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LB771-HNC - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

333 mutations reported
80 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
C1orf173ENSG00000178965ENST00000326665p.Q85Rc.254A>GSubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.T2186Tc.6558A>GSubstitution - coding silent
ENST00000405167p.G2412Sc.7234G>ASubstitution - Missense
TRIOBPENSG00000100106ENST00000406386p.N664Kc.1992C>ASubstitution - Missense
DERL2ENSG00000072849ENST00000158771p.R18Rc.54C>TSubstitution - coding silent
ENST00000502505_v68p.G113Rc.337G>CSubstitution - Missense
MYT1LENSG00000186487ENST00000428368p.I1070Vc.3208A>GSubstitution - Missense
EYA1ENSG00000104313ENST00000388742p.T112Tc.336A>GSubstitution - coding silent
SLITRK1ENSG00000178235ENST00000377084p.E77Kc.229G>ASubstitution - Missense
SLCO1B1ENSG00000134538ENST00000256958p.E17Qc.49G>CSubstitution - Missense
PRAMEF2ENSG00000120952ENST00000240189p.S24Ac.70T>GSubstitution - Missense
FSIP2ENSG00000188738ENST00000343098p.G165Vc.494G>TSubstitution - Missense
WNK2ENSG00000165238ENST00000297954p.P926Rc.2777C>GSubstitution - Missense
WDR44ENSG00000131725ENST00000254029p.S96Cc.286A>TSubstitution - Missense
RIPK4ENSG00000183421ENST00000332512p.G681Ec.2042G>ASubstitution - Missense
SLC16A14ENSG00000163053ENST00000295190p.G98Gc.294G>CSubstitution - coding silent
NCK1ENSG00000158092ENST00000288986p.N26Yc.76A>TSubstitution - Missense
GATAD2AENSG00000167491ENST00000360315p.P93Lc.278C>TSubstitution - Missense
SNX25ENSG00000109762ENST00000504273p.K589Tc.1766A>CSubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.R3114Tc.9341G>CSubstitution - Missense
HNRNPKENSG00000165119ENST00000376281p.S141Tc.422G>CSubstitution - Missense
ENST00000502505_v70p.G113Rc.337G>CSubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.A1776Gc.5327C>GSubstitution - Missense
SSBENSG00000138385ENST00000260956p.H373Hc.1119T>CSubstitution - coding silent
NNTENSG00000112992ENST00000264663p.A73Vc.218C>TSubstitution - Missense
MBD1ENSG00000141644ENST00000457839p.A293Pc.877G>CSubstitution - Missense
ENST00000221482p.?c.2544+5G>TUnknown
ENST00000314855p.D39Nc.115G>ASubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.D1635Hc.4903G>CSubstitution - Missense
PCNXENSG00000100731ENST00000304743p.R2275Gc.6823C>GSubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.Q815Kc.2443C>ASubstitution - Missense
ANKRD36ENSG00000135976ENST00000461153p.T497Sc.1490C>GSubstitution - Missense
PALM2ENSG00000243444ENST00000374531p.V188Lc.562G>TSubstitution - Missense
SIPA1L3ENSG00000105738ENST00000222345p.G1394Gc.4182C>GSubstitution - coding silent
APBB3ENSG00000113108ENST00000354402p.P136fs*37c.406_407insACInsertion - Frameshift
HLA-EENSG00000204592ENST00000376630p.Q276Hc.828G>CSubstitution - Missense
KIAA1211ENSG00000109265ENST00000264229p.T599Tc.1797G>ASubstitution - coding silent
OVOL2ENSG00000125850ENST00000278780p.T222Ac.664A>GSubstitution - Missense
GON4LENSG00000116580ENST00000361040p.E899Vc.2696A>TSubstitution - Missense
C19orf38ENSG00000214212ENST00000397820p.?c.31+7C>TUnknown
NM_004260.1p.?c.333_1018del971Unknown
PCDH7ENSG00000169851ENST00000361762p.S798Ic.2393G>TSubstitution - Missense
DRAXINENSG00000162490ENST00000294485p.A197Ac.591A>CSubstitution - coding silent
WNK2ENSG00000165238ENST00000395477p.P926Rc.2777C>GSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.H179Rc.536A>GSubstitution - Missense
