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H3255 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

651 mutations reported
208 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
OPRM1ENSG00000112038ENST00000414028p.R55Tc.164G>CSubstitution - Missense
AHRENSG00000106546ENST00000242057p.A524Sc.1570G>TSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.T187Kc.560C>ASubstitution - Missense
VCANENSG00000038427ENST00000265077p.E1865Gc.5594A>GSubstitution - Missense
GREB1ENSG00000196208ENST00000381486p.C88Wc.264C>GSubstitution - Missense
PHF8ENSG00000172943ENST00000322659p.T757Tc.2271C>ASubstitution - coding silent
PLCB1ENSG00000182621ENST00000338037p.P238Pc.714A>CSubstitution - coding silent
SIGLEC6ENSG00000105492ENST00000425629p.?c.1188+1G>TUnknown
ZNF267ENSG00000185947ENST00000300870p.L310Ic.928C>ASubstitution - Missense
MYOM2ENSG00000036448ENST00000262113p.R101*c.301C>TSubstitution - Nonsense
SLC9A8ENSG00000197818ENST00000361573p.F391Vc.1171T>GSubstitution - Missense
TTNENSG00000155657ENST00000360870p.M1187Ic.3561G>TSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000478060p.L1110Pc.3329T>CSubstitution - Missense
C8BENSG00000021852ENST00000371237p.T342fs*19c.1024delADeletion - Frameshift
LTKENSG00000062524ENST00000355166p.S728Sc.2184A>CSubstitution - coding silent
ZNF70ENSG00000187792ENST00000341976p.Q135*c.403C>TSubstitution - Nonsense
SHPKENSG00000197417ENST00000225519p.W422*c.1266G>ASubstitution - Nonsense
FBXO24ENSG00000106336ENST00000427939p.L50Fc.148C>TSubstitution - Missense
MGAT4BENSG00000161013ENST00000337755p.A446Ac.1338C>TSubstitution - coding silent
ZNF655ENSG00000197343ENST00000394163p.H321Yc.961C>TSubstitution - Missense
SEMA3GENSG00000010319ENST00000231721p.?c.1879-7A>GUnknown
SLC9A8ENSG00000197818ENST00000417961p.F407Vc.1219T>GSubstitution - Missense
C20orf194ENSG00000088854ENST00000252032p.?c.1783-8C>TUnknown
GJA8ENSG00000121634ENST00000369235p.D3Nc.7G>ASubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.Y1803Cc.5408A>GSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.S4097Pc.12289T>CSubstitution - Missense
CLN5ENSG00000102805ENST00000377453p.F111Ic.331T>ASubstitution - Missense
FOSL2ENSG00000075426ENST00000264716p.P86Lc.257C>TSubstitution - Missense
PLCB1ENSG00000182621ENST00000378641p.P238Pc.714A>CSubstitution - coding silent
RALYLENSG00000184672ENST00000522455p.R158Sc.472C>ASubstitution - Missense
SCGNENSG00000079689ENST00000377961p.A267Pc.799G>CSubstitution - Missense
BRWD1ENSG00000185658ENST00000342449p.D570Dc.1710T>CSubstitution - coding silent
ENST00000360228_v70p.L1701Pc.5102T>CSubstitution - Missense
RUFY4ENSG00000188282ENST00000344321p.A103Ac.309C>TSubstitution - coding silent
KCNC2ENSG00000166006ENST00000341669p.E136Kc.406G>ASubstitution - Missense
GP2ENSG00000169347ENST00000381362p.V486_P487insLc.1456_1457insTACInsertion - In frame
ENST00000369708p.E76*c.226G>TSubstitution - Nonsense
MYCBP2ENSG00000005810ENST00000357337p.V1098Ic.3292G>ASubstitution - Missense
ENST00000357934p.D264Dc.792C>TSubstitution - coding silent
ZNF451ENSG00000112200ENST00000357489p.F221Cc.662T>GSubstitution - Missense
CNBD2ENSG00000149646ENST00000349339p.R139Cc.415C>TSubstitution - Missense
ZNF479ENSG00000185177ENST00000331162p.R79Ic.236G>TSubstitution - Missense
ENST00000545858p.?c.281-1G>AUnknown
FAM120BENSG00000112584ENST00000537664p.R128Sc.384G>CSubstitution - Missense
PTK2BENSG00000120899ENST00000544172p.N883Sc.2648A>GSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000307431p.L1182Pc.3545T>CSubstitution - Missense
KANK4ENSG00000132854ENST00000371153p.Q348Hc.1044G>TSubstitution - Missense
KANK4ENSG00000132854ENST00000371153p.L37Lc.111G>CSubstitution - coding silent
LRFN5ENSG00000165379ENST00000298119p.A38Tc.112G>ASubstitution - Missense
NINENSG00000100503ENST00000382041p.Y1248_K1249>*c.3744_3746delTAAComplex - deletion inframe
KCNA6ENSG00000151079ENST00000280684p.E168Ec.504G>ASubstitution - coding silent
TSFMENSG00000123297ENST00000543727p.R31Kc.92G>ASubstitution - Missense
CYP4F22ENSG00000171954ENST00000269703p.M199Ic.597G>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.?c.560-1G>AUnknown
MAPKAPK5ENSG00000089022ENST00000551404p.?c.285-6A>CUnknown
PDE4DENSG00000113448ENST00000502484p.N553Kc.1659T>GSubstitution - Missense
WDR90ENSG00000161996ENST00000293879p.T1626Tc.4878C>ASubstitution - coding silent
DSTENSG00000151914ENST00000370769p.T2004Ic.6011C>TSubstitution - Missense
CSPG5ENSG00000114646ENST00000264723p.R398Sc.1194G>TSubstitution - Missense
NDC1ENSG00000058804ENST00000371429p.I642Mc.1926C>GSubstitution - Missense
PPFIBP1ENSG00000110841ENST00000228425p.N178Sc.533A>GSubstitution - Missense
BBOX1ENSG00000129151ENST00000263182p.S359Tc.1075T>ASubstitution - Missense
TNFRSF8ENSG00000120949ENST00000263932p.P132Pc.396G>ASubstitution - coding silent
CCDC88BENSG00000168071ENST00000356786p.A741Ac.2223T>CSubstitution - coding silent
CCNYENSG00000108100ENST00000374706p.L30Vc.88C>GSubstitution - Missense
NEBENSG00000183091ENST00000409198p.T3118Tc.9354G>ASubstitution - coding silent
EML5ENSG00000165521ENST00000352093p.F869Cc.2606T>GSubstitution - Missense
NEBENSG00000183091ENST00000409198p.E6016Gc.18047A>GSubstitution - Missense
NEBENSG00000183091ENST00000427231p.E389*c.1165G>TSubstitution - Nonsense
PEX6ENSG00000124587ENST00000304611p.F630Lc.1890T>ASubstitution - Missense
C22orf34ENSG00000188511ENST00000444628p.R105Kc.314G>ASubstitution - Missense
BCL6BENSG00000161940ENST00000293805p.P368Qc.1103C>ASubstitution - Missense
SLC4A7ENSG00000033867ENST00000455077p.S576Nc.1727G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.D300Yc.898G>TSubstitution - Missense
AGERENSG00000204305ENST00000438221p.?c.1013-1G>TUnknown
GREB1ENSG00000196208ENST00000381483p.C88Wc.264C>GSubstitution - Missense
CPNE9ENSG00000144550ENST00000383832p.K162delKc.481_483delAAGDeletion - In frame
PRMT2ENSG00000160310ENST00000334494p.V36Vc.108G>CSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.V17895Vc.53685C>TSubstitution - coding silent
