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GI-ME-N - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

842 mutations reported
323 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
HIC2ENSG00000169635ENST00000407464p.Q172Qc.516A>GSubstitution - coding silent
HLA-CENSG00000204525ENST00000376228p.T187Kc.560C>ASubstitution - Missense
PCDHB5ENSG00000113209ENST00000231134p.A539Ac.1617G>TSubstitution - coding silent
GRAMD1AENSG00000089351ENST00000317991p.?c.219+7G>AUnknown
RPS3AENSG00000145425ENST00000274065p.K145fs*24c.430delADeletion - Frameshift
SH2D3CENSG00000095370ENST00000373276p.S314Sc.942G>TSubstitution - coding silent
KCNT1ENSG00000107147ENST00000263604p.F910Fc.2730C>TSubstitution - coding silent
PIEZO2ENSG00000154864ENST00000383408p.H134Lc.401A>TSubstitution - Missense
MYT1LENSG00000186487ENST00000428368p.G1009Gc.3027A>TSubstitution - coding silent
MASP1ENSG00000127241ENST00000169293p.M223Rc.668T>GSubstitution - Missense
CUL9ENSG00000112659ENST00000252050p.?c.3385-6C>TUnknown
MUC16ENSG00000181143ENST00000397910p.S4812Lc.14435C>TSubstitution - Missense
XM_170754.4p.A226Sc.676G>TSubstitution - Missense
LDLRAD1ENSG00000203985ENST00000420619p.R15Lc.44G>TSubstitution - Missense
PRAMEF10ENSG00000187545ENST00000235347p.I433Vc.1297A>GSubstitution - Missense
MSR1ENSG00000038945ENST00000381998p.A62Vc.185C>TSubstitution - Missense
NM_014916p.A1242Vc.3725C>TSubstitution - Missense
IFNAR1ENSG00000142166ENST00000270139p.T392Ic.1175C>TSubstitution - Missense
RFX3ENSG00000080298ENST00000382004p.R528Rc.1584T>GSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.T2736Tc.8208C>ASubstitution - coding silent
WDR33ENSG00000136709ENST00000322313p.T1155Ic.3464C>TSubstitution - Missense
ZNF804BENSG00000182348ENST00000333190p.Q1146Qc.3438G>ASubstitution - coding silent
ROCK2ENSG00000134318ENST00000315872p.Q1000Hc.3000A>TSubstitution - Missense
NLRP4ENSG00000160505ENST00000301295p.L957Lc.2871G>TSubstitution - coding silent
KCNU1ENSG00000215262ENST00000399881p.T1066Kc.3197C>ASubstitution - Missense
KLHL8ENSG00000145332ENST00000273963p.S56Tc.166T>ASubstitution - Missense
TNXBENSG00000168477ENST00000375244p.S550Sc.1650A>GSubstitution - coding silent
ITKENSG00000113263ENST00000422843p.?c.986-5C>TUnknown
RBFOX2ENSG00000100320ENST00000438146p.S143Gc.427A>GSubstitution - Missense
DENND2AENSG00000146966ENST00000492720p.K599Kc.1797G>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369351p.E18delEc.52_54delGAGDeletion - In frame
APOBRENSG00000184730ENST00000564831p.Q429Hc.1287G>TSubstitution - Missense
NM_001702.1p.P595Qc.1784C>ASubstitution - Missense
DHRS2ENSG00000100867ENST00000344777p.G250Gc.750G>ASubstitution - coding silent
PLEKHA6ENSG00000143850ENST00000272203p.L944Wc.2831T>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.E18delEc.52_54delGAGDeletion - In frame
ADCENSG00000142920ENST00000373443p.W381Cc.1143G>TSubstitution - Missense
NM_020777.1p.D885Nc.2653G>ASubstitution - Missense
ENSG00000188474ENST00000339302p.P180Pc.540C>TSubstitution - coding silent
DNAH2ENSG00000183914ENST00000389173p.G3288Gc.9864C>TSubstitution - coding silent
ENST00000331986p.S445Lc.1334C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.V7612Ac.22835T>CSubstitution - Missense
FOXD3ENSG00000187140ENST00000371116p.L261Rc.782T>GSubstitution - Missense
PKDREJENSG00000130943ENST00000253255p.Q802Kc.2404C>ASubstitution - Missense
TGFBR2ENSG00000163513ENST00000359013p.H353Hc.1059C>TSubstitution - coding silent
IMPG2ENSG00000081148ENST00000193391p.D343Yc.1027G>TSubstitution - Missense
LRRCC1ENSG00000133739ENST00000414626p.E804Dc.2412A>CSubstitution - Missense
PRSS58ENSG00000258223ENST00000547058p.F211Lc.631T>CSubstitution - Missense
DIRAS2ENSG00000165023ENST00000375765p.I116Ic.348C>TSubstitution - coding silent
RALGDSENSG00000160271ENST00000372050p.P843Pc.2529G>ASubstitution - coding silent
GRIA2ENSG00000120251ENST00000296526p.E412Gc.1235A>GSubstitution - Missense
ZHX2ENSG00000178764ENST00000314393p.Q149Kc.445C>ASubstitution - Missense
ENST00000255667p.L290Vc.868C>GSubstitution - Missense
BTBD2ENSG00000133243ENST00000255608p.I425Fc.1273A>TSubstitution - Missense
ITGB1ENSG00000150093ENST00000423113p.N492Nc.1476T>CSubstitution - coding silent
PCLOENSG00000186472ENST00000423517p.Y3978Yc.11934T>CSubstitution - coding silent
RABL6ENSG00000196642ENST00000435930p.S143Lc.428C>TSubstitution - Missense
LRP6ENSG00000070018ENST00000261349p.V314Vc.942C>GSubstitution - coding silent
CLCC1ENSG00000121940ENST00000369971p.L478Lc.1432C>TSubstitution - coding silent
INF2ENSG00000203485ENST00000392634p.R578Pc.1733G>CSubstitution - Missense
OR4K14ENSG00000169484ENST00000305045p.C170Fc.509G>TSubstitution - Missense
TIGD5ENSG00000179886ENST00000321385p.G583Rc.1747G>ASubstitution - Missense
ZNF823ENSG00000197933ENST00000341191p.D189Vc.566A>TSubstitution - Missense
MAP2K3ENSG00000034152ENST00000316920p.E345Gc.1034A>GSubstitution - Missense
FSBPENSG00000265817ENST00000481490p.Q156*c.466C>TSubstitution - Nonsense
GLIPR2ENSG00000122694ENST00000377960p.?c.226+1G>AUnknown
SLC13A1ENSG00000081800ENST00000194130p.T124Tc.372G>ASubstitution - coding silent
SEPT9ENSG00000184640ENST00000427177p.V303Mc.907G>ASubstitution - Missense
CPA6ENSG00000165078ENST00000297770p.R8Kc.23G>ASubstitution - Missense
LHX8ENSG00000162624ENST00000294638p.?c.268-4A>GUnknown
ENST00000394831p.P837Tc.2509C>ASubstitution - Missense
ZNF100ENSG00000197020ENST00000358296p.N443Yc.1327A>TSubstitution - Missense
ATP6V1C2ENSG00000143882ENST00000381661p.T199Ac.595A>GSubstitution - Missense
NEBENSG00000183091ENST00000409198p.P5565Lc.16694C>TSubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.S730Fc.2189C>TSubstitution - Missense
NRDE2ENSG00000119720ENST00000354366p.?c.3297+4A>GUnknown
PKP2ENSG00000057294ENST00000070846p.L550Lc.1650C>TSubstitution - coding silent
C11orf71ENSG00000180425ENST00000325636p.G38Rc.112G>ASubstitution - Missense
NBPF14ENSG00000122497ENST00000369219p.?c.1565+10G>AUnknown
ANGEL1ENSG00000013523ENST00000251089p.Q54*c.160C>TSubstitution - Nonsense
EIF3AENSG00000107581ENST00000369144p.D1266Nc.3796G>ASubstitution - Missense
SLC18A2ENSG00000165646ENST00000298472p.T283Sc.847A>TSubstitution - Missense
ARCENSG00000198576ENST00000356613p.D289Ac.866A>CSubstitution - Missense
ACEENSG00000159640ENST00000290863p.?c.200-3C>TUnknown
PSKH2ENSG00000147613ENST00000276616p.Y63*c.189T>ASubstitution - Nonsense
TNFRSF13BENSG00000240505ENST00000261652p.C230Cc.690C>TSubstitution - coding silent
KARSENSG00000065427ENST00000302445p.D445Gc.1334A>GSubstitution - Missense
PRR5ENSG00000186654ENST00000336985p.I365Vc.1093A>GSubstitution - Missense
ENST00000326474_v71p.S208Yc.623C>ASubstitution - Missense
CD28ENSG00000178562ENST00000324106p.T131Tc.393C>TSubstitution - coding silent
MYO6ENSG00000196586ENST00000369977p.T1124Tc.3372T>CSubstitution - coding silent
LARS2ENSG00000011376ENST00000265537p.A255Tc.763G>ASubstitution - Missense