FAM109AENSG00000198324ENST00000361483p.G147Gc.441T>GSubstitution - coding silent
FSHBENSG00000131808ENST00000254122p.H87Nc.259C>ASubstitution - Missense
GON4LENSG00000116580ENST00000437809p.E899Vc.2696A>TSubstitution - Missense
C2CD4BENSG00000205502ENST00000380392p.A284Ac.852C>TSubstitution - coding silent
OR2T34ENSG00000183310ENST00000328782p.W154*c.462G>ASubstitution - Nonsense
KLK4ENSG00000167749ENST00000324041p.V173Lc.517G>CSubstitution - Missense
RIPK4ENSG00000183421ENST00000352483p.G729Ec.2186G>ASubstitution - Missense
NFE2L3ENSG00000050344ENST00000056233p.P331Ac.991C>GSubstitution - Missense
KIAA1586ENSG00000168116ENST00000370733p.E320Ec.960G>ASubstitution - coding silent
NFATC2ENSG00000101096ENST00000371564p.N657Kc.1971C>GSubstitution - Missense
LPPENSG00000145012ENST00000312675p.W326*c.978G>ASubstitution - Nonsense
COL27A1ENSG00000196739ENST00000356083p.P1645Pc.4935A>GSubstitution - coding silent
SPATC1LENSG00000160284ENST00000330205p.P59Pc.177G>TSubstitution - coding silent
EP300ENSG00000100393ENST00000263253p.P1452Lc.4355C>TSubstitution - Missense
BEX5ENSG00000184515ENST00000543160p.E74Dc.222G>TSubstitution - Missense
EYA1ENSG00000104313ENST00000388740p.T79Tc.237A>GSubstitution - coding silent
CUX2ENSG00000111249ENST00000261726p.G752Rc.2254G>ASubstitution - Missense
CDKAL1ENSG00000145996ENST00000378610p.V408Lc.1222G>CSubstitution - Missense
SLC37A3ENSG00000157800ENST00000340308p.S422Cc.1265C>GSubstitution - Missense
DLX5ENSG00000105880ENST00000222598p.M1Tc.2T>CSubstitution - Missense
TAS2R1ENSG00000169777ENST00000382492p.I88Kc.263T>ASubstitution - Missense
LYPD5ENSG00000159871ENST00000377950p.V177Ic.529G>ASubstitution - Missense
MBD1ENSG00000141644ENST00000339998p.A268Pc.802G>CSubstitution - Missense
PIGNENSG00000197563ENST00000357637p.L349Vc.1045C>GSubstitution - Missense
SLITRK1ENSG00000178235ENST00000377084p.T588fs*2c.1761delCDeletion - Frameshift
ZMIZ1ENSG00000108175ENST00000334512p.G343Vc.1028G>TSubstitution - Missense
FNDC1ENSG00000164694ENST00000297267p.T732Pc.2194A>CSubstitution - Missense
ENSG00000249034ENST00000502505p.G113Rc.337G>CSubstitution - Missense
EDA2RENSG00000131080ENST00000450752p.E7Qc.19G>CSubstitution - Missense
PRAMEF2ENSG00000120952ENST00000240189p.A27Ac.81C>TSubstitution - coding silent
NBEAL1ENSG00000144426ENST00000449802p.?c.7847+8A>GUnknown
MUC4ENSG00000145113ENST00000463781p.L1873Vc.5617C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.G2412Sc.7234G>ASubstitution - Missense
ZSCAN4ENSG00000180532ENST00000318203p.E36Qc.106G>CSubstitution - Missense
TXLNBENSG00000164440ENST00000358430p.D34Hc.100G>CSubstitution - Missense
ATP13A1ENSG00000105726ENST00000357324p.F252Fc.756C>TSubstitution - coding silent
GRAMD1CENSG00000178075ENST00000358160p.K153Nc.459G>CSubstitution - Missense
EID2BENSG00000176401ENST00000326282p.L150Qc.449T>ASubstitution - Missense
COL27A1ENSG00000196739ENST00000356083p.G868Ac.2603G>CSubstitution - Missense
ATP13A1ENSG00000105726ENST00000291503p.F134Fc.402C>TSubstitution - coding silent
ENST00000391816p.H175Pc.524A>CSubstitution - Missense
KIAA1109ENSG00000138688ENST00000455637p.K2170Ec.6508A>GSubstitution - Missense
NM_006343p.A708Sc.2122G>TSubstitution - Missense
KLHL1ENSG00000150361ENST00000377844p.D700Gc.2099A>GSubstitution - Missense
ENSG00000167765ENST00000301439p.T169Pc.505A>CSubstitution - Missense
KLHDC3ENSG00000124702ENST00000326974p.G307Wc.919G>TSubstitution - Missense
ENST00000275579p.R219Sc.655C>ASubstitution - Missense
