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COR-L105 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

362 mutations reported
110 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
OR10K1ENSG00000173285ENST00000289451p.F194Lc.582C>ASubstitution - Missense
NACAENSG00000196531ENST00000550952p.G306Gc.918C>TSubstitution - coding silent
LSM14BENSG00000149657ENST00000279068p.F318Fc.954C>TSubstitution - coding silent
CMIPENSG00000153815ENST00000537098p.N145Sc.434A>GSubstitution - Missense
OLAHENSG00000152463ENST00000378217p.T244Ic.731C>TSubstitution - Missense
MAZENSG00000103495ENST00000322945p.C339Cc.1017C>TSubstitution - coding silent
ZNF256ENSG00000152454ENST00000282308p.H362fs*3c.1086_1087delTADeletion - Frameshift
BIRC8ENSG00000163098ENST00000426466p.V150Lc.448G>CSubstitution - Missense
EPPINENSG00000101448ENST00000555685p.P132Lc.395C>TSubstitution - Missense
WFDC6ENSG00000243543ENST00000372670p.P32Lc.95C>TSubstitution - Missense
ENST00000319379p.C4269Sc.12805T>ASubstitution - Missense
PCDHA5ENSG00000204965ENST00000529859p.A445Tc.1333G>ASubstitution - Missense
UNC45BENSG00000141161ENST00000394570p.R222Rc.664C>ASubstitution - coding silent
C14orf119ENSG00000179933ENST00000319074p.P10Ac.28C>GSubstitution - Missense
DHRS1ENSG00000157379ENST00000396813p.D64Nc.190G>ASubstitution - Missense
PYHIN1ENSG00000163564ENST00000368140p.V355Ac.1064T>CSubstitution - Missense
DLG5ENSG00000151208ENST00000372391p.N259Nc.777C>TSubstitution - coding silent
RHPN2ENSG00000131941ENST00000400226p.T511Mc.1532C>TSubstitution - Missense
SEBOX,VTNENSG00000109072ENST00000226218p.R176Rc.528A>GSubstitution - coding silent
TEKENSG00000120156ENST00000380036p.Q696Hc.2088G>CSubstitution - Missense
ZNF652ENSG00000198740ENST00000362063p.S27Sc.81C>TSubstitution - coding silent
WNT7BENSG00000188064ENST00000339464p.G146Gc.438C>TSubstitution - coding silent
NUPL2ENSG00000136243ENST00000258742p.C4Wc.12T>GSubstitution - Missense
ZNF544ENSG00000198131ENST00000269829p.E608Kc.1822G>ASubstitution - Missense
APPENSG00000142192ENST00000346798p.R288Qc.863G>ASubstitution - Missense
KIF2BENSG00000141200ENST00000268919p.G388Rc.1162G>ASubstitution - Missense
NCKAP5ENSG00000176771ENST00000409261p.L1425Qc.4274T>ASubstitution - Missense
HLA-DRB1ENSG00000196126ENST00000360004p.A87Dc.260C>ASubstitution - Missense
MS4A6EENSG00000166926ENST00000300182p.P27Pc.81C>ASubstitution - coding silent
PEAK1ENSG00000173517ENST00000312493p.S1075Tc.3223T>ASubstitution - Missense
SCAPERENSG00000140386ENST00000538941p.E209Ec.627A>GSubstitution - coding silent
C1RLENSG00000139178ENST00000266542p.G459Dc.1376G>ASubstitution - Missense
HTRA1ENSG00000166033ENST00000368984p.L309Hc.926T>ASubstitution - Missense
PER1ENSG00000179094ENST00000317276p.L643Lc.1929C>TSubstitution - coding silent
ENSG00000212997ENST00000391679p.L29fs*29c.84_85insGInsertion - Frameshift
SLC47A2ENSG00000180638ENST00000350657p.G81Rc.241G>ASubstitution - Missense
FLNCENSG00000128591ENST00000325888p.R2230Hc.6689G>ASubstitution - Missense
BTBD3ENSG00000132640ENST00000378226p.L220Lc.660G>TSubstitution - coding silent
ENST00000272666p.V2132Vc.6396G>ASubstitution - coding silent
ABCA13ENSG00000179869ENST00000435803p.C4324Sc.12970T>ASubstitution - Missense
PCDHA6ENSG00000081842ENST00000378126p.A445Tc.1333G>ASubstitution - Missense
NUP98ENSG00000110713ENST00000359171p.?c.4167+2T>CUnknown
