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NCI-H1581 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

598 mutations reported
180 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
TTNENSG00000155657ENST00000359218p.W9379Cc.28137G>TSubstitution - Missense
ZNF671ENSG00000083814ENST00000317398p.Y479Hc.1435T>CSubstitution - Missense
REG1AENSG00000115386ENST00000233735p.R44Lc.131G>TSubstitution - Missense
ZP3ENSG00000188372ENST00000336517p.D56Dc.168C>TSubstitution - coding silent
HSP90AB1ENSG00000096384ENST00000371646p.N436Nc.1308T>CSubstitution - coding silent
ENSG00000204957ENST00000378108p.A55_F60>KAIc.163_178>AAAGCGAComplex - deletion inframe
LRP2ENSG00000081479ENST00000263816p.V4149Vc.12447G>ASubstitution - coding silent
ENST00000368148p.G1402Wc.4204G>TSubstitution - Missense
MED13LENSG00000123066ENST00000281928p.L191Fc.573G>CSubstitution - Missense
SCAF1ENSG00000126461ENST00000360565p.P1167Sc.3499C>TSubstitution - Missense
CALD1ENSG00000122786ENST00000361675p.I686Tc.2057T>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.R19720Lc.59159G>TSubstitution - Missense
C2orf16ENSG00000221843ENST00000408964p.S1446Fc.4337C>TSubstitution - Missense
HK2ENSG00000159399ENST00000290573p.I578Ic.1734T>CSubstitution - coding silent
IGSF10ENSG00000152580ENST00000282466p.T1273Tc.3819T>CSubstitution - coding silent
TRIM41ENSG00000146063ENST00000315073p.D223Yc.667G>TSubstitution - Missense
TBX22ENSG00000122145ENST00000373296p.?c.864-3T>CUnknown
AGGF1ENSG00000164252ENST00000312916p.G248Sc.742G>ASubstitution - Missense
COL9A1ENSG00000112280ENST00000320755p.G104Vc.311G>TSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.?c.4886-10T>AUnknown
ITGB3ENSG00000259207ENST00000559488p.I370Tc.1109T>CSubstitution - Missense
ERLIN2ENSG00000147475ENST00000523887p.E90Kc.268G>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000357570p.Y2123*c.6369C>ASubstitution - Nonsense
ANKLE2ENSG00000176915ENST00000357997p.S264Ac.790T>GSubstitution - Missense
MRPL16ENSG00000166902ENST00000300151p.L97Lc.291G>ASubstitution - coding silent
WNT2BENSG00000134245ENST00000369684p.K327Rc.980A>GSubstitution - Missense
SPATA6ENSG00000132122ENST00000371847p.?c.405+3A>TUnknown
DLGAP4ENSG00000080845ENST00000373913p.Y76Cc.227A>GSubstitution - Missense
ERLIN2ENSG00000147475ENST00000276461p.E90Kc.268G>ASubstitution - Missense
MMRN1ENSG00000138722ENST00000394980p.G1110Gc.3330A>TSubstitution - coding silent
NM_006596.3p.?c.6949-2A>CUnknown
MAMDC4ENSG00000177943ENST00000317446p.T679Pc.2035A>CSubstitution - Missense
TANGO6ENSG00000103047ENST00000261778p.Q779Qc.2337G>ASubstitution - coding silent
LRRC55ENSG00000183908ENST00000497933p.C16Yc.47G>ASubstitution - Missense
CLEC16AENSG00000038532ENST00000409552p.L613Lc.1839C>GSubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.I1268Kc.3803T>ASubstitution - Missense
SUN5ENSG00000167098ENST00000356173p.R30*c.88C>TSubstitution - Nonsense
ENST00000368148p.A221Dc.662C>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.?c.1943-2A>CUnknown
TCHHL1ENSG00000182898ENST00000368806p.R156Gc.466A>GSubstitution - Missense
IGF2ENSG00000167244ENST00000434045p.G28Vc.83G>TSubstitution - Missense
CEP128ENSG00000100629ENST00000281129p.A624Sc.1870G>TSubstitution - Missense
AIM1LENSG00000176092ENST00000308182p.T27Ic.80C>TSubstitution - Missense
MED16ENSG00000175221ENST00000325464p.P538Sc.1612C>TSubstitution - Missense
ATP8A1ENSG00000124406ENST00000264449p.A812Pc.2434G>CSubstitution - Missense
WDR16ENSG00000166596ENST00000352665p.N23Dc.67A>GSubstitution - Missense
PTPRHENSG00000080031ENST00000376350p.R704Qc.2111G>ASubstitution - Missense
ENST00000405167p.S3136Cc.9407C>GSubstitution - Missense
KIF6ENSG00000164627ENST00000441975p.C158Gc.472T>GSubstitution - Missense
FBXO11ENSG00000138081ENST00000403359p.Y913Cc.2738A>GSubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.D512Dc.1536C>TSubstitution - coding silent
SLC4A2ENSG00000164889ENST00000485713p.Q400Ec.1198C>GSubstitution - Missense
MPDZENSG00000107186ENST00000541718p.R1150Kc.3449G>ASubstitution - Missense
KNG1ENSG00000113889ENST00000265023p.G518Sc.1552G>ASubstitution - Missense
PCLOENSG00000186472ENST00000423517p.E1936Dc.5808A>TSubstitution - Missense
ARHGEF11ENSG00000132694ENST00000368194p.P597Hc.1790C>ASubstitution - Missense
CLEC16AENSG00000038532ENST00000409790p.L631Lc.1893C>GSubstitution - coding silent
PRKAA1ENSG00000132356ENST00000397128p.S494Wc.1481C>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.N7140Yc.21418A>TSubstitution - Missense
MYH7BENSG00000078814ENST00000262873p.R124Hc.371G>ASubstitution - Missense
ENST00000356127p.W15751Cc.47253G>TSubstitution - Missense
HTR5AENSG00000157219ENST00000287907p.S331Sc.993C>TSubstitution - coding silent
ENST00000395214p.?c.1080-7A>GUnknown
ADAMTS20ENSG00000173157ENST00000553158p.D1203Ec.3609C>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.?c.4886-10T>AUnknown
AFAP1L2ENSG00000169129ENST00000304129p.R535*c.1603C>TSubstitution - Nonsense
NTNG1ENSG00000162631ENST00000370068p.D255Gc.764A>GSubstitution - Missense
CALD1ENSG00000122786ENST00000393118p.I451Tc.1352T>CSubstitution - Missense
COL20A1ENSG00000101203ENST00000358894p.R733Hc.2198G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.E1867Dc.5601A>TSubstitution - Missense
MAMDC4ENSG00000177943ENST00000445819p.T758Pc.2272A>CSubstitution - Missense
ENST00000368854p.P39Pc.117C>TSubstitution - coding silent
OR5W2ENSG00000187612ENST00000344514p.M45Ic.135G>ASubstitution - Missense
