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NH-12 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

728 mutations reported
256 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
RGL3ENSG00000205517ENST00000393423p.P613Lc.1838C>TSubstitution - Missense
ENST00000318560_v70p.A647Dc.1940C>ASubstitution - Missense
ADARENSG00000160710ENST00000368474p.S257Sc.771C>TSubstitution - coding silent
ENST00000224764p.?c.230+7A>GUnknown
ENST00000224764p.?c.230+7A>GUnknown
SDCCAG8ENSG00000054282ENST00000366541p.H266Hc.798T>CSubstitution - coding silent
NM_015906p.?c.2967+3G>AUnknown
FLGENSG00000143631ENST00000368799p.S1906*c.5717C>ASubstitution - Nonsense
GPHNENSG00000171723ENST00000478722p.D582Nc.1744G>ASubstitution - Missense
PKP2ENSG00000057294ENST00000070846p.H318Pc.953A>CSubstitution - Missense
FMNL1ENSG00000184922ENST00000331495p.T162Mc.485C>TSubstitution - Missense
FAM208AENSG00000163946ENST00000431842p.Y86Yc.258T>CSubstitution - coding silent
ACY1ENSG00000243989ENST00000458031p.R440Hc.1319G>ASubstitution - Missense
OSBPL3ENSG00000070882ENST00000313367p.S374Pc.1120T>CSubstitution - Missense
LTV1ENSG00000135521ENST00000367576p.K305Kc.915G>ASubstitution - coding silent
WDPCPENSG00000143951ENST00000272321p.S103Sc.309G>ASubstitution - coding silent
ENST00000382675p.Q541Kc.1621C>ASubstitution - Missense
SCPEP1ENSG00000121064ENST00000262288p.A173Tc.517G>ASubstitution - Missense
DCLK2ENSG00000170390ENST00000302176p.I45Ic.135C>ASubstitution - coding silent
PCDHGB4ENSG00000253953ENST00000519479p.A609Ac.1827T>CSubstitution - coding silent
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000336649p.N1580Nc.4740T>CSubstitution - coding silent
CDC14AENSG00000079335ENST00000544534p.T570Tc.1710C>TSubstitution - coding silent
TDP2ENSG00000111802ENST00000545995p.S90Sc.270C>TSubstitution - coding silent
EIF3GENSG00000130811ENST00000253108p.N311Nc.933C>TSubstitution - coding silent
COL5A3ENSG00000080573ENST00000264828p.D1092Nc.3274G>ASubstitution - Missense
KRT2ENSG00000172867ENST00000309680p.S24Sc.72C>TSubstitution - coding silent
IARS2ENSG00000067704ENST00000302637p.P375Rc.1124C>GSubstitution - Missense
ENST00000349637p.G2871Gc.8613C>TSubstitution - coding silent
SAAL1ENSG00000166788ENST00000524803p.E19_V20insEEc.40_41insAGGAGGInsertion - In frame
MICU1ENSG00000107745ENST00000361114p.R3Hc.8G>ASubstitution - Missense
NM_004284.2p.A503Sc.1507G>TSubstitution - Missense
RALGAPA1ENSG00000174373ENST00000307138p.S715Lc.2144C>TSubstitution - Missense
DHCR24ENSG00000116133ENST00000371269p.R444Hc.1331G>ASubstitution - Missense
SEC23AENSG00000100934ENST00000307712p.T161Kc.482C>ASubstitution - Missense
NOX5ENSG00000255346ENST00000260364p.G649Sc.1945G>ASubstitution - Missense
MSLNENSG00000102854ENST00000382862p.G613Ec.1838G>ASubstitution - Missense
EFCAB3ENSG00000172421ENST00000305286p.N339Kc.1017T>ASubstitution - Missense
ESRP1ENSG00000104413ENST00000433389p.T474Ic.1421C>TSubstitution - Missense
ACY1ENSG00000243989ENST00000404366p.R350Hc.1049G>ASubstitution - Missense
PHLPP1ENSG00000081913ENST00000400316p.A196Sc.586G>TSubstitution - Missense
MFI2ENSG00000163975ENST00000296351p.?c.645-4G>AUnknown
ENST00000333145p.D55Dc.165C>TSubstitution - coding silent
CBWD1ENSG00000172785ENST00000377447p.G144Ac.431G>CSubstitution - Missense
IZUMO4ENSG00000099840ENST00000395301p.R187Cc.559C>TSubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.T268Tc.804A>GSubstitution - coding silent
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
MYO16ENSG00000041515ENST00000251041p.R647Qc.1940G>ASubstitution - Missense
TGENSG00000042832ENST00000220616p.N2616Ic.7847A>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H1645Dc.4933C>GSubstitution - Missense
PLXNB1ENSG00000164050ENST00000296440p.A1341Sc.4021G>TSubstitution - Missense
ANKRD26ENSG00000107890ENST00000376087p.A142Vc.425C>TSubstitution - Missense
AAASENSG00000094914ENST00000209873p.Q387Hc.1161G>CSubstitution - Missense
DCLRE1CENSG00000152457ENST00000378278p.E462Vc.1385A>TSubstitution - Missense
TAL1ENSG00000162367ENST00000371884p.P277Sc.829C>TSubstitution - Missense
C6ENSG00000039537ENST00000263413p.D360Vc.1079A>TSubstitution - Missense
EDN3ENSG00000124205ENST00000311585p.A142Ac.426G>ASubstitution - coding silent
ZNF91ENSG00000167232ENST00000300619p.E991Ec.2973G>ASubstitution - coding silent
VRK3ENSG00000105053ENST00000316763p.W421Cc.1263G>TSubstitution - Missense
HTTENSG00000197386ENST00000355072p.V911Vc.2733T>CSubstitution - coding silent
DYNLT3ENSG00000165169ENST00000378578p.Q42Qc.126G>ASubstitution - coding silent
SLC34A2ENSG00000157765ENST00000382051p.I429Ic.1287C>TSubstitution - coding silent
SURF6ENSG00000148296ENST00000372022p.Q353Ec.1057C>GSubstitution - Missense
SUPT5HENSG00000196235ENST00000359191p.L100Lc.298C>TSubstitution - coding silent
NR4A2ENSG00000153234ENST00000339562p.C566Fc.1697G>TSubstitution - Missense
BSPRYENSG00000119411ENST00000374183p.D270Dc.810C>TSubstitution - coding silent
FER1L6ENSG00000214814ENST00000399018p.K1322Qc.3964A>CSubstitution - Missense
NEBENSG00000183091ENST00000427231p.D2917Yc.8749G>TSubstitution - Missense
SVEP1ENSG00000165124ENST00000302728p.G1136Wc.3406G>TSubstitution - Missense
WWC3ENSG00000047644ENST00000380861p.T360Pc.1078A>CSubstitution - Missense
PRSS38ENSG00000185888ENST00000366757p.H103Nc.307C>ASubstitution - Missense
PXMP2ENSG00000176894ENST00000317479p.R59Wc.175C>TSubstitution - Missense
WDR24ENSG00000127580ENST00000248142p.W233Rc.697T>CSubstitution - Missense
PTOV1ENSG00000104960ENST00000391842p.Q326Qc.978G>ASubstitution - coding silent
GLIS3ENSG00000107249ENST00000381971p.?c.2657-4C>GUnknown
EBF2ENSG00000221818ENST00000520164p.R172Qc.515G>ASubstitution - Missense
FHOD3ENSG00000134775ENST00000257209p.N887Nc.2661C>TSubstitution - coding silent
EIF5BENSG00000158417ENST00000289371p.K198Ec.592A>GSubstitution - Missense
NPNTENSG00000168743ENST00000379987p.S484*c.1451C>ASubstitution - Nonsense
SYNE1ENSG00000131018ENST00000423061p.S5360Tc.16079G>CSubstitution - Missense
GTF2IENSG00000077809ENST00000324896p.S441*c.1322C>ASubstitution - Nonsense
CRELD2ENSG00000184164ENST00000404488p.?c.592+5G>AUnknown
CACNA1IENSG00000100346ENST00000404898p.N1539Nc.4617T>CSubstitution - coding silent
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
MYO10ENSG00000145555ENST00000274203p.S1976Sc.5928C>TSubstitution - coding silent
OR52E2ENSG00000176787ENST00000321522p.P290Pc.870T>CSubstitution - coding silent
MYO16ENSG00000041515ENST00000457511p.R159Qc.476G>ASubstitution - Missense
PADI2ENSG00000117115ENST00000375486p.?c.1310+10G>TUnknown
PKP1ENSG00000081277ENST00000367324p.P5Pc.15G>TSubstitution - coding silent
C1orf123ENSG00000162384ENST00000294360p.?c.90+1delgUnknown