NCOA4ENSG00000138293ENST00000374082p.I563Vc.1687A>GSubstitution - Missense
MPHOSPH9ENSG00000051825ENST00000302349p.T617_T626del10c.1848_1877del30Deletion - In frame
GDAP1L1ENSG00000124194ENST00000342560p.A30Pc.88G>CSubstitution - Missense
GRM3ENSG00000198822ENST00000394720p.T439Tc.1317G>CSubstitution - coding silent
ADAMTS8ENSG00000134917ENST00000257359p.P308Qc.923C>ASubstitution - Missense
PIEZO1ENSG00000103335ENST00000301015p.N2145Kc.6435C>ASubstitution - Missense
CELSR1ENSG00000075275ENST00000262738p.T1855Ic.5564C>TSubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.G3126*c.9376G>TSubstitution - Nonsense
CEP85LENSG00000111860ENST00000368491p.Q282Kc.844C>ASubstitution - Missense
SEPT14ENSG00000154997ENST00000388975p.R430Sc.1288C>ASubstitution - Missense
ZNF180ENSG00000167384ENST00000221327p.A3Gc.8C>GSubstitution - Missense
ARFGEF1ENSG00000066777ENST00000262215p.E1374Dc.4122A>TSubstitution - Missense
ACTA1ENSG00000143632ENST00000366684p.G247Wc.739G>TSubstitution - Missense
DIP2BENSG00000066084ENST00000301180p.I277Ic.831C>TSubstitution - coding silent
PRAMEF2ENSG00000120952ENST00000240189p.M28Vc.82A>GSubstitution - Missense
CCNIENSG00000118816ENST00000237654p.W51Cc.153G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.V23232Ac.69695T>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.V16927Ac.50780T>CSubstitution - Missense
CASP8ENSG00000064012ENST00000264275p.?c.402-2A>TUnknown
KIAA1109ENSG00000138688ENST00000264501p.K2170Ec.6508A>GSubstitution - Missense
SLC16A14ENSG00000163053ENST00000295190p.R100Rc.300C>GSubstitution - coding silent
VASPENSG00000125753ENST00000245932p.R48Cc.142C>TSubstitution - Missense
CEP85LENSG00000111860ENST00000368488p.Q285Kc.853C>ASubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.A1776Gc.5327C>GSubstitution - Missense
DDX1ENSG00000079785ENST00000381341p.Q332Ec.994C>GSubstitution - Missense
BCL9ENSG00000116128ENST00000234739p.P600Qc.1799C>ASubstitution - Missense
GON4LENSG00000116580ENST00000437809p.E899Vc.2696A>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.I4623Vc.13867A>GSubstitution - Missense
SPG11ENSG00000104133ENST00000558319p.A1570Tc.4708G>ASubstitution - Missense
VPS39ENSG00000166887ENST00000348544p.D215Vc.644A>TSubstitution - Missense
ZNF646ENSG00000167395ENST00000394979p.S341Rc.1021A>CSubstitution - Missense
MBD1ENSG00000141644ENST00000382948p.A268Pc.802G>CSubstitution - Missense
MBD1ENSG00000141644ENST00000269471p.A268Pc.802G>CSubstitution - Missense
GATAD2AENSG00000167491ENST00000404158p.P236Lc.707C>TSubstitution - Missense
HAS1ENSG00000105509ENST00000222115p.G489Gc.1467C>GSubstitution - coding silent
ZNF574ENSG00000105732ENST00000359044p.G189Gc.567T>GSubstitution - coding silent
ZNF574ENSG00000105732ENST00000222339p.G279Gc.837T>GSubstitution - coding silent
SPATC1LENSG00000160284ENST00000291672p.P213Pc.639G>TSubstitution - coding silent
MERTKENSG00000153208ENST00000295408p.A708Sc.2122G>TSubstitution - Missense
ADAM19ENSG00000135074ENST00000394020p.L426Vc.1276C>GSubstitution - Missense
ADAM19ENSG00000135074ENST00000430702p.L157Vc.469C>GSubstitution - Missense
SLC2A6ENSG00000160326ENST00000414172p.R128Hc.383G>ASubstitution - Missense
WNK2ENSG00000165238ENST00000427277p.P538Rc.1613C>GSubstitution - Missense
HNRNPKENSG00000165119ENST00000376264p.S141Tc.422G>CSubstitution - Missense
ENST00000376256p.S72Tc.215G>CSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.I4617Vc.13849A>GSubstitution - Missense
NADSYN1ENSG00000172890ENST00000319023p.G224Sc.670G>ASubstitution - Missense
VPS39ENSG00000166887ENST00000318006p.D204Vc.611A>TSubstitution - Missense
ENST00000414268p.I1346Sc.4037T>GSubstitution - Missense
RPL36AENSG00000241343ENST00000427805p.T98Sc.292A>TSubstitution - Missense
TMC2ENSG00000149488ENST00000358864p.N742Sc.2225A>GSubstitution - Missense
CDKN2AENSG00000147889ENST00000498124p.L94fs*52c.281delTDeletion - Frameshift
PSG11ENSG00000243130ENST00000401740p.R98Gc.292C>GSubstitution - Missense
VWA8ENSG00000102763ENST00000379310p.L1474Lc.4422C>TSubstitution - coding silent
BTBD16ENSG00000138152ENST00000260723p.R466Sc.1398G>CSubstitution - Missense
PCID2ENSG00000126226ENST00000246505p.L306Lc.918G>ASubstitution - coding silent
MYO1BENSG00000128641ENST00000392318p.R644Sc.1932A>TSubstitution - Missense
DOT1LENSG00000104885ENST00000398665p.?c.2544+5G>TUnknown
MRPS9ENSG00000135972ENST00000258455p.C5Fc.14G>TSubstitution - Missense
GRM3ENSG00000198822ENST00000361669p.T441Tc.1323G>CSubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.H179Rc.536A>GSubstitution - Missense
SPTLC1ENSG00000090054ENST00000337841p.S86*c.257C>GSubstitution - Nonsense
ADAM21ENSG00000139985ENST00000267499p.R96Cc.286C>TSubstitution - Missense
RIC8BENSG00000111785ENST00000392839p.E514Dc.1542G>CSubstitution - Missense
C10orf71ENSG00000177354ENST00000323868p.Q378Hc.1134G>TSubstitution - Missense
ENST00000414268p.I1346Vc.4036A>GSubstitution - Missense
COX4I2ENSG00000131055ENST00000376075p.V119Ac.356T>CSubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.I1192Tc.3575T>CSubstitution - Missense
CEP85LENSG00000111860ENST00000419517p.Q282Kc.844C>ASubstitution - Missense
SHROOM2ENSG00000146950ENST00000380913p.Y680Cc.2039A>GSubstitution - Missense
HOXD12ENSG00000170178ENST00000406506p.C158Cc.474C>TSubstitution - coding silent
TECTAENSG00000109927ENST00000392793p.E1081fs*86c.3241_3242insGGATGATGInsertion - Frameshift
ADAMTS8ENSG00000134917ENST00000257359p.P308Qc.923C>ASubstitution - Missense
FMN1ENSG00000248905ENST00000334528p.I1123Sc.3368T>GSubstitution - Missense
TNS1ENSG00000079308ENST00000171887p.G1170Gc.3510C>GSubstitution - coding silent
ANKRD36ENSG00000135976ENST00000420699p.T497Sc.1490C>GSubstitution - Missense
ZAP70ENSG00000115085ENST00000264972p.G448Gc.1344G>ASubstitution - coding silent
DNAH7ENSG00000118997ENST00000312428p.Q2899*c.8695C>TSubstitution - Nonsense
LRRC25ENSG00000175489ENST00000339007p.V195Lc.583G>CSubstitution - Missense
SPG11ENSG00000104133ENST00000261866p.A1570Tc.4708G>ASubstitution - Missense
ENST00000414315p.H47Rc.140A>GSubstitution - Missense
MYOFENSG00000138119ENST00000371488p.S63Pc.187T>CSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.K2480Qc.7438A>CSubstitution - Missense
MYT1LENSG00000186487ENST00000399161p.I1072Vc.3214A>GSubstitution - Missense
RRBP1ENSG00000125844ENST00000377813p.A502Sc.1504G>TSubstitution - Missense
ENST00000270620p.H159Pc.476A>CSubstitution - Missense
ZNF99ENSG00000213973ENST00000397104p.L713Ic.2137C>ASubstitution - Missense
ENST00000356127p.V23230Ac.69689T>CSubstitution - Missense
ZNRF4ENSG00000105428ENST00000222033p.V159Vc.477G>ASubstitution - coding silent
CLIP3ENSG00000105270ENST00000360535p.Y435Yc.1305C>TSubstitution - coding silent
NR5A1ENSG00000136931ENST00000373588p.A104Ac.312C>GSubstitution - coding silent
KBTBD8ENSG00000163376ENST00000417314p.G582Gc.1746C>TSubstitution - coding silent
KBTBD8ENSG00000163376ENST00000295568p.G556Gc.1668C>TSubstitution - coding silent