OR4A16ENSG00000181961ENST00000314721p.D20Yc.58G>TSubstitution - Missense
AMPHENSG00000078053ENST00000428293p.?c.1158+1G>TUnknown
OBSCNENSG00000154358ENST00000570156p.P604Pc.1812G>ASubstitution - coding silent
KDM4EENSG00000235268ENST00000450979p.E215Gc.644A>GSubstitution - Missense
KDM4EENSG00000235268ENST00000450979p.E215Gc.644A>GSubstitution - Missense
NM_002155.3p.R78Rc.234C>GSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313431p.I76Vc.226A>GSubstitution - Missense
TTC6ENSG00000139865ENST00000553443p.D1150Hc.3448G>CSubstitution - Missense
GBAENSG00000177628ENST00000368373p.E9Dc.27G>CSubstitution - Missense
SYT10ENSG00000110975ENST00000228567p.?c.1198+5G>TUnknown
ASH1LENSG00000116539ENST00000392403p.V2078Vc.6234T>CSubstitution - coding silent
JAG1ENSG00000101384ENST00000254958p.A833Vc.2498C>TSubstitution - Missense
SHBENSG00000107338ENST00000377707p.L395fs*54c.1184delTDeletion - Frameshift
DMXL1ENSG00000172869ENST00000539542p.L2888Fc.8664G>TSubstitution - Missense
XM_293342.3p.L96Lc.288C>ASubstitution - coding silent
SUGCTENSG00000175600ENST00000540834p.A67Tc.199G>ASubstitution - Missense
NRG3ENSG00000185737ENST00000372142p.D411Ec.1233C>ASubstitution - Missense
STAB2ENSG00000136011ENST00000388887p.L1066Ic.3196C>ASubstitution - Missense
ZNF496ENSG00000162714ENST00000294753p.S388Fc.1163C>TSubstitution - Missense
OR4N4ENSG00000183706ENST00000328795p.Q159Rc.476A>GSubstitution - Missense
ENST00000262017p.I370Tc.1109T>CSubstitution - Missense
ENST00000399933_v61p.G462Sc.1384G>ASubstitution - Missense
CPSF1ENSG00000071894ENST00000349769p.D581Ec.1743C>GSubstitution - Missense
APMAPENSG00000101474ENST00000217456p.D254Yc.760G>TSubstitution - Missense
WDR7ENSG00000091157ENST00000254442p.K801Ec.2401A>GSubstitution - Missense
ENST00000356127p.R19718Lc.59153G>TSubstitution - Missense
NM_003319p.W9254Cc.27762G>TSubstitution - Missense
KIAA1324LENSG00000164659ENST00000450689p.D420Gc.1259A>GSubstitution - Missense
SLC4A3ENSG00000114923ENST00000273063p.R107Sc.321G>TSubstitution - Missense
WDR52ENSG00000206530ENST00000295868p.R692Sc.2076G>TSubstitution - Missense
DMXL1ENSG00000172869ENST00000311085p.L2867Fc.8601G>TSubstitution - Missense
SLC35B3ENSG00000124786ENST00000426876p.V131Fc.391G>TSubstitution - Missense
TANGO6ENSG00000103047ENST00000261778p.Q308Qc.924G>ASubstitution - coding silent
SCN2AENSG00000136531ENST00000375437p.R524Lc.1571G>TSubstitution - Missense
MASP1ENSG00000127241ENST00000169293p.E105Dc.315G>CSubstitution - Missense
PKD2L2ENSG00000078795ENST00000508883p.K302Rc.905A>GSubstitution - Missense
TRPM6ENSG00000119121ENST00000449912p.T1306Ic.3917C>TSubstitution - Missense
PTDSS2ENSG00000174915ENST00000308020p.R62Qc.185G>ASubstitution - Missense
HCN4ENSG00000138622ENST00000261917p.D329Yc.985G>TSubstitution - Missense
MRE11AENSG00000020922ENST00000323929p.I621Ic.1863A>TSubstitution - coding silent
C10orf71ENSG00000177354ENST00000374144p.N405Kc.1215C>GSubstitution - Missense
NAT10ENSG00000135372ENST00000257829p.N738Sc.2213A>GSubstitution - Missense
TBC1D15ENSG00000121749ENST00000550746p.G670Gc.2010A>CSubstitution - coding silent
MED21ENSG00000152944ENST00000282892p.A41Tc.121G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.G4513Vc.13538G>TSubstitution - Missense
GABRB1ENSG00000163288ENST00000295454p.?c.240+5G>TUnknown
NM_007195.1p.?c.721+1G>CUnknown
HELZ2ENSG00000130589ENST00000467148p.T1019Tc.3057G>ASubstitution - coding silent
C2orf16ENSG00000221843ENST00000408964p.S1446Fc.4337C>TSubstitution - Missense
RREB1ENSG00000124782ENST00000379938p.P428Sc.1282C>TSubstitution - Missense
GRIA2ENSG00000120251ENST00000296526p.P425Pc.1275G>CSubstitution - coding silent
PCDHGA6ENSG00000253731ENST00000517434p.L577Lc.1731G>ASubstitution - coding silent
ABCA13ENSG00000179869ENST00000435803p.K2898Kc.8694A>GSubstitution - coding silent
SUGCTENSG00000175600ENST00000309930p.A74Tc.220G>ASubstitution - Missense
RIF1ENSG00000080345ENST00000444746p.P2294Lc.6881C>TSubstitution - Missense
VPS8ENSG00000156931ENST00000437079p.V421Ic.1261G>ASubstitution - Missense
OR5T3ENSG00000172489ENST00000303059p.K328Kc.984A>GSubstitution - coding silent
ANKMY1ENSG00000144504ENST00000361678p.L499Lc.1497G>TSubstitution - coding silent
SCAPERENSG00000140386ENST00000324767p.M476Ic.1428G>TSubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.L547Fc.1639C>TSubstitution - Missense
CRB1ENSG00000134376ENST00000367400p.D168Hc.502G>CSubstitution - Missense
PRAMEF2ENSG00000120952ENST00000240189p.G461Dc.1382G>ASubstitution - Missense
C1orf106ENSG00000163362ENST00000367342p.A420Ac.1260C>TSubstitution - coding silent
SYT11ENSG00000132718ENST00000368324p.R251Cc.751C>TSubstitution - Missense
PIGVENSG00000060642ENST00000374145p.R45Hc.134G>ASubstitution - Missense
ENST00000356127p.S3954Yc.11861C>ASubstitution - Missense
POLRMTENSG00000099821ENST00000588649p.A890Ac.2670G>ASubstitution - coding silent
PER1ENSG00000179094ENST00000317276p.P474Lc.1421C>TSubstitution - Missense
DEPDC5ENSG00000100150ENST00000400248p.P1403Tc.4207C>ASubstitution - Missense
NCOA1ENSG00000084676ENST00000406961p.T73Ic.218C>TSubstitution - Missense
VBP1ENSG00000155959ENST00000286428p.K153Mc.458A>TSubstitution - Missense
PKD2L2ENSG00000078795ENST00000290431p.K302Rc.905A>GSubstitution - Missense
ACOT7ENSG00000097021ENST00000377855p.A126Sc.376G>TSubstitution - Missense
TIE1ENSG00000066056ENST00000538015p.R219Hc.656G>ASubstitution - Missense
FN1ENSG00000115414ENST00000426059p.?c.416-6C>TUnknown
TBCDENSG00000141556ENST00000397466p.S235Sc.705G>TSubstitution - coding silent
USP47ENSG00000170242ENST00000399455p.R249fs*4c.738_739insAInsertion - Frameshift
ZNF229ENSG00000167383ENST00000291187p.G764Sc.2290G>ASubstitution - Missense
NTNG1ENSG00000162631ENST00000542803p.D255Gc.764A>GSubstitution - Missense
CDK17ENSG00000059758ENST00000543119p.R504Qc.1511G>ASubstitution - Missense
OR52B6ENSG00000187747ENST00000345043p.H200Dc.598C>GSubstitution - Missense
MPDZENSG00000107186ENST00000319217p.R1150Kc.3449G>ASubstitution - Missense
SMARCA4ENSG00000127616ENST00000429416p.E1310*c.3928G>TSubstitution - Nonsense
FLG2ENSG00000143520ENST00000388718p.S769Sc.2307C>TSubstitution - coding silent
NACAENSG00000196531ENST00000454682p.V164Vc.492G>TSubstitution - coding silent
ACTRT2ENSG00000169717ENST00000378404p.S139*c.416C>ASubstitution - Nonsense
PLEKHA6ENSG00000143850ENST00000272203p.C996*c.2988C>ASubstitution - Nonsense
PRKAA1ENSG00000132356ENST00000354209p.S509Wc.1526C>GSubstitution - Missense
ACOX1ENSG00000161533ENST00000301608p.R393Qc.1178G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H1981Hc.5943C>TSubstitution - coding silent
ENST00000405167p.H1981Hc.5943C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.S2216Lc.6647C>TSubstitution - Missense
POTEDENSG00000166351ENST00000299443p.S22Ic.65G>TSubstitution - Missense
TRANK1ENSG00000168016ENST00000428977p.?c.3105+1G>TUnknown
LAMA1ENSG00000101680ENST00000389658p.Q551Hc.1653G>CSubstitution - Missense
FAM46AENSG00000112773ENST00000369756p.V469Vc.1407G>ASubstitution - coding silent
EXOC1ENSG00000090989ENST00000346134p.V789Mc.2365G>ASubstitution - Missense
AFAP1L2ENSG00000169129ENST00000545353p.R588*c.1762C>TSubstitution - Nonsense
CRB1ENSG00000134376ENST00000535699p.D99Hc.295G>CSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.Q144*c.430C>TSubstitution - Nonsense
MAPK8ENSG00000107643ENST00000374182p.I157Vc.469A>GSubstitution - Missense
LYRM1ENSG00000102897ENST00000219168p.?c.159+1G>AUnknown
ENSG00000117598ENST00000263177p.Y205Nc.613T>ASubstitution - Missense
NM_014572p.G310Wc.928G>TSubstitution - Missense
AIM1LENSG00000176092ENST00000527815p.T198Ic.593C>TSubstitution - Missense
UBAP2ENSG00000137073ENST00000379238p.T414Ac.1240A>GSubstitution - Missense
KRTAP10-10ENSG00000221859ENST00000380095p.R232fs*>20c.693delCDeletion - Frameshift
DSC2ENSG00000134755ENST00000280904p.?c.474+1G>TUnknown
TTNENSG00000155657ENST00000359218p.R13348Lc.40043G>TSubstitution - Missense
CHMP1AENSG00000131165ENST00000253475p.R231Cc.691C>TSubstitution - Missense
RAI2ENSG00000131831ENST00000331511p.P415Hc.1244C>ASubstitution - Missense
FBXO11ENSG00000138081ENST00000402508p.Y829Cc.2486A>GSubstitution - Missense
GRIA2ENSG00000120251ENST00000264426p.P425Pc.1275G>CSubstitution - coding silent
MPLKIPENSG00000168303ENST00000306984p.P121Pc.363A>GSubstitution - coding silent
DDX1ENSG00000079785ENST00000381341p.?c.703-2A>GUnknown
OR5R1ENSG00000174942ENST00000312253p.H235Qc.705C>ASubstitution - Missense
WNT2BENSG00000134245ENST00000369686p.K308Rc.923A>GSubstitution - Missense
SCAPERENSG00000140386ENST00000538941p.M230Kc.689T>ASubstitution - Missense
CDK17ENSG00000059758ENST00000261211p.R504Qc.1511G>ASubstitution - Missense
MS4A4AENSG00000110079ENST00000395016p.I52Ic.156T>ASubstitution - coding silent
FLRT1ENSG00000126500ENST00000246841p.G97Sc.289G>ASubstitution - Missense
FAT3ENSG00000165323ENST00000298047p.A518Ac.1554G>TSubstitution - coding silent
NTNG1ENSG00000162631ENST00000370074p.D255Gc.764A>GSubstitution - Missense
PXDNLENSG00000147485ENST00000356297p.C68Fc.203G>TSubstitution - Missense
SIGLEC11ENSG00000161640ENST00000447370p.S413Sc.1239C>ASubstitution - coding silent
MED13ENSG00000108510ENST00000397786p.?c.5968+4C>GUnknown
COL18A1ENSG00000182871ENST00000359759p.P1260Lc.3779C>TSubstitution - Missense
CDH20ENSG00000101542ENST00000262717p.R89Kc.266G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.W9446Cc.28338G>TSubstitution - Missense
TSNAXIP1ENSG00000102904ENST00000388833p.Q46Qc.138G>ASubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.E1936Dc.5808A>TSubstitution - Missense
FAM124BENSG00000124019ENST00000409685p.P225Sc.673C>TSubstitution - Missense
TBC1D9ENSG00000109436ENST00000442267p.G1081Ac.3242G>CSubstitution - Missense
STARD8ENSG00000130052ENST00000252336p.P672Sc.2014C>TSubstitution - Missense
MICAL1ENSG00000135596ENST00000358807p.P668Rc.2003C>GSubstitution - Missense
SOCS5ENSG00000171150ENST00000306503p.S425Fc.1274C>TSubstitution - Missense
STOX2ENSG00000173320ENST00000308497p.K635Nc.1905G>TSubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.C1323Sc.3968G>CSubstitution - Missense
ACTL6AENSG00000136518ENST00000429709p.H105Rc.314A>GSubstitution - Missense
DIP2CENSG00000151240ENST00000540204p.E282Kc.844G>ASubstitution - Missense
ENST00000259410p.E16Ec.48G>ASubstitution - coding silent
ARHGAP44ENSG00000006740ENST00000379672p.R791Hc.2372G>ASubstitution - Missense
ZNF217ENSG00000171940ENST00000371471p.C674Sc.2021G>CSubstitution - Missense
PER2ENSG00000132326ENST00000254657p.P171Sc.511C>TSubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.V1608Vc.4824T>ASubstitution - coding silent
NM_003319p.R13223Lc.39668G>TSubstitution - Missense
HMGXB4ENSG00000100281ENST00000216106p.V7Mc.19G>ASubstitution - Missense
TRANK1ENSG00000168016ENST00000301807p.?c.3105+1G>TUnknown
MLF1ENSG00000178053ENST00000392822p.H38Dc.112C>GSubstitution - Missense
C9orf173ENSG00000197768ENST00000388931p.E327Kc.979G>ASubstitution - Missense
BAI3ENSG00000135298ENST00000370598p.L234Vc.700C>GSubstitution - Missense
BEND3ENSG00000178409ENST00000369042p.G287Vc.860G>TSubstitution - Missense
USP32ENSG00000170832ENST00000300896p.V566Vc.1698G>TSubstitution - coding silent
LPHN3ENSG00000150471ENST00000512091p.E1208Dc.3624G>CSubstitution - Missense
ODF2LENSG00000122417ENST00000294678p.?c.1272+5G>AUnknown
SARDHENSG00000123453ENST00000371872p.R691*c.2071C>TSubstitution - Nonsense
NTSR2ENSG00000169006ENST00000306928p.V361Mc.1081G>ASubstitution - Missense
ARHGEF5ENSG00000050327ENST00000056217p.P820Pc.2460G>ASubstitution - coding silent
MTPAPENSG00000107951ENST00000358107p.E72Dc.216G>TSubstitution - Missense
SIVA1ENSG00000184990ENST00000329967p.R83Hc.248G>ASubstitution - Missense
OTOGENSG00000188162ENST00000399397p.P849Lc.2546C>TSubstitution - Missense
CACNA1EENSG00000198216ENST00000367570p.Y2129*c.6387C>ASubstitution - Nonsense
TNNI1ENSG00000159173ENST00000367312p.?c.57+8T>GUnknown
ENST00000298047_v61p.A3943Ac.11829G>TSubstitution - coding silent
PCNXL4ENSG00000126773ENST00000406854p.T107Mc.320C>TSubstitution - Missense
OR2T1ENSG00000175143ENST00000366474p.I271Ic.813C>ASubstitution - coding silent
ODF2LENSG00000122417ENST00000370567p.?c.1272+5G>AUnknown
PLEKHN1ENSG00000187583ENST00000379410p.R154*c.460C>TSubstitution - Nonsense
TTNENSG00000155657ENST00000342992p.S3954Yc.11861C>ASubstitution - Missense
TM4SF5ENSG00000142484ENST00000270560p.G33Gc.99G>ASubstitution - coding silent
ENST00000340460p.K35Ic.104A>TSubstitution - Missense
ENST00000405167p.S2216Lc.6647C>TSubstitution - Missense
CCDC22ENSG00000101997ENST00000376227p.L484Lc.1450C>TSubstitution - coding silent
BOD1L1ENSG00000038219ENST00000040738p.N2607Yc.7819A>TSubstitution - Missense
TRIM41ENSG00000146063ENST00000351937p.D223Yc.667G>TSubstitution - Missense
NOD1ENSG00000106100ENST00000222823p.D770Nc.2308G>ASubstitution - Missense
TANGO6ENSG00000103047ENST00000261778p.D386Nc.1156G>ASubstitution - Missense
COBLL1ENSG00000082438ENST00000342193p.A352Vc.1055C>TSubstitution - Missense
USP31ENSG00000103404ENST00000219689p.E1034Ec.3102G>ASubstitution - coding silent
KANSL2ENSG00000139620ENST00000357861p.?c.124+2C>GUnknown
TICRRENSG00000140534ENST00000268138p.D1170Yc.3508G>TSubstitution - Missense
STAB2ENSG00000136011ENST00000388887p.?c.2998-1G>AUnknown
SNRPNENSG00000128739ENST00000400100p.P218Qc.653C>ASubstitution - Missense
LYRM1ENSG00000102897ENST00000396052p.?c.159+1G>AUnknown
DNAAF1ENSG00000154099ENST00000378553p.?c.2065+2T>CUnknown
KIF1AENSG00000130294ENST00000320389p.Y384*c.1152C>GSubstitution - Nonsense
SEC24BENSG00000138802ENST00000399100p.Y645Cc.1934A>GSubstitution - Missense
ZP3ENSG00000188372ENST00000394857p.D107Dc.321C>TSubstitution - coding silent
FAT4ENSG00000196159ENST00000394329p.V3939Vc.11817C>GSubstitution - coding silent
CCDC146ENSG00000135205ENST00000285871p.E286Gc.857A>GSubstitution - Missense
ATXN2LENSG00000168488ENST00000395547p.R1057Lc.3170G>TSubstitution - Missense
ADAM29ENSG00000168594ENST00000359240p.H28Lc.83A>TSubstitution - Missense
CACNA1EENSG00000198216ENST00000367567p.Y1736*c.5208C>ASubstitution - Nonsense
BAIAP3ENSG00000007516ENST00000397488p.P537Hc.1610C>ASubstitution - Missense
ERLIN2ENSG00000147475ENST00000523887p.D87Nc.259G>ASubstitution - Missense
AAMPENSG00000127837ENST00000248450p.V415Lc.1243G>TSubstitution - Missense
ZMIZ1ENSG00000108175ENST00000334512p.P555Pc.1665A>GSubstitution - coding silent
USP47ENSG00000170242ENST00000339865p.R161fs*4c.474_475insAInsertion - Frameshift
AGXT2ENSG00000113492ENST00000231420p.?c.1096+10A>TUnknown
TMPRSS11BENSG00000185873ENST00000332644p.?c.308+6T>CUnknown
KIDINS220ENSG00000134313ENST00000256707p.Q1249Hc.3747G>CSubstitution - Missense
ATP8A1ENSG00000124406ENST00000381668p.A827Pc.2479G>CSubstitution - Missense
APOOENSG00000184831ENST00000379226p.G48Cc.142G>TSubstitution - Missense
ACMSDENSG00000153086ENST00000356140p.D284Ec.852T>ASubstitution - Missense
GABBR1ENSG00000204681ENST00000377034p.R372Rc.1116G>CSubstitution - coding silent
SUGCTENSG00000175600ENST00000309930p.A74Tc.220G>ASubstitution - Missense
FANCBENSG00000181544ENST00000324138p.K611Ec.1831A>GSubstitution - Missense
CNGA2ENSG00000183862ENST00000329903p.V225Vc.675G>TSubstitution - coding silent
HIST1H3IENSG00000182572ENST00000328488p.R54Cc.160C>TSubstitution - Missense
HIST1H3IENSG00000182572ENST00000328488p.R41Pc.122G>CSubstitution - Missense
ENST00000319379p.K2843Kc.8529A>GSubstitution - coding silent
PVRIGENSG00000213413ENST00000317271p.P268Lc.803C>TSubstitution - Missense
C8orf74ENSG00000171060ENST00000304519p.N93Nc.279C>TSubstitution - coding silent
DCSTAMPENSG00000164935ENST00000297581p.V436Fc.1306G>TSubstitution - Missense
IST1ENSG00000182149ENST00000329908p.P280Pc.840A>TSubstitution - coding silent
LPHN3ENSG00000150471ENST00000512091p.E1208Dc.3624G>CSubstitution - Missense
XM_036729.3p.Y183*c.549T>ASubstitution - Nonsense
IFIH1ENSG00000115267ENST00000263642p.A691Gc.2072C>GSubstitution - Missense
TTC21BENSG00000123607ENST00000243344p.A285Sc.853G>TSubstitution - Missense
SCN2AENSG00000136531ENST00000375427p.R524Lc.1571G>TSubstitution - Missense
NM_003829.1p.R1150Kc.3449G>ASubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.T228Ac.682A>GSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.T228Ac.682A>GSubstitution - Missense
MASP1ENSG00000127241ENST00000296280p.E105Dc.315G>CSubstitution - Missense
MASP1ENSG00000127241ENST00000337774p.E105Dc.315G>CSubstitution - Missense
RWDD4ENSG00000182552ENST00000326397p.L27Fc.81A>CSubstitution - Missense
TNFRSF21ENSG00000146072ENST00000296861p.P146Lc.437C>TSubstitution - Missense
IL17FENSG00000112116ENST00000336123p.P48Pc.144G>TSubstitution - coding silent
ZNF496ENSG00000162714ENST00000366498p.S424Fc.1271C>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.Q144*c.430C>TSubstitution - Nonsense
MAPK8ENSG00000107643ENST00000374174p.I157Vc.469A>GSubstitution - Missense
ZNF33AENSG00000189180ENST00000432900p.P362Pc.1086C>GSubstitution - coding silent
ACBD5ENSG00000107897ENST00000375888p.G389Rc.1165G>ASubstitution - Missense
OR4C6ENSG00000181903ENST00000314259p.T190Nc.569C>ASubstitution - Missense
EP400ENSG00000183495ENST00000333577p.Q2797Qc.8391G>ASubstitution - coding silent
ANKLE2ENSG00000176915ENST00000337516p.S264Ac.790T>GSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000553158p.?c.1943-2A>CUnknown
RYR2ENSG00000198626ENST00000360064p.I1266Kc.3797T>ASubstitution - Missense
IL23RENSG00000162594ENST00000425614p.?c.331-5A>GUnknown
IL23RENSG00000162594ENST00000425614p.L360Fc.1080G>TSubstitution - Missense
ODF2LENSG00000122417ENST00000359242p.?c.1359+5G>AUnknown
SNRPNENSG00000128739ENST00000444203p.P222Qc.665C>ASubstitution - Missense
LITAFENSG00000189067ENST00000413364p.P39Pc.117C>TSubstitution - coding silent
EML2ENSG00000125746ENST00000536630p.A435Ac.1305G>ASubstitution - coding silent
ENST00000451442_v70p.L238Fc.714G>TSubstitution - Missense
MED16ENSG00000175221ENST00000312090p.P538Sc.1612C>TSubstitution - Missense
COL20A1ENSG00000101203ENST00000422202p.R740Hc.2219G>ASubstitution - Missense
USP41ENSG00000161133ENST00000454608p.Y168*c.504T>ASubstitution - Nonsense
PPP6R2ENSG00000100239ENST00000216061p.S825Fc.2474C>TSubstitution - Missense
DEPDC5ENSG00000100150ENST00000400246p.P1434Tc.4300C>ASubstitution - Missense
COBLL1ENSG00000082438ENST00000194871p.A418Vc.1253C>TSubstitution - Missense
MYT1LENSG00000186487ENST00000428368p.A581Ac.1743C>ASubstitution - coding silent
KIF1AENSG00000130294ENST00000498729p.Y384*c.1152C>GSubstitution - Nonsense
ANKMY1ENSG00000144504ENST00000391987p.L723Lc.2169G>TSubstitution - coding silent
VPS8ENSG00000156931ENST00000287546p.V421Ic.1261G>ASubstitution - Missense
ARPP21ENSG00000172995ENST00000458225p.L84Fc.250C>TSubstitution - Missense
INPP4BENSG00000109452ENST00000513000p.W521Lc.1562G>TSubstitution - Missense
ANK2ENSG00000145362ENST00000506722p.L1037Lc.3109C>TSubstitution - coding silent
ARHGAP20ENSG00000137727ENST00000533353p.S1137fs*17c.3406_3416del11Deletion - Frameshift
MICAL1ENSG00000135596ENST00000368952p.P687Rc.2060C>GSubstitution - Missense
ARSBENSG00000113273ENST00000396151p.Y210Fc.629A>TSubstitution - Missense
COL9A1ENSG00000112280ENST00000370499p.G104Vc.311G>TSubstitution - Missense
SLC35B3ENSG00000124786ENST00000339306p.V65Fc.193G>TSubstitution - Missense
SARDHENSG00000123453ENST00000371868p.R119*c.355C>TSubstitution - Nonsense
UBAP2ENSG00000137073ENST00000379225p.T47Ac.139A>GSubstitution - Missense
DHX32ENSG00000089876ENST00000284690p.I146Vc.436A>GSubstitution - Missense
C2CD3ENSG00000168014ENST00000313663p.T90Rc.269C>GSubstitution - Missense
ABCC8ENSG00000006071ENST00000389817p.L175Mc.523C>ASubstitution - Missense
FN1ENSG00000115414ENST00000354785p.?c.416-6C>TUnknown
FNDC1ENSG00000164694ENST00000297267p.V1787Vc.5361G>TSubstitution - coding silent
SEMA3DENSG00000153993ENST00000284136p.S709Tc.2125T>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.E1936Dc.5808A>TSubstitution - Missense
NXPH1ENSG00000122584ENST00000405863p.S270Sc.810G>ASubstitution - coding silent
KIAA1324LENSG00000164659ENST00000297222p.D180Gc.539A>GSubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.A679Ac.2037C>ASubstitution - coding silent
FAM124BENSG00000124019ENST00000243806p.P225Sc.673C>TSubstitution - Missense
COL4A4ENSG00000081052ENST00000396625p.G834Wc.2500G>TSubstitution - Missense
BRD1ENSG00000100425ENST00000216267p.P764Pc.2292C>TSubstitution - coding silent
BRD1ENSG00000100425ENST00000342989p.P359Pc.1077C>TSubstitution - coding silent
PPP6R2ENSG00000100239ENST00000359139p.S792Fc.2375C>TSubstitution - Missense
ARSBENSG00000113273ENST00000264914p.Y210Fc.629A>TSubstitution - Missense
WDR41ENSG00000164253ENST00000296679p.I91Tc.272T>CSubstitution - Missense
UFSP1ENSG00000176125ENST00000388761p.D66fs*38c.189_190insGInsertion - Frameshift
RELNENSG00000189056ENST00000343529p.G53Sc.157G>ASubstitution - Missense
FKBP6ENSG00000077800ENST00000252037p.F227Fc.681T>CSubstitution - coding silent
FKBP6ENSG00000077800ENST00000252037p.F227Fc.681T>CSubstitution - coding silent
IZUMO3ENSG00000205442ENST00000543880p.?c.391+10A>GUnknown
STARD8ENSG00000130052ENST00000374599p.P752Sc.2254C>TSubstitution - Missense
STARD8ENSG00000130052ENST00000252336p.P672Sc.2014C>TSubstitution - Missense
GMIPENSG00000089639ENST00000203556p.P390Ac.1168C>GSubstitution - Missense
SLC8A2ENSG00000118160ENST00000236877p.G712Vc.2135G>TSubstitution - Missense
CNTN6ENSG00000134115ENST00000446702p.W5Rc.13T>ASubstitution - Missense
ATG7ENSG00000197548ENST00000354449p.Y51Cc.152A>GSubstitution - Missense
AMOTL2ENSG00000114019ENST00000249883p.P204Lc.611C>TSubstitution - Missense
TRIM42ENSG00000155890ENST00000286349p.S69Pc.205T>CSubstitution - Missense
NM_003866.1p.W521Lc.1562G>TSubstitution - Missense
TBC1D9ENSG00000109436ENST00000442267p.G1081Ac.3242G>CSubstitution - Missense
NR3C2ENSG00000151623ENST00000358102p.A301Vc.902C>TSubstitution - Missense
DCHS2ENSG00000197410ENST00000357232p.M2501Tc.7502T>CSubstitution - Missense
PDLIM3ENSG00000154553ENST00000284771p.Q156Ec.466C>GSubstitution - Missense
STOX2ENSG00000173320ENST00000308497p.K659Nc.1977G>TSubstitution - Missense
PRDM6ENSG00000061455ENST00000407847p.Q571Kc.1711C>ASubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.C1323Sc.3968G>CSubstitution - Missense
PCDH11YENSG00000099715ENST00000215473p.L1073Fc.3217C>TSubstitution - Missense
PICK1ENSG00000100151ENST00000404072p.?c.493+1G>CUnknown
RAC2ENSG00000128340ENST00000249071p.P140Lc.419C>TSubstitution - Missense
RREB1ENSG00000124782ENST00000379933p.P428Sc.1282C>TSubstitution - Missense
RREB1ENSG00000124782ENST00000379938p.P428Lc.1283C>TSubstitution - Missense
RREB1ENSG00000124782ENST00000379933p.P428Lc.1283C>TSubstitution - Missense
COL9A1ENSG00000112280ENST00000357250p.G347Vc.1040G>TSubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.D512Dc.1536C>TSubstitution - coding silent
GJA1ENSG00000152661ENST00000282561p.L347Pc.1040T>CSubstitution - Missense
MOXD1ENSG00000079931ENST00000367963p.E374Dc.1122A>TSubstitution - Missense
MOXD1ENSG00000079931ENST00000336749p.E306Dc.918A>TSubstitution - Missense
SLC35B3ENSG00000124786ENST00000379660p.V65Fc.193G>TSubstitution - Missense
FAM46AENSG00000112773ENST00000320172p.V388Vc.1164G>ASubstitution - coding silent
ASIC2ENSG00000108684ENST00000225823p.?c.1521+5G>TUnknown
ASIC2ENSG00000108684ENST00000359872p.?c.1368+5G>TUnknown
AP2B1ENSG00000006125ENST00000312678p.D946Nc.2836G>ASubstitution - Missense
EPAS1ENSG00000116016ENST00000263734p.T766Tc.2298C>TSubstitution - coding silent
VAT1ENSG00000108828ENST00000355653p.R133Qc.398G>ASubstitution - Missense
ABCC3ENSG00000108846ENST00000285238p.L1441Fc.4321C>TSubstitution - Missense
COILENSG00000121058ENST00000240316p.S248Sc.744G>ASubstitution - coding silent
LRRC31ENSG00000114248ENST00000316428p.?c.991+1G>AUnknown
PCDHGA10ENSG00000253846ENST00000398610p.A635Vc.1904C>TSubstitution - Missense
PCDHGA10ENSG00000253846ENST00000398610p.L577Lc.1731G>ASubstitution - coding silent
PCDHGA7ENSG00000253537ENST00000518325p.W27Cc.81G>TSubstitution - Missense
TRPM6ENSG00000119121ENST00000451710p.T1311Ic.3932C>TSubstitution - Missense
TRPM6ENSG00000119121ENST00000360774p.T1311Ic.3932C>TSubstitution - Missense
AMPHENSG00000078053ENST00000356264p.?c.1158+1G>TUnknown
HECW1ENSG00000002746ENST00000395891p.G665Vc.1994G>TSubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.G665Vc.1994G>TSubstitution - Missense
SDK1ENSG00000146555ENST00000404826p.T2111Tc.6333C>TSubstitution - coding silent
CSH2ENSG00000213218ENST00000392886p.R204Hc.611G>ASubstitution - Missense
ANKRD13BENSG00000198720ENST00000394859p.P541Tc.1621C>ASubstitution - Missense
GAAENSG00000171298ENST00000390015p.P161fs*15c.480_481delCCDeletion - Frameshift
TBCDENSG00000141556ENST00000355528p.S621Sc.1863G>TSubstitution - coding silent
PER1ENSG00000179094ENST00000317276p.L496Lc.1488G>TSubstitution - coding silent
DSC2ENSG00000134755ENST00000251081p.?c.474+1G>TUnknown
SMARCA4ENSG00000127616ENST00000358026p.E1310*c.3928G>TSubstitution - Nonsense
COL18A1ENSG00000182871ENST00000355480p.P1025Lc.3074C>TSubstitution - Missense
YWHAQENSG00000134308ENST00000238081p.?c.581_582+42del44Unknown
ABCC12ENSG00000140798ENST00000311303p.G683Rc.2047G>ASubstitution - Missense
PGAP3ENSG00000161395ENST00000300658p.D305Gc.914A>GSubstitution - Missense
DCAF4L1ENSG00000182308ENST00000333141p.W341Cc.1023G>TSubstitution - Missense
DCDC2ENSG00000146038ENST00000378454p.P305Tc.913C>ASubstitution - Missense
PARP12ENSG00000059378ENST00000263549p.P637Pc.1911G>CSubstitution - coding silent
ETV1ENSG00000006468ENST00000430479p.R37Sc.111A>TSubstitution - Missense
LOXHD1ENSG00000167210ENST00000536736p.R587Qc.1760G>ASubstitution - Missense
LOXHD1ENSG00000167210ENST00000398722p.R309Qc.926G>ASubstitution - Missense
POLIENSG00000101751ENST00000579534p.?c.796+1G>CUnknown
ZNF532ENSG00000074657ENST00000336078p.L1228Lc.3682T>CSubstitution - coding silent
ROCK1ENSG00000067900ENST00000399799p.V266Vc.798A>GSubstitution - coding silent
APMAPENSG00000101474ENST00000451442p.L238Fc.714G>TSubstitution - Missense
SEPT5ENSG00000184702ENST00000455784p.G142Sc.424G>ASubstitution - Missense
RAD51AP2ENSG00000214842ENST00000399080p.Q944Hc.2832G>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.R13415Lc.40244G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.W15751Cc.47253G>TSubstitution - Missense
NCOA1ENSG00000084676ENST00000405141p.T73Ic.218C>TSubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.L1111Lc.3333A>GSubstitution - coding silent
TMEM131ENSG00000075568ENST00000186436p.L998Lc.2994A>GSubstitution - coding silent
MYH15ENSG00000144821ENST00000273353p.?c.678+8T>CUnknown
DNAJA3ENSG00000103423ENST00000262375p.G464Ac.1391G>CSubstitution - Missense
DNAJA3ENSG00000103423ENST00000262375p.G464Ac.1391G>CSubstitution - Missense
MC1RENSG00000258839ENST00000555147p.N279Kc.837C>ASubstitution - Missense
PIRTENSG00000233670ENST00000580256p.G69Sc.205G>ASubstitution - Missense
ARFGAP1ENSG00000101199ENST00000353546p.V15Mc.43G>ASubstitution - Missense
ARFGAP1ENSG00000101199ENST00000370275p.V15Mc.43G>ASubstitution - Missense
COL20A1ENSG00000101203ENST00000326996p.R733Hc.2198G>ASubstitution - Missense
PRPF6ENSG00000101161ENST00000266079p.I491Tc.1472T>CSubstitution - Missense
NRBP1ENSG00000115216ENST00000233557p.F262fs*34c.784delTDeletion - Frameshift
BPIFCENSG00000184459ENST00000397452p.L320Ic.958C>ASubstitution - Missense
DEPDC5ENSG00000100150ENST00000535622p.P1334Tc.4000C>ASubstitution - Missense
CAPN13ENSG00000162949ENST00000295055p.?c.1984-9A>TUnknown
MUC4ENSG00000145113ENST00000463781p.A3136Gc.9407C>GSubstitution - Missense
SEC24BENSG00000138802ENST00000265175p.Y680Cc.2039A>GSubstitution - Missense
ERLIN2ENSG00000147475ENST00000276461p.D87Nc.259G>ASubstitution - Missense
CCDC22ENSG00000101997ENST00000376227p.L484Lc.1450C>TSubstitution - coding silent
ZNF497ENSG00000174586ENST00000311044p.R350Rc.1050C>ASubstitution - coding silent
GLOD4ENSG00000167699ENST00000301329p.A43Tc.127G>ASubstitution - Missense
TRANK1ENSG00000168016ENST00000429976p.?c.4755+1G>TUnknown
ARPP21ENSG00000172995ENST00000187397p.L84Fc.250C>TSubstitution - Missense
ARPP21ENSG00000172995ENST00000428373p.L84Fc.250C>TSubstitution - Missense
CCT5ENSG00000150753ENST00000280326p.R126Rc.378A>GSubstitution - coding silent
DYSFENSG00000135636ENST00000410020p.I1036Ic.3108C>TSubstitution - coding silent
DYSFENSG00000135636ENST00000258104p.I1018Ic.3054C>TSubstitution - coding silent
DYSFENSG00000135636ENST00000410020p.P1037Tc.3109C>ASubstitution - Missense
DYSFENSG00000135636ENST00000258104p.P1019Tc.3055C>ASubstitution - Missense
FAM194AENSG00000163645ENST00000295910p.P460Tc.1378C>ASubstitution - Missense
HS3ST1ENSG00000002587ENST00000002596p.A83Ac.249G>ASubstitution - coding silent
KPNA4ENSG00000186432ENST00000334256p.C191Sc.572G>CSubstitution - Missense
MLF1ENSG00000178053ENST00000355893p.H22Dc.64C>GSubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.L1046Lc.3136C>TSubstitution - coding silent
BOD1L1ENSG00000038219ENST00000040738p.V1134Vc.3402A>GSubstitution - coding silent
JADE1ENSG00000077684ENST00000226319p.Y530*c.1590C>ASubstitution - Nonsense
ADAMTS12ENSG00000151388ENST00000504830p.T428Ic.1283C>TSubstitution - Missense
TAB2ENSG00000055208ENST00000538427p.I8Ic.24T>ASubstitution - coding silent
ANKK1ENSG00000170209ENST00000303941p.P148Lc.443C>TSubstitution - Missense
ARHGAP20ENSG00000137727ENST00000260283p.S1163fs*17c.3484_3494del11Deletion - Frameshift
NTNG1ENSG00000162631ENST00000370071p.D255Gc.764A>GSubstitution - Missense
ANKRD35ENSG00000198483ENST00000355594p.?c.560+7C>TUnknown
CFHENSG00000000971ENST00000367429p.Y1205*c.3615T>ASubstitution - Nonsense
CDNFENSG00000185267ENST00000465530p.A91Tc.271G>ASubstitution - Missense
LITAFENSG00000189067ENST00000571688p.P39Pc.117C>TSubstitution - coding silent
LITAFENSG00000189067ENST00000381810p.P39Pc.117C>TSubstitution - coding silent
MAPK8ENSG00000107643ENST00000374176p.I157Vc.469A>GSubstitution - Missense
BAIAP3ENSG00000007516ENST00000324385p.P555Hc.1664C>ASubstitution - Missense
OGDHLENSG00000197444ENST00000374103p.T865Tc.2595C>TSubstitution - coding silent
ERCC6ENSG00000225830ENST00000355832p.G920_V921insLGc.2754_2755insTTAGGCInsertion - In frame
C10orf71ENSG00000177354ENST00000323868p.N405Kc.1215C>GSubstitution - Missense
NUDT13ENSG00000166321ENST00000357321p.T176Ic.527C>TSubstitution - Missense
PCNXL3ENSG00000197136ENST00000355703p.R769Lc.2306G>TSubstitution - Missense
ENST00000309024p.R650Lc.1949G>TSubstitution - Missense
PCNXL3ENSG00000197136ENST00000355703p.R650Lc.1949G>TSubstitution - Missense
SSSCA1ENSG00000173465ENST00000309328p.Q116Ec.346C>GSubstitution - Missense
ENST00000325093p.G92Ec.275G>ASubstitution - Missense
TIE1ENSG00000066056ENST00000372476p.R219Hc.656G>ASubstitution - Missense
NOS1ENSG00000089250ENST00000317775p.V853Vc.2559C>ASubstitution - coding silent
RNF10ENSG00000022840ENST00000325954p.T154Mc.461C>TSubstitution - Missense
TNFRSF4ENSG00000186827ENST00000379236p.R108Rc.324C>ASubstitution - coding silent
MFN2ENSG00000116688ENST00000235329p.R259Cc.775C>TSubstitution - Missense
UBR1ENSG00000159459ENST00000290650p.S1075fs*4c.3225_3226delTGDeletion - Frameshift
FANCMENSG00000187790ENST00000267430p.R100Rc.300G>TSubstitution - coding silent
SETD3ENSG00000183576ENST00000331768p.A461Sc.1381G>TSubstitution - Missense
ATG2BENSG00000066739ENST00000359933p.P757Sc.2269C>TSubstitution - Missense
ENSG00000206044ENST00000382678p.Q255*c.763C>TSubstitution - Nonsense
CLK2ENSG00000176444ENST00000361168p.?c.669-10C>AUnknown
FAT3ENSG00000165323ENST00000409404p.A3943Ac.11829G>TSubstitution - coding silent
PIWIL1ENSG00000125207ENST00000245255p.T331Tc.993C>ASubstitution - coding silent
ARID1AENSG00000117713ENST00000324856p.R1833Cc.5497C>TSubstitution - Missense
ACOT7ENSG00000097021ENST00000377845p.A96Sc.286G>TSubstitution - Missense
IL23RENSG00000162594ENST00000347310p.?c.1046-5A>GUnknown
IL23RENSG00000162594ENST00000347310p.G599Wc.1795G>TSubstitution - Missense
RTN1ENSG00000139970ENST00000267484p.R375Rc.1123C>ASubstitution - coding silent
ITGA11ENSG00000137809ENST00000315757p.?c.601-9C>TUnknown
TIPINENSG00000075131ENST00000261881p.?c.683-4T>GUnknown
PLEKHN1ENSG00000187583ENST00000379409p.R154*c.460C>TSubstitution - Nonsense
LATS2ENSG00000150457ENST00000382592p.G310Wc.928G>TSubstitution - Missense
USP10ENSG00000103194ENST00000219473p.T105Sc.314C>GSubstitution - Missense
ITGB3ENSG00000259207ENST00000435993p.I323Tc.968T>CSubstitution - Missense
JAG1ENSG00000101384ENST00000254958p.A833Vc.2498C>TSubstitution - Missense
ENST00000356127p.N7140Yc.21418A>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.G4446Vc.13337G>TSubstitution - Missense
NM_003319p.G4321Vc.12962G>TSubstitution - Missense
MYT1LENSG00000186487ENST00000399161p.A583Ac.1749C>ASubstitution - coding silent
RDH14ENSG00000240857ENST00000381249p.A232Tc.694G>ASubstitution - Missense
MAP2ENSG00000078018ENST00000360351p.P524Lc.1571C>TSubstitution - Missense
RPEENSG00000197713ENST00000359429p.R25Gc.73C>GSubstitution - Missense
PXDNLENSG00000147485ENST00000356297p.C869Fc.2606G>TSubstitution - Missense
FN1ENSG00000115414ENST00000336916p.?c.416-6C>TUnknown
XKR4ENSG00000206579ENST00000327381p.W475*c.1425G>ASubstitution - Nonsense
ALKBH7ENSG00000125652ENST00000245812p.A95Ac.285C>TSubstitution - coding silent
ENST00000215591p.A875Ac.2625G>ASubstitution - coding silent
ACOX1ENSG00000161533ENST00000293217p.R393Qc.1178G>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.Q144*c.430C>TSubstitution - Nonsense
BPIFB1ENSG00000125999ENST00000253354p.Q336Kc.1006C>ASubstitution - Missense
NCOA6ENSG00000198646ENST00000374796p.A196Tc.586G>ASubstitution - Missense
ZNF217ENSG00000171940ENST00000371471p.C674Sc.2021G>CSubstitution - Missense
FAM71F2ENSG00000205085ENST00000480462p.L126Lc.376C>TSubstitution - coding silent
GPR37ENSG00000170775ENST00000303921p.A263Ac.789G>TSubstitution - coding silent
CA3ENSG00000164879ENST00000285381p.D161Nc.481G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.Q144*c.430C>TSubstitution - Nonsense
APCENSG00000134982ENST00000457016p.A1107fs*12c.3317_3318insGInsertion - Frameshift
TP53ENSG00000141510ENST00000269305p.Q144*c.430C>TSubstitution - Nonsense
ENST00000414315p.Q12*c.34C>TSubstitution - Nonsense
ENST00000545858p.Q51*c.151C>TSubstitution - Nonsense
ACOT7ENSG00000097021ENST00000361521p.A116Sc.346G>TSubstitution - Missense
ACOT7ENSG00000097021ENST00000377842p.A75Sc.223G>TSubstitution - Missense
ACBD5ENSG00000107897ENST00000396271p.G380Rc.1138G>ASubstitution - Missense
ACBD5ENSG00000107897ENST00000375905p.G345Rc.1033G>ASubstitution - Missense
EML2ENSG00000125746ENST00000245925p.A288Ac.864G>ASubstitution - coding silent
THSD4ENSG00000187720ENST00000355327p.R1006Gc.3016C>GSubstitution - Missense
SCAPERENSG00000140386ENST00000538941p.M230Ic.690G>TSubstitution - Missense
SCAPERENSG00000140386ENST00000324767p.M476Kc.1427T>ASubstitution - Missense
GIT2ENSG00000139436ENST00000355312p.S570Lc.1709C>TSubstitution - Missense
MTPAPENSG00000107951ENST00000358107p.G73Cc.217G>TSubstitution - Missense
RASGEF1AENSG00000198915ENST00000395809p.V386Fc.1156G>TSubstitution - Missense
NM_145313.1p.V333Fc.997G>TSubstitution - Missense
DIP2CENSG00000151240ENST00000280886p.E961Kc.2881G>ASubstitution - Missense
ZNF33AENSG00000189180ENST00000307441p.P355Pc.1065C>GSubstitution - coding silent
SU_OBSCN.1p.P604Pc.1812G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.P604Pc.1812G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000359599p.P604Pc.1812G>ASubstitution - coding silent
NRG3ENSG00000185737ENST00000372141p.D608Ec.1824C>ASubstitution - Missense
CYP2C9ENSG00000138109ENST00000260682p.Q340Kc.1018C>ASubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.L1772Fc.5316G>CSubstitution - Missense
ENST00000349637p.L1775Fc.5325G>CSubstitution - Missense
APLP2ENSG00000084234ENST00000263574p.V139Ic.415G>ASubstitution - Missense
ENST00000368148p.K2202Kc.6606A>GSubstitution - coding silent
NACAENSG00000196531ENST00000550952p.V164Vc.492G>TSubstitution - coding silent
POC1BENSG00000139323ENST00000313546p.G16fs*48c.47delGDeletion - Frameshift
GALNT4ENSG00000257594ENST00000413530p.A103fs*145c.307delGDeletion - Frameshift
GALNT2ENSG00000143641ENST00000366672p.K427Kc.1281A>GSubstitution - coding silent
TRIM11ENSG00000154370ENST00000284551p.P396Ac.1186C>GSubstitution - Missense
AGTENSG00000135744ENST00000366667p.R196Rc.588G>ASubstitution - coding silent
EP400ENSG00000183495ENST00000389561p.Q2761Qc.8283G>ASubstitution - coding silent
PIK3C2GENSG00000139144ENST00000433979p.L547Fc.1639C>TSubstitution - Missense
SLCO1B1ENSG00000134538ENST00000256958p.K285Ec.853A>GSubstitution - Missense
SLCO1B3ENSG00000111700ENST00000381545p.V221Vc.663C>ASubstitution - coding silent
KANSL2ENSG00000139620ENST00000420613p.?c.709+2C>GUnknown
KANSL2ENSG00000139620ENST00000420613p.?c.709+2C>GUnknown
TMC3ENSG00000188869ENST00000359440p.G808Ec.2423G>ASubstitution - Missense
C2CD3ENSG00000168014ENST00000334126p.T90Rc.269C>GSubstitution - Missense
C2CD3ENSG00000168014ENST00000313663p.T44Tc.132T>ASubstitution - coding silent
C2CD3ENSG00000168014ENST00000334126p.T44Tc.132T>ASubstitution - coding silent
CPXM2ENSG00000121898ENST00000241305p.P543Pc.1629C>TSubstitution - coding silent
ENST00000368643p.R252Rc.756A>TSubstitution - coding silent
METTL3ENSG00000165819ENST00000298717p.R178Wc.532C>TSubstitution - Missense
MS4A4AENSG00000110079ENST00000337908p.I71Ic.213T>ASubstitution - coding silent
PNLIPENSG00000175535ENST00000369221p.S405*c.1214C>GSubstitution - Nonsense
PNLIPENSG00000175535ENST00000369221p.S405*c.1214C>GSubstitution - Nonsense
PKD2L1ENSG00000107593ENST00000318222p.T39Tc.117C>ASubstitution - coding silent
HEPHL1ENSG00000181333ENST00000315765p.F699Yc.2096T>ASubstitution - Missense
CCDC82ENSG00000149231ENST00000278520p.R512Rc.1536G>ASubstitution - coding silent
GLT8D2ENSG00000120820ENST00000360814p.L135Lc.403C>TSubstitution - coding silent
LRRK2ENSG00000188906ENST00000298910p.C228Sc.683G>CSubstitution - Missense
SU_LRRK2p.C228Sc.683G>CSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.D1203Ec.3609C>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.D1203Ec.3609C>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.?c.1943-2A>CUnknown
ARID2ENSG00000189079ENST00000334344p.Q1678Lc.5033A>TSubstitution - Missense
F5ENSG00000198734ENST00000367797p.G1227Rc.3679G>CSubstitution - Missense
LAPTM5ENSG00000162511ENST00000294507p.R18Cc.52C>TSubstitution - Missense
CACNA1EENSG00000198216ENST00000367573p.Y2172*c.6516C>ASubstitution - Nonsense
ENST00000319106_v68p.G661Gc.1983A>CSubstitution - 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