HAX1ENSG00000143575ENST00000328703p.P198Lc.593C>TSubstitution - Missense
XM_290867.2p.P371Lc.1112C>TSubstitution - Missense
BAIAP2L1ENSG00000006453ENST00000005260p.L440Fc.1320G>TSubstitution - Missense
PDK1ENSG00000152256ENST00000282077p.?c.691+4A>GUnknown
TUBA8ENSG00000183785ENST00000330423p.D431Ec.1293T>GSubstitution - Missense
C2orf53ENSG00000186143ENST00000335524p.T184Sc.551C>GSubstitution - Missense
ARHGEF38ENSG00000236699ENST00000420470p.K297Kc.891G>ASubstitution - coding silent
NM_001371.1p.M896Ic.2688G>TSubstitution - Missense
STK32BENSG00000152953ENST00000282908p.E93Dc.279G>TSubstitution - Missense
BRICD5ENSG00000182685ENST00000562360p.R135Wc.403C>TSubstitution - Missense
ENST00000507381p.E214Dc.642A>CSubstitution - Missense
DAB2IPENSG00000136848ENST00000309989p.P701Pc.2103G>ASubstitution - coding silent
CYP27A1ENSG00000135929ENST00000258415p.V238Mc.712G>ASubstitution - Missense
GOLGA8MENSG00000188626ENST00000563027p.S553Fc.1658C>TSubstitution - Missense
CELSR2ENSG00000143126ENST00000271332p.R2866Wc.8596C>TSubstitution - Missense
MYH11ENSG00000133392ENST00000396324p.F249Fc.747C>TSubstitution - coding silent
CCDC92ENSG00000119242ENST00000238156p.A164Ac.492C>TSubstitution - coding silent
PKP1ENSG00000081277ENST00000263946p.P5Pc.15G>TSubstitution - coding silent
MYH14ENSG00000105357ENST00000262269p.R1867Cc.5599C>TSubstitution - Missense
EBF2ENSG00000221818ENST00000520164p.R172Qc.515G>ASubstitution - Missense
UBAP2ENSG00000137073ENST00000379238p.?c.2797-9C>TUnknown
PCBP4ENSG00000090097ENST00000461554p.G261Gc.783C>ASubstitution - coding silent
CHRM2ENSG00000181072ENST00000320658p.I397Vc.1189A>GSubstitution - Missense
ALS2CR11ENSG00000155754ENST00000286195p.P38Pc.114G>ASubstitution - coding silent
CYP2U1ENSG00000155016ENST00000332884p.E517Gc.1550A>GSubstitution - Missense
RANBP2ENSG00000153201ENST00000283195p.K1828Kc.5484G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.S5431Tc.16292G>CSubstitution - Missense
FNDC1ENSG00000164694ENST00000297267p.P1226Ac.3676C>GSubstitution - Missense
CYLC1ENSG00000183035ENST00000329312p.N386Tc.1157A>CSubstitution - Missense
TEX14ENSG00000121101ENST00000349033p.N913Sc.2738A>GSubstitution - Missense
TCOF1ENSG00000070814ENST00000504761p.R1178Rc.3534G>ASubstitution - coding silent
NEBENSG00000183091ENST00000397345p.D4106Nc.12316G>ASubstitution - Missense
CALB2ENSG00000172137ENST00000302628p.Y126Yc.378C>TSubstitution - coding silent
RTP1ENSG00000175077ENST00000312295p.L131Mc.391C>ASubstitution - Missense
CAPN11ENSG00000137225ENST00000398776p.I648Ic.1944C>TSubstitution - coding silent
HLA-DOAENSG00000204252ENST00000229829p.S121Ac.361T>GSubstitution - Missense
GAPVD1ENSG00000165219ENST00000394105p.E163fs*8c.484_487delAAAGDeletion - Frameshift
XIRP2ENSG00000163092ENST00000295237p.K2020Kc.6060A>GSubstitution - coding silent
ENST00000328843_v70p.?c.7462-1G>TUnknown
ABL1ENSG00000097007ENST00000318560p.A647Dc.1940C>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.S5360Tc.16079G>CSubstitution - Missense
RBM26ENSG00000139746ENST00000267229p.Q455Qc.1365A>GSubstitution - coding silent
A2ML1ENSG00000166535ENST00000299698p.V151Vc.453G>TSubstitution - coding silent
CACNA1HENSG00000196557ENST00000358590p.L922Fc.2764C>TSubstitution - Missense
SPAG6ENSG00000077327ENST00000376603p.R87Lc.260G>TSubstitution - Missense
ADAM21ENSG00000139985ENST00000267499p.I601Vc.1801A>GSubstitution - Missense
TPM3ENSG00000143549ENST00000368531p.?c.384+7G>CUnknown
ENST00000389961_v65p.A1397Tc.4189G>ASubstitution - Missense
TAS1R1ENSG00000173662ENST00000333172p.T374Mc.1121C>TSubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.N1271Tc.3812A>CSubstitution - Missense
SPHKAPENSG00000153820ENST00000392056p.E522*c.1564G>TSubstitution - Nonsense
WNT10AENSG00000135925ENST00000258411p.D43Vc.128A>TSubstitution - Missense
SEMA3CENSG00000075223ENST00000265361p.A207Sc.619G>TSubstitution - Missense
TPRA1ENSG00000163870ENST00000355552p.R44Qc.131G>ASubstitution - Missense
ANTXR1ENSG00000169604ENST00000409829p.*334Yc.1002G>CNonstop extension
WDR17ENSG00000150627ENST00000280190p.G915Rc.2743G>ASubstitution - Missense
GYS1ENSG00000104812ENST00000323798p.N467Nc.1401T>CSubstitution - coding silent
NFASCENSG00000163531ENST00000367171p.R754Pc.2261G>CSubstitution - Missense
PTOV1ENSG00000104960ENST00000221557p.Q294Qc.882G>ASubstitution - coding silent
NEBENSG00000183091ENST00000397345p.D2917Yc.8749G>TSubstitution - Missense
EDN3ENSG00000124205ENST00000395654p.A142Ac.426G>ASubstitution - coding silent
CCDC180ENSG00000197816ENST00000411667p.E617*c.1849G>TSubstitution - Nonsense
THNSL2ENSG00000144115ENST00000324166p.V283Mc.847G>ASubstitution - Missense
EDEM1ENSG00000134109ENST00000256497p.Y420Cc.1259A>GSubstitution - Missense
STEAP2ENSG00000157214ENST00000394626p.H237Qc.711T>GSubstitution - Missense
FAM65BENSG00000111913ENST00000259698p.R388Hc.1163G>ASubstitution - Missense
ZNF141ENSG00000131127ENST00000240499p.I11Vc.31A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.T21963Pc.65887A>CSubstitution - Missense
ALS2CR11ENSG00000155754ENST00000439140p.P38Pc.114G>ASubstitution - coding silent
SU_EPHA6p.R672Pc.2015G>CSubstitution - Missense
LYZL4ENSG00000157093ENST00000287748p.A98Dc.293C>ASubstitution - Missense
CCDC138ENSG00000163006ENST00000295124p.R210Pc.629G>CSubstitution - Missense
CYP2D6ENSG00000100197ENST00000359033p.V276Vc.828G>ASubstitution - coding silent
TTC38ENSG00000075234ENST00000381031p.T63Pc.187A>CSubstitution - Missense
PHF21BENSG00000056487ENST00000313237p.A160Vc.479C>TSubstitution - Missense
DMRTA1ENSG00000176399ENST00000325870p.P17Rc.50C>GSubstitution - Missense
SOS1ENSG00000115904ENST00000426016p.?c.3392-5C>AUnknown
TEX14ENSG00000121101ENST00000240361p.N919Sc.2756A>GSubstitution - Missense
ENST00000378129p.T426Tc.1278T>CSubstitution - coding silent
MED15ENSG00000099917ENST00000263205p.V469Ic.1405G>ASubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.?c.858+9A>GUnknown
ENST00000327303p.Q455Qc.1365A>GSubstitution - coding silent
GUCY2CENSG00000070019ENST00000261170p.T197Ic.590C>TSubstitution - Missense
TPM3ENSG00000143549ENST00000368530p.?c.495+7G>CUnknown
ENST00000355909p.I18Fc.52A>TSubstitution - Missense
HTTENSG00000197386ENST00000355072p.S2382Rc.7146C>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.T21896Pc.65686A>CSubstitution - Missense
CEP192ENSG00000101639ENST00000506447p.?c.2068-9C>TUnknown
ZNF778ENSG00000170100ENST00000433976p.M238Vc.712A>GSubstitution - Missense
NM_001371.1p.R3620Qc.10859G>ASubstitution - Missense
GLP1RENSG00000112164ENST00000373256p.E34Ec.102G>ASubstitution - coding silent
KIAA1683ENSG00000130518ENST00000392413p.T377Tc.1131C>GSubstitution - coding silent