NPHP3ENSG00000113971ENST00000337331p.T744Tc.2232T>CSubstitution - coding silent
GIGYF1ENSG00000146830ENST00000275732p.E339Ec.1017A>GSubstitution - coding silent
GTF2IRD2ENSG00000196275ENST00000405086p.W794*c.2382G>ASubstitution - Nonsense
RPS6KC1ENSG00000136643ENST00000543354p.D378Yc.1132G>TSubstitution - Missense
FOLH1ENSG00000086205ENST00000256999p.L374Lc.1122G>TSubstitution - coding silent
STRBPENSG00000165209ENST00000447404p.P557Pc.1671A>GSubstitution - coding silent
PSMD2ENSG00000175166ENST00000310118p.S508Ac.1522T>GSubstitution - Missense
NEBENSG00000183091ENST00000397345p.P7266Lc.21797C>TSubstitution - Missense
C12orf44ENSG00000123395ENST00000336854p.N176Nc.528C>TSubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.P3910Pc.11730G>ASubstitution - coding silent
NRP1ENSG00000099250ENST00000374823p.G654Dc.1961G>ASubstitution - Missense
ANKRD27ENSG00000105186ENST00000306065p.A589Ac.1767G>ASubstitution - coding silent
C1GALT1ENSG00000106392ENST00000402468p.N44Hc.130A>CSubstitution - Missense
SIDT1ENSG00000072858ENST00000393830p.?c.515+7G>AUnknown
BAHD1ENSG00000140320ENST00000416165p.R481Sc.1443A>TSubstitution - Missense
PRAMEF2ENSG00000120952ENST00000240189p.S24Ac.70T>GSubstitution - Missense
OR2L13ENSG00000196071ENST00000366478p.L204Vc.610C>GSubstitution - Missense
MED8ENSG00000159479ENST00000290663p.V182Vc.546G>ASubstitution - coding silent
PLA2G4FENSG00000168907ENST00000382396p.A833Sc.2497G>TSubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.G1569Rc.4705G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.R21215Hc.63644G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S4812Lc.14435C>TSubstitution - Missense
REREENSG00000142599ENST00000400908p.R575Rc.1723C>ASubstitution - coding silent
FSIP1ENSG00000150667ENST00000350221p.L111Lc.333A>GSubstitution - coding silent
MAN1A1ENSG00000111885ENST00000368468p.A292Tc.874G>ASubstitution - Missense
MRPL50ENSG00000136897ENST00000374865p.E76Ac.227A>CSubstitution - Missense
SBF1ENSG00000100241ENST00000380817p.P707Pc.2121C>TSubstitution - coding silent
PNMAL1ENSG00000182013ENST00000438932p.P294Pc.882C>TSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.T3957Ac.11869A>GSubstitution - Missense
PDZD2ENSG00000133401ENST00000282493p.G843Vc.2528G>TSubstitution - Missense
MNX1ENSG00000130675ENST00000252971p.R349Rc.1047G>ASubstitution - coding silent
MUC21ENSG00000204544ENST00000376296p.N32Nc.96C>TSubstitution - coding silent
DBF4BENSG00000161692ENST00000315005p.G257Rc.769G>ASubstitution - Missense
SHROOM1ENSG00000164403ENST00000319854p.?c.979-10A>GUnknown
PLSCR2ENSG00000163746ENST00000497985p.R126Mc.377G>TSubstitution - Missense
SORCS2ENSG00000184985ENST00000507866p.D1035Nc.3103G>ASubstitution - Missense
EEF1DENSG00000104529ENST00000423316p.G95Rc.283G>ASubstitution - Missense
XM_291344.4p.T74Sc.220A>TSubstitution - Missense
OR5T2ENSG00000181718ENST00000313264p.G80Ac.239G>CSubstitution - Missense
MYOFENSG00000138119ENST00000371501p.R1021Qc.3062G>ASubstitution - Missense
ZNF572ENSG00000180938ENST00000319286p.E79Dc.237G>TSubstitution - Missense
RPGRIP1ENSG00000092200ENST00000400017p.L124fs*45c.370_375CTGCAA>ATComplex - frameshift
ENST00000349637p.P3865Pc.11595G>ASubstitution - coding silent
RPS6KC1ENSG00000136643ENST00000366960p.D675Yc.2023G>TSubstitution - Missense
EVPLENSG00000167880ENST00000301607p.P299Ac.895C>GSubstitution - Missense
SU_WNK2p.R2203Sc.6609A>TSubstitution - Missense
ENST00000331986p.V7391Ic.22171G>ASubstitution - Missense
KLHDC7AENSG00000179023ENST00000400664p.P319Lc.956C>TSubstitution - Missense
ATP8B1ENSG00000081923ENST00000283684p.T584Tc.1752T>CSubstitution - coding silent
BCL2L12ENSG00000126453ENST00000246785p.?c.359+7G>AUnknown
MYH14ENSG00000105357ENST00000262269p.N1809Nc.5427C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.V11758Ic.35272G>ASubstitution - Missense
NM_003319p.A425_V426insAAc.1276_1277insCAGCTGInsertion - In frame
MUC17ENSG00000169876ENST00000306151p.T2456Tc.7368T>ASubstitution - coding silent
PRR5ENSG00000186654ENST00000403581p.I388Vc.1162A>GSubstitution - Missense
VDAC3ENSG00000078668ENST00000022615p.W87*c.261G>ASubstitution - Nonsense
OR2AE1ENSG00000244623ENST00000316368p.S87Sc.261T>CSubstitution - coding silent
METTL24ENSG00000053328ENST00000338882p.V277Ic.829G>ASubstitution - Missense
HTR3DENSG00000186090ENST00000382489p.A113Ac.339A>CSubstitution - coding silent
AGTENSG00000135744ENST00000366667p.A485Ac.1455A>GSubstitution - coding silent
RHBGENSG00000132677ENST00000368249p.P16Pc.48C>ASubstitution - coding silent
RYR3ENSG00000198838ENST00000389232p.R101Kc.302G>ASubstitution - Missense
CATSPERBENSG00000133962ENST00000256343p.T905Tc.2715C>TSubstitution - coding silent
DENND4BENSG00000198837ENST00000361217p.?c.2606-4G>AUnknown
DMXL2ENSG00000104093ENST00000251076p.G1949Gc.5847C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.E84delEc.250_252delGAGDeletion - In frame
STX2ENSG00000111450ENST00000392373p.Q118Hc.354G>TSubstitution - Missense
NBPF14ENSG00000122497ENST00000310701p.?c.1582+10G>AUnknown
PHKBENSG00000102893ENST00000323584p.D624Ac.1871A>CSubstitution - Missense
PHKBENSG00000102893ENST00000566044p.D617Ac.1850A>CSubstitution - Missense
FOXK2ENSG00000141568ENST00000335255p.A643Ac.1929C>TSubstitution - coding silent
CPED1ENSG00000106034ENST00000310396p.E839*c.2515G>TSubstitution - Nonsense
TIMP2ENSG00000035862ENST00000262768p.T157Mc.470C>TSubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.?c.1213-6C>AUnknown
TTNENSG00000155657ENST00000342992p.A425_V426insAAc.1276_1277insCAGCTGInsertion - In frame
ENST00000356127p.A425_V426insAAc.1276_1277insCAGCTGInsertion - In frame
VEPH1ENSG00000197415ENST00000392832p.N93Nc.279C>TSubstitution - coding silent
ENST00000329373p.T294Ac.880A>GSubstitution - Missense
WDR49ENSG00000174776ENST00000453925p.?c.412-3C>TUnknown
ATRXENSG00000085224ENST00000373344p.L165Lc.495T>CSubstitution - coding silent
SULT1A1ENSG00000196502ENST00000314752p.E68Ec.204G>ASubstitution - coding silent
ENST00000434489p.?c.560+10G>AUnknown
ATP12AENSG00000075673ENST00000218548p.G546Gc.1638C>TSubstitution - coding silent
ENST00000425287p.S97Rc.291C>ASubstitution - Missense
ENST00000319396p.G344Ec.1031G>ASubstitution - Missense
PTPRN2ENSG00000155093ENST00000404321p.G938Ec.2813G>ASubstitution - Missense
RNF19AENSG00000034677ENST00000519449p.L768Lc.2304G>CSubstitution - coding silent
NLRP2ENSG00000022556ENST00000543010p.V637Ic.1909G>ASubstitution - Missense
PWP1ENSG00000136045ENST00000412830p.N279Dc.835A>GSubstitution - Missense
PREPLENSG00000138078ENST00000260648p.D683Vc.2048A>TSubstitution - Missense
KLHL5ENSG00000109790ENST00000381930p.G281Dc.842G>ASubstitution - Missense
NBPF10ENSG00000163386ENST00000369338p.Y617*c.1851C>GSubstitution - Nonsense
XM_372608.1p.?c.863-7C>TUnknown
ZNF362ENSG00000160094ENST00000373428p.A136Ac.408G>ASubstitution - coding silent
DNMBPENSG00000107554ENST00000342239p.V1514Ic.4540G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T4796Rc.14387C>GSubstitution - Missense