STC1ENSG00000159167ENST00000290271p.A49Ac.147T>CSubstitution - coding silent
DPY19L4ENSG00000156162ENST00000414645p.Y295Fc.884A>TSubstitution - Missense
OTUD6BENSG00000155100ENST00000285420p.?c.173-207_216del251Unknown
OTUD6BENSG00000155100ENST00000404789p.?c.83-207_126del251Unknown
TAOK1ENSG00000160551ENST00000261716p.V891Vc.2673C>GSubstitution - coding silent
ARL16ENSG00000214087ENST00000397498p.L55Rc.164T>GSubstitution - Missense
C19orf38ENSG00000214212ENST00000397820p.?c.31+7C>TUnknown
ZNF136ENSG00000196646ENST00000343979p.R346Tc.1037G>CSubstitution - Missense
RFC1ENSG00000035928ENST00000381897p.K1122Tc.3365A>CSubstitution - Missense
PFASENSG00000178921ENST00000314666p.E1032fs*15c.3092_3123del32Deletion - Frameshift
TTNENSG00000155657ENST00000359218p.V16860Ac.50579T>CSubstitution - Missense
ENST00000388944p.?c.3977+8A>GUnknown
CASP8ENSG00000064012ENST00000358485p.?c.483-2A>TUnknown
CASP8ENSG00000064012ENST00000264275p.?c.402-2A>TUnknown
IMPG2ENSG00000081148ENST00000193391p.P972Lc.2915C>TSubstitution - Missense
ZNF646ENSG00000167395ENST00000300850p.S341Rc.1021A>CSubstitution - Missense
YIPF4ENSG00000119820ENST00000238831p.S34Yc.101C>ASubstitution - Missense
ENST00000405167p.L1873Vc.5617C>GSubstitution - Missense
TACR3ENSG00000169836ENST00000304883p.W83*c.249G>ASubstitution - Nonsense
TBCKENSG00000145348ENST00000273980p.D739Ec.2217T>ASubstitution - Missense
NM_203407.1p.R384Tc.1151G>CSubstitution - Missense
CXorf67ENSG00000187690ENST00000342995p.R384Tc.1151G>CSubstitution - Missense
IL18R1ENSG00000115604ENST00000233957p.R75Rc.223A>CSubstitution - coding silent
APCENSG00000134982ENST00000457016p.R88Rc.264G>ASubstitution - coding silent
P2RY13ENSG00000181631ENST00000325602p.Q207Hc.621A>TSubstitution - Missense
P2RY13ENSG00000181631ENST00000325602p.Q186Hc.558A>TSubstitution - Missense
METTL14ENSG00000145388ENST00000388822p.I134Mc.402C>GSubstitution - Missense
OR2Y1ENSG00000174339ENST00000307832p.F12Lc.36C>ASubstitution - Missense
OSBPL3ENSG00000070882ENST00000313367p.S272Sc.816G>ASubstitution - coding silent
GLB1LENSG00000163521ENST00000295759p.R47Rc.141C>TSubstitution - coding silent
LTFENSG00000012223ENST00000231751p.P153Pc.459A>GSubstitution - coding silent
RELNENSG00000189056ENST00000343529p.?c.8274+4A>CUnknown
ENST00000361570_v62p.G150fs*>24c.447delTDeletion - Frameshift
CDKN2AENSG00000147889ENST00000446177p.L94fs*52c.281delTDeletion - Frameshift
FOCADENSG00000188352ENST00000380249p.T1725Ic.5174C>TSubstitution - Missense
GATAD2AENSG00000167491ENST00000360315p.P236Lc.707C>TSubstitution - Missense
ZNF429ENSG00000197013ENST00000358491p.P536Sc.1606C>TSubstitution - Missense
OPA3ENSG00000125741ENST00000323060p.V140Gc.419T>GSubstitution - Missense
KREMEN2ENSG00000131650ENST00000303746p.A56Sc.166G>TSubstitution - Missense
PLA1AENSG00000144837ENST00000273371p.?c.453+5G>AUnknown
ZNF827ENSG00000151612ENST00000379448p.S362Yc.1085C>ASubstitution - Missense
ZNF827ENSG00000151612ENST00000379448p.S362Yc.1085C>ASubstitution - Missense
KRT16ENSG00000186832ENST00000301653p.T3Pc.7A>CSubstitution - Missense
LRRC31ENSG00000114248ENST00000316428p.?c.176-8T>GUnknown
LHX3ENSG00000107187ENST00000371746p.G225Dc.674G>ASubstitution - Missense
COL5A1ENSG00000130635ENST00000371817p.D633Hc.1897G>CSubstitution - Missense
ZCCHC6ENSG00000083223ENST00000375963p.?c.4095-6C>GUnknown
SPTLC1ENSG00000090054ENST00000262554p.S86*c.257C>GSubstitution - Nonsense
ELMO1ENSG00000155849ENST00000310758p.?c.244-5A>TUnknown
ENST00000319589p.G113Rc.337G>CSubstitution - Missense
ADAM19ENSG00000135074ENST00000257527p.L424Vc.1270C>GSubstitution - Missense
LAMB1ENSG00000091136ENST00000222399p.Q1723Hc.5169A>TSubstitution - Missense
COBLENSG00000106078ENST00000395540p.L460Lc.1378T>CSubstitution - coding silent
LYPD5ENSG00000159871ENST00000414615p.V134Ic.400G>ASubstitution - Missense
NR5A1ENSG00000136931ENST00000373588p.A104Dc.311C>ASubstitution - Missense
TENM3ENSG00000218336ENST00000511685p.D2642Nc.7924G>ASubstitution - Missense
ENST00000302418_v70p.H200Rc.599A>GSubstitution - Missense
NEURL1ENSG00000107954ENST00000369777p.H117Pc.350A>CSubstitution - Missense
NCOA4ENSG00000138293ENST00000438493p.Y624Cc.1871A>GSubstitution - Missense
MYOFENSG00000138119ENST00000371501p.S63Pc.187T>CSubstitution - Missense
MYOFENSG00000138119ENST00000371502p.S63Pc.187T>CSubstitution - Missense
FAM109AENSG00000198324ENST00000450786p.V115Gc.344T>GSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.H179Rc.536A>GSubstitution - Missense
ENST00000545858p.H86Rc.257A>GSubstitution - Missense
NEURL1ENSG00000107954ENST00000369780p.H134Pc.401A>CSubstitution - Missense
STAT5BENSG00000173757ENST00000293328p.L383Lc.1149C>GSubstitution - coding silent
ADAM21ENSG00000139985ENST00000267499p.R96Cc.286C>TSubstitution - Missense
OR4P4ENSG00000181927ENST00000314612p.G14Wc.40G>TSubstitution - Missense
DAAM1ENSG00000100592ENST00000351081p.K496Nc.1488G>TSubstitution - Missense
ZNF254ENSG00000213096ENST00000357002p.R6Kc.17G>ASubstitution - Missense
SLC2A6ENSG00000160326ENST00000371899p.R238Hc.713G>ASubstitution - Missense
KIF5BENSG00000170759ENST00000302418p.H200Rc.599A>GSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.H179Rc.536A>GSubstitution - Missense
PMLENSG00000140464ENST00000268059p.R724Rc.2172G>CSubstitution - coding silent
FAM109AENSG00000198324ENST00000547838p.G134Gc.402T>GSubstitution - coding silent
CYP2C18ENSG00000108242ENST00000285979p.R97Tc.290G>CSubstitution - Missense
MYOFENSG00000138119ENST00000359263p.S63Pc.187T>CSubstitution - Missense
ZNF408ENSG00000175213ENST00000311764p.R624Rc.1870C>ASubstitution - coding silent
NESENSG00000132688ENST00000368223p.G1109Gc.3327G>ASubstitution - coding silent
TAPBPLENSG00000139192ENST00000266556p.A413Gc.1238C>GSubstitution - Missense
TMTC2ENSG00000179104ENST00000321196p.L193Lc.579C>TSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.K2210Qc.6628A>CSubstitution - Missense
KRT6AENSG00000205420ENST00000330722p.V38Lc.112G>TSubstitution - Missense
PDS5BENSG00000083642ENST00000315596p.K280*c.838A>TSubstitution - Nonsense
B4GALT3ENSG00000158850ENST00000367998p.G332fs*>59c.993_1002del10Deletion - Frameshift
ENST00000414575p.P337Qc.1010C>ASubstitution - Missense
CAPRIN1ENSG00000135387ENST00000341394p.T5Pc.13A>CSubstitution - Missense
CAPRIN1ENSG00000135387ENST00000389645p.T5Pc.13A>CSubstitution - Missense
CHIAENSG00000134216ENST00000369740p.Y212Cc.635A>GSubstitution - Missense
CHIAENSG00000134216ENST00000430615p.Y104Cc.311A>GSubstitution - Missense
EMC1ENSG00000127463ENST00000477853p.Q816fs*44c.2447_2456del10Deletion - Frameshift
SPSB3ENSG00000162032ENST00000566339p.S119Cc.355A>TSubstitution - Missense
NPIPA8ENSG00000214940ENST00000339303p.C427Cc.1281T>CSubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.D1635Hc.4903G>CSubstitution - Missense
GDPGP1ENSG00000183208ENST00000329600p.R202Lc.605G>TSubstitution - Missense
