Cell Line Synopsis
Cell Line Overview
Mutations
Copy Number Variation
Gene Expression
RNAi
Compound Sensitivity Profile
Similar Cell Lines

COR-L32 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

784 mutations reported
273 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
NEK2ENSG00000117650ENST00000366999p.R239Lc.716G>TSubstitution - Missense
NEK2ENSG00000117650ENST00000366999p.R239Lc.716G>TSubstitution - Missense
KRT83ENSG00000170523ENST00000293670p.C222*c.666C>ASubstitution - Nonsense
C1orf116ENSG00000182795ENST00000359470p.P186Lc.557C>TSubstitution - Missense
TEX15ENSG00000133863ENST00000256246p.A2718Vc.8153C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.R4272Cc.12814C>TSubstitution - Missense
SEMA5AENSG00000112902ENST00000382496p.T550Mc.1649C>TSubstitution - Missense
NGFENSG00000134259ENST00000369512p.R81Qc.242G>ASubstitution - Missense
ZNF217ENSG00000171940ENST00000371471p.L85Sc.254T>CSubstitution - Missense
ZNF217ENSG00000171940ENST00000371471p.L85Sc.254T>CSubstitution - Missense
OR4M1ENSG00000176299ENST00000315957p.D175Nc.523G>ASubstitution - Missense
CYLC2ENSG00000155833ENST00000374798p.E86Dc.258G>TSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.I26Ic.78C>TSubstitution - coding silent
MGAMENSG00000257335ENST00000475668p.I26Ic.78C>TSubstitution - coding silent
ENST00000389322p.I26Ic.78C>TSubstitution - coding silent
LAMP1ENSG00000185896ENST00000332556p.S47Cc.140C>GSubstitution - Missense
DYNC2H1ENSG00000187240ENST00000398093p.E565*c.1693G>TSubstitution - Nonsense
CACNA1EENSG00000198216ENST00000367573p.V1230Vc.3690C>TSubstitution - coding silent
NPLENSG00000135838ENST00000367550p.R87Cc.259C>TSubstitution - Missense
BRINP2ENSG00000198797ENST00000361539p.R698Wc.2092C>TSubstitution - Missense
RCC2ENSG00000179051ENST00000375433p.R433Rc.1299G>TSubstitution - coding silent
CD84ENSG00000066294ENST00000368054p.Y62Fc.185A>TSubstitution - Missense
NCAPD3ENSG00000151503ENST00000534548p.T676Sc.2026A>TSubstitution - Missense
TNRENSG00000116147ENST00000367674p.?c.2708-4C>AUnknown
CCDC19ENSG00000213085ENST00000368099p.Q473Ec.1417C>GSubstitution - Missense
RSC1A1ENSG00000215695ENST00000345034p.R579Cc.1735C>TSubstitution - Missense
TAGLN2ENSG00000158710ENST00000320307p.R196Lc.587G>TSubstitution - Missense
DDR2ENSG00000162733ENST00000367922p.I526Vc.1576A>GSubstitution - Missense
AGO3ENSG00000126070ENST00000373191p.A544Vc.1631C>TSubstitution - Missense
SERPINC1ENSG00000117601ENST00000367698p.K225Nc.675G>CSubstitution - Missense
BRCA2ENSG00000139618ENST00000544455p.I1349Vc.4045A>GSubstitution - Missense
ENST00000380640p.A67Ac.201T>GSubstitution - coding silent
LRRK2ENSG00000188906ENST00000298910p.L2393*c.7178T>ASubstitution - Nonsense
ATP8A2ENSG00000132932ENST00000381655p.D595Nc.1783G>ASubstitution - Missense
TACC2ENSG00000138162ENST00000453444p.P171Pc.513C>TSubstitution - coding silent
ITGBL1ENSG00000198542ENST00000376180p.Q328Lc.983A>TSubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.S340Pc.1018T>CSubstitution - Missense
DCNENSG00000011465ENST00000052754p.D237Ec.711T>ASubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.P1848Tc.5542C>ASubstitution - Missense
SSH3ENSG00000172830ENST00000308127p.G592Ac.1775G>CSubstitution - Missense
OR10A4ENSG00000170782ENST00000379829p.Y124*c.372C>ASubstitution - Nonsense
HOMEZENSG00000215271ENST00000357460p.P352Pc.1056A>GSubstitution - coding silent
HOMEZENSG00000215271ENST00000357460p.P328Pc.984A>GSubstitution - coding silent
NOVA1ENSG00000139910ENST00000539517p.A435Pc.1303G>CSubstitution - Missense
DHRS1ENSG00000157379ENST00000396813p.R265Wc.793C>TSubstitution - Missense
TECPR2ENSG00000196663ENST00000359520p.?c.481-3C>TUnknown
RNASE9ENSG00000188655ENST00000338904p.T8Kc.23C>ASubstitution - Missense
OR4M1ENSG00000176299ENST00000315957p.*314*c.941G>ASubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.Q5727Qc.17181A>GSubstitution - coding silent
PHYHENSG00000107537ENST00000263038p.K276Mc.827A>TSubstitution - Missense
KCNH3ENSG00000135519ENST00000257981p.V940Gc.2819T>GSubstitution - Missense
KRT71ENSG00000139648ENST00000267119p.D290Yc.868G>TSubstitution - Missense
KRT7ENSG00000135480ENST00000331817p.V246Lc.736G>TSubstitution - Missense
DERAENSG00000023697ENST00000428559p.R179Lc.536G>TSubstitution - Missense
HEATR1ENSG00000119285ENST00000366582p.W2062Rc.6184T>CSubstitution - Missense
ENST00000256007p.D146Yc.436G>TSubstitution - Missense
RHBGENSG00000132677ENST00000368249p.R425fs*>18c.1272_1273insCInsertion - Frameshift
NACAENSG00000196531ENST00000550952p.S30Sc.90A>TSubstitution - coding silent
RAG2ENSG00000175097ENST00000311485p.P70Lc.209C>TSubstitution - Missense
ENST00000330155p.A27Ac.81A>GSubstitution - coding silent
RRP12ENSG00000052749ENST00000370992p.G1275Vc.3824G>TSubstitution - Missense
ALX4ENSG00000052850ENST00000329255p.E402Ec.1206G>ASubstitution - coding silent
PLCE1ENSG00000138193ENST00000260766p.R1147Tc.3440G>CSubstitution - Missense
PLCE1ENSG00000138193ENST00000371375p.R839Tc.2516G>CSubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.R1147Tc.3440G>CSubstitution - Missense
KAT6BENSG00000156650ENST00000287239p.E1104_N1105insEc.3288_3289insGAAInsertion - In frame
NUTM2DENSG00000214562ENST00000412718p.V43Vc.129A>GSubstitution - coding silent
NUTM2DENSG00000214562ENST00000381697p.V43Vc.129A>GSubstitution - coding silent
ESRRGENSG00000196482ENST00000408911p.L268Lc.804G>TSubstitution - coding silent
UBE4BENSG00000130939ENST00000343090p.W283Rc.847T>ASubstitution - Missense
ZNF33BENSG00000196693ENST00000359467p.Q414Hc.1242G>TSubstitution - Missense
WSCD2ENSG00000075035ENST00000332082p.?c.383-7C>TUnknown
TDRD3ENSG00000083544ENST00000535286p.R96Pc.287G>CSubstitution - Missense
TDRD3ENSG00000083544ENST00000377894p.R3Pc.8G>CSubstitution - Missense
NM_015057.1p.T2859Mc.8576C>TSubstitution - Missense
ENST00000202788p.S15Sc.45C>GSubstitution - coding silent
ENST00000428907p.S15Sc.45C>GSubstitution - coding silent
SH2D7ENSG00000183476ENST00000328828p.P238Pc.714C>ASubstitution - coding silent
RB1ENSG00000139687ENST00000267163p.L64fs*1c.190delTDeletion - Frameshift
ENST00000333854p.R128Rc.384G>ASubstitution - coding silent
MYO16ENSG00000041515ENST00000357550p.T178Tc.534C>ASubstitution - coding silent
PARP16ENSG00000138617ENST00000261888p.S92Ac.274T>GSubstitution - Missense
XM_372532.2p.A286Ac.858C>TSubstitution - coding silent
PTPN21ENSG00000070778ENST00000328736p.A147Dc.440C>ASubstitution - Missense
ZC3H14ENSG00000100722ENST00000251038p.R104Qc.311G>ASubstitution - Missense
MOAP1ENSG00000165943ENST00000298894p.S209Rc.627C>ASubstitution - Missense
COL24A1ENSG00000171502ENST00000370571p.G1038Rc.3112G>ASubstitution - Missense
HSPA2ENSG00000126803ENST00000394709p.Y434Fc.1301A>TSubstitution - Missense
ELTD1ENSG00000162618ENST00000370742p.H398Rc.1193A>GSubstitution - Missense
MSH4ENSG00000057468ENST00000263187p.S532Sc.1596C>TSubstitution - coding silent
PKN2ENSG00000065243ENST00000316005p.V578Lc.1732G>TSubstitution - Missense
CHD5ENSG00000116254ENST00000262450p.E1626*c.4876G>TSubstitution - Nonsense
ENST00000371233p.?c.598-3T>CUnknown
DAB1ENSG00000173406ENST00000371231p.?c.598-3T>CUnknown
SRRM1ENSG00000133226ENST00000323848p.E446*c.1336G>TSubstitution - Nonsense
OR2G3ENSG00000177476ENST00000320002p.T192Tc.576C>TSubstitution - coding silent
DNAH10ENSG00000197653ENST00000409039p.V2291Vc.6873G>TSubstitution - coding silent
ENST00000280576p.V883Vc.2649G>TSubstitution - coding silent
DLG2ENSG00000150672ENST00000280241p.L578Ic.1732C>ASubstitution - Missense
DLG2ENSG00000150672ENST00000398309p.L539Ic.1615C>ASubstitution - Missense
IGFN1ENSG00000163395ENST00000335211p.?c.10486+9G>TUnknown
ELK4ENSG00000158711ENST00000289703p.M367Kc.1100T>ASubstitution - Missense
ADAM15ENSG00000143537ENST00000356955p.R562Hc.1685G>ASubstitution - Missense
OPTCENSG00000188770ENST00000367222p.A113Gc.338C>GSubstitution - Missense
SLC27A3ENSG00000143554ENST00000368661p.E13fs*5c.36delGDeletion - Frameshift
CACNA1CENSG00000151067ENST00000344100p.R425Lc.1274G>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000399617p.R425Lc.1274G>TSubstitution - Missense
S100A13ENSG00000189171ENST00000339556p.K59Qc.175A>CSubstitution - Missense
POTEB2ENSG00000230031ENST00000454856p.H97fs*33c.289delCDeletion - Frameshift
TRIM9ENSG00000100505ENST00000298355p.L530Lc.1590C>TSubstitution - coding silent
TRIM9ENSG00000100505ENST00000360392p.L530Lc.1590C>TSubstitution - coding silent
ATP5SENSG00000125375ENST00000311459p.I112Ic.336C>TSubstitution - coding silent
ATP5SENSG00000125375ENST00000358473p.I84Ic.252C>TSubstitution - coding silent
SLC1A7ENSG00000162383ENST00000371494p.R15Mc.44G>TSubstitution - Missense
FLGENSG00000143631ENST00000368799p.S3336Rc.10008T>ASubstitution - Missense
ZSCAN29ENSG00000140265ENST00000396976p.T463Nc.1388C>ASubstitution - Missense
FAM46CENSG00000183508ENST00000369448p.T329Tc.987T>ASubstitution - coding silent
SETDB1ENSG00000143379ENST00000271640p.?c.2330+2T>CUnknown
ILDR2ENSG00000143195ENST00000271417p.G167Sc.499G>ASubstitution - Missense
TRIM33ENSG00000197323ENST00000358465p.V775Vc.2325C>ASubstitution - coding silent
NM_015906p.V775Vc.2325C>ASubstitution - coding silent
LRRC43ENSG00000158113ENST00000425921p.T99Tc.297C>TSubstitution - coding silent
VPS13DENSG00000048707ENST00000358136p.D3460Dc.10380C>TSubstitution - coding silent
ZSWIM5ENSG00000162415ENST00000359600p.A70Ac.210C>ASubstitution - coding silent
TAOK3ENSG00000135090ENST00000419821p.R763Kc.2288G>ASubstitution - Missense
TAOK3ENSG00000135090ENST00000419821p.R763Kc.2288G>ASubstitution - Missense
SCYL1ENSG00000142186ENST00000270176p.H73Yc.217C>TSubstitution - Missense
SCYL1ENSG00000142186ENST00000270176p.H73Yc.217C>TSubstitution - Missense
RTN3ENSG00000133318ENST00000356000p.L177Lc.531G>TSubstitution - coding silent
RTN3ENSG00000133318ENST00000341307p.L158Lc.474G>TSubstitution - coding silent
ENST00000312452p.?c.1232+1G>CUnknown
PALD1ENSG00000107719ENST00000263563p.V111Mc.331G>ASubstitution - Missense
BICC1ENSG00000122870ENST00000373886p.?c.601-2A>GUnknown
GRIN2AENSG00000183454ENST00000396573p.Q152Hc.456G>TSubstitution - Missense
C15orf32ENSG00000183643ENST00000333334p.V51Dc.152T>ASubstitution - Missense
CUBNENSG00000107611ENST00000377833p.A2098Ac.6294A>CSubstitution - coding silent
ZFYVE1ENSG00000165861ENST00000556143p.A283Vc.848C>TSubstitution - Missense
EXD2ENSG00000081177ENST00000409014p.R168Gc.502C>GSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.G1714Gc.5142C>ASubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.G1714Gc.5142C>ASubstitution - coding silent
TAS1R2ENSG00000179002ENST00000375371p.A564Ac.1692A>TSubstitution - coding silent
AMY2AENSG00000243480ENST00000414303p.W149Cc.447G>TSubstitution - Missense
ANO3ENSG00000134343ENST00000256737p.T765Ic.2294C>TSubstitution - Missense
GRIA4ENSG00000152578ENST00000393127p.Y462Nc.1384T>ASubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.M2211Ic.6633G>ASubstitution - Missense
NM_004260.1p.S555Sc.1665G>ASubstitution - coding silent
MGAMENSG00000257335ENST00000475668p.N1956Kc.5868C>GSubstitution - Missense
STAB1ENSG00000010327ENST00000321725p.H581Yc.1741C>TSubstitution - Missense
RNF144BENSG00000137393ENST00000259939p.S290Pc.868T>CSubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.L522Fc.1564C>TSubstitution - Missense
RBM6ENSG00000004534ENST00000266022p.S211Sc.633C>TSubstitution - coding silent
OLIG2ENSG00000205927ENST00000382357p.A155Gc.464C>GSubstitution - Missense
RGS12ENSG00000159788ENST00000344733p.N783Sc.2348A>GSubstitution - Missense
CRYZL1ENSG00000205758ENST00000381554p.E263Dc.789A>CSubstitution - Missense
GSG2ENSG00000177602ENST00000325418p.F594fs*19c.1776delTDeletion - Frameshift
GSG2ENSG00000177602ENST00000325418p.F594fs*19c.1776delTDeletion - Frameshift
NLRC5ENSG00000140853ENST00000262510p.V411Vc.1233C>GSubstitution - coding silent
UGT2B11ENSG00000213759ENST00000446444p.K409Ec.1225A>GSubstitution - Missense
NOD2ENSG00000167207ENST00000300589p.F784Vc.2350T>GSubstitution - Missense
ARID5AENSG00000196843ENST00000357485p.A562Sc.1684G>TSubstitution - Missense
HTR1FENSG00000179097ENST00000319595p.V147Fc.439G>TSubstitution - Missense
ZNF823ENSG00000197933ENST00000341191p.R596Gc.1786C>GSubstitution - Missense
DSG1ENSG00000134760ENST00000257192p.D888Ec.2664T>GSubstitution - Missense
DSC3ENSG00000134762ENST00000360428p.V745Lc.2233G>CSubstitution - Missense
NM_015461.1p.R497Rc.1489C>ASubstitution - coding silent
TDRD7ENSG00000196116ENST00000355295p.D621Yc.1861G>TSubstitution - Missense
MATN2ENSG00000132561ENST00000520016p.E825Kc.2473G>ASubstitution - Missense
MATN2ENSG00000132561ENST00000520016p.E825Kc.2473G>ASubstitution - Missense
WWP1ENSG00000123124ENST00000517970p.G719Gc.2157C>GSubstitution - coding silent
NM_001831.2p.R246Sc.738G>CSubstitution - Missense
SORBS3ENSG00000120896ENST00000240123p.R656Sc.1968G>CSubstitution - Missense
PIWIL2ENSG00000197181ENST00000356766p.R97Gc.289A>GSubstitution - Missense
ENST00000399933_v61p.S231*c.692C>ASubstitution - Nonsense
CACNA2D3ENSG00000157445ENST00000474759p.S846Pc.2536T>CSubstitution - Missense
DOCK8ENSG00000107099ENST00000453981p.?c.6069-1G>TUnknown
TRPM3ENSG00000083067ENST00000377110p.F1203Lc.3609C>ASubstitution - Missense
TRPM3ENSG00000083067ENST00000377106p.F1075Lc.3225C>ASubstitution - Missense
RAE1ENSG00000101146ENST00000395841p.L167Lc.501G>ASubstitution - coding silent
GRM8ENSG00000179603ENST00000339582p.L885Lc.2655C>ASubstitution - coding silent
LMOD2ENSG00000170807ENST00000458573p.N177Dc.529A>GSubstitution - Missense
AKR1B10ENSG00000198074ENST00000359579p.S23Sc.69T>ASubstitution - coding silent
SLC9A8ENSG00000197818ENST00000361573p.F269Fc.807T>CSubstitution - coding silent
SIGLEC7ENSG00000168995ENST00000317643p.G445Wc.1333G>TSubstitution - Missense
SIGLEC12ENSG00000254521ENST00000291707p.P550Pc.1650G>CSubstitution - coding silent
EPB41L1ENSG00000088367ENST00000338074p.R516fs*3c.1542delCDeletion - Frameshift
ASPDHENSG00000204653ENST00000376916p.G2Ec.5G>ASubstitution - Missense
ZNF556ENSG00000172000ENST00000307635p.Y379Yc.1137T>CSubstitution - coding silent
ZNF98ENSG00000197360ENST00000357774p.R535*c.1603A>TSubstitution - Nonsense
ZNF98ENSG00000197360ENST00000357774p.R535*c.1603A>TSubstitution - Nonsense
EXOC7ENSG00000182473ENST00000357231p.V207Vc.621G>TSubstitution - coding silent
BHLHB9ENSG00000198908ENST00000457056p.T31Ac.91A>GSubstitution - Missense
WDR81ENSG00000167716ENST00000309182p.V652Vc.1956G>TSubstitution - coding silent
PTBP1ENSG00000011304ENST00000356948p.S285Nc.854G>ASubstitution - Missense
NM_000828.2p.G565Ac.1694G>CSubstitution - Missense
ACER1ENSG00000167769ENST00000301452p.I126Ic.378C>TSubstitution - coding silent
TNS1ENSG00000079308ENST00000171887p.N1605Sc.4814A>GSubstitution - Missense
APOBENSG00000084674ENST00000233242p.L406Ic.1216C>ASubstitution - Missense
COL5A2ENSG00000204262ENST00000374866p.G270Gc.810C>ASubstitution - coding silent
BANF2ENSG00000125888ENST00000545418p.T44Tc.132C>GSubstitution - coding silent
BANF2ENSG00000125888ENST00000246090p.T37Tc.111C>GSubstitution - coding silent
TBX21ENSG00000073861ENST00000177694p.G240Rc.718G>ASubstitution - Missense
ZNF266ENSG00000174652ENST00000361151p.S337Sc.1011A>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.I4535fs*1c.13601delCDeletion - Frameshift
CNTNAP4ENSG00000152910ENST00000307431p.?c.2533+8T>CUnknown
MEIS2ENSG00000134138ENST00000561208p.P337Pc.1011C>TSubstitution - coding silent
TUBA3CENSG00000198033ENST00000400113p.V182Lc.544G>CSubstitution - Missense
TUBA3CENSG00000198033ENST00000400113p.V181Vc.543G>CSubstitution - coding silent
GBP7ENSG00000213512ENST00000294671p.S166Yc.497C>ASubstitution - Missense
TXNRD3ENSG00000197763ENST00000524230p.S494Tc.1480T>ASubstitution - Missense
ZBED4ENSG00000100426ENST00000216268p.S674Ac.2020T>GSubstitution - Missense
CYP27A1ENSG00000135929ENST00000258415p.A254Tc.760G>ASubstitution - Missense
DPP10ENSG00000175497ENST00000410059p.L48Fc.142C>TSubstitution - Missense
ACE2ENSG00000130234ENST00000252519p.W635Lc.1904G>TSubstitution - Missense
ZNF804BENSG00000182348ENST00000333190p.L1173Lc.3519C>ASubstitution - coding silent
ARSFENSG00000062096ENST00000381127p.D176Dc.528C>TSubstitution - coding silent
RSBN1LENSG00000187257ENST00000334955p.?c.704-1G>TUnknown
PCLOENSG00000186472ENST00000333891p.A895Sc.2683G>TSubstitution - Missense
IGF2RENSG00000197081ENST00000356956p.S2229Pc.6685T>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.G8732Vc.26195G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.G8684Vc.26051G>TSubstitution - Missense
ADAMTS12ENSG00000151388ENST00000504830p.R690Cc.2068C>TSubstitution - Missense
SDHAENSG00000073578ENST00000264932p.G112Rc.334G>CSubstitution - Missense
TNIP3ENSG00000050730ENST00000057513p.E196Dc.588A>TSubstitution - Missense
FLT4ENSG00000037280ENST00000393347p.?c.2407-10C>GUnknown
ENST00000376868p.?c.1837-10C>GUnknown
ADAD1ENSG00000164113ENST00000296513p.P263Rc.788C>GSubstitution - Missense
SPRENSG00000116096ENST00000234454p.K251*c.751A>TSubstitution - Nonsense
REG1BENSG00000172023ENST00000305089p.W149Rc.445T>ASubstitution - Missense
SLC12A7ENSG00000113504ENST00000264930p.L155Fc.463C>TSubstitution - Missense
VILLENSG00000136059ENST00000283713p.?c.451-5G>AUnknown
GRID2ENSG00000152208ENST00000282020p.A563Pc.1687G>CSubstitution - Missense
EXOGENSG00000157036ENST00000358249p.P100Pc.300G>ASubstitution - coding silent
ABCA8ENSG00000141338ENST00000269080p.G955Rc.2863G>CSubstitution - Missense
ZNF671ENSG00000083814ENST00000317398p.S44Sc.132C>ASubstitution - coding silent
ZNF17ENSG00000186272ENST00000307658p.E243Qc.727G>CSubstitution - Missense
NLRP9ENSG00000185792ENST00000332836p.S769Sc.2307A>GSubstitution - coding silent
SFRP1ENSG00000104332ENST00000220772p.L264Pc.791T>CSubstitution - Missense
UNC5DENSG00000156687ENST00000287272p.C707Fc.2120G>TSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.T553Ac.1657A>GSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.T553Ac.1657A>GSubstitution - Missense
UNC5DENSG00000156687ENST00000404895p.P79Qc.236C>ASubstitution - Missense
UNC5DENSG00000156687ENST00000287272p.P74Qc.221C>ASubstitution - Missense
IBSPENSG00000029559ENST00000226284p.D117Dc.351C>TSubstitution - coding silent
AGPAT9ENSG00000138678ENST00000395226p.H251Pc.752A>CSubstitution - Missense
POTEDENSG00000166351ENST00000299443p.I265Vc.793A>GSubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.A1203Tc.3607G>ASubstitution - Missense
RTEL1ENSG00000258366ENST00000370018p.S274Lc.821C>TSubstitution - Missense
RTEL1ENSG00000258366ENST00000318100p.S274Lc.821C>TSubstitution - Missense
LILRA6ENSG00000244482ENST00000396365p.L256Lc.768G>TSubstitution - coding silent
ZCCHC14ENSG00000140948ENST00000268616p.V137Lc.409G>TSubstitution - Missense
JPH3ENSG00000154118ENST00000284262p.E368Dc.1104G>CSubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.R1769Pc.5306G>CSubstitution - Missense
INPP4AENSG00000040933ENST00000074304p.S118Yc.353C>ASubstitution - Missense
ITGADENSG00000156886ENST00000389202p.V804Ac.2411T>CSubstitution - Missense
STK25ENSG00000115694ENST00000316586p.R222Pc.665G>CSubstitution - Missense
HECW2ENSG00000138411ENST00000260983p.T833Tc.2499G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.P10149Tc.30445C>ASubstitution - Missense
ENST00000356127p.P10149Tc.30445C>ASubstitution - Missense
KIF1AENSG00000130294ENST00000320389p.R477Kc.1430G>ASubstitution - Missense
ENSG00000196758ENST00000358775p.A91Ec.272C>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.R17968Tc.53903G>CSubstitution - Missense
ENST00000356127p.R24338Tc.73013G>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.R18035Tc.54104G>CSubstitution - Missense
NM_003319p.R17843Tc.53528G>CSubstitution - Missense
TGM6ENSG00000166948ENST00000202625p.D693Gc.2078A>GSubstitution - Missense
ARHGEF15ENSG00000198844ENST00000361926p.R484Rc.1452C>GSubstitution - coding silent
EPB41L3ENSG00000082397ENST00000341928p.A874Ac.2622G>ASubstitution - coding silent
EPB41L3ENSG00000082397ENST00000341928p.R129Gc.385C>GSubstitution - Missense
NM_007332.1p.C59Fc.176G>TSubstitution - Missense
SLC7A2ENSG00000003989ENST00000470360p.P25Pc.75G>TSubstitution - coding silent
PPP1R9AENSG00000158528ENST00000433360p.A1260Ac.3780C>GSubstitution - coding silent
XM_374491.1p.A1208Ac.3624C>GSubstitution - coding silent
IKENSG00000113141ENST00000417647p.?c.1196-2A>GUnknown
PCDHB7ENSG00000113212ENST00000231137p.S568Rc.1702A>CSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.K1489Nc.4467A>TSubstitution - Missense
PCDHA2ENSG00000204969ENST00000526136p.V418Mc.1252G>ASubstitution - Missense
CYP2A6ENSG00000255974ENST00000301141p.I132Ic.396C>ASubstitution - coding silent
DAPK1ENSG00000196730ENST00000469640p.G980Cc.2938G>TSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.P824Tc.2470C>ASubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.P824Tc.2470C>ASubstitution - Missense
SEMA4DENSG00000187764ENST00000450295p.G226Rc.676G>CSubstitution - Missense
NOTCH1ENSG00000148400ENST00000277541p.P743Tc.2227C>ASubstitution - Missense
NOTCH1ENSG00000148400ENST00000277541p.P743Tc.2227C>ASubstitution - Missense
PCDHGA8ENSG00000253767ENST00000398604p.P160Pc.480G>TSubstitution - coding silent
YIPF5ENSG00000145817ENST00000274496p.P113Tc.337C>ASubstitution - Missense
SERPINI2ENSG00000114204ENST00000476257p.Q78Hc.234G>TSubstitution - Missense
THEGENSG00000105549ENST00000342640p.R335Rc.1003C>ASubstitution - coding silent
GAPDHSENSG00000105679ENST00000222286p.P326Tc.976C>ASubstitution - Missense
GHDCENSG00000167925ENST00000414034p.T354Tc.1062G>CSubstitution - coding silent
STON1-GTF2A1LENSG00000068781ENST00000394754p.*1183Yc.3549A>TNonstop extension
SLFN11ENSG00000172716ENST00000394566p.G59Ec.176G>ASubstitution - Missense
CCT6BENSG00000132141ENST00000314144p.H506Qc.1518C>GSubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.L1202Lc.3606G>CSubstitution - coding silent
NKAIN2ENSG00000188580ENST00000368416p.A178Ac.534G>ASubstitution - coding silent
COL14A1ENSG00000187955ENST00000297848p.P646Sc.1936C>TSubstitution - Missense
DSTENSG00000151914ENST00000244364p.Y399Yc.1197T>CSubstitution - coding silent
DSTENSG00000151914ENST00000370765p.Y399Yc.1197T>CSubstitution - coding silent
DSTENSG00000151914ENST00000370769p.Y725Yc.2175T>CSubstitution - coding silent
TSPYL1ENSG00000189241ENST00000368608p.M229Ic.687G>CSubstitution - Missense
COL9A1ENSG00000112280ENST00000320755p.P251Tc.751C>ASubstitution - Missense
GRIN3BENSG00000116032ENST00000234389p.H681Nc.2041C>ASubstitution - Missense
COL5A3ENSG00000080573ENST00000264828p.P411Hc.1232C>ASubstitution - Missense
CNN2ENSG00000064666ENST00000263097p.T118Mc.353C>TSubstitution - Missense
CCNHENSG00000134480ENST00000256897p.C32Fc.95G>TSubstitution - Missense
EDNRAENSG00000151617ENST00000324300p.N339Kc.1017C>ASubstitution - Missense
GAB1ENSG00000109458ENST00000262995p.A280Ac.840A>GSubstitution - coding silent
DCHS2ENSG00000197410ENST00000357232p.V1076Ac.3227T>CSubstitution - Missense
CASRENSG00000036828ENST00000296154p.I614Fc.1840A>TSubstitution - Missense
KPNA1ENSG00000114030ENST00000344337p.Q490Rc.1469A>GSubstitution - Missense
C3orf30ENSG00000163424ENST00000295622p.Y340Cc.1019A>GSubstitution - Missense
ADPRHENSG00000144843ENST00000357003p.Y222Sc.665A>CSubstitution - Missense
ZBTB38ENSG00000177311ENST00000514251p.L74Mc.220C>ASubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.?c.10638+5G>TUnknown
SPHK2ENSG00000063176ENST00000245222p.R133Rc.399C>TSubstitution - coding silent
PLEKHA4ENSG00000105559ENST00000263265p.R771Gc.2311C>GSubstitution - Missense
ENST00000427965p.K450Kc.1350G>ASubstitution - coding silent
FLYWCH2ENSG00000162076ENST00000293981p.L80Lc.240C>TSubstitution - coding silent
GTF3C1ENSG00000077235ENST00000356183p.R1818Wc.5452C>TSubstitution - Missense
PBDC1ENSG00000102390ENST00000373358p.?c.96+1G>AUnknown
RPS6KA6ENSG00000072133ENST00000262752p.V128Lc.382G>TSubstitution - Missense
COLGALT1ENSG00000130309ENST00000252599p.R507Cc.1519C>TSubstitution - Missense
NM_139238.1p.R640Wc.1918C>TSubstitution - Missense
FREM1ENSG00000164946ENST00000422223p.A1984Sc.5950G>TSubstitution - Missense
ASLENSG00000126522ENST00000304874p.Y45Yc.135C>TSubstitution - coding silent
WBSCR16ENSG00000174374ENST00000329959p.L121Pc.362T>CSubstitution - Missense
NAPEPLDENSG00000161048ENST00000341533p.A133Ac.399C>ASubstitution - coding silent
NAPEPLDENSG00000161048ENST00000455523p.A206Ac.618C>ASubstitution - coding silent
NM_001371.1p.S1932Ac.5794T>GSubstitution - Missense
ENST00000338626p.G131Vc.392G>TSubstitution - Missense
ARHGEF28ENSG00000214944ENST00000287898p.P285fs*15c.849delTDeletion - Frameshift
BDP1ENSG00000145734ENST00000358731p.S1357Rc.4069A>CSubstitution - Missense
ACKR2ENSG00000144648ENST00000442925p.V120Vc.360G>ASubstitution - coding silent
RSAD2ENSG00000134321ENST00000382040p.V290Lc.868G>TSubstitution - Missense
DIRC2ENSG00000138463ENST00000261038p.S170Cc.509C>GSubstitution - Missense
ENST00000344062p.R256Wc.766C>TSubstitution - Missense
CAND2ENSG00000144712ENST00000295989p.V929Vc.2787C>TSubstitution - coding silent
CACNA1EENSG00000198216ENST00000357570p.V1181Vc.3543C>TSubstitution - coding silent
RGS12ENSG00000159788ENST00000306648p.N181Sc.542A>GSubstitution - Missense
OR5F1ENSG00000149133ENST00000278409p.T10fs*7c.29_32delCTGADeletion - Frameshift
SPHK2ENSG00000063176ENST00000340932p.R97Rc.291C>TSubstitution - coding silent
ITSN1ENSG00000205726ENST00000381285p.P1097Sc.3289C>TSubstitution - Missense
UPF1ENSG00000005007ENST00000599848p.T507Kc.1520C>ASubstitution - Missense
VAV1ENSG00000141968ENST00000602142p.C434Yc.1301G>ASubstitution - Missense
KIR2DL3ENSG00000243772ENST00000434419p.N178Nc.534C>TSubstitution - coding silent
NLRP9ENSG00000185792ENST00000590200p.S769Sc.2307A>GSubstitution - coding silent
EPB41L3ENSG00000082397ENST00000544123p.A705Ac.2115G>ASubstitution - coding silent
EPB41L3ENSG00000082397ENST00000542146p.A179Ac.537G>ASubstitution - coding silent
EPB41L3ENSG00000082397ENST00000544123p.R129Gc.385C>GSubstitution - Missense
CHD5ENSG00000116254ENST00000378021p.E483*c.1447G>TSubstitution - Nonsense
DNAJC6ENSG00000116675ENST00000371069p.?c.344+1G>CUnknown
SNRPNENSG00000128739ENST00000444203p.G121Cc.361G>TSubstitution - Missense
ENST00000263187_v70p.S532Sc.1596C>TSubstitution - coding silent
ENST00000367531p.?c.1335+9G>TUnknown
RYR2ENSG00000198626ENST00000360064p.P1846Tc.5536C>ASubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.L3212Hc.9635T>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000367567p.V837Vc.2511C>TSubstitution - coding silent
CACNA1EENSG00000198216ENST00000367567p.V1462Lc.4384G>TSubstitution - Missense
USH2AENSG00000042781ENST00000366942p.R1091Rc.3273G>ASubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.R1091Rc.3273G>ASubstitution - coding silent
ESRRGENSG00000196482ENST00000391890p.L252Lc.756G>TSubstitution - coding silent
ARHGEF2ENSG00000116584ENST00000368315p.R401Cc.1201C>TSubstitution - Missense
SETDB1ENSG00000143379ENST00000498193p.?c.2330+2T>CUnknown
DENND2CENSG00000175984ENST00000393274p.S644Nc.1931G>ASubstitution - Missense
OR5T1ENSG00000181698ENST00000313033p.P150Rc.449C>GSubstitution - Missense
WSCD2ENSG00000075035ENST00000261400p.?c.383-7C>TUnknown
GLIPR1L1ENSG00000173401ENST00000378695p.?c.522-3C>AUnknown
OR8H3ENSG00000181761ENST00000313472p.P148Hc.443C>ASubstitution - Missense
OR5J2ENSG00000174957ENST00000312298p.M45Ic.135G>TSubstitution - Missense
SERPING1ENSG00000149131ENST00000278407p.F418Lc.1254C>ASubstitution - Missense
HBE1ENSG00000213931ENST00000380237p.?c.316-1G>CUnknown
TRIM49BENSG00000182053ENST00000332682p.V345Ic.1033G>ASubstitution - Missense
TP53ENSG00000141510ENST00000420246p.T125Tc.375G>TSubstitution - coding silent
ZNF318ENSG00000171467ENST00000361428p.R1944Ic.5831G>TSubstitution - Missense
DDX4ENSG00000152670ENST00000505374p.N705Nc.2115C>TSubstitution - coding silent
MARCH1ENSG00000145416ENST00000503008p.G26Vc.77G>TSubstitution - Missense
LAMC3ENSG00000050555ENST00000361069p.G361Gc.1083G>ASubstitution - coding silent
AIF1LENSG00000126878ENST00000372309p.E80Kc.238G>ASubstitution - Missense
AIF1LENSG00000126878ENST00000247291p.E54Kc.160G>ASubstitution - Missense
DENND1AENSG00000119522ENST00000373624p.N287Nc.861C>TSubstitution - coding silent
DENND1AENSG00000119522ENST00000394219p.N255Nc.765C>TSubstitution - coding silent
FAM135BENSG00000147724ENST00000395297p.R725Gc.2173C>GSubstitution - Missense
LRRC6ENSG00000129295ENST00000250173p.K436Kc.1308A>GSubstitution - coding silent
POU5F1BENSG00000212993ENST00000465342p.P86Pc.258C>TSubstitution - coding silent
FAM135BENSG00000147724ENST00000395297p.R725Gc.2173C>GSubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.P2290Pc.6870A>TSubstitution - coding silent
NM_002847.2p.?c.2837+6T>AUnknown
PTPRN2ENSG00000155093ENST00000404321p.?c.2906+6T>AUnknown
RIMS4ENSG00000101098ENST00000372851p.S89Sc.267G>ASubstitution - coding silent
WFDC5ENSG00000175121ENST00000307971p.R87Hc.260G>ASubstitution - Missense
GTDC1ENSG00000121964ENST00000392869p.G275Gc.825T>ASubstitution - coding silent
ORC4ENSG00000115947ENST00000264169p.C16Yc.47G>ASubstitution - Missense
USP31ENSG00000103404ENST00000219689p.E651*c.1951G>TSubstitution - Nonsense
CPAMD8ENSG00000160111ENST00000291440p.V1300Mc.3898G>ASubstitution - Missense
TNRC18ENSG00000182095ENST00000430969p.S2694Sc.8082C>TSubstitution - coding silent
ENST00000288841p.P1207Lc.3620C>TSubstitution - Missense
ABCB8ENSG00000197150ENST00000358849p.V499Lc.1495G>TSubstitution - Missense
THSD7AENSG00000005108ENST00000423059p.E365Kc.1093G>ASubstitution - Missense
RIPK1ENSG00000137275ENST00000259808p.P486Sc.1456C>TSubstitution - Missense
ENST00000305759p.G363Ec.1088G>ASubstitution - Missense
POM121L2ENSG00000158553ENST00000444565p.A1007Tc.3019G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.A2952Pc.8854G>CSubstitution - Missense
PNPLA1ENSG00000180316ENST00000457797p.?c.1472+4A>TUnknown
LPPENSG00000145012ENST00000312675p.I356Vc.1066A>GSubstitution - Missense
FMR1NBENSG00000176988ENST00000370467p.G253Vc.758G>TSubstitution - Missense
TNS3ENSG00000136205ENST00000311160p.D781Dc.2343C>TSubstitution - coding silent
ACTR3BENSG00000133627ENST00000256001p.?c.101-8T>GUnknown
CHAF1AENSG00000167670ENST00000301280p.E399*c.1195G>TSubstitution - Nonsense
COL15A1ENSG00000204291ENST00000375001p.K998Mc.2993A>TSubstitution - Missense
GHDCENSG00000167925ENST00000301671p.T354Tc.1062G>CSubstitution - coding silent
NSUN2ENSG00000037474ENST00000264670p.Q402Hc.1206G>TSubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.F153fs*3c.458delTDeletion - Frameshift
SYNE1ENSG00000131018ENST00000265368p.A2913Pc.8737G>CSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.G1194Dc.3581G>ASubstitution - Missense
AMPD3ENSG00000133805ENST00000396554p.R411Lc.1232G>TSubstitution - Missense
IREB2ENSG00000136381ENST00000258886p.E730Ec.2190G>ASubstitution - coding silent
ATRNL1ENSG00000107518ENST00000355044p.V710Mc.2128G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.G8344Vc.25031G>TSubstitution - Missense
IL23RENSG00000162594ENST00000347310p.P447Pc.1341T>CSubstitution - coding silent
WFS1ENSG00000109501ENST00000226760p.A750Ac.2250C>TSubstitution - coding silent
ABCA2ENSG00000107331ENST00000341511p.T2197Tc.6591G>ASubstitution - coding silent
ALDH1L1ENSG00000144908ENST00000393434p.Y408Yc.1224C>TSubstitution - coding silent
PLCH1ENSG00000114805ENST00000340059p.K1284Ec.3850A>GSubstitution - Missense
PDLIM5ENSG00000163110ENST00000318007p.R200Lc.599G>TSubstitution - Missense
CCDC37ENSG00000163885ENST00000352312p.E412Ec.1236G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.R24340Tc.73019G>CSubstitution - Missense
ST8SIA5ENSG00000101638ENST00000315087p.P279Pc.837G>TSubstitution - coding silent
LRRC16AENSG00000079691ENST00000329474p.D18Gc.53A>GSubstitution - Missense
ZMYND10ENSG00000004838ENST00000360165p.P221Pc.663A>TSubstitution - coding silent
GRIA3ENSG00000125675ENST00000371256p.G565Ac.1694G>CSubstitution - Missense
TRPM3ENSG00000083067ENST00000377105p.F1062Lc.3186C>ASubstitution - Missense
MYO5CENSG00000128833ENST00000261839p.?c.4821-7C>TUnknown
MEIS2ENSG00000134138ENST00000424352p.P337Pc.1011C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000347598p.R425Lc.1274G>TSubstitution - Missense
RHBGENSG00000132677ENST00000400992p.R393fs*>18c.1176_1177insCInsertion - Frameshift
CCDC147ENSG00000120051ENST00000369704p.S719Nc.2156G>ASubstitution - Missense
FURINENSG00000140564ENST00000268171p.V397Vc.1191G>CSubstitution - coding silent
TARBP1ENSG00000059588ENST00000040877p.E1513*c.4537G>TSubstitution - Nonsense
ABCA8ENSG00000141338ENST00000430352p.G995Rc.2983G>CSubstitution - Missense
CARKDENSG00000213995ENST00000309957p.R370Wc.1108C>TSubstitution - Missense
ZNF746ENSG00000181220ENST00000340622p.Q332Hc.996G>TSubstitution - Missense
ATP1A3ENSG00000105409ENST00000302102p.P647Sc.1939C>TSubstitution - Missense
MAGEC1ENSG00000155495ENST00000285879p.P54Hc.161C>ASubstitution - Missense
PKD1L1ENSG00000158683ENST00000289672p.D521Yc.1561G>TSubstitution - Missense
ENPP6ENSG00000164303ENST00000296741p.V298Ac.893T>CSubstitution - Missense
CYLC2ENSG00000155833ENST00000374798p.R87*c.259A>TSubstitution - Nonsense
DPP10ENSG00000175497ENST00000310323p.L41Fc.121C>TSubstitution - Missense
ENST00000250872p.E743Vc.2228A>TSubstitution - Missense
ABI3BPENSG00000154175ENST00000383691p.R228Rc.684T>ASubstitution - coding silent
ZC3HAV1ENSG00000105939ENST00000242351p.I422Ic.1266C>TSubstitution - coding silent
TCEAL3ENSG00000196507ENST00000372628p.Q130Lc.389A>TSubstitution - Missense
KIAA0586ENSG00000100578ENST00000261244p.E39*c.115G>TSubstitution - Nonsense
KIAA0586ENSG00000100578ENST00000354386p.E51*c.151G>TSubstitution - Nonsense
TRIP11ENSG00000100815ENST00000267622p.E1027*c.3079G>TSubstitution - Nonsense
SU_LRRK2p.L2400*c.7199T>ASubstitution - Nonsense
PBDC1ENSG00000102390ENST00000373357p.?c.96+1G>AUnknown
MYCBP2ENSG00000005810ENST00000360084p.T382Mc.1145C>TSubstitution - Missense
C8orf34ENSG00000165084ENST00000325233p.S68Pc.202T>CSubstitution - Missense
ENST00000328843_v70p.?c.5800-6A>GUnknown
SYNE1ENSG00000131018ENST00000448038p.A2920Pc.8758G>CSubstitution - Missense
COL9A1ENSG00000112280ENST00000370499p.P251Tc.751C>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.S2149Ac.6445T>GSubstitution - Missense
PDLIM5ENSG00000163110ENST00000538141p.R200Lc.599G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.G8684Vc.26051G>TSubstitution - Missense
CACNA1EENSG00000198216ENST00000357570p.V1806Lc.5416G>TSubstitution - Missense
TMC1ENSG00000165091ENST00000297784p.M649Ic.1947G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.S1932Ac.5794T>GSubstitution - Missense
RASGRF2ENSG00000113319ENST00000265080p.R646Lc.1937G>TSubstitution - Missense
CAND2ENSG00000144712ENST00000456430p.V1046Vc.3138C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.A2920Pc.8758G>CSubstitution - Missense
CCNT2ENSG00000082258ENST00000264157p.R10Cc.28C>TSubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.L522Fc.1564C>TSubstitution - Missense
EMC8ENSG00000131148ENST00000253457p.V26Fc.76G>TSubstitution - Missense
ZNF337ENSG00000130684ENST00000376436p.G641Vc.1922G>TSubstitution - Missense
FEZF2ENSG00000153266ENST00000283268p.C282*c.846C>ASubstitution - Nonsense
PSAPL1ENSG00000178597ENST00000319098p.P218Hc.653C>ASubstitution - Missense
ENST00000327867p.G207Cc.619G>TSubstitution - Missense
DSC3ENSG00000134762ENST00000434452p.V745Lc.2233G>CSubstitution - Missense
LRRC37A3ENSG00000176809ENST00000319651p.E36Kc.106G>ASubstitution - Missense
TRPM3ENSG00000083067ENST00000423814p.F1207Lc.3621C>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.P12673Lc.38018C>TSubstitution - Missense
DOCK11ENSG00000147251ENST00000276202p.R1273Cc.3817C>TSubstitution - Missense
ENST00000331986p.I168fs*1c.500delCDeletion - Frameshift
DSCAML1ENSG00000177103ENST00000321322p.R970Pc.2909G>CSubstitution - Missense
ARHGEF2ENSG00000116584ENST00000313695p.R372Cc.1114C>TSubstitution - Missense
LRRC43ENSG00000158113ENST00000339777p.T284Tc.852C>TSubstitution - coding silent
IGSF3ENSG00000143061ENST00000369483p.E659Gc.1976A>GSubstitution - Missense
PAX2ENSG00000075891ENST00000361791p.P394Pc.1182G>TSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.R4272Cc.12814C>TSubstitution - Missense
ENST00000411702p.P2761Lc.8282C>TSubstitution - Missense
ENST00000334646p.A27Ac.81A>GSubstitution - coding silent
NEIL1ENSG00000140398ENST00000355059p.G386Ec.1157G>ASubstitution - Missense
UBR4ENSG00000127481ENST00000375267p.V1350Fc.4048G>TSubstitution - Missense
KIAA0947ENSG00000164151ENST00000296564p.E1952Gc.5855A>GSubstitution - Missense
COL11A2ENSG00000204248ENST00000341947p.V1682Fc.5044G>TSubstitution - Missense
TBX18ENSG00000112837ENST00000369663p.T301Sc.901A>TSubstitution - Missense
HRH1ENSG00000196639ENST00000397056p.Y65Dc.193T>GSubstitution - Missense
SMCO1ENSG00000214097ENST00000397537p.M71Ic.213G>TSubstitution - Missense
ZNF343ENSG00000088876ENST00000278772p.C355Yc.1064G>ASubstitution - Missense
LRRC4ENSG00000128594ENST00000249363p.L217Lc.651G>TSubstitution - coding silent
KDM4BENSG00000127663ENST00000159111p.I816Mc.2448C>GSubstitution - Missense
ENSG00000212997ENST00000391679p.L44Lc.132C>ASubstitution - coding silent
COL4A2ENSG00000134871ENST00000360467p.L623Lc.1869G>CSubstitution - coding silent
UNC79ENSG00000133958ENST00000256339p.Y769Yc.2307C>TSubstitution - coding silent
ENST00000429478p.Y501*c.1503C>ASubstitution - Nonsense
FLGENSG00000143631ENST00000368799p.R3743Rc.11227C>ASubstitution - coding silent
PTGS2ENSG00000073756ENST00000367468p.V487Vc.1461G>TSubstitution - coding silent
EXD2ENSG00000081177ENST00000312994p.R293Gc.877C>GSubstitution - Missense
SYT9ENSG00000170743ENST00000318881p.S163Sc.489G>TSubstitution - coding silent
MYCBP2ENSG00000005810ENST00000407578p.T2897Mc.8690C>TSubstitution - Missense
MAPKAPK5ENSG00000089022ENST00000551404p.S15Sc.45C>GSubstitution - coding silent
KIR2DL3ENSG00000243772ENST00000342376p.N178Nc.534C>TSubstitution - coding silent
TAGLN2ENSG00000158710ENST00000368096p.R217Lc.650G>TSubstitution - Missense
TKTL1ENSG00000007350ENST00000369915p.E544Kc.1630G>ASubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.?c.5800-6A>GUnknown
IFT122ENSG00000163913ENST00000296266p.V513Vc.1539G>ASubstitution - coding silent
UNC5DENSG00000156687ENST00000404895p.C712Fc.2135G>TSubstitution - Missense
ENST00000399313p.D18Gc.53A>GSubstitution - Missense
LRRC16AENSG00000079691ENST00000329474p.R137Lc.410G>TSubstitution - Missense
ITSN1ENSG00000205726ENST00000381318p.P1097Sc.3289C>TSubstitution - Missense
SBNO2ENSG00000064932ENST00000361757p.E736Vc.2207A>TSubstitution - Missense
SYT4ENSG00000132872ENST00000255224p.V171Vc.513G>TSubstitution - coding silent
DLG2ENSG00000150672ENST00000418306p.L436Ic.1306C>ASubstitution - Missense
C1orf173ENSG00000178965ENST00000326665p.S1135Sc.3405T>CSubstitution - coding silent
RGL1ENSG00000143344ENST00000304685p.?c.1335+9G>TUnknown
PAX2ENSG00000075891ENST00000428433p.A390Sc.1168G>TSubstitution - Missense
MYH6ENSG00000197616ENST00000356287p.S1838Sc.5514G>ASubstitution - coding silent
DDX51ENSG00000185163ENST00000397333p.D570Gc.1709A>GSubstitution - Missense
LRRIQ1ENSG00000133640ENST00000393217p.D146Yc.436G>TSubstitution - Missense
GRM6ENSG00000113262ENST00000231188p.W538Gc.1612T>GSubstitution - Missense
ABCB5ENSG00000004846ENST00000404938p.A327Tc.979G>ASubstitution - Missense
SMTNENSG00000183963ENST00000358743p.G636Rc.1906G>CSubstitution - Missense
FPR2ENSG00000171049ENST00000340023p.S237Rc.711C>ASubstitution - Missense
NPRL2ENSG00000114388ENST00000232501p.N243Sc.728A>GSubstitution - Missense
WDR91ENSG00000105875ENST00000354475p.?c.594+4T>GUnknown
DNAJC6ENSG00000116675ENST00000395325p.?c.173+1G>CUnknown
MEIS2ENSG00000134138ENST00000561208p.Y391Nc.1171T>ASubstitution - Missense
ENST00000553905p.I84Ic.252C>TSubstitution - coding silent
ST18ENSG00000147488ENST00000276480p.?c.2445-3T>CUnknown
SYT9ENSG00000170743ENST00000318881p.P334Hc.1001C>ASubstitution - Missense
SNRPNENSG00000128739ENST00000400100p.G117Cc.349G>TSubstitution - Missense
NAMPTLENSG00000229644ENST00000440465p.W234*c.702G>ASubstitution - Nonsense
OR10S1ENSG00000196248ENST00000531945p.R241Lc.722G>TSubstitution - Missense
INPP4AENSG00000040933ENST00000545415p.S118Yc.353C>ASubstitution - Missense
MPP2ENSG00000108852ENST00000461854p.I188Ic.564C>TSubstitution - coding silent
ADCK4ENSG00000123815ENST00000324464p.R320Wc.958C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.T125Tc.375G>TSubstitution - coding silent
TINAGENSG00000137251ENST00000259782p.R452Qc.1355G>ASubstitution - Missense
TNRC18ENSG00000182095ENST00000430969p.S2694Sc.8082C>TSubstitution - coding silent
DSTENSG00000151914ENST00000370765p.Y399Yc.1197T>CSubstitution - coding silent
SYNJ2ENSG00000078269ENST00000355585p.C683Cc.2049T>CSubstitution - coding silent
PNPLA1ENSG00000180316ENST00000394571p.?c.1469+4A>TUnknown
PNPLA1ENSG00000180316ENST00000388715p.?c.1184+4A>TUnknown
ZIC1ENSG00000152977ENST00000282928p.R315Gc.943C>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.A949Sc.2845G>TSubstitution - Missense
INPP4AENSG00000040933ENST00000074304p.S118Yc.353C>ASubstitution - Missense
ZNF720ENSG00000197302ENST00000399681p.G342Gc.1026C>TSubstitution - coding silent
ZNF213ENSG00000085644ENST00000574902p.C347Cc.1041C>TSubstitution - coding silent
MN1ENSG00000169184ENST00000302326p.R441Rc.1323G>ASubstitution - coding silent
HUNKENSG00000142149ENST00000270112p.C512Gc.1534T>GSubstitution - Missense
CDKL2ENSG00000138769ENST00000429927p.P476Tc.1426C>ASubstitution - Missense
IGFN1ENSG00000163395ENST00000335211p.?c.1966+9G>TUnknown
CNTNAP4ENSG00000152910ENST00000478060p.?c.2317+8T>CUnknown
TNRENSG00000116147ENST00000367674p.L906Qc.2717T>ASubstitution - Missense
DRD2ENSG00000149295ENST00000362072p.K439Kc.1317G>ASubstitution - coding silent
TRIM9ENSG00000100505ENST00000338969p.L526Lc.1578C>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.L3214Hc.9641T>ASubstitution - Missense
GABRB3ENSG00000166206ENST00000541819p.F25Lc.75C>ASubstitution - Missense
CAPN9ENSG00000135773ENST00000271971p.F473Lc.1417T>CSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.R4272Cc.12814C>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
PCDHB8ENSG00000120322ENST00000239444p.L110Wc.329T>GSubstitution - Missense
FGAENSG00000171560ENST00000302053p.N686Kc.2058C>ASubstitution - Missense
GALNT15ENSG00000131386ENST00000339732p.P290Qc.869C>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.A949Sc.2845G>TSubstitution - Missense
ENST00000404496p.G659Rc.1975G>CSubstitution - Missense
PPLENSG00000118898ENST00000345988p.R616Hc.1847G>ASubstitution - Missense
ZNF823ENSG00000197933ENST00000341191p.R596Gc.1786C>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.I4535fs*1c.13601delCDeletion - Frameshift
NID2ENSG00000087303ENST00000216286p.A57Ac.171C>ASubstitution - coding silent
CACNA1EENSG00000198216ENST00000367573p.V1855Lc.5563G>TSubstitution - Missense
SETDB1ENSG00000143379ENST00000271640p.?c.2330+2T>CUnknown
RTN3ENSG00000133318ENST00000339997p.L935Lc.2805G>TSubstitution - coding silent
GABRA5ENSG00000186297ENST00000335625p.M146Lc.436A>CSubstitution - Missense
KIAA0430ENSG00000166783ENST00000396368p.R673Mc.2018G>TSubstitution - Missense
ADAMTS12ENSG00000151388ENST00000504830p.V1319Ic.3955G>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.T125Tc.375G>TSubstitution - coding silent
EXOC7ENSG00000182473ENST00000335146p.V207Vc.621G>TSubstitution - coding silent
ADCK4ENSG00000123815ENST00000324464p.R320Wc.958C>TSubstitution - Missense
ADCY8ENSG00000155897ENST00000286355p.I405Ic.1215C>TSubstitution - coding silent
ENST00000397266p.?c.594+2T>CUnknown
FMR1NBENSG00000176988ENST00000370467p.H252Qc.756T>GSubstitution - Missense
COL9A1ENSG00000112280ENST00000357250p.P494Tc.1480C>ASubstitution - Missense
C1QTNF2ENSG00000145861ENST00000393975p.A322Dc.965C>ASubstitution - Missense
WFDC5ENSG00000175121ENST00000372789p.R87Hc.260G>ASubstitution - Missense
FGBENSG00000171564ENST00000302068p.P319Pc.957A>GSubstitution - coding silent
DHX16ENSG00000204560ENST00000376442p.P377Lc.1130C>TSubstitution - Missense
SAMD4BENSG00000179134ENST00000314471p.S642Wc.1925C>GSubstitution - Missense
ARHGEF28ENSG00000214944ENST00000545377p.P1365fs*15c.4089delTDeletion - Frameshift
MPP2ENSG00000108852ENST00000269095p.I164Ic.492C>TSubstitution - coding silent
UPF1ENSG00000005007ENST00000262803p.T496Kc.1487C>ASubstitution - Missense
FREM1ENSG00000164946ENST00000380894p.A520Sc.1558G>TSubstitution - Missense
SULT2A1ENSG00000105398ENST00000222002p.E35Kc.103G>ASubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.L2233Lc.6699G>ASubstitution - coding silent
FLT4ENSG00000037280ENST00000261937p.?c.2407-10C>GUnknown
PER2ENSG00000132326ENST00000254657p.G812Rc.2434G>ASubstitution - Missense
MAPK7ENSG00000166484ENST00000308406p.H108Hc.324C>TSubstitution - coding silent
SMIM4ENSG00000168273ENST00000477703p.K42Rc.125A>GSubstitution - Missense
PARP4ENSG00000102699ENST00000381989p.P1430Lc.4289C>TSubstitution - Missense
AMY2BENSG00000240038ENST00000361355p.G254Vc.761G>TSubstitution - Missense
ZYG11AENSG00000203995ENST00000371528p.N151Nc.453T>CSubstitution - coding silent
FBN1ENSG00000166147ENST00000316623p.G343Rc.1027G>CSubstitution - Missense
TMTC1ENSG00000133687ENST00000381224p.G246Rc.736G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.R455Lc.1364G>TSubstitution - Missense
DIP2CENSG00000151240ENST00000280886p.R78Qc.233G>ASubstitution - Missense
USP28ENSG00000048028ENST00000003302p.?c.2305-1G>CUnknown
UBR4ENSG00000127481ENST00000375254p.V1350Fc.4048G>TSubstitution - Missense
PIGRENSG00000162896ENST00000356495p.?c.1379-9C>AUnknown
RB1ENSG00000139687ENST00000267163p.L64fs*1c.190delTDeletion - Frameshift
ENST00000360056p.Y62Fc.185A>TSubstitution - Missense
DRD2ENSG00000149295ENST00000355319p.K441Kc.1323G>ASubstitution - coding silent
POU5F1BENSG00000212993ENST00000465342p.P86Pc.258C>TSubstitution - coding silent
DDX4ENSG00000152670ENST00000511853p.N556Nc.1668C>TSubstitution - coding silent
EBF1ENSG00000164330ENST00000313708p.A582Ec.1745C>ASubstitution - Missense
PCDHA2ENSG00000204969ENST00000378132p.V418Mc.1252G>ASubstitution - Missense
ITKENSG00000113263ENST00000422843p.G555Vc.1664G>TSubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.M551Ic.1653G>CSubstitution - Missense
LHX3ENSG00000107187ENST00000371746p.K127Kc.381G>ASubstitution - coding silent
PLXNB1ENSG00000164050ENST00000296440p.Q2123Kc.6367C>ASubstitution - Missense
CREB5ENSG00000146592ENST00000357727p.Q282Hc.846G>CSubstitution - Missense
CREB5ENSG00000146592ENST00000396298p.Q143Hc.429G>CSubstitution - Missense
TUBA3EENSG00000152086ENST00000312988p.F149Fc.447C>TSubstitution - coding silent
ENST00000333246p.R7Qc.20G>ASubstitution - Missense
LPCAT2ENSG00000087253ENST00000262134p.A303Sc.907G>TSubstitution - Missense
INPP4AENSG00000040933ENST00000409540p.S118Yc.353C>ASubstitution - Missense
DSG1ENSG00000134760ENST00000257192p.D888Vc.2663A>TSubstitution - Missense
C8orf34ENSG00000165084ENST00000337103p.S299Pc.895T>CSubstitution - Missense
ENST00000399313p.R137Lc.410G>TSubstitution - Missense
MAP2ENSG00000078018ENST00000360351p.I1025Vc.3073A>GSubstitution - Missense
NFICENSG00000141905ENST00000443272p.A145Sc.433G>TSubstitution - Missense
TCEAL6ENSG00000204071ENST00000372773p.Q130Lc.389A>TSubstitution - Missense
FBLN5ENSG00000140092ENST00000342058p.V60Lc.178G>CSubstitution - Missense
WDR81ENSG00000167716ENST00000437219p.V500Vc.1500G>TSubstitution - coding silent
GRIA3ENSG00000125675ENST00000264357p.G565Ac.1694G>CSubstitution - Missense
CACNA1EENSG00000198216ENST00000367570p.V1855Lc.5563G>TSubstitution - Missense
SLC24A5ENSG00000188467ENST00000341459p.A10Ac.30G>TSubstitution - coding silent
IDI2ENSG00000148377ENST00000277517p.R12Sc.34C>ASubstitution - Missense
IGSF3ENSG00000143061ENST00000369486p.E639Gc.1916A>GSubstitution - Missense
NGFENSG00000134259ENST00000369512p.L8Lc.22C>TSubstitution - coding silent
FAR1ENSG00000197601ENST00000354817p.R337Rc.1011G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.T125Tc.375G>TSubstitution - coding silent
LRIT1ENSG00000148602ENST00000372105p.G578Dc.1733G>ASubstitution - Missense
SLC9B1P1ENSG00000183704ENST00000331172p.A5Dc.14C>ASubstitution - Missense
GRM8ENSG00000179603ENST00000358373p.L885Lc.2655C>ASubstitution - coding silent
TOB1ENSG00000141232ENST00000499247p.D95Nc.283G>ASubstitution - Missense
MYO16ENSG00000041515ENST00000251041p.T178Tc.534C>ASubstitution - coding silent
DIP2CENSG00000151240ENST00000423550p.R134Qc.401G>ASubstitution - Missense
ISLRENSG00000129009ENST00000395118p.P220Qc.659C>ASubstitution - Missense
MYCBP2ENSG00000005810ENST00000357337p.T2859Mc.8576C>TSubstitution - Missense
ENST00000368047p.Y62Fc.185A>TSubstitution - Missense
SLFN12ENSG00000172123ENST00000394562p.N231Dc.691A>GSubstitution - Missense
PCDHGA2ENSG00000081853ENST00000394576p.G363Ec.1088G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.G8732Vc.26195G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.A2913Pc.8737G>CSubstitution - Missense
SLC25A36ENSG00000114120ENST00000324194p.?c.42-3_48>AGATGGGGGUnknown
SPHK2ENSG00000063176ENST00000443164p.R195Rc.585C>TSubstitution - coding silent
LGSNENSG00000146166ENST00000485906p.?c.163+1G>TUnknown
RTEL1ENSG00000258366ENST00000508582p.S298Lc.893C>TSubstitution - Missense
SMTNENSG00000183963ENST00000333137p.G636Rc.1906G>CSubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.F153fs*3c.458delTDeletion - Frameshift
NFE2L2ENSG00000116044ENST00000397062p.?c.403-10T>CUnknown
LRRC45ENSG00000169683ENST00000306688p.K302Kc.906G>ASubstitution - coding silent
FHOD3ENSG00000134775ENST00000257209p.P797Pc.2391G>ASubstitution - coding silent
SYT4ENSG00000132872ENST00000255224p.V171Vc.513G>TSubstitution - coding silent
C8orf34ENSG00000165084ENST00000518698p.S324Pc.970T>CSubstitution - Missense
WDR81ENSG00000167716ENST00000409644p.V1703Vc.5109G>TSubstitution - coding silent
SLC9A8ENSG00000197818ENST00000417961p.F285Fc.855T>CSubstitution - coding silent
MLYCDENSG00000103150ENST00000262430p.R392Qc.1175G>ASubstitution - Missense
ELK4ENSG00000158711ENST00000289703p.F366Lc.1098T>ASubstitution - Missense
PTBP2ENSG00000117569ENST00000426398p.V303Ic.907G>ASubstitution - Missense
DENND2CENSG00000175984ENST00000393276p.S587Nc.1760G>ASubstitution - Missense
RBM15ENSG00000162775ENST00000369784p.Y533*c.1599C>GSubstitution - Nonsense
GLIPR1L1ENSG00000173401ENST00000312442p.?c.522-3C>AUnknown
PTGS2ENSG00000073756ENST00000367468p.V487Vc.1461G>TSubstitution - coding silent
MYH6ENSG00000197616ENST00000356287p.L1648Lc.4944C>ASubstitution - coding silent
PAPSS2ENSG00000198682ENST00000361175p.H24Nc.70C>ASubstitution - Missense
NEO1ENSG00000067141ENST00000261908p.R672Rc.2016C>TSubstitution - coding silent
RNF213ENSG00000173821ENST00000336301p.P785Lc.2354C>TSubstitution - Missense
LILRA1ENSG00000104974ENST00000251372p.P326Pc.978C>TSubstitution - coding silent
SP1ENSG00000185591ENST00000327443p.S126Gc.376A>GSubstitution - Missense
SH2D7ENSG00000183476ENST00000328828p.P102Pc.306C>ASubstitution - coding silent
ENST00000334042p.V187Ic.559G>ASubstitution - Missense
ADAMTS2ENSG00000087116ENST00000274609p.L292fs*9c.872_873insTInsertion - Frameshift
DENND1AENSG00000119522ENST00000373618p.N255Nc.765C>TSubstitution - coding silent
SRRM1ENSG00000133226ENST00000447431p.E444*c.1330G>TSubstitution - Nonsense
DHX16ENSG00000204560ENST00000376442p.P377Lc.1130C>TSubstitution - Missense
CD22ENSG00000012124ENST00000085219p.P671Tc.2011C>ASubstitution - Missense
BAG2ENSG00000112208ENST00000370693p.I158Lc.472A>CSubstitution - Missense
FAM134AENSG00000144567ENST00000430297p.K297Kc.891G>ASubstitution - coding silent
ENSG00000148123ENST00000374874p.G47Vc.140G>TSubstitution - Missense
ADAMTS2ENSG00000087116ENST00000251582p.L292fs*9c.872_873insTInsertion - Frameshift
CDH10ENSG00000040731ENST00000264463p.Q245Hc.735G>CSubstitution - Missense
SFRP1ENSG00000104332ENST00000220772p.L264Pc.791T>CSubstitution - Missense
FAM83HENSG00000180921ENST00000388913p.P469Pc.1407G>TSubstitution - coding silent
ABI3BPENSG00000154175ENST00000471714p.R951Rc.2853T>ASubstitution - coding silent
ZNF729ENSG00000196350ENST00000357491p.S725Sc.2175A>GSubstitution - coding silent
ADAMTS17ENSG00000140470ENST00000268070p.T519Sc.1555A>TSubstitution - Missense
NOL9ENSG00000162408ENST00000377705p.S378delSc.1133_1135delCTTDeletion - In frame
CACNA1CENSG00000151067ENST00000399634p.R425Lc.1274G>TSubstitution - Missense
DLG2ENSG00000150672ENST00000376104p.L644Ic.1930C>ASubstitution - Missense
OR2AJ1ENSG00000177275ENST00000318244p.V204Vc.612G>TSubstitution - coding silent
SYCP1ENSG00000198765ENST00000369518p.D828Dc.2484T>CSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.Q697Qc.2091A>GSubstitution - coding silent
ZMYM6ENSG00000163867ENST00000357182p.T439Ic.1316C>TSubstitution - Missense
AP2A2ENSG00000183020ENST00000448903p.?c.815-9G>TUnknown
ATP8A2ENSG00000132932ENST00000381655p.Q1105Kc.3313C>ASubstitution - Missense
SORL1ENSG00000137642ENST00000260197p.A426Tc.1276G>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.R1091Rc.3273G>ASubstitution - coding silent
PTENENSG00000171862ENST00000371953p.T167Ac.499A>GSubstitution - Missense
SLC45A4ENSG00000022567ENST00000024061p.P6Pc.18A>CSubstitution - coding silent
CCNG1ENSG00000113328ENST00000393929p.I2Mc.6A>GSubstitution - Missense
RGS12ENSG00000159788ENST00000338806p.N135Sc.404A>GSubstitution - Missense
NNTENSG00000112992ENST00000264663p.G955Vc.2864G>TSubstitution - Missense
DDX4ENSG00000152670ENST00000505374p.N705Nc.2115C>TSubstitution - coding silent
ARHGEF2ENSG00000116584ENST00000361247p.R400Cc.1198C>TSubstitution - Missense
ZNF479ENSG00000185177ENST00000331162p.K323Rc.968A>GSubstitution - Missense
USP34ENSG00000115464ENST00000398571p.S782Ic.2345G>TSubstitution - Missense
HACE1ENSG00000085382ENST00000262903p.N450Kc.1350C>GSubstitution - Missense
VAV2ENSG00000160293ENST00000371850p.T530Mc.1589C>TSubstitution - Missense
HDXENSG00000165259ENST00000297977p.R334Lc.1001G>TSubstitution - Missense
VAV1ENSG00000141968ENST00000304076p.C434Yc.1301G>ASubstitution - Missense
ENST00000344237p.R90fs*3c.264delCDeletion - Frameshift
KTI12ENSG00000198841ENST00000371614p.P113Pc.339G>CSubstitution - coding silent
PRAM1ENSG00000133246ENST00000423345p.P439Pc.1317C>GSubstitution - coding silent
H3F3CENSG00000188375ENST00000340398p.D123Dc.369C>TSubstitution - coding silent
GRIA4ENSG00000152578ENST00000282499p.Y462Nc.1384T>ASubstitution - Missense
GJA8ENSG00000121634ENST00000369235p.C183Cc.549C>TSubstitution - coding silent
CAPN9ENSG00000135773ENST00000354537p.F447Lc.1339T>CSubstitution - Missense
CD84ENSG00000066294ENST00000311224p.Y62Fc.185A>TSubstitution - Missense
PICK1ENSG00000100151ENST00000404072p.S77Ac.229T>GSubstitution - Missense
NACAENSG00000196531ENST00000454682p.S30Sc.90A>TSubstitution - coding silent
KIF1AENSG00000130294ENST00000498729p.R486Kc.1457G>ASubstitution - Missense
TMEM139ENSG00000178826ENST00000359333p.G62Gc.186G>TSubstitution - coding silent
PCDHB10ENSG00000120324ENST00000239446p.G622Gc.1866G>CSubstitution - coding silent
RGS12ENSG00000159788ENST00000538395p.N125Sc.374A>GSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.A949Sc.2845G>TSubstitution - Missense
GRIA3ENSG00000125675ENST00000541091p.G549Ac.1646G>CSubstitution - Missense
MSRAENSG00000175806ENST00000317173p.N215Ic.644A>TSubstitution - Missense
AASDHENSG00000157426ENST00000205214p.G526Sc.1576G>ASubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.V1415Vc.4245C>ASubstitution - coding silent
ADAMTSL1ENSG00000178031ENST00000380548p.R640Wc.1918C>TSubstitution - Missense
FLYWCH2ENSG00000162076ENST00000396958p.L80Lc.240C>TSubstitution - coding silent
PLCH1ENSG00000114805ENST00000334686p.K1246Ec.3736A>GSubstitution - Missense
ANKRD62ENSG00000181626ENST00000314074p.T717Kc.2150C>ASubstitution - Missense
ITIH1ENSG00000055957ENST00000273283p.P704Hc.2111C>ASubstitution - Missense
DOCK8ENSG00000107099ENST00000432829p.?c.5865-1G>TUnknown
PHF2ENSG00000197724ENST00000359246p.A762Tc.2284G>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000367570p.V1230Vc.3690C>TSubstitution - coding silent
UNC79ENSG00000133958ENST00000553484p.Y946Yc.2838C>TSubstitution - coding silent
FLG2ENSG00000143520ENST00000388718p.S2090Sc.6270C>ASubstitution - coding silent
OGDHLENSG00000197444ENST00000374103p.V304Mc.910G>ASubstitution - Missense
DDR2ENSG00000162733ENST00000367922p.I526Vc.1576A>GSubstitution - Missense
CLMPENSG00000166250ENST00000448775p.T54Tc.162C>TSubstitution - coding silent
RHBGENSG00000132677ENST00000368246p.D424fs*18c.1268_1269insCInsertion - Frameshift
TP53ENSG00000141510ENST00000413465p.T125Tc.375G>TSubstitution - coding silent
ANKRD2ENSG00000165887ENST00000307518p.R182Rc.544C>ASubstitution - coding silent
ABCB8ENSG00000197150ENST00000542328p.V411Lc.1231G>TSubstitution - Missense
TRPA1ENSG00000104321ENST00000262209p.C59Fc.176G>TSubstitution - Missense
AASDHENSG00000157426ENST00000502617p.G526Sc.1576G>ASubstitution - Missense
DENND1AENSG00000119522ENST00000373620p.N287Nc.861C>TSubstitution - coding silent
ENST00000301171p.G70Gc.210G>ASubstitution - coding silent
CACNG3ENSG00000006116ENST00000005284p.R310Mc.929G>TSubstitution - Missense
VAV2ENSG00000160293ENST00000406606p.T520Mc.1559C>TSubstitution - Missense
CCNT2ENSG00000082258ENST00000264157p.R10Cc.28C>TSubstitution - Missense
SLC33A1ENSG00000169359ENST00000392845p.W264Cc.792G>TSubstitution - Missense
PRDM9ENSG00000164256ENST00000296682p.R466Tc.1397G>CSubstitution - Missense
PDLIM5ENSG00000163110ENST00000380180p.R220Lc.659G>TSubstitution - Missense
MARCH10ENSG00000173838ENST00000311269p.I87Mc.261A>GSubstitution - Missense
ITIH1ENSG00000055957ENST00000273283p.P704Pc.2112C>TSubstitution - coding silent
TMEM132BENSG00000139364ENST00000299308p.S863Nc.2588G>ASubstitution - Missense
RABGGTBENSG00000137955ENST00000319942p.R260Kc.779G>ASubstitution - Missense
OR5B21ENSG00000198283ENST00000360374p.S193Ic.578G>TSubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.I1349Vc.4045A>GSubstitution - Missense
TACC2ENSG00000138162ENST00000369005p.P171Pc.513C>TSubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.I26Ic.78C>TSubstitution - coding silent


COSMIC

0 mutations reported
0 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