DNASE2BENSG00000137976ENST00000370665p.W140*c.420G>ASubstitution - Nonsense
OR2T27ENSG00000187701ENST00000344889p.S93Sc.279C>TSubstitution - coding silent
XM_031689.7p.G584Gc.1752C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.L16531Lc.49593G>CSubstitution - coding silent
NLRP7ENSG00000167634ENST00000328092p.Q358Hc.1074G>TSubstitution - Missense
ZNF823ENSG00000197933ENST00000341191p.D189Vc.566A>TSubstitution - Missense
FAM53CENSG00000120709ENST00000239906p.S82Gc.244A>GSubstitution - Missense
MEGF10ENSG00000145794ENST00000274473p.S24Sc.72A>GSubstitution - coding silent
CSMD3ENSG00000164796ENST00000297405p.L1455Fc.4365G>TSubstitution - Missense
SCN10AENSG00000185313ENST00000449082p.I1952Ic.5856T>CSubstitution - coding silent
ENST00000345702p.I614Sc.1841T>GSubstitution - Missense
PSG6ENSG00000170848ENST00000292125p.K402Kc.1206G>ASubstitution - coding silent
PI4KAENSG00000241973ENST00000572273p.T984Tc.2952G>ASubstitution - coding silent
GABBR1ENSG00000204681ENST00000377034p.T315Tc.945C>ASubstitution - coding silent
RPGRIP1ENSG00000092200ENST00000206660p.L124fs*45c.370_375CTGCAA>ATComplex - frameshift
PSG6ENSG00000170848ENST00000187910p.K402Kc.1206G>ASubstitution - coding silent
ZFHX3ENSG00000140836ENST00000268489p.R3381_Q3388delRQLQQQQQc.10142_10165del24Deletion - In frame
NEBENSG00000183091ENST00000427231p.P7266Lc.21797C>TSubstitution - Missense
ACY3ENSG00000132744ENST00000255082p.A93Dc.278C>ASubstitution - Missense
PLSCR2ENSG00000163746ENST00000336685p.R53Mc.158G>TSubstitution - Missense
ANKRD35ENSG00000198483ENST00000355594p.M518Tc.1553T>CSubstitution - Missense
LYZL1ENSG00000120563ENST00000375500p.S19Sc.57C>TSubstitution - coding silent
DPTENSG00000143196ENST00000367817p.R138Kc.413G>ASubstitution - Missense
COL13A1ENSG00000197467ENST00000398978p.G374Gc.1122C>TSubstitution - coding silent
SLAMF1ENSG00000117090ENST00000302035p.P187Ac.559C>GSubstitution - Missense
SYAP1ENSG00000169895ENST00000380155p.?c.436-8T>CUnknown
ENST00000377143p.E50Qc.148G>CSubstitution - Missense
OR14J1ENSG00000204695ENST00000377160p.Q98Hc.294G>TSubstitution - Missense
NM_006218.1p.K271Rc.812A>GSubstitution - Missense
RALGDSENSG00000160271ENST00000542690p.P914Pc.2742G>ASubstitution - coding silent
COX11ENSG00000166260ENST00000576370p.A187Ac.561T>CSubstitution - coding silent
NM_139238.1p.E523*c.1567G>TSubstitution - Nonsense
SIDT1ENSG00000072858ENST00000264852p.?c.515+7G>AUnknown
SEPT9ENSG00000184640ENST00000423034p.V296Mc.886G>ASubstitution - Missense
PAPOLAENSG00000090060ENST00000557320p.H234Rc.701A>GSubstitution - Missense
VWA5B1ENSG00000158816ENST00000375083p.V916Ec.2747T>ASubstitution - Missense
NUP214ENSG00000126883ENST00000359428p.N586Tc.1757A>CSubstitution - Missense
ACOT8ENSG00000101473ENST00000217455p.P192Tc.574C>ASubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
INF2ENSG00000203485ENST00000392634p.R578Pc.1733G>CSubstitution - Missense
ENST00000368915p.G1698Rc.5092G>ASubstitution - Missense
FILIP1ENSG00000118407ENST00000393004p.M317Kc.950T>ASubstitution - Missense
RPS6KA5ENSG00000100784ENST00000261991p.T755Tc.2265G>ASubstitution - coding silent
C11orf21ENSG00000110665ENST00000456145p.D29Dc.87C>TSubstitution - coding silent
ENST00000306030_v65p.R406Rc.1218C>GSubstitution - coding silent
DVL1ENSG00000107404ENST00000378891p.R567Cc.1699C>TSubstitution - Missense
FLGENSG00000143631ENST00000368799p.P3762Tc.11284C>ASubstitution - Missense
SCYL1ENSG00000142186ENST00000270176p.N423Nc.1269C>TSubstitution - coding silent
ERCC5ENSG00000134899ENST00000355739p.I661Ic.1983T>CSubstitution - coding silent
SRCIN1ENSG00000017373ENST00000264659p.L759Vc.2275C>GSubstitution - Missense
PRDM15ENSG00000141956ENST00000269844p.S154Pc.460T>CSubstitution - Missense
POFUT2ENSG00000186866ENST00000349485p.L166Lc.496C>TSubstitution - coding silent
EPHA4ENSG00000116106ENST00000281821p.N423Kc.1269C>ASubstitution - Missense
IL37ENSG00000125571ENST00000263326p.G9*c.25G>TSubstitution - Nonsense
PCDH10ENSG00000138650ENST00000264360p.I564Tc.1691T>CSubstitution - Missense
ZSCAN32ENSG00000140987ENST00000304926p.L476Lc.1428C>GSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.L22903Lc.68709G>CSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.L16598Lc.49794G>CSubstitution - coding silent
CXXC1ENSG00000154832ENST00000285106p.Q249Lc.746A>TSubstitution - Missense
KLHL5ENSG00000109790ENST00000504108p.G281Dc.842G>ASubstitution - Missense
ENST00000319379p.S1081Sc.3243T>CSubstitution - coding silent
LRRC61ENSG00000127399ENST00000323078p.W231Lc.692G>TSubstitution - Missense
KIAA1009ENSG00000135315ENST00000403245p.E1175Vc.3524A>TSubstitution - Missense
ME1ENSG00000065833ENST00000369705p.?c.601-1G>CUnknown
KIF2BENSG00000141200ENST00000268919p.P8Lc.23C>TSubstitution - Missense
PNMAL1ENSG00000182013ENST00000313683p.P294Pc.882C>TSubstitution - coding silent
C1GALT1ENSG00000106392ENST00000223122p.H50Yc.148C>TSubstitution - Missense
ADAMTSL4ENSG00000143382ENST00000369039p.R87Qc.260G>ASubstitution - Missense
NXF1ENSG00000162231ENST00000531709p.R105Rc.315A>GSubstitution - coding silent
RUNX2ENSG00000124813ENST00000465038p.P296Lc.887C>TSubstitution - Missense
PSG2ENSG00000242221ENST00000406487p.H237Yc.709C>TSubstitution - Missense
DPP6ENSG00000130226ENST00000404039p.R614Qc.1841G>ASubstitution - Missense
MACC1ENSG00000183742ENST00000332878p.K701*c.2101A>TSubstitution - Nonsense
CRKLENSG00000099942ENST00000354336p.A102Ac.306G>TSubstitution - coding silent
PWWP2AENSG00000170234ENST00000456329p.L184Lc.552C>TSubstitution - coding silent
OR10G6ENSG00000198674ENST00000307002p.D196Nc.586G>ASubstitution - Missense
FAM78AENSG00000126882ENST00000464831p.S221Sc.663C>TSubstitution - coding silent
KARSENSG00000065427ENST00000319410p.D473Gc.1418A>GSubstitution - Missense
DDX47ENSG00000213782ENST00000358007p.R284*c.850C>TSubstitution - Nonsense
LRRC1ENSG00000137269ENST00000370888p.I308Tc.923T>CSubstitution - Missense
ENST00000293882_v62p.?c.386+5G>TUnknown
FCGBPENSG00000090920ENST00000221347p.T3176Mc.9527C>TSubstitution - Missense
TNRC18ENSG00000182095ENST00000430969p.L1254Pc.3761T>CSubstitution - Missense
SLCO1B1ENSG00000134538ENST00000256958p.G478Gc.1434A>GSubstitution - coding silent
PLCE1ENSG00000138193ENST00000371375p.S453Lc.1358C>TSubstitution - Missense
CLIP1ENSG00000130779ENST00000358808p.G243Gc.729C>TSubstitution - coding silent
SLC4A3ENSG00000114923ENST00000273063p.D460Gc.1379A>GSubstitution - Missense
NUTM2GENSG00000188152ENST00000372322p.G546*c.1636G>TSubstitution - Nonsense
TTNENSG00000155657ENST00000359218p.A425_V426insAAc.1276_1277insCAGCTGInsertion - In frame
LOXHD1ENSG00000167210ENST00000398722p.G759Sc.2275G>ASubstitution - Missense
NSUN7ENSG00000179299ENST00000381782p.P627Sc.1879C>TSubstitution - Missense
UGT2B15ENSG00000196620ENST00000338206p.V28Lc.82G>CSubstitution - Missense
ENST00000329047_v70p.V285Mc.853G>ASubstitution - Missense
CHRNDENSG00000135902ENST00000258385p.D367Yc.1099G>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.R2970Kc.8909G>ASubstitution - Missense
VEPH1ENSG00000197415ENST00000494677p.N93Nc.279C>TSubstitution - coding silent
DYSFENSG00000135636ENST00000410020p.M1405Vc.4213A>GSubstitution - Missense
LRRC36ENSG00000159708ENST00000329956p.H431Yc.1291C>TSubstitution - Missense
CAPN15ENSG00000103326ENST00000219611p.N241Sc.722A>GSubstitution - Missense
CAMK4ENSG00000152495ENST00000512453p.R39Mc.116G>TSubstitution - Missense
ADH1BENSG00000196616ENST00000305046p.K316Mc.947A>TSubstitution - Missense
NM_020416.2p.E87Dc.261G>CSubstitution - Missense
NM_002847.2p.G915Ec.2744G>ASubstitution - Missense
ENST00000335500p.K1160Rc.3479A>GSubstitution - Missense
SBF1ENSG00000100241ENST00000390679p.P707Pc.2121C>TSubstitution - coding silent
ARRDC2ENSG00000105643ENST00000222250p.F110Fc.330C>TSubstitution - coding silent
CPA6ENSG00000165078ENST00000518549p.R8Kc.23G>ASubstitution - Missense
MICAL1ENSG00000135596ENST00000368952p.R834Lc.2501G>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000400164p.L234Lc.700C>TSubstitution - coding silent
ADAMTSL4ENSG00000143382ENST00000369041p.R87Qc.260G>ASubstitution - Missense
CLIP1ENSG00000130779ENST00000540338p.G243Gc.729C>TSubstitution - coding silent
MYOFENSG00000138119ENST00000371502p.R1021Qc.3062G>ASubstitution - Missense
MYO3BENSG00000071909ENST00000408978p.?c.186+1G>AUnknown
GFRALENSG00000187871ENST00000340465p.I280Rc.839T>GSubstitution - Missense
ADCENSG00000142920ENST00000398167p.W401Cc.1203G>TSubstitution - Missense
C12orf40ENSG00000180116ENST00000324616p.I617Vc.1849A>GSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.T3682Mc.11045C>TSubstitution - Missense
NM_033667.1p.N492Nc.1476T>CSubstitution - coding silent
SPTLC3ENSG00000172296ENST00000450297p.W205*c.615G>ASubstitution - Nonsense
MIER1ENSG00000198160ENST00000355356p.A231Ac.693A>GSubstitution - coding silent
THAP3ENSG00000041988ENST00000054650p.R221Cc.661C>TSubstitution - Missense
ZNF280DENSG00000137871ENST00000267807p.S888Lc.2663C>TSubstitution - Missense
PUS1ENSG00000177192ENST00000376649p.E269Kc.805G>ASubstitution - Missense
HN1LENSG00000206053ENST00000248098p.D161Hc.481G>CSubstitution - Missense
PARD3BENSG00000116117ENST00000358768p.R275Cc.823C>TSubstitution - Missense
ENST00000541862p.V355Lc.1063G>TSubstitution - Missense
GEN1ENSG00000178295ENST00000381254p.?c.161+9A>GUnknown
TLR6ENSG00000174130ENST00000381950p.V427Ic.1279G>ASubstitution - Missense
PNMAL1ENSG00000182013ENST00000313683p.E85Ac.254A>CSubstitution - Missense
PNMAL1ENSG00000182013ENST00000438932p.E85Ac.254A>CSubstitution - Missense
C1GALT1ENSG00000106392ENST00000223122p.N44Hc.130A>CSubstitution - Missense
SLC4A5ENSG00000188687ENST00000394019p.G869Sc.2605G>ASubstitution - Missense
PCDHB8ENSG00000120322ENST00000239444p.T433Tc.1299A>CSubstitution - coding silent
FILIP1ENSG00000118407ENST00000237172p.M317Kc.950T>ASubstitution - Missense
SLC34A2ENSG00000157765ENST00000382051p.G551Sc.1651G>ASubstitution - Missense
DEFB135ENSG00000205883ENST00000382208p.R39Lc.116G>TSubstitution - Missense
ZFYVE16ENSG00000039319ENST00000338008p.P981Sc.2941C>TSubstitution - Missense
MROH9ENSG00000117501ENST00000367758p.L456Lc.1368G>TSubstitution - coding silent
C1GALT1ENSG00000106392ENST00000402468p.H50Yc.148C>TSubstitution - Missense
ZSCAN32ENSG00000140987ENST00000396852p.L688Lc.2064C>GSubstitution - coding silent
MIER1ENSG00000198160ENST00000371014p.A284Ac.852A>GSubstitution - coding silent
VIMENSG00000026025ENST00000421459p.H79Hc.237T>CSubstitution - coding silent
ENST00000331699p.V139Vc.417C>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.V2443Gc.7328T>GSubstitution - Missense
CD36ENSG00000135218ENST00000435819p.?c.818+5G>AUnknown
MANBAENSG00000109323ENST00000226578p.A517Gc.1550C>GSubstitution - Missense
TRMT10CENSG00000174173ENST00000309922p.G310Wc.928G>TSubstitution - Missense
QPCTENSG00000115828ENST00000338415p.Q55Kc.163C>ASubstitution - Missense
KIAA1683ENSG00000130518ENST00000392413p.S679Sc.2037C>TSubstitution - coding silent
C3orf36ENSG00000221972ENST00000408895p.L96Ic.286C>ASubstitution - Missense
DZIP1LENSG00000158163ENST00000327532p.S588Sc.1764C>TSubstitution - coding silent
ENST00000256343_v70p.T905Tc.2715C>TSubstitution - coding silent
ERCC8ENSG00000049167ENST00000265038p.V137Lc.409G>TSubstitution - Missense
TNXBENSG00000168477ENST00000375247p.S550Sc.1650A>GSubstitution - coding silent
JMJD8ENSG00000161999ENST00000293882p.?c.386+5G>TUnknown
SEMG2ENSG00000124157ENST00000372769p.Q381Ec.1141C>GSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.G3993Rc.11977G>ASubstitution - Missense
PSG1ENSG00000231924ENST00000244296p.V51Vc.153T>CSubstitution - coding silent
MNX1ENSG00000130675ENST00000543409p.R137Rc.411G>ASubstitution - coding silent
MYO6ENSG00000196586ENST00000369981p.T1134Tc.3402T>CSubstitution - coding silent
COL13A1ENSG00000197467ENST00000398972p.G374Gc.1122C>TSubstitution - coding silent
CAMTA1ENSG00000171735ENST00000303635p.K204Kc.612G>ASubstitution - coding silent
TSPAN1ENSG00000117472ENST00000372003p.L121Lc.363G>TSubstitution - coding silent
CHIT1ENSG00000133063ENST00000367229p.?c.1156+5G>AUnknown
OR2L13ENSG00000196071ENST00000358120p.L204Vc.610C>GSubstitution - Missense
ATG2AENSG00000110046ENST00000377264p.Y1127Cc.3380A>GSubstitution - Missense
MED31ENSG00000108590ENST00000225728p.S129Sc.387G>ASubstitution - coding silent
GLUD2ENSG00000182890ENST00000328078p.V506Vc.1518G>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.V2443Gc.7328T>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.Y3978Yc.11934T>CSubstitution - coding silent
CD36ENSG00000135218ENST00000447544p.?c.818+5G>AUnknown
SH3TC1ENSG00000125089ENST00000245105p.V948Mc.2842G>ASubstitution - Missense
PIEZO2ENSG00000154864ENST00000302079p.H846Lc.2537A>TSubstitution - Missense
FOXH1ENSG00000160973ENST00000377317p.G135Sc.403G>ASubstitution - Missense
MAN1A1ENSG00000111885ENST00000368466p.A315Tc.943G>ASubstitution - Missense
TMEM39AENSG00000176142ENST00000319172p.T173Nc.518C>ASubstitution - Missense
APOBRENSG00000184730ENST00000328423p.Q420Hc.1260G>TSubstitution - Missense
RALGDSENSG00000160271ENST00000393157p.P842Pc.2526G>ASubstitution - coding silent
FAM78AENSG00000126882ENST00000372269p.S249Sc.747C>TSubstitution - coding silent
RGPD4ENSG00000196862ENST00000354986p.T1635Kc.4904C>ASubstitution - Missense
KLHL5ENSG00000109790ENST00000359687p.G281Dc.842G>ASubstitution - Missense
PSG2ENSG00000242221ENST00000406487p.Y215Sc.644A>CSubstitution - Missense
ENST00000539307p.H324Hc.972C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.S5110Ac.15328T>GSubstitution - Missense
PSG1ENSG00000231924ENST00000312439p.V51Vc.153T>CSubstitution - coding silent
TUSC5ENSG00000184811ENST00000333813p.N56Nc.168C>TSubstitution - coding silent
SERPINA12ENSG00000165953ENST00000556881p.?c.906-6C>AUnknown
PRAMEF10ENSG00000187545ENST00000235347p.L430Fc.1288C>TSubstitution - Missense
OSBPL5ENSG00000021762ENST00000263650p.S586Lc.1757C>TSubstitution - Missense
HRNRENSG00000197915ENST00000368801p.Q1912Hc.5736A>TSubstitution - Missense
DPH1ENSG00000108963ENST00000263083p.?c.1022+9C>AUnknown
FAM211AENSG00000181350ENST00000470794p.H121Nc.361C>ASubstitution - Missense
TUSC5ENSG00000184811ENST00000333813p.M165Ic.495G>ASubstitution - Missense
UBXN2BENSG00000215114ENST00000399598p.Y132Cc.395A>GSubstitution - Missense
LPAENSG00000198670ENST00000316300p.?c.1179_1516del5542Unknown
ENST00000308137p.T47Ic.140C>TSubstitution - Missense
ENST00000265148.1p.N957Hc.2869A>CSubstitution - Missense
TRAK2ENSG00000115993ENST00000332624p.S26Lc.77C>TSubstitution - Missense
ENST00000388944p.K14Rc.41A>GSubstitution - Missense
PUM2ENSG00000055917ENST00000338086p.R814Cc.2440C>TSubstitution - Missense
EEF1DENSG00000104529ENST00000442189p.G95Rc.283G>ASubstitution - Missense
HARSENSG00000170445ENST00000504156p.D159Hc.475G>CSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.Y1176Yc.3528C>TSubstitution - coding silent
KCNIP4ENSG00000185774ENST00000382152p.L37Ic.109C>ASubstitution - Missense
PRMT10ENSG00000164169ENST00000322396p.C290Sc.869G>CSubstitution - Missense
BRD9ENSG00000028310ENST00000467963p.?c.1694-4G>TUnknown
DOLKENSG00000175283ENST00000372586p.0c.0Unknown
RHBGENSG00000132677ENST00000537040p.P16Pc.48C>ASubstitution - coding silent
RTL1ENSG00000254656ENST00000534062p.K56Nc.168G>TSubstitution - Missense
SGIP1ENSG00000118473ENST00000237247p.P165Lc.494C>TSubstitution - Missense
MIER1ENSG00000198160ENST00000357692p.A248Ac.744A>GSubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.G3999Rc.11995G>ASubstitution - Missense
DBF4BENSG00000161692ENST00000393547p.G257Rc.769G>ASubstitution - Missense
ENST00000301659_v70p.V277Vc.831A>GSubstitution - coding silent
TNFRSF13BENSG00000240505ENST00000437538p.C184Cc.552C>TSubstitution - coding silent
LRRC36ENSG00000159708ENST00000563189p.H310Yc.928C>TSubstitution - Missense
ZSCAN32ENSG00000140987ENST00000396852p.L688Ic.2062C>ASubstitution - Missense
APOBRENSG00000184730ENST00000564831p.V430Fc.1288G>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000336649p.L234Lc.700C>TSubstitution - coding silent
ENST00000319751p.R196Hc.587G>ASubstitution - Missense
NLRP9ENSG00000185792ENST00000590200p.R662*c.1984C>TSubstitution - Nonsense
NLRP7ENSG00000167634ENST00000446217p.Q386Hc.1158G>TSubstitution - Missense
MYH14ENSG00000105357ENST00000440075p.N1809Nc.5427C>TSubstitution - coding silent
PSG1ENSG00000231924ENST00000595356p.V51Vc.153T>CSubstitution - coding silent
ZNF396ENSG00000186496ENST00000589332p.0c.0Unknown
ZNF396ENSG00000186496ENST00000586687p.0c.0Unknown
SRGAP3ENSG00000196220ENST00000360413p.T1058Tc.3174G>TSubstitution - coding silent
HTR3DENSG00000186090ENST00000428798p.A52Ac.156A>CSubstitution - coding silent
NRXN1ENSG00000179915ENST00000402717p.A366Dc.1097C>ASubstitution - Missense
ENST00000398800_v70p.P500Hc.1499C>ASubstitution - Missense
SIMC1ENSG00000170085ENST00000332772p.I75Sc.224T>GSubstitution - Missense
SORCS2ENSG00000184985ENST00000329016p.D863Nc.2587G>ASubstitution - Missense
PCLOENSG00000186472ENST00000423517p.R2970Kc.8909G>ASubstitution - Missense
POM121ENSG00000196313ENST00000434423p.V1022Mc.3064G>ASubstitution - Missense
ABCB8ENSG00000197150ENST00000542328p.P359Rc.1076C>GSubstitution - Missense
LAMB4ENSG00000091128ENST00000388780p.P910Lc.2729C>TSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.T4100Ac.12298A>GSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.T2879Tc.8637C>ASubstitution - coding silent
NM_203494.1p.R306Wc.916C>TSubstitution - Missense
PLXNA1ENSG00000114554ENST00000393409p.R1105Cc.3313C>TSubstitution - Missense
NUP214ENSG00000126883ENST00000451030p.N586Tc.1757A>CSubstitution - Missense
ZNF592ENSG00000166716ENST00000299927p.T1024Tc.3072C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.V7612Ac.22835T>CSubstitution - Missense
TRIM63ENSG00000158022ENST00000374272p.K116Kc.348G>ASubstitution - coding silent
GOLGA5ENSG00000066455ENST00000163416p.L717Lc.2149T>CSubstitution - coding silent
ATXN7L2ENSG00000162650ENST00000369870p.G157delGc.469_471delGGCDeletion - In frame
VIMENSG00000026025ENST00000544301p.H253Hc.759T>CSubstitution - coding silent
PRAMEF12ENSG00000116726ENST00000357726p.V361Ec.1082T>ASubstitution - Missense
ENST00000470794_v68p.H121Nc.361C>ASubstitution - Missense
C3orf80ENSG00000180044ENST00000326474p.S139Yc.416C>ASubstitution - Missense
RGPD4ENSG00000196862ENST00000408999p.T1635Kc.4904C>ASubstitution - Missense
NBEAL1ENSG00000144426ENST00000449802p.K1304Rc.3911A>GSubstitution - Missense
GRIA2ENSG00000120251ENST00000264426p.E412Gc.1235A>GSubstitution - Missense
MICAL1ENSG00000135596ENST00000358807p.R815Lc.2444G>TSubstitution - Missense
RBFOX2ENSG00000100320ENST00000405409p.S73Gc.217A>GSubstitution - Missense
UBE2FENSG00000184182ENST00000272930p.G127Sc.379G>ASubstitution - Missense
DPP10ENSG00000175497ENST00000410059p.D135Yc.403G>TSubstitution - Missense
COL13A1ENSG00000197467ENST00000356340p.G374Gc.1122C>TSubstitution - coding silent
ENST00000288841p.L309Pc.926T>CSubstitution - Missense
AKAP13ENSG00000170776ENST00000361243p.S2537Sc.7611C>TSubstitution - coding silent
OR10K1ENSG00000173285ENST00000289451p.M288Vc.862A>GSubstitution - Missense
OR1I1ENSG00000094661ENST00000209540p.I120Ic.360C>TSubstitution - coding silent
PSG1ENSG00000231924ENST00000436291p.V51Vc.153T>CSubstitution - coding silent
XM_046751.7p.S583Sc.1749C>TSubstitution - coding silent
TBL3ENSG00000183751ENST00000568546p.L295Lc.885G>ASubstitution - coding silent
C11orf21ENSG00000110665ENST00000456145p.D29Dc.87C>TSubstitution - coding silent
NLRP7ENSG00000167634ENST00000448121p.Q358Hc.1074G>TSubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.R1448Qc.4343G>ASubstitution - Missense
ASTLENSG00000188886ENST00000342380p.A330Vc.989C>TSubstitution - Missense
ENST00000400449p.S77Tc.229T>ASubstitution - Missense
THOP1ENSG00000172009ENST00000307741p.L377Lc.1131G>TSubstitution - coding silent
SIX2ENSG00000170577ENST00000303077p.S245Rc.735C>ASubstitution - Missense
ARHGEF33ENSG00000214694ENST00000398800p.P500Hc.1499C>ASubstitution - Missense
LRRIQ4ENSG00000188306ENST00000340806p.G555Rc.1663G>ASubstitution - Missense
WDR49ENSG00000174776ENST00000308378p.?c.253-3C>TUnknown
RABL6ENSG00000196642ENST00000371663p.S350Lc.1049C>TSubstitution - Missense
RABL6ENSG00000196642ENST00000311502p.S427Lc.1280C>TSubstitution - Missense
KCNT1ENSG00000107147ENST00000298480p.F929Fc.2787C>TSubstitution - coding silent
RALGDSENSG00000160271ENST00000372062p.P814Pc.2442G>ASubstitution - coding silent
PIK3CAENSG00000121879ENST00000263967p.K271Rc.812A>GSubstitution - Missense
GEMIN5ENSG00000082516ENST00000285873p.S585Tc.1754G>CSubstitution - Missense
PCDHB13ENSG00000187372ENST00000341948p.A533Ac.1599T>CSubstitution - coding silent
LAMB4ENSG00000091128ENST00000205386p.P910Lc.2729C>TSubstitution - Missense
HLA-BENSG00000234745ENST00000412585p.S48Tc.142T>ASubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.T187Kc.560C>ASubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.H287Hc.861C>TSubstitution - coding silent
HLA-CENSG00000204525ENST00000383329p.H287Hc.861C>TSubstitution - coding silent
ENST00000539307p.T224Kc.671C>ASubstitution - Missense
GABBR1ENSG00000204681ENST00000377034p.K699Kc.2097G>ASubstitution - coding silent
ENST00000307063_v68p.L184Lc.552C>TSubstitution - coding silent
PWWP2AENSG00000170234ENST00000456329p.L184Lc.552C>TSubstitution - coding silent
TNRC18ENSG00000182095ENST00000430969p.L1254Pc.3761T>CSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.S1136Sc.3408T>CSubstitution - coding silent
TBRG4ENSG00000136270ENST00000258770p.L13Lc.37C>TSubstitution - coding silent
ABCB8ENSG00000197150ENST00000358849p.P447Rc.1340C>GSubstitution - Missense
PHLPP2ENSG00000040199ENST00000356272p.T1321Ic.3962C>TSubstitution - Missense
ENST00000316490_v65p.M2376Lc.7126A>CSubstitution - Missense
ENST00000316490p.M2328Lc.6982A>CSubstitution - Missense
ZNF180ENSG00000167384ENST00000221327p.I294fs*9c.874_875insAInsertion - Frameshift
ENST00000319396p.G344Ec.1031G>ASubstitution - Missense
CPAMD8ENSG00000160111ENST00000291440p.V1446Lc.4336G>CSubstitution - Missense
CPAMD8ENSG00000160111ENST00000291440p.?c.3286-1G>AUnknown
C19orf44ENSG00000105072ENST00000221671p.T276Ic.827C>TSubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.S730Fc.2189C>TSubstitution - Missense
DPP6ENSG00000130226ENST00000377770p.R678Qc.2033G>ASubstitution - Missense
DPP6ENSG00000130226ENST00000332007p.R616Qc.1847G>ASubstitution - Missense
PPP2R2CENSG00000074211ENST00000335585p.E87Dc.261G>CSubstitution - Missense
PIGGENSG00000174227ENST00000310340p.R752Hc.2255G>ASubstitution - Missense
RPRMENSG00000177519ENST00000325926p.G40Sc.118G>ASubstitution - Missense
EYA2ENSG00000064655ENST00000327619p.S256Sc.768C>TSubstitution - coding silent
SLC35C2ENSG00000080189ENST00000543605p.V4Fc.10G>TSubstitution - Missense
KHDRBS3ENSG00000131773ENST00000355849p.I46Ic.138C>TSubstitution - coding silent
NM_138995p.?c.186+1G>AUnknown
LRP2ENSG00000081479ENST00000263816p.Q4600Qc.13800G>ASubstitution - coding silent
XIRP2ENSG00000163092ENST00000295237p.A3424Tc.10270G>ASubstitution - Missense
SCN9AENSG00000169432ENST00000375387p.G617Rc.1849G>ASubstitution - Missense
SCN9AENSG00000169432ENST00000409672p.G616Rc.1846G>ASubstitution - Missense
CRKLENSG00000099942ENST00000354336p.F71Cc.212T>GSubstitution - Missense
NM_058004.1p.T984Tc.2952G>ASubstitution - coding silent
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
FAM78AENSG00000126882ENST00000372271p.S252Sc.756C>TSubstitution - coding silent
NUP188ENSG00000095319ENST00000372577p.?c.1_33-32>ATGGATUnknown
SH2D3CENSG00000095370ENST00000314830p.S382Sc.1146G>TSubstitution - coding silent
SH2D3CENSG00000095370ENST00000314830p.S382Sc.1146G>TSubstitution - coding silent
ZNF79ENSG00000196152ENST00000342483p.T328Tc.984C>TSubstitution - coding silent
PTGS1ENSG00000095303ENST00000362012p.L19Lc.57C>TSubstitution - coding silent
AKNAENSG00000106948ENST00000307564p.V1412Ic.4234G>ASubstitution - Missense
FGF18ENSG00000156427ENST00000274625p.R199Cc.595C>TSubstitution - Missense
MASP1ENSG00000127241ENST00000296280p.M223Rc.668T>GSubstitution - Missense
MASP1ENSG00000127241ENST00000337774p.M223Rc.668T>GSubstitution - Missense
RTP1ENSG00000175077ENST00000312295p.?c.272+10C>TUnknown
RUNX2ENSG00000124813ENST00000352853p.P364Lc.1091C>TSubstitution - Missense
C12orf40ENSG00000180116ENST00000398716p.E332Kc.994G>ASubstitution - Missense
OR5T3ENSG00000172489ENST00000303059p.T270Ac.808A>GSubstitution - Missense
OR51G1ENSG00000176879ENST00000321961p.V273Ic.817G>ASubstitution - Missense
ZFP62ENSG00000196670ENST00000512132p.T243Ac.727A>GSubstitution - Missense
DBF4ENSG00000006634ENST00000265728p.I416Tc.1247T>CSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.R2970Kc.8909G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.R2901Kc.8702G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.Y3978Yc.11934T>CSubstitution - coding silent
CD36ENSG00000135218ENST00000394788p.?c.818+5G>AUnknown
CD36ENSG00000135218ENST00000435819p.?c.818+5G>AUnknown
HOXA7ENSG00000122592ENST00000242159p.T195Ic.584C>TSubstitution - Missense
IRS1ENSG00000169047ENST00000305123p.T1219Pc.3655A>CSubstitution - Missense
EPHA4ENSG00000116106ENST00000281821p.N423Kc.1269C>ASubstitution - Missense
VIL1ENSG00000127831ENST00000248444p.S339Lc.1016C>TSubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.G266Vc.797G>TSubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.G266Vc.797G>TSubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.Q1000Hc.3000A>TSubstitution - Missense
PPEF1ENSG00000086717ENST00000361511p.I276Mc.828C>GSubstitution - Missense
C3orf56ENSG00000214324ENST00000398112p.F130Lc.388T>CSubstitution - Missense
ETAA1ENSG00000143971ENST00000272342p.P142Pc.426T>GSubstitution - coding silent
COL6A3ENSG00000163359ENST00000295550p.L1101Lc.3303G>TSubstitution - coding silent
COL6A3ENSG00000163359ENST00000392004p.L895Lc.2685G>TSubstitution - coding silent
SLC16A14ENSG00000163053ENST00000295190p.I446Vc.1336A>GSubstitution - Missense
SETD2ENSG00000181555ENST00000409792p.Q1344Hc.4032G>TSubstitution - Missense
SETD2ENSG00000181555ENST00000330022p.Q841Hc.2523G>TSubstitution - Missense
PKDREJENSG00000130943ENST00000253255p.R799Qc.2396G>ASubstitution - Missense
ENST00000539430p.E58Ec.174A>GSubstitution - coding silent
TBCCENSG00000124659ENST00000372876p.L131Lc.393G>ASubstitution - coding silent
PAPD4ENSG00000164329ENST00000296783p.N440Nc.1320T>CSubstitution - coding silent
ATRXENSG00000085224ENST00000373344p.L165Lc.495T>CSubstitution - coding silent
ZXDAENSG00000198205ENST00000358697p.G768*c.2302G>TSubstitution - Nonsense
ADAMTSL1ENSG00000178031ENST00000380548p.E523*c.1567G>TSubstitution - Nonsense
POM121ENSG00000196313ENST00000257622p.V757Mc.2269G>ASubstitution - Missense
POM121ENSG00000196313ENST00000395270p.V757Mc.2269G>ASubstitution - Missense
CERS1ENSG00000223802ENST00000427170p.D137Ec.411C>GSubstitution - Missense
ENST00000427170_v68p.D137Ec.411C>GSubstitution - Missense
CRLF1ENSG00000006016ENST00000392386p.G158Ac.473G>CSubstitution - Missense
ENST00000359737p.S679Sc.2037C>TSubstitution - coding silent
ARRDC2ENSG00000105643ENST00000379656p.F105Fc.315C>TSubstitution - coding silent
RAB6CENSG00000222014ENST00000410061p.A3Ac.9G>TSubstitution - coding silent
APOBRENSG00000184730ENST00000328423p.V421Fc.1261G>TSubstitution - Missense
RUVBL2ENSG00000183207ENST00000221413p.G105Sc.313G>ASubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.?c.2429-3C>TUnknown
FBN2ENSG00000138829ENST00000262464p.?c.2429-3C>TUnknown
ANAPC4ENSG00000053900ENST00000315368p.T624Tc.1872A>GSubstitution - coding silent
PPARGC1AENSG00000109819ENST00000264867p.S741*c.2222C>GSubstitution - Nonsense
FAT1ENSG00000083857ENST00000441802p.Y1176Yc.3528C>TSubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.P4317Sc.12949C>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.P4317Sc.12949C>TSubstitution - Missense
LRBAENSG00000198589ENST00000357115p.W2638Rc.7912T>CSubstitution - Missense
XPCENSG00000154767ENST00000285021p.S484Sc.1452C>TSubstitution - coding silent
LAMA1ENSG00000101680ENST00000389658p.G3038Gc.9114G>ASubstitution - coding silent
ANKRD32ENSG00000133302ENST00000265140p.L926Vc.2776C>GSubstitution - Missense
BRD9ENSG00000028310ENST00000323510p.?c.1406-4G>TUnknown
CSMD3ENSG00000164796ENST00000343508p.L1415Fc.4245G>TSubstitution - Missense
HS3ST5ENSG00000249853ENST00000312719p.K225Qc.673A>CSubstitution - Missense
KIAA1919ENSG00000173214ENST00000368847p.I94Vc.280A>GSubstitution - Missense
CACNA1IENSG00000100346ENST00000402142p.L234Lc.700C>TSubstitution - coding silent
CACNA1IENSG00000100346ENST00000404898p.L234Lc.700C>TSubstitution - coding silent
GABRR1ENSG00000146276ENST00000454853p.G399Sc.1195G>ASubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.G210Dc.629G>ASubstitution - Missense
BRCA1ENSG00000012048ENST00000471181p.R466Qc.1397G>ASubstitution - Missense
BRCA1ENSG00000012048ENST00000357654p.R466Qc.1397G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.A399Dc.1196C>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.A399Dc.1196C>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000406316p.A366Dc.1097C>ASubstitution - Missense
EPCAMENSG00000119888ENST00000263735p.A165Tc.493G>ASubstitution - Missense
GSDMAENSG00000167914ENST00000301659p.V277Vc.831A>GSubstitution - coding silent
SALL1ENSG00000103449ENST00000251020p.L989Lc.2967C>TSubstitution - coding silent
PHKBENSG00000102893ENST00000323584p.D624Ac.1871A>CSubstitution - Missense
HTTENSG00000197386ENST00000355072p.Q368Pc.1103A>CSubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.R1448Qc.4343G>ASubstitution - Missense
SVOPLENSG00000157703ENST00000419765p.R440Lc.1319G>TSubstitution - Missense
SVOPLENSG00000157703ENST00000288513p.R288Lc.863G>TSubstitution - Missense
ALDH5A1ENSG00000112294ENST00000348925p.E145*c.433G>TSubstitution - Nonsense
MSR1ENSG00000038945ENST00000262101p.A62Vc.185C>TSubstitution - Missense
LMTK2ENSG00000164715ENST00000297293p.A1242Vc.3725C>TSubstitution - Missense
KRIT1ENSG00000001631ENST00000394507p.S615Nc.1844G>ASubstitution - Missense
DENND2AENSG00000146966ENST00000275884p.K599Kc.1797G>ASubstitution - coding silent
NLRP2ENSG00000022556ENST00000543010p.I590Vc.1768A>GSubstitution - Missense
CCDC42ENSG00000161973ENST00000293845p.R227Rc.681C>TSubstitution - coding silent
NM_052947p.T1235Rc.3704C>GSubstitution - Missense
ALPK2ENSG00000198796ENST00000361673p.T1874Rc.5621C>GSubstitution - Missense
TCF4ENSG00000196628ENST00000544241p.?c.94+1G>AUnknown
LOXHD1ENSG00000167210ENST00000536736p.G1037Sc.3109G>ASubstitution - Missense
LRRCC1ENSG00000133739ENST00000360375p.E824Dc.2472A>CSubstitution - Missense
ATF2ENSG00000115966ENST00000264110p.P247Pc.741A>TSubstitution - coding silent
PARD3BENSG00000116117ENST00000358768p.R275Cc.823C>TSubstitution - Missense
PARD3BENSG00000116117ENST00000351153p.R275Cc.823C>TSubstitution - Missense
ENST00000541862p.P456Tc.1366C>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.R14843Hc.44528G>ASubstitution - Missense
ENST00000356127p.R21213Hc.63638G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.R14910Hc.44729G>ASubstitution - Missense
NM_003319p.R14718Hc.44153G>ASubstitution - Missense
ENST00000356127p.L22901Lc.68703G>CSubstitution - coding silent
NM_003319p.L16406Lc.49218G>CSubstitution - coding silent
ZSCAN32ENSG00000140987ENST00000304926p.L476Ic.1426C>ASubstitution - Missense
GUCA1CENSG00000138472ENST00000261047p.M116Lc.346A>CSubstitution - Missense
GUCA1CENSG00000138472ENST00000393963p.M116Lc.346A>CSubstitution - Missense
TRMT10CENSG00000174173ENST00000309922p.I309Ic.927T>CSubstitution - coding silent
GPR128ENSG00000144820ENST00000273352p.F51Lc.151T>CSubstitution - Missense
CNGA3ENSG00000144191ENST00000272602p.K624Rc.1871A>GSubstitution - Missense
ABHD1ENSG00000143994ENST00000316470p.G101Gc.303C>TSubstitution - coding silent
CXXC11ENSG00000188011ENST00000343216p.L275Lc.825C>GSubstitution - coding silent
PRKCGENSG00000126583ENST00000263431p.K44Nc.132G>CSubstitution - Missense
PRKCGENSG00000126583ENST00000540413p.K44Nc.132G>CSubstitution - Missense
MYH1ENSG00000109061ENST00000226207p.E1512Kc.4534G>ASubstitution - Missense
TTC27ENSG00000018699ENST00000317907p.L590Lc.1770A>GSubstitution - coding silent
GCKRENSG00000084734ENST00000264717p.Q524*c.1570C>TSubstitution - Nonsense
CRYBB3ENSG00000100053ENST00000215855p.G84Rc.250G>ASubstitution - Missense
TIGD2ENSG00000180346ENST00000317005p.K165Ec.493A>GSubstitution - Missense
CENPEENSG00000138778ENST00000265148p.N957Hc.2869A>CSubstitution - Missense
CATSPERDENSG00000174898ENST00000381624p.F265Yc.794T>ASubstitution - Missense
NLRP5ENSG00000171487ENST00000390649p.E247Kc.739G>ASubstitution - Missense
NLRP4ENSG00000160505ENST00000587891p.L882Lc.2646G>TSubstitution - coding silent
NLRP9ENSG00000185792ENST00000332836p.R662*c.1984C>TSubstitution - Nonsense
KCNU1ENSG00000215262ENST00000399881p.T1066Kc.3197C>ASubstitution - Missense
CNTN4ENSG00000144619ENST00000418658p.A182Sc.544G>TSubstitution - Missense
ATP6V1C2ENSG00000143882ENST00000272238p.T199Ac.595A>GSubstitution - Missense
DYSFENSG00000135636ENST00000258104p.M1387Vc.4159A>GSubstitution - Missense
ZDHHC1ENSG00000159714ENST00000348579p.V101Ic.301G>ASubstitution - Missense
PDP2ENSG00000172840ENST00000311765p.T472Tc.1416G>ASubstitution - coding silent
SCN10AENSG00000185313ENST00000449082p.L1790Lc.5370G>TSubstitution - coding silent
ANKRD50ENSG00000151458ENST00000504087p.K40Rc.119A>GSubstitution - Missense
KCNAB1ENSG00000169282ENST00000302490p.T42Tc.126G>ASubstitution - coding silent
ZFYVE20ENSG00000131381ENST00000253699p.L20Vc.58C>GSubstitution - Missense
SLC4A5ENSG00000188687ENST00000377634p.G869Sc.2605G>ASubstitution - Missense
ALMS1ENSG00000116127ENST00000264448p.P111_C114delPLTCc.330_341del12Deletion - In frame
KIAA1244ENSG00000112379ENST00000251691p.?c.2129-4T>CUnknown
NM_020340.2p.?c.1916-4T>CUnknown
CDH10ENSG00000040731ENST00000264463p.E327Gc.980A>GSubstitution - Missense
ENST00000331986p.V3245Ac.9734T>CSubstitution - Missense
CDC27ENSG00000004897ENST00000531206p.Q758Qc.2274A>GSubstitution - coding silent
CDC27ENSG00000004897ENST00000066544p.Q752Qc.2256A>GSubstitution - coding silent
SPNS3ENSG00000182557ENST00000355530p.A351Vc.1052C>TSubstitution - Missense
KLHL36ENSG00000135686ENST00000564996p.V541Vc.1623G>ASubstitution - coding silent
USP10ENSG00000103194ENST00000219473p.P246Pc.738C>TSubstitution - coding silent
NPIPB15ENSG00000196436ENST00000429990p.D43Gc.128A>GSubstitution - Missense
MYT1LENSG00000186487ENST00000399161p.G1011Gc.3033A>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.A425_V426insAAc.1276_1277insCAGCTGInsertion - In frame
TTNENSG00000155657ENST00000360870p.A425_V426insAAc.1276_1277insCAGCTGInsertion - In frame
GLUD2ENSG00000182890ENST00000328078p.R107Qc.320G>ASubstitution - Missense
CA8ENSG00000178538ENST00000317995p.N73Dc.217A>GSubstitution - Missense
PENKENSG00000181195ENST00000314922p.K235*c.703A>TSubstitution - Nonsense
TNP1ENSG00000118245ENST00000236979p.S2Lc.5C>TSubstitution - Missense
BARD1ENSG00000138376ENST00000260947p.K596fs*3c.1786_1804del19Deletion - Frameshift
BARD1ENSG00000138376ENST00000260947p.K596fs*3c.1786_1804del19Deletion - Frameshift
PTCH1ENSG00000185920ENST00000331920p.?c.1216-6C>AUnknown
PTCH1ENSG00000185920ENST00000331920p.?c.1216-6C>AUnknown
PTCH1ENSG00000185920ENST00000375274p.?c.1213-6C>AUnknown
PTPDC1ENSG00000158079ENST00000288976p.A762Gc.2285C>GSubstitution - Missense
PTPDC1ENSG00000158079ENST00000375360p.A710Gc.2129C>GSubstitution - Missense
WNK2ENSG00000165238ENST00000297954p.R2255Sc.6765A>TSubstitution - Missense
BICD2ENSG00000185963ENST00000356884p.G565Sc.1693G>ASubstitution - Missense
ACSBG2ENSG00000130377ENST00000252669p.V316Vc.948C>ASubstitution - coding silent
SEPT9ENSG00000184640ENST00000427180p.V191Mc.571G>ASubstitution - Missense
SEPT9ENSG00000184640ENST00000329047p.V285Mc.853G>ASubstitution - Missense
CCDC144AENSG00000170160ENST00000456009p.T863Tc.2589G>CSubstitution - coding silent
ENST00000325618p.H74Nc.220C>ASubstitution - Missense
OTTHUMT00000057874.1p.G70Vc.209G>TSubstitution - Missense
CENPIENSG00000102384ENST00000423383p.V98Vc.294G>TSubstitution - coding silent
ENST00000253720p.R182Rc.546C>ASubstitution - coding silent
SLC7A10ENSG00000130876ENST00000253188p.P157Pc.471C>ASubstitution - coding silent
RHPN2ENSG00000131941ENST00000254260p.A427Ac.1281C>ASubstitution - coding silent
SLC7A9ENSG00000021488ENST00000023064p.A157Ac.471C>TSubstitution - coding silent
ZNF536ENSG00000198597ENST00000355537p.G844Vc.2531G>TSubstitution - Missense
LMNB2ENSG00000176619ENST00000582871p.A547Tc.1639G>ASubstitution - Missense
CDS2ENSG00000101290ENST00000460006p.?c.292-5C>TUnknown
ARFGEF2ENSG00000124198ENST00000371917p.Y1605Yc.4815C>TSubstitution - coding silent
FAM83CENSG00000125998ENST00000374408p.?c.806+5G>AUnknown
ACTL10ENSG00000182584ENST00000330271p.R146fs*39c.435_436ins56Insertion - Frameshift
ACTL10ENSG00000182584ENST00000330271p.R146fs*39c.435_436ins56Insertion - Frameshift
FEZF2ENSG00000153266ENST00000283268p.T405Nc.1214C>ASubstitution - Missense
RLN2ENSG00000107014ENST00000381627p.K159Tc.476A>CSubstitution - Missense
RFX3ENSG00000080298ENST00000358730p.R528Rc.1584T>GSubstitution - coding silent
WSCD1ENSG00000179314ENST00000317744p.R534Hc.1601G>ASubstitution - Missense
CDH17ENSG00000079112ENST00000027335p.?c.2398+5G>TUnknown
ADAM7ENSG00000069206ENST00000175238p.S119Sc.357A>TSubstitution - coding silent
ENPP7ENSG00000182156ENST00000328313p.P108Pc.324C>TSubstitution - coding silent
C17orf97ENSG00000187624ENST00000360127p.E398*c.1192G>TSubstitution - Nonsense
KCNJ12ENSG00000184185ENST00000331718p.I340Tc.1019T>CSubstitution - Missense
MAP2K3ENSG00000034152ENST00000361818p.E312Gc.935A>GSubstitution - Missense
KCNJ12ENSG00000184185ENST00000331718p.R190Rc.568C>ASubstitution - coding silent
RGS9ENSG00000108370ENST00000262406p.L136Lc.406T>CSubstitution - coding silent
ACEENSG00000159640ENST00000290866p.?c.1922-3C>TUnknown
ACEENSG00000159640ENST00000490216p.?c.200-3C>TUnknown
POFUT2ENSG00000186866ENST00000331343p.L166Lc.496C>TSubstitution - coding silent
ILF3ENSG00000129351ENST00000420083p.*691Cc.2073A>TNonstop extension
MOCOSENSG00000075643ENST00000261326p.A281Ac.843G>ASubstitution - coding silent
ZNF396ENSG00000186496ENST00000306346p.?c.1_908-62del5786Unknown
GCENSG00000145321ENST00000504199p.D104Nc.310G>ASubstitution - Missense
GCENSG00000145321ENST00000273951p.D85Nc.253G>ASubstitution - Missense
YTHDC1ENSG00000083896ENST00000344157p.S378Fc.1133C>TSubstitution - Missense
SRGAP3ENSG00000196220ENST00000383836p.T1082Tc.3246G>TSubstitution - coding silent
ANKRD36CENSG00000174501ENST00000456556p.T466Ic.1397C>TSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.K825Kc.2475A>GSubstitution - coding silent
NBPF10ENSG00000163386ENST00000342960p.Y3501*c.10503C>GSubstitution - Nonsense
CLCC1ENSG00000121940ENST00000369970p.L428Lc.1282C>TSubstitution - coding silent
VAV3ENSG00000134215ENST00000370056p.V371Ac.1112T>CSubstitution - Missense
PCNXENSG00000100731ENST00000304743p.R673Lc.2018G>TSubstitution - Missense
SVILENSG00000197321ENST00000355867p.F2187Sc.6560T>CSubstitution - Missense
ZFYVE26ENSG00000072121ENST00000347230p.T2306Tc.6918A>TSubstitution - coding silent
CUBNENSG00000107611ENST00000377833p.S3293Lc.9878C>TSubstitution - Missense
ACSM2AENSG00000183747ENST00000396104p.H37delHc.108_110delCCADeletion - In frame
EME2ENSG00000197774ENST00000307394p.?c.626-6C>TUnknown
XM_372608.1p.?c.672-6C>TUnknown
ERCC4ENSG00000175595ENST00000311895p.R799Rc.2395C>ASubstitution - coding silent
SNX29ENSG00000048471ENST00000306030p.R406Rc.1218C>GSubstitution - coding silent
ENST00000268271p.S370Sc.1110G>ASubstitution - coding silent
SSTR5ENSG00000162009ENST00000397547p.R352Hc.1055G>ASubstitution - Missense
FCF1ENSG00000119616ENST00000341162p.I80Vc.238A>GSubstitution - Missense
ENST00000362029p.V93Vc.279G>ASubstitution - coding silent
SCYL1ENSG00000142186ENST00000270176p.N423Nc.1269C>TSubstitution - coding silent
COL13A1ENSG00000197467ENST00000398969p.G357Gc.1071C>TSubstitution - coding silent
RHOBTB1ENSG00000072422ENST00000357917p.Q643Ec.1927C>GSubstitution - Missense
ADAMTSL4ENSG00000143382ENST00000369038p.R87Qc.260G>ASubstitution - Missense
PRB1ENSG00000251655ENST00000500254p.A175Ec.524C>ASubstitution - Missense
SDSENSG00000135094ENST00000257549p.G171Vc.512G>TSubstitution - Missense
CPT2ENSG00000157184ENST00000371486p.Y628Yc.1884C>TSubstitution - coding silent
CC2D1BENSG00000154222ENST00000371586p.Q287fs*17c.858delADeletion - Frameshift
TOE1ENSG00000132773ENST00000372090p.R107Qc.320G>ASubstitution - Missense
MAP1AENSG00000166963ENST00000300231p.R1954Rc.5862A>GSubstitution - coding silent
SPTBN5ENSG00000137877ENST00000320955p.R1241Rc.3723G>ASubstitution - coding silent
GPA33ENSG00000143167ENST00000367868p.V24Vc.72G>ASubstitution - coding silent
RPTNENSG00000215853ENST00000316073p.Q459*c.1375C>TSubstitution - Nonsense
DENND4BENSG00000198837ENST00000361217p.?c.2942-4G>AUnknown
TSPAN9ENSG00000011105ENST00000011898p.S35Sc.105C>TSubstitution - coding silent
PAPOLAENSG00000090060ENST00000216277p.H234Rc.701A>GSubstitution - Missense
FRMD6ENSG00000139926ENST00000344768p.S246Sc.738G>ASubstitution - coding silent
FRMD6ENSG00000139926ENST00000395718p.S238Sc.714G>ASubstitution - coding silent
OR14I1ENSG00000189181ENST00000342623p.D119Dc.357C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369356p.E18delEc.52_54delGAGDeletion - In frame
PDE4DIPENSG00000178104ENST00000369348p.E155delEc.463_465delGAGDeletion - In frame
PRAMEF2ENSG00000120952ENST00000240189p.S314Yc.941C>ASubstitution - Missense
STX2ENSG00000111450ENST00000261653p.Q118Hc.354G>TSubstitution - Missense
DHX37ENSG00000150990ENST00000308736p.R1042Cc.3124C>TSubstitution - Missense
RPS6KA5ENSG00000100