CECR2ENSG00000099954ENST00000400585p.T1424Pc.4270A>CSubstitution - Missense
ATP13A2ENSG00000159363ENST00000341676p.R1028Hc.3083G>ASubstitution - Missense
ERCC8ENSG00000049167ENST00000265038p.A203Vc.608C>TSubstitution - Missense
PABPC1LENSG00000101104ENST00000217073p.V599Mc.1795G>ASubstitution - Missense
PEAK1ENSG00000173517ENST00000312493p.S1075*c.3224C>ASubstitution - Nonsense
USP1ENSG00000162607ENST00000371146p.T346Ac.1036A>GSubstitution - Missense
GALNT18ENSG00000110328ENST00000227756p.G429Rc.1285G>ASubstitution - Missense
KRTAP5-2ENSG00000205867ENST00000412090p.G99Gc.297C>TSubstitution - coding silent
GPCPD1ENSG00000125772ENST00000379019p.D170Ec.510C>ASubstitution - Missense
ASTE1ENSG00000034533ENST00000264992p.R240Cc.718C>TSubstitution - Missense
TENM3ENSG00000218336ENST00000511685p.I410Tc.1229T>CSubstitution - Missense
NM_182507.1p.V440Ac.1319T>CSubstitution - Missense
CCNYENSG00000108100ENST00000374706p.R253Cc.757C>TSubstitution - Missense
ATP8B2ENSG00000143515ENST00000368487p.V145Vc.435G>ASubstitution - coding silent
SLC47A2ENSG00000180638ENST00000325411p.G81Rc.241G>ASubstitution - Missense
PLEKHJ1ENSG00000104886ENST00000326631p.A149Vc.446C>TSubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.E379*c.1135G>TSubstitution - Nonsense
MUC16ENSG00000181143ENST00000397910p.F10332Lc.30996C>ASubstitution - Missense
HIST1H4GENSG00000124578ENST00000244537p.T81Tc.243G>ASubstitution - coding silent
CYB5R4ENSG00000065615ENST00000369681p.A412Gc.1235C>GSubstitution - Missense
AOC2ENSG00000131480ENST00000253799p.N490Nc.1470C>TSubstitution - coding silent
BAIAP2L2ENSG00000128298ENST00000381669p.P398_T403delPMTSMTc.1192_1209del18Deletion - In frame
CCNT2ENSG00000082258ENST00000264157p.V268Gc.803T>GSubstitution - Missense
EEPD1ENSG00000122547ENST00000242108p.S112Gc.334A>GSubstitution - Missense
CACNA1EENSG00000198216ENST00000357570p.F21Lc.61T>CSubstitution - Missense
DNAH6ENSG00000115423ENST00000398278p.Q2374Lc.7121A>TSubstitution - Missense
LSM14BENSG00000149657ENST00000253001p.F318Fc.954C>TSubstitution - coding silent
CACNA1EENSG00000198216ENST00000367573p.F70Lc.208T>CSubstitution - Missense
ITGA10ENSG00000143127ENST00000369304p.?c.2920-52_2958del91Unknown
BAIAP3ENSG00000007516ENST00000324385p.R1064fs*7c.3191delGDeletion - Frameshift
XCL2ENSG00000143185ENST00000367819p.I5Ic.15C>TSubstitution - coding silent
FLGENSG00000143631ENST00000368799p.H2592Hc.7776T>CSubstitution - coding silent
MYOCENSG00000034971ENST00000037502p.T204Mc.611C>TSubstitution - Missense
MYBPC2ENSG00000086967ENST00000357701p.E431Qc.1291G>CSubstitution - Missense
OSBPL9ENSG00000117859ENST00000447887p.S108Gc.322A>GSubstitution - Missense
DSPPENSG00000152591ENST00000399271p.G123Ac.368G>CSubstitution - Missense
GATSL3ENSG00000239282ENST00000407689p.H168Rc.503A>GSubstitution - Missense
RAPH1ENSG00000173166ENST00000308091p.N501Nc.1503C>TSubstitution - coding silent
DGKDENSG00000077044ENST00000264057p.S529Sc.1587G>ASubstitution - coding silent
SLC35A3ENSG00000117620ENST00000370153p.?c.880-10A>TUnknown
C5orf64ENSG00000178722ENST00000505642p.M30Tc.89T>CSubstitution - Missense
SFTPA2ENSG00000185303ENST00000372325p.A15Ac.45C>TSubstitution - coding silent
C1QBENSG00000173369ENST00000314933p.H144Hc.432C>TSubstitution - coding silent
VEZTENSG00000028203ENST00000261219p.A336Dc.1007C>ASubstitution - Missense
TRIM36ENSG00000152503ENST00000282369p.?c.1122-8G>TUnknown
GPR142ENSG00000257008ENST00000335666p.H143Hc.429C>TSubstitution - coding silent
SLC35A4ENSG00000176087ENST00000323146p.A175Vc.524C>TSubstitution - Missense
KLHL4ENSG00000102271ENST00000373114p.V622Lc.1864G>TSubstitution - Missense
OR10G9ENSG00000236981ENST00000375024p.D201Dc.603C>TSubstitution - coding silent
C5orf28ENSG00000151881ENST00000500337p.S140Lc.419C>TSubstitution - Missense
PEAK1ENSG00000173517ENST00000312493p.S1075*c.3224C>ASubstitution - Nonsense
PEAK1ENSG00000173517ENST00000312493p.S1075Tc.3223T>ASubstitution - Missense
TRPM2ENSG00000142185ENST00000397928p.A343Tc.1027G>ASubstitution - Missense
TPRENSG00000047410ENST00000367478p.D1926Nc.5776G>ASubstitution - Missense
BRCA2ENSG00000139618ENST00000544455p.K1690Nc.5070A>CSubstitution - Missense
TEKENSG00000120156ENST00000380036p.Q696Hc.2088G>CSubstitution - Missense
TRIB2ENSG00000071575ENST00000155926p.S28Lc.83C>TSubstitution - Missense
MRPL19ENSG00000115364ENST00000393909p.V119Ic.355G>ASubstitution - Missense
RFPL3ENSG00000128276ENST00000397468p.P79Lc.236C>TSubstitution - Missense
RBM18ENSG00000119446ENST00000417201p.?c.113+9A>GUnknown
RABGAP1ENSG00000011454ENST00000373647p.V759Vc.2277C>TSubstitution - coding silent
WFDC6ENSG00000243543ENST00000600168p.P32Lc.95C>TSubstitution - Missense
AF395440.1p.A58Ac.174C>TSubstitution - coding silent
RRBP1ENSG00000125844ENST00000360807p.E851Kc.2551G>ASubstitution - Missense
ENST00000314657p.T33Ic.98C>TSubstitution - Missense
NM_012197.2p.V687Vc.2061C>TSubstitution - coding silent
PYHIN1ENSG00000163564ENST00000392254p.V355Ac.1064T>CSubstitution - Missense
IMP3ENSG00000177971ENST00000314852p.D17Dc.51C>TSubstitution - coding silent
OR2C3ENSG00000196242ENST00000366487p.L167Lc.499C>TSubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.S1917Pc.5749T>CSubstitution - Missense
BLMENSG00000197299ENST00000355112p.I243Vc.727A>GSubstitution - Missense
SCYL1ENSG00000142186ENST00000270176p.H392Hc.1176C>TSubstitution - coding silent
CYP11B1ENSG00000160882ENST00000292427p.S233Pc.697T>CSubstitution - Missense
HYAL2ENSG00000068001ENST00000395139p.E436Kc.1306G>ASubstitution - Missense
SLC4A3ENSG00000114923ENST00000273063p.K246_S247insRLAGEKc.721_722ins18Insertion - In frame
LFNGENSG00000106003ENST00000402506p.L234fs*34c.696_697insCInsertion - Frameshift
ENST00000234388p.S232Lc.695C>TSubstitution - Missense
PCDHB16ENSG00000196963ENST00000361016p.P492Lc.1475C>TSubstitution - Missense
PCDHB10ENSG00000120324ENST00000239446p.P492Lc.1475C>TSubstitution - Missense
SLC12A2ENSG00000064651ENST00000262461p.D248Ec.744C>GSubstitution - Missense
CD109ENSG00000156535ENST00000287097p.L1437Lc.4311T>CSubstitution - coding silent
POMGNT2ENSG00000144647ENST00000344697p.R486Qc.1457G>ASubstitution - Missense
IMP4ENSG00000136718ENST00000259239p.L176Mc.526C>ASubstitution - Missense
OR10G9ENSG00000236981ENST00000375024p.D201Nc.601G>ASubstitution - Missense
BPIFA3ENSG00000131059ENST00000375454p.S170Gc.508A>GSubstitution - Missense
FAM117BENSG00000138439ENST00000303116p.E18Dc.54A>CSubstitution - Missense
MSL2ENSG00000174579ENST00000309993p.E436Vc.1307A>TSubstitution - Missense
ZNF100ENSG00000197020ENST00000358296p.T80Sc.238A>TSubstitution - Missense
TENM3ENSG00000218336ENST00000511685p.A1469Vc.4406C>TSubstitution - Missense
EXOSC1ENSG00000171311ENST00000370902p.E191Kc.571G>ASubstitution - Missense
ENST00000166139_v68p.V37Gc.110T>GSubstitution - Missense
ABI3ENSG00000108798ENST00000225941p.D343fs*>25c.1027_1028insGInsertion - Frameshift
