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TE-12 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

849 mutations reported
340 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
FAM9CENSG00000187268ENST00000380625p.?c.439-4C>GUnknown
MAGI1ENSG00000151276ENST00000402939p.V1047Vc.3141G>ASubstitution - coding silent
ENST00000344237p.P536Ac.1606C>GSubstitution - Missense
ZNF395ENSG00000186918ENST00000344423p.G213Sc.637G>ASubstitution - Missense
KIF3CENSG00000084731ENST00000264712p.G233Sc.697G>ASubstitution - Missense
NAA11ENSG00000156269ENST00000286794p.E132Kc.394G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.S2774Cc.8321C>GSubstitution - Missense
TMEM181ENSG00000146433ENST00000367090p.M340Tc.1019T>CSubstitution - Missense
TXLNBENSG00000164440ENST00000358430p.D600Yc.1798G>TSubstitution - Missense
PROCENSG00000115718ENST00000234071p.F10Lc.30C>GSubstitution - Missense
NAPEPLDENSG00000161048ENST00000341533p.L130Mc.388C>ASubstitution - Missense
PCDH12ENSG00000113555ENST00000231484p.D270Dc.810C>TSubstitution - coding silent
ENST00000450194p.?c.3103-4G>AUnknown
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
RNF44ENSG00000146083ENST00000274811p.S143Gc.427A>GSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.S3482Ic.10445G>TSubstitution - Missense
THNSL2ENSG00000144115ENST00000343544p.A10Ac.30C>TSubstitution - coding silent
LPHN3ENSG00000150471ENST00000507625p.S234Cc.701C>GSubstitution - Missense
SLC30A3ENSG00000115194ENST00000447008p.E208Qc.622G>CSubstitution - Missense
ENST00000360660p.E619Kc.1855G>ASubstitution - Missense
ENST00000404496p.P488Lc.1463C>TSubstitution - Missense
ENST00000318252p.R132Rc.396G>ASubstitution - coding silent
ENST00000311566p.I33Tc.98T>CSubstitution - Missense
ELMO3ENSG00000102890ENST00000393997p.L601Lc.1803C>TSubstitution - coding silent
SMPD3ENSG00000103056ENST00000219334p.T279Mc.836C>TSubstitution - Missense
ATG12ENSG00000145782ENST00000274459p.Y167Sc.500A>CSubstitution - Missense
ADAM22ENSG00000008277ENST00000265727p.G61Gc.183C>GSubstitution - coding silent
IQSEC1ENSG00000144711ENST00000429247p.R952Qc.2855G>ASubstitution - Missense
IGLL1ENSG00000128322ENST00000330377p.G75Sc.223G>ASubstitution - Missense
ATP6V1G1ENSG00000136888ENST00000374050p.?c.82+1_83-1del4631Unknown
MTHFD1ENSG00000100714ENST00000216605p.?c.1431_1433-3del2710Unknown
OR4C13ENSG00000258817ENST00000555099p.N6Dc.16A>GSubstitution - Missense
SLITRK1ENSG00000178235ENST00000377084p.K650Ec.1948A>GSubstitution - Missense
SP7ENSG00000170374ENST00000536324p.L358Lc.1074C>GSubstitution - coding silent
SERPINH1ENSG00000149257ENST00000533603p.I370Ic.1110C>ASubstitution - coding silent
OR6N2ENSG00000188340ENST00000339258p.E159Kc.475G>ASubstitution - Missense
CCND1ENSG00000110092ENST00000227507p.P287Ac.859C>GSubstitution - Missense
C2CD3ENSG00000168014ENST00000313663p.S563Ic.1688G>TSubstitution - Missense
SUCOENSG00000094975ENST00000367723p.V30Mc.88G>ASubstitution - Missense
CEP57ENSG00000166037ENST00000325542p.N461Tc.1382A>CSubstitution - Missense
ZC2HC1CENSG00000119703ENST00000524913p.M16fs*5c.45_46insAInsertion - Frameshift
FAF1ENSG00000185104ENST00000396153p.E308Ec.924A>GSubstitution - coding silent
MYO5CENSG00000128833ENST00000261839p.E1656Kc.4966G>ASubstitution - Missense
USP1ENSG00000162607ENST00000371146p.L564Lc.1692A>GSubstitution - coding silent
MTHFD1ENSG00000100714ENST00000555709p.?c.1596_1598-3del3424Unknown
MTHFD1ENSG00000100714ENST00000555709p.?c.2456_2458-3del4131Unknown
TENM1ENSG00000009694ENST00000371130p.R1955Qc.5864G>ASubstitution - Missense
MBOAT2ENSG00000143797ENST00000305997p.L461Sc.1382T>CSubstitution - Missense
ENST00000328585_v65p.F160Fc.480C>TSubstitution - coding silent
SLC47A1ENSG00000142494ENST00000270570p.G91Sc.271G>ASubstitution - Missense
AKAP9ENSG00000127914ENST00000356239p.M1879Tc.5636T>CSubstitution - Missense
ENST00000354247p.Q384Pc.1151A>CSubstitution - Missense
SLC12A4ENSG00000124067ENST00000316341p.C162Yc.485G>ASubstitution - Missense
ADAM22ENSG00000008277ENST00000398209p.G61Gc.183C>GSubstitution - coding silent
SLC20A1ENSG00000144136ENST00000272542p.S97Sc.291G>TSubstitution - coding silent
DUS2ENSG00000167264ENST00000358896p.Q305Rc.914A>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.S2774Cc.8321C>GSubstitution - Missense
GTF3C1ENSG00000077235ENST00000356183p.N1549Yc.4645A>TSubstitution - Missense
CXCR6ENSG00000172215ENST00000438735p.V43Vc.129C>TSubstitution - coding silent
WDR87ENSG00000171804ENST00000303868p.R791Cc.2371C>TSubstitution - Missense
GOLIM4ENSG00000173905ENST00000470487p.Q119*c.355C>TSubstitution - Nonsense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
ARHGEF1ENSG00000076928ENST00000337665p.?c.2450-9C>TUnknown
TP53ENSG00000141510ENST00000420246p.?c.375+1G>AUnknown
SPINT1ENSG00000166145ENST00000344051p.C129Cc.387C>TSubstitution - coding silent
KIF21BENSG00000116852ENST00000422435p.I344Ic.1032C>ASubstitution - coding silent
MERTKENSG00000153208ENST00000295408p.P252Pc.756A>CSubstitution - coding silent
SLC12A4ENSG00000124067ENST00000537830p.C156Yc.467G>ASubstitution - Missense
MYD88ENSG00000172936ENST00000417037p.S28Fc.83C>TSubstitution - Missense
MAPK8IP3ENSG00000138834ENST00000250894p.D1209Nc.3625G>ASubstitution - Missense
CDH3ENSG00000062038ENST00000264012p.Y823Yc.2469C>TSubstitution - coding silent
TTC14ENSG00000163728ENST00000296015p.I722Mc.2166C>GSubstitution - Missense
KRT8ENSG00000170421ENST00000293308p.T468Ic.1403C>TSubstitution - Missense
POLR3BENSG00000013503ENST00000228347p.?c.1856+6T>CUnknown
TENM4ENSG00000149256ENST00000278550p.C341Cc.1023C>TSubstitution - coding silent
SYNMENSG00000182253ENST00000328642p.R472Qc.1415G>ASubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.C1453Yc.4358G>ASubstitution - Missense
ENST00000266524p.V1328Ic.3982G>ASubstitution - Missense
CCDC89ENSG00000179071ENST00000316398p.R207Lc.620G>TSubstitution - Missense
CCDC18ENSG00000122483ENST00000334652p.R1226Rc.3678G>ASubstitution - coding silent
MCF2LENSG00000126217ENST00000375601p.L299Lc.897C>TSubstitution - coding silent
MTHFD1ENSG00000100714ENST00000555709p.?c.239_241-3del2832Unknown
ENST00000456564p.A1035_P1038delALPPc.3102_3113del12Deletion - In frame
OPN4ENSG00000122375ENST00000443292p.H365Rc.1094A>GSubstitution - Missense
DGKHENSG00000102780ENST00000379274p.?c.321+8G>CUnknown
PMFBP1ENSG00000118557ENST00000355636p.A351Tc.1051G>ASubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.A3159Vc.9476C>TSubstitution - Missense
SLC4A10ENSG00000144290ENST00000375514p.V337Ic.1009G>ASubstitution - Missense
SORDENSG00000140263ENST00000267814p.G152Gc.456C>TSubstitution - coding silent
SSH1ENSG00000084112ENST00000326495p.R144*c.430C>TSubstitution - Nonsense
FRYENSG00000073910ENST00000380250p.I434Tc.1301T>CSubstitution - Missense
UHRF1BP1LENSG00000111647ENST00000356828p.S354Sc.1062T>ASubstitution - coding silent
CEP350ENSG00000135837ENST00000367607p.C1453Yc.4358G>ASubstitution - Missense
RICTORENSG00000164327ENST00000296782p.?c.2344-7C>GUnknown
TOE1ENSG00000132773ENST00000372090p.R340*c.1018C>TSubstitution - Nonsense
ZBTB33ENSG00000177485ENST00000326624p.A349Ac.1047C>TSubstitution - coding silent
FOXK2ENSG00000141568ENST00000335255p.?c.612_615-4del4505Unknown
THNSL2ENSG00000144115ENST00000324166p.A10Ac.30C>TSubstitution - coding silent
MST1ENSG00000173531ENST00000449682p.R535fs*37c.1603delCDeletion - Frameshift
RIMBP3ENSG00000196622ENST00000426804p.R1062Qc.3185G>ASubstitution - Missense
NEFHENSG00000100285ENST00000310624p.K749Ec.2245A>GSubstitution - Missense
ABCB5ENSG00000004846ENST00000258738p.V604Ac.1811T>CSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.G919Rc.2755G>CSubstitution - Missense
FBXW7ENSG00000109670ENST00000296555p.H302Yc.904C>TSubstitution - Missense
XM_499251.1p.?c.502-4G>AUnknown
ENST00000544403p.E786_C787ins*c.2356_2357insAATInsertion - In frame
ITFG2ENSG00000111203ENST00000542548p.T316Mc.947C>TSubstitution - Missense
SCAF8ENSG00000213079ENST00000367186p.?c.313-10C>TUnknown
FAT3ENSG00000165323ENST00000409404p.Q3578*c.10732C>TSubstitution - Nonsense
KRT8ENSG00000170421ENST00000293308p.?c.1202+2_1203del159Unknown
MYH7ENSG00000092054ENST00000355349p.G1154Cc.3460G>TSubstitution - Missense
RAD51BENSG00000182185ENST00000488612p.E346Gc.1037A>GSubstitution - Missense
MDGA2ENSG00000139915ENST00000426342p.S588Sc.1764C>TSubstitution - coding silent
ZDHHC7ENSG00000153786ENST00000313732p.?c.538-8C>TUnknown
COL4A6ENSG00000197565ENST00000394872p.Q974Ec.2920C>GSubstitution - Missense
CSPP1ENSG00000104218ENST00000262210p.D16Yc.46G>TSubstitution - Missense
GDF5ENSG00000125965ENST00000374369p.T444Mc.1331C>TSubstitution - Missense
SLC13A1ENSG00000081800ENST00000194130p.L479Fc.1437G>CSubstitution - Missense
ENST00000428290_v65p.T252Ic.755C>TSubstitution - Missense
SLC30A3ENSG00000115194ENST00000233535p.E213Qc.637G>CSubstitution - Missense
AUP1ENSG00000115307ENST00000377526p.L188Vc.562C>GSubstitution - Missense
XRN1ENSG00000114127ENST00000264951p.E227*c.679G>TSubstitution - Nonsense
FBXO24ENSG00000106336ENST00000427939p.R175Cc.523C>TSubstitution - Missense
DAPK1ENSG00000196730ENST00000408954p.G807Gc.2421C>TSubstitution - coding silent
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
ZNF229ENSG00000167383ENST00000291187p.E716Ec.2148A>GSubstitution - coding silent
PLA2R1ENSG00000153246ENST00000283243p.Q1336Hc.4008G>CSubstitution - Missense
PHYHD1ENSG00000175287ENST00000308941p.P135Pc.405C>ASubstitution - coding silent
ADAMTS6ENSG00000049192ENST00000381055p.C574Yc.1721G>ASubstitution - Missense
FLNBENSG00000136068ENST00000357272p.G565Rc.1693G>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.R403Rc.1209G>ASubstitution - coding silent
ADH7ENSG00000196344ENST00000476959p.A300Pc.898G>CSubstitution - Missense
CCND1ENSG00000110092ENST00000227507p.P287Ac.859C>GSubstitution - Missense
NME7ENSG00000143156ENST00000367811p.T94Tc.282G>ASubstitution - coding silent
RRAGCENSG00000116954ENST00000373001p.H364Dc.1090C>GSubstitution - Missense
OTUD7BENSG00000163113ENST00000369135p.V312Ic.934G>ASubstitution - Missense
STAMENSG00000136738ENST00000377524p.T281Mc.842C>TSubstitution - Missense
QSER1ENSG00000060749ENST00000399302p.S425Cc.1273A>TSubstitution - Missense
CHD4ENSG00000111642ENST00000357008p.G590Dc.1769G>ASubstitution - Missense
SLC12A6ENSG00000140199ENST00000290209p.T804Tc.2412G>ASubstitution - coding silent
MTHFD1ENSG00000100714ENST00000555709p.?c.614_616-3del1789Unknown
PIF1ENSG00000140451ENST00000268043p.F333Fc.999C>TSubstitution - coding silent
PELP1ENSG00000141456ENST00000301396p.A1129_P1132delALPPc.3384_3395del12Deletion - In frame
MAGI1ENSG00000151276ENST00000483466p.V1076Vc.3228G>ASubstitution - coding silent
DNAJA1ENSG00000086061ENST00000330899p.G391Dc.1172G>ASubstitution - Missense
ZNF878ENSG00000257446ENST00000547628p.Y210fs*17c.629_633delATCTTDeletion - Frameshift
KRTAP10-6ENSG00000188155ENST00000400368p.V311_C312insQVHLLPPSc.933_934ins24Insertion - In frame
TANKENSG00000136560ENST00000259075p.G128Sc.382G>ASubstitution - Missense
COLGALT2ENSG00000198756ENST00000367520p.I162Lc.484A>CSubstitution - Missense
MCF2LENSG00000126217ENST00000434480p.L301Lc.903C>TSubstitution - coding silent
MTHFD1ENSG00000100714ENST00000216605p.?c.1478_1480-3del1301Unknown
RIMBP2ENSG00000060709ENST00000261655p.R749Wc.2245C>TSubstitution - Missense
IPO5ENSG00000065150ENST00000261574p.M928Vc.2782A>GSubstitution - Missense
SSH1ENSG00000084112ENST00000326470p.R155*c.463C>TSubstitution - Nonsense
PRAMEF1ENSG00000116721ENST00000332296p.V108Fc.322G>TSubstitution - Missense
APOA1BPENSG00000163382ENST00000368235p.G45Sc.133G>ASubstitution - Missense
MIB2ENSG00000197530ENST00000355826p.?c.2142+8C>TUnknown
ARID3BENSG00000179361ENST00000346246p.?c.881+10C>TUnknown
SP7ENSG00000170374ENST00000536324p.I293Ic.879C>TSubstitution - coding silent
FAM86C1ENSG00000158483ENST00000359244p.P121Pc.363C>TSubstitution - coding silent
ACVRL1ENSG00000139567ENST00000388922p.R410Cc.1228C>TSubstitution - Missense
CALCAENSG00000110680ENST00000361010p.L32Qc.95T>ASubstitution - Missense
NEBLENSG00000078114ENST00000417816p.Q114Ec.340C>GSubstitution - Missense
CCDC153ENSG00000248712ENST00000503566p.L203Lc.609G>ASubstitution - coding silent
ENST00000375140p.L117Lc.351G>ASubstitution - coding silent
PAPPA2ENSG00000116183ENST00000367662p.T1328Ic.3983C>TSubstitution - Missense
ENST00000417249p.V730Ac.2189T>CSubstitution - Missense
INADLENSG00000132849ENST00000371158p.L1505Lc.4515G>ASubstitution - coding silent
ENST00000300671p.A3168Vc.9503C>TSubstitution - Missense
R3HDM4ENSG00000198858ENST00000361574p.P161Pc.483C>TSubstitution - coding silent
ZNF208ENSG00000160321ENST00000397126p.T252Ic.755C>TSubstitution - Missense
PF4ENSG00000163737ENST00000296029p.G79Gc.237A>GSubstitution - coding silent
UGT2A3ENSG00000135220ENST00000251566p.R445Tc.1334G>CSubstitution - Missense
ENSG00000235531ENST00000524152p.?c.163-9T>CUnknown
CHRNA1ENSG00000138435ENST00000261007p.V261Ic.781G>ASubstitution - Missense
RETSATENSG00000042445ENST00000295802p.T466Tc.1398T>CSubstitution - coding silent
ENST00000226094p.Q518Ec.1552C>GSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.F2560Fc.7680C>TSubstitution - coding silent
HCFC1ENSG00000172534ENST00000310441p.P978Pc.2934T>CSubstitution - coding silent
GPR116ENSG00000069122ENST00000265417p.V673Ic.2017G>ASubstitution - Missense
LPIN3ENSG00000132793ENST00000373257p.L594Lc.1782C>TSubstitution - coding silent
PARP8ENSG00000151883ENST00000281631p.G140Gc.420G>TSubstitution - coding silent
PROCENSG00000115718ENST00000453608p.F31Lc.93C>GSubstitution - Missense
SLC4A10ENSG00000144290ENST00000415876p.V326Ic.976G>ASubstitution - Missense
AF274025.1p.N151Yc.451A>TSubstitution - Missense
AKAP3ENSG00000111254ENST00000228850p.E100Dc.300G>TSubstitution - Missense
KIF21AENSG00000139116ENST00000361961p.?c.4692+1_4693-1del1285Unknown
CROCCENSG00000058453ENST00000375541p.A102Ac.306C>TSubstitution - coding silent
KIF21AENSG00000139116ENST00000361961p.T863Tc.2589A>GSubstitution - coding silent
CALCAENSG00000110680ENST00000331587p.L32Qc.95T>ASubstitution - Missense
ELMOD1ENSG00000110675ENST00000265840p.E189Kc.565G>ASubstitution - Missense
ARHGEF10LENSG00000074964ENST00000361221p.D140Ec.420T>GSubstitution - Missense
CELSR2ENSG00000143126ENST00000271332p.R2866Wc.8596C>TSubstitution - Missense
POLE2ENSG00000100479ENST00000216367p.P453Pc.1359C>TSubstitution - coding silent
SOX5ENSG00000134532ENST00000451604p.I709Mc.2127C>GSubstitution - Missense
UBXN10ENSG00000162543ENST00000375099p.S41_A42insHMIRPKSc.102_103ins21Insertion - In frame
UNC13CENSG00000137766ENST00000260323p.M2080Lc.6238A>CSubstitution - Missense
NUGGCENSG00000189233ENST00000413272p.A423Tc.1267G>ASubstitution - Missense
LOXL2ENSG00000134013ENST00000389131p.Q432Qc.1296G>ASubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.Q719Hc.2157G>CSubstitution - Missense
RGS19ENSG00000171700ENST00000395042p.?c.31-6C>TUnknown
ZNF17ENSG00000186272ENST00000307658p.H520Yc.1558C>TSubstitution - Missense
ZNF667ENSG00000198046ENST00000342634p.R496Mc.1487G>TSubstitution - Missense
SLC20A1ENSG00000144136ENST00000272542p.G207Ec.620G>ASubstitution - Missense
FBXW7ENSG00000109670ENST00000281708p.H420Yc.1258C>TSubstitution - Missense
APOL4ENSG00000100336ENST00000328429p.Q83Hc.249G>CSubstitution - Missense
NACADENSG00000136274ENST00000490531p.V1537Mc.4609G>ASubstitution - Missense
HLA-EENSG00000204592ENST00000376630p.T292Tc.876C>TSubstitution - coding silent
ZFHX3ENSG00000140836ENST00000268489p.E1900Ac.5699A>CSubstitution - Missense
CHD6ENSG00000124177ENST00000373233p.L812Lc.2436C>GSubstitution - coding silent
SCN2AENSG00000136531ENST00000375437p.I1427Vc.4279A>GSubstitution - Missense
PGBD2ENSG00000185220ENST00000329291p.P311Pc.933C>GSubstitution - coding silent
C2CD3ENSG00000168014ENST00000334126p.S563Ic.1688G>TSubstitution - Missense
RFC3ENSG00000133119ENST00000434425p.Y60Sc.179A>CSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.Y1251fs*1c.3753_3754delCADeletion - Frameshift
PADI4ENSG00000159339ENST00000375448p.Q3Qc.9G>ASubstitution - coding silent
OR14I1ENSG00000189181ENST00000342623p.P241Lc.722C>TSubstitution - Missense
RIT2ENSG00000152214ENST00000326695p.Y99Cc.296A>GSubstitution - Missense
AKAP9ENSG00000127914ENST00000356239p.?c.3838-4A>TUnknown
CASP8ENSG00000064012ENST00000358485p.I340Ic.1020C>ASubstitution - coding silent
ABCB5ENSG00000004846ENST00000258738p.R589Hc.1766G>ASubstitution - Missense
TNIP3ENSG00000050730ENST00000057513p.D101Ec.303C>GSubstitution - Missense
CYP2D6ENSG00000100197ENST00000360608p.F120Ic.358T>ASubstitution - Missense
SETD2ENSG00000181555ENST00000409792p.S1940Gc.5818A>GSubstitution - Missense
POU3F4ENSG00000196767ENST00000373200p.A116Gc.347C>GSubstitution - Missense
TMPRSS7ENSG00000176040ENST00000419127p.?c.1288+9G>CUnknown
OR8J1ENSG00000172487ENST00000303039p.V166Gc.497T>GSubstitution - Missense
OR8U1ENSG00000172199ENST00000302270p.D181Ec.543C>ASubstitution - Missense
DVL3ENSG00000161202ENST00000313143p.?c.1199-8A>CUnknown
PMFBP1ENSG00000118557ENST00000537465p.A501Tc.1501G>ASubstitution - Missense
EP300ENSG00000100393ENST00000263253p.D1399Nc.4195G>ASubstitution - Missense
PRAMEF1ENSG00000116721ENST00000332296p.V108Fc.322G>TSubstitution - Missense
KRT8ENSG00000170421ENST00000293308p.?c.690+2_691del522Unknown
NM_024863.3p.I239Rc.716T>GSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.R4875Wc.14623C>TSubstitution - Missense
PRUNEENSG00000143363ENST00000271620p.?c.934-1G>AUnknown
ARHGEF10LENSG00000074964ENST00000361221p.D140Ec.420T>GSubstitution - Missense
LAMC1ENSG00000135862ENST00000258341p.?c.1990+4A>TUnknown
ITFG2ENSG00000111203ENST00000228799p.T428Mc.1283C>TSubstitution - Missense
KLHDC2ENSG00000165516ENST00000298307p.?c.634-7C>AUnknown
HOOK1ENSG00000134709ENST00000371208p.L282Vc.844C>GSubstitution - Missense
SLC2A7ENSG00000197241ENST00000400906p.V386fs*112c.1156_1157delGTDeletion - Frameshift
TMEFF2ENSG00000144339ENST00000409056p.W159Sc.476G>CSubstitution - Missense
ANKRD27ENSG00000105186ENST00000306065p.H432Yc.1294C>TSubstitution - Missense
OSBP2ENSG00000184792ENST00000332585p.D289Dc.867C>TSubstitution - coding silent
IL1RNENSG00000136689ENST00000259206p.D179Dc.537C>TSubstitution - coding silent
EPB41L3ENSG00000082397ENST00000542146p.?c.1068+6G>AUnknown
TTNENSG00000155657ENST00000342992p.R17382Qc.52145G>ASubstitution - Missense
LRCH1ENSG00000136141ENST00000389798p.L263Lc.789T>CSubstitution - coding silent
SASS6ENSG00000156876ENST00000287482p.?c.1674+3A>GUnknown
RNASEH2BENSG00000136104ENST00000336617p.P255Ac.763C>GSubstitution - Missense
FAM86C1ENSG00000158483ENST00000426628p.P114Pc.342C>TSubstitution - coding silent
KIF21AENSG00000139116ENST00000361961p.?c.4892+1_4893-1del6962Unknown
KIF21AENSG00000139116ENST00000395670p.?c.4280+3_4282del1856Unknown
CHD4ENSG00000111642ENST00000309577p.G590Dc.1769G>ASubstitution - Missense
ENST00000398121p.Y15Cc.44A>GSubstitution - Missense
LRRC40ENSG00000066557ENST00000370952p.I517Ic.1551C>TSubstitution - coding silent
CDH26ENSG00000124215ENST00000348616p.T450Nc.1349C>ASubstitution - Missense
ZNF823ENSG00000197933ENST00000341191p.I83Ic.249T>CSubstitution - coding silent
KRTAP10-6ENSG00000188155ENST00000400368p.C312fs*>54c.934_935delTGDeletion - Frameshift
TMEM241ENSG00000134490ENST00000383233p.?c.672-10C>TUnknown
EPPK1ENSG00000227184ENST00000525985p.I2343Ic.7029C>TSubstitution - coding silent
MFI2ENSG00000163975ENST00000296350p.R215Qc.644G>ASubstitution - Missense
COL9A3ENSG00000092758ENST00000343916p.?c.1402-6C>TUnknown
HID1ENSG00000167861ENST00000425042p.G622Gc.1866C>TSubstitution - coding silent
KPNA4ENSG00000186432ENST00000334256p.?c.1467+1_1468-1del2755Unknown
PTPN12ENSG00000127947ENST00000248594p.P391Pc.1173A>GSubstitution - coding silent
QTRTD1ENSG00000151576ENST00000281273p.N371Sc.1112A>GSubstitution - Missense
COL7A1ENSG00000114270ENST00000328333p.R1944Wc.5830C>TSubstitution - Missense
KCNT1ENSG00000107147ENST00000298480p.R1221Hc.3662G>ASubstitution - Missense
SCIMPENSG00000161929ENST00000574081p.Y69Nc.205T>ASubstitution - Missense
NM_005334.1p.P881Pc.2643T>CSubstitution - coding silent
NOTCH1ENSG00000148400ENST00000277541p.C664fs*109c.1989_1990insAGInsertion - Frameshift
DMKNENSG00000161249ENST00000424570p.Q214Lc.641A>TSubstitution - Missense
ANKRD7ENSG00000106013ENST00000357099p.A273Tc.817G>ASubstitution - Missense
KLHL29ENSG00000119771ENST00000486442p.A411Dc.1232C>ASubstitution - Missense
TM9SF4ENSG00000101337ENST00000217315p.?c.1194+8T>CUnknown
ZNF816ENSG00000180257ENST00000357666p.Y621Sc.1862A>CSubstitution - Missense
PLEKHG1ENSG00000120278ENST00000358517p.S595Sc.1785C>TSubstitution - coding silent
ENST00000160874p.A308Tc.922G>ASubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.T1855Sc.5564C>GSubstitution - Missense
TRIM37ENSG00000108395ENST00000262294p.Q829Qc.2487G>ASubstitution - coding silent
SKA2ENSG00000182628ENST00000330137p.?c.267+1_268-1del6973Unknown
CTNNA1ENSG00000044115ENST00000302763p.I189Vc.565A>GSubstitution - Missense
NEBENSG00000183091ENST00000397345p.F6671Fc.20013C>TSubstitution - coding silent
ZNF79ENSG00000196152ENST00000342483p.R62Sc.186G>TSubstitution - Missense
MYO16ENSG00000041515ENST00000457511p.H552Dc.1654C>GSubstitution - Missense
ACVRL1ENSG00000139567ENST00000550683p.R424Cc.1270C>TSubstitution - Missense
DMKNENSG00000161249ENST00000429837p.Q214Lc.641A>TSubstitution - Missense
DAPK1ENSG00000196730ENST00000469640p.G807Gc.2421C>TSubstitution - coding silent
PAN2ENSG00000135473ENST00000440411p.E1181Kc.3541G>ASubstitution - Missense
ARID4BENSG00000054267ENST00000264183p.R34Gc.100A>GSubstitution - Missense
IRAK4ENSG00000198001ENST00000448290p.W74*c.221G>ASubstitution - Nonsense
COPB1ENSG00000129083ENST00000249923p.P779Lc.2336C>TSubstitution - Missense
ZNF7ENSG00000147789ENST00000325241p.S190Rc.568A>CSubstitution - Missense
GSDMDENSG00000104518ENST00000262580p.I90Vc.268A>GSubstitution - Missense
CASP8ENSG00000064012ENST00000264275p.I298Ic.894C>ASubstitution - coding silent
VWA3BENSG00000168658ENST00000477737p.K622Tc.1865A>CSubstitution - Missense
SLC9A3R1ENSG00000109062ENST00000262613p.L251Lc.753G>ASubstitution - coding silent
ZNF417ENSG00000173480ENST00000312026p.E299Kc.895G>ASubstitution - Missense
USP34ENSG00000115464ENST00000398571p.L988Fc.2962C>TSubstitution - Missense
GTSE1ENSG00000075218ENST00000454366p.A327Tc.979G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.S2705Cc.8114C>GSubstitution - Missense
UQCRQENSG00000164405ENST00000378665p.I15Ic.45C>TSubstitution - coding silent
DMKNENSG00000161249ENST00000339686p.Q214Lc.641A>TSubstitution - Missense
KMT2EENSG00000005483ENST00000257745p.?c.1130+8C>TUnknown
PKD1ENSG00000008710ENST00000262304p.G1564Gc.4692G>ASubstitution - coding silent
OSBP2ENSG00000184792ENST00000382310p.D289Dc.867C>TSubstitution - coding silent
KMT2EENSG00000005483ENST00000476671p.?c.1130+8C>TUnknown
EPB41L3ENSG00000082397ENST00000544123p.?c.2646+6G>AUnknown
CABLES1ENSG00000134508ENST00000420687p.D199Dc.597C>TSubstitution - coding silent
RTL1ENSG00000254656ENST00000534062p.Q1103Rc.3308A>GSubstitution - Missense
SP7ENSG00000170374ENST00000536324p.S269Cc.806C>GSubstitution - Missense
C12orf10ENSG00000139637ENST00000267103p.Q236*c.706C>TSubstitution - Nonsense
KIF21AENSG00000139116ENST00000361961p.?c.4521+1_4522-1del1685Unknown
KIF21AENSG00000139116ENST00000395670p.?c.4563+1_4564-1del1685Unknown
C10orf82ENSG00000165863ENST00000369210p.E139Qc.415G>CSubstitution - Missense
SLAMF8ENSG00000158714ENST00000289707p.V121Vc.363G>ASubstitution - coding silent
NM_152696p.I893Ic.2679C>TSubstitution - coding silent
ANKRD26ENSG00000107890ENST00000376087p.E533Qc.1597G>CSubstitution - Missense
MTHFD1ENSG00000100714ENST00000555709p.?c.1310_1312-3del1301Unknown
KCNG4ENSG00000168418ENST00000308251p.R343Hc.1028G>ASubstitution - Missense
NSFENSG00000073969ENST00000398238p.E471Qc.1411G>CSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.S295Rc.885T>ASubstitution - Missense
STXBP2ENSG00000076944ENST00000221283p.A202Tc.604G>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.?c.375+1G>AUnknown
ENSG00000257743ENST00000477922p.R1524Hc.4571G>ASubstitution - Missense
GAREMLENSG00000157833ENST00000401533p.?c.253+8C>TUnknown
NEFHENSG00000100285ENST00000310624p.K749Kc.2247G>ASubstitution - coding silent
TFPTENSG00000105619ENST00000391759p.D61Dc.183T>CSubstitution - coding silent
KDM8ENSG00000155666ENST00000441782p.R377Qc.1130G>ASubstitution - Missense
ATP13A1ENSG00000105726ENST00000357324p.T353Tc.1059G>ASubstitution - coding silent
NLGN4YENSG00000165246ENST00000355905p.V677fs*15c.2029delGDeletion - Frameshift
ZFPM2ENSG00000169946ENST00000407775p.F363Fc.1089C>TSubstitution - coding silent
APOA1BPENSG00000163382ENST00000368233p.G45Sc.133G>ASubstitution - Missense
MTHFD1ENSG00000100714ENST00000216605p.?c.782_784-3del1789Unknown
TP53ENSG00000141510ENST00000269305p.?c.375+1G>AUnknown
FBXW7ENSG00000109670ENST00000281708p.H420Yc.1258C>TSubstitution - Missense
TNK2ENSG00000061938ENST00000381916p.P757Pc.2271G>ASubstitution - coding silent
MED16ENSG00000175221ENST00000325464p.T581Tc.1743C>TSubstitution - coding silent
KIAA1239ENSG00000174145ENST00000309447p.G1587Gc.4761G>ASubstitution - coding silent
FAM47EENSG00000189157ENST00000339906p.?c.221+1G>CUnknown
CAMKVENSG00000164076ENST00000477224p.S341Lc.1022C>TSubstitution - Missense
SMTNENSG00000183963ENST00000358743p.P496Lc.1487C>TSubstitution - Missense
SMTNENSG00000183963ENST00000333137p.P496Lc.1487C>TSubstitution - Missense
NM_006904p.?c.9922+3A>GUnknown
KPNA4ENSG00000186432ENST00000334256p.?c.726+1_727-1del93Unknown
CAB39ENSG00000135932ENST00000258418p.S163Sc.489G>ASubstitution - coding silent
CUL7ENSG00000044090ENST00000265348p.D1580Dc.4740T>CSubstitution - coding silent
COL14A1ENSG00000187955ENST00000297848p.K1136Rc.3407A>GSubstitution - Missense
FAM114A2ENSG00000055147ENST00000351797p.S323Yc.968C>ASubstitution - Missense
TIMM50ENSG00000105197ENST00000314349p.A151Ac.453G>ASubstitution - coding silent
ARL5AENSG00000162980ENST00000295087p.S174Sc.522A>GSubstitution - coding silent
SUPT3HENSG00000196284ENST00000371460p.E79Kc.235G>ASubstitution - Missense
TMEM180ENSG00000138111ENST00000369931p.R84Cc.250C>TSubstitution - Missense
EXOSC2ENSG00000130713ENST00000372358p.N200Nc.600C>TSubstitution - coding silent
MTHFD1ENSG00000100714ENST00000216605p.?c.892_896-5del4878Unknown
ATP13A1ENSG00000105726ENST00000291503p.T235Tc.705G>ASubstitution - coding silent
ZFHX4ENSG00000091656ENST00000050961p.Q719Hc.2157G>CSubstitution - Missense
GLUD1ENSG00000148672ENST00000277865p.?c.1557+1_1558-1del1471Unknown
OS9ENSG00000135506ENST00000315970p.C181Cc.543C>TSubstitution - coding silent
AMER2ENSG00000165566ENST00000357816p.A40Vc.119C>TSubstitution - Missense
KMT2AENSG00000118058ENST00000534358p.I2031Ic.6093C>TSubstitution - coding silent
FAM129AENSG00000135842ENST00000367511p.S592*c.1775C>GSubstitution - Nonsense
ENST00000369728p.G584_G592>VSc.1751_1774>TGAComplex - deletion inframe
HMCN1ENSG00000143341ENST00000271588p.R2360Hc.7079G>ASubstitution - Missense
USP26ENSG00000134588ENST00000370832p.L345Lc.1033C>TSubstitution - coding silent
SH2D3AENSG00000125731ENST00000245908p.P246Lc.737C>TSubstitution - Missense
NPC1ENSG00000141458ENST00000269228p.A321Vc.962C>TSubstitution - Missense
SLX4ENSG00000188827ENST00000294008p.R87Kc.260G>ASubstitution - Missense
TMEM237ENSG00000155755ENST00000409883p.G238Ac.713G>CSubstitution - Missense
ADCY3ENSG00000138031ENST00000260600p.I1106Mc.3318C>GSubstitution - Missense
C20orf195ENSG00000125531ENST00000370097p.V230Ic.688G>ASubstitution - Missense
SCAF8ENSG00000213079ENST00000367178p.?c.115-10C>TUnknown
KPNA4ENSG00000186432ENST00000334256p.?c.383+1_384-1del521Unknown
NM_006343p.P252Pc.756A>CSubstitution - coding silent
EEFSECENSG00000132394ENST00000254730p.A198Tc.592G>ASubstitution - Missense
ENST00000534231p.H181Yc.541C>TSubstitution - Missense
CCHCR1ENSG00000204536ENST00000396268p.Q325Rc.974A>GSubstitution - Missense
THSD7AENSG00000005108ENST00000423059p.E1385Kc.4153G>ASubstitution - Missense
PCDHB1ENSG00000171815ENST00000306549p.L659Lc.1977C>GSubstitution - coding silent
SCN2AENSG00000136531ENST00000375427p.I1427Vc.4279A>GSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.E1580Ec.4740G>ASubstitution - coding silent
VWA2ENSG00000165816ENST00000392982p.R591Wc.1771C>TSubstitution - Missense
ENST00000393822_v70p.*394Sc.1181G>CNonstop extension
MTHFD1ENSG00000100714ENST00000216605p.?c.2624_2626-3del4131Unknown
PCLOENSG00000186472ENST00000423517p.S2774Cc.8321C>GSubstitution - Missense
NOXA1ENSG00000188747ENST00000341349p.A72Ac.216G>ASubstitution - coding silent
COL5A3ENSG00000080573ENST00000264828p.D1095Dc.3285C>TSubstitution - coding silent
NM_003319p.R10885Qc.32654G>ASubstitution - Missense
PIK3C2AENSG00000011405ENST00000265970p.?c.1561-3T>GUnknown
SPENENSG00000065526ENST00000375759p.R332Cc.994C>TSubstitution - Missense
ZC2HC1CENSG00000119703ENST00000524913p.N260Nc.780C>TSubstitution - coding silent
JDP2ENSG00000140044ENST00000267569p.A56Ac.168C>TSubstitution - coding silent
ADAM10ENSG00000137845ENST00000260408p.S616Nc.1847G>ASubstitution - Missense
MTHFD1ENSG00000100714ENST00000555709p.?c.724_728-5del4878Unknown
CRYZENSG00000116791ENST00000340866p.L225fs*1c.674delTDeletion - Frameshift
USP1ENSG00000162607ENST00000371146p.?c.171-5C>TUnknown
MCF2LENSG00000126217ENST00000375604p.L352Lc.1056C>TSubstitution - coding silent
CAMTA1ENSG00000171735ENST00000303635p.P1355Sc.4063C>TSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.T252Ic.755C>TSubstitution - Missense
GUCY2DENSG00000132518ENST00000254854p.G553Gc.1659T>GSubstitution - coding silent
FOXK2ENSG00000141568ENST00000335255p.?c.761_763-3del3522Unknown
GAPTENSG00000175857ENST00000396776p.T58Nc.173C>ASubstitution - Missense
PPAP2AENSG00000067113ENST00000264775p.?c.730-6_746del23Unknown
PPAP2AENSG00000067113ENST00000307259p.?c.727-6_743del23Unknown
KIAA0947ENSG00000164151ENST00000296564p.N828Tc.2483A>CSubstitution - Missense
KIAA0947ENSG00000164151ENST00000296564p.N828Tc.2483A>CSubstitution - Missense
GPR110ENSG00000153292ENST00000371253p.I811Tc.2432T>CSubstitution - Missense
SUPT3HENSG00000196284ENST00000371459p.E68Kc.202G>ASubstitution - Missense
C10orf82ENSG00000165863ENST00000588184p.E139Qc.415G>CSubstitution - Missense
ENSG00000150076ENST00000375025p.D54Hc.160G>CSubstitution - Missense
FAM35AENSG00000122376ENST00000298786p.C159Yc.476G>ASubstitution - Missense
OR10AG1ENSG00000174970ENST00000312345p.L157Lc.471G>ASubstitution - coding silent
TMEM52BENSG00000165685ENST00000381923p.C84Sc.251G>CSubstitution - Missense
ENST00000367531p.E273Ec.819G>ASubstitution - coding silent
LPHN2ENSG00000117114ENST00000370715p.A1027Ac.3081T>CSubstitution - coding silent
PIF1ENSG00000140451ENST00000333425p.F333Fc.999C>TSubstitution - coding silent
UNC13CENSG00000137766ENST00000545554p.M2080Lc.6238A>CSubstitution - Missense
SLC12A4ENSG00000124067ENST00000541864p.C131Yc.392G>ASubstitution - Missense
TBCDENSG00000141556ENST00000397466p.S16Fc.47C>TSubstitution - Missense
MED16ENSG00000175221ENST00000312090p.T581Tc.1743C>TSubstitution - coding silent
TM9SF4ENSG00000101337ENST00000398022p.?c.1245+8T>CUnknown
IL1RNENSG00000136689ENST00000409930p.D176Dc.528C>TSubstitution - coding silent
COBLL1ENSG00000082438ENST00000194871p.R936Tc.2807G>CSubstitution - Missense
ENST00000398800_v70p.T762Ic.2285C>TSubstitution - Missense
THADAENSG00000115970ENST00000405975p.N1305Dc.3913A>GSubstitution - Missense
XRN1ENSG00000114127ENST00000544157p.E17*c.49G>TSubstitution - Nonsense
CADPSENSG00000163618ENST00000473635p.G218Vc.653G>TSubstitution - Missense
FLNBENSG00000136068ENST00000490882p.G565Rc.1693G>ASubstitution - Missense
FLNBENSG00000136068ENST00000295956p.G565Rc.1693G>ASubstitution - Missense
CEP19ENSG00000174007ENST00000409690p.I37Tc.110T>CSubstitution - Missense
CDH23ENSG00000107736ENST00000299366p.?c.444+1_444+2insGUnknown
MTHFD1ENSG00000100714ENST00000216605p.?c.407_409-3del2832Unknown
MTHFD1ENSG00000100714ENST00000216605p.?c.1764_1766-3del3424Unknown
MTHFD1ENSG00000100714ENST00000216605p.?c.2447+1_2448-1del1127Unknown
MTHFD1ENSG00000100714ENST00000216605p.?c.2731_2734-4del861Unknown
NLGN4YENSG00000165246ENST00000382868p.V734fs*15c.2200delGDeletion - Frameshift
TENM1ENSG00000009694ENST00000422452p.R1962Qc.5885G>ASubstitution - Missense
WDR61ENSG00000140395ENST00000267973p.G230Sc.688G>ASubstitution - Missense
HEPHL1ENSG00000181333ENST00000315765p.L1027Fc.3079C>TSubstitution - Missense
ENST00000298715p.R591Wc.1771C>TSubstitution - Missense
PTPRCENSG00000081237ENST00000442510p.T122Tc.366G>TSubstitution - coding silent
NDUFS1ENSG00000023228ENST00000233190p.T232Ic.695C>TSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.S295Rc.885T>ASubstitution - Missense
CADPSENSG00000163618ENST00000283269p.G1187Gc.3561G>TSubstitution - coding silent
FOXK2ENSG00000141568ENST00000335255p.?c.1276_1280-5del1715Unknown
ZNF621ENSG00000172888ENST00000339296p.Q226Qc.678G>ASubstitution - coding silent
HEG1ENSG00000173706ENST00000311127p.Y535Hc.1603T>CSubstitution - Missense
ENST00000313614p.?c.853+9G>CUnknown
TTC37ENSG00000198677ENST00000358746p.?c.4620+3_4622del3184Unknown
SKA2ENSG00000182628ENST00000437036p.?c.216-6973_216-1del6973Unknown
TRIOENSG00000038382ENST00000344204p.D2244Dc.6732C>TSubstitution - coding silent
INTS1ENSG00000164880ENST00000389470p.Y2351Yc.7053C>TSubstitution - coding silent
CDC23ENSG00000094880ENST00000394884p.S149Sc.447T>CSubstitution - coding silent
ELFN1ENSG00000225968ENST00000424383p.E767Kc.2299G>ASubstitution - Missense
SLC12A6ENSG00000140199ENST00000397707p.T840Tc.2520G>ASubstitution - coding silent
LPHN2ENSG00000117114ENST00000370721p.A965Ac.2895T>CSubstitution - coding silent
MCF2LENSG00000126217ENST00000423482p.L293Lc.879C>TSubstitution - coding silent
THADAENSG00000115970ENST00000330266p.N1015Dc.3043A>GSubstitution - Missense
KCNT1ENSG00000107147ENST00000263604p.R1195Hc.3584G>ASubstitution - Missense
CUX2ENSG00000111249ENST00000261726p.S1399Sc.4197G>ASubstitution - coding silent
ARHGEF3ENSG00000163947ENST00000413728p.E414Kc.1240G>ASubstitution - Missense
ENST00000388884p.E139Qc.415G>CSubstitution - Missense
ENST00000398860p.?c.444+1_444+2insGUnknown
COLGALT2ENSG00000198756ENST00000361927p.I425Lc.1273A>CSubstitution - Missense
SLC38A8ENSG00000166558ENST00000299709p.V221Dc.662T>ASubstitution - Missense
CCDC102BENSG00000150636ENST00000584156p.Y482Cc.1445A>GSubstitution - Missense
PCDH11YENSG00000099715ENST00000215473p.?c.3329-7A>GUnknown
TYK2ENSG00000105397ENST00000525621p.?c.2716-4C>GUnknown
ANGPTL6ENSG00000130812ENST00000253109p.R441Hc.1322G>ASubstitution - Missense
PPP4R1ENSG00000154845ENST00000400556p.L917Vc.2749C>GSubstitution - Missense
PPP4R1ENSG00000154845ENST00000400556p.S902Cc.2705C>GSubstitution - Missense
FOXRED2ENSG00000100350ENST00000397223p.T558Tc.1674G>ASubstitution - coding silent
LAMA4ENSG00000112769ENST00000389463p.L314Lc.942C>GSubstitution - coding silent
CSMD3ENSG00000164796ENST00000297405p.F2600Fc.7800C>TSubstitution - coding silent
CSMD3ENSG00000164796ENST00000297405p.K2492Mc.7475A>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.K2452Mc.7355A>TSubstitution - Missense
TMEM200AENSG00000164484ENST00000296978p.L391Lc.1173C>TSubstitution - coding silent
TMEM200AENSG00000164484ENST00000392429p.L391Lc.1173C>TSubstitution - coding silent
KIAA0408ENSG00000189367ENST00000483725p.N310Yc.928A>TSubstitution - Missense
TMEM132EENSG00000181291ENST00000321639p.P528Lc.1583C>TSubstitution - Missense
ARHGEF33ENSG00000214694ENST00000398800p.T762Ic.2285C>TSubstitution - Missense
CEBPZENSG00000115816ENST00000234170p.F857Cc.2570T>GSubstitution - Missense
ATP6V1E2ENSG00000250565ENST00000306448p.L45Lc.135C>TSubstitution - coding silent
FAM110CENSG00000184731ENST00000327669p.P281Pc.843C>TSubstitution - coding silent
MEOX1ENSG00000005102ENST00000318579p.P39Lc.116C>TSubstitution - Missense
ENST00000330137_v68p.?c.297+1_298-1del6973Unknown
ENST00000437036_v68p.?c.216-6973_216-1del6973Unknown
DMKNENSG00000161249ENST00000419602p.Q214Lc.641A>TSubstitution - Missense
CD22ENSG00000012124ENST00000085219p.K650Kc.1950G>ASubstitution - coding silent
WDR87ENSG00000171804ENST00000447313p.R830Cc.2488C>TSubstitution - Missense
MCF2L2ENSG00000053524ENST00000328913p.S788Lc.2363C>TSubstitution - Missense
TSC1ENSG00000165699ENST00000298552p.I688Fc.2062A>TSubstitution - Missense
NOTCH1ENSG00000148400ENST00000277541p.C664fs*109c.1989_1990insAGInsertion - Frameshift
NOTCH1ENSG00000148400ENST00000277541p.C664fs*109c.1986_1987insGAInsertion - Frameshift
NOTCH1ENSG00000148400ENST00000277541p.C664fs*109c.1986_1987insGAInsertion - Frameshift
DAPK1ENSG00000196730ENST00000358077p.G807Gc.2421C>TSubstitution - coding silent
FCGBPENSG00000090920ENST00000221347p.L2586Qc.7757T>ASubstitution - Missense
SDK1ENSG00000146555ENST00000404826p.D956Hc.2866G>CSubstitution - Missense
SLITRK2ENSG00000185985ENST00000447897p.T245Tc.735T>CSubstitution - coding silent
SLC6A8ENSG00000130821ENST00000253122p.R443Gc.1327A>GSubstitution - Missense
FAXDC2ENSG00000170271ENST00000326080p.E310Dc.930G>CSubstitution - Missense
HIST1H4LENSG00000198558ENST00000355981p.G8Gc.24G>ASubstitution - coding silent
ENST00000539307p.A33Sc.97G>TSubstitution - Missense
CCHCR1ENSG00000204536ENST00000376266p.Q236Rc.707A>GSubstitution - Missense
AZIN1ENSG00000155096ENST00000337198p.?c.584+9T>AUnknown
HPRENSG00000261701ENST00000540303p.Y328fs*1c.984delTDeletion - Frameshift
HPENSG00000257017ENST00000228226p.Y365fs*1c.1095delTDeletion - Frameshift
PMFBP1ENSG00000118557ENST00000237353p.A496Tc.1486G>ASubstitution - Missense
ZNF333ENSG00000160961ENST00000292530p.R175Cc.523C>TSubstitution - Missense
EMR2ENSG00000127507ENST00000315576p.S570*c.1709C>ASubstitution - Nonsense
MEGF8ENSG00000105429ENST00000334370p.P94Lc.281C>TSubstitution - Missense
ENST00000251268_v61p.P94Lc.281C>TSubstitution - Missense
ZNF224ENSG00000267680ENST00000336976p.R335Cc.1003C>TSubstitution - Missense
ZNF283ENSG00000167637ENST00000324461p.F632Fc.1896C>TSubstitution - coding silent
NEBENSG00000183091ENST00000427231p.F6671Fc.20013C>TSubstitution - coding silent
NEBENSG00000183091ENST00000409198p.F4970Fc.14910C>TSubstitution - coding silent
BAZ2BENSG00000123636ENST00000392783p.G93Ec.278G>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000514591p.S166Cc.497C>GSubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.S166Cc.497C>GSubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.S166Cc.497C>GSubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
PIWIL3ENSG00000184571ENST00000332271p.L771fs*2c.2304_2305insTInsertion - Frameshift
COBLL1ENSG00000082438ENST00000342193p.R869Tc.2606G>CSubstitution - Missense
ADCY8ENSG00000155897ENST00000286355p.I1139Nc.3416T>ASubstitution - Missense
ATP6V1G1ENSG00000136888ENST00000374050p.?c.183_184-2del4917Unknown
GARNL3ENSG00000136895ENST00000373387p.?c.2527+4A>TUnknown
GOLGA1ENSG00000136935ENST00000373555p.E548Kc.1642G>ASubstitution - Missense
NM_178001.1p.L335Lc.1003C>TSubstitution - coding silent
PHYHD1ENSG00000175287ENST00000372592p.P135Pc.405C>ASubstitution - coding silent
PRKDCENSG00000253729ENST00000314191p.?c.9919+3A>GUnknown
ENST00000342088p.C470Yc.1409G>ASubstitution - Missense
ZNF667ENSG00000198046ENST00000292069p.R368Mc.1103G>TSubstitution - Missense
OSBPL10ENSG00000144645ENST00000396556p.E158Gc.473A>GSubstitution - Missense
OSBPL10ENSG00000144645ENST00000396556p.E158Gc.473A>GSubstitution - Missense
MYD88ENSG00000172936ENST00000396334p.S28Fc.83C>TSubstitution - Missense
SMARCAD1ENSG00000163104ENST00000354268p.E486Qc.1456G>CSubstitution - Missense
MMP15ENSG00000102996ENST00000219271p.D186Vc.557A>TSubstitution - Missense
INO80BENSG00000115274ENST00000233331p.L354Wc.1061T>GSubstitution - Missense
NM_031288.1p.L341Wc.1022T>GSubstitution - Missense
DCTN1ENSG00000204843ENST00000361874p.?c.3609+5G>AUnknown
MED12LENSG00000144893ENST00000474524p.L866Lc.2596C>TSubstitution - coding silent
SLC9A9ENSG00000181804ENST00000316549p.Q193*c.577C>TSubstitution - Nonsense
RETSATENSG00000042445ENST00000295802p.A467Tc.1399G>ASubstitution - Missense
RETSATENSG00000042445ENST00000295802p.T466Sc.1397C>GSubstitution - Missense
KPNA4ENSG00000186432ENST00000334256p.?c.1209+3_1211del1530Unknown
KPNA4ENSG00000186432ENST00000334256p.?c.556+3_558del1845Unknown
BBS7ENSG00000138686ENST00000264499p.N437Nc.1311C>TSubstitution - coding silent
TNIP3ENSG00000050730ENST00000057513p.R104Rc.310A>CSubstitution - coding silent
CDH9ENSG00000113100ENST00000231021p.V318Lc.952G>CSubstitution - Missense
ABCB5ENSG00000004846ENST00000404938p.R1034Hc.3101G>ASubstitution - Missense
ABCB5ENSG00000004846ENST00000404938p.V1049Ac.3146T>CSubstitution - Missense
ABCB5ENSG00000004846ENST00000404938p.Y617Cc.1850A>GSubstitution - Missense
ABCB5ENSG00000004846ENST00000258738p.Y172Cc.515A>GSubstitution - Missense
STYXL1ENSG00000127952ENST00000359697p.I86Ic.258A>CSubstitution - coding silent
ADAM22ENSG00000008277ENST00000265727p.G61Gc.183C>GSubstitution - coding silent
IL1RAPL1ENSG00000169306ENST00000378993p.P242Pc.726C>ASubstitution - coding silent
IL1RAPL1ENSG00000169306ENST00000378993p.P242Pc.726C>ASubstitution - coding silent
IL1RNENSG00000136689ENST00000361779p.D142Dc.426C>TSubstitution - coding silent
NM_053025p.A1615Vc.4844C>TSubstitution - Missense
SBF1ENSG00000100241ENST00000380817p.L327Lc.979C>TSubstitution - coding silent
SBF1ENSG00000100241ENST00000390679p.L327Lc.979C>TSubstitution - coding silent
MAP4ENSG00000047849ENST00000264724p.K145Ec.433A>GSubstitution - Missense
SETD2ENSG00000181555ENST00000330022p.S1437Gc.4309A>GSubstitution - Missense
CCR5ENSG00000160791ENST00000343801p.K26Rc.77A>GSubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.P2990Rc.8969C>GSubstitution - Missense
ARMC12ENSG00000157343ENST00000288065p.S359Gc.1075A>GSubstitution - Missense
FBXO24ENSG00000106336ENST00000241071p.R137Cc.409C>TSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.Q1903Pc.5708A>CSubstitution - Missense
RELNENSG00000189056ENST00000343529p.E1455*c.4363G>TSubstitution - Nonsense
NAPEPLDENSG00000161048ENST00000455523p.L203Mc.607C>ASubstitution - Missense
NSUN5ENSG00000130305ENST00000438747p.A380Tc.1138G>ASubstitution - Missense
NSUN5ENSG00000130305ENST00000252594p.A380Tc.1138G>ASubstitution - Missense
C9orf173ENSG00000197768ENST00000388931p.F290Fc.870C>TSubstitution - coding silent
FOCADENSG00000188352ENST00000380249p.E1705Qc.5113G>CSubstitution - Missense
ADAMTSL1ENSG00000178031ENST00000380548p.P1653Sc.4957C>TSubstitution - Missense
ADAMTSL1ENSG00000178031ENST00000380548p.A813Tc.2437G>ASubstitution - Missense
YIPF6ENSG00000181704ENST00000462683p.?c.266-7C>GUnknown
POU3F4ENSG00000196767ENST00000373200p.A116Gc.347C>GSubstitution - Missense
ZCCHC13ENSG00000187969ENST00000339534p.R88Cc.262C>TSubstitution - Missense
ERCC6LENSG00000186871ENST00000334463p.Y108Yc.324T>CSubstitution - coding silent
ZNF93ENSG00000184635ENST00000343769p.T308Ic.923C>TSubstitution - Missense
GPR4ENSG00000177464ENST00000323040p.R306Hc.917G>ASubstitution - Missense
KDM8ENSG00000155666ENST00000286096p.R339Qc.1016G>ASubstitution - Missense
INO80EENSG00000169592ENST00000563197p.P107Lc.320C>TSubstitution - Missense
STXBP5LENSG00000145087ENST00000273666p.F59Lc.177C>GSubstitution - Missense
ZNF827ENSG00000151612ENST00000379448p.H747Nc.2239C>ASubstitution - Missense
ZNF827ENSG00000151612ENST00000379448p.H747Nc.2239C>ASubstitution - Missense
FBXW7ENSG00000109670ENST00000263981p.H340Yc.1018C>TSubstitution - Missense
SEPSECSENSG00000109618ENST00000382103p.G183Gc.549T>ASubstitution - coding silent
SEPSECSENSG00000109618ENST00000302922p.G104Gc.312T>ASubstitution - coding silent
MBLAC2ENSG00000176055ENST00000316610p.S171Fc.512C>TSubstitution - Missense
LNPEPENSG00000113441ENST00000231368p.Y650Yc.1950C>TSubstitution - coding silent
LNPEPENSG00000113441ENST00000231368p.V659Ac.1976T>CSubstitution - Missense
FXR2ENSG00000129245ENST00000250113p.S428_G431delSYGGc.1282_1293del12Deletion - In frame
ENST00000428290_v65p.S295Rc.885T>ASubstitution - Missense
TLE6ENSG00000104953ENST00000246112p.Q448Qc.1344G>ASubstitution - coding silent
TLE6ENSG00000104953ENST00000452088p.Q325Qc.975G>ASubstitution - coding silent
KCNA7ENSG00000104848ENST00000221444p.E425Kc.1273G>ASubstitution - Missense
CTNNBL1ENSG00000132792ENST00000361383p.S435Gc.1303A>GSubstitution - Missense
ADNPENSG00000101126ENST00000349014p.P131Pc.393G>ASubstitution - coding silent
CDH26ENSG00000124215ENST00000244047p.T450Nc.1349C>ASubstitution - Missense
PHACTR3ENSG00000087495ENST00000371015p.E122Dc.366A>CSubstitution - Missense
VWDEENSG00000146530ENST00000275358p.S302fs*21c.901_902insTInsertion - Frameshift
MAGI1ENSG00000151276ENST00000330909p.V1075Vc.3225G>ASubstitution - coding silent
CADPSENSG00000163618ENST00000383710p.G1226Gc.3678G>TSubstitution - coding silent
NUGGCENSG00000189233ENST00000341513p.A423Tc.1267G>ASubstitution - Missense
ENSG00000212999ENST00000391681p.W14fs*7c.32_33insGInsertion - Frameshift
CALB1ENSG00000104327ENST00000265431p.E101Ec.303G>ASubstitution - coding silent
SUPT6HENSG00000109111ENST00000314616p.D474Hc.1420G>CSubstitution - Missense
FOXN1ENSG00000109101ENST00000579795p.P401Rc.1202C>GSubstitution - Missense
EFCAB5ENSG00000176927ENST00000394835p.K141Kc.423G>ASubstitution - coding silent
ABHD15ENSG00000168792ENST00000307201p.D367Dc.1101C>TSubstitution - coding silent
FOXK2ENSG00000141568ENST00000335255p.?c.1575_1577-3del862Unknown
TBCDENSG00000141556ENST00000355528p.S402Fc.1205C>TSubstitution - Missense
ZNF750ENSG00000141579ENST00000269394p.M1Ic.3G>CSubstitution - Missense
FOXK2ENSG00000141568ENST00000335255p.?c.1102_1104-3del1078Unknown
ASNA1ENSG00000198356ENST00000357332p.S161Sc.483G>ASubstitution - coding silent
ZNF878ENSG00000257446ENST00000547628p.Y210fs*17c.629_633delATCTTDeletion - Frameshift
ZNF878ENSG00000257446ENST00000602107p.Y257fs*17c.770_774delATCTTDeletion - Frameshift
ZNF823ENSG00000197933ENST00000341191p.I83Ic.249T>CSubstitution - coding silent
AIREENSG00000160224ENST00000291582p.?c.772_880-316del1004Unknown
SFTPBENSG00000168878ENST00000393822p.*382Sc.1145G>CNonstop extension
UGT2A3ENSG00000135220ENST00000251566p.R521Tc.1562G>CSubstitution - Missense
FAM47EENSG00000189157ENST00000424749p.?c.560+1G>CUnknown
ENST00000424749_v68p.?c.560+1G>CUnknown
NUDT21ENSG00000167005ENST00000300291p.I85Ic.255T>CSubstitution - coding silent
CES1ENSG00000198848ENST00000360526p.V166Vc.498G>CSubstitution - coding silent
IKZF3ENSG00000161405ENST00000346872p.R252Kc.755G>ASubstitution - Missense
STARD3ENSG00000131748ENST00000336308p.T9Ac.25A>GSubstitution - Missense
KRT39ENSG00000196859ENST00000355612p.E163*c.487G>TSubstitution - Nonsense
CAMKVENSG00000164076ENST00000477224p.S341Lc.1022C>TSubstitution - Missense
NM_147171.1p.?c.3874-4A>TUnknown
NM_147171.1p.M1891Tc.5672T>CSubstitution - Missense
CYP3A4ENSG00000160868ENST00000336411p.P218Rc.653C>GSubstitution - Missense
DYMENSG00000141627ENST00000269445p.R305Rc.915A>GSubstitution - coding silent
EPB41L3ENSG00000082397ENST00000341928p.?c.3153+6G>AUnknown
APCDD1ENSG00000154856ENST00000355285p.N320delNc.950_952delACADeletion - In frame
APCDD1ENSG00000154856ENST00000355285p.T407Tc.1221C>TSubstitution - coding silent
TUBB6ENSG00000176014ENST00000317702p.V342Mc.1024G>ASubstitution - Missense
ENST00000424015p.L174Vc.520C>GSubstitution - Missense
CABLES1ENSG00000134508ENST00000256925p.D464Dc.1392C>TSubstitution - coding silent
CASP8ENSG00000064012ENST00000264275p.I298Ic.894C>ASubstitution - coding silent
KLHL29ENSG00000119771ENST00000288548p.A191Dc.572C>ASubstitution - Missense
FAM228BENSG00000219626ENST00000420135p.F124Fc.372T>CSubstitution - coding silent
ITSN2ENSG00000198399ENST00000355123p.F1623Ic.4867T>ASubstitution - Missense
FARP2ENSG00000006607ENST00000264042p.A1028Gc.3083C>GSubstitution - Missense
ITGAXENSG00000140678ENST00000268296p.Q856Hc.2568G>CSubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.T590Mc.1769C>TSubstitution - Missense
OSBP2ENSG00000184792ENST00000403222p.D124Dc.372C>TSubstitution - coding silent
NEFHENSG00000100285ENST00000310624p.S752Tc.2254T>ASubstitution - Missense
CLIP4ENSG00000115295ENST00000320081p.A337Tc.1009G>ASubstitution - Missense
SENP5ENSG00000119231ENST00000323460p.D445Nc.1333G>ASubstitution - Missense
MFI2ENSG00000163975ENST00000296351p.R215Qc.644G>ASubstitution - Missense
PCYT1AENSG00000161217ENST00000292823p.S6Pc.16T>CSubstitution - Missense
EOMESENSG00000163508ENST00000449599p.A464Tc.1390G>ASubstitution - Missense
UBE2E1ENSG00000170142ENST00000306627p.L98Fc.292C>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.R403Rc.1209G>ASubstitution - coding silent
DUSP27ENSG00000198842ENST00000361200p.D1134Nc.3400G>ASubstitution - Missense
ZSCAN29ENSG00000140265ENST00000396976p.G144Vc.431G>TSubstitution - Missense
TUBGCP4ENSG00000137822ENST00000564079p.?c.522-2A>GUnknown
LRRC42ENSG00000116212ENST00000319223p.C56fs*15c.163_164insTInsertion - Frameshift
LRRC42ENSG00000116212ENST00000319223p.C56fs*15c.166_167insTInsertion - Frameshift
SSTR1ENSG00000139874ENST00000267377p.S17Ic.50G>TSubstitution - Missense
MDGA2ENSG00000139915ENST00000399232p.S886Sc.2658C>TSubstitution - coding silent
MDGA2ENSG00000139915ENST00000357362p.S588Sc.1764C>TSubstitution - coding silent
ADAMTS17ENSG00000140470ENST00000268070p.E540Vc.1619A>TSubstitution - Missense
OR4F15ENSG00000182854ENST00000332238p.W260Rc.778T>CSubstitution - Missense
SYT10ENSG00000110975ENST00000228567p.S186Nc.557G>ASubstitution - Missense
KIF21BENSG00000116852ENST00000332129p.I344Ic.1032C>ASubstitution - coding silent
ENST00000313929p.S356Fc.1067C>TSubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.M2080Lc.6238A>CSubstitution - Missense
WDR72ENSG00000166415ENST00000396328p.Q981Rc.2942A>GSubstitution - Missense
DHX37ENSG00000150990ENST00000308736p.R674Qc.2021G>ASubstitution - Missense
OR2M5ENSG00000162727ENST00000366476p.L135Ic.403C>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.Y1251fs*1c.3753_3754delCADeletion - Frameshift
PDE4DIPENSG00000178104ENST00000313382p.Y1207fs*1c.3621_3622delCADeletion - Frameshift
INADLENSG00000132849ENST00000543708p.L319Lc.957G>ASubstitution - coding silent
LPHN2ENSG00000117114ENST00000359929p.A1027Ac.3081T>CSubstitution - coding silent
LPHN2ENSG00000117114ENST00000370725p.A1055Ac.3165T>CSubstitution - coding silent
ELTD1ENSG00000162618ENST00000370742p.S491*c.1472C>ASubstitution - Nonsense
WDHD1ENSG00000198554ENST00000360586p.H79Hc.237C>TSubstitution - coding silent
MTHFD1ENSG00000100714ENST00000555709p.?c.1263_1265-3del2710Unknown
MTHFD1ENSG00000100714ENST00000555709p.?c.2279+1_2280-1del1127Unknown
MTHFD1ENSG00000100714ENST00000555709p.?c.2563_2566-4del861Unknown
UNC79ENSG00000133958ENST00000256339p.C2309Cc.6927C>TSubstitution - coding silent
UNC79ENSG00000133958ENST00000553484p.C2508Cc.7524C>TSubstitution - coding silent
DAPK2ENSG00000035664ENST00000261891p.I321Ic.963C>TSubstitution - coding silent
CLPXENSG00000166855ENST00000300107p.L137Lc.411A>GSubstitution - coding silent
C1orf170ENSG00000187642ENST00000341290p.P499Lc.1496C>TSubstitution - Missense
ARHGAP29ENSG00000137962ENST00000260526p.V902Ac.2705T>CSubstitution - Missense
MCF2LENSG00000126217ENST00000375608p.L325Lc.975C>TSubstitution - coding silent
MYO16ENSG00000041515ENST00000357550p.H1040Dc.3118C>GSubstitution - Missense
NM_022459.3p.L243Lc.727C>TSubstitution - coding silent
TUBA3CENSG00000198033ENST00000400113p.?c.1057-559_1269del772Unknown
XPO4ENSG00000132953ENST00000255305p.L270Lc.808C>TSubstitution - coding silent
SLC12A6ENSG00000140199ENST00000558589p.T846Tc.2538G>ASubstitution - coding silent
OIP5ENSG00000104147ENST00000220514p.N208Sc.623A>GSubstitution - Missense
CASC5ENSG00000137812ENST00000346991p.Q991Qc.2973A>GSubstitution - coding silent
CASC5ENSG00000137812ENST00000346991p.Q991Qc.2973A>GSubstitution - coding silent
RICTORENSG00000164327ENST00000357387p.?c.2344-7C>GUnknown
PKD1L2ENSG00000166473ENST00000337114p.S549Pc.1645T>CSubstitution - Missense
PKD1L2ENSG00000166473ENST00000525539p.S549Pc.1645T>CSubstitution - Missense
SYCE1LENSG00000205078ENST00000378644p.L69Lc.205C>TSubstitution - coding silent
ZDHHC7ENSG00000153786ENST00000564466p.?c.649-8C>TUnknown
ARHGAP27ENSG00000159314ENST00000428638p.R314Cc.940C>TSubstitution - Missense
ZNF699ENSG00000196110ENST00000308650p.S293Sc.879G>ASubstitution - coding silent
ENST00000319682p.S81Tc.242G>CSubstitution - Missense
STAT4ENSG00000138378ENST00000358470p.P126Pc.378T>CSubstitution - coding silent
TOXENSG00000198846ENST00000361421p.N33Kc.99C>GSubstitution - Missense
CHD7ENSG00000171316ENST00000423902p.D13Nc.37G>ASubstitution - Missense
NPBWR1ENSG00000183729ENST00000331251p.D236Dc.708C>TSubstitution - coding silent
CT47B1ENSG00000236446ENST00000371311p.F122Fc.366C>TSubstitution - coding silent
STXBP2ENSG00000076944ENST00000221283p.E558Dc.1674G>TSubstitution - Missense
COL4A6ENSG00000197565ENST00000334504p.Q973Ec.2917C>GSubstitution - Missense
PIH1D3ENSG00000080572ENST00000372453p.M103Ic.309G>TSubstitution - Missense
NM_024863.3p.K236Kc.708A>GSubstitution - coding silent
GPRASP2ENSG00000158301ENST00000543253p.I406Tc.1217T>CSubstitution - Missense
TRIM16ENSG00000221926ENST00000578237p.R271Tc.812G>CSubstitution - Missense
ENSG00000181464ENST00000312127p.V204Ac.611T>CSubstitution - Missense
ENST00000312127_v68p.V204Ac.611T>CSubstitution - Missense
ARHGAP44ENSG00000006740ENST00000379672p.S400Nc.1199G>ASubstitution - Missense
TECPR2ENSG00000196663ENST00000359520p.R1159Rc.3477G>ASubstitution - coding silent
C11orf48ENSG00000162194ENST00000354588p.Q98Rc.293A>GSubstitution - Missense
DCHS1ENSG00000166341ENST00000299441p.A2081Vc.6242C>TSubstitution - Missense
BRMS1ENSG00000174744ENST00000425825p.A95Tc.283G>ASubstitution - Missense
BRMS1ENSG00000174744ENST00000359957p.A95Tc.283G>ASubstitution - Missense
TCIRG1ENSG00000110719ENST00000265686p.K231Rc.692A>GSubstitution - Missense
SLC10A2ENSG00000125255ENST00000245312p.F287Fc.861C>TSubstitution - coding silent
SDCCAG8ENSG00000054282ENST00000366541p.Q363Qc.1089G>ASubstitution - coding silent
TMEM180ENSG00000138111ENST00000238936p.R84Wc.250C>TSubstitution - Missense
TMEM52BENSG00000165685ENST00000298530p.C64Sc.191G>CSubstitution - Missense
CLEC1BENSG00000165682ENST00000298527p.?c.546-10C>TUnknown
UHRF1BP1LENSG00000111647ENST00000279907p.S354Sc.1062T>ASubstitution - coding silent
KIF21AENSG00000139116ENST00000361961p.?c.4238+3_4240del1856Unknown
KIF21AENSG00000139116ENST00000395670p.T876Tc.2628A>GSubstitution - coding silent
KIF21AENSG00000139116ENST00000395670p.?c.4934+1_4935-1del6962Unknown
KIF21AENSG00000139116ENST00000395670p.?c.4734+1_4735-1del1285Unknown
KIF21AENSG00000139116ENST00000361961p.?c.4403+3_4405del2626Unknown
KIF21AENSG00000139116ENST00000395670p.?c.4445+3_4447del2626Unknown
CHST11ENSG00000171310ENST00000303694p.S323Ic.968G>TSubstitution - Missense
AKAP3ENSG00000111254ENST00000545990p.E100Dc.300G>TSubstitution - Missense
IRAK4ENSG00000198001ENST00000448290p.W74*c.221G>ASubstitution - Nonsense
AMER2ENSG00000165566ENST00000515384p.A40Vc.119C>TSubstitution - Missense
RFC3ENSG00000133119ENST00000380071p.Y60Sc.179A>CSubstitution - Missense
N4BP2L2ENSG00000244754ENST00000399396p.K162Nc.486G>TSubstitution - Missense
CCDC181ENSG00000117477ENST00000367805p.N28Tc.83A>CSubstitution - Missense
PROSER1ENSG00000120685ENST00000352251p.K83fs*2c.249delADeletion - Frameshift
SDC3ENSG00000162512ENST00000339394p.A258Ac.774C>TSubstitution - coding silent
SDC3ENSG00000162512ENST00000336798p.A200Ac.600C>TSubstitution - coding silent
TRPM1ENSG00000134160ENST00000397795p.R1104Rc.3312G>ASubstitution - coding silent
SPENENSG00000065526ENST00000438066p.R291Cc.871C>TSubstitution - Missense
ENST00000321016_v61p.P419Pc.1257C>TSubstitution - coding silent
KIAA1614ENSG00000135835ENST00000367588p.E282Kc.844G>ASubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.V800Mc.2398G>ASubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.V800Mc.2398G>ASubstitution - Missense
C1orf21ENSG00000116667ENST00000235307p.D119Hc.355G>CSubstitution - Missense
RGL1ENSG00000143344ENST00000304685p.E273Ec.819G>ASubstitution - coding silent
CHD4ENSG00000111642ENST00000357008p.G590Dc.1769G>ASubstitution - Missense
NM_005933.1p.I2028Ic.6084C>TSubstitution - coding silent
TMPRSS4ENSG00000137648ENST00000437212p.D163Vc.488A>TSubstitution - Missense
CARD16ENSG00000204397ENST00000375706p.I62Sc.185T>GSubstitution - Missense
CARD16ENSG00000204397ENST00000375704p.I62Sc.185T>GSubstitution - Missense
MMP3ENSG00000149968ENST00000299855p.L262Lc.786C>GSubstitution - coding silent
OVGP1ENSG00000085465ENST00000369732p.G520_G528>VSc.1559_1582>TGAComplex - deletion inframe
NBPF20ENSG00000203832ENST00000369202p.?c.11427-80_12159-82del4759Unknown
GPR158ENSG00000151025ENST00000376351p.E1046Dc.3138G>CSubstitution - Missense
RGS6ENSG00000182732ENST00000553525p.A89Sc.265G>TSubstitution - Missense
RGS6ENSG00000182732ENST00000555571p.A89Sc.265G>TSubstitution - Missense
JDP2ENSG00000140044ENST00000419727p.A45Ac.135C>TSubstitution - coding silent
SYNMENSG00000182253ENST00000336292p.R472Qc.1415G>ASubstitution - Missense
SLC18A3ENSG00000187714ENST00000374115p.L355Lc.1063C>TSubstitution - coding silent
PRR26ENSG00000180525ENST00000441152p.Q150*c.448C>TSubstitution - Nonsense
ENST00000373120p.L544Lc.1630C>TSubstitution - coding silent
ENST00000398860p.V1913Ic.5737G>ASubstitution - Missense
NRXN2ENSG00000110076ENST00000377551p.G422Gc.1266C>TSubstitution - coding silent
LTBP3ENSG00000168056ENST00000322147p.T530Ac.1588A>GSubstitution - Missense
KCNQ4ENSG00000117013ENST00000347132p.V657Lc.1969G>CSubstitution - Missense
SZT2ENSG00000198198ENST00000562955p.P803Pc.2409G>ASubstitution - coding silent
HIPK1ENSG00000163349ENST00000369558p.I893Ic.2679C>TSubstitution - coding silent
BCL2L14ENSG00000121380ENST00000308721p.E214Kc.640G>ASubstitution - Missense
BCL2L14ENSG00000121380ENST00000266434p.E214Kc.640G>ASubstitution - Missense
BCL2L14ENSG00000121380ENST00000396369p.E214Kc.640G>ASubstitution - Missense
ANAPC5ENSG00000089053ENST00000261819p.W507Rc.1519T>CSubstitution - Missense
TTF2ENSG00000116830ENST00000369466p.G1079Gc.3237A>TSubstitution - coding silent
MLLT11ENSG00000213190ENST00000368921p.R76Kc.227G>ASubstitution - Missense
TAF5ENSG00000148835ENST00000369839p.R452Hc.1355G>ASubstitution - Missense
PGBD2ENSG00000185220ENST00000355360p.P60Pc.180C>GSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.?c.375+1G>AUnknown
TP53ENSG00000141510ENST00000413465p.?c.375+1G>AUnknown
ADH7ENSG00000196344ENST00000209665p.A292Pc.874G>CSubstitution - Missense
NM_015133.2p.D1215Nc.3643G>ASubstitution - Missense
ENST00000298047_v61p.Q3578*c.10732C>TSubstitution - Nonsense
FAT3ENSG00000165323ENST00000298047p.Q153*c.457C>TSubstitution - Nonsense
CUBNENSG00000107611ENST00000377833p.E3077Kc.9229G>ASubstitution - Missense
ZNF429ENSG00000197013ENST00000358491p.R670*c.2008C>TSubstitution - Nonsense
SEZ6LENSG00000100095ENST00000248933p.S580Sc.1740C>TSubstitution - coding silent
SLC4A10ENSG00000144290ENST00000446997p.V356Ic.1066G>ASubstitution - Missense
TNK2ENSG00000061938ENST00000333602p.P679Pc.2037G>ASubstitution - coding silent
TNK2ENSG00000061938ENST00000333602p.P679Pc.2037G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.R11010Qc.33029G>ASubstitution - Missense
ENST00000356127p.R17380Qc.52139G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.R11077Qc.33230G>ASubstitution - Missense
NSMAFENSG00000035681ENST00000427130p.V901Ic.2701G>ASubstitution - Missense
NSMAFENSG00000035681ENST00000038176p.V870Ic.2608G>ASubstitution - Missense
ARHGEF3ENSG00000163947ENST00000338458p.E440Kc.1318G>ASubstitution - Missense
ARHGEF3ENSG00000163947ENST00000296315p.E408Kc.1222G>ASubstitution - Missense
ARHGEF3ENSG00000163947ENST00000296315p.E408Kc.1222G>ASubstitution - Missense
OTTHUMT00000057224.1p.A20Tc.58G>ASubstitution - Missense
SOAT2ENSG00000167780ENST00000301466p.N389Kc.1167C>ASubstitution - Missense
BLOC1S1ENSG00000135441ENST00000548925p.Y142Yc.426T>CSubstitution - coding silent
ENSG00000258311ENST00000257899p.Y114Yc.342T>CSubstitution - coding silent
LRCH1ENSG00000136141ENST00000311191p.L263Lc.789T>CSubstitution - coding silent
DGKHENSG00000102780ENST00000337343p.?c.729+8G>CUnknown
PCDH8ENSG00000136099ENST00000377942p.S740Sc.2220C>TSubstitution - coding silent
ENST00000381852p.?c.36+6T>AUnknown
GPC6ENSG00000183098ENST00000377047p.K336Nc.1008G>CSubstitution - Missense
TRMT13ENSG00000122435ENST00000370141p.D391Hc.1171G>CSubstitution - Missense
ENSG00000150076ENST00000302316p.D54Hc.160G>CSubstitution - Missense
ZNF239ENSG00000196793ENST00000374446p.C321Fc.962G>TSubstitution - Missense
MARK1ENSG00000116141ENST00000366917p.V724Ac.2171T>CSubstitution - Missense
BPNT1ENSG00000162813ENST00000322067p.Q20Ec.58C>GSubstitution - Missense
OPN4ENSG00000122375ENST00000372071p.H365Rc.1094A>GSubstitution - Missense
ENST00000358313p.C159Yc.476G>ASubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.R499Hc.1496G>ASubstitution - Missense
PLCE1ENSG00000138193ENST00000371375p.R191Hc.572G>ASubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.R499Hc.1496G>ASubstitution - Missense
KIF11ENSG00000138160ENST00000260731p.Q690Qc.2070A>GSubstitution - coding silent
GRIK4ENSG00000149403ENST00000527524p.G474Dc.1421G>ASubstitution - Missense
DDX25ENSG00000109832ENST00000263576p.L269Vc.805C>GSubstitution - Missense
NM_013264.2p.L155Vc.463C>GSubstitution - Missense
EI24ENSG00000149547ENST00000278903p.P326Pc.978G>ASubstitution - coding silent
ROBO4ENSG00000154133ENST00000306534p.?c.3002-3C>TUnknown
CD1BENSG00000158485ENST00000368168p.G138Ac.413G>CSubstitution - Missense
PPM1HENSG00000111110ENST00000228705p.H324Rc.971A>GSubstitution - Missense
KIF5AENSG00000155980ENST00000455537p.?c.1569+4A>GUnknown
MARSENSG00000166986ENST00000262027p.L80Fc.238C>TSubstitution - Missense
C12orf56ENSG00000185306ENST00000333722p.D31Ec.93C>GSubstitution - Missense
NECAP1ENSG00000089818ENST00000339754p.P23Pc.69G>ASubstitution - coding silent
SU_OBSCN.1p.R4745Wc.14233C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.R4163Wc.12487C>TSubstitution - Missense
HIST3H3ENSG00000168148ENST00000366696p.R3Gc.7C>GSubstitution - Missense
KRT81ENSG00000205426ENST00000327741p.I249Vc.745A>GSubstitution - Missense
BNC1ENSG00000169594ENST00000345382p.S769Sc.2307C>TSubstitution - coding silent
NUMA1ENSG00000137497ENST00000393695p.P56Pc.168G>ASubstitution - coding silent
FAM86C1ENSG00000158483ENST00000346333p.P87Pc.261C>TSubstitution - coding silent
TENM4ENSG00000149256ENST00000278550p.C341Cc.1023C>TSubstitution - coding silent
AKT1ENSG00000142208ENST00000349310p.R86Hc.257G>ASubstitution - Missense


COSMIC

2 mutations reported
2 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
CDKN2AENSG00000147889ENST00000304494p.0?c.1_471del471Whole gene deletion8093026
CDKN2AENSG00000147889ENST00000304494p.?c.1_457del457Unknown7845688