DHX58ENSG00000108771ENST00000251642p.K426Kc.1278G>ASubstitution - coding silent
PAF1ENSG00000006712ENST00000221265p.S499_A500insSc.1497_1498insAGCInsertion - In frame
NEBENSG00000183091ENST00000409198p.D3863Nc.11587G>ASubstitution - Missense
NEBENSG00000183091ENST00000409198p.D2917Yc.8749G>TSubstitution - Missense
THADAENSG00000115970ENST00000330266p.?c.3188+8C>TUnknown
ABL1ENSG00000097007ENST00000372348p.A666Dc.1997C>ASubstitution - Missense
GRM8ENSG00000179603ENST00000358373p.Y725Cc.2174A>GSubstitution - Missense
CUX2ENSG00000111249ENST00000261726p.P102Pc.306C>TSubstitution - coding silent
VWFENSG00000110799ENST00000261405p.E1389Ec.4167G>ASubstitution - coding silent
VEZTENSG00000028203ENST00000436874p.R223Cc.667C>TSubstitution - Missense
ZFHX2ENSG00000136367ENST00000419474p.T999Ic.2996C>TSubstitution - Missense
KIAA1033ENSG00000136051ENST00000332180p.A1140Ac.3420G>ASubstitution - coding silent
PIK3C2AENSG00000011405ENST00000265970p.A1544Pc.4630G>CSubstitution - Missense
ADAM10ENSG00000137845ENST00000260408p.?c.735+7A>GUnknown
DNM1LENSG00000087470ENST00000549701p.L690Mc.2068C>ASubstitution - Missense
C20orf202ENSG00000215595ENST00000400633p.H75Nc.223C>ASubstitution - Missense
TIMP2ENSG00000035862ENST00000262768p.V131Lc.391G>CSubstitution - Missense
BAP1ENSG00000163930ENST00000460680p.A304Ac.912C>ASubstitution - coding silent
PHLPP1ENSG00000081913ENST00000262719p.A709Sc.2125G>TSubstitution - Missense
ALS2CR11ENSG00000155754ENST00000450242p.P38Pc.114G>ASubstitution - coding silent
EPHA6ENSG00000080224ENST00000502694p.R158Pc.473G>CSubstitution - Missense
SEMA3CENSG00000075223ENST00000544525p.A225Sc.673G>TSubstitution - Missense
EXOC3L2ENSG00000130201ENST00000252482p.C371Yc.1112G>ASubstitution - Missense
C19orf10ENSG00000074842ENST00000262947p.S160Fc.479C>TSubstitution - Missense
PCOLCEENSG00000106333ENST00000223061p.Y270Yc.810C>TSubstitution - coding silent
GPR125ENSG00000152990ENST00000334304p.L1015Sc.3044T>CSubstitution - Missense
OR2A4ENSG00000180658ENST00000315453p.A56Tc.166G>ASubstitution - Missense
NEBENSG00000183091ENST00000427231p.D4106Nc.12316G>ASubstitution - Missense
NLRP7ENSG00000167634ENST00000446217p.E461Dc.1383G>CSubstitution - Missense
TMEM234ENSG00000160055ENST00000545122p.A28_R34delASAGLQRc.83_103del21Deletion - In frame
CAMSAP1ENSG00000130559ENST00000409386p.Q71Hc.213G>TSubstitution - Missense
UTYENSG00000183878ENST00000382896p.L587Rc.1760T>GSubstitution - Missense
OR2T33ENSG00000177212ENST00000318021p.N284Nc.852C>TSubstitution - coding silent
PCDH15ENSG00000150275ENST00000395438p.P923Lc.2768C>TSubstitution - Missense
EPS15ENSG00000085832ENST00000371733p.S315Rc.943A>CSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.L1018Lc.3054A>CSubstitution - coding silent
DDX27ENSG00000124228ENST00000371764p.K605Ec.1813A>GSubstitution - Missense
AMTNENSG00000187689ENST00000339336p.L20Lc.60C>GSubstitution - coding silent
TSPEARENSG00000175894ENST00000323084p.Q319Hc.957G>TSubstitution - Missense
TLR9ENSG00000239732ENST00000360658p.V967Vc.2901G>CSubstitution - coding silent
NM_003319p.T21771Pc.65311A>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P3456Sc.10366C>TSubstitution - Missense
ZNF525ENSG00000203326ENST00000474037p.T31Ic.92C>TSubstitution - Missense
ZNF525ENSG00000203326ENST00000491101p.T31Ic.92C>TSubstitution - Missense
NGLY1ENSG00000151092ENST00000280700p.?c.493-5A>GUnknown
CXCR1ENSG00000163464ENST00000295683p.V69fs*5c.201_205delCAGGGDeletion - Frameshift
ENST00000359737p.T377Tc.1131C>GSubstitution - coding silent
CACNA1IENSG00000100346ENST00000402142p.N1574Nc.4722T>CSubstitution - coding silent
VCANENSG00000038427ENST00000265077p.E2379Vc.7136A>TSubstitution - Missense
MYH9ENSG00000100345ENST00000216181p.I448Ic.1344C>TSubstitution - coding silent
ATL2ENSG00000119787ENST00000419554p.?c.1128+2_1128+3insAGUnknown
JADE2ENSG00000043143ENST00000395003p.G768Sc.2302G>ASubstitution - Missense
ZNF599ENSG00000153896ENST00000329285p.I258Ic.774T>ASubstitution - coding silent
STRA6ENSG00000137868ENST00000563965p.Q74Qc.222G>ASubstitution - coding silent
HEMK1ENSG00000114735ENST00000232854p.R329Qc.986G>ASubstitution - Missense
PFKFB2ENSG00000123836ENST00000367080p.L265Fc.795G>CSubstitution - Missense
KIF20BENSG00000138182ENST00000416354p.T154Sc.461C>GSubstitution - Missense
COMMD4ENSG00000140365ENST00000267935p.S175Fc.524C>TSubstitution - Missense
VEZTENSG00000028203ENST00000261219p.R175Cc.523C>TSubstitution - Missense
MS4A6AENSG00000110077ENST00000323961p.G56Cc.166G>TSubstitution - Missense
FLGENSG00000143631ENST00000368799p.G1953Cc.5857G>TSubstitution - Missense
NBPF15ENSG00000243452ENST00000369187p.P615Lc.1844C>TSubstitution - Missense
ENST00000417177p.P928Lc.2783C>TSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.D296Dc.888C>TSubstitution - coding silent
SLC6A9ENSG00000196517ENST00000372310p.F512Sc.1535T>CSubstitution - Missense
ABTB2ENSG00000166016ENST00000298992p.T192Nc.575C>ASubstitution - Missense
ENSG00000205148ENST00000378936p.D119fs*5c.353_354insGInsertion - Frameshift
NFASCENSG00000163531ENST00000360049p.R765Pc.2294G>CSubstitution - Missense
INADLENSG00000132849ENST00000371158p.?c.2439+8A>GUnknown
STAT4ENSG00000138378ENST00000358470p.S428Sc.1284C>TSubstitution - coding silent
UBASH3AENSG00000160185ENST00000319294p.F142Lc.426C>GSubstitution - Missense
STEAP2ENSG00000157214ENST00000394621p.H237Qc.711T>GSubstitution - Missense
ENST00000405167p.H2157Hc.6471C>TSubstitution - coding silent
USH1GENSG00000182040ENST00000319642p.D423Yc.1267G>TSubstitution - Missense
GOLGA4ENSG00000144674ENST00000361924p.S1425Rc.4273A>CSubstitution - Missense
APCENSG00000134982ENST00000457016p.S98Ic.293G>TSubstitution - Missense
EN1ENSG00000163064ENST00000295206p.K301Tc.902A>CSubstitution - Missense
HIF3AENSG00000124440ENST00000300862p.C161Sc.482G>CSubstitution - Missense
APOBEC3AENSG00000128383ENST00000402255p.K159Ec.475A>GSubstitution - Missense
DIAPH2ENSG00000147202ENST00000324765p.P556Sc.1666C>TSubstitution - Missense
DSELENSG00000171451ENST00000310045p.E662Gc.1985A>GSubstitution - Missense
ABCG5ENSG00000138075ENST00000260645p.T350Tc.1050G>ASubstitution - coding silent
SEC16AENSG00000148396ENST00000313050p.A398Vc.1193C>TSubstitution - Missense
NFASCENSG00000163531ENST00000367172p.R769Pc.2306G>CSubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.L2462Fc.7384C>TSubstitution - Missense
DAB2IPENSG00000136848ENST00000259371p.P797Pc.2391G>ASubstitution - coding silent
NCR1ENSG00000189430ENST00000291890p.R91Cc.271C>TSubstitution - Missense
LAMB3ENSG00000196878ENST00000367030p.M1123Kc.3368T>ASubstitution - Missense
SPRYD3ENSG00000167778ENST00000301463p.Y273Dc.817T>GSubstitution - Missense
METTL21CENSG00000139780ENST00000267273p.V196fs*37c.586_587insGInsertion - Frameshift
ENSG00000205148ENST00000378936p.D119fs*5c.355_356insGInsertion - Frameshift
CACNA1HENSG00000196557ENST00000358590p.D296Dc.888C>TSubstitution - coding silent
HMCN1ENSG00000143341ENST00000271588p.A4711Sc.14131G>TSubstitution - Missense
ENST00000446427p.G613Ec.1838G>ASubstitution - Missense
ENST00000400633_v68p.H75Nc.223C>ASubstitution - Missense
EDN3ENSG00000124205ENST00000337938p.A142Ac.426G>ASubstitution - coding silent
FAM166BENSG00000215187ENST00000399742p.R100Wc.298C>TSubstitution - Missense
ENST00000537504p.R100Wc.298C>TSubstitution - Missense
IQSEC2ENSG00000124313ENST00000375365p.S936Rc.2808C>ASubstitution - Missense
SLC27A5ENSG00000083807ENST00000263093p.V562Vc.1686G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.S5431Tc.16292G>CSubstitution - Missense
ADAM22ENSG00000008277ENST00000265727p.A375Sc.1123G>TSubstitution - Missense
APOBEC3AENSG00000128383ENST00000402255p.E157Ec.471A>GSubstitution - coding silent
KLKB1ENSG00000164344ENST00000264690p.G173Vc.518G>TSubstitution - Missense
POLR2IENSG00000105258ENST00000221859p.M23Ic.69G>ASubstitution - Missense
MFN1ENSG00000171109ENST00000263969p.I601Lc.1801A>CSubstitution - Missense
KCNH2ENSG00000055118ENST00000262186p.T319Tc.957C>TSubstitution - coding silent
MYO19ENSG00000141140ENST00000431794p.L602Lc.1806G>ASubstitution - coding silent
PHACTR1ENSG00000112137ENST00000379348p.K154Kc.462G>ASubstitution - coding silent
PCSK4ENSG00000115257ENST00000300954p.G288Gc.864C>TSubstitution - coding silent
GPD2ENSG00000115159ENST00000310454p.?c.2058+5G>TUnknown
SLC44A4ENSG00000204385ENST00000229729p.?c.1037+7G>CUnknown
IGSF9ENSG00000085552ENST00000368094p.?c.248-4C>TUnknown
NR4A2ENSG00000153234ENST00000539077p.C577Fc.1730G>TSubstitution - Missense
ENST00000448712p.G828Sc.2482G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.R3837Qc.11510G>ASubstitution - Missense
SOSTENSG00000167941ENST00000301691p.T34Mc.101C>TSubstitution - Missense
SPATA17ENSG00000162814ENST00000366933p.R245Qc.734G>ASubstitution - Missense
CDC14AENSG00000079335ENST00000336454p.T570Tc.1710C>TSubstitution - coding silent
TP53I11ENSG00000175274ENST00000395648p.M157Vc.469A>GSubstitution - Missense
KCNJ8ENSG00000121361ENST00000240662p.L358Mc.1072C>ASubstitution - Missense
NTPCRENSG00000135778ENST00000366628p.G116Gc.348G>ASubstitution - coding silent
ATP1A4ENSG00000132681ENST00000368081p.V337Vc.1011G>ASubstitution - coding silent
ENSG00000005189ENST00000261377p.F213Vc.637T>GSubstitution - Missense
CHORDC1ENSG00000110172ENST00000320585p.H95Rc.284A>GSubstitution - Missense
NOX5ENSG00000255346ENST00000260364p.?c.120+9T>CUnknown
BAP1ENSG00000163930ENST00000460680p.G178Gc.534C>TSubstitution - coding silent
ENST00000405167p.H2173Hc.6519C>TSubstitution - coding silent
MTTPENSG00000138823ENST00000265517p.P514Rc.1541C>GSubstitution - Missense
ENSG00000172901ENST00000357872p.A236Ac.708G>TSubstitution - coding silent
ASLENSG00000126522ENST00000304874p.*465*c.1395G>ASubstitution - coding silent
TBC1D9ENSG00000109436ENST00000442267p.A290Ec.869C>ASubstitution - Missense
SNCAIPENSG00000064692ENST00000503116p.S550Fc.1649C>TSubstitution - Missense
MUC21ENSG00000204544ENST00000376296p.A177Ac.531C>TSubstitution - coding silent
ENST00000400460p.L120Rc.359T>GSubstitution - Missense
TOP3BENSG00000100038ENST00000357179p.V264Lc.790G>CSubstitution - Missense
PKP4ENSG00000144283ENST00000389759p.T81Ac.241A>GSubstitution - Missense
THNSL2ENSG00000144115ENST00000343544p.V283Mc.847G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.M1113Ic.3339G>TSubstitution - Missense
SLC26A10ENSG00000135502ENST00000320442p.E447Kc.1339G>ASubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.R1187Pc.3560G>CSubstitution - Missense
CDAN1ENSG00000140326ENST00000356231p.?c.3096+7G>AUnknown
ALG14ENSG00000172339ENST00000370205p.N144Nc.432C>TSubstitution - coding silent
APCDD1LENSG00000198768ENST00000371149p.P466Pc.1398G>ASubstitution - coding silent
ENST00000375206p.E759*c.2275G>TSubstitution - Nonsense
UBOX5ENSG00000185019ENST00000217173p.P322Pc.966C>ASubstitution - coding silent
NPNTENSG00000168743ENST00000305572p.S455*c.1364C>ASubstitution - Nonsense
MUC4ENSG00000145113ENST00000463781p.H2157Hc.6471C>TSubstitution - coding silent
HEATR5BENSG00000008869ENST00000233099p.T1694Nc.5081C>ASubstitution - Missense
KLKB1ENSG00000164344ENST00000264690p.G173Rc.517G>ASubstitution - Missense
FXR1ENSG00000114416ENST00000357559p.D431Gc.1292A>GSubstitution - Missense
NM_007150.1p.P74Sc.220C>TSubstitution - Missense
NM_002711.2p.V625Ic.1873G>ASubstitution - Missense
SORCS2ENSG00000184985ENST00000329016p.V177Mc.529G>ASubstitution - Missense
PPP1R3AENSG00000154415ENST00000284601p.V625Ic.1873G>ASubstitution - Missense
NM_213596.1p.H205Hc.615C>TSubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.G3217Gc.9651G>ASubstitution - coding silent
CNTN5ENSG00000149972ENST00000528682p.E910*c.2728G>TSubstitution - Nonsense
ATP10AENSG00000206190ENST00000356865p.P1391Lc.4172C>TSubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.P923Lc.2768C>TSubstitution - Missense
TRIM33ENSG00000197323ENST00000358465p.?c.2967+3G>AUnknown
NFASCENSG00000163531ENST00000339876p.R769Pc.2306G>CSubstitution - Missense
TRIM33ENSG00000197323ENST00000448034p.?c.2249+3G>AUnknown
ADARENSG00000160710ENST00000292205p.S300Sc.900C>TSubstitution - coding silent
NTPCRENSG00000135778ENST00000366627p.G116Gc.348G>ASubstitution - coding silent
TAL1ENSG00000162367ENST00000371883p.P279Sc.835C>TSubstitution - Missense
RALGAPA1ENSG00000174373ENST00000258840p.S715Lc.2144C>TSubstitution - Missense
BAIAP3ENSG00000007516ENST00000397488p.T268Mc.803C>TSubstitution - Missense
CACNA1HENSG00000196557ENST00000348261p.D296Dc.888C>TSubstitution - coding silent
CACNA1HENSG00000196557ENST00000348261p.L922Fc.2764C>TSubstitution - Missense
FLYWCH1ENSG00000059122ENST00000399667p.R375Cc.1123C>TSubstitution - Missense
TTYH2ENSG00000141540ENST00000269346p.V23Fc.67G>TSubstitution - Missense
CCDC40ENSG00000141519ENST00000269318p.V565Ic.1693G>ASubstitution - Missense
GTPBP3ENSG00000130299ENST00000361619p.V72Vc.216G>TSubstitution - coding silent
MYH14ENSG00000105357ENST00000440075p.R1867Cc.5599C>TSubstitution - Missense
STRN4ENSG00000090372ENST00000391910p.V199Ac.596T>CSubstitution - Missense
LPIN1ENSG00000134324ENST00000449576p.D772Yc.2314G>TSubstitution - Missense
CEP68ENSG00000011523ENST00000537589p.S141Yc.422C>ASubstitution - Missense
NGLY1ENSG00000151092ENST00000428257p.?c.493-5A>GUnknown
ENST00000405167p.H1645Dc.4933C>GSubstitution - Missense
PAF1ENSG00000006712ENST00000595564p.A428_P429insAc.1283_1284insAGCInsertion - In frame
ATL2ENSG00000119787ENST00000378954p.?c.1128+2_1128+3insAGUnknown
SORCS2ENSG00000184985ENST00000507866p.V349Mc.1045G>ASubstitution - Missense
MYO10ENSG00000145555ENST00000513610p.S1976Sc.5928C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.S5104Tc.15311G>CSubstitution - Missense
HLA-DOAENSG00000204252ENST00000450833p.S91Ac.271T>GSubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.G3762Dc.11285G>ASubstitution - Missense
CBWD1ENSG00000172785ENST00000314367p.G108Ac.323G>CSubstitution - Missense
UTYENSG00000183878ENST00000329134p.L542Rc.1625T>GSubstitution - Missense
DIAPH2ENSG00000147202ENST00000373049p.P556Sc.1666C>TSubstitution - Missense
RGS12ENSG00000159788ENST00000344733p.A410Ac.1230C>TSubstitution - coding silent
EIF4A2ENSG00000156976ENST00000323963p.T395Ic.1184C>TSubstitution - Missense
UBAC2ENSG00000134882ENST00000376440p.I144Vc.430A>GSubstitution - Missense
SOAT2ENSG00000167780ENST00000301466p.G191fs*14c.569delGDeletion - Frameshift
LRRC32ENSG00000137507ENST00000260061p.P313Lc.938C>TSubstitution - Missense
MTA1ENSG00000182979ENST00000331320p.?c.1076+9G>TUnknown
ENST00000450802_v68p.F374Fc.1122C>TSubstitution - coding silent
SIK2ENSG00000170145ENST00000304987p.G460Ec.1379G>ASubstitution - Missense
MAST2ENSG00000086015ENST00000361297p.P1758Pc.5274A>GSubstitution - coding silent
SEC23AENSG00000100934ENST00000536508p.T35Kc.104C>ASubstitution - Missense
ENST00000344237p.R739Wc.2215C>TSubstitution - Missense
SGSM2ENSG00000141258ENST00000268989p.V774Mc.2320G>ASubstitution - Missense
SF3A1ENSG00000099995ENST00000215793p.?c.2209-7C>TUnknown
MFI2ENSG00000163975ENST00000296350p.?c.645-4G>AUnknown
ADAM22ENSG00000008277ENST00000265727p.A375Sc.1123G>TSubstitution - Missense
PNMAL1ENSG00000182013ENST00000313683p.T28Tc.84A>GSubstitution - coding silent
GPRC6AENSG00000173612ENST00000310357p.R257Sc.771A>CSubstitution - Missense
BST1ENSG00000109743ENST00000265016p.R125Sc.373C>ASubstitution - Missense
MYO19ENSG00000141140ENST00000431794p.L602Lc.1806G>ASubstitution - coding silent
PCDHAC2ENSG00000243232ENST00000289269p.Y521Yc.1563T>CSubstitution - coding silent
ENST00000400460p.A118Ac.354G>ASubstitution - coding silent
ARHGEF11ENSG00000132694ENST00000315174p.R690Wc.2068C>TSubstitution - Missense
ESYT1ENSG00000139641ENST00000541590p.S610Sc.1830A>TSubstitution - coding silent
ENST00000349637p.G3196Gc.9588G>ASubstitution - coding silent
FANCIENSG00000140525ENST00000300027p.T1019Tc.3057G>ASubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.K5263Ec.15787A>GSubstitution - Missense
SLKENSG00000065613ENST00000369755p.?c.2350-4T>GUnknown
NM_007365.1p.?c.1310+10G>TUnknown
GOLGA8IENSG00000153666ENST00000450802p.F374Fc.1122C>TSubstitution - coding silent
FLGENSG00000143631ENST00000368799p.S1906Sc.5718A>GSubstitution - coding silent
NM_015691.2p.T360Pc.1078A>CSubstitution - Missense
FAM178BENSG00000168754ENST00000417561p.K46Ec.136A>GSubstitution - Missense
FSCN2ENSG00000186765ENST00000334850p.T25fs*120c.72delGDeletion - Frameshift
NLRP7ENSG00000167634ENST00000448121p.E433Dc.1299G>CSubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.A1225Ac.3675G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.H2173Hc.6519C>TSubstitution - coding silent
UTYENSG00000183878ENST00000540140p.L539Rc.1616T>GSubstitution - Missense
KDM5DENSG00000012817ENST00000317961p.T284Ac.850A>GSubstitution - Missense
DSEENSG00000111817ENST00000331677p.M619Ic.1857G>TSubstitution - Missense
KCNV1ENSG00000164794ENST00000524391p.A80Dc.239C>ASubstitution - Missense
RIOK1ENSG00000124784ENST00000379834p.T259Ic.776C>TSubstitution - Missense
USP17L2ENSG00000223443ENST00000333796p.S337Sc.1011T>CSubstitution - coding silent
SVEP1ENSG00000165124ENST00000401783p.G1136Wc.3406G>TSubstitution - Missense
ENST00000275189p.R636Hc.1907G>ASubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.K912fs*>9c.2733delGDeletion - Frameshift
NF1ENSG00000196712ENST00000358273p.?c.2325+1G>AUnknown
DHX57ENSG00000163214ENST00000295373p.S757Lc.2270C>TSubstitution - Missense
THADAENSG00000115970ENST00000405975p.?c.4059+7C>TUnknown
KRT16ENSG00000186832ENST00000301653p.M370Vc.1108A>GSubstitution - Missense
KRT17ENSG00000128422ENST00000311208p.?c.834+5G>TUnknown
ABCC3ENSG00000108846ENST00000285238p.R1381Cc.4141C>TSubstitution - Missense
GFAPENSG00000131095ENST00000435360p.R413*c.1237C>TSubstitution - Nonsense
PRR11ENSG00000068489ENST00000262293p.?c.402+9T>CUnknown
PCDHGB4ENSG00000253953ENST00000519479p.A600Ac.1800C>TSubstitution - coding silent
CAMSAP1ENSG00000130559ENST00000389532p.Q71Hc.213G>TSubstitution - Missense
NOTCH1ENSG00000148400ENST00000277541p.N1070Nc.3210C>TSubstitution - coding silent
NOTCH1ENSG00000148400ENST00000277541p.N1070Nc.3210C>TSubstitution - coding silent
NM_014866.1p.A398Vc.1193C>TSubstitution - Missense
SEC16AENSG00000148396ENST00000313050p.P343Sc.1027C>TSubstitution - Missense
NM_014866.1p.P343Sc.1027C>TSubstitution - Missense
TMC1ENSG00000165091ENST00000297784p.I573Ic.1719C>ASubstitution - coding silent
TRAF2ENSG00000127191ENST00000536468p.P169Pc.507C>GSubstitution - coding silent
TRAF2ENSG00000127191ENST00000359662p.P221Pc.663C>GSubstitution - coding silent
C8GENSG00000176919ENST00000224181p.V108fs*21c.318_319delAGDeletion - Frameshift
ZNF185ENSG00000147394ENST00000535861p.P213Sc.637C>TSubstitution - Missense
PCDHA3ENSG00000255408ENST00000522353p.T426Tc.1278T>CSubstitution - coding silent
PCDHA3ENSG00000255408ENST00000522353p.A427Ac.1281T>ASubstitution - coding silent
ENST00000378129p.A427Ac.1281T>ASubstitution - coding silent
PSD2ENSG00000146005ENST00000274710p.S292Lc.875C>TSubstitution - Missense
PCDHB8ENSG00000120322ENST00000239444p.N360Nc.1080T>CSubstitution - coding silent
TCOF1ENSG00000070814ENST00000323668p.R1101Rc.3303G>ASubstitution - coding silent
PCDHB13ENSG00000187372ENST00000341948p.E287Dc.861A>TSubstitution - Missense
SCAND3ENSG00000232040ENST00000452236p.L384Lc.1150T>CSubstitution - coding silent
BPHLENSG00000137274ENST00000380375p.H13fs*10c.35delCDeletion - Frameshift
ZNF277ENSG00000198839ENST00000361822p.T6Tc.18C>ASubstitution - coding silent
LAMB1ENSG00000091136ENST00000222399p.V718Mc.2152G>ASubstitution - Missense
KCNH2ENSG00000055118ENST00000430723p.T319Tc.957C>TSubstitution - coding silent
PKD1L1ENSG00000158683ENST00000289672p.P1278Lc.3833C>TSubstitution - Missense
BRICD5ENSG00000182685ENST00000328540p.R135Wc.403C>TSubstitution - Missense
IL27RAENSG00000104998ENST00000263379p.?c.1717-3C>TUnknown
GTPBP3ENSG00000130299ENST00000358792p.V50Vc.150G>TSubstitution - coding silent
ESYT2ENSG00000117868ENST00000251527p.?c.1328+7A>TUnknown
MED15ENSG00000099917ENST00000292733p.V429Ic.1285G>ASubstitution - Missense
BCRENSG00000186716ENST00000305877p.P669Rc.2006C>GSubstitution - Missense
TOP3BENSG00000100038ENST00000357179p.V264Lc.790G>CSubstitution - Missense
XIRP2ENSG00000163092ENST00000409728p.?c.957+9A>GUnknown
ENST00000317826p.G296Ac.887G>CSubstitution - Missense
ENST00000599122p.R1229Hc.3686G>ASubstitution - Missense
GAPVD1ENSG00000165219ENST00000394105p.L1319Rc.3956T>GSubstitution - Missense
GMNCENSG00000205835ENST00000442080p.H285Hc.855T>CSubstitution - coding silent
FAM153BENSG00000182230ENST00000253490p.?c.862+5G>AUnknown
GPX8ENSG00000164294ENST00000503787p.R117Lc.350G>TSubstitution - Missense
VPS52ENSG00000223501ENST00000445902p.V176Vc.528G>TSubstitution - coding silent
CACNA1IENSG00000100346ENST00000400164p.N1539Nc.4617T>CSubstitution - coding silent
ART5ENSG00000167311ENST00000397067p.A113Vc.338C>TSubstitution - Missense
UBQLN3ENSG00000175520ENST00000311659p.E398Kc.1192G>ASubstitution - Missense
DTX4ENSG00000110042ENST00000227451p.R306Wc.916C>TSubstitution - Missense
DTX4ENSG00000110042ENST00000227451p.R200Wc.598C>TSubstitution - Missense
CDC14AENSG00000079335ENST00000361544p.T570Tc.1710C>TSubstitution - coding silent
CHD1LENSG00000131778ENST00000369258p.A503Sc.1507G>TSubstitution - Missense
ENST00000405167p.P3520Lc.10559C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P3520Lc.10559C>TSubstitution - Missense
KAT2BENSG00000114166ENST00000263754p.?c.1414-5C>AUnknown
RPL35AENSG00000182899ENST00000464167p.A12Tc.34G>ASubstitution - Missense
EPHA6ENSG00000080224ENST00000389672p.R766Pc.2297G>CSubstitution - Missense
SLC39A8ENSG00000138821ENST00000356736p.A397Ac.1191A>GSubstitution - coding silent
MEPEENSG00000152595ENST00000361056p.S227Sc.681A>CSubstitution - coding silent
TM2D2ENSG00000169490ENST00000412303p.L9Fc.27G>TSubstitution - Missense
IQSEC2ENSG00000124313ENST00000396435p.S1141Rc.3423C>ASubstitution - Missense
XM_291345.2p.S1138Rc.3414C>ASubstitution - Missense
CACNA1FENSG00000102001ENST00000376265p.S590fs*16c.1768_1771delTCTTDeletion - Frameshift
DNAH11ENSG00000105877ENST00000328843p.?c.7462-1G>TUnknown
ADAM22ENSG00000008277ENST00000398209p.A375Sc.1123G>TSubstitution - Missense
SEMA3DENSG00000153993ENST00000284136p.P748Lc.2243C>TSubstitution - Missense
CKAP2LENSG00000169607ENST00000302450p.C124Sc.371G>CSubstitution - Missense
SCTRENSG00000080293ENST00000019103p.F249delFc.746_748delTCTDeletion - In frame
LPIN1ENSG00000134324ENST00000256720p.D687Yc.2059G>TSubstitution - Missense
LPIN1ENSG00000134324ENST00000404113p.D188Yc.562G>TSubstitution - Missense
LIMS2ENSG00000072163ENST00000324938p.P98Lc.293C>TSubstitution - Missense
GLB1LENSG00000163521ENST00000295759p.V156Mc.466G>ASubstitution - Missense
CCDC108ENSG00000181378ENST00000341552p.K567Kc.1701G>ASubstitution - coding silent
DNERENSG00000187957ENST00000341772p.T333Tc.999T>GSubstitution - coding silent
XM_051221.5p.E522*c.1564G>TSubstitution - Nonsense
USP40ENSG00000085982ENST00000450966p.?c.1587-8C>GUnknown
USP40ENSG00000085982ENST00000450966p.?c.1587-8C>GUnknown
SPRED2ENSG00000198369ENST00000356388p.H89Hc.267T>CSubstitution - coding silent
CEP68ENSG00000011523ENST00000377990p.S529Yc.1586C>ASubstitution - Missense
CYP2D6ENSG00000100197ENST00000360608p.V327Vc.981G>ASubstitution - coding silent
CYP2D6ENSG00000100197ENST00000360608p.L178Lc.534G>ASubstitution - coding silent
CYP2D6ENSG00000100197ENST00000359033p.L127Lc.381G>ASubstitution - coding silent
CRELD2ENSG00000184164ENST00000328268p.?c.592+5G>AUnknown
SETD2ENSG00000181555ENST00000409792p.P1858Hc.5573C>ASubstitution - Missense
SETD2ENSG00000181555ENST00000330022p.P1355Hc.4064C>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.G3545Dc.10634G>ASubstitution - Missense
NM_001371.1p.G3545Dc.10634G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.R3620Qc.10859G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.M896Ic.2688G>TSubstitution - Missense
CBWD1ENSG00000172785ENST00000356521p.G144Ac.431G>CSubstitution - Missense
ARENSG00000169083ENST00000374690p.D354Ec.1062C>ASubstitution - Missense
ENST00000544984p.D164Ec.492C>ASubstitution - Missense
CYLC1ENSG00000183035ENST00000329312p.N386Tc.1157A>CSubstitution - Missense
PNMAL1ENSG00000182013ENST00000438932p.T28Tc.84A>GSubstitution - coding silent
HIF3AENSG00000124440ENST00000377670p.C163Sc.488G>CSubstitution - Missense
HIF3AENSG00000124440ENST00000420102p.C112Sc.335G>CSubstitution - Missense
VASPENSG00000125753ENST00000245932p.Q58Qc.174G>ASubstitution - coding silent
STRN4ENSG00000090372ENST00000263280p.V199Ac.596T>CSubstitution - Missense
TULP2ENSG00000104804ENST00000221399p.E63Qc.187G>CSubstitution - Missense
TBC1D24ENSG00000162065ENST00000567020p.P135Pc.405G>ASubstitution - coding silent
FLYWCH1ENSG00000059122ENST00000416288p.R374Cc.1120C>TSubstitution - Missense
ENST00000356328p.E195Dc.585A>CSubstitution - Missense
CCDC74AENSG00000163040ENST00000295171p.C241Rc.721T>CSubstitution - Missense
LCTENSG00000115850ENST00000264162p.R1787Qc.5360G>ASubstitution - Missense
SLC6A11ENSG00000132164ENST00000254488p.K628delKc.1880_1882delAGADeletion - In frame
BOCENSG00000144857ENST00000355385p.T425Ic.1274C>TSubstitution - Missense
TBC1D9ENSG00000109436ENST00000442267p.A290Ec.869C>ASubstitution - Missense
DCLK2ENSG00000170390ENST00000296550p.I45Ic.135C>ASubstitution - coding silent
KLKB1ENSG00000164344ENST00000264690p.G173Rc.517G>ASubstitution - Missense
KLKB1ENSG00000164344ENST00000264690p.G173Vc.518G>TSubstitution - Missense
MFSD10ENSG00000109736ENST00000355443p.F210Fc.630C>TSubstitution - coding silent
FAM172AENSG00000113391ENST00000395965p.M151Vc.451A>GSubstitution - Missense
SRPX2ENSG00000102359ENST00000373004p.R86Hc.257G>ASubstitution - Missense
CHMENSG00000188419ENST00000357749p.I419Vc.1255A>GSubstitution - Missense
UTYENSG00000183878ENST00000331397p.L542Rc.1625T>GSubstitution - Missense
UTYENSG00000183878ENST00000331397p.L542Rc.1625T>GSubstitution - Missense
ZNF484ENSG00000127081ENST00000375495p.Y256Yc.768C>TSubstitution - coding silent
CXorf57ENSG00000147231ENST00000372548p.Y844Cc.2531A>GSubstitution - Missense
GUCY2FENSG00000101890ENST00000218006p.P337Sc.1009C>TSubstitution - Missense
SEPT9ENSG00000184640ENST00000427180p.W20Lc.59G>TSubstitution - Missense
TK1ENSG00000167900ENST00000588734p.F177Yc.530T>ASubstitution - Missense
ZNF91ENSG00000167232ENST00000300619p.E991Ec.2973G>ASubstitution - coding silent
ANKRD27ENSG00000105186ENST00000306065p.R637Hc.1910G>ASubstitution - Missense
LSM14AENSG00000257103ENST00000544216p.?c.122-9T>CUnknown
ZNFX1ENSG00000124201ENST00000371754p.F1249Sc.3746T>CSubstitution - Missense
FANCGENSG00000221829ENST00000378643p.R573Tc.1718G>CSubstitution - Missense
GLIS3ENSG00000107249ENST00000324333p.?c.2192-4C>GUnknown
UHRF2ENSG00000147854ENST00000276893p.?c.1909-7C>TUnknown
ITIH3ENSG00000162267ENST00000449956p.G808Ec.2423G>ASubstitution - Missense
FAM208AENSG00000163946ENST00000355628p.Y482Yc.1446T>CSubstitution - coding silent
LOXL2ENSG00000134013ENST00000389131p.G465Gc.1395C>TSubstitution - coding silent
ESRP1ENSG00000104413ENST00000358397p.T474Ic.1421C>TSubstitution - Missense
CCDC180ENSG00000197816ENST00000375202p.E620*c.1858G>TSubstitution - Nonsense
EFCAB3ENSG00000172421ENST00000450662p.N391Kc.1173T>ASubstitution - Missense
CNTROBENSG00000170037ENST00000380262p.I753Nc.2258T>ASubstitution - Missense
FSCN2ENSG00000186765ENST00000334850p.T25fs*120c.72delGDeletion - Frameshift
MYOM1ENSG00000101605ENST00000356443p.A87Tc.259G>ASubstitution - Missense
RGL3ENSG00000205517ENST00000380456p.P607Lc.1820C>TSubstitution - Missense
CARM1ENSG00000142453ENST00000327064p.A594Ac.1782G>ASubstitution - coding silent
COL6A2ENSG00000142173ENST00000300527p.L976Sc.2927T>CSubstitution - Missense
FRG2CENSG00000172969ENST00000308062p.P8Tc.22C>ASubstitution - Missense
TMPRSS11FENSG00000198092ENST00000356291p.N397Sc.1190A>GSubstitution - Missense
NM_020777.1p.V199Mc.595G>ASubstitution - Missense
ZZEF1ENSG00000074755ENST00000381638p.L2000Lc.6000G>TSubstitution - coding silent
KRTAP13-1ENSG00000198390ENST00000355459p.S7Yc.20C>ASubstitution - Missense
DYRK1AENSG00000157540ENST00000398960p.Q675Hc.2025A>CSubstitution - Missense
NM_020418.2p.G282Gc.846C>ASubstitution - coding silent
STAB1ENSG00000010327ENST00000321725p.D2097Dc.6291C>TSubstitution - coding silent
HIST1H1CENSG00000187837ENST00000343677p.A18Ac.54C>TSubstitution - coding silent
TDP2ENSG00000111802ENST00000378198p.S60Sc.180C>TSubstitution - coding silent
ABT1ENSG00000146109ENST00000274849p.S208Sc.624C>GSubstitution - coding silent
PPP1R16AENSG00000160972ENST00000292539p.R81Qc.242G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.L2507Fc.7519C>TSubstitution - Missense
FABP9ENSG00000205186ENST00000379071p.S14Nc.41G>ASubstitution - Missense
ENSG00000173213ENST00000308911p.T107Tc.321A>CSubstitution - coding silent
ENST00000262719_v68p.A709Sc.2125G>TSubstitution - Missense
MALT1ENSG00000172175ENST00000348428p.P623Pc.1869G>ASubstitution - coding silent
ESCO1ENSG00000141446ENST00000269214p.S135Lc.404C>TSubstitution - Missense
CEP192ENSG00000101639ENST00000325971p.?c.280-9C>TUnknown
NLRP7ENSG00000167634ENST00000328092p.E433Dc.1299G>CSubstitution - Missense
PTPRHENSG00000080031ENST00000376350p.C242Cc.726C>TSubstitution - coding silent
ID1ENSG00000125968ENST00000376105p.H149Rc.446A>GSubstitution - Missense
DGCR2ENSG00000070413ENST00000263196p.R492Hc.1475G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.T28268Pc.84802A>CSubstitution - Missense
ENST00000356127p.T28266Pc.84796A>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.L25297Lc.75891C>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.L18925Lc.56775C>ASubstitution - coding silent
ENST00000356127p.L25295Lc.75885C>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.L18992Lc.56976C>ASubstitution - coding silent
NM_003319p.L18800Lc.56400C>ASubstitution - coding silent
AOX1ENSG00000138356ENST00000374700p.L75Qc.224T>ASubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.A1338Ac.4014G>ASubstitution - coding silent
ANKRD36ENSG00000135976ENST00000420699p.H1631Dc.4891C>GSubstitution - Missense
ANKRD36ENSG00000135976ENST00000461153p.H1434Dc.4300C>GSubstitution - Missense
ZNF778ENSG00000170100ENST00000306502p.M196Vc.586A>GSubstitution - Missense
ACSF3ENSG00000176715ENST00000317447p.V504Vc.1512G>ASubstitution - coding silent
SLCO4A1ENSG00000101187ENST00000370507p.F443delFc.1323_1325delCTTDeletion - In frame
GCKRENSG00000084734ENST00000264717p.?c.217-8C>TUnknown
PPM1GENSG00000115241ENST00000344034p.V426Lc.1276G>CSubstitution - Missense
ENST00000405167p.P3456Sc.10366C>TSubstitution - Missense
IGSF22ENSG00000179057ENST00000319338p.R429Cc.1285C>TSubstitution - Missense
NPATENSG00000149308ENST00000278612p.I737Ic.2211C>TSubstitution - coding silent
ABTB2ENSG00000166016ENST00000435224p.T378Nc.1133C>ASubstitution - Missense
NBPF4ENSG00000196427ENST00000415641p.A592Ac.1776C>GSubstitution - coding silent
GPR61ENSG00000156097ENST00000404129p.E421Ec.1263G>ASubstitution - coding silent
ADORA3ENSG00000121933ENST00000369716p.?c.457+9G>CUnknown
ADORA3ENSG00000121933ENST00000369717p.?c.214+9G>CUnknown
FMO5ENSG00000131781ENST00000254090p.E414Gc.1241A>GSubstitution - Missense
FMO5ENSG00000131781ENST00000441068p.E414Gc.1241A>GSubstitution - Missense
FMO5ENSG00000131781ENST00000254090p.E414Kc.1240G>ASubstitution - Missense
FMO5ENSG00000131781ENST00000441068p.E414Kc.1240G>ASubstitution - Missense
CFHENSG00000000971ENST00000367429p.A468Ac.1404C>TSubstitution - coding silent
ENST00000338282p.F242Fc.726C>TSubstitution - coding silent
DCLRE1CENSG00000152457ENST00000378246p.E347Vc.1040A>TSubstitution - Missense
CASC10ENSG00000204682ENST00000377113p.R88Rc.264C>TSubstitution - coding silent
ADAM21ENSG00000139985ENST00000267499p.I601Vc.1801A>GSubstitution - Missense
TGFB3ENSG00000119699ENST00000238682p.V317Vc.951G>ASubstitution - coding silent
BAIAP3ENSG00000007516ENST00000324385p.T286Mc.857C>TSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.L922Fc.2764C>TSubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.P928Lc.2783C>TSubstitution - Missense
SLC6A9ENSG00000196517ENST00000360584p.F585Sc.1754T>CSubstitution - Missense
WSB2ENSG00000176871ENST00000315436p.L97Mc.289C>ASubstitution - Missense
PRB2ENSG00000121335ENST00000389362p.R112*c.334C>TSubstitution - Nonsense
PRB2ENSG00000121335ENST00000389362p.R91*c.271C>TSubstitution - Nonsense
PRB1ENSG00000251655ENST00000500254p.P170Lc.509C>TSubstitution - Missense
WDR3ENSG00000065183ENST00000349139p.A484Ac.1452T>GSubstitution - coding silent
FCGR1BENSG00000198019ENST00000369384p.G278Ac.833G>CSubstitution - Missense
CGNENSG00000143375ENST00000271636p.G52Wc.154G>TSubstitution - Missense
FLGENSG00000143631ENST00000368799p.S1906Ac.5716T>GSubstitution - Missense
HEATR5AENSG00000129493ENST00000389961p.A1397Tc.4189G>ASubstitution - Missense
RALGAPA1ENSG00000174373ENST00000389698p.S715Lc.2144C>TSubstitution - Missense
ATG2BENSG00000066739ENST00000359933p.S1114Nc.3341G>ASubstitution - Missense
DNM1LENSG00000087470ENST00000553257p.L703Mc.2107C>ASubstitution - Missense
PGLYRP4ENSG00000163218ENST00000359650p.T354Ic.1061C>TSubstitution - Missense
TPM3ENSG00000143549ENST00000368533p.?c.384+7G>CUnknown
LRRN2ENSG00000170382ENST00000367175p.R255Wc.763C>TSubstitution - Missense
ADAM10ENSG00000137845ENST00000260408p.R77Gc.229A>GSubstitution - Missense
CGNL1ENSG00000128849ENST00000281282p.?c.2869-9T>AUnknown
NCOR2ENSG00000196498ENST00000405201p.?c.4073-6C>TUnknown
NM_006312.2p.?c.4094-6C>TUnknown
OR2T33ENSG00000177212ENST00000318021p.A231Gc.692C>GSubstitution - Missense
OR2L2ENSG00000203663ENST00000366479p.R226Hc.677G>ASubstitution - Missense
C1orf63ENSG00000117616ENST00000243189p.S54*c.161C>ASubstitution - Nonsense
PER3ENSG00000049246ENST00000361923p.M883Vc.2647A>GSubstitution - Missense
KTN1ENSG00000126777ENST00000416613p.T631Ac.1891A>GSubstitution - Missense
FAM181AENSG00000140067ENST00000267594p.R116Lc.347G>TSubstitution - Missense
PAQR5ENSG00000137819ENST00000395407p.A236Pc.706G>CSubstitution - Missense
NOX5ENSG00000255346ENST00000260364p.S633Rc.1899C>ASubstitution - Missense
PLCB2ENSG00000137841ENST00000260402p.K1046Nc.3138G>CSubstitution - Missense
PLCB2ENSG00000137841ENST00000260402p.K1046Nc.3138G>CSubstitution - Missense
MROH2BENSG00000171495ENST00000399564p.R1453Cc.4357C>TSubstitution - Missense
PKD1L2ENSG00000166473ENST00000337114p.S549Pc.1645T>CSubstitution - Missense
PKD1L2ENSG00000166473ENST00000525539p.S549Pc.1645T>CSubstitution - Missense
NECAB2ENSG00000103154ENST00000305202p.E301Kc.901G>ASubstitution - Missense
SP6ENSG00000189120ENST00000342234p.Q97Hc.291G>TSubstitution - Missense
NDUFAF5ENSG00000101247ENST00000378106p.L10Fc.30A>CSubstitution - Missense
APOBENSG00000084674ENST00000233242p.A2704Vc.8111C>TSubstitution - Missense
MOSENSG00000172680ENST00000311923p.G310Ec.929G>ASubstitution - Missense
DENND1CENSG00000205744ENST00000381480p.S566Tc.1697G>CSubstitution - Missense
DENND1CENSG00000205744ENST00000381480p.S592Tc.1775G>CSubstitution - Missense
DENND1CENSG00000205744ENST00000381480p.L546Lc.1638G>ASubstitution - coding silent
DENND1CENSG00000205744ENST00000381480p.L572Lc.1716G>ASubstitution - coding silent
TUBB4AENSG00000104833ENST00000264071p.A271Tc.811G>ASubstitution - Missense
ZNF484ENSG00000127081ENST00000375495p.E280Gc.839A>GSubstitution - Missense
NF1ENSG00000196712ENST00000358273p.?c.2325+1G>AUnknown
STRA6ENSG00000137868ENST00000395105p.Q35Qc.105G>ASubstitution - coding silent
UGT2B15ENSG00000196620ENST00000338206p.A398Ac.1194G>TSubstitution - coding silent
GRM8ENSG00000179603ENST00000339582p.Y725Cc.2174A>GSubstitution - Missense
METTL13ENSG00000010165ENST00000361735p.S114Lc.341C>TSubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.R647Qc.1940G>ASubstitution - Missense
MYH9ENSG00000100345ENST00000216181p.D1708Dc.5124C>TSubstitution - coding silent
IDO1ENSG00000131203ENST00000522495p.Q361*c.1081C>TSubstitution - Nonsense
SLC25A13ENSG00000004864ENST00000265631p.R585Cc.1753C>TSubstitution - Missense
GATA3ENSG00000107485ENST00000379328p.A396Tc.1186G>ASubstitution - Missense
TBK1ENSG00000183735ENST00000331710p.R724Cc.2170C>TSubstitution - Missense
TBK1ENSG00000183735ENST00000331710p.R724Cc.2170C>TSubstitution - Missense
COL7A1ENSG00000114270ENST00000328333p.R1814Hc.5441G>ASubstitution - Missense
SLC35G5ENSG00000177710ENST00000382435p.P18Pc.54G>ASubstitution - coding silent
PFKFB2ENSG00000123836ENST00000367079p.L265Fc.795G>CSubstitution - Missense
ESYT1ENSG00000139641ENST00000394048p.S600Sc.1800A>TSubstitution - coding silent
OR6C75ENSG00000187857ENST00000343399p.K296Rc.887A>GSubstitution - Missense
CSKENSG00000103653ENST00000220003p.M150Ic.450G>TSubstitution - Missense
KPNA3ENSG00000102753ENST00000261667p.S14Nc.41G>ASubstitution - Missense
CYSLTR2ENSG00000152207ENST00000282018p.K244Kc.732G>ASubstitution - coding silent
FOXN4ENSG00000139445ENST00000299162p.H385Hc.1155C>TSubstitution - coding silent
STYK1ENSG00000060140ENST00000075503p.D308Yc.922G>TSubstitution - Missense
TAS2R31ENSG00000256436ENST00000390675p.G92Cc.274G>TSubstitution - Missense
TBC1D4ENSG00000136111ENST00000377636p.P13Sc.37C>TSubstitution - Missense
KIF20BENSG00000138182ENST00000260753p.T154Sc.461C>GSubstitution - Missense
BTAF1ENSG00000095564ENST00000265990p.C939Rc.2815T>CSubstitution - Missense
CNTN5ENSG00000149972ENST00000524871p.E910*c.2728G>TSubstitution - Nonsense
MUC5BENSG00000117983ENST00000529681p.G2892Gc.8676C>TSubstitution - coding silent
ART5ENSG00000167311ENST00000397068p.A113Vc.338C>TSubstitution - Missense
ARHGEF11ENSG00000132694ENST00000368194p.R1314Wc.3940C>TSubstitution - Missense
PLBD1ENSG00000121316ENST00000240617p.R433*c.1297C>TSubstitution - Nonsense
KCNJ8ENSG00000121361ENST00000240662p.R274Cc.820C>TSubstitution - Missense
KCNH3ENSG00000135519ENST00000257981p.D830Dc.2490C>TSubstitution - coding silent
KRT5ENSG00000186081ENST00000252242p.G131Gc.393C>ASubstitution - coding silent
FANCIENSG00000140525ENST00000310775p.T1079Tc.3237G>ASubstitution - coding silent
OR10A6ENSG00000175393ENST00000309838p.P167Pc.501C>ASubstitution - coding silent
ENST00000368915p.Q2519Qc.7557G>ASubstitution - coding silent
DMBT1ENSG00000187908ENST00000368909p.Q2390Qc.7170G>ASubstitution - coding silent
DMBT1ENSG00000187908ENST00000368909p.Q2390Qc.7170G>ASubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.K233Ec.697A>GSubstitution - Missense
CEP170BENSG00000099814ENST00000414716p.N1442Nc.4326C>TSubstitution - coding silent
CEP170BENSG00000099814ENST00000556508p.N1407Nc.4221C>TSubstitution - coding silent
GMPR2ENSG00000100938ENST00000348719p.S315Nc.944G>ASubstitution - Missense
RNF31ENSG00000092098ENST00000324103p.N903Dc.2707A>GSubstitution - Missense
MS4A6AENSG00000110077ENST00000528851p.G56Cc.166G>TSubstitution - Missense
MS4A6AENSG00000110077ENST00000529054p.G84Cc.250G>TSubstitution - Missense
DAGLAENSG00000134780ENST00000257215p.A747Vc.2240C>TSubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.R1187Pc.3560G>CSubstitution - Missense
CCDC86ENSG00000110104ENST00000227520p.R269Qc.806G>ASubstitution - Missense
OR2AG1ENSG00000170803ENST00000307401p.R299Wc.895C>TSubstitution - Missense
VEZTENSG00000028203ENST00000436874p.R223Cc.667C>TSubstitution - Missense
ATRNL1ENSG00000107518ENST00000355044p.C731Yc.2192G>ASubstitution - Missense
ABCC2ENSG00000023839ENST00000370449p.Q1019Hc.3057G>TSubstitution - Missense
ARL3ENSG00000138175ENST00000260746p.P135Lc.404C>TSubstitution - Missense
NOLC1ENSG00000166197ENST00000370007p.S378delSc.1130_1132delCTTDeletion - In frame
SH3PXD2AENSG00000107957ENST00000355946p.P109Pc.327C>GSubstitution - coding silent
TMEM117ENSG00000139173ENST00000266534p.I121Vc.361A>GSubstitution - Missense
TMEM234ENSG00000160055ENST00000309777p.A28_R34delASAGLQRc.83_103del21Deletion - In frame
BAI2ENSG00000121753ENST00000373658p.G939Sc.2815G>ASubstitution - Missense
ENST00000563027_v68p.S553Fc.1658C>TSubstitution - Missense
FAN1ENSG00000198690ENST00000362065p.L715Lc.2143T>CSubstitution - coding silent
IGSF9ENSG00000085552ENST00000361509p.?c.248-4C>TUnknown
SLC25A34ENSG00000162461ENST00000294454p.Q132Hc.396A>CSubstitution - Missense
IGSF22ENSG00000179057ENST00000513874p.R429Cc.1285C>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