ZMYND8ENSG00000101040ENST00000536340p.E1135Kc.3403G>ASubstitution - Missense
ATP8B3ENSG00000130270ENST00000525591p.S744*c.2231C>ASubstitution - Nonsense
KCTD7ENSG00000243335ENST00000275532p.R65Cc.193C>TSubstitution - Missense
PROKR1ENSG00000169618ENST00000303786p.F216Lc.646T>CSubstitution - Missense
UGT1A9ENSG00000241119ENST00000354728p.I275Mc.825C>GSubstitution - Missense
NLRP11ENSG00000179873ENST00000443188p.N813Sc.2438A>GSubstitution - Missense
CACNG7ENSG00000105605ENST00000391767p.E68Ec.204G>ASubstitution - coding silent
PRMT2ENSG00000160310ENST00000397637p.V36Vc.108G>CSubstitution - coding silent
EPHA3ENSG00000044524ENST00000336596p.R799Cc.2395C>TSubstitution - Missense
SLC19A1ENSG00000173638ENST00000311124p.G239Ec.716G>ASubstitution - Missense
ENST00000357018p.L1702Pc.5105T>CSubstitution - Missense
PLCXD3ENSG00000182836ENST00000377801p.L125Fc.373C>TSubstitution - Missense
KCNC2ENSG00000166006ENST00000549446p.E136Kc.406G>ASubstitution - Missense
BRSK2ENSG00000174672ENST00000308219p.I49Ic.147C>TSubstitution - coding silent
TXNRD1ENSG00000198431ENST00000503506p.L493Lc.1479C>TSubstitution - coding silent
DPY19L2ENSG00000177990ENST00000324472p.?c.710-6T>CUnknown
POLR3AENSG00000148606ENST00000372371p.N204Kc.612T>GSubstitution - Missense
SLC4A7ENSG00000033867ENST00000295736p.S695Nc.2084G>ASubstitution - Missense
ZNF841ENSG00000197608ENST00000389534p.L245Fc.733C>TSubstitution - Missense
ENST00000273600p.D811Dc.2433C>TSubstitution - coding silent
LTN1ENSG00000198862ENST00000361371p.D1370Gc.4109A>GSubstitution - Missense
ENST00000357018p.Q1674Kc.5020C>ASubstitution - Missense
TSR1ENSG00000167721ENST00000301364p.K547Rc.1640A>GSubstitution - Missense
SCN4AENSG00000007314ENST00000435607p.A265Vc.794C>TSubstitution - Missense
EFCAB5ENSG00000176927ENST00000394835p.G1117Ec.3350G>ASubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.E90Gc.269A>GSubstitution - Missense
MDGA2ENSG00000139915ENST00000399232p.K863Ec.2587A>GSubstitution - Missense
NINENSG00000100503ENST00000382041p.Y1248_K1249>*c.3744_3746delTAAComplex - deletion inframe
IQCCENSG00000160051ENST00000291358p.S289Lc.866C>TSubstitution - Missense
DUSP5ENSG00000138166ENST00000369583p.R74fs*56c.211_212delGCDeletion - Frameshift
SYT7ENSG00000011347ENST00000263846p.A338Tc.1012G>ASubstitution - Missense
TRAF3ENSG00000131323ENST00000560371p.V47Mc.139G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.A3377Dc.10130C>ASubstitution - Missense
WIPF1ENSG00000115935ENST00000272746p.P347Pc.1041G>ASubstitution - coding silent
PTPRFENSG00000142949ENST00000359947p.L1128Pc.3383T>CSubstitution - Missense
NM_015906p.Y974Hc.2920T>CSubstitution - Missense
DIP2BENSG00000066084ENST00000301180p.Q876Rc.2627A>GSubstitution - Missense
SP1ENSG00000185591ENST00000327443p.I554Tc.1661T>CSubstitution - Missense
TMEM72ENSG00000187783ENST00000389583p.L130Lc.388C>TSubstitution - coding silent
DCHS1ENSG00000166341ENST00000299441p.G62Gc.186C>TSubstitution - coding silent
NM_003319p.Q10185*c.30553C>TSubstitution - Nonsense
NEBENSG00000183091ENST00000427231p.E7717Gc.23150A>GSubstitution - Missense
WNK3ENSG00000196632ENST00000354646p.A536Tc.1606G>ASubstitution - Missense
C22orf34ENSG00000188511ENST00000405854p.R105Kc.314G>ASubstitution - Missense
BFSP1ENSG00000125864ENST00000377873p.*666Qc.1996T>CNonstop extension
RNH1ENSG00000023191ENST00000397604p.D47Yc.139G>TSubstitution - Missense
BLNKENSG00000095585ENST00000427367p.R106Rc.316A>CSubstitution - coding silent
NMUR2ENSG00000132911ENST00000255262p.F189Sc.566T>CSubstitution - Missense
ATP6V0A1ENSG00000033627ENST00000343619p.E107Kc.319G>ASubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.V4301Vc.12903G>ASubstitution - coding silent
KBTBD12ENSG00000187715ENST00000405109p.V327Vc.981T>CSubstitution - coding silent
MECP2ENSG00000169057ENST00000303391p.R478Wc.1432C>TSubstitution - Missense
PHF8ENSG00000172943ENST00000357988p.T810Tc.2430C>ASubstitution - coding silent
PHF8ENSG00000172943ENST00000338154p.T774Tc.2322C>ASubstitution - coding silent
ZNF513ENSG00000163795ENST00000323703p.R523Wc.1567C>TSubstitution - Missense
ZBTB14ENSG00000198081ENST00000357006p.A434Ac.1302G>ASubstitution - coding silent
DTHD1ENSG00000197057ENST00000357504p.K566Kc.1698A>GSubstitution - coding silent
ENST00000360228_v70p.Q1673Kc.5017C>ASubstitution - Missense
FASNENSG00000169710ENST00000306749p.W1811Gc.5431T>GSubstitution - Missense
ENST00000356127p.M1187Ic.3561G>TSubstitution - Missense
TSHZ3ENSG00000121297ENST00000240587p.T824Mc.2471C>TSubstitution - Missense
DMXL1ENSG00000172869ENST00000539542p.?c.1103-3T>CUnknown
RUFY4ENSG00000188282ENST00000374155p.A103Ac.309C>TSubstitution - coding silent
UNC80ENSG00000144406ENST00000439458p.?c.798+7T>GUnknown
ZCCHC8ENSG00000033030ENST00000336229p.A667Vc.2000C>TSubstitution - Missense
GLIPR1L1ENSG00000173401ENST00000312442p.P110Ac.328C>GSubstitution - Missense
DUSP5ENSG00000138166ENST00000369583p.R74fs*56c.211_212delGCDeletion - Frameshift
ENST00000202788p.?c.285-6A>CUnknown
TTNENSG00000155657ENST00000342992p.Q16682*c.50044C>TSubstitution - Nonsense
NM_020856.1p.T641Mc.1922C>TSubstitution - Missense
KIAA1324LENSG00000164659ENST00000297222p.D88Ec.264C>ASubstitution - Missense
PHF8ENSG00000172943ENST00000338946p.T673Tc.2019C>ASubstitution - coding silent
SCN1AENSG00000144285ENST00000303395p.L1634Vc.4900C>GSubstitution - Missense
PREX1ENSG00000124126ENST00000396220p.L1467Lc.4399C>TSubstitution - coding silent
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
IQGAP2ENSG00000145703ENST00000274364p.Q690Ec.2068C>GSubstitution - Missense
USP42ENSG00000106346ENST00000306177p.R1100Rc.3300T>CSubstitution - coding silent
XM_497119.1p.R1539Hc.4616G>ASubstitution - Missense
ABCA5ENSG00000154265ENST00000392676p.E449Kc.1345G>ASubstitution - Missense
XM_372202.2p.H137Yc.409C>TSubstitution - Missense
DTNBENSG00000138101ENST00000406818p.T468Sc.1403C>GSubstitution - Missense
EMILIN1ENSG00000138080ENST00000380320p.R706Sc.2116C>ASubstitution - Missense