CECR2ENSG00000099954ENST00000262608p.T1425Pc.4273A>CSubstitution - Missense
ZNF256ENSG00000152454ENST00000282308p.H362fs*3c.1086_1087delTADeletion - Frameshift
TMEM8AENSG00000129925ENST00000431232p.T186Tc.558G>ASubstitution - coding silent
EMC8ENSG00000131148ENST00000253457p.H17Rc.50A>GSubstitution - Missense
SPAG1ENSG00000104450ENST00000388798p.G362Sc.1084G>ASubstitution - Missense
LRBAENSG00000198589ENST00000357115p.H1830Rc.5489A>GSubstitution - Missense
ENSG00000272333ENST00000222270p.K369Kc.1107A>GSubstitution - coding silent
ZER1ENSG00000160445ENST00000291900p.D626Nc.1876G>ASubstitution - Missense
INTS5ENSG00000185085ENST00000330574p.S669Lc.2006C>TSubstitution - Missense
RAB3IL1ENSG00000167994ENST00000394836p.R65Hc.194G>ASubstitution - Missense
LOXL1ENSG00000129038ENST00000261921p.T524Tc.1572C>TSubstitution - coding silent
SU_NEK5p.M701Tc.2102T>CSubstitution - Missense
IDH1ENSG00000138413ENST00000345146p.R132Cc.394C>TSubstitution - Missense
MRPS35ENSG00000061794ENST00000081029p.P116Rc.347C>GSubstitution - Missense
SPG7ENSG00000197912ENST00000268704p.P350Tc.1048C>ASubstitution - Missense
ENST00000319379p.S4803Sc.14409T>CSubstitution - coding silent
PCDH12ENSG00000113555ENST00000231484p.P259Rc.776C>GSubstitution - Missense
LCTENSG00000115850ENST00000264162p.E1263Qc.3787G>CSubstitution - Missense
TUBB2BENSG00000137285ENST00000259818p.?c.57+305_1095>GAUnknown
OR11G2ENSG00000196832ENST00000357366p.F191Lc.573C>GSubstitution - Missense
SZRD1ENSG00000055070ENST00000401088p.Q31Ec.91C>GSubstitution - Missense
GPATCH1ENSG00000076650ENST00000170564p.R585Qc.1754G>ASubstitution - Missense
ZSCAN9ENSG00000137185ENST00000252207p.A47Tc.139G>ASubstitution - Missense
ASZ1ENSG00000154438ENST00000284629p.M154Vc.460A>GSubstitution - Missense
SLC6A18ENSG00000164363ENST00000324642p.W598*c.1794G>ASubstitution - Nonsense
TUBGCP6ENSG00000128159ENST00000248846p.H1055Hc.3165C>TSubstitution - coding silent
ZNF100ENSG00000197020ENST00000358296p.L79Lc.237C>TSubstitution - coding silent
CCDC51ENSG00000164051ENST00000395694p.R194Cc.580C>TSubstitution - Missense
NUMA1ENSG00000137497ENST00000393695p.T1345Sc.4034C>GSubstitution - Missense
SIPA1L2ENSG00000116991ENST00000366630p.P149Sc.445C>TSubstitution - Missense
OPN4ENSG00000122375ENST00000372071p.A193Vc.578C>TSubstitution - Missense
MST1ENSG00000173531ENST00000449682p.Q406_R407delQRc.1216_1221delCAGCGCDeletion - In frame
BRCA2ENSG00000139618ENST00000380152p.K1690Nc.5070A>CSubstitution - Missense
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
ABCA7ENSG00000064687ENST00000263094p.D830Nc.2488G>ASubstitution - Missense
EDC4ENSG00000038358ENST00000358933p.R1003Qc.3008G>ASubstitution - Missense
ENST00000335500p.P743Sc.2227C>TSubstitution - Missense
ATL2ENSG00000119787ENST00000419554p.R322Qc.965G>ASubstitution - Missense
NME8ENSG00000086288ENST00000199447p.Q76Kc.226C>ASubstitution - Missense
SPATA31E1ENSG00000177992ENST00000325643p.T453Sc.1357A>TSubstitution - Missense
HAVCR2ENSG00000135077ENST00000307851p.N270Nc.810C>TSubstitution - coding silent
CCDC69ENSG00000198624ENST00000355417p.S9Cc.25A>TSubstitution - Missense
MTMR1ENSG00000063601ENST00000370390p.R650Rc.1950G>CSubstitution - coding silent
ABCA13ENSG00000179869ENST00000435803p.S4858Sc.14574T>CSubstitution - coding silent
SLC5A11ENSG00000158865ENST00000347898p.G469Gc.1407A>GSubstitution - coding silent
ANGPT1ENSG00000154188ENST00000297450p.T94Ic.281C>TSubstitution - Missense
NM_133170.2p.H1273Dc.3817C>GSubstitution - Missense
MBD5ENSG00000204406ENST00000407073p.R200Qc.599G>ASubstitution - Missense
JPH2ENSG00000149596ENST00000372980p.E632Dc.1896G>CSubstitution - Missense
KLHL38ENSG00000175946ENST00000325995p.T84fs*19c.248_249insCInsertion - Frameshift
TOR1AENSG00000136827ENST00000351698p.A209Ac.627T>CSubstitution - coding silent
ZER1ENSG00000160445ENST00000291900p.?c.1576-2_1582delagACCATGCUnknown
CDC20BENSG00000164287ENST00000296733p.?c.697+9T>CUnknown
HTR1AENSG00000178394ENST00000323865p.G382Gc.1146C>TSubstitution - coding silent
OPN4ENSG00000122375ENST00000443292p.A193Vc.578C>TSubstitution - Missense
PPP3CBENSG00000107758ENST00000394822p.S198Sc.594G>ASubstitution - coding silent
STX5ENSG00000162236ENST00000377897p.Q141Kc.421C>ASubstitution - Missense
HBG1ENSG00000213934ENST00000330597p.T113Tc.339C>TSubstitution - coding silent
HBG2ENSG00000196565ENST00000380259p.T113Tc.339C>TSubstitution - coding silent
KCNQ1ENSG00000053918ENST00000335475p.D455Dc.1365T>CSubstitution - coding silent
OR10G9ENSG00000236981ENST00000375024p.S146Gc.436A>GSubstitution - Missense
GPR161ENSG00000143147ENST00000546300p.E406*c.1216G>TSubstitution - Nonsense
KRT80ENSG00000167767ENST00000313234p.V405Ac.1214T>CSubstitution - Missense
CEP152ENSG00000103995ENST00000380950p.I420Fc.1258A>TSubstitution - Missense
ESR2ENSG00000140009ENST00000357782p.A416Ac.1248G>CSubstitution - coding silent
SLX4ENSG00000188827ENST00000294008p.E179Dc.537G>TSubstitution - Missense
TBC1D8ENSG00000204634ENST00000376840p.T884Mc.2651C>TSubstitution - Missense
TBC1D8ENSG00000204634ENST00000409318p.T899Mc.2696C>TSubstitution - Missense
SONENSG00000159140ENST00000290239p.Y1020Yc.3060T>CSubstitution - coding silent
PTPRTENSG00000196090ENST00000373184p.H1261Dc.3781C>GSubstitution - Missense
ATL2ENSG00000119787ENST00000378954p.R322Qc.965G>ASubstitution - Missense
HFEENSG00000010704ENST00000470149p.G200Gc.600T>CSubstitution - coding silent
CDC20BENSG00000164287ENST00000322374p.?c.697+9T>CUnknown
CDC20BENSG00000164287ENST00000334206p.?c.697+9T>CUnknown
TPP2ENSG00000134900ENST00000376065p.K1018Nc.3054A>CSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.R1918fs*76c.5752delCDeletion - Frameshift
MYO1AENSG00000166866ENST00000300119p.A509Vc.1526C>TSubstitution - Missense
NEK5ENSG00000197168ENST00000355568p.M669Tc.2006T>CSubstitution - Missense
TBC1D2ENSG00000095383ENST00000375066p.K577Nc.1731G>CSubstitution - Missense
LFNGENSG00000106003ENST00000402045p.L176fs*34c.522_523insCInsertion - Frameshift
DNAH6ENSG00000115423ENST00000237449p.Q2423Lc.7268A>TSubstitution - Missense
NFATC3ENSG00000072736ENST00000329524p.C683Wc.2049C>GSubstitution - Missense
NXPE3ENSG00000144815ENST00000273347p.D91Ec.273T>ASubstitution - Missense
TBX6ENSG00000149922ENST00000395224p.A284Tc.850G>ASubstitution - Missense
CCNYENSG00000108100ENST00000374704p.R307Cc.919C>TSubstitution - Missense
WFS1ENSG00000109501ENST00000226760p.T464Tc.1392C>TSubstitution - coding silent
KMT2CENSG00000055609ENST00000355193p.L3332*c.9995T>ASubstitution - Nonsense
KMT2CENSG00000055609ENST00000262189p.L3332*c.9995T>ASubstitution - Nonsense
RRBP1ENSG00000125844ENST00000377813p.E1284Kc.3850G>ASubstitution - Missense
BAIAP3ENSG00000007516ENST00000397488p.R1046fs*7c.3137delGDeletion - Frameshift
ESR2ENSG00000140009ENST00000554572p.A416Ac.1248G>CSubstitution - coding silent
ATP8B2ENSG00000143515ENST00000368489p.V178Vc.534G>ASubstitution - coding silent
SPAG17ENSG00000155761ENST00000336338p.F1869Fc.5607T>CSubstitution - coding silent
LILRB4ENSG00000186818ENST00000391736p.D388Gc.1163A>GSubstitution - Missense
ENST00000331986p.F5965Lc.17895C>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T2461Rc.7382C>GSubstitution - Missense
PCDHB15ENSG00000113248ENST00000231173p.D410Nc.1228G>ASubstitution - Missense
ODF3L2ENSG00000181781ENST00000315489p.T270Nc.809C>ASubstitution - Missense
PCDHA5ENSG00000204965ENST00000529619p.A445Tc.1333G>ASubstitution - Missense
ESR2ENSG00000140009ENST00000557772p.A416Ac.1248G>CSubstitution - coding silent
ENST00000356127p.P4401Lc.13202C>TSubstitution - Missense
DTD1ENSG00000125821ENST00000377452p.R207fs?c.620_627GGGAGCCG>TComplex - frameshift
SNPHENSG00000101298ENST00000381873p.P72Pc.216G>ASubstitution - coding silent
SNPHENSG00000101298ENST00000381867p.P116Pc.348G>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.T808Ic.2423C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T808Ic.2423C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T2461Rc.7382C>GSubstitution - Missense
CT47B1ENSG00000236446ENST00000371311p.E59*c.175G>TSubstitution - Nonsense
PTCH1ENSG00000185920ENST00000331920p.E380*c.1138G>TSubstitution - Nonsense
PTCH1ENSG00000185920ENST00000331920p.E380*c.1138G>TSubstitution - Nonsense
PTCH1ENSG00000185920ENST00000375274p.E379*c.1135G>TSubstitution - Nonsense
TIMM44ENSG00000104980ENST00000270538p.W438*c.1313G>ASubstitution - Nonsense
GPR108ENSG00000125734ENST00000264080p.?c.1351-2A>GUnknown
C19orf40ENSG00000131944ENST00000254262p.R78Wc.232C>TSubstitution - Missense
LSM14BENSG00000149657ENST00000279068p.F318Fc.954C>TSubstitution - coding silent
TBC1D2ENSG00000095383ENST00000375063p.K117Nc.351G>CSubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.P2088Tc.6262C>ASubstitution - Missense
OSBPL1AENSG00000141447ENST00000319481p.I549Vc.1645A>GSubstitution - Missense
SMG6ENSG00000070366ENST00000263073p.M1163Tc.3488T>CSubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.?c.2093-8A>TUnknown
KDM3AENSG00000115548ENST00000409556p.?c.2093-8A>TUnknown
COL6A2ENSG00000142173ENST00000300527p.P932Pc.2796G>ASubstitution - coding silent
SONENSG00000159140ENST00000356577p.Y1020Yc.3060T>CSubstitution - coding silent
SONENSG00000159140ENST00000300278p.Y1020Yc.3060T>CSubstitution - coding silent
HFEENSG00000010704ENST00000357618p.G200Gc.600T>CSubstitution - coding silent
TLR9ENSG00000239732ENST00000360658p.R601Qc.1802G>ASubstitution - Missense
HNF4GENSG00000164749ENST00000396423p.N166Nc.498C>TSubstitution - coding silent
NM_004133.3p.N129Nc.387C>TSubstitution - coding silent
NLRP2ENSG00000022556ENST00000543010p.T516Ac.1546A>GSubstitution - Missense
PER2ENSG00000132326ENST00000254657p.P9Lc.26C>TSubstitution - Missense
RAPH1ENSG00000173166ENST00000319170p.N449Nc.1347C>TSubstitution - coding silent
FAM117BENSG00000138439ENST00000392238p.E262Dc.786A>CSubstitution - Missense
ENST00000407030p.?c.624+5delgUnknown
SPG7ENSG00000197912ENST00000341316p.P350Tc.1048C>ASubstitution - Missense
RFPL3ENSG00000128276ENST00000249007p.P108Lc.323C>TSubstitution - Missense
TADA3ENSG00000171148ENST00000301964p.A401_R406>Vc.1202_1217>TComplex - deletion inframe
CCDC22ENSG00000101997ENST00000376227p.D586Ec.1758C>ASubstitution - Missense
CCDC22ENSG00000101997ENST00000376227p.D586Ec.1758C>ASubstitution - Missense
TGFBRAP1ENSG00000135966ENST00000258449p.E419Vc.1256A>TSubstitution - Missense
NFATC3ENSG00000072736ENST00000346183p.C683Wc.2049C>GSubstitution - Missense
TRIM36ENSG00000152503ENST00000282369p.?c.1122-8G>TUnknown
MLH1ENSG00000076242ENST00000231790p.I655Tc.1964T>CSubstitution - Missense
REG1AENSG00000115386ENST00000233735p.S143Nc.428G>ASubstitution - Missense
PRDM9ENSG00000164256ENST00000296682p.H762Lc.2285A>TSubstitution - Missense
MAEAENSG00000090316ENST00000303400p.E55Qc.163G>CSubstitution - Missense
PLK4ENSG00000142731ENST00000270861p.Q901Qc.2703G>ASubstitution - coding silent
LFNGENSG00000106003ENST00000222725p.L305fs*34c.909_910insCInsertion - Frameshift
IGF2RENSG00000197081ENST00000356956p.I1908Vc.5722A>GSubstitution - Missense
MTRF1LENSG00000112031ENST00000367233p.G352Ec.1055G>ASubstitution - Missense
MYO7BENSG00000169994ENST00000428314p.V1888Vc.5664G>ASubstitution - coding silent
PVRL2ENSG00000130202ENST00000252483p.T280Sc.839C>GSubstitution - Missense
PVRL2ENSG00000130202ENST00000252485p.T280Sc.839C>GSubstitution - Missense
ZNF100ENSG00000197020ENST00000358296p.L79Vc.235C>GSubstitution - Missense
CCNT2ENSG00000082258ENST00000264157p.V268Gc.803T>GSubstitution - Missense
HSD3B7ENSG00000099377ENST00000297679p.?c.695-5G>AUnknown
MAZENSG00000103495ENST00000219782p.C339Cc.1017C>TSubstitution - coding silent
ARHGAP10ENSG00000071205ENST00000336498p.A721Ac.2163G>ASubstitution - coding silent
HHIPENSG00000164161ENST00000296575p.S540Rc.1620T>GSubstitution - Missense
CLSTN2ENSG00000158258ENST00000458420p.T203Rc.608C>GSubstitution - Missense
ENST00000382965p.Q19Pc.56A>CSubstitution - Missense
KLHL4ENSG00000102271ENST00000373119p.V622Lc.1864G>TSubstitution - Missense
APOL1ENSG00000100342ENST00000440669p.P79Sc.235C>TSubstitution - Missense
C9orf84ENSG00000165181ENST00000374287p.L1337Pc.4010T>CSubstitution - Missense
C9orf84ENSG00000165181ENST00000394779p.L1298Pc.3893T>CSubstitution - Missense
PLXNB1ENSG00000164050ENST00000296440p.D1819Dc.5457C>TSubstitution - coding silent
KDRENSG00000128052ENST00000263923p.?c.798+6G>AUnknown
PAN2ENSG00000135473ENST00000440411p.N608Nc.1824T>CSubstitution - coding silent
SMARCC2ENSG00000139613ENST00000267064p.L1159Lc.3477C>TSubstitution - coding silent
SMARCC2ENSG00000139613ENST00000267064p.L1159Lc.3477C>TSubstitution - coding silent
VWA8ENSG00000102763ENST00000379310p.K1334Nc.4002A>CSubstitution - Missense
SCAPERENSG00000140386ENST00000324767p.E455Ec.1365A>GSubstitution - coding silent
PPP3CBENSG00000107758ENST00000360663p.S180Sc.540G>ASubstitution - coding silent
MTPAPENSG00000107951ENST00000358107p.D97Nc.289G>ASubstitution - Missense
SLC35A3ENSG00000117620ENST00000370155p.?c.754-10A>TUnknown
NUP98ENSG00000110713ENST00000324932p.?c.4167+2T>CUnknown
IFIT1ENSG00000185745ENST00000371804p.E15Qc.43G>CSubstitution - Missense
PLEKHG6ENSG00000008323ENST00000011684p.R28Qc.83G>ASubstitution - Missense
NACAENSG00000196531ENST00000454682p.G306Gc.918C>TSubstitution - coding silent
ENST00000368148p.V1763Gc.5288T>GSubstitution - Missense
IQGAP3ENSG00000183856ENST00000361170p.K314Kc.942G>ASubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.R2188fs*76c.6562delCDeletion - Frameshift
KRT80ENSG00000167767ENST00000394815p.V405Ac.1214T>CSubstitution - Missense
VEZTENSG00000028203ENST00000436874p.A384Dc.1151C>ASubstitution - Missense
VEZTENSG00000028203ENST00000436874p.A384Dc.1151C>ASubstitution - Missense
PCENSG00000173599ENST00000393955p.R393Cc.1177C>TSubstitution - Missense
PCENSG00000173599ENST00000355677p.R393Cc.1177C>TSubstitution - Missense
STX5ENSG00000162236ENST00000294179p.Q141Kc.421C>ASubstitution - Missense
ATP13A2ENSG00000159363ENST00000326735p.R1072Hc.3215G>ASubstitution - Missense
BLZF1ENSG00000117475ENST00000367808p.L311Lc.933G>ASubstitution - coding silent
FREM2ENSG00000150893ENST00000280481p.D2155Dc.6465T>CSubstitution - coding silent
EPHA2ENSG00000142627ENST00000358432p.G75fs*87c.224delGDeletion - Frameshift
NPAP1ENSG00000185823ENST00000329468p.N698Sc.2093A>GSubstitution - Missense
TFAP2EENSG00000116819ENST00000373235p.G209Dc.626G>ASubstitution - Missense
MEGF6ENSG00000162591ENST00000356575p.G209Gc.627C>ASubstitution - coding silent
CACNA1EENSG00000198216ENST00000367570p.F70Lc.208T>CSubstitution - Missense
KIAA1614ENSG00000135835ENST00000367588p.D196Gc.587A>GSubstitution - Missense
MMP1ENSG00000196611ENST00000315274p.N43Sc.128A>GSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.S1917Pc.5749T>CSubstitution - Missense
USP28ENSG00000048028ENST00000003302p.E380*c.1138G>TSubstitution - Nonsense
KCNQ1ENSG00000053918ENST00000155840p.D582Dc.1746T>CSubstitution - coding silent
RPL3LENSG00000140986ENST00000268661p.S68Yc.203C>ASubstitution - Missense
SCYL1ENSG00000142186ENST00000270176p.H392Hc.1176C>TSubstitution - coding silent
NRXN2ENSG00000110076ENST00000377551p.L882Lc.2646G>CSubstitution - coding silent
SLC22A9ENSG00000149742ENST00000279178p.G295Dc.884G>ASubstitution - Missense
C1orf167ENSG00000215910ENST00000433342p.G585Gc.1755C>GSubstitution - coding silent
TIE1ENSG00000066056ENST00000372476p.R910Gc.2728C>GSubstitution - Missense
OSBPL9ENSG00000117859ENST00000447887p.S108Gc.322A>GSubstitution - Missense
GPR161ENSG00000143147ENST00000367835p.E520*c.1558G>TSubstitution - Nonsense
GPR161ENSG00000143147ENST00000537209p.E540*c.1618G>TSubstitution - Nonsense
HRNRENSG00000197915ENST00000368801p.Q709Ec.2125C>GSubstitution - Missense
FAM227BENSG00000166262ENST00000299338p.P424Pc.1272A>GSubstitution - coding silent
CEP152ENSG00000103995ENST00000399334p.I420Fc.1258A>TSubstitution - Missense
SLC26A9ENSG00000174502ENST00000367134p.Q3Ec.7C>GSubstitution - Missense
SLC26A9ENSG00000174502ENST00000367135p.Q3Ec.7C>GSubstitution - Missense
IGFN1ENSG00000163395ENST00000335211p.R366Wc.1096C>TSubstitution - Missense
PGBD2ENSG00000185220ENST00000329291p.I216Vc.646A>GSubstitution - Missense
OR2T10ENSG00000184022ENST00000330500p.T212Kc.635C>ASubstitution - Missense
OR14C36ENSG00000177174ENST00000317861p.G39Ec.116G>ASubstitution - Missense
ESR2ENSG00000140009ENST00000341099p.A416Ac.1248G>CSubstitution - coding silent
ENST00000599516p.R86Wc.256C>TSubstitution - Missense
CA12ENSG00000074410ENST00000178638p.?c.85+10C>AUnknown
DLL4ENSG00000128917ENST00000249749p.R424Sc.1270C>ASubstitution - Missense
GRK1ENSG00000185974ENST00000335678p.K228Kc.684G>ASubstitution - coding silent
ALOX15ENSG00000161905ENST00000570836p.S350fs*1c.1049_1050delCTDeletion - Frameshift
ALOX15ENSG00000161905ENST00000545513p.S372fs*1c.1115_1116delCTDeletion - Frameshift
TLDC1ENSG00000140950ENST00000343629p.?c.1078-1G>CUnknown
CMIPENSG00000153815ENST00000539778p.N51Sc.152A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.P4401Lc.13202C>TSubstitution - 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