NCOA4ENSG00000138293ENST00000452682p.Y624Cc.1871A>GSubstitution - Missense
C10orf71ENSG00000177354ENST00000374144p.Q378Hc.1134G>TSubstitution - Missense
RUFY2ENSG00000204130ENST00000388768p.Q544Ec.1630C>GSubstitution - Missense
CDH23ENSG00000107736ENST00000442677p.L718Hc.2153T>ASubstitution - Missense
SCYL1ENSG00000142186ENST00000270176p.P612Hc.1835C>ASubstitution - Missense
SCYL1ENSG00000142186ENST00000270176p.P612Hc.1835C>ASubstitution - Missense
SV2AENSG00000159164ENST00000369146p.D586Yc.1756G>TSubstitution - Missense
FLGENSG00000143631ENST00000368799p.G3805Ac.11414G>CSubstitution - Missense
GANCENSG00000214013ENST00000318010p.V448Ic.1342G>ASubstitution - Missense
CACNA1SENSG00000081248ENST00000362061p.I1043Ic.3129C>TSubstitution - coding silent
ZNF280DENSG00000137871ENST00000267807p.L221Lc.663A>TSubstitution - coding silent
MPHOSPH9ENSG00000051825ENST00000541076p.T617_T626del10c.1848_1877del30Deletion - In frame
FZD10ENSG00000111432ENST00000229030p.L316Lc.948C>GSubstitution - coding silent
PRAMEF2ENSG00000120952ENST00000240189p.K311Kc.933G>ASubstitution - coding silent
PRAMEF2ENSG00000120952ENST00000240189p.S314Yc.941C>ASubstitution - Missense
UNC79ENSG00000133958ENST00000256339p.Q638Kc.1912C>ASubstitution - Missense
PAQR5ENSG00000137819ENST00000395407p.I310Tc.929T>CSubstitution - Missense
FMN1ENSG00000248905ENST00000334528p.I1123Vc.3367A>GSubstitution - Missense
CARD6ENSG00000132357ENST00000254691p.L30Ic.88T>ASubstitution - Missense
C7ENSG00000112936ENST00000313164p.?c.429-1delgUnknown
B4GALNT2ENSG00000167080ENST00000300404p.?c.830_859+9del39Unknown
FSIP2ENSG00000188738ENST00000343098p.G165Vc.494G>TSubstitution - Missense
MYO1BENSG00000128641ENST00000339514p.R644Sc.1932A>TSubstitution - Missense
ENST00000435384p.S96Cc.286A>TSubstitution - Missense
GPR108ENSG00000125734ENST00000264080p.?c.857+6G>CUnknown
SU_WNK2p.P912Rc.2735C>GSubstitution - Missense
NM_021029.3p.T62Sc.184A>TSubstitution - Missense
NCOR1ENSG00000141027ENST00000268712p.P21Tc.61C>ASubstitution - Missense
ZNF492ENSG00000229676ENST00000456783p.Y449*c.1347C>ASubstitution - Nonsense
PEPDENSG00000124299ENST00000244137p.S93Sc.279G>TSubstitution - coding silent
NFATC2ENSG00000101096ENST00000396009p.N657Kc.1971C>GSubstitution - Missense
TAOK1ENSG00000160551ENST00000261716p.V891Vc.2673C>GSubstitution - coding silent
NM_003319p.V16735Ac.50204T>CSubstitution - Missense
ZAP70ENSG00000115085ENST00000264972p.G448Ec.1343G>ASubstitution - Missense
RAPGEF2ENSG00000109756ENST00000264431p.V201Vc.603C>GSubstitution - coding silent
NLRP3ENSG00000162711ENST00000391828p.K942Nc.2826G>CSubstitution - Missense
EDA2RENSG00000131080ENST00000374719p.E7Qc.19G>CSubstitution - Missense
NM_023038.2p.L425Vc.1273C>GSubstitution - Missense
KDM3BENSG00000120733ENST00000314358p.T1311Tc.3933A>GSubstitution - coding silent
DCTN5ENSG00000166847ENST00000300087p.Q162Lc.485A>TSubstitution - Missense
CR2ENSG00000117322ENST00000367057p.A608Pc.1822G>CSubstitution - Missense
TRIM42ENSG00000155890ENST00000286349p.P606Tc.1816C>ASubstitution - Missense
TRMT12ENSG00000183665ENST00000328599p.A329Sc.985G>TSubstitution - Missense
SPENENSG00000065526ENST00000375759p.Q1829*c.5485C>TSubstitution - Nonsense
LNX2ENSG00000139517ENST00000316334p.S141Ac.421T>GSubstitution - Missense
ITPR2ENSG00000123104ENST00000381340p.A738Sc.2212G>TSubstitution - Missense
MRASENSG00000158186ENST00000289104p.L29Fc.85C>TSubstitution - Missense
RAB38ENSG00000123892ENST00000243662p.I26Ic.78C>TSubstitution - coding silent
NM_032457.1p.S751Ic.2252G>TSubstitution - Missense
CDKN2AENSG00000147889ENST00000304494p.L94fs*52c.281delTDeletion - Frameshift
CAPN6ENSG00000077274ENST00000324068p.K116Kc.348A>GSubstitution - coding silent
NFE2L2ENSG00000116044ENST00000397062p.R34Gc.100C>GSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.H179Rc.536A>GSubstitution - Missense


COSMIC

42 mutations reported
11 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
EYA1ENSG00000104313ENST00000388742p.T112Tc.336A>GSubstitution - coding silent
AATKENSG00000181409ENST00000326724p.A220Ac.660G>ASubstitution - coding silent
AATKENSG00000181409ENST00000326724p.A220Ac.660G>ASubstitution - coding silent
ENST00000221482p.?c.2544+5G>TUnknown
VWA8ENSG00000102763ENST00000379310p.L1474Lc.4422C>TSubstitution - coding silent
SHROOM2ENSG00000146950ENST00000380913p.Y680Cc.2039A>GSubstitution - Missense
DDX1ENSG00000079785ENST00000381341p.Q332Ec.994C>GSubstitution - Missense
NM_006343p.A708Sc.2122G>TSubstitution - Missense
NM_006343p.A708Sc.2122G>TSubstitution - Missense
PIGNENSG00000197563ENST00000357637p.L349Vc.1045C>GSubstitution - Missense
EP300ENSG00000100393ENST00000263253p.P1452Lc.4355C>TSubstitution - Missense
EP300ENSG00000100393ENST00000263253p.P1452Lc.4355C>TSubstitution - Missense
BEX5ENSG00000184515ENST00000543160p.E74Dc.222G>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.H179Rc.536A>GSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.H179Rc.536A>GSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.H179Rc.536A>GSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.H179Rc.536A>GSubstitution - Missense
KDM3BENSG00000120733ENST00000314358p.T1311Tc.3933A>GSubstitution - coding silent
RAPGEF2ENSG00000109756ENST00000264431p.V201Vc.603C>GSubstitution - coding silent
EDA2RENSG00000131080ENST00000374719p.E7Qc.19G>CSubstitution - Missense
DCTN5ENSG00000166847ENST00000300087p.Q162Lc.485A>TSubstitution - Missense
CAPN6ENSG00000077274ENST00000324068p.K116Kc.348A>GSubstitution - coding silent
EDA2RENSG00000131080ENST00000374719p.E7Qc.19G>CSubstitution - Missense
TAOK1ENSG00000160551ENST00000261716p.V891Vc.2673C>GSubstitution - coding silent
TAOK1ENSG00000160551ENST00000261716p.V891Vc.2673C>GSubstitution - coding silent
NM_023038.2p.L425Vc.1273C>GSubstitution - Missense
MRASENSG00000158186ENST00000289104p.L29Fc.85C>TSubstitution - Missense
NM_003319p.V16735Ac.50204T>CSubstitution - Missense
NM_003319p.V16735Ac.50204T>CSubstitution - Missense
ZAP70ENSG00000115085ENST00000264972p.G448Ec.1343G>ASubstitution - Missense
ZAP70ENSG00000115085ENST00000264972p.G448Ec.1343G>ASubstitution - Missense
TRMT12ENSG00000183665ENST00000328599p.A329Sc.985G>TSubstitution - Missense
SPENENSG00000065526ENST00000375759p.Q1829*c.5485C>TSubstitution - Nonsense
ITPR2ENSG00000123104ENST00000381340p.A738Sc.2212G>TSubstitution - Missense
RAB38ENSG00000123892ENST00000243662p.I26Ic.78C>TSubstitution - coding silent
LNX2ENSG00000139517ENST00000316334p.S141Ac.421T>GSubstitution - Missense
CR2ENSG00000117322ENST00000367057p.A608Pc.1822G>CSubstitution - Missense
NLRP3ENSG00000162711ENST00000391828p.K942Nc.2826G>CSubstitution - Missense
TRIM42ENSG00000155890ENST00000286349p.P606Tc.1816C>ASubstitution - Missense
NM_032457.1p.S751Ic.2252G>TSubstitution - Missense
RNF10ENSG00000022840ENST00000325954p.E364Kc.1090G>ASubstitution - Missense
ARFGEF1ENSG00000066777ENST00000262215p.E1374Dc.4122A>TSubstitution - Missense