BRWD1ENSG00000185658ENST00000333229p.D570Dc.1710T>CSubstitution - coding silent
C3ENSG00000125730ENST00000245907p.K1375Qc.4123A>CSubstitution - Missense
DCAF12L2ENSG00000198354ENST00000538699p.S300Yc.899C>ASubstitution - Missense
XRCC6ENSG00000196419ENST00000360079p.G138Rc.412G>ASubstitution - Missense
NFATC1ENSG00000131196ENST00000591814p.P66Pc.198G>TSubstitution - coding silent
ZNF736ENSG00000234444ENST00000355095p.F6Ic.16T>ASubstitution - Missense
OPRM1ENSG00000112038ENST00000229768p.R55Tc.164G>CSubstitution - Missense
OPRM1ENSG00000112038ENST00000360422p.R55Tc.164G>CSubstitution - Missense
ZFRENSG00000056097ENST00000265069p.A204Pc.610G>CSubstitution - Missense
MN1ENSG00000169184ENST00000302326p.A1226Tc.3676G>ASubstitution - Missense
MYLK3ENSG00000140795ENST00000394809p.A233Vc.698C>TSubstitution - Missense
SU_caMLCKp.A284Vc.851C>TSubstitution - Missense
PTK2BENSG00000120899ENST00000397501p.N883Sc.2648A>GSubstitution - Missense
KANK4ENSG00000132854ENST00000371153p.A593Sc.1777G>TSubstitution - Missense
ENST00000342887p.T681Rc.2042C>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.Q10377*c.31129C>TSubstitution - Nonsense
ENST00000356127p.Q16680*c.50038C>TSubstitution - Nonsense
PDE4DENSG00000113448ENST00000317118p.N323Kc.969T>GSubstitution - Missense
MYO1FENSG00000142347ENST00000338257p.F525Lc.1575C>ASubstitution - Missense
FAM129AENSG00000135842ENST00000367511p.K62Nc.186G>CSubstitution - Missense
TMEM63CENSG00000165548ENST00000298351p.V29Ic.85G>ASubstitution - Missense
MESP2ENSG00000188095ENST00000341735p.K254Nc.762G>TSubstitution - Missense
ANO6ENSG00000177119ENST00000425752p.A616Ac.1848A>CSubstitution - coding silent
NADSYN1ENSG00000172890ENST00000319023p.L229Lc.685C>TSubstitution - coding silent
BLNKENSG00000095585ENST00000224337p.R106Rc.316A>CSubstitution - coding silent
HS6ST3ENSG00000185352ENST00000376705p.V468Gc.1403T>GSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.A3234Dc.9701C>ASubstitution - Missense
OSBPL2ENSG00000130703ENST00000439951p.V147Ic.439G>ASubstitution - Missense
FAM193AENSG00000125386ENST00000324666p.?c.438+5G>CUnknown
WIPF1ENSG00000115935ENST00000409891p.P347Pc.1041G>ASubstitution - coding silent
TPH1ENSG00000129167ENST00000341556p.R51Qc.152G>ASubstitution - Missense
TXNRD1ENSG00000198431ENST00000427956p.L608Lc.1824C>TSubstitution - coding silent
RNF32ENSG00000105982ENST00000432459p.C165Fc.494G>TSubstitution - Missense
PPP1R26ENSG00000196422ENST00000356818p.R294Wc.880C>TSubstitution - Missense
USP6ENSG00000129204ENST00000250066p.R1138Ic.3413G>TSubstitution - Missense
DTNBENSG00000138101ENST00000288642p.T556Pc.1666A>CSubstitution - Missense
ANO6ENSG00000177119ENST00000441606p.A598Ac.1794A>CSubstitution - coding silent
SCN1AENSG00000144285ENST00000375405p.L1623Vc.4867C>GSubstitution - Missense
TRIM39ENSG00000204599ENST00000376656p.R238Qc.713G>ASubstitution - Missense
GALNT11ENSG00000178234ENST00000320311p.R543Rc.1629C>TSubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000354484p.H547Hc.1641C>TSubstitution - coding silent
SLIT2ENSG00000145147ENST00000504154p.F1354Yc.4061T>ASubstitution - Missense
AP4B1ENSG00000134262ENST00000369569p.H446Lc.1337A>TSubstitution - Missense
XPNPEP1ENSG00000108039ENST00000502935p.?c.311-3C>TUnknown
FBXO22ENSG00000167196ENST00000308275p.S273Sc.819G>ASubstitution - coding silent
GIT2ENSG00000139436ENST00000547815p.R142Ic.425G>TSubstitution - Missense
BRSK1ENSG00000160469ENST00000309383p.I88Ic.264C>TSubstitution - coding silent
FAM120BENSG00000112584ENST00000476287p.R105Sc.315G>CSubstitution - Missense
MSANTD1ENSG00000188981ENST00000438480p.R89Hc.266G>ASubstitution - Missense
FANCMENSG00000187790ENST00000267430p.S2046Yc.6137C>ASubstitution - Missense
C1orf127ENSG00000175262ENST00000377008p.L550Fc.1648C>TSubstitution - Missense
ZBTB17ENSG00000116809ENST00000375743p.P473Ac.1417C>GSubstitution - Missense
ANO6ENSG00000177119ENST00000425752p.L601Fc.1801C>TSubstitution - Missense
MRGPRDENSG00000172938ENST00000309106p.S270Sc.810C>TSubstitution - coding silent
FMN2ENSG00000155816ENST00000319653p.L1245Lc.3735A>TSubstitution - coding silent
TBC1D10CENSG00000175463ENST00000312390p.P427Sc.1279C>TSubstitution - Missense
OPRM1ENSG00000112038ENST00000435918p.R55Tc.164G>CSubstitution - Missense
AGERENSG00000204305ENST00000375067p.?c.810-1G>TUnknown
CSPG5ENSG00000114646ENST00000383738p.R398Sc.1194G>TSubstitution - Missense
PTPRSENSG00000105426ENST00000372412p.F1170Lc.3510C>GSubstitution - Missense
PTPRHENSG00000080031ENST00000376350p.C245Fc.734G>TSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.T1971Nc.5912C>ASubstitution - Missense
NEBENSG00000183091ENST00000409198p.E389*c.1165G>TSubstitution - Nonsense
C1orf127ENSG00000175262ENST00000377004p.L717Fc.2149C>TSubstitution - Missense
TSFMENSG00000123297ENST00000454289p.R31Kc.92G>ASubstitution - Missense
CLCN4ENSG00000073464ENST00000380833p.T728Mc.2183C>TSubstitution - Missense
PDE4DENSG00000113448ENST00000507116p.N550Kc.1650T>GSubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.A1914Ac.5742C>GSubstitution - coding silent
PAXIP1ENSG00000157212ENST00000404141p.?c.3134-3C>GUnknown
NOBOXENSG00000106410ENST00000223140p.D154Hc.460G>CSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.T2736Tc.8208C>TSubstitution - coding silent
F8ENSG00000185010ENST00000360256p.L646*c.1937T>ASubstitution - Nonsense
ZNF841ENSG00000197608ENST00000359973p.L129Fc.385C>TSubstitution - Missense
BOLLENSG00000152430ENST00000321801p.?c.766-1G>CUnknown
SLC12A4ENSG00000124067ENST00000541864p.C750Fc.2249G>TSubstitution - Missense
OR56B3PENSG00000180913ENST00000316517p.V206Ac.617T>CSubstitution - Missense
HIST1H2AIENSG00000196747ENST00000358739p.V31Lc.91G>CSubstitution - Missense
METTL3ENSG00000165819ENST00000377543p.E543Ec.1629G>ASubstitution - coding silent
DCDC2CENSG00000214866ENST00000399143p.D135Dc.405C>TSubstitution - coding silent
HDXENSG00000165259ENST00000297977p.?c.1306-8T>AUnknown
MEIS1ENSG00000143995ENST00000407092p.R203*c.607A>TSubstitution - Nonsense
GREB1ENSG00000196208ENST00000263834p.C88Wc.264C>GSubstitution - Missense
FAM47BENSG00000189132ENST00000329357p.H294Hc.882T>CSubstitution - coding silent
WRNENSG00000165392ENST00000298139p.P278Pc.834A>CSubstitution - coding silent
MYT1ENSG00000196132ENST00000536311p.E354Ec.1062G>ASubstitution - coding silent
NLRP12ENSG00000142405ENST00000345770p.Q974Lc.2921A>TSubstitution - Missense
ENST00000325084p.Q1674Kc.5020C>ASubstitution - Missense
AQP7ENSG00000165269ENST00000297988p.R35Rc.103C>ASubstitution - coding silent
SULF2ENSG00000196562ENST00000359930p.N177Nc.531C>TSubstitution - coding silent
HLA-BENSG00000234745ENST00000412585p.E69Ac.206A>CSubstitution - Missense
SIENSG00000090402ENST00000264382p.I1295Vc.3883A>GSubstitution - Missense
MAP3K4ENSG00000085511ENST00000392142p.S764Ic.2291G>TSubstitution - Missense
DTNBENSG00000138101ENST00000406818p.T556Pc.1666A>CSubstitution - Missense
SAMD9LENSG00000177409ENST00000318238p.S701Yc.2102C>ASubstitution - Missense
CACNA1AENSG00000141837ENST00000360228p.Q1673Kc.5017C>ASubstitution - Missense
ERN1ENSG00000178607ENST00000433197p.Y289Sc.866A>CSubstitution - Missense
RRBP1ENSG00000125844ENST00000377813p.E393Ec.1179A>GSubstitution - coding silent
ARHGAP5ENSG00000100852ENST00000345122p.V474Ic.1420G>ASubstitution - Missense
SLC36A4ENSG00000180773ENST00000326402p.R227Lc.680G>TSubstitution - Missense
TEDDM1ENSG00000203730ENST00000367565p.L92Lc.276G>ASubstitution - coding silent
SYT17ENSG00000103528ENST00000355377p.I139Mc.417C>GSubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.G411Vc.1232G>TSubstitution - Missense
GOLGA6L2ENSG00000174450ENST00000312015p.H587fs*32c.1760_1763delACACDeletion - Frameshift
ENST00000510439_v68p.S157Cc.470C>GSubstitution - Missense
GOLGA6L4ENSG00000184206ENST00000510439p.S157Cc.470C>GSubstitution - Missense
FAM24BENSG00000213185ENST00000368896p.A29Tc.85G>ASubstitution - Missense
SCN1AENSG00000144285ENST00000423058p.L1634Vc.4900C>GSubstitution - Missense
CERKENSG00000100422ENST00000216264p.?c.1542-2A>GUnknown
KIAA1324LENSG00000164659ENST00000450689p.D328Ec.984C>ASubstitution - Missense
NPSR1ENSG00000187258ENST00000381539p.F177Fc.531C>TSubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.T2879Tc.8637C>TSubstitution - coding silent
TRIM39ENSG00000204599ENST00000540416p.R238Qc.713G>ASubstitution - Missense
OPRM1ENSG00000112038ENST00000419506p.R55Tc.164G>CSubstitution - Missense
NISCHENSG00000010322ENST00000345716p.V861Lc.2581G>CSubstitution - Missense
PLXNA4ENSG00000221866ENST00000359827p.P134Lc.401C>TSubstitution - Missense
IQCCENSG00000160051ENST00000537469p.S369Lc.1106C>TSubstitution - Missense
TXNRD1ENSG00000198431ENST00000525566p.L643Lc.1929C>TSubstitution - coding silent
ENST00000341155p.V842Ic.2524G>ASubstitution - Missense
TMTC2ENSG00000179104ENST00000321196p.A134Sc.400G>TSubstitution - Missense
CXorf65ENSG00000204165ENST00000374251p.Y74Yc.222C>TSubstitution - coding silent
ACAD10ENSG00000111271ENST00000313698p.?c.2486-5G>AUnknown
MYCBP2ENSG00000005810ENST00000407578p.V1136Ic.3406G>ASubstitution - Missense
ISM2ENSG00000100593ENST00000342219p.R454Wc.1360C>TSubstitution - Missense
CXorf65ENSG00000204165ENST00000438526p.Y74Yc.222C>TSubstitution - coding silent
CNKSR2ENSG00000149970ENST00000279451p.E445Ec.1335A>GSubstitution - coding silent
AQP7ENSG00000165269ENST00000379507p.R34Rc.100C>ASubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000393061p.H656Hc.1968C>TSubstitution - coding silent
DCAF12L2ENSG00000198354ENST00000360028p.S300Yc.899C>ASubstitution - Missense
LLGL1ENSG00000131899ENST00000316843p.R734*c.2200C>TSubstitution - Nonsense
FAM179BENSG00000198718ENST00000361577p.S259Cc.776C>GSubstitution - Missense
MMP3ENSG00000149968ENST00000299855p.R316Hc.947G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.G411Vc.1232G>TSubstitution - Missense
CENPFENSG00000117724ENST00000366955p.V2538Vc.7614C>TSubstitution - coding silent
ENST00000356067p.D242Dc.726C>TSubstitution - coding silent
OR8H1ENSG00000181693ENST00000313022p.G95Dc.284G>ASubstitution - Missense
DIDO1ENSG00000101191ENST00000395335p.D865Gc.2594A>GSubstitution - Missense
CYP4F3ENSG00000186529ENST00000585846p.F445Vc.1333T>GSubstitution - Missense
RIF1ENSG00000080345ENST00000444746p.G2317Gc.6951C>GSubstitution - coding silent
AHRENSG00000106546ENST00000242057p.F523Fc.1569T>CSubstitution - coding silent
PTPRSENSG00000105426ENST00000357368p.F1169Lc.3507C>GSubstitution - Missense
ENST00000356127p.V24265Vc.72795C>TSubstitution - coding silent
THBS2ENSG00000186340ENST00000366787p.L1152Lc.3454C>TSubstitution - coding silent
ZNF451ENSG00000112200ENST00000370706p.F221Cc.662T>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.Q10310*c.30928C>TSubstitution - Nonsense
ENST00000314583_v70p.N376Tc.1127A>CSubstitution - Missense
SLC12A4ENSG00000124067ENST00000537830p.C775Fc.2324G>TSubstitution - Missense
OR8I2ENSG00000172154ENST00000302124p.C188Gc.562T>GSubstitution - Missense
BRSK2ENSG00000174672ENST00000308230p.I49Ic.147C>TSubstitution - coding silent
CCNYENSG00000108100ENST00000374704p.L84Vc.250C>GSubstitution - Missense
NPSR1ENSG00000187258ENST00000359791p.F177Fc.531C>TSubstitution - coding silent
OR9A2ENSG00000179468ENST00000350513p.A233Ac.699C>ASubstitution - coding silent
LRBAENSG00000198589ENST00000357115p.L849Rc.2546T>GSubstitution - Missense
GREB1ENSG00000196208ENST00000381483p.P295Lc.884C>TSubstitution - Missense
EHD3ENSG00000013016ENST00000322054p.A534Sc.1600G>TSubstitution - Missense
MAK16ENSG00000198042ENST00000360128p.S263Nc.788G>ASubstitution - Missense
CRYBB1ENSG00000100122ENST00000215939p.L208Lc.624A>GSubstitution - coding silent
DIDO1ENSG00000101191ENST00000395343p.D865Yc.2593G>TSubstitution - Missense
ATF4ENSG00000128272ENST00000396680p.R296Cc.886C>TSubstitution - Missense
SPHKAPENSG00000153820ENST00000392056p.C1347Cc.4041T>CSubstitution - coding silent
SLC12A4ENSG00000124067ENST00000316341p.C781Fc.2342G>TSubstitution - Missense
BCL6BENSG00000161940ENST00000293805p.P368Qc.1103C>ASubstitution - Missense
NLRP12ENSG00000142405ENST00000324134p.Q973Lc.2918A>TSubstitution - Missense
BBXENSG00000114439ENST00000325805p.S733Sc.2199C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.V24267Vc.72801C>TSubstitution - coding silent
NM_003319p.V17770Vc.53310C>TSubstitution - coding silent
SPAG11BENSG00000164871ENST00000398462p.R102Hc.305G>ASubstitution - Missense
ATP8B1ENSG00000081923ENST00000283684p.V997Mc.2989G>ASubstitution - Missense
MOB3CENSG00000142961ENST00000271139p.Y150Dc.448T>GSubstitution - Missense
GALNT16ENSG00000100626ENST00000337827p.P467Lc.1400C>TSubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.G416Vc.1247G>TSubstitution - Missense
PREX1ENSG00000124126ENST00000371941p.L1467Lc.4399C>TSubstitution - coding silent
ZMYND8ENSG00000101040ENST00000461685p.E1082Kc.3244G>ASubstitution - Missense
CYP4F3ENSG00000186529ENST00000221307p.F445Vc.1333T>GSubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.A1914Ac.5742C>GSubstitution - coding silent
ZSWIM4ENSG00000132003ENST00000254323p.A648Ac.1944G>ASubstitution - coding silent
STAG3ENSG00000066923ENST00000426455p.L1133Lc.3399G>ASubstitution - coding silent
NOBOXENSG00000106410ENST00000467773p.D154Hc.460G>CSubstitution - Missense
ENST00000539307p.T224Kc.671C>ASubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.T187Kc.560C>ASubstitution - Missense
TRIM39ENSG00000204599ENST00000376656p.R238Qc.713G>ASubstitution - Missense
HIST1H3IENSG00000182572ENST00000328488p.K57fs*24c.168_169insCInsertion - Frameshift
PCDHA7ENSG00000204963ENST00000525929p.N559Nc.1677C>TSubstitution - coding silent
PCDHA4ENSG00000204967ENST00000378125p.N559Nc.1677C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.?c.560-1G>AUnknown
ADAMTSL2ENSG00000197859ENST00000393061p.V980Vc.2940G>ASubstitution - coding silent
AQP7ENSG00000165269ENST00000539936p.R35Rc.103C>ASubstitution - coding silent
GFRALENSG00000187871ENST00000340465p.A329Ec.986C>ASubstitution - Missense
GCM1ENSG00000137270ENST00000259803p.E89Ec.267G>ASubstitution - coding silent
ITPR3ENSG00000096433ENST00000374316p.T1971Nc.5912C>ASubstitution - Missense
AGERENSG00000204305ENST00000375076p.?c.965-1G>TUnknown
RGS7BPENSG00000186479ENST00000334025p.R85Rc.255G>ASubstitution - coding silent
PDE4DENSG00000113448ENST00000340635p.N614Kc.1842T>GSubstitution - Missense
PDE4DENSG00000113448ENST00000405755p.N492Kc.1476T>GSubstitution - Missense
PDE4DENSG00000113448ENST00000503258p.N484Kc.1452T>GSubstitution - Missense
PDE4DENSG00000113448ENST00000360047p.N478Kc.1434T>GSubstitution - Missense
PDE4DENSG00000113448ENST00000360047p.N478Kc.1434T>GSubstitution - Missense
TKTL2ENSG00000151005ENST00000280605p.G470Ec.1409G>ASubstitution - Missense
OR1L4ENSG00000136939ENST00000259466p.T215Sc.643A>TSubstitution - Missense
TLR4ENSG00000136869ENST00000355622p.D194Dc.582C>TSubstitution - coding silent
FASTKD1ENSG00000138399ENST00000453153p.S353Nc.1058G>ASubstitution - Missense
SNAP29ENSG00000099940ENST00000215730p.L195Ic.583C>ASubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
NM_002847.2p.L314Lc.940C>TSubstitution - coding silent
PTPRN2ENSG00000155093ENST00000404321p.L337Lc.1009C>TSubstitution - coding silent
ENST00000367531p.E692Vc.2075A>TSubstitution - Missense
ZBTB17ENSG00000116809ENST00000375733p.P473Ac.1417C>GSubstitution - Missense
GLIPR1L1ENSG00000173401ENST00000378695p.P110Ac.328C>GSubstitution - Missense
TSFMENSG00000123297ENST00000323833p.R31Kc.92G>ASubstitution - Missense
ANO6ENSG00000177119ENST00000441606p.L583Fc.1747C>TSubstitution - Missense
GIT2ENSG00000139436ENST00000343646p.R142Ic.425G>TSubstitution - Missense
ACAD10ENSG00000111271ENST00000455480p.?c.2579-5G>AUnknown
OR8H1ENSG00000181693ENST00000313022p.L300Ic.898C>ASubstitution - Missense
NM_032681.1p.H229Hc.687C>TSubstitution - coding silent
ENST00000327733p.H388Hc.1164C>TSubstitution - coding silent
HBBENSG00000244734ENST00000335295p.T88Pc.262A>CSubstitution - Missense
KCNQ1ENSG00000053918ENST00000335475p.R274Rc.822G>TSubstitution - coding silent
GAD2ENSG00000136750ENST00000428517p.S13Sc.39G>ASubstitution - coding silent
USP6ENSG00000129204ENST00000304328p.R821Ic.2462G>TSubstitution - Missense
ATP6V0A1ENSG00000033627ENST00000264649p.E107Kc.319G>ASubstitution - Missense
GOLGA6L4ENSG00000184206ENST00000424966p.L2Vc.4C>GSubstitution - Missense
PTPRFENSG00000142949ENST00000422171p.L476Pc.1427T>CSubstitution - Missense
C22orf34ENSG00000188511ENST00000400023p.R106Kc.317G>ASubstitution - Missense
DIDO1ENSG00000101191ENST00000395335p.D865Yc.2593G>TSubstitution - Missense
C20orf194ENSG00000088854ENST00000453730p.?c.997-8C>TUnknown
BFSP1ENSG00000125864ENST00000377868p.*541Qc.1621T>CNonstop extension
RRBP1ENSG00000125844ENST00000377813p.K390Kc.1170A>GSubstitution - coding silent
EVC2ENSG00000173040ENST00000344938p.R698*c.2092C>TSubstitution - Nonsense
MUC12ENSG00000205277ENST00000379442p.T2871fs*13c.8610_8611delCADeletion - Frameshift
CPNE9ENSG00000144550ENST00000383831p.K162delKc.481_483delAAGDeletion - In frame
NINENSG00000100503ENST00000453196p.Y1248_K1249>*c.3744_3746delTAAComplex - deletion inframe
ANK2ENSG00000145362ENST00000506722p.N1760Kc.5280C>GSubstitution - Missense
PEX5LENSG00000114757ENST00000263962p.A590Dc.1769C>ASubstitution - Missense
ENST00000314583_v70p.N376Hc.1126A>CSubstitution - Missense
DTNBENSG00000138101ENST00000288642p.T468Sc.1403C>GSubstitution - Missense
GNA12ENSG00000146535ENST00000396960p.V69Ic.205G>ASubstitution - Missense
MAP3K4ENSG00000085511ENST00000392142p.S764Ic.2291G>TSubstitution - Missense
OPRM1ENSG00000112038ENST00000434900p.R148Tc.443G>CSubstitution - Missense
LATS1ENSG00000131023ENST00000253339p.*1131*c.3392A>GSubstitution - coding silent
LATS1ENSG00000131023ENST00000543571p.*1131*c.3392A>GSubstitution - coding silent
PDZD2ENSG00000133401ENST00000282493p.S2379Yc.7136C>ASubstitution - Missense
OR2V2ENSG00000182613ENST00000328275p.M165Ic.495G>ASubstitution - Missense
KIAA1109ENSG00000138688ENST00000264501p.S4120Sc.12360G>ASubstitution - coding silent
ANK2ENSG00000145362ENST00000357077p.N3854Kc.11562C>GSubstitution - Missense
LRRTM1ENSG00000162951ENST00000417012p.N171Nc.513C>TSubstitution - coding silent
LRRTM1ENSG00000162951ENST00000295057p.N171Nc.513C>TSubstitution - coding silent
CDIPTENSG00000103502ENST00000219789p.L107Lc.321G>CSubstitution - coding silent
ZNF431ENSG00000196705ENST00000311048p.R571Kc.1712G>ASubstitution - Missense
SLC25A42ENSG00000181035ENST00000318596p.R276Qc.827G>ASubstitution - Missense
ATP8B3ENSG00000130270ENST00000539485p.S791*c.2372C>ASubstitution - Nonsense
XM_374396.2p.R1200Rc.3600T>CSubstitution - coding silent
SCUBE1ENSG00000159307ENST00000360835p.I353Ic.1059C>TSubstitution - coding silent
KBTBD12ENSG00000187715ENST00000405256p.V327Vc.981T>CSubstitution - coding silent
ITGB5ENSG00000082781ENST00000296181p.H749Hc.2247C>TSubstitution - coding silent
HSPBAP1ENSG00000169087ENST00000306103p.?c.937-5C>AUnknown
MEIS1ENSG00000143995ENST00000272369p.R203*c.607A>TSubstitution - Nonsense
DSPENSG00000096696ENST00000379802p.A2148Sc.6442G>TSubstitution - Missense
TAAR5ENSG00000135569ENST00000258034p.P68Lc.203C>TSubstitution - Missense
ENST00000368454p.M61Ic.183G>ASubstitution - Missense
RANGAP1ENSG00000100401ENST00000356244p.?c.1484-8C>TUnknown
TRIOBPENSG00000100106ENST00000406386p.?c.5578-1G>CUnknown
TRIOBPENSG00000100106ENST00000407319p.?c.439-1G>CUnknown
NFATC1ENSG00000131196ENST00000329101p.P53Pc.159G>TSubstitution - coding silent
LAMA1ENSG00000101680ENST00000389658p.V56Mc.166G>ASubstitution - Missense
VCANENSG00000038427ENST00000265077p.S599Sc.1797A>TSubstitution - coding silent
FAM151BENSG00000152380ENST00000282226p.A75Sc.223G>TSubstitution - Missense
DMXL1ENSG00000172869ENST00000311085p.?c.1103-3T>CUnknown
FAM193AENSG00000125386ENST00000382839p.?c.438+5G>CUnknown
FHDC1ENSG00000137460ENST00000260008p.L754Mc.2260T>ASubstitution - Missense
HCLS1ENSG00000180353ENST00000314583p.N376Hc.1126A>CSubstitution - Missense
HCLS1ENSG00000180353ENST00000314583p.N376Tc.1127A>CSubstitution - Missense
ADPRHENSG00000144843ENST00000357003p.W289Lc.866G>TSubstitution - Missense
SLC35A5ENSG00000138459ENST00000492406p.S376Gc.1126A>GSubstitution - Missense
CD200R1LENSG00000206531ENST00000398214p.G202Vc.605G>TSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.T638Tc.1914T>CSubstitution - coding silent
MVPENSG00000013364ENST00000395353p.A576Tc.1726G>ASubstitution - Missense
SLC35A4ENSG00000176087ENST00000323146p.L64Lc.192A>GSubstitution - coding silent
MAGEA12ENSG00000213401ENST00000357916p.R125Qc.374G>ASubstitution - Missense
SPANXN2ENSG00000203924ENST00000370498p.A36Ac.108C>GSubstitution - coding silent
POLMENSG00000122678ENST00000242248p.P348Pc.1044T>CSubstitution - coding silent
UBE2D4ENSG00000078967ENST00000222402p.T11Ic.32C>TSubstitution - Missense
NME8ENSG00000086288ENST00000199447p.E355Gc.1064A>GSubstitution - Missense
POU6F2ENSG00000106536ENST00000403058p.F626Lc.1878T>GSubstitution - Missense
NPSR1ENSG00000187258ENST00000360581p.F177Fc.531C>TSubstitution - coding silent
PRUNE2ENSG00000106772ENST00000376718p.L318Ic.952C>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.V871Vc.2613G>ASubstitution - coding silent
SPINK1ENSG00000164266ENST00000296695p.I6Ic.18C>TSubstitution - coding silent
PEX5LENSG00000114757ENST00000467460p.A592Dc.1775C>ASubstitution - Missense
NLGN1ENSG00000169760ENST00000457714p.R280Hc.839G>ASubstitution - Missense
NLGN1ENSG00000169760ENST00000401917p.R320Hc.959G>ASubstitution - Missense
USP32ENSG00000170832ENST00000300896p.E1565Ec.4695G>ASubstitution - coding silent
LPOENSG00000167419ENST00000262290p.R319Rc.957C>ASubstitution - coding silent
STON1-GTF2A1LENSG00000068781ENST00000394754p.V1140Lc.3418G>CSubstitution - Missense
GTF2A1LENSG00000242441ENST00000508440p.V85Lc.253G>CSubstitution - Missense
ENST00000508440_v68p.V85Lc.253G>CSubstitution - Missense
NM_007349.2p.?c.3032-3C>GUnknown
RNF32ENSG00000105982ENST00000311822p.C165Fc.494G>TSubstitution - Missense
NEBENSG00000183091ENST00000397345p.E389*c.1165G>TSubstitution - Nonsense
NEBENSG00000183091ENST00000397345p.E7717Gc.23150A>GSubstitution - Missense
CALD1ENSG00000122786ENST00000361675p.E296*c.886G>TSubstitution - Nonsense
HIST1H1CENSG00000187837ENST00000343677p.K184Ec.550A>GSubstitution - Missense
NHLRC1ENSG00000187566ENST00000340650p.V143Gc.428T>GSubstitution - Missense
CAP2ENSG00000112186ENST00000229922p.V353Ac.1058T>CSubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.D811Dc.2433C>TSubstitution - coding silent
DTHD1ENSG00000197057ENST00000456874p.K731Kc.2193A>GSubstitution - coding silent
HTTENSG00000197386ENST00000355072p.?c.7765+6T>CUnknown
ENST00000341755p.R89Hc.266G>ASubstitution - Missense
SYNJ1ENSG00000159082ENST00000433931p.Y763Cc.2288A>GSubstitution - Missense
NM_003895.2p.Y724Cc.2171A>GSubstitution - Missense
PAXBP1ENSG00000159086ENST00000331923p.E533*c.1597G>TSubstitution - Nonsense
SCAF4ENSG00000156304ENST00000286835p.P723_F724insPc.2153_2154insTCCInsertion - In frame
NM_032217.3p.K1445Ec.4333A>GSubstitution - Missense
ZNF654ENSG00000175105ENST00000309495p.T375Ic.1124C>TSubstitution - Missense
OXTRENSG00000180914ENST00000316793p.W203Rc.607T>CSubstitution - Missense
FAM207AENSG00000160256ENST00000291634p.T100Tc.300C>GSubstitution - coding silent
KRTAP10-5ENSG00000241123ENST00000400372p.V191Fc.571G>TSubstitution - Missense
ENST00000325084p.L1702Pc.5105T>CSubstitution - Missense
CACNA1AENSG00000141837ENST00000360228p.L1701Pc.5102T>CSubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.F1023Yc.3068T>ASubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.F730Yc.2189T>ASubstitution - Missense
DSG4ENSG00000175065ENST00000359747p.M148Vc.442A>GSubstitution - Missense
DSG4ENSG00000175065ENST00000308128p.M148Vc.442A>GSubstitution - Missense
ZNF841ENSG00000197608ENST00000389534p.L245Fc.733C>TSubstitution - Missense
SIGLEC6ENSG00000105492ENST00000346477p.?c.1107+1G>TUnknown
MYH8ENSG00000133020ENST00000403437p.A387Ec.1160C>ASubstitution - Missense
BBXENSG00000114439ENST00000415149p.S733Sc.2199C>TSubstitution - coding silent
KIAA1524ENSG00000163507ENST00000295746p.Y190Fc.569A>TSubstitution - Missense
ING5ENSG00000168395ENST00000313552p.S51Fc.152C>TSubstitution - Missense
CYP20A1ENSG00000119004ENST00000356079p.C326Sc.976T>ASubstitution - Missense
BOLLENSG00000152430ENST00000392296p.?c.730-1G>CUnknown
TTNENSG00000155657ENST00000342175p.V17962Vc.53886C>TSubstitution - coding silent
WIPF1ENSG00000115935ENST00000392546p.P347Pc.1041G>ASubstitution - coding silent
IL17RAENSG00000177663ENST00000319363p.E186Kc.556G>ASubstitution - Missense
BRSK1ENSG00000160469ENST00000309383p.I88Ic.264C>TSubstitution - coding silent
RALYLENSG00000184672ENST00000522455p.R158Sc.472C>ASubstitution - Missense
ALMS1ENSG00000116127ENST00000264448p.K1132Kc.3396G>ASubstitution - coding silent
CMTM2ENSG00000140932ENST00000268595p.P141Tc.421C>ASubstitution - Missense
CDH8ENSG00000150394ENST00000577390p.A277Sc.829G>TSubstitution - Missense
SCN10AENSG00000185313ENST00000449082p.N812Tc.2435A>CSubstitution - Missense
NXNENSG00000167693ENST00000336868p.Y199Dc.595T>GSubstitution - Missense
DVL2ENSG00000004975ENST00000005340p.G279Dc.836G>ASubstitution - Missense
ZSCAN5DENSG00000267908ENST00000600684p.K255Qc.763A>CSubstitution - Missense
NLRP4ENSG00000160505ENST00000301295p.T889Mc.2666C>TSubstitution - Missense
NLRP4ENSG00000160505ENST00000587891p.T814Mc.2441C>TSubstitution - Missense
HUWE1ENSG00000086758ENST00000342160p.R1676Hc.5027G>ASubstitution - Missense
BMP15ENSG00000130385ENST00000252677p.F314Lc.942C>GSubstitution - Missense
TPTEENSG00000166157ENST00000361285p.K274Ec.820A>GSubstitution - Missense
TPTEENSG00000166157ENST00000298232p.K256Ec.766A>GSubstitution - Missense
MYT1ENSG00000196132ENST00000328439p.E354Ec.1062G>ASubstitution - coding silent
DIDO1ENSG00000101191ENST00000395343p.D865Gc.2594A>GSubstitution - Missense
NTSR1ENSG00000101188ENST00000370501p.V302Mc.904G>ASubstitution - Missense
OSBPL2ENSG00000130703ENST00000313733p.V239Ic.715G>ASubstitution - Missense
SPTBN1ENSG00000115306ENST00000356805p.M2234Rc.6701T>GSubstitution - Missense
HJURPENSG00000123485ENST00000411486p.M464Ic.1392G>ASubstitution - Missense
NMUR1ENSG00000171596ENST00000305141p.H206Hc.618C>TSubstitution - coding silent
TRIP12ENSG00000153827ENST00000283943p.E620Qc.1858G>CSubstitution - Missense
XM_051221.5p.C1347Cc.4041T>CSubstitution - coding silent
CXCR2ENSG00000180871ENST00000318507p.D143Yc.427G>TSubstitution - Missense
GREB1ENSG00000196208ENST00000381486p.P295Lc.884C>TSubstitution - Missense
GREB1ENSG00000196208ENST00000263834p.P295Lc.884C>TSubstitution - Missense
CNKSR2ENSG00000149970ENST00000379510p.E445Ec.1335A>GSubstitution - coding silent
F8ENSG00000185010ENST00000360256p.L646*c.1937T>ASubstitution - Nonsense
GNA12ENSG00000146535ENST00000275364p.V217Ic.649G>ASubstitution - Missense
DCLRE1AENSG00000198924ENST00000369305p.K668Ec.2002A>GSubstitution - Missense
ENST00000432996p.R840Hc.2519G>ASubstitution - Missense
MOB3CENSG00000142961ENST00000371940p.Y121Dc.361T>GSubstitution - Missense
CYP4X1ENSG00000186377ENST00000371901p.?c.493-9C>AUnknown
DUSP27ENSG00000198842ENST00000361200p.R1117Wc.3349C>TSubstitution - Missense
FLGENSG00000143631ENST00000368799p.D3420Gc.10259A>GSubstitution - Missense
PIP5K1AENSG00000143398ENST00000368888p.L165fs*4c.490_491insCInsertion - Frameshift
MAB21L3ENSG00000173212ENST00000369500p.R169Sc.505C>ASubstitution - Missense
TRIM33ENSG00000197323ENST00000358465p.Y974Hc.2920T>CSubstitution - Missense
SYCP1ENSG00000198765ENST00000369518p.?c.1529+5G>CUnknown
C12orf43ENSG00000157895ENST00000288757p.E28Ec.84G>ASubstitution - coding silent
ASB13ENSG00000196372ENST00000357700p.K261Nc.783G>TSubstitution - Missense
ENST00000417177p.G416Vc.1247G>TSubstitution - Missense
GALNT16ENSG00000100626ENST00000553669p.P467Lc.1400C>TSubstitution - Missense
MYO3AENSG00000095777ENST00000265944p.?c.2506-1G>AUnknown
GAD2ENSG00000136750ENST00000259271p.S13Sc.39G>ASubstitution - coding silent
ACSM2AENSG00000183747ENST00000396104p.Q363Ec.1087C>GSubstitution - Missense
ASPMENSG00000066279ENST00000367409p.Y1146Cc.3437A>GSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.R1522Cc.4564C>TSubstitution - Missense
KCNQ1ENSG00000053918ENST00000155840p.R401Rc.1203G>TSubstitution - coding silent
SLC24A4ENSG00000140090ENST00000532405p.P365Rc.1094C>GSubstitution - Missense
SLC24A4ENSG00000140090ENST00000298877p.P348Rc.1043C>GSubstitution - Missense
EML5ENSG00000165521ENST00000554922p.F907Cc.2720T>GSubstitution - Missense
LRRC7ENSG00000033122ENST00000035383p.G891Gc.2673C>TSubstitution - coding silent
TNFRSF25ENSG00000215788ENST00000377782p.C141Yc.422G>ASubstitution - Missense
KANK4ENSG00000132854ENST00000371153p.?c.17-7C>TUnknown
LYSMD2ENSG00000140280ENST00000267838p.Q167*c.499C>TSubstitution - Nonsense
FKBP4ENSG00000004478ENST00000001008p.P119Sc.355C>TSubstitution - Missense
PPFIBP1ENSG00000110841ENST00000318304p.N178Sc.533A>GSubstitution - Missense
NINENSG00000100503ENST00000245441p.Y1248_K1249>*c.3744_3746delTAAComplex - deletion inframe
MDGA2ENSG00000139915ENST00000426342p.K565Ec.1693A>GSubstitution - Missense
MDGA2ENSG00000139915ENST00000357362p.K565Ec.1693A>GSubstitution - Missense
ZCCHC11ENSG00000134744ENST00000257177p.V42Ic.124G>ASubstitution - Missense
CT47B1ENSG00000236446ENST00000371311p.V153Lc.457G>TSubstitution - Missense
VCPIP1ENSG00000175073ENST00000310421p.S65Sc.195T>ASubstitution - coding silent
YTHDF3ENSG00000185728ENST00000539294p.P82Rc.245C>GSubstitution - Missense
ENST00000281753p.?c.798+7T>GUnknown
ZDBF2ENSG00000204186ENST00000374423p.E90Gc.269A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.M1187Ic.3561G>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.M1141Ic.3423G>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.M1141Ic.3423G>TSubstitution - Missense
NM_003319p.M1141Ic.3423G>TSubstitution - Missense
RRBP1ENSG00000125844ENST00000377813p.K440Kc.1320G>ASubstitution - coding silent
RRBP1ENSG00000125844ENST00000377813p.A395Ac.1185C>TSubstitution - coding silent
OSMRENSG00000145623ENST00000274276p.L95Vc.283C>GSubstitution - Missense
LTKENSG00000062524ENST00000263800p.S789Sc.2367A>CSubstitution - coding silent
CUL4AENSG00000139842ENST00000375440p.N383Dc.1147A>GSubstitution - Missense
CUL4AENSG00000139842ENST00000375441p.N283Dc.847A>GSubstitution - Missense
EVLENSG00000196405ENST00000392920p.P168Qc.503C>ASubstitution - Missense
SNX1ENSG00000028528ENST00000559844p.S231delSc.684_686delTTCDeletion - In frame
GOSR1ENSG00000108587ENST00000225724p.R112Rc.336A>GSubstitution - coding silent
ERN1ENSG00000178607ENST00000433197p.Y289Sc.866A>CSubstitution - Missense
RNF133ENSG00000188050ENST00000340112p.Q231Ec.691C>GSubstitution - Missense
SYCP2ENSG00000196074ENST00000357552p.P586Qc.1757C>ASubstitution - Missense
LIM2ENSG00000105370ENST00000221973p.F193Lc.577T>CSubstitution - Missense
SNRNP70ENSG00000104852ENST00000221448p.S410Nc.1229G>ASubstitution - Missense
NFICENSG00000141905ENST00000443272p.T375Mc.1124C>TSubstitution - Missense
ARMCX1ENSG00000126947ENST00000372829p.G126Wc.376G>TSubstitution - Missense
DENND1CENSG00000205744ENST00000381480p.?c.678+1G>AUnknown
DENND1CENSG00000205744ENST00000381480p.?c.756+1G>AUnknown
TLR7ENSG00000196664ENST00000380659p.S827Sc.2481C>GSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.D300Yc.898G>TSubstitution - Missense
ENST00000532796p.L250Rc.749T>GSubstitution - Missense
ZNF655ENSG00000197343ENST00000424881p.H356Yc.1066C>TSubstitution - Missense
SH2D5ENSG00000189410ENST00000444387p.V64Ic.190G>ASubstitution - Missense
STK11IPENSG00000144589ENST00000295641p.S19Yc.56C>ASubstitution - Missense
STK11IPENSG00000144589ENST00000295641p.S19Yc.56C>ASubstitution - Missense
ENST00000426736p.S16Yc.47C>ASubstitution - Missense
EVC2ENSG00000173040ENST00000344408p.R698*c.2092C>TSubstitution - Nonsense
NEBENSG00000183091ENST00000397345p.T3361Tc.10083G>ASubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.T2728fs*13c.8181_8182delCADeletion - Frameshift
IFI44ENSG00000137965ENST00000370747p.L174Fc.522G>CSubstitution - Missense
RPAP1ENSG00000103932ENST00000304330p.A967Vc.2900C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.?c.560-1G>AUnknown
ENST00000414315p.?c.164-1G>AUnknown
ANO6ENSG00000177119ENST00000320560p.L601Fc.1801C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.?c.560-1G>AUnknown
EGFRENSG00000146648ENST00000275493p.L858Rc.2573T>GSubstitution - Missense
C10orf12ENSG00000155640ENST00000286067p.E299Qc.895G>CSubstitution - Missense
CYP2C19ENSG00000165841ENST00000371321p.?c.642+10A>GUnknown
ZBTB40ENSG00000184677ENST00000404138p.R294Kc.881G>ASubstitution - Missense
TMEM72ENSG00000187783ENST00000389583p.L130Lc.388C>TSubstitution - coding silent
NM_015057.1p.V1098Ic.3292G>ASubstitution - Missense
ATXN2ENSG00000204842ENST00000377617p.A719Ac.2157T>ASubstitution - coding silent
ENST00000428907p.?c.285-6A>CUnknown
GIT2ENSG00000139436ENST00000355312p.R142Ic.425G>TSubstitution - Missense
OR6C4ENSG00000179626ENST00000394256p.R62Qc.185G>ASubstitution - Missense
NCKAP1LENSG00000123338ENST00000293373p.S229Sc.687C>TSubstitution - coding silent
CR2ENSG00000117322ENST00000367057p.G540Rc.1618G>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.?c.560-1G>AUnknown
NEBENSG00000183091ENST00000427231p.T3361Tc.10083G>ASubstitution - coding silent
RPS5ENSG00000083845ENST00000196551p.E98Kc.292G>ASubstitution - Missense
OR4D11ENSG00000176200ENST00000313253p.S242Sc.726C>TSubstitution - coding silent
OR1S1ENSG00000172774ENST00000309433p.G270Sc.808G>ASubstitution - Missense
METTL17ENSG00000165792ENST00000382985p.M1Lc.1A>CSubstitution - Missense
METTL17ENSG00000165792ENST00000339374p.M1Lc.1A>CSubstitution - Missense
RSF1ENSG00000048649ENST00000308488p.S1364Tc.4091G>CSubstitution - Missense
PAK1ENSG00000149269ENST00000278568p.V518Lc.1552G>CSubstitution - Missense
WDR93ENSG00000140527ENST00000268130p.H236Lc.707A>TSubstitution - Missense
MEX3BENSG00000183496ENST00000329713p.F241Vc.721T>GSubstitution - Missense
ACSBG1ENSG00000103740ENST00000258873p.S159Sc.477T>CSubstitution - coding silent
KRT6BENSG00000185479ENST00000252252p.G46Sc.136G>ASubstitution - Missense
GALNT8ENSG00000130035ENST00000252318p.E387Vc.1160A>TSubstitution - Missense
ENST00000279593p.R712Mc.2135G>TSubstitution - Missense
STAC3ENSG00000185482ENST00000332782p.?c.996+3A>GUnknown
OR52R1ENSG00000176937ENST00000380382p.I393Lc.1177A>CSubstitution - Missense
ENST00000402751p.T265Tc.795T>GSubstitution - coding silent
PAFAH1B2ENSG00000168092ENST00000527958p.I118Ic.354C>TSubstitution - coding silent
KCNC2ENSG00000166006ENST00000298972p.E136Kc.406G>ASubstitution - Missense
RGL1ENSG00000143344ENST00000304685p.E692Vc.2075A>TSubstitution - Missense
UEVLDENSG00000151116ENST00000396197p.F44Sc.131T>CSubstitution - Missense
UEVLDENSG00000151116ENST00000543987p.F44Sc.131T>CSubstitution - Missense
TPH1ENSG00000129167ENST00000250018p.R51Qc.152G>ASubstitution - Missense
BRSK2ENSG00000174672ENST00000382179p.I95Ic.285C>TSubstitution - coding silent
SU_BRSK2p.I49Ic.147C>TSubstitution - coding silent
IGSF8ENSG00000162729ENST00000368086p.E394Qc.1180G>CSubstitution - Missense
GABRA5ENSG00000186297ENST00000335625p.M247Kc.740T>ASubstitution - Missense
KIFAP3ENSG00000075945ENST00000361580p.A733Dc.2198C>ASubstitution - Missense
KIFAP3ENSG00000075945ENST00000538366p.A655Dc.1964C>ASubstitution - Missense
SMAD9ENSG00000120693ENST00000379826p.S256Sc.768G>CSubstitution - coding silent
ANO6ENSG00000177119ENST00000320560p.A616Ac.1848A>CSubstitution - coding silent
HCFC2ENSG00000111727ENST00000229330p.E384Qc.1150G>CSubstitution - Missense
XPNPEP1ENSG00000108039ENST00000369680p.?c.182-3C>TUnknown
COL17A1ENSG00000065618ENST00000353479p.Y1337Yc.4011T>CSubstitution - coding silent
INPP5FENSG00000198825ENST00000361976p.R69Qc.206G>ASubstitution - Missense
INPP5FENSG00000198825ENST00000369083p.R69Qc.206G>ASubstitution - Missense
XM_048898.8p.G1251Gc.3753G>CSubstitution - coding silent
WDR37ENSG00000047056ENST00000358220p.L425Lc.1275C>TSubstitution - coding silent


COSMIC

0 mutations reported
0 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID