnknown
ENST00000333535_v68p.?c.4300-3C>TUnknown
SCN5AENSG00000183873ENST00000333535p.?c.4300-3C>TUnknown
GPR149ENSG00000174948ENST00000389740p.A201Gc.602C>GSubstitution - Missense
TTYH3ENSG00000136295ENST00000258796p.?c.1500+10G>TUnknown
WIPF3ENSG00000122574ENST00000409123p.?c.480_1099+26del646Unknown
ENST00000381114p.A2622Ac.7866T>GSubstitution - coding silent
CXCR2ENSG00000180871ENST00000318507p.S217Fc.650C>TSubstitution - Missense
PRKAG3ENSG00000115592ENST00000233944p.?c.230-7C>AUnknown
STK11IPENSG00000144589ENST00000295641p.P560Sc.1678C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.R248Qc.743G>ASubstitution - Missense
DAB2IPENSG00000136848ENST00000309989p.R74Qc.221G>ASubstitution - Missense
ENST00000349637p.G4140Rc.12418G>CSubstitution - Missense
LRP6ENSG00000070018ENST00000261349p.D103Yc.307G>TSubstitution - Missense
ROBO2ENSG00000185008ENST00000461745p.?c.934+7G>TUnknown
ENST00000357802p.F84Fc.252T>CSubstitution - coding silent
CDH26ENSG00000124215ENST00000348616p.G292Gc.876C>TSubstitution - coding silent
CDH26ENSG00000124215ENST00000244047p.G292Gc.876C>TSubstitution - coding silent
ZCCHC12ENSG00000174460ENST00000310164p.R217Mc.650G>TSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.R4810Wc.14428C>TSubstitution - Missense
OR2F1ENSG00000213215ENST00000392899p.S309Yc.926C>ASubstitution - Missense
SPTAN1ENSG00000197694ENST00000372739p.F2465Fc.7395C>TSubstitution - coding silent
CER1ENSG00000147869ENST00000380911p.V179Lc.535G>TSubstitution - Missense
SYT14ENSG00000143469ENST00000472886p.S462Cc.1385C>GSubstitution - Missense
PDE1BENSG00000123360ENST00000243052p.?c.410+10G>AUnknown
CCDC33ENSG00000140481ENST00000321288p.E1010Gc.3029A>GSubstitution - Missense
MPIENSG00000178802ENST00000352410p.P153Qc.458C>ASubstitution - Missense
FAM194BENSG00000165837ENST00000298738p.Y73Dc.217T>GSubstitution - Missense
TCP11L2ENSG00000166046ENST00000299045p.A282Sc.844G>TSubstitution - Missense
TAS2R9ENSG00000121381ENST00000240691p.D40Hc.118G>CSubstitution - Missense
MYCBP2ENSG00000005810ENST00000357337p.S4330Pc.12988T>CSubstitution - Missense
MYCBP2ENSG00000005810ENST00000407578p.S4368Pc.13102T>CSubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.P2926Tc.8776C>ASubstitution - Missense
TECTAENSG00000109927ENST00000392793p.D2034Nc.6100G>ASubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.G4185Rc.12553G>CSubstitution - Missense
PHF21AENSG00000135365ENST00000323180p.P606Tc.1816C>ASubstitution - Missense
MIB2ENSG00000197530ENST00000355826p.?c.1147-7C>AUnknown
ENST00000368148p.T711Pc.2131A>CSubstitution - Missense
NANOGENSG00000111704ENST00000229307p.S230Yc.689C>ASubstitution - Missense
GOLGA6L18ENSG00000215749ENST00000559949p.N187Dc.559A>GSubstitution - Missense
KIF21AENSG00000139116ENST00000361961p.T1343Ic.4028C>TSubstitution - Missense
KIF21AENSG00000139116ENST00000395670p.T1357Ic.4070C>TSubstitution - Missense
NM_015899.1p.S41*c.122C>ASubstitution - Nonsense
SCAF11ENSG00000139218ENST00000369367p.E1130Kc.3388G>ASubstitution - Missense
TEX26ENSG00000175664ENST00000380473p.T117Tc.351G>ASubstitution - coding silent
YARSENSG00000134684ENST00000373477p.P365fs*25c.1094delCDeletion - Frameshift
ZMYM4ENSG00000146463ENST00000314607p.Y565fs*1c.1694_1695delACDeletion - Frameshift
SH3D21ENSG00000214193ENST00000453908p.G205Gc.615G>CSubstitution - coding silent
CEP104ENSG00000116198ENST00000378230p.G913Rc.2737G>ASubstitution - Missense
SAAL1ENSG00000166788ENST00000524803p.R244Lc.731G>TSubstitution - Missense
E2F8ENSG00000129173ENST00000250024p.V251Mc.751G>ASubstitution - Missense
E2F8ENSG00000129173ENST00000250024p.E227Kc.679G>ASubstitution - Missense
ANGPTL1ENSG00000116194ENST00000367629p.T419Tc.1257C>TSubstitution - coding silent
FAM129AENSG00000135842ENST00000367511p.N104Kc.312T>ASubstitution - Missense
FRS2ENSG00000166225ENST00000299293p.I476Ic.1428C>TSubstitution - coding silent
FRS2ENSG00000166225ENST00000299293p.I476Ic.1428C>TSubstitution - coding silent
ENST00000298815_v65p.K767Ec.2299A>GSubstitution - Missense
ARHGAP42ENSG00000165895ENST00000298815p.K339Ec.1015A>GSubstitution - Missense
EPS8L3ENSG00000198758ENST00000369805p.Y16Hc.46T>CSubstitution - Missense
NEK7ENSG00000151414ENST00000367385p.D104Dc.312T>CSubstitution - coding silent
NEK7ENSG00000151414ENST00000367385p.R184Rc.552G>TSubstitution - coding silent
XM_372608.1p.P424Lc.1271C>TSubstitution - Missense
UCN3ENSG00000178473ENST00000380433p.A155Vc.464C>TSubstitution - Missense
JMJD1CENSG00000171988ENST00000399262p.P1745Ac.5233C>GSubstitution - Missense
JMJD1CENSG00000171988ENST00000402544p.P1526Ac.4576C>GSubstitution - Missense
PTCH2ENSG00000117425ENST00000372192p.G442Gc.1326G>ASubstitution - coding silent
TNFRSF8ENSG00000120949ENST00000263932p.A370Tc.1108G>ASubstitution - Missense
STARD9ENSG00000159433ENST00000290607p.R337Qc.1010G>ASubstitution - Missense
CYP4X1ENSG00000186377ENST00000371901p.P142Sc.424C>TSubstitution - Missense
AKAP6ENSG00000151320ENST00000280979p.K1512Ec.4534A>GSubstitution - Missense
MIPOL1ENSG00000151338ENST00000327441p.S275Fc.824C>TSubstitution - Missense
DCST1ENSG00000163357ENST00000295542p.A224Tc.670G>ASubstitution - Missense
GPR25ENSG00000170128ENST00000304244p.V141Mc.421G>ASubstitution - Missense


COSMIC

0 mutations reported
0 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