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KINGS-1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

689 mutations reported
258 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
KLF17ENSG00000171872ENST00000372299p.Q20Rc.59A>GSubstitution - Missense
SLC1A7ENSG00000162383ENST00000371494p.M239Tc.716T>CSubstitution - Missense
LRFN5ENSG00000165379ENST00000298119p.R303Rc.909G>ASubstitution - coding silent
CASZ1ENSG00000130940ENST00000377022p.V105Vc.315G>ASubstitution - coding silent
ANKRD36CENSG00000174501ENST00000456556p.R1601Hc.4802G>ASubstitution - Missense
OSBPL6ENSG00000079156ENST00000190611p.E670Ec.2010A>GSubstitution - coding silent
SLC25A35ENSG00000125434ENST00000380067p.G82Rc.244G>CSubstitution - Missense
SLC25A35ENSG00000125434ENST00000577745p.G82Rc.244G>CSubstitution - Missense
SKA1ENSG00000154839ENST00000285116p.F219Fc.657C>TSubstitution - coding silent
XM_051221.5p.G1057Cc.3169G>TSubstitution - Missense
USP40ENSG00000085982ENST00000450966p.T713Tc.2139G>ASubstitution - coding silent
PGAM4ENSG00000226784ENST00000458128p.L95Lc.285A>CSubstitution - coding silent
ZNF273ENSG00000198039ENST00000476120p.F128Lc.382T>CSubstitution - Missense
ENSG00000073169ENST00000380903p.V665Mc.1993G>ASubstitution - Missense
FBLENSG00000105202ENST00000221801p.V278Ac.833T>CSubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
VEGFAENSG00000112715ENST00000372055p.P163Rc.488C>GSubstitution - Missense
CACUL1ENSG00000151893ENST00000340214p.I212Tc.635T>CSubstitution - Missense
ANKFY1ENSG00000185722ENST00000433651p.R461Hc.1382G>ASubstitution - Missense
BCAR1ENSG00000050820ENST00000393422p.R561Wc.1681C>TSubstitution - Missense
TAGLN2ENSG00000158710ENST00000368096p.G94Rc.280G>CSubstitution - Missense
ENST00000545858p.R155Qc.464G>ASubstitution - Missense
HEPHENSG00000089472ENST00000519389p.K1131Kc.3393A>GSubstitution - coding silent
TMEM39BENSG00000121775ENST00000336294p.?c.352-7C>TUnknown
SU_KSR2p.V252Vc.756G>TSubstitution - coding silent
TAGLN2ENSG00000158710ENST00000320307p.G73Rc.217G>CSubstitution - Missense
RABIFENSG00000183155ENST00000367262p.L10Lc.28T>CSubstitution - coding silent
EME2ENSG00000197774ENST00000307394p.R367Qc.1100G>ASubstitution - Missense
PDE1AENSG00000115252ENST00000456212p.R285Hc.854G>ASubstitution - Missense
FAM189A2ENSG00000135063ENST00000377216p.E156delEc.463_465delGAGDeletion - In frame
RANBP6ENSG00000137040ENST00000259569p.D598Hc.1792G>CSubstitution - Missense
ZNF658ENSG00000196409ENST00000377626p.D367Ec.1101C>GSubstitution - Missense
SMARCA4ENSG00000127616ENST00000429416p.E1255Ec.3765G>ASubstitution - coding silent
ENSG00000212997ENST00000391679p.L29fs*29c.84_85insGInsertion - Frameshift
FOXN1ENSG00000109101ENST00000579795p.F329Fc.987C>TSubstitution - coding silent
ANKRD30BENSG00000180777ENST00000358984p.?c.2313+8C>GUnknown
C21orf62ENSG00000205929ENST00000536776p.T97Tc.291G>ASubstitution - coding silent
KCNQ2ENSG00000075043ENST00000359125p.L109Lc.327G>TSubstitution - coding silent
HSPA13ENSG00000155304ENST00000285667p.H64Yc.190C>TSubstitution - Missense
NPHP3ENSG00000113971ENST00000337331p.S758Sc.2274C>TSubstitution - coding silent
ZNF382ENSG00000161298ENST00000292928p.T375Tc.1125G>ASubstitution - coding silent
C8orf76ENSG00000189376ENST00000276704p.K148Ec.442A>GSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
FSCN1ENSG00000075618ENST00000382361p.?c.989+7G>AUnknown
MTSS1LENSG00000132613ENST00000338779p.T544Tc.1632C>TSubstitution - coding silent
STAM2ENSG00000115145ENST00000263904p.A65Gc.194C>GSubstitution - Missense
SCN2AENSG00000136531ENST00000375427p.R524Qc.1571G>ASubstitution - Missense
MAST2ENSG00000086015ENST00000372008p.R73Qc.218G>ASubstitution - Missense
HSPB11ENSG00000081870ENST00000371377p.I105Tc.314T>CSubstitution - Missense
ZNF382ENSG00000161298ENST00000439428p.T374Tc.1122G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.G245Sc.733G>ASubstitution - Missense
KIF6ENSG00000164627ENST00000538893p.S725Lc.2174C>TSubstitution - Missense
ABLIM3ENSG00000173210ENST00000504238p.A371Ac.1113T>CSubstitution - coding silent
TP53ENSG00000141510ENST00000455263p.R248Qc.743G>ASubstitution - Missense
DGKZENSG00000149091ENST00000454345p.A525Ac.1575G>ASubstitution - coding silent
SU_OBSCN.1p.A7958Tc.23872G>ASubstitution - Missense
ATP1A2ENSG00000018625ENST00000361216p.R65Lc.194G>TSubstitution - Missense
FMO4ENSG00000076258ENST00000367749p.E27fs*7c.76_77insTGGAInsertion - Frameshift
TMEM106CENSG00000134291ENST00000552561p.E192Kc.574G>ASubstitution - Missense
DNMBPENSG00000107554ENST00000324109p.V1068Gc.3203T>GSubstitution - Missense
XYLT2ENSG00000015532ENST00000017003p.P527Pc.1581C>ASubstitution - coding silent
OSBPL6ENSG00000079156ENST00000392505p.E695Ec.2085A>GSubstitution - coding silent
KIR2DL4ENSG00000189013ENST00000345540p.G67Vc.200G>TSubstitution - Missense
UPK1BENSG00000114638ENST00000264234p.R9Hc.26G>ASubstitution - Missense
PPARGENSG00000132170ENST00000287820p.I264Mc.792C>GSubstitution - Missense
COL6A6ENSG00000206384ENST00000358511p.R906Cc.2716C>TSubstitution - Missense
MGAT3ENSG00000128268ENST00000341184p.P85Sc.253C>TSubstitution - Missense
ABLIM3ENSG00000173210ENST00000309868p.A482Ac.1446T>CSubstitution - coding silent
KRT17ENSG00000128422ENST00000311208p.E111Ec.333G>ASubstitution - coding silent
ABCB8ENSG00000197150ENST00000358849p.?c.2016+8G>TUnknown
GPR112ENSG00000156920ENST00000394143p.A1522Vc.4565C>TSubstitution - Missense
LRRN3ENSG00000173114ENST00000308478p.N246Dc.736A>GSubstitution - Missense
NOTCH4ENSG00000204301ENST00000375023p.C222Cc.666C>TSubstitution - coding silent
PSMB8ENSG00000204264ENST00000374881p.R225Hc.674G>ASubstitution - Missense
SYVN1ENSG00000162298ENST00000377190p.T565Tc.1695G>ASubstitution - coding silent
PLCZ1ENSG00000139151ENST00000266505p.R583Rc.1749T>CSubstitution - coding silent
FAM186AENSG00000185958ENST00000327337p.L2175Rc.6524T>GSubstitution - Missense
DMXL2ENSG00000104093ENST00000251076p.?c.364+8G>AUnknown
TRIM58ENSG00000162722ENST00000366481p.L204fs*23c.603_612del10Deletion - Frameshift
MIEF2ENSG00000177427ENST00000323019p.E387Ec.1161G>ASubstitution - coding silent
KCTD9ENSG00000104756ENST00000221200p.?c.48+6G>AUnknown
TCFL5ENSG00000101190ENST00000335351p.E53Dc.159G>CSubstitution - Missense
AFF3ENSG00000144218ENST00000356421p.R659fs*33c.1977_1978delAGDeletion - Frameshift
USP40ENSG00000085982ENST00000450966p.T713Tc.2139G>ASubstitution - coding silent
ARHGEF28ENSG00000214944ENST00000296794p.A18Ac.54G>ASubstitution - coding silent
SIENSG00000090402ENST00000264382p.Y990Yc.2970T>CSubstitution - coding silent
PPP2R2BENSG00000156475ENST00000394409p.V119Fc.355G>TSubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.Y352Sc.1055A>CSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
YBX1ENSG00000065978ENST00000436427p.P300Sc.898C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T3083Tc.9249A>CSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.P776_K777insQVEVRGPc.2325_2326ins21Insertion - In frame
CD248ENSG00000174807ENST00000311330p.S443delSc.1326_1328delCTCDeletion - In frame
IGSF3ENSG00000143061ENST00000369483p.V489Mc.1465G>ASubstitution - Missense
SLAMF1ENSG00000117090ENST00000302035p.G156Rc.466G>ASubstitution - Missense
BCAR1ENSG00000050820ENST00000393420p.R561Wc.1681C>TSubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.P2351Pc.7053C>TSubstitution - coding silent
NT5DC2ENSG00000168268ENST00000307076p.L345Lc.1035G>ASubstitution - coding silent
KDM7AENSG00000006459ENST00000397560p.?c.559+4C>TUnknown
ANO7ENSG00000146205ENST00000402430p.P753Pc.2259G>CSubstitution - coding silent
ZNF343ENSG00000088876ENST00000278772p.R199Rc.595A>CSubstitution - coding silent
IDO1ENSG00000131203ENST00000522495p.K137Nc.411G>TSubstitution - Missense
ENST00000542622p.D151Nc.451G>ASubstitution - Missense
USP45ENSG00000123552ENST00000500704p.L814Lc.2442A>GSubstitution - coding silent
ANKRD12ENSG00000101745ENST00000262126p.H273Hc.819C>TSubstitution - coding silent
PPP2R2BENSG00000156475ENST00000336640p.V64Fc.190G>TSubstitution - Missense
OR13C2ENSG00000257019ENST00000542196p.S18Fc.53C>TSubstitution - Missense
TCF3ENSG00000071564ENST00000262965p.P650Tc.1948C>ASubstitution - Missense
SMC6ENSG00000163029ENST00000381272p.L1074Lc.3222C>TSubstitution - coding silent
EP400ENSG00000183495ENST00000333577p.I1828Tc.5483T>CSubstitution - Missense
EFHD2ENSG00000142634ENST00000375980p.V173Vc.519G>CSubstitution - coding silent
SCAPERENSG00000140386ENST00000538941p.?c.3361+6T>AUnknown
DNAJC14ENSG00000135392ENST00000357606p.R605Hc.1814G>ASubstitution - Missense
SLC9C2ENSG00000162753ENST00000367714p.Q518Kc.1552C>ASubstitution - Missense
NLRP3ENSG00000162711ENST00000391828p.S374Sc.1122C>TSubstitution - coding silent
ENST00000567107_v68p.K193Ec.577A>GSubstitution - Missense
KRTAP5-2ENSG00000205867ENST00000412090p.G99Gc.297C>TSubstitution - coding silent
MAST2ENSG00000086015ENST00000361297p.R188Qc.563G>ASubstitution - Missense
SERBP1ENSG00000142864ENST00000370995p.P156Lc.467C>TSubstitution - Missense
ENST00000312127_v68p.R162Sc.484C>ASubstitution - Missense
CPSF1ENSG00000071894ENST00000349769p.A412Ac.1236C>TSubstitution - coding silent
KCNQ2ENSG00000075043ENST00000344425p.L109Lc.327G>TSubstitution - coding silent
MLF1ENSG00000178053ENST00000355893p.S107fs*4c.318_321delTTCTDeletion - Frameshift
MCCC1ENSG00000078070ENST00000265594p.F333Fc.999C>TSubstitution - coding silent
MAMDC4ENSG00000177943ENST00000317446p.E865fs*127c.2589_2590insTTInsertion - Frameshift
ENST00000400460p.P52Pc.156G>ASubstitution - coding silent
NM_002711.2p.T729Tc.2187A>TSubstitution - coding silent
GRB10ENSG00000106070ENST00000398812p.P95Sc.283C>TSubstitution - Missense
UGT3A1ENSG00000145626ENST00000333811p.M163Tc.488T>CSubstitution - Missense
KIF6ENSG00000164627ENST00000541946p.S232Lc.695C>TSubstitution - Missense
PRAMEF1ENSG00000116721ENST00000332296p.V108Fc.322G>TSubstitution - Missense
KRT86ENSG00000170442ENST00000293525p.R316Sc.946C>ASubstitution - Missense
CDHR5ENSG00000099834ENST00000358353p.S515Wc.1544C>GSubstitution - Missense
ENST00000333815p.V364Ic.1090G>ASubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.D1405Gc.4214A>GSubstitution - Missense
SU_SK473p.I193Lc.577A>CSubstitution - Missense
NM_002094.1p.K221Kc.663G>ASubstitution - coding silent
RRBP1ENSG00000125844ENST00000377813p.V661Vc.1983G>ASubstitution - coding silent
CEP128ENSG00000100629ENST00000281129p.H497Rc.1490A>GSubstitution - Missense
ZNF536ENSG00000198597ENST00000355537p.R138Hc.413G>ASubstitution - Missense
MROH8ENSG00000101353ENST00000343811p.K188Qc.562A>CSubstitution - Missense
ENSG00000174093ENST00000312412p.T166Tc.498C>TSubstitution - coding silent
SMARCA4ENSG00000127616ENST00000358026p.E1255Ec.3765G>ASubstitution - coding silent
CBFA2T3ENSG00000129993ENST00000268679p.P81Pc.243G>ASubstitution - coding silent
ADAM18ENSG00000168619ENST00000265707p.?c.1631+5G>AUnknown
CLNKENSG00000109684ENST00000226951p.Y288Hc.862T>CSubstitution - Missense
ENST00000405167p.A3086Tc.9256G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.R3900Hc.11699G>ASubstitution - Missense
LATS1ENSG00000131023ENST00000253339p.T913Tc.2739T>GSubstitution - coding silent
USP34ENSG00000115464ENST00000398571p.L1203Lc.3607C>TSubstitution - coding silent
PCDHB14ENSG00000120327ENST00000239449p.T291Tc.873A>GSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.K777Qc.2329A>CSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.G245Sc.733G>ASubstitution - Missense
SLC37A2ENSG00000134955ENST00000308074p.V471Ic.1411G>ASubstitution - Missense
DSTENSG00000151914ENST00000370769p.D5587Nc.16759G>ASubstitution - Missense
OR4Q3ENSG00000182652ENST00000331723p.F257Fc.771C>TSubstitution - coding silent
NCAPD2ENSG00000010292ENST00000315579p.R676Cc.2026C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.T5966Ic.17897C>TSubstitution - Missense
TECTAENSG00000109927ENST00000392793p.H1400Yc.4198C>TSubstitution - Missense
LRP5ENSG00000162337ENST00000294304p.N664Nc.1992C>TSubstitution - coding silent
GOLGA8MENSG00000188626ENST00000563027p.S553Fc.1658C>TSubstitution - Missense
ZNF598ENSG00000167962ENST00000431526p.V633delVc.1896_1898delCGTDeletion - In frame
GSPT1ENSG00000103342ENST00000434724p.K359Kc.1077G>ASubstitution - coding silent
PTCH1ENSG00000185920ENST00000331920p.?c.1348-4G>TUnknown
ENST00000344237p.R564Hc.1691G>ASubstitution - Missense
KIAA1549ENSG00000122778ENST00000422774p.L366Lc.1098T>GSubstitution - coding silent
ADCY7ENSG00000121281ENST00000394697p.?c.687+7C>TUnknown
ITGAXENSG00000140678ENST00000268296p.G364Gc.1092C>GSubstitution - coding silent
SMC6ENSG00000163029ENST00000448223p.L1048Lc.3144C>TSubstitution - coding silent
WASH4PENSG00000234769ENST00000326592p.T161Ic.482C>TSubstitution - Missense
CTNNA2ENSG00000066032ENST00000466387p.T504Tc.1512C>TSubstitution - coding silent
ENST00000358511_v70p.R906Cc.2716C>TSubstitution - Missense
IL2RBENSG00000100385ENST00000216223p.P405Sc.1213C>TSubstitution - Missense
ENST00000421549p.S389Ic.1166G>TSubstitution - Missense
PPP1R18ENSG00000146112ENST00000399199p.G384Rc.1150G>ASubstitution - Missense
ENST00000502505_v70p.G113Gc.339G>TSubstitution - coding silent
HSPA5ENSG00000044574ENST00000324460p.E600Gc.1799A>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T10031Tc.30093C>TSubstitution - coding silent
TENM1ENSG00000009694ENST00000371130p.T2245Sc.6734C>GSubstitution - Missense
MYL4ENSG00000198336ENST00000393450p.F113Lc.339T>GSubstitution - Missense
HABP4ENSG00000130956ENST00000375249p.?c.827+10T>CUnknown
MOB1BENSG00000173542ENST00000309395p.S213Tc.637T>ASubstitution - Missense
CENPOENSG00000138092ENST00000380834p.P232Pc.696G>ASubstitution - coding silent
TIAM2ENSG00000146426ENST00000318981p.N1074Nc.3222C>TSubstitution - coding silent
MLF1ENSG00000178053ENST00000392822p.S138fs*4c.411_414delTTCTDeletion - Frameshift
BNC2ENSG00000173068ENST00000380672p.S1020Lc.3059C>TSubstitution - Missense
NLRP1ENSG00000091592ENST00000572272p.A668Sc.2002G>TSubstitution - Missense
ADD1ENSG00000087274ENST00000264758p.V654Lc.1960G>CSubstitution - Missense
MYO19ENSG00000141140ENST00000431794p.V349Gc.1046T>GSubstitution - Missense
SCN2AENSG00000136531ENST00000375437p.R524Qc.1571G>ASubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.I801Ic.2403T>CSubstitution - coding silent
IL1RAPL1ENSG00000169306ENST00000378993p.?c.362+1G>TUnknown
CUL7ENSG00000044090ENST00000265348p.R1564Wc.4690C>TSubstitution - Missense
PIAS3ENSG00000131788ENST00000393045p.A587Vc.1760C>TSubstitution - Missense
GSTZ1ENSG00000100577ENST00000216465p.F176fs*40c.524_524+1insAGUnknown
SLC25A13ENSG00000004864ENST00000265631p.M285fs*2c.852_855delTATGDeletion - Frameshift
KIAA0319ENSG00000137261ENST00000378214p.S396Cc.1187C>GSubstitution - Missense
KRTAP9-4ENSG00000241595ENST00000334109p.K25Rc.74A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A3086Tc.9256G>ASubstitution - Missense
LILRA3ENSG00000170866ENST00000251390p.D413Ec.1239C>GSubstitution - Missense
CAPN15ENSG00000103326ENST00000219611p.G1042Sc.3124G>ASubstitution - Missense
PLXND1ENSG00000004399ENST00000324093p.G1752Gc.5256A>CSubstitution - coding silent
XM_051221.5p.D822Nc.2464G>ASubstitution - Missense
ENST00000427965p.V391Vc.1173G>TSubstitution - coding silent
CCDC88AENSG00000115355ENST00000336838p.E282Kc.844G>ASubstitution - Missense
PPP2R2BENSG00000156475ENST00000394413p.V61Fc.181G>TSubstitution - Missense
PARLENSG00000175193ENST00000317096p.L219Vc.655T>GSubstitution - Missense
HLA-DRB1ENSG00000196126ENST00000360004p.V209Lc.625G>CSubstitution - Missense
TCF3ENSG00000071564ENST00000344749p.P647Tc.1939C>ASubstitution - Missense
PDE1AENSG00000115252ENST00000409365p.R269Hc.806G>ASubstitution - Missense
MYOFENSG00000138119ENST00000359263p.T1554Tc.4662G>ASubstitution - coding silent
KIF6ENSG00000164627ENST00000287152p.S781Lc.2342C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.G245Sc.733G>ASubstitution - Missense
PRAMEF1ENSG00000116721ENST00000332296p.V108Fc.322G>TSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.P776_K777insQVEVRGPc.2328_2329ins21Insertion - In frame
PIAS3ENSG00000131788ENST00000393045p.A587Vc.1760C>TSubstitution - Missense
SLC6A5ENSG00000165970ENST00000525748p.I406Mc.1218T>GSubstitution - Missense
SLC12A1ENSG00000074803ENST00000396577p.K81Ec.241A>GSubstitution - Missense
KIAA0907ENSG00000132680ENST00000368321p.E147Ec.441G>ASubstitution - coding silent
ATP11AENSG00000068650ENST00000375645p.T672Ac.2014A>GSubstitution - Missense
GH1ENSG00000259384ENST00000323322p.G157Dc.470G>ASubstitution - Missense
ZNF726ENSG00000213967ENST00000322487p.G703Ec.2108G>ASubstitution - Missense
KRTAP9-4ENSG00000241595ENST00000334109p.W24Cc.72G>CSubstitution - Missense
DOPEY2ENSG00000142197ENST00000399151p.E1019delEc.3053_3055delAGGDeletion - In frame
RBM48ENSG00000127993ENST00000265732p.L203Fc.609A>TSubstitution - Missense
ENST00000265148.1p.I1868Mc.5604A>GSubstitution - Missense
NM_206943.1p.R1269Hc.3806G>ASubstitution - Missense
BTNL3ENSG00000168903ENST00000342868p.G365Gc.1095G>ASubstitution - coding silent
ACKR2ENSG00000144648ENST00000442925p.R77Rc.231C>GSubstitution - coding silent
PPP2R2BENSG00000156475ENST00000508545p.V50Fc.148G>TSubstitution - Missense
RXFP1ENSG00000171509ENST00000307765p.D570Yc.1708G>TSubstitution - Missense
CYP21A2ENSG00000231852ENST00000418967p.E247fs*11c.740delADeletion - Frameshift
CCDC148ENSG00000153237ENST00000283233p.L248Vc.742C>GSubstitution - Missense
IGSF3ENSG00000143061ENST00000369486p.E786*c.2356G>TSubstitution - Nonsense
HNRNPKENSG00000165119ENST00000376264p.N12Yc.34A>TSubstitution - Missense
TIAM2ENSG00000146426ENST00000456144p.N1074Nc.3222C>TSubstitution - coding silent
SGSHENSG00000181523ENST00000326317p.T360Tc.1080C>TSubstitution - coding silent
SLCO1B3ENSG00000111700ENST00000381545p.M666Vc.1996A>GSubstitution - Missense
TAC3ENSG00000166863ENST00000300108p.S14Sc.42C>TSubstitution - coding silent
DGKZENSG00000149091ENST00000343674p.A353Ac.1059G>ASubstitution - coding silent
KRTAP5-2ENSG00000205867ENST00000412090p.G87Sc.259G>ASubstitution - Missense
ERAP1ENSG00000164307ENST00000296754p.I250Vc.748A>GSubstitution - Missense
GRB10ENSG00000106070ENST00000403097p.P89Sc.265C>TSubstitution - Missense
PRPS1L1ENSG00000229937ENST00000506618p.K280Ec.838A>GSubstitution - Missense
PIK3CDENSG00000171608ENST00000536656p.R402Cc.1204C>TSubstitution - Missense
LHX6ENSG00000106852ENST00000340587p.?c.879+4G>AUnknown
PLXND1ENSG00000004399ENST00000393239p.G1752Gc.5256A>CSubstitution - coding silent
ZNF737ENSG00000237440ENST00000427401p.T273fs*4c.818_900del83Deletion - Frameshift
GPR35ENSG00000178623ENST00000319838p.N246Nc.738C>TSubstitution - coding silent
BAZ2AENSG00000076108ENST00000379441p.V561Mc.1681G>ASubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.P1252Pc.3756T>CSubstitution - coding silent
SU_OBSCN.1p.T5836Ic.17507C>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.L3278Pc.9833T>CSubstitution - Missense
MTUS2ENSG00000132938ENST00000431530p.?c.2476+6C>TUnknown
DAGLAENSG00000134780ENST00000257215p.G658Gc.1974G>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.L1317Lc.3951G>TSubstitution - coding silent
SPTBENSG00000070182ENST00000389722p.D684Nc.2050G>ASubstitution - Missense
PDE1AENSG00000115252ENST00000410103p.R285Hc.854G>ASubstitution - Missense
C1orf141ENSG00000203963ENST00000371007p.L232Sc.695T>CSubstitution - Missense
ACP5ENSG00000102575ENST00000218758p.M3Tc.8T>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T1924Sc.5771C>GSubstitution - Missense
LTBP1ENSG00000049323ENST00000407925p.R942Hc.2825G>ASubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.T1855Sc.5564C>GSubstitution - Missense
POM121ENSG00000196313ENST00000395270p.G237Wc.709G>TSubstitution - Missense
ASB18ENSG00000182177ENST00000409749p.A26Ac.78C>TSubstitution - coding silent
IL15ENSG00000164136ENST00000320650p.?c.241-5T>AUnknown
ATAD2ENSG00000156802ENST00000287394p.D1189Gc.3566A>GSubstitution - Missense
SLC30A8ENSG00000164756ENST00000456015p.I349Fc.1045A>TSubstitution - Missense
PSMA2ENSG00000106588ENST00000223321p.R91*c.271C>TSubstitution - Nonsense
ABCB8ENSG00000197150ENST00000358849p.R50Wc.148C>TSubstitution - Missense
PRPS1L1ENSG00000229937ENST00000506618p.K280Ec.838A>GSubstitution - Missense
MYOFENSG00000138119ENST00000371501p.T1554Tc.4662G>ASubstitution - coding silent
MROH8ENSG00000101353ENST00000400440p.K192Qc.574A>CSubstitution - Missense
CTCFLENSG00000124092ENST00000423479p.R524Qc.1571G>ASubstitution - Missense
OSBPL6ENSG00000079156ENST00000315022p.E674Ec.2022A>GSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
EYSENSG00000188107ENST00000370621p.V112Lc.334G>CSubstitution - Missense
ERO1LBENSG00000086619ENST00000354619p.?c.505+1G>AUnknown
ENST00000432996p.K121Ec.361A>GSubstitution - Missense
WDR96ENSG00000197748ENST00000357060p.T1259Ac.3775A>GSubstitution - Missense
GFERENSG00000127554ENST00000248114p.R179Cc.535C>TSubstitution - Missense
TTF2ENSG00000116830ENST00000369466p.L137Lc.411C>GSubstitution - coding silent
YBX1ENSG00000065978ENST00000321358p.P250Lc.749C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.L1361Lc.4083G>TSubstitution - coding silent
PTPN6ENSG00000111679ENST00000456013p.L560Sc.1679T>CSubstitution - Missense
UEVLDENSG00000151116ENST00000543987p.G100*c.298G>TSubstitution - Nonsense
SPACA7ENSG00000153498ENST00000283550p.V111Vc.333C>ASubstitution - coding silent
PTCH1ENSG00000185920ENST00000375274p.?c.1345-4G>TUnknown
FRMD4AENSG00000151474ENST00000264546p.P537Sc.1609C>TSubstitution - Missense
EHD3ENSG00000013016ENST00000322054p.H424Rc.1271A>GSubstitution - Missense
CLNKENSG00000109684ENST00000226951p.Y288Hc.862T>CSubstitution - Missense
TRIM42ENSG00000155890ENST00000286349p.R303Cc.907C>TSubstitution - Missense
MARCKSENSG00000155130ENST00000368635p.A284Pc.850G>CSubstitution - Missense
ENST00000502505_v68p.G113Gc.339G>TSubstitution - coding silent
PTPRFENSG00000142949ENST00000422171p.L865Vc.2593C>GSubstitution - Missense
VEGFAENSG00000112715ENST00000482630p.P163Rc.488C>GSubstitution - Missense
CUX2ENSG00000111249ENST00000261726p.E1226Kc.3676G>ASubstitution - Missense
NM_203304.1p.T168Pc.502A>CSubstitution - Missense
RDH16ENSG00000139547ENST00000398138p.S312Nc.935G>ASubstitution - Missense
CNTN5ENSG00000149972ENST00000528682p.K425Nc.1275G>TSubstitution - Missense
CACUL1ENSG00000151893ENST00000369151p.I212Tc.635T>CSubstitution - Missense
BIRC2ENSG00000110330ENST00000227758p.K546Kc.1638G>ASubstitution - coding silent
CWF19L2ENSG00000152404ENST00000282251p.E176Ac.527A>CSubstitution - Missense
ANKRD35ENSG00000198483ENST00000355594p.R244Wc.730C>TSubstitution - Missense
ENST00000398121p.Q391delQc.1166_1168delAGCDeletion - In frame
NT5DC2ENSG00000168268ENST00000422318p.L382Lc.1146G>ASubstitution - coding silent
NFXL1ENSG00000170448ENST00000329043p.?c.1089+9A>TUnknown
RPL6ENSG00000089009ENST00000424576p.T278Mc.833C>TSubstitution - Missense
MYO10ENSG00000145555ENST00000513610p.A975Ac.2925A>GSubstitution - coding silent
PPP2R2BENSG00000156475ENST00000504198p.V67Fc.199G>TSubstitution - Missense
TIAM2ENSG00000146426ENST00000367174p.N450Nc.1350C>TSubstitution - coding silent
ABCB8ENSG00000197150ENST00000542328p.?c.1752+8G>TUnknown
ABCB8ENSG00000197150ENST00000356058p.R87Wc.259C>TSubstitution - Missense
PPP1R3AENSG00000154415ENST00000284601p.T729Tc.2187A>TSubstitution - coding silent
POM121ENSG00000196313ENST00000434423p.G502Wc.1504G>TSubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.T2252Sc.6755C>GSubstitution - Missense
EYSENSG00000188107ENST00000342421p.V112Lc.334G>CSubstitution - Missense
MCATENSG00000100294ENST00000290429p.A303Tc.907G>ASubstitution - Missense
HLXENSG00000136630ENST00000366903p.G483Gc.1449C>ASubstitution - coding silent
HSPG2ENSG00000142798ENST00000374695p.L3621Lc.10863G>ASubstitution - coding silent
PHLDA1ENSG00000139289ENST00000266671p.R105Gc.313C>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.L1361Lc.4083G>TSubstitution - coding silent
PIK3CDENSG00000171608ENST00000377346p.R437Cc.1309C>TSubstitution - Missense
MAP2K5ENSG00000137764ENST00000395476p.E331Ec.993G>ASubstitution - coding silent
ENST00000344237p.R739Wc.2215C>TSubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.A1155Vc.3464C>TSubstitution - Missense
SEMA6AENSG00000092421ENST00000343348p.G481Gc.1443A>GSubstitution - coding silent
SRCAPENSG00000080603ENST00000262518p.P1669Lc.5006C>TSubstitution - Missense
ARHGEF28ENSG00000214944ENST00000545377p.A18Ac.54G>ASubstitution - coding silent
MAMDC4ENSG00000177943ENST00000445819p.E944fs*127c.2826_2827insTTInsertion - Frameshift
KIF27ENSG00000165115ENST00000297814p.E1059Qc.3175G>CSubstitution - Missense
PCYOX1LENSG00000145882ENST00000274569p.A233Ac.699C>TSubstitution - coding silent
USP31ENSG00000103404ENST00000219689p.E751Gc.2252A>GSubstitution - Missense
ENST00000466655p.M65Ic.195G>ASubstitution - Missense
DNAH6ENSG00000115423ENST00000398278p.A1155Vc.3464C>TSubstitution - Missense
DGKZENSG00000149091ENST00000421244p.A337Ac.1011G>ASubstitution - coding silent
BAZ2AENSG00000076108ENST00000551812p.V525Mc.1573G>ASubstitution - Missense
CNTN5ENSG00000149972ENST00000524871p.K425Nc.1275G>TSubstitution - Missense
TESCENSG00000088992ENST00000392545p.D152Dc.456C>TSubstitution - coding silent
TMED2ENSG00000086598ENST00000262225p.L11Lc.31C>TSubstitution - coding silent
AP4S1ENSG00000100478ENST00000542754p.D108Gc.323A>GSubstitution - Missense
NM_024863.3p.C112Yc.335G>ASubstitution - Missense
PTCH1ENSG00000185920ENST00000331920p.?c.1348-4G>TUnknown
AFG3L2ENSG00000141385ENST00000269143p.?c.752+10A>GUnknown
NOD1ENSG00000106100ENST00000222823p.F697Fc.2091C>TSubstitution - coding silent
CDH12ENSG00000154162ENST00000382254p.V63fs*43c.186_187insTInsertion - Frameshift
MYO19ENSG00000141140ENST00000431794p.D377Dc.1131C>TSubstitution - coding silent
NF1ENSG00000196712ENST00000358273p.V2511fs*12c.7531delGDeletion - Frameshift
PCSK4ENSG00000115257ENST00000300954p.G288Gc.864C>TSubstitution - coding silent
KSR2ENSG00000171435ENST00000339824p.V220Vc.660G>TSubstitution - coding silent
LHX6ENSG00000106852ENST00000394319p.?c.879+4G>AUnknown
FAM73BENSG00000148343ENST00000358369p.A139Vc.416C>TSubstitution - Missense
CENPOENSG00000138092ENST00000473706p.P226Pc.678G>ASubstitution - coding silent
ITSN1ENSG00000205726ENST00000381285p.S1137Nc.3410G>ASubstitution - Missense
NF1ENSG00000196712ENST00000444181p.V304fs*12c.910delGDeletion - Frameshift
ENST00000545858p.G152Sc.454G>ASubstitution - Missense
MSLNLENSG00000162006ENST00000293892p.R90Hc.269G>ASubstitution - Missense
MAN2B2ENSG00000013288ENST00000285599p.G234Gc.702C>TSubstitution - coding silent
IGSF3ENSG00000143061ENST00000369486p.V469Mc.1405G>ASubstitution - Missense
PDE1AENSG00000115252ENST00000435564p.R285Hc.854G>ASubstitution - Missense
TLR8ENSG00000101916ENST00000218032p.L844Lc.2530T>CSubstitution - coding silent
ITSN1ENSG00000205726ENST00000381318p.S1137Nc.3410G>ASubstitution - Missense
ENST00000312412_v68p.T166Tc.498C>TSubstitution - coding silent
PER1ENSG00000179094ENST00000317276p.D372Nc.1114G>ASubstitution - Missense
KIR2DL4ENSG00000189013ENST00000396284p.G65Vc.194G>TSubstitution - Missense
ATP8B1ENSG00000081923ENST00000283684p.A976Ac.2928G>ASubstitution - coding silent
KPNA7ENSG00000185467ENST00000327442p.H469Yc.1405C>TSubstitution - Missense
CENPEENSG00000138778ENST00000265148p.I1868Mc.5604A>GSubstitution - Missense
AP1B1ENSG00000100280ENST00000357586p.Q59*c.175C>TSubstitution - Nonsense
BECN1ENSG00000126581ENST00000361523p.?c.980+3A>GUnknown
ANKFY1ENSG00000185722ENST00000574367p.?c.1372+10G>AUnknown
WNK4ENSG00000126562ENST00000246914p.Y352Sc.1055A>CSubstitution - Missense
KRT17ENSG00000128422ENST00000311208p.R122Rc.366G>ASubstitution - coding silent
NLRP1ENSG00000091592ENST00000262467p.A668Sc.2002G>TSubstitution - Missense
NLRP1ENSG00000091592ENST00000572272p.A668Sc.2002G>TSubstitution - Missense
PRODH2ENSG00000250799ENST00000301175p.R506Wc.1516C>TSubstitution - Missense
ADAMTS13ENSG00000160323ENST00000371911p.G307Gc.921G>ASubstitution - coding silent
HNRNPKENSG00000165119ENST00000376281p.N12Yc.34A>TSubstitution - Missense
ENSG00000183760ENST00000331256p.N146Kc.438C>ASubstitution - Missense
SYKENSG00000165025ENST00000375754p.A86Tc.256G>ASubstitution - Missense
SYKENSG00000165025ENST00000375751p.A86Tc.256G>ASubstitution - Missense
XM_291344.4p.G623Dc.1868G>ASubstitution - Missense
ENST00000319589p.G113Gc.339G>TSubstitution - coding silent
ENSG00000249034ENST00000502505p.G113Gc.339G>TSubstitution - coding silent
MYO10ENSG00000145555ENST00000274203p.A975Ac.2925A>GSubstitution - coding silent
MOGENSG00000204655ENST00000376917p.G106Vc.317G>TSubstitution - Missense
MOGENSG00000204655ENST00000494692p.G106Vc.317G>TSubstitution - Missense
HIST1H2AHENSG00000184825ENST00000377459p.N95fs*>34c.285delCDeletion - Frameshift
BPHLENSG00000137274ENST00000380375p.H13fs*10c.35delCDeletion - Frameshift
CDHR3ENSG00000128536ENST00000317716p.V673Mc.2017G>ASubstitution - Missense
CDHR3ENSG00000128536ENST00000317716p.V673Mc.2017G>ASubstitution - Missense
CDHR3ENSG00000128536ENST00000542731p.V673Mc.2017G>ASubstitution - Missense
ENST00000319379p.I746Ic.2238T>CSubstitution - coding silent
IGSF6ENSG00000140749ENST00000268389p.E61Kc.181G>ASubstitution - Missense
MVB12AENSG00000141971ENST00000317040p.G168Gc.504C>ASubstitution - coding silent
TP53TG5ENSG00000124251ENST00000372726p.P149Sc.445C>TSubstitution - Missense
PABPC1LENSG00000101104ENST00000217073p.E242Ec.726G>ASubstitution - coding silent
DDX1ENSG00000079785ENST00000381341p.T724Tc.2172A>GSubstitution - coding silent
ELFN1ENSG00000225968ENST00000424383p.E791Vc.2372A>TSubstitution - Missense
TBR1ENSG00000136535ENST00000389554p.S27*c.80C>ASubstitution - Nonsense
KIAA1671ENSG00000197077ENST00000358431p.P194Pc.582C>TSubstitution - coding silent
CCDC173ENSG00000154479ENST00000447353p.V9Ic.25G>ASubstitution - Missense
CCDC173ENSG00000154479ENST00000447353p.V9Ic.25G>ASubstitution - Missense
FASTKD1ENSG00000138399ENST00000453153p.M351Ic.1053G>ASubstitution - Missense
NUP214ENSG00000126883ENST00000359428p.S760Sc.2280G>ASubstitution - coding silent
FSTL5ENSG00000168843ENST00000306100p.F731fs*48c.2193delTDeletion - Frameshift
TLX3ENSG00000164438ENST00000296921p.P35Pc.105G>ASubstitution - coding silent
HSPA1LENSG00000204390ENST00000375654p.T147Tc.441C>TSubstitution - coding silent
DHX29ENSG00000067248ENST00000251636p.K779Kc.2337A>GSubstitution - coding silent
PSMB8ENSG00000204264ENST00000374882p.R229Hc.686G>ASubstitution - Missense
HLA-DQB1ENSG00000179344ENST00000399084p.T53Tc.159G>CSubstitution - coding silent
PKHD1ENSG00000170927ENST00000371117p.L3525Sc.10574T>CSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.R248Qc.743G>ASubstitution - Missense
TP53ENSG00000141510ENST00000420246p.G245Sc.733G>ASubstitution - Missense
IGSF3ENSG00000143061ENST00000369483p.E806*c.2416G>TSubstitution - Nonsense
NUP214ENSG00000126883ENST00000451030p.S761Sc.2283G>ASubstitution - coding silent
ENST00000356567p.V164Ic.490G>ASubstitution - Missense
MYOFENSG00000138119ENST00000371502p.T1573Tc.4719G>ASubstitution - coding silent
OR52N4ENSG00000181074ENST00000317254p.V142Lc.424G>CSubstitution - Missense
ENST00000341231p.R63Cc.187C>TSubstitution - Missense
ENST00000266505_v70p.R583Rc.1749T>CSubstitution - coding silent
RIMBP2ENSG00000060709ENST00000536002p.N241Nc.723C>TSubstitution - coding silent
AQP10ENSG00000143595ENST00000484864p.?c.489+10A>CUnknown
EFHD2ENSG00000142634ENST00000445566p.V76Lc.226G>CSubstitution - Missense
HSPG2ENSG00000142798ENST00000426143p.L173Lc.519G>ASubstitution - coding silent
MROH7ENSG00000184313ENST00000339553p.V509Gc.1526T>GSubstitution - Missense
TMEM39BENSG00000121775ENST00000427288p.?c.7-7C>TUnknown
C16orf45ENSG00000166780ENST00000452191p.A181Sc.541G>TSubstitution - Missense
MEX3DENSG00000181588ENST00000388824p.T346Pc.1036A>CSubstitution - Missense
ERGENSG00000157554ENST00000288319p.P153Pc.459A>GSubstitution - coding silent
KCNQ2ENSG00000075043ENST00000359689p.L109Lc.327G>TSubstitution - coding silent
AP1B1ENSG00000100280ENST00000415447p.Q59*c.175C>TSubstitution - Nonsense
CTNNA2ENSG00000066032ENST00000361291p.T538Tc.1614C>TSubstitution - coding silent
FGFRL1ENSG00000127418ENST00000398484p.D181Nc.541G>ASubstitution - Missense
ZIK1ENSG00000171649ENST00000307468p.Q368fs*>119c.1099_1102delAATCDeletion - Frameshift
KIF19ENSG00000196169ENST00000389916p.?c.2221-5C>GUnknown
XYLBENSG00000093217ENST00000207870p.T504Tc.1512C>TSubstitution - coding silent
SLC22A14ENSG00000144671ENST00000273173p.Y291Yc.873C>TSubstitution - coding silent
VILLENSG00000136059ENST00000283713p.P724Pc.2172G>ASubstitution - coding silent
ATOH1ENSG00000172238ENST00000306011p.S150Gc.448A>GSubstitution - Missense
APCENSG00000134982ENST00000457016p.S1931Sc.5793C>TSubstitution - coding silent
ANKRD53ENSG00000144031ENST00000360589p.G222Gc.666C>TSubstitution - coding silent
ANKRD53ENSG00000144031ENST00000272421p.G222Gc.666C>TSubstitution - coding silent
WASH4PENSG00000234769ENST00000538848p.T134Ic.401C>TSubstitution - Missense
WDR54ENSG00000005448ENST00000348227p.A301Ac.903C>TSubstitution - coding silent
BOD1L1ENSG00000038219ENST00000040738p.S376Lc.1127C>TSubstitution - Missense
ADGBENSG00000118492ENST00000397944p.G43Rc.127G>ASubstitution - Missense
ENST00000326929p.G43Rc.127G>ASubstitution - Missense
HIVEP2ENSG00000010818ENST00000012134p.E649Vc.1946A>TSubstitution - Missense
LATS1ENSG00000131023ENST00000543571p.T913Tc.2739T>GSubstitution - coding silent
ATXN1ENSG00000124788ENST00000244769p.A21Ac.63C>GSubstitution - coding silent
PNLDC1ENSG00000146453ENST00000275275p.?c.175+1G>AUnknown
ZNF804BENSG00000182348ENST00000333190p.L48Pc.143T>CSubstitution - Missense
INHBBENSG00000163083ENST00000295228p.S285Nc.854G>ASubstitution - Missense
SU_SPEGp.E1176Ec.3528G>ASubstitution - coding silent
SPHKAPENSG00000153820ENST00000392056p.G1057Cc.3169G>TSubstitution - Missense
SPHKAPENSG00000153820ENST00000392056p.D822Nc.2464G>ASubstitution - Missense
CCDC88AENSG00000115355ENST00000263630p.E282Kc.844G>ASubstitution - Missense
PKDREJENSG00000130943ENST00000253255p.H591Qc.1773C>ASubstitution - Missense
SAMM50ENSG00000100347ENST00000350028p.?c.560+8G>TUnknown
SCUBE1ENSG00000159307ENST00000360835p.P390Rc.1169C>GSubstitution - Missense
XM_371474.2p.Y784Yc.2352C>TSubstitution - coding silent
GCNT4ENSG00000176928ENST00000322348p.E47Dc.141G>TSubstitution - Missense
OCLNENSG00000197822ENST00000396442p.?c.891+5G>AUnknown
LRCH4ENSG00000077454ENST00000310300p.P290Pc.870G>CSubstitution - coding silent
NCR2ENSG00000096264ENST00000373089p.A192Ac.576C>TSubstitution - coding silent
NCR2ENSG00000096264ENST00000373086p.A204Ac.612C>TSubstitution - coding silent
GLP1RENSG00000112164ENST00000373256p.Y269Yc.807C>TSubstitution - coding silent
WBSCR27ENSG00000165171ENST00000297873p.?c.389-3_389-2delcaUnknown
POM121ENSG00000196313ENST00000257622p.G237Wc.709G>TSubstitution - Missense
RSPH10BENSG00000155026ENST00000337579p.D826Nc.2476G>ASubstitution - Missense
RELNENSG00000189056ENST00000343529p.A174Tc.520G>ASubstitution - Missense
TOR4AENSG00000198113ENST00000357503p.T105Ac.313A>GSubstitution - Missense
EXD3ENSG00000187609ENST00000340951p.E762Kc.2284G>ASubstitution - Missense
DPP7ENSG00000176978ENST00000371579p.I468Tc.1403T>CSubstitution - Missense
NM_138737.1p.K1077Kc.3231A>GSubstitution - coding silent
B3GNT3ENSG00000179913ENST00000318683p.P244Pc.732C>ASubstitution - coding silent
ENST00000344519_v61p.T272fs*4c.815_897del83Deletion - Frameshift
TMEM43ENSG00000170876ENST00000306077p.K99Rc.296A>GSubstitution - Missense
ADD1ENSG00000087274ENST00000264758p.L653Hc.1958T>ASubstitution - Missense
ADD1ENSG00000087274ENST00000264758p.L653Lc.1959T>CSubstitution - coding silent
SHROOM1ENSG00000164403ENST00000319854p.L276Lc.828G>ASubstitution - coding silent
TTC37ENSG00000198677ENST00000358746p.H792Qc.2376T>GSubstitution - Missense
RTTNENSG00000176225ENST00000255674p.R1378Rc.4134G>ASubstitution - coding silent
COL5A3ENSG00000080573ENST00000264828p.M444Ic.1332G>CSubstitution - Missense
EP300ENSG00000100393ENST00000263253p.?c.730-10T>CUnknown
MGAT3ENSG00000128268ENST00000341184p.L84Lc.252G>TSubstitution - coding silent
FAM227AENSG00000184949ENST00000355830p.M152Ic.456G>ASubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.W3580Gc.10738T>GSubstitution - Missense
DSPENSG00000096696ENST00000379802p.R572Qc.1715G>ASubstitution - Missense
GALNT12ENSG00000119514ENST00000375011p.G277Gc.831C>TSubstitution - coding silent
IRAK1BP1ENSG00000146243ENST00000369940p.Q47Ec.139C>GSubstitution - Missense
NF1ENSG00000196712ENST00000358273p.V2511fs*12c.7531delGDeletion - Frameshift
PRKD3ENSG00000115825ENST00000379066p.?c.1652-2A>GUnknown
PRKD3ENSG00000115825ENST00000379066p.?c.1652-2A>GUnknown
MYO19ENSG00000141140ENST00000431794p.D377Dc.1131C>TSubstitution - coding silent
MYO19ENSG00000141140ENST00000431794p.V349Gc.1046T>GSubstitution - Missense
ENSG00000181464ENST00000312127p.R162Sc.484C>ASubstitution - Missense
ANKRD27ENSG00000105186ENST00000306065p.A867Ac.2601G>ASubstitution - coding silent
ENST00000344073p.G95Rc.283G>ASubstitution - Missense
LENG8ENSG00000167615ENST00000326764p.P66Sc.196C>TSubstitution - Missense
VSTM2LENSG00000132821ENST00000373461p.G68Sc.202G>ASubstitution - Missense
ENST00000343811_v68p.K188Qc.562A>CSubstitution - Missense
MROH8ENSG00000101353ENST00000400441p.K161Tc.482A>CSubstitution - Missense
RBL1ENSG00000080839ENST00000373664p.Q348Ec.1042C>GSubstitution - Missense
DLGAP4ENSG00000080845ENST00000373913p.I450Mc.1350C>GSubstitution - Missense
GNASENSG00000087460ENST00000371085p.C3Cc.9C>TSubstitution - coding silent
CTCFLENSG00000124092ENST00000243914p.R524Qc.1571G>ASubstitution - Missense
TSHZ2ENSG00000182463ENST00000371497p.G44Ac.131G>CSubstitution - Missense
VWDEENSG00000146530ENST00000275358p.S302fs*21c.901_902insTInsertion - Frameshift
LRRC19ENSG00000184434ENST00000380055p.C180Cc.540C>TSubstitution - coding silent
FAM221BENSG00000204930ENST00000423537p.H336Hc.1008C>TSubstitution - coding silent
ENST00000423537_v68p.H336Hc.1008C>TSubstitution - coding silent
FAM189A2ENSG00000135063ENST00000257515p.E369delEc.1102_1104delGAGDeletion - In frame
RANBP6ENSG00000137040ENST00000259569p.D584Hc.1750G>CSubstitution - Missense
TMEM2ENSG00000135048ENST00000377044p.E766Kc.2296G>ASubstitution - Missense
BIN3ENSG00000147439ENST00000276416p.R233Gc.697C>GSubstitution - Missense
SORBS3ENSG00000120896ENST00000240123p.Q392*c.1174C>TSubstitution - Nonsense
FRMD4BENSG00000114541ENST00000398540p.P591Sc.1771C>TSubstitution - Missense
CD79BENSG00000007312ENST00000006750p.A105Tc.313G>ASubstitution - Missense
RAC3ENSG00000169750ENST00000306897p.P99Pc.297G>ASubstitution - coding silent
ZNF440ENSG00000171295ENST00000304060p.D89Ec.267T>ASubstitution - Missense
KRTAP10-6ENSG00000188155ENST00000400368p.C47Yc.140G>ASubstitution - Missense
FRG2CENSG00000172969ENST00000308062p.P8Tc.22C>ASubstitution - Missense
PPP4R2ENSG00000163605ENST00000356692p.D304_E307delDEEEc.891_902del12Deletion - In frame
ANKRD36CENSG00000174501ENST00000456556p.G845Vc.2534G>TSubstitution - Missense
ENST00000420871_v68p.R852Hc.2555G>ASubstitution - Missense
ANKRD36CENSG00000174501ENST00000420871p.R852Hc.2555G>ASubstitution - Missense
UTP3ENSG00000132467ENST00000254803p.L207Lc.621G>ASubstitution - coding silent
MT1FENSG00000198417ENST00000334350p.C24Fc.71G>TSubstitution - Missense
ATP2A3ENSG00000074370ENST00000352011p.R678Hc.2033G>ASubstitution - Missense
ENST00000290186p.T97Tc.291G>ASubstitution - coding silent
RGS12ENSG00000159788ENST00000344733p.S126Sc.378T>GSubstitution - coding silent
ERGENSG00000157554ENST00000417133p.P160Pc.480A>GSubstitution - coding silent
NFXL1ENSG00000170448ENST00000381538p.?c.1089+9A>TUnknown
TCP10ENSG00000203690ENST00000397829p.P269fs*7c.806delCDeletion - Frameshift
ENST00000242365_v65p.L316Lc.948T>GSubstitution - coding silent
C6orf195ENSG00000164385ENST00000296847p.P4Tc.10C>ASubstitution - Missense
ENST00000540262p.?c.875-5T>GUnknown
C7orf76ENSG00000197851ENST00000356686p.P51Pc.153G>ASubstitution - coding silent
ZNF696ENSG00000185730ENST00000330143p.R256Qc.767G>ASubstitution - Missense
NM_004260.1p.G1105Rc.3313G>CSubstitution - Missense
PLECENSG00000178209ENST00000345136p.T19Ac.55A>GSubstitution - Missense
ARHGEF10ENSG00000104728ENST00000349830p.E183Dc.549A>CSubstitution - Missense
ARHGEF10ENSG00000104728ENST00000398560p.E208Dc.624A>CSubstitution - Missense
EPG5ENSG00000152223ENST00000282041p.S1590Sc.4770C>TSubstitution - coding silent
KIR2DL4ENSG00000189013ENST00000359085p.G67Vc.200G>TSubstitution - Missense
MYLK2ENSG00000101306ENST00000375994p.P94Lc.281C>TSubstitution - Missense
MICAL3ENSG00000243156ENST00000441493p.D1528Gc.4583A>GSubstitution - Missense
ASXL2ENSG00000143970ENST00000435504p.T1363Tc.4089T>CSubstitution - coding silent
ASXL2ENSG00000143970ENST00000272341p.T846Tc.2538T>CSubstitution - coding silent
ITSN2ENSG00000198399ENST00000355123p.S1402*c.4205C>ASubstitution - Nonsense
ANO7ENSG00000146205ENST00000274979p.P754Pc.2262G>CSubstitution - coding silent
SLX4ENSG00000188827ENST00000294008p.A236Ac.708G>ASubstitution - coding silent
KCNQ2ENSG00000075043ENST00000354587p.L109Lc.327G>TSubstitution - coding silent
TCFL5ENSG00000101190ENST00000217162p.E5Dc.15G>CSubstitution - Missense
EHD3ENSG00000013016ENST00000322054p.G427Rc.1279G>CSubstitution - Missense
ENST00000405167p.G3900Dc.11699G>ASubstitution - Missense
ENST00000405167p.T1924Sc.5771C>GSubstitution - Missense
ENST00000405167p.T3083Tc.9249A>CSubstitution - coding silent
KAT2BENSG00000114166ENST00000263754p.V457Fc.1369G>TSubstitution - Missense
GOLGA6L2ENSG00000174450ENST00000312015p.K193Ec.577A>GSubstitution - Missense
UEVLDENSG00000151116ENST00000396197p.G100*c.298G>TSubstitution - Nonsense
SHCBP1LENSG00000157060ENST00000367547p.V512Ic.1534G>ASubstitution - Missense
ENST00000355015p.P74Pc.222G>ASubstitution - coding silent
ENST00000282251_v68p.E330Ac.989A>CSubstitution - Missense
BET1LENSG00000177951ENST00000325147p.H60Hc.180C>TSubstitution - coding silent
BCL9ENSG00000116128ENST00000234739p.A471Ac.1413G>ASubstitution - coding silent
EMC1ENSG00000127463ENST00000477853p.K52Rc.155A>GSubstitution - Missense
PRG4ENSG00000116690ENST00000445192p.T564Ic.1691C>TSubstitution - Missense
XM_372608.1p.R382Qc.1145G>ASubstitution - Missense
C16orf45ENSG00000166780ENST00000300006p.A198Sc.592G>TSubstitution - Missense
CUBNENSG00000107611ENST00000377833p.Q1784Rc.5351A>GSubstitution - Missense
ZNF410ENSG00000119725ENST00000555044p.D143Dc.429T>CSubstitution - coding silent
SLIRPENSG00000119705ENST00000557342p.A5Tc.13G>ASubstitution - Missense
GSTZ1ENSG00000100577ENST00000393734p.F121fs*40c.359_359+1insAGUnknown
ATG2AENSG00000110046ENST00000377264p.A112Pc.334G>CSubstitution - Missense
PTPRFENSG00000142949ENST00000359947p.L1506Vc.4516C>GSubstitution - Missense
FAM183AENSG00000186973ENST00000335282p.I10Ic.30T>CSubstitution - coding silent
ENST00000409706p.I10Ic.30T>CSubstitution - coding silent
HECTD3ENSG00000126107ENST00000372172p.D221Dc.663C>TSubstitution - coding silent
KLF17ENSG00000171872ENST00000372299p.Q20Rc.59A>GSubstitution - Missense
EHD4ENSG00000103966ENST00000220325p.G17Cc.49G>TSubstitution - Missense
CCDC17ENSG00000159588ENST00000343901p.V473fs*2c.1417delGDeletion - Frameshift
ENST00000343901_v65p.V473fs*2c.1417delGDeletion - Frameshift
SLC12A1ENSG00000074803ENST00000380993p.K81Ec.241A>GSubstitution - Missense
MROH7ENSG00000184313ENST00000421030p.V509Gc.1526T>GSubstitution - Missense
MROH7ENSG00000184313ENST00000421030p.V509Gc.1526T>GSubstitution - Missense
HSPB11ENSG00000081870ENST00000371378p.I105Tc.314T>CSubstitution - Missense
GLIS1ENSG00000174332ENST00000312233p.A35Vc.104C>TSubstitution - Missense
AKAP6ENSG00000151320ENST00000280979p.N139Sc.416A>GSubstitution - Missense
AQP10ENSG00000143595ENST00000324978p.?c.489+10A>CUnknown
IGFN1ENSG00000163395ENST00000335211p.R3570Sc.10710G>CSubstitution - Missense
IGFN1ENSG00000163395ENST00000335211p.R730Sc.2190G>CSubstitution - Missense
C11orf16ENSG00000176029ENST00000326053p.Q314*c.940C>TSubstitution - Nonsense
PRAMEF11ENSG00000204513ENST00000535591p.S344Sc.1032C>TSubstitution - coding silent
EP400ENSG00000183495ENST00000389561p.I1792Tc.5375T>CSubstitution - Missense
RIMBP2ENSG00000060709ENST00000261655p.N333Nc.999C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313431p.H35Hc.105C>TSubstitution - coding silent
ATAD3CENSG00000215915ENST00000378785p.I250Tc.749T>CSubstitution - Missense
HNRNPCL1ENSG00000179172ENST00000317869p.G72Ac.215G>CSubstitution - Missense
CNKSR1ENSG00000142675ENST00000361530p.?c.624+9T>CUnknown
OR2T3ENSG00000196539ENST00000359594p.F182Vc.544T>GSubstitution - Missense
JAK1ENSG00000162434ENST00000342505p.?c.3370-10C>TUnknown
BCL10ENSG00000142867ENST00000370580p.V103Vc.309G>CSubstitution - coding silent
SPTBENSG00000070182ENST00000542895p.D684Nc.2050G>ASubstitution - Missense
RAB11AENSG00000103769ENST00000435304p.?c.439+5C>TUnknown
ZNF609ENSG00000180357ENST00000326648p.Y1374Yc.4122C>TSubstitution - coding silent
MAP2K5ENSG00000137764ENST00000178640p.E331Ec.993G>ASubstitution - coding silent
ATP11AENSG00000068650ENST00000375630p.T672Ac.2014A>GSubstitution - Missense
TUBGCP3ENSG00000126216ENST00000261965p.V422Lc.1264G>CSubstitution - Missense
SLC1A3ENSG00000079215ENST00000265113p.R385Rc.1155C>TSubstitution - coding silent
IRX1ENSG00000170549ENST00000302006p.L225Lc.675G>ASubstitution - coding silent
UGT3A1ENSG00000145626ENST00000274278p.M217Tc.650T>CSubstitution - Missense
BCAR1ENSG00000050820ENST00000418647p.R589Wc.1765C>TSubstitution - Missense
BCAR1ENSG00000050820ENST00000162330p.R543Wc.1627C>TSubstitution - Missense
C20orf26ENSG00000089101ENST00000245957p.E1064Qc.3190G>CSubstitution - Missense
RRBP1ENSG00000125844ENST00000360807p.V228Vc.684G>ASubstitution - coding silent
PDE1AENSG00000115252ENST00000346717p.R251Hc.752G>ASubstitution - Missense
ITGA4ENSG00000115232ENST00000397033p.R406Hc.1217G>ASubstitution - Missense
CHRDL1ENSG00000101938ENST00000218054p.K4Kc.12G>ASubstitution - coding silent
PNPLA6ENSG00000032444ENST00000414982p.R136Rc.408G>ASubstitution - coding silent
PNPLA6ENSG00000032444ENST00000221249p.R88Rc.264G>ASubstitution - coding silent
PTCH1ENSG00000185920ENST00000375274p.?c.1345-4G>TUnknown
ENST00000331986p.T5664Tc.16992C>TSubstitution - coding silent
CBLENSG00000110395ENST00000264033p.C384Rc.1150T>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
PCNTENSG00000160299ENST00000359568p.G1781Rc.5341G>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.R248Qc.743G>ASubstitution - Missense
ATP6V0A4ENSG00000105929ENST00000393054p.H804Hc.2412C>TSubstitution - coding silent
KIF6ENSG00000164627ENST00000287152p.S781Lc.2342C>TSubstitution - Missense
GATA5ENSG00000130700ENST00000252997p.R201Hc.602G>ASubstitution - Missense
IL1RAPL1ENSG00000169306ENST00000378993p.?c.362+1G>TUnknown
FAM47CENSG00000198173ENST00000358047p.R319Cc.955C>TSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.R319Cc.955C>TSubstitution - Missense
ZNF559ENSG00000188321ENST00000393883p.R111Ic.332G>TSubstitution - Missense
SLFN12LENSG00000205045ENST00000449046p.A577Tc.1729G>ASubstitution - Missense
ENST00000449046_v65p.A577Tc.1729G>ASubstitution - Missense
DSTENSG00000151914ENST00000244364p.D3173Nc.9517G>ASubstitution - Missense
ATP2A3ENSG00000074370ENST00000359983p.R678Hc.2033G>ASubstitution - Missense
PIWIL3ENSG00000184571ENST00000332271p.A9Tc.25G>ASubstitution - Missense
CCDC106ENSG00000173581ENST00000308964p.A142Ac.426G>ASubstitution - coding silent
EPG5ENSG00000152223ENST00000282041p.R642Qc.1925G>ASubstitution - Missense
LRFN2ENSG00000156564ENST00000338305p.R170*c.508C>TSubstitution - Nonsense
TP53ENSG00000141510ENST00000455263p.G245Sc.733G>ASubstitution - Missense
SLFN12LENSG00000205045ENST00000361112p.A575Tc.1723G>ASubstitution - Missense
OR6C70ENSG00000184954ENST00000327335p.A298Sc.892G>TSubstitution - Missense
PMLENSG00000140464ENST00000268058p.Q641*c.1921C>TSubstitution - Nonsense
BAZ2AENSG00000076108ENST00000551812p.V525Mc.1573G>ASubstitution - Missense
SCAPERENSG00000140386ENST00000324767p.?c.4099+6T>AUnknown
ASCL4ENSG00000187855ENST00000342331p.Y15Hc.43T>CSubstitution - Missense
RPL6ENSG00000089009ENST00000202773p.T278Mc.833C>TSubstitution - Missense
CUX2ENSG00000111249ENST00000261726p.G1242Gc.3726G>ASubstitution - coding silent
TAS2R19ENSG00000212124ENST00000390673p.T221Pc.661A>CSubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.T1485Kc.4454C>ASubstitution - Missense
DNAH14ENSG00000185842ENST00000445597p.T1101Kc.3302C>ASubstitution - Missense
RRP12ENSG00000052749ENST00000370992p.P1210Sc.3628C>TSubstitution - Missense
SLC37A2ENSG00000134955ENST00000403796p.V471Ic.1411G>ASubstitution - Missense
DGKZENSG00000149091ENST00000395574p.A303Ac.909G>ASubstitution - coding silent
ARHGEF11ENSG00000132694ENST00000368194p.E569Ec.1707G>ASubstitution - coding silent
TMEM5ENSG00000118600ENST00000261234p.R5Rc.15G>ASubstitution - coding silent
VWFENSG00000110799ENST00000261405p.D1529Hc.4585G>CSubstitution - Missense
NTSENSG00000133636ENST00000256010p.*171*c.512G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.A8088Tc.24262G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.T5254Ic.15761C>TSubstitution - Missense
KCNK1ENSG00000135750ENST00000366621p.L64Lc.192G>ASubstitution - coding silent
CHRNA5ENSG00000169684ENST00000299565p.R414Cc.1240C>TSubstitution - Missense
KLHL25ENSG00000183655ENST00000337975p.E183Kc.547G>ASubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.?c.2501-216_3281-218del6494Unknown
ENST00000368915p.?c.2501-216_3281-218del6494Unknown
KIF26AENSG00000066735ENST00000423312p.R1761Wc.5281C>TSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.I2667Ic.8001C>TSubstitution - coding silent
WDR74ENSG00000133316ENST00000529106p.L125Lc.373C>TSubstitution - coding silent
WDR74ENSG00000133316ENST00000525239p.L125Lc.373C>TSubstitution - coding silent
OR2AG1ENSG00000170803ENST00000307401p.R299Wc.895C>TSubstitution - Missense
IFNLR1ENSG00000185436ENST00000327535p.T31Tc.93G>ASubstitution - coding silent
DNMBPENSG00000107554ENST00000342239p.V1092Gc.3275T>GSubstitution - Missense
CLEC2AENSG00000188393ENST00000455827p.D112Ec.336T>ASubstitution - Missense
SYCP3ENSG00000139351ENST00000392924p.?c.454-10A>CUnknown
ARID2ENSG00000189079ENST00000334344p.F60Fc.180C>TSubstitution - coding silent
ARID2ENSG00000189079ENST00000334344p.V677Mc.2029G>ASubstitution - Missense
TNNENSG00000120332ENST00000239462p.V598Vc.1794G>ASubstitution - coding silent
PRRC2CENSG00000117523ENST00000392078p.D1405Gc.4214A>GSubstitution - Missense
SLC19A2ENSG00000117479ENST00000236137p.P265Sc.793C>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.H3403Dc.10207C>GSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.H3547Dc.10639C>GSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.L3422Pc.10265T>CSubstitution - Missense
ENST00000563027_v68p.S553Fc.1658C>TSubstitution - Missense
GOLGA6L2ENSG00000174450ENST00000567107p.K193Ec.577A>GSubstitution - Missense


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