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NCI-H596 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

765 mutations reported
256 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
PCDHB13ENSG00000187372ENST00000341948p.A28Ac.84G>TSubstitution - coding silent
AFF2ENSG00000155966ENST00000370460p.Q785Kc.2353C>ASubstitution - Missense
STK32BENSG00000152953ENST00000282908p.E94Qc.280G>CSubstitution - Missense
ACAD10ENSG00000111271ENST00000455480p.R4Wc.10A>TSubstitution - Missense
ENST00000454161p.S340Rc.1020C>ASubstitution - Missense
PWWP2BENSG00000171813ENST00000368609p.A308Ac.924G>ASubstitution - coding silent
ZNF880ENSG00000221923ENST00000344085p.S57Cc.170C>GSubstitution - Missense
SLC4A5ENSG00000188687ENST00000377634p.L308Lc.924C>TSubstitution - coding silent
SDK1ENSG00000146555ENST00000404826p.T1933Mc.5798C>TSubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.L1015Lc.3043C>TSubstitution - coding silent
ENST00000224764p.R152Pc.455G>CSubstitution - Missense
CLEC7AENSG00000172243ENST00000353231p.P76Hc.227C>ASubstitution - Missense
ZNF710ENSG00000140548ENST00000268154p.M470Ic.1410G>ASubstitution - Missense
PCSK9ENSG00000169174ENST00000302118p.R491Sc.1473G>CSubstitution - Missense
CRNKL1ENSG00000101343ENST00000377340p.R144Pc.431G>CSubstitution - Missense
INSRENSG00000171105ENST00000302850p.S646Fc.1937C>TSubstitution - Missense
DSG3ENSG00000134757ENST00000257189p.P659Tc.1975C>ASubstitution - Missense
LIMCH1ENSG00000064042ENST00000396595p.M1Tc.2T>CSubstitution - Missense
ENST00000316893p.D748Hc.2242G>CSubstitution - Missense
NLRP9ENSG00000185792ENST00000332836p.T894Sc.2680A>TSubstitution - Missense
SLC2A9ENSG00000109667ENST00000264784p.M324Ic.972G>TSubstitution - Missense
GOLGB1ENSG00000173230ENST00000340645p.D245Nc.733G>ASubstitution - Missense
NMT1ENSG00000136448ENST00000258960p.L416Lc.1248C>GSubstitution - coding silent
NM_005082.3p.L281Fc.841C>TSubstitution - Missense
FZR1ENSG00000105325ENST00000441788p.E66Ec.198G>ASubstitution - coding silent
HKR1ENSG00000181666ENST00000324411p.K404Kc.1212G>ASubstitution - coding silent
CA4ENSG00000167434ENST00000300900p.E95Kc.283G>ASubstitution - Missense
ENST00000377643p.S824Lc.2471C>TSubstitution - Missense
NM_001702.1p.R699Sc.2097A>TSubstitution - Missense
DAB2IPENSG00000136848ENST00000309989p.P79Lc.236C>TSubstitution - Missense
TNCENSG00000041982ENST00000350763p.?c.6170-6C>TUnknown
C11orf16ENSG00000176029ENST00000326053p.M9Rc.26T>GSubstitution - Missense
LPHN2ENSG00000117114ENST00000402328p.L335Fc.1003C>TSubstitution - Missense
SLC45A1ENSG00000162426ENST00000377479p.S625Lc.1874C>TSubstitution - Missense
OR2T5ENSG00000203661ENST00000366473p.P28Sc.82C>TSubstitution - Missense
RAB3GAP2ENSG00000118873ENST00000358951p.S209Nc.626G>ASubstitution - Missense
ENSG00000150076ENST00000302316p.E406Qc.1216G>CSubstitution - Missense
SCAPERENSG00000140386ENST00000324767p.S335Cc.1004C>GSubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.Q2889Lc.8666A>TSubstitution - Missense
NEUROG3ENSG00000122859ENST00000242462p.E16Kc.46G>ASubstitution - Missense
IGSF3ENSG00000143061ENST00000369486p.Q525Hc.1575G>CSubstitution - Missense
ANKRD34AENSG00000181039ENST00000323397p.R75Qc.224G>ASubstitution - Missense
ST5ENSG00000166444ENST00000534127p.L1111Fc.3331C>TSubstitution - Missense
GON4LENSG00000116580ENST00000361040p.A817Vc.2450C>TSubstitution - Missense
LONRF3ENSG00000175556ENST00000371628p.P571Pc.1713C>TSubstitution - coding silent
ASPHENSG00000198363ENST00000379454p.L419Lc.1257G>TSubstitution - coding silent
ZNF208ENSG00000160321ENST00000397126p.T357Tc.1071T>ASubstitution - coding silent
SCRIBENSG00000180900ENST00000356994p.E690Ec.2070G>ASubstitution - coding silent
LOXHD1ENSG00000167210ENST00000398722p.Y868Yc.2604T>CSubstitution - coding silent
BIRC6ENSG00000115760ENST00000421745p.A1741Pc.5221G>CSubstitution - Missense
ENST00000287624p.S126Cc.377C>GSubstitution - Missense
KIAA1244ENSG00000112379ENST00000251691p.L1477Vc.4429C>GSubstitution - Missense
WDFY1ENSG00000085449ENST00000233055p.E21Dc.63G>CSubstitution - Missense
ECEL1ENSG00000171551ENST00000304546p.A378Vc.1133C>TSubstitution - Missense
RABL6ENSG00000196642ENST00000311502p.?c.1514+7G>TUnknown
SIPA1L3ENSG00000105738ENST00000222345p.D901Vc.2702A>TSubstitution - Missense
TMEM180ENSG00000138111ENST00000369931p.L65Lc.195C>ASubstitution - coding silent
SLC43A3ENSG00000134802ENST00000395123p.P473Pc.1419C>ASubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.A1957Sc.5869G>TSubstitution - Missense
ARHGAP33ENSG00000004777ENST00000378944p.G805Rc.2413G>ASubstitution - Missense
HDAC8ENSG00000147099ENST00000373561p.R164Rc.492A>CSubstitution - coding silent
NIPAL2ENSG00000104361ENST00000341166p.E351*c.1051G>TSubstitution - Nonsense
ATP8A1ENSG00000124406ENST00000381668p.K286Tc.857A>CSubstitution - Missense
RFC1ENSG00000035928ENST00000381897p.S125*c.374C>GSubstitution - Nonsense
UGT2B10ENSG00000109181ENST00000265403p.A284Ac.852C>ASubstitution - coding silent
RPGRIP1LENSG00000103494ENST00000379925p.E393Kc.1177G>ASubstitution - Missense
VWA3BENSG00000168658ENST00000477737p.A381Ac.1143A>CSubstitution - coding silent
GPR55ENSG00000135898ENST00000392039p.K50Nc.150G>CSubstitution - Missense
KDM8ENSG00000155666ENST00000441782p.G41Ec.122G>ASubstitution - Missense
ENST00000217537p.S623Gc.1867A>GSubstitution - Missense
FFAR3ENSG00000185897ENST00000327809p.Q333Rc.998A>GSubstitution - Missense
RNF32ENSG00000105982ENST00000311822p.R176*c.526C>TSubstitution - Nonsense
ZNF404ENSG00000176222ENST00000587539p.N125Dc.373A>GSubstitution - Missense
CDK5RAP2ENSG00000136861ENST00000349780p.S1371fs*17c.4112delCDeletion - Frameshift
DNAH17ENSG00000187775ENST00000389840p.R1814Sc.5442G>CSubstitution - Missense
ZEB1ENSG00000148516ENST00000446923p.?c.7+6T>CUnknown
ENST00000399269p.A82Sc.244G>TSubstitution - Missense
FMNL3ENSG00000161791ENST00000335154p.?c.1221+4G>CUnknown
MUC19ENSG00000205592ENST00000425730p.F39Sc.116T>CSubstitution - Missense
WDFY4ENSG00000128815ENST00000360890p.S331Rc.993C>ASubstitution - Missense
FAM212BENSG00000197852ENST00000357260p.L165Rc.494T>GSubstitution - Missense
ATAD3CENSG00000215915ENST00000378785p.V383Mc.1147G>ASubstitution - Missense
EFCAB4BENSG00000130038ENST00000444507p.R144Kc.431G>ASubstitution - Missense
HTTENSG00000197386ENST00000355072p.?c.2946-5A>TUnknown
LILRA5ENSG00000187116ENST00000301219p.P245Pc.735G>ASubstitution - coding silent
OSBPL2ENSG00000130703ENST00000313733p.Y201Yc.603C>TSubstitution - coding silent
BIRC6ENSG00000115760ENST00000421745p.S1556Fc.4667C>TSubstitution - Missense
NKX6-3ENSG00000165066ENST00000524115p.W40*c.120G>ASubstitution - Nonsense
NSL1ENSG00000117697ENST00000422588p.?c.499+3G>CUnknown
GCKENSG00000106633ENST00000395796p.?c.481-8C>GUnknown
C11orf30ENSG00000158636ENST00000334736p.I494Vc.1480A>GSubstitution - Missense
ALPK3ENSG00000136383ENST00000258888p.Q1881Qc.5643G>ASubstitution - coding silent
KIF21AENSG00000139116ENST00000395670p.F1044_M1047>Lc.3132_3140delCCTGTCAATComplex - deletion inframe
SGPP1ENSG00000126821ENST00000247225p.Y415Yc.1245T>CSubstitution - coding silent
LRRC49ENSG00000137821ENST00000260382p.S92Lc.275C>TSubstitution - Missense
LYARENSG00000145220ENST00000343470p.Q56Qc.168G>ASubstitution - coding silent
ENST00000420871_v68p.E787Ec.2361G>ASubstitution - coding silent
SULT1C2ENSG00000198203ENST00000251481p.D6Ec.18C>GSubstitution - Missense
PTPN23ENSG00000076201ENST00000265562p.V1323Fc.3967G>TSubstitution - Missense
TRPM6ENSG00000119121ENST00000451710p.P1004Pc.3012A>CSubstitution - coding silent
RYR1ENSG00000196218ENST00000359596p.E1904Kc.5710G>ASubstitution - Missense
SLIT3ENSG00000184347ENST00000519560p.N1003Nc.3009C>TSubstitution - coding silent
LPHN2ENSG00000117114ENST00000370721p.L1248Lc.3744C>TSubstitution - coding silent
VPS39ENSG00000166887ENST00000348544p.L775Pc.2324T>CSubstitution - Missense
TPTE2ENSG00000132958ENST00000400230p.G116Ac.347G>CSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.G245Cc.733G>TSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.A1959Sc.5875G>TSubstitution - Missense
LRP5ENSG00000162337ENST00000294304p.S55Fc.164C>TSubstitution - Missense
SRSF4ENSG00000116350ENST00000373795p.S422Cc.1265C>GSubstitution - Missense
STARD9ENSG00000159433ENST00000290607p.L2789delLc.8365_8367delCTADeletion - In frame
INSRENSG00000171105ENST00000302850p.S646Fc.1937C>TSubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.P2340Sc.7018C>TSubstitution - Missense
BRIP1ENSG00000136492ENST00000259008p.P727Lc.2180C>TSubstitution - Missense
ENGASEENSG00000167280ENST00000579016p.A614Ac.1842C>TSubstitution - coding silent
KIAA1239ENSG00000174145ENST00000309447p.F612Lc.1836T>GSubstitution - Missense
FAM179AENSG00000189350ENST00000379558p.R25Wc.73C>TSubstitution - Missense
ZNF28ENSG00000198538ENST00000457749p.I319Lc.955A>TSubstitution - Missense
KCMF1ENSG00000176407ENST00000409785p.H156Yc.466C>TSubstitution - Missense
ENST00000543338p.E306Kc.916G>ASubstitution - Missense
LRRN1ENSG00000175928ENST00000319331p.S81Nc.242G>ASubstitution - Missense
NDST4ENSG00000138653ENST00000264363p.G727Ec.2180G>ASubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.?c.1389+1G>TUnknown
MAST4ENSG00000069020ENST00000403625p.R1516Rc.4548G>ASubstitution - coding silent
ENST00000375724p.E226Qc.676G>CSubstitution - Missense
ENST00000377143p.Q19*c.55C>TSubstitution - Nonsense
SULT1C2ENSG00000198203ENST00000251481p.T261Tc.783T>GSubstitution - coding silent
C17orf77ENSG00000182352ENST00000392620p.P235Pc.705C>TSubstitution - coding silent
DLG3ENSG00000082458ENST00000374360p.H291Qc.873C>ASubstitution - Missense
CTDP1ENSG00000060069ENST00000299543p.V244Vc.732C>GSubstitution - coding silent
SLC6A19ENSG00000174358ENST00000304460p.E557Kc.1669G>ASubstitution - Missense
VPS13AENSG00000197969ENST00000357409p.?c.1358-9G>CUnknown
SRPK3ENSG00000184343ENST00000393786p.D224Nc.670G>ASubstitution - Missense
ENST00000378143p.Q12Ec.34C>GSubstitution - Missense
CEP78ENSG00000148019ENST00000424347p.F404Lc.1212C>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.R8142Cc.24424C>TSubstitution - Missense
RUNX1T1ENSG00000079102ENST00000436581p.G284Gc.852C>ASubstitution - coding silent
PRRC2CENSG00000117523ENST00000392078p.Q2889Lc.8666A>TSubstitution - Missense
NMT2ENSG00000152465ENST00000378165p.Q12Ec.34C>GSubstitution - Missense
SNX1ENSG00000028528ENST00000559844p.G225Gc.675G>TSubstitution - coding silent
LCTLENSG00000188501ENST00000341509p.?c.371-7C>AUnknown
LPHN2ENSG00000117114ENST00000370725p.L1338Lc.4014C>TSubstitution - coding silent
MAP2K3ENSG00000034152ENST00000361818p.P5Pc.15C>GSubstitution - coding silent
SGSM2ENSG00000141258ENST00000268989p.?c.1424-1G>CUnknown
ATP8A1ENSG00000124406ENST00000264449p.K286Tc.857A>CSubstitution - Missense
EPG5ENSG00000152223ENST00000282041p.I2176Vc.6526A>GSubstitution - Missense
TGFBR2ENSG00000163513ENST00000359013p.S100fs*21c.296delCDeletion - Frameshift
FBXL2ENSG00000153558ENST00000484457p.S320Cc.959C>GSubstitution - Missense
FUT6ENSG00000156413ENST00000286955p.D293Dc.879C>TSubstitution - coding silent
GRAMD4ENSG00000075240ENST00000361034p.F497Fc.1491C>TSubstitution - coding silent
KCNK5ENSG00000164626ENST00000359534p.?c.634+3G>CUnknown
FBN2ENSG00000138829ENST00000262464p.V1902Fc.5704G>TSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.H547Hc.1641C>TSubstitution - coding silent
GTF2H4ENSG00000213780ENST00000259895p.R17Kc.50G>ASubstitution - Missense
ZNF229ENSG00000167383ENST00000291187p.Q424*c.1270C>TSubstitution - Nonsense
EXOC1ENSG00000090989ENST00000346134p.E190Qc.568G>CSubstitution - Missense
RFC4ENSG00000163918ENST00000392481p.L74Lc.222C>GSubstitution - coding silent
GTF2H4ENSG00000213780ENST00000453897p.R17Kc.50G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S4304Fc.12911C>TSubstitution - Missense
MAPK8ENSG00000107643ENST00000374176p.D112Gc.335A>GSubstitution - Missense
OSBPL9ENSG00000117859ENST00000361556p.R590*c.1768C>TSubstitution - Nonsense
OSBPL9ENSG00000117859ENST00000371710p.R718*c.2152C>TSubstitution - Nonsense
RUSC2ENSG00000198853ENST00000361226p.K1303Nc.3909G>CSubstitution - Missense
KCNJ12ENSG00000184185ENST00000331718p.L264Lc.792G>TSubstitution - coding silent
PF4ENSG00000163737ENST00000296029p.G79Gc.237A>GSubstitution - coding silent
KIAA1239ENSG00000174145ENST00000309447p.R537Hc.1610G>ASubstitution - Missense
UGT2B10ENSG00000109181ENST00000265403p.A284Dc.851C>ASubstitution - Missense
OR9A4ENSG00000258083ENST00000548136p.L105Ic.313C>ASubstitution - Missense
ZNF28ENSG00000198538ENST00000457749p.K318Nc.954G>TSubstitution - Missense
ATF2ENSG00000115966ENST00000264110p.V258Ic.772G>ASubstitution - Missense
COL25A1ENSG00000188517ENST00000399126p.P352Pc.1056A>GSubstitution - coding silent
FBXL2ENSG00000153558ENST00000538181p.S236Cc.707C>GSubstitution - Missense
PAMENSG00000145730ENST00000304400p.?c.644-4A>CUnknown
PTPN12ENSG00000127947ENST00000248594p.S697Sc.2091G>TSubstitution - coding silent
BTDENSG00000169814ENST00000303498p.S330Rc.988A>CSubstitution - Missense
THSD7BENSG00000144229ENST00000413152p.G1292Wc.3874G>TSubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.?c.1389+1G>TUnknown
NM_000032.1p.A187Dc.560C>ASubstitution - Missense
ENST00000274705p.T573Tc.1719C>TSubstitution - coding silent
DPP4ENSG00000197635ENST00000360534p.?c.1244+10G>TUnknown
ZNF404ENSG00000176222ENST00000324394p.N123Dc.367A>GSubstitution - Missense
HNF4AENSG00000101076ENST00000316673p.R155Qc.464G>ASubstitution - Missense
MGAT4CENSG00000182050ENST00000332156p.D52Nc.154G>ASubstitution - Missense
SUCOENSG00000094975ENST00000367723p.R101Pc.302G>CSubstitution - Missense
IGSF3ENSG00000143061ENST00000369483p.Q545Hc.1635G>CSubstitution - Missense
PRMT8ENSG00000111218ENST00000452611p.Y272Cc.815A>GSubstitution - Missense
THSD4ENSG00000187720ENST00000355327p.F5Fc.15C>TSubstitution - coding silent
ADRA1AENSG00000120907ENST00000358857p.S311Lc.932C>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.N252Kc.756C>ASubstitution - Missense
SUPT6HENSG00000109111ENST00000314616p.D447Nc.1339G>ASubstitution - Missense
MEN1ENSG00000133895ENST00000312049p.G156Sc.466G>ASubstitution - Missense
ANK3ENSG00000151150ENST00000280772p.P2404Ac.7210C>GSubstitution - Missense
OTUB2ENSG00000089723ENST00000203664p.E33Ac.98A>CSubstitution - Missense
PLXNA4ENSG00000221866ENST00000378539p.N252Kc.756C>ASubstitution - Missense
ENST00000300671p.R1823Sc.5469G>CSubstitution - Missense
ADRA2BENSG00000222040ENST00000409345p.S202Rc.606C>GSubstitution - Missense
ADRA2BENSG00000222040ENST00000409345p.S202Rc.606C>GSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.A1741Pc.5221G>CSubstitution - Missense
B3GNT8ENSG00000177191ENST00000321702p.E28Kc.82G>ASubstitution - Missense
TUBBENSG00000196230ENST00000327892p.G223Rc.667G>ASubstitution - Missense
PRPF40AENSG00000196504ENST00000410080p.D879Gc.2636A>GSubstitution - Missense
GPRIN1ENSG00000169258ENST00000303991p.K940Ec.2818A>GSubstitution - Missense
ERCC8ENSG00000049167ENST00000265038p.G3Gc.9G>CSubstitution - coding silent
KCNQ3ENSG00000184156ENST00000388996p.E299Ec.897G>ASubstitution - coding silent
SH3PXD2AENSG00000107957ENST00000427662p.G198Sc.592G>ASubstitution - Missense
IL12RB1ENSG00000096996ENST00000593993p.T398Tc.1194C>ASubstitution - coding silent
ABCC10ENSG00000124574ENST00000372530p.?c.1765+1G>CUnknown
ACAD10ENSG00000111271ENST00000313698p.R4Wc.10A>TSubstitution - Missense
NEU3ENSG00000162139ENST00000294064p.L434Lc.1302G>CSubstitution - coding silent
CCDC82ENSG00000149231ENST00000278520p.G106Sc.316G>ASubstitution - Missense
VPS39ENSG00000166887ENST00000318006p.L764Pc.2291T>CSubstitution - Missense
XM_046751.7p.G1087Gc.3261G>CSubstitution - coding silent
FAT3ENSG00000165323ENST00000409404p.P4463Hc.13388C>ASubstitution - Missense
SPG11ENSG00000104133ENST00000558319p.L154*c.461T>ASubstitution - Nonsense
ENTPD4ENSG00000197217ENST00000358689p.E439Kc.1315G>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.N252Kc.756C>ASubstitution - Missense
MAP2K3ENSG00000034152ENST00000316920p.P38Pc.114C>GSubstitution - coding silent
ANKRD36CENSG00000174501ENST00000456556p.E1536Ec.4608G>ASubstitution - coding silent
MICAL3ENSG00000243156ENST00000429452p.A1032Sc.3094G>TSubstitution - Missense
SNRPBENSG00000125835ENST00000438552p.R94Lc.281G>TSubstitution - Missense
ZNF28ENSG00000198538ENST00000438150p.K265Nc.795G>TSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.L1557Lc.4671C>TSubstitution - coding silent
ZBTB46ENSG00000130584ENST00000245663p.S181Fc.542C>TSubstitution - Missense
BIRC7ENSG00000101197ENST00000217169p.C255Sc.764G>CSubstitution - Missense
C16orf86ENSG00000159761ENST00000403458p.E288Kc.862G>ASubstitution - Missense
MROH2AENSG00000185038ENST00000389758p.A615Ac.1845C>TSubstitution - coding silent
ENST00000338626p.F23Ic.67T>ASubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.C912*c.2736C>ASubstitution - Nonsense
NMT1ENSG00000136448ENST00000258960p.V365Vc.1095C>TSubstitution - coding silent
OR51G2ENSG00000176893ENST00000322013p.I233Ic.699C>TSubstitution - coding silent
DIP2CENSG00000151240ENST00000381496p.?c.940-3C>GUnknown
SRGAP1ENSG00000196935ENST00000357825p.?c.2471+8G>CUnknown
PPP2R2BENSG00000156475ENST00000504198p.P221Lc.662C>TSubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.D748Hc.2242G>CSubstitution - Missense
RB1ENSG00000139687ENST00000267163p.S182fs*3c.541_542insTInsertion - Frameshift
USH2AENSG00000042781ENST00000307340p.T54Nc.161C>ASubstitution - Missense
KCNH1ENSG00000143473ENST00000271751p.A249Tc.745G>ASubstitution - Missense
DIP2CENSG00000151240ENST00000280886p.?c.1261-3C>GUnknown
MUC5BENSG00000117983ENST00000529681p.T3697Ic.11090C>TSubstitution - Missense
ZBTB40ENSG00000184677ENST00000404138p.V505Vc.1515G>ASubstitution - coding silent
CDC42BPBENSG00000198752ENST00000361246p.?c.447+7C>TUnknown
JMJD1CENSG00000171988ENST00000402544p.L807Vc.2419C>GSubstitution - Missense
TPSG1ENSG00000116176ENST00000234798p.C306Yc.917G>ASubstitution - Missense
PKP1ENSG00000081277ENST00000263946p.R202Lc.605G>TSubstitution - Missense
TMEM81ENSG00000174529ENST00000367167p.I43Ic.129C>TSubstitution - coding silent
MYO5AENSG00000197535ENST00000399231p.E121Qc.361G>CSubstitution - Missense
XM_043653.9p.G188Dc.563G>ASubstitution - Missense
FAM208AENSG00000163946ENST00000431842p.I210Vc.628A>GSubstitution - Missense
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
ENST00000265403_v61p.A284Ac.852C>ASubstitution - coding silent
PUF60ENSG00000179950ENST00000526683p.E429Qc.1285G>CSubstitution - Missense
PRKCGENSG00000126583ENST00000263431p.P202Tc.604C>ASubstitution - Missense
HSD17B11ENSG00000198189ENST00000358290p.?c.695+10G>CUnknown
ENST00000403458_v68p.E288Kc.862G>ASubstitution - Missense
ENST00000358511_v70p.S1793Tc.5378G>CSubstitution - Missense
FAM81BENSG00000153347ENST00000283357p.S18fs*15c.51_52insAInsertion - Frameshift
MTBPENSG00000172167ENST00000305949p.L587Lc.1759T>CSubstitution - coding silent
ZCCHC10ENSG00000155329ENST00000324170p.E162*c.484G>TSubstitution - Nonsense
RNF32ENSG00000105982ENST00000432459p.R176*c.526C>TSubstitution - Nonsense
IER5LENSG00000188483ENST00000372491p.T266Mc.797C>TSubstitution - Missense
OSBPL2ENSG00000130703ENST00000439951p.Y109Yc.327C>TSubstitution - coding silent
ERBB2IPENSG00000112851ENST00000380943p.P661Qc.1982C>ASubstitution - Missense
ERBB2IPENSG00000112851ENST00000284037p.P661Qc.1982C>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.G245Cc.733G>TSubstitution - Missense
OR2L3ENSG00000198128ENST00000359959p.G87Vc.260G>TSubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.D1004Yc.3010G>TSubstitution - Missense
SRGAP1ENSG00000196935ENST00000355086p.?c.2540+8G>CUnknown
OBSCNENSG00000154358ENST00000570156p.R6059Qc.18176G>ASubstitution - Missense
MNDAENSG00000163563ENST00000368141p.S287Fc.860C>TSubstitution - Missense
TINF2ENSG00000092330ENST00000267415p.L38Lc.112C>TSubstitution - coding silent
FGD6ENSG00000180263ENST00000343958p.?c.3334-10C>GUnknown
ZNF208ENSG00000160321ENST00000397126p.T357Tc.1071T>ASubstitution - coding silent
SUPT6HENSG00000109111ENST00000314616p.E418Qc.1252G>CSubstitution - Missense
UGDHENSG00000109814ENST00000316423p.V203Fc.607G>TSubstitution - Missense
ZNF880ENSG00000221923ENST00000422689p.S57Cc.170C>GSubstitution - Missense
ZNF600ENSG00000189190ENST00000360272p.I266Lc.796A>TSubstitution - Missense
ZNF71ENSG00000197951ENST00000328070p.F335Fc.1005C>TSubstitution - coding silent
ZNF543ENSG00000178229ENST00000321545p.L354Lc.1062C>TSubstitution - coding silent
ARPC2ENSG00000163466ENST00000295685p.S299Yc.896C>ASubstitution - Missense
MEIS3ENSG00000105419ENST00000561293p.D179Vc.536A>TSubstitution - Missense
MAST4ENSG00000069020ENST00000405643p.R1337Rc.4011G>ASubstitution - coding silent
MAST4ENSG00000069020ENST00000403625p.L1603Lc.4809G>ASubstitution - coding silent
NPTXRENSG00000221890ENST00000333039p.R328Sc.984G>TSubstitution - Missense
RABL6ENSG00000196642ENST00000371663p.?c.1283+7G>TUnknown
PCDHGA6ENSG00000253731ENST00000517434p.A321Sc.961G>TSubstitution - Missense
OR2F1ENSG00000213215ENST00000392899p.C212Yc.635G>ASubstitution - Missense
LRRC1ENSG00000137269ENST00000370888p.Q300Qc.900G>ASubstitution - coding silent
ENST00000371401p.L49Fc.145C>TSubstitution - Missense
ENSG00000150076ENST00000375025p.E470Qc.1408G>CSubstitution - Missense
KIAA1468ENSG00000134444ENST00000256858p.K571Nc.1713G>CSubstitution - Missense
ZMYM6ENSG00000163867ENST00000357182p.S337*c.1010C>GSubstitution - Nonsense
LRRC30ENSG00000206422ENST00000383467p.A261Tc.781G>ASubstitution - Missense
RBM6ENSG00000004534ENST00000266022p.G98Ec.293G>ASubstitution - Missense
TMEM194AENSG00000166881ENST00000379391p.G25Sc.73G>ASubstitution - Missense
TECTBENSG00000119913ENST00000369422p.Q136Hc.408G>CSubstitution - Missense
CCDC181ENSG00000117477ENST00000367805p.A292Tc.874G>ASubstitution - Missense
NM_004284.2p.E241Qc.721G>CSubstitution - Missense
PRMT8ENSG00000111218ENST00000382622p.Y281Cc.842A>GSubstitution - Missense
ENST00000436173p.A1090Gc.3269C>GSubstitution - Missense
SETBP1ENSG00000152217ENST00000282030p.P185Hc.554C>ASubstitution - Missense
AKAP9ENSG00000127914ENST00000356239p.D222Vc.665A>TSubstitution - Missense
JPH1ENSG00000104369ENST00000342232p.T76Tc.228G>ASubstitution - coding silent
NLRP12ENSG00000142405ENST00000345770p.V541Lc.1621G>TSubstitution - Missense
C2orf16ENSG00000221843ENST00000408964p.P1649Pc.4947C>GSubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.R8482Cc.25444C>TSubstitution - Missense
TRAF2ENSG00000127191ENST00000359662p.C324Cc.972C>TSubstitution - coding silent
ZCCHC6ENSG00000083223ENST00000375963p.D896Nc.2686G>ASubstitution - Missense
TOP1ENSG00000198900ENST00000361337p.E208Kc.622G>ASubstitution - Missense
HKR1ENSG00000181666ENST00000392153p.K385Kc.1155G>ASubstitution - coding silent
SLIT3ENSG00000184347ENST00000404867p.N1003Nc.3009C>TSubstitution - coding silent
NUFIP1ENSG00000083635ENST00000379161p.S133Pc.397T>CSubstitution - Missense
PARP6ENSG00000137817ENST00000287196p.K614Nc.1842G>TSubstitution - Missense
LYSTENSG00000143669ENST00000389793p.V1342Lc.4024G>TSubstitution - Missense
GALNT4ENSG00000257594ENST00000529983p.P442Pc.1326A>TSubstitution - coding silent
SU_OBSCN.1p.R5929Qc.17786G>ASubstitution - Missense
NM_175736.3p.?c.1221+4G>CUnknown
KMT2DENSG00000167548ENST00000301067p.M4058Vc.12172A>GSubstitution - Missense
CLEC7AENSG00000172243ENST00000304084p.P122Hc.365C>ASubstitution - Missense
ADD1ENSG00000087274ENST00000398125p.P257_A262delPISPEAc.768_785del18Deletion - In frame
MAST4ENSG00000069020ENST00000403666p.L1414Lc.4242G>ASubstitution - coding silent
MAST4ENSG00000069020ENST00000261569p.L1409Lc.4227G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000448038p.R8482Cc.25444C>TSubstitution - Missense
CACNA2D1ENSG00000153956ENST00000356253p.E750Kc.2248G>ASubstitution - Missense
ZBTB10ENSG00000205189ENST00000379091p.R95Hc.284G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.H656Hc.1968C>TSubstitution - coding silent
RABL6ENSG00000196642ENST00000435930p.?c.662+7G>TUnknown
TRPM6ENSG00000119121ENST00000449912p.P999Pc.2997A>CSubstitution - coding silent
DLG3ENSG00000082458ENST00000194900p.H309Qc.927C>ASubstitution - Missense
ENST00000545858p.G152Cc.454G>TSubstitution - Missense
NSL1ENSG00000117697ENST00000366977p.?c.499+3G>CUnknown
PTPMT1ENSG00000110536ENST00000326674p.L119Fc.355C>TSubstitution - Missense
ENST00000224764p.R152Pc.455G>CSubstitution - Missense
GALNT4ENSG00000257594ENST00000413530p.P270Pc.810A>TSubstitution - coding silent
VWFENSG00000110799ENST00000261405p.S214Fc.641C>TSubstitution - Missense
TM6SF1ENSG00000136404ENST00000322019p.?c.708+6C>TUnknown
TINF2ENSG00000092330ENST00000399423p.L38Lc.112C>TSubstitution - coding silent
JMJD1CENSG00000171988ENST00000399262p.L1026Vc.3076C>GSubstitution - Missense
PNMA1ENSG00000176903ENST00000316836p.E103*c.307G>TSubstitution - Nonsense
PPFIA4ENSG00000143847ENST00000272198p.G457Gc.1371G>CSubstitution - coding silent
OSBPL9ENSG00000117859ENST00000428468p.R700*c.2098C>TSubstitution - Nonsense
ZNF507ENSG00000168813ENST00000355898p.L155Pc.464T>CSubstitution - Missense
ENST00000354485p.Q763Hc.2289G>CSubstitution - Missense
FHOD3ENSG00000134775ENST00000257209p.S201*c.602C>ASubstitution - Nonsense
RIT2ENSG00000152214ENST00000326695p.Y21Yc.63C>TSubstitution - coding silent
NM_003242p.S75fs*21c.221delCDeletion - Frameshift
CPENSG00000047457ENST00000264613p.?c.1037-3C>TUnknown
ALAS2ENSG00000158578ENST00000396198p.A174Dc.521C>ASubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.C912*c.2736C>ASubstitution - Nonsense
PCDHGA5ENSG00000253485ENST00000518069p.E583Dc.1749A>TSubstitution - Missense
SH3BGRL2ENSG00000198478ENST00000369838p.Q20Rc.59A>GSubstitution - Missense
MYO5AENSG00000197535ENST00000358212p.E121Qc.361G>CSubstitution - Missense
PZPENSG00000126838ENST00000261336p.P1340Tc.4018C>ASubstitution - Missense
TMEM180ENSG00000138111ENST00000238936p.L65Lc.195C>ASubstitution - coding silent
FMO2ENSG00000094963ENST00000209929p.?c.484+3G>AUnknown
PARGENSG00000227345ENST00000402038p.?c.1578+5G>TUnknown
CHST6ENSG00000183196ENST00000390664p.L101Lc.301C>TSubstitution - coding silent
KANK1ENSG00000107104ENST00000382293p.Q605Hc.1815G>CSubstitution - Missense
ANKRD36CENSG00000174501ENST00000420871p.E787Ec.2361G>ASubstitution - coding silent
ZNF441ENSG00000197044ENST00000357901p.H246Lc.737A>TSubstitution - Missense
EIF5BENSG00000158417ENST00000289371p.H706Nc.2116C>ASubstitution - Missense
ZNF530ENSG00000183647ENST00000332854p.E324Dc.972G>CSubstitution - Missense
NDST3ENSG00000164100ENST00000296499p.A421Vc.1262C>TSubstitution - Missense
TRADDENSG00000102871ENST00000345057p.E276Kc.826G>ASubstitution - Missense
ZNF100ENSG00000197020ENST00000358296p.C434Fc.1301G>TSubstitution - Missense
SREK1ENSG00000153914ENST00000334121p.?c.1485-9G>AUnknown
SNCAIPENSG00000064692ENST00000379533p.E1010Qc.3028G>CSubstitution - Missense
TACC3ENSG00000013810ENST00000313288p.L554Fc.1662G>CSubstitution - Missense
MAST4ENSG00000069020ENST00000403666p.R1327Rc.3981G>ASubstitution - coding silent
FUT6ENSG00000156413ENST00000592563p.D293Dc.879C>TSubstitution - coding silent
SIN3AENSG00000169375ENST00000394947p.?c.3591+3G>AUnknown
CEP290ENSG00000198707ENST00000552810p.Q1211*c.3631C>TSubstitution - Nonsense
TMEM194AENSG00000166881ENST00000300128p.G25Sc.73G>ASubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.L65Lc.195T>CSubstitution - coding silent
GCN1L1ENSG00000089154ENST00000300648p.T1586Tc.4758G>ASubstitution - coding silent
ENO2ENSG00000111674ENST00000541477p.?c.310+8G>CUnknown
ENST00000436041_v68p.L40Lc.120C>ASubstitution - coding silent
GON4LENSG00000116580ENST00000437809p.A817Vc.2450C>TSubstitution - Missense
TSHRENSG00000165409ENST00000541158p.P16Hc.47C>ASubstitution - Missense
EXD1ENSG00000178997ENST00000314992p.K339Kc.1017A>GSubstitution - coding silent
ACTG1ENSG00000184009ENST00000331925p.E224Qc.670G>CSubstitution - Missense
LOXHD1ENSG00000167210ENST00000536736p.Y1146Yc.3438T>CSubstitution - coding silent
C2orf16ENSG00000221843ENST00000408964p.P1649Pc.4947C>GSubstitution - coding silent
MAGEC1ENSG00000155495ENST00000285879p.E59Gc.176A>GSubstitution - Missense
SRPK3ENSG00000184343ENST00000489426p.D291Nc.871G>ASubstitution - Missense
ETF1ENSG00000120705ENST00000360541p.L140Pc.419T>CSubstitution - Missense
LARP1ENSG00000155506ENST00000336314p.S747Lc.2240C>TSubstitution - Missense
GEMIN5ENSG00000082516ENST00000285873p.V1120Ac.3359T>CSubstitution - Missense
OR2B6ENSG00000124657ENST00000244623p.Y259Hc.775T>CSubstitution - Missense
GTF2H4ENSG00000213780ENST00000259895p.R17Kc.50G>ASubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.E889Qc.2665G>CSubstitution - Missense
THSD7AENSG00000005108ENST00000423059p.G1610Sc.4828G>ASubstitution - Missense
GCKENSG00000106633ENST00000345378p.?c.487-8C>GUnknown
GCKENSG00000106633ENST00000403799p.?c.484-8C>GUnknown
CMTR2ENSG00000180917ENST00000338099p.H360Dc.1078C>GSubstitution - Missense
EMR2ENSG00000127507ENST00000315576p.Q222*c.664C>TSubstitution - Nonsense
SH3GL1ENSG00000141985ENST00000269886p.A186Vc.557C>TSubstitution - Missense
CHD6ENSG00000124177ENST00000373233p.T2562Mc.7685C>TSubstitution - Missense
HNF4AENSG00000101076ENST00000316099p.R177Qc.530G>ASubstitution - Missense
HNF4AENSG00000101076ENST00000443598p.R177Qc.530G>ASubstitution - Missense
PRNDENSG00000171864ENST00000305817p.I29Mc.87C>GSubstitution - Missense
PRNDENSG00000171864ENST00000305817p.F85Fc.255C>TSubstitution - coding silent
ENST00000359961p.D906Gc.2717A>GSubstitution - Missense
PRPF40AENSG00000196504ENST00000354363p.D775Gc.2324A>GSubstitution - Missense
BAZ2BENSG00000123636ENST00000392783p.R1363Rc.4087A>CSubstitution - coding silent
INTS1ENSG00000164880ENST00000389470p.F766Lc.2298C>ASubstitution - Missense
CENPCENSG00000145241ENST00000273853p.D361Dc.1083C>TSubstitution - coding silent
RNF32ENSG00000105982ENST00000343665p.R152*c.454C>TSubstitution - Nonsense
DPP4ENSG00000197635ENST00000360534p.?c.1244+7A>TUnknown
SCN2AENSG00000136531ENST00000375437p.L222Vc.664C>GSubstitution - Missense
KLHL41ENSG00000239474ENST00000284669p.C593Sc.1777T>ASubstitution - Missense
POLE3ENSG00000148229ENST00000374169p.E118Kc.352G>ASubstitution - Missense
DAB2IPENSG00000136848ENST00000259371p.P175Lc.524C>TSubstitution - Missense
RABGAP1ENSG00000011454ENST00000373647p.Q666Hc.1998G>TSubstitution - Missense
NM_012197.2p.Q594Hc.1782G>TSubstitution - Missense
ST6GALNAC6ENSG00000160408ENST00000373146p.R302Sc.904C>ASubstitution - Missense
RAPGEF2ENSG00000109756ENST00000264431p.N689fs*12c.2064_2065insAInsertion - Frameshift
EXOC3ENSG00000180104ENST00000315013p.F547Fc.1641C>TSubstitution - coding silent
NM_018695.1p.P661Qc.1982C>ASubstitution - Missense
TAP1ENSG00000168394ENST00000354258p.D273Nc.817G>ASubstitution - Missense
ABCC10ENSG00000124574ENST00000244533p.?c.1636+1G>CUnknown
TP53ENSG00000141510ENST00000420246p.G245Cc.733G>TSubstitution - Missense
MAST4ENSG00000069020ENST00000261569p.R1322Rc.3966G>ASubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000393061p.V980Vc.2940G>ASubstitution - coding silent
MAPK8ENSG00000107643ENST00000374174p.D112Gc.335A>GSubstitution - Missense
CCAR1ENSG00000060339ENST00000265872p.Q15Kc.43C>ASubstitution - Missense
TTC17ENSG00000052841ENST00000299240p.L646Fc.1938G>CSubstitution - Missense
ENST00000331596p.S29Tc.85T>ASubstitution - Missense
FAM186BENSG00000135436ENST00000544141p.T606Tc.1818C>GSubstitution - coding silent
VWFENSG00000110799ENST00000572068p.S251Fc.752C>TSubstitution - Missense
CHD1LENSG00000131778ENST00000369258p.E241Qc.721G>CSubstitution - Missense
NSL1ENSG00000117697ENST00000366978p.?c.190+3G>CUnknown
USH2AENSG00000042781ENST00000366942p.T54Nc.161C>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.T54Nc.161C>ASubstitution - Missense
NRD1ENSG00000078618ENST00000544028p.K126*c.376A>TSubstitution - Nonsense
AMDHD2ENSG00000162066ENST00000413459p.V94Vc.282G>ASubstitution - coding silent
DHX40ENSG00000108406ENST00000451169p.E642Kc.1924G>ASubstitution - Missense
TRIM25ENSG00000121060ENST00000316881p.L281Fc.841C>TSubstitution - Missense
DNAH17-AS1ENSG00000268470ENST00000598378p.P159Ac.475C>GSubstitution - Missense
ZNF382ENSG00000161298ENST00000439428p.Q426Ec.1276C>GSubstitution - Missense
FZR1ENSG00000105325ENST00000395095p.E66Ec.198G>ASubstitution - coding silent
ZNF530ENSG00000183647ENST00000332854p.G329Gc.987G>CSubstitution - coding silent
NLRP9ENSG00000185792ENST00000590200p.T894Sc.2680A>TSubstitution - Missense
IL18RAPENSG00000115607ENST00000264260p.G369Rc.1105G>ASubstitution - Missense
SLC4A5ENSG00000188687ENST00000394019p.L308Lc.924C>TSubstitution - coding silent
FBXL2ENSG00000153558ENST00000446237p.S61Cc.182C>GSubstitution - Missense
ARHGAP10ENSG00000071205ENST00000336498p.S698Pc.2092T>CSubstitution - Missense
IL12RB1ENSG00000096996ENST00000430026p.T398Tc.1194C>ASubstitution - coding silent
COMPENSG00000105664ENST00000222271p.F609Lc.1827C>GSubstitution - Missense
COMPENSG00000105664ENST00000222271p.L528Lc.1584C>TSubstitution - coding silent
KDM8ENSG00000155666ENST00000286096p.G3Ec.8G>ASubstitution - Missense
AMDHD2ENSG00000162066ENST00000302956p.V94Vc.282G>ASubstitution - coding silent
SLC6A11ENSG00000132164ENST00000254488p.?c.1372-1G>CUnknown
LRP1BENSG00000168702ENST00000389484p.R4120Mc.12359G>TSubstitution - Missense
THSD7BENSG00000144229ENST00000272643p.G1323Wc.3967G>TSubstitution - Missense
THSD7BENSG00000144229ENST00000272643p.E1324Qc.3970G>CSubstitution - Missense
THSD7BENSG00000144229ENST00000413152p.E1293Qc.3877G>CSubstitution - Missense
NM_006596.3p.S1753Lc.5258C>TSubstitution - Missense
C3orf30ENSG00000163424ENST00000295622p.L501Ic.1501C>ASubstitution - Missense
EAF2ENSG00000145088ENST00000273668p.D236Hc.706G>CSubstitution - Missense
RAB33BENSG00000172007ENST00000305626p.P219Ac.655C>GSubstitution - Missense
CYP4V2ENSG00000145476ENST00000378802p.Y224Hc.670T>CSubstitution - Missense
CCDC110ENSG00000168491ENST00000307588p.F823Lc.2469C>GSubstitution - Missense
FRG2ENSG00000205097ENST00000378763p.S149Sc.447C>TSubstitution - coding silent
ADD1ENSG00000087274ENST00000264758p.P257_A262delPISPEAc.768_785del18Deletion - In frame
SLC12A2ENSG00000064651ENST00000262461p.G654Gc.1962C>ASubstitution - coding silent
FBN2ENSG00000138829ENST00000508053p.V1902Fc.5704G>TSubstitution - Missense
CLPTM1LENSG00000049656ENST00000320895p.G66Ac.197G>CSubstitution - Missense
FSTL4ENSG00000053108ENST00000265342p.G274Rc.820G>ASubstitution - Missense
PQLC1ENSG00000122490ENST00000397778p.V53Lc.157G>CSubstitution - Missense
NPTXRENSG00000221890ENST00000333039p.R328Kc.983G>ASubstitution - Missense
BAI3ENSG00000135298ENST00000370598p.?c.1360+5G>AUnknown
FAM184AENSG00000111879ENST00000338891p.N528Sc.1583A>GSubstitution - Missense
ENST00000369584p.R132Rc.396G>ASubstitution - coding silent
ASPAENSG00000108381ENST00000263080p.E214Qc.640G>CSubstitution - Missense
DHX57ENSG00000163214ENST00000295373p.?c.2813+8G>AUnknown
NMT1ENSG00000136448ENST00000258960p.?c.1164+7C>TUnknown
NMT1ENSG00000136448ENST00000258960p.F397Fc.1191C>TSubstitution - coding silent
NMT1ENSG00000136448ENST00000258960p.S421Fc.1262C>TSubstitution - Missense
EFTUD2ENSG00000108883ENST00000426333p.L33Vc.97C>GSubstitution - Missense
ANKFN1ENSG00000153930ENST00000318698p.Q83Kc.247C>ASubstitution - Missense
DHX40ENSG00000108406ENST00000251241p.E690Kc.2068G>ASubstitution - Missense
ZNF382ENSG00000161298ENST00000292928p.Q427Ec.1279C>GSubstitution - Missense
ARHGAP33ENSG00000004777ENST00000314737p.G780Rc.2338G>ASubstitution - Missense
ZNF527ENSG00000189164ENST00000356178p.A399Sc.1195G>TSubstitution - Missense
ZBBXENSG00000169064ENST00000392766p.M337fs*43c.1009delADeletion - Frameshift
ZBBXENSG00000169064ENST00000455345p.M337fs*43c.1009delADeletion - Frameshift
PCDHGA6ENSG00000253731ENST00000517434p.R764Sc.2290C>ASubstitution - Missense
PCDHGA10ENSG00000253846ENST00000398610p.R764Sc.2290C>ASubstitution - Missense
PCDHGA10ENSG00000253846ENST00000398610p.A321Sc.961G>TSubstitution - Missense
PCDHGA5ENSG00000253485ENST00000518069p.E583Dc.1749A>TSubstitution - Missense
PPP2R2BENSG00000156475ENST00000336640p.P218Lc.653C>TSubstitution - Missense
PPP2R2BENSG00000156475ENST00000394413p.P215Lc.644C>TSubstitution - Missense
PPP2R2BENSG00000156475ENST00000508545p.P204Lc.611C>TSubstitution - Missense
PPP2R2BENSG00000156475ENST00000394409p.P273Lc.818C>TSubstitution - Missense
LPCAT1ENSG00000153395ENST00000283415p.F225Fc.675C>TSubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000354484p.V871Vc.2613G>ASubstitution - coding silent
SEC16AENSG00000148396ENST00000313050p.P818Pc.2454G>ASubstitution - coding silent
NM_014866.1p.P818Pc.2454G>ASubstitution - coding silent
TRPM6ENSG00000119121ENST00000360774p.P1004Pc.3012A>CSubstitution - coding silent
TRAF2ENSG00000127191ENST00000536468p.C272Cc.816C>TSubstitution - coding silent
CEP78ENSG00000148019ENST00000376597p.F405Lc.1215C>GSubstitution - Missense
CEP78ENSG00000148019ENST00000277082p.F404Lc.1212C>GSubstitution - Missense
VPS13AENSG00000197969ENST00000360280p.?c.1358-9G>CUnknown
VPS13AENSG00000197969ENST00000376634p.?c.1358-9G>CUnknown
RMI1ENSG00000178966ENST00000325875p.S481Fc.1442C>TSubstitution - Missense
ADCYAP1R1ENSG00000078549ENST00000304166p.M340Vc.1018A>GSubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.L881Fc.2641C>TSubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.L881Fc.2641C>TSubstitution - Missense
AFF2ENSG00000155966ENST00000286437p.Q426Kc.1276C>ASubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.Q785Kc.2353C>ASubstitution - Missense
PPM1KENSG00000163644ENST00000295908p.T223Tc.669C>TSubstitution - coding silent
AFF1ENSG00000172493ENST00000395146p.Q1209*c.3625C>TSubstitution - Nonsense
MED14ENSG00000180182ENST00000324817p.Q823Qc.2469A>GSubstitution - coding silent
ZNF667ENSG00000198046ENST00000292069p.W30Rc.88T>CSubstitution - Missense
ZNF667ENSG00000198046ENST00000342634p.W123Rc.367T>CSubstitution - Missense
ZNF530ENSG00000183647ENST00000332854p.R287Rc.859A>CSubstitution - coding silent
ZNF814ENSG00000204514ENST00000435989p.F339Lc.1017C>GSubstitution - Missense
ABCA5ENSG00000154265ENST00000392676p.Q596Qc.1788G>ASubstitution - coding silent
GPR45ENSG00000135973ENST00000258456p.S79Cc.236C>GSubstitution - Missense
RANBP2ENSG00000153201ENST00000283195p.S1400Rc.4198A>CSubstitution - Missense
SULT1C2ENSG00000198203ENST00000326853p.T272Tc.816T>GSubstitution - coding silent
SULT1C2ENSG00000198203ENST00000326853p.D6Vc.17A>TSubstitution - Missense
SULT1C2ENSG00000198203ENST00000251481p.D6Vc.17A>TSubstitution - Missense
SULT1C2ENSG00000198203ENST00000326853p.D6Ec.18C>GSubstitution - Missense
TRAK1ENSG00000182606ENST00000396175p.E248Kc.742G>ASubstitution - Missense
TRAK1ENSG00000182606ENST00000341421p.E248Kc.742G>ASubstitution - Missense
PAMENSG00000145730ENST00000455264p.?c.644-4A>CUnknown
SLC2A9ENSG00000109667ENST00000309065p.M295Ic.885G>TSubstitution - Missense
ATG12ENSG00000145782ENST00000274459p.Q129Qc.387A>GSubstitution - coding silent
CBFBENSG00000067955ENST00000412916p.P70fs*19c.208delCDeletion - Frameshift
ENST00000290858_v70p.P70fs*19c.208delCDeletion - Frameshift
GYG1ENSG00000163754ENST00000345003p.R33Rc.99G>ASubstitution - coding silent
GYG1ENSG00000163754ENST00000345003p.M47Ic.141G>ASubstitution - Missense
EAF1ENSG00000144597ENST00000396842p.?c.336-7C>GUnknown
KPNA4ENSG00000186432ENST00000334256p.?c.204+7C>TUnknown
EXOSC9ENSG00000123737ENST00000379663p.?c.385-7C>TUnknown
DROSHAENSG00000113360ENST00000511367p.R279Hc.836G>ASubstitution - Missense
NM_020340.2p.L1406Vc.4216C>GSubstitution - Missense
UTRNENSG00000152818ENST00000367545p.E1624*c.4870G>TSubstitution - Nonsense
SYNE1ENSG00000131018ENST00000265368p.R8530Cc.25588C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.R8530Cc.25588C>TSubstitution - Missense
NM_001453.1p.D182Ec.546C>ASubstitution - Missense
JAZF1ENSG00000153814ENST00000283928p.R223fs*>21c.667delCDeletion - Frameshift
CACNA2D1ENSG00000153956ENST00000356860p.E738Kc.2212G>ASubstitution - Missense
C7orf62ENSG00000164645ENST00000297203p.P226Lc.677C>TSubstitution - Missense
MAGEB18ENSG00000176774ENST00000325250p.G26*c.76G>TSubstitution - Nonsense
MYO7BENSG00000169994ENST00000428314p.T1544Tc.4632C>ASubstitution - coding silent
ENST00000272666p.T1787Tc.5361C>ASubstitution - coding silent
IWS1ENSG00000163166ENST00000295321p.A584Ac.1752A>CSubstitution - coding silent
CHPFENSG00000123989ENST00000243776p.E742Qc.2224G>CSubstitution - Missense
SERPINE2ENSG00000135919ENST00000447280p.S6Sc.18G>ASubstitution - coding silent
ACSL3ENSG00000123983ENST00000357430p.A178Sc.532G>TSubstitution - Missense
ACSL3ENSG00000123983ENST00000357430p.A178Sc.532G>TSubstitution - Missense
DGKDENSG00000077044ENST00000264057p.S666Sc.1998C>TSubstitution - coding silent
PAPOLGENSG00000115421ENST00000238714p.?c.493-5C>TUnknown
CCDC85AENSG00000055813ENST00000407595p.G356Gc.1068C>ASubstitution - coding silent
HEG1ENSG00000173706ENST00000311127p.?c.611-10C>GUnknown
COL6A6ENSG00000206384ENST00000358511p.S1793Tc.5378G>CSubstitution - Missense
PNPLA3ENSG00000100344ENST00000216180p.V169Vc.507G>ASubstitution - coding silent
SREK1ENSG00000153914ENST00000380918p.?c.1137-9G>AUnknown
SREK1ENSG00000153914ENST00000334121p.R526Sc.1578G>TSubstitution - Missense
SREK1ENSG00000153914ENST00000380918p.R410Sc.1230G>TSubstitution - Missense
MAST4ENSG00000069020ENST00000405643p.L1424Lc.4272G>ASubstitution - coding silent
C7orf50ENSG00000146540ENST00000357429p.D176Nc.526G>ASubstitution - Missense
SH2B2ENSG00000160999ENST00000536178p.T439Tc.1317G>ASubstitution - coding silent
SH2B2ENSG00000160999ENST00000306803p.T401Tc.1203G>ASubstitution - coding silent
COL26A1ENSG00000160963ENST00000397927p.Q272fs*77c.810delCDeletion - Frameshift
TYW1ENSG00000198874ENST00000359626p.A359Sc.1075G>TSubstitution - Missense
BCL7BENSG00000106635ENST00000223368p.D76Nc.226G>ASubstitution - Missense
IFNA2ENSG00000188379ENST00000380206p.Y108Cc.323A>GSubstitution - Missense
IFNA6ENSG00000120235ENST00000380210p.S97Tc.289T>ASubstitution - Missense
ALAS2ENSG00000158578ENST00000330807p.A187Dc.560C>ASubstitution - Missense
HDAC8ENSG00000147099ENST00000373573p.R164Rc.492A>CSubstitution - coding silent
REXO1ENSG00000079313ENST00000170168p.A97Ac.291C>ASubstitution - coding silent
ENST00000428290_v65p.T357Tc.1071T>ASubstitution - coding silent
ZNF254ENSG00000213096ENST00000357002p.E297Dc.891A>CSubstitution - Missense
SLC7A9ENSG00000021488ENST00000023064p.I191Vc.571A>GSubstitution - Missense
TSKSENSG00000126467ENST00000246801p.L150Lc.448T>CSubstitution - coding silent
SHANK1ENSG00000161681ENST00000293441p.E135Dc.405G>CSubstitution - Missense
SNTA1ENSG00000101400ENST00000217381p.F366Sc.1097T>CSubstitution - Missense
RBL1ENSG00000080839ENST00000373664p.D1016Hc.3046G>CSubstitution - Missense
ZNF831ENSG00000124203ENST00000371030p.I1341Ic.4023A>TSubstitution - coding silent
APCDD1LENSG00000198768ENST00000371149p.F414Fc.1242C>TSubstitution - coding silent
PTPRZ1ENSG00000106278ENST00000393386p.?c.5284+1G>TUnknown
PTPRZ1ENSG00000106278ENST00000393386p.?c.5284+1G>TUnknown
FEZF1ENSG00000128610ENST00000442488p.R96Rc.288G>CSubstitution - coding silent
PLXNA4ENSG00000221866ENST00000423507p.N252Kc.756C>ASubstitution - Missense
KIAA1045ENSG00000122733ENST00000242315p.R36Cc.106C>TSubstitution - Missense
UHRF2ENSG00000147854ENST00000276893p.F36Lc.108C>ASubstitution - Missense
KANK1ENSG00000107104ENST00000382303p.Q763Hc.2289G>CSubstitution - Missense
FAM208AENSG00000163946ENST00000355628p.I606Vc.1816A>GSubstitution - Missense
CNGB3ENSG00000170289ENST00000320005p.E336Qc.1006G>CSubstitution - Missense
MED13ENSG00000108510ENST00000397786p.G1849Ac.5546G>CSubstitution - Missense
BRIP1ENSG00000136492ENST00000259008p.P727Lc.2180C>TSubstitution - Missense
ERN1ENSG00000178607ENST00000433197p.L316Lc.948G>ASubstitution - coding silent
ERN1ENSG00000178607ENST00000433197p.L316Lc.948G>ASubstitution - coding silent
GH1ENSG00000259384ENST00000323322p.V211Ac.632T>CSubstitution - Missense
MOCOSENSG00000075643ENST00000261326p.S849Lc.2546C>TSubstitution - Missense
SETBP1ENSG00000152217ENST00000282030p.K1413Nc.4239G>TSubstitution - Missense
ZNF441ENSG00000197044ENST00000357901p.H179Lc.536A>TSubstitution - Missense
MAN2B1ENSG00000104774ENST00000221363p.?c.1827+1G>CUnknown
ENST00000265403_v61p.A284Dc.851C>ASubstitution - Missense
TMPRSS11AENSG00000187054ENST00000334830p.N186Hc.556A>CSubstitution - Missense
SALL1ENSG00000103449ENST00000251020p.A652Ac.1956G>TSubstitution - coding silent
NKD1ENSG00000140807ENST00000268459p.A377Vc.1130C>TSubstitution - Missense
ADCY7ENSG00000121281ENST00000394697p.?c.1369-4G>CUnknown
MRPL45ENSG00000174100ENST00000312513p.P4Pc.12C>TSubstitution - coding silent
SYNJ1ENSG00000159082ENST00000433931p.?c.2579-8G>CUnknown
NM_003895.2p.?c.2462-8G>CUnknown
RGS12ENSG00000159788ENST00000344733p.V99Ic.295G>ASubstitution - Missense
QRICH1ENSG00000198218ENST00000395443p.P461Pc.1383A>TSubstitution - coding silent
GMDSENSG00000112699ENST00000380815p.V317Lc.949G>CSubstitution - Missense
SOX4ENSG00000124766ENST00000244745p.S396Sc.1188C>TSubstitution - coding silent
NUP205ENSG00000155561ENST00000285968p.?c.5060-3T>CUnknown
NM_147171.1p.D234Vc.701A>TSubstitution - Missense
ZNF655ENSG00000197343ENST00000424881p.E382Qc.1144G>CSubstitution - Missense
ZNF655ENSG00000197343ENST00000394163p.E347Qc.1039G>CSubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.E690Ec.2070G>ASubstitution - coding silent
TPD52ENSG00000076554ENST00000518937p.?c.387-3C>TUnknown
ZBTB10ENSG00000205189ENST00000455036p.R387Hc.1160G>ASubstitution - Missense
MYO5BENSG00000167306ENST00000285039p.?c.1905+3C>GUnknown
KIAA1468ENSG00000134444ENST00000398130p.K571Nc.1713G>CSubstitution - Missense
AGXTENSG00000172482ENST00000307503p.D201Nc.601G>ASubstitution - Missense
MYH4ENSG00000264424ENST00000255381p.G120Vc.359G>TSubstitution - Missense
ZNF28ENSG00000198538ENST00000438150p.I266Lc.796A>TSubstitution - Missense
ZNF600ENSG00000189190ENST00000360272p.K265Nc.795G>TSubstitution - Missense
NLRP12ENSG00000142405ENST00000324134p.V541Lc.1621G>TSubstitution - Missense
PRKCGENSG00000126583ENST00000540413p.P202Tc.604C>ASubstitution - Missense
ZBTB46ENSG00000130584ENST00000245663p.L59Lc.177C>GSubstitution - coding silent
ENST00000442499p.?c.174-6C>AUnknown
BIRC6ENSG00000115760ENST00000421745p.S1556Fc.4667C>TSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.L1557Lc.4671C>TSubstitution - coding silent
ADH1AENSG00000187758ENST00000209668p.?c.347+1G>CUnknown
CAMK1ENSG00000134072ENST00000256460p.I84Mc.252C>GSubstitution - Missense
WDR1ENSG00000071127ENST00000499869p.V120Vc.360C>TSubstitution - coding silent
ENST00000400001p.V120Vc.360C>TSubstitution - coding silent
COL25A1ENSG00000188517ENST00000399132p.P352Pc.1056A>GSubstitution - coding silent
COQ2ENSG00000173085ENST00000311469p.L224Ic.670C>ASubstitution - Missense
TMEM123ENSG00000152558ENST00000398136p.R193Gc.577A>GSubstitution - Missense
ENST00000327878p.D123Dc.369T>CSubstitution - coding silent
FAM212BENSG00000197852ENST00000444059p.L150Rc.449T>GSubstitution - Missense
C10orf67ENSG00000179133ENST00000323327p.D85Hc.253G>CSubstitution - Missense
C10orf67ENSG00000179133ENST00000376500p.D35Hc.103G>CSubstitution - Missense
PAPLNENSG00000100767ENST00000340738p.Y205Hc.613T>CSubstitution - Missense
PAPLNENSG00000100767ENST00000427855p.Y232Hc.694T>CSubstitution - Missense
BLMENSG00000197299ENST00000355112p.S181Sc.543C>TSubstitution - coding silent
ALKBH1ENSG00000100601ENST00000216489p.D195Hc.583G>CSubstitution - Missense
ENST00000426033p.S331Rc.993C>ASubstitution - Missense
MAPK8ENSG00000107643ENST00000374182p.D112Gc.335A>GSubstitution - Missense
PARGENSG00000227345ENST00000402038p.?c.1578+6A>TUnknown
POLA2ENSG00000014138ENST00000541089p.Q353Qc.1059G>ASubstitution - coding silent
DDX54ENSG00000123064ENST00000306014p.V363Vc.1089G>ASubstitution - coding silent
KIF2CENSG00000142945ENST00000372224p.S458Tc.1372T>ASubstitution - Missense
VPS33AENSG00000139719ENST00000267199p.G332Gc.996G>TSubstitution - coding silent
HSD3B2ENSG00000203859ENST00000369416p.A235Ac.705C>TSubstitution - coding silent
LCMT2ENSG00000168806ENST00000305641p.E197Ec.591G>ASubstitution - coding silent
LCMT2ENSG00000168806ENST00000305641p.G31Vc.92G>TSubstitution - Missense
STARD9ENSG00000159433ENST00000290607p.L765delLc.2293_2295delCTADeletion - In frame
SPG11ENSG00000104133ENST00000261866p.L154*c.461T>ASubstitution - Nonsense
AJAP1ENSG00000196581ENST00000378190p.V367Mc.1099G>ASubstitution - Missense
CPT2ENSG00000157184ENST00000371486p.T80Ac.238A>GSubstitution - Missense
NRD1ENSG00000078618ENST00000354831p.K326*c.976A>TSubstitution - Nonsense
OSBPL9ENSG00000117859ENST00000447887p.R710*c.2128C>TSubstitution - Nonsense
OSBPL9ENSG00000117859ENST00000447887p.R710*c.2128C>TSubstitution - Nonsense
OVCH1ENSG00000187950ENST00000318184p.?c.183+4A>CUnknown
EFCAB4BENSG00000130038ENST00000440314p.R144Kc.431G>ASubstitution - Missense
EFCAB4BENSG00000130038ENST00000252322p.R144Kc.431G>ASubstitution - Missense
LCE2DENSG00000187223ENST00000368784p.G68Ac.203G>CSubstitution - Missense
IL6RENSG00000160712ENST00000368485p.?c.950-4G>AUnknown
GON4LENSG00000116580ENST00000437809p.A817Vc.2450C>TSubstitution - Missense
PKP1ENSG00000081277ENST00000367324p.R202Lc.605G>TSubstitution - Missense
TIMM17AENSG00000134375ENST00000367287p.E7Qc.19G>CSubstitution - Missense
NAV1ENSG00000134369ENST00000367296p.G690Ac.2069G>CSubstitution - Missense
KNTC1ENSG00000184445ENST00000333479p.T392Mc.1175C>TSubstitution - Missense
ENST00000298047_v61p.P4495Hc.13484C>ASubstitution - Missense
FAT3ENSG00000165323ENST00000298047p.P1070Hc.3209C>ASubstitution - Missense
SBNO1ENSG00000139697ENST00000267176p.I1047Tc.3140T>CSubstitution - Missense
UBCENSG00000150991ENST00000339647p.I264Ic.792T>CSubstitution - coding silent
ZNF664ENSG00000179195ENST00000337815p.P114Pc.342G>TSubstitution - coding silent
ENSG00000239810ENST00000436041p.L40Lc.120C>ASubstitution - coding silent
LPHN2ENSG00000117114ENST00000359929p.L1267Lc.3801C>TSubstitution - coding silent
SLC45A1ENSG00000162426ENST00000289877p.S591Lc.1772C>TSubstitution - Missense
FERMT2ENSG00000073712ENST00000395631p.V447Fc.1339G>TSubstitution - Missense
TSHRENSG00000165409ENST00000554435p.P16Hc.47C>ASubstitution - Missense
DYNC1H1ENSG00000197102ENST00000360184p.D4617Nc.13849G>ASubstitution - Missense
HSP90AA1ENSG00000080824ENST00000334701p.F159Fc.477C>TSubstitution - coding silent
AQRENSG00000021776ENST00000156471p.L178Lc.532T>CSubstitution - coding silent
KNSTRNENSG00000128944ENST00000416151p.H284Nc.850C>ASubstitution - Missense
LTKENSG00000062524ENST00000263800p.R682Wc.2044C>TSubstitution - Missense
LTKENSG00000062524ENST00000355166p.R621Wc.1861C>TSubstitution - Missense
INO80ENSG00000128908ENST00000361937p.D1148Hc.3442G>CSubstitution - Missense
INO80ENSG00000128908ENST00000361937p.D1148Hc.3442G>CSubstitution - Missense
C5orf42ENSG00000197603ENST00000425232p.N529Kc.1587C>GSubstitution - Missense
CARD6ENSG00000132357ENST00000254691p.L30Ic.88T>ASubstitution - Missense
ATP2C2ENSG00000064270ENST00000262429p.S750Sc.2250C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.P710Hc.2129C>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.P710Hc.2129C>ASubstitution - Missense
IKZF2ENSG00000030419ENST00000457361p.?c.35-8G>CUnknown
ENST00000365713p.P530Pc.1590C>TSubstitution - coding silent
LONRF3ENSG00000175556ENST00000422289p.P315Pc.945C>TSubstitution - coding silent
C9orf129ENSG00000204352ENST00000375419p.Q90Hc.270G>CSubstitution - Missense
HABP4ENSG00000130956ENST00000375249p.?c.513-5C>TUnknown
NM_006218.1p.E545Kc.1633G>ASubstitution - Missense
RB1ENSG00000139687ENST00000267163p.S182fs*3c.541_542insTInsertion - Frameshift
TP53ENSG00000141510ENST00000269305p.G245Cc.733G>TSubstitution - Missense
METENSG00000105976ENST00000318493p.?c.3082+1G>TUnknown
PIK3CAENSG00000121879ENST00000263967p.E545Kc.1633G>ASubstitution - Missense
KCNH7ENSG00000184611ENST00000332142p.R993Qc.2978G>ASubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.D1004Yc.3010G>TSubstitution - Missense
SLC30A9ENSG00000014824ENST00000264451p.R306Cc.916C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.G245Cc.733G>TSubstitution - Missense
TTC17ENSG00000052841ENST00000039989p.L646Fc.1938G>CSubstitution - Missense
RUNX1T1ENSG00000079102ENST00000265814p.G273Gc.819C>ASubstitution - coding silent
RUNX1T1ENSG00000079102ENST00000360348p.G236Gc.708C>ASubstitution - coding silent
NLRP4ENSG00000160505ENST00000301295p.I219Ic.657C>TSubstitution - coding silent
TPTE2ENSG00000132958ENST00000390680p.G79Ac.236G>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S4304Fc.12911C>TSubstitution - Missense
VSIG4ENSG00000155659ENST00000374737p.T14Kc.41C>ASubstitution - Missense
AKR1C4ENSG00000198610ENST00000380448p.R47Hc.140G>ASubstitution - Missense
TCEB3CENSG00000183791ENST00000330682p.L367Lc.1099C>TSubstitution - coding silent
MGAT3ENSG00000128268ENST00000341184p.R95Lc.284G>TSubstitution - Missense
NLRP4ENSG00000160505ENST00000587891p.I144Ic.432C>TSubstitution - coding silent
EIF2DENSG00000143486ENST00000271764p.Y314Cc.941A>GSubstitution - Missense
SCAPERENSG00000140386ENST00000538941p.S89Cc.266C>GSubstitution - Missense
SELPLGENSG00000110876ENST00000550948p.T44Tc.132C>TSubstitution - coding silent
SELPLGENSG00000110876ENST00000388962p.T44Tc.132C>TSubstitution - coding silent
VCLENSG00000035403ENST00000211998p.I744Tc.2231T>CSubstitution - Missense
LARP4BENSG00000107929ENST00000316157p.Q615Hc.1845G>CSubstitution - Missense
SFTPA2ENSG00000185303ENST00000372325p.Y200Fc.599A>TSubstitution - Missense
SC5DENSG00000109929ENST00000392789p.H229Rc.686A>GSubstitution - Missense
VWA5AENSG00000110002ENST00000392748p.L37Fc.111G>CSubstitution - Missense
ENST00000349637p.T3676Ic.11027C>TSubstitution - Missense
SYT13ENSG00000019505ENST00000020926p.D192Ec.576C>GSubstitution - Missense
OR6Y1ENSG00000197532ENST00000302617p.I50fs*3c.147delTDeletion - Frameshift
LRP1ENSG00000123384ENST00000243077p.R2707Sc.8119C>ASubstitution - Missense
STAT6ENSG00000166888ENST00000300134p.I102Vc.304A>GSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.R5347Qc.16040G>ASubstitution - Missense
GUCY2CENSG00000070019ENST00000261170p.C506Sc.1516T>ASubstitution - Missense
FAM186BENSG00000135436ENST00000257894p.T696Tc.2088C>GSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.M3788Vc.11362A>GSubstitution - Missense
ALPK3ENSG00000136383ENST00000258888p.Q1881Lc.5642A>TSubstitution - Missense
ALPK3ENSG00000136383ENST00000258888p.Q1881Lc.5642A>TSubstitution - Missense
ALPK3ENSG00000136383ENST00000258888p.Q1881Qc.5643G>ASubstitution - coding silent
XRRA1ENSG00000166435ENST00000340360p.Y333Nc.997T>ASubstitution - Missense
NEU3ENSG00000162139ENST00000294064p.L434Lc.1302G>CSubstitution - coding silent
PWWP2BENSG00000171813ENST00000305233p.A308Ac.924G>ASubstitution - coding silent
MKI67ENSG00000148773ENST00000368654p.V1313Mc.3937G>ASubstitution - Missense
NM_173527.1p.R191Rc.573G>TSubstitution - coding silent
CBLN3ENSG00000139899ENST00000267406p.Y124Cc.371A>GSubstitution - Missense
IGHMBP2ENSG00000132740ENST00000255078p.K957Ec.2869A>GSubstitution - Missense
ALDH3B2ENSG00000132746ENST00000530069p.?c.874-5G>TUnknown
PZPENSG00000126838ENST00000381997p.P1126Tc.3376C>ASubstitution - Missense
ERCC5ENSG00000134899ENST00000355739p.S662Nc.1985G>ASubstitution - Missense
NALCNENSG00000102452ENST00000376196p.E85Qc.253G>CSubstitution - Missense
NALCNENSG00000102452ENST00000251127p.E85Qc.253G>CSubstitution - Missense
USP6NLENSG00000148429ENST00000277575p.N682Sc.2045A>GSubstitution - Missense
SH3PXD2AENSG00000107957ENST00000355946p.G308Sc.922G>ASubstitution - Missense
KIF21AENSG00000139116ENST00000361961p.F1031_M1034>Lc.3093_3101delCCTGTCAATComplex - deletion inframe
C1orf112ENSG00000000460ENST00000286031p.R53Sc.159G>TSubstitution - Missense
DNM3ENSG00000197959ENST00000358155p.D339Yc.1015G>TSubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.L65Lc.195T>CSubstitution - coding silent
BAI2ENSG00000121753ENST00000373658p.R1562Pc.4685G>CSubstitution - Missense
EIF3IENSG00000084623ENST00000373586p.?c.3+9C>TUnknown
MRGPRX4ENSG00000179817ENST00000314254p.L214Lc.640C>TSubstitution - coding silent
LHX4ENSG00000121454ENST00000263726p.?c.77-8C>TUnknown
HYOU1ENSG00000149428ENST00000404233p.E820Ec.2460A>GSubstitution - coding silent


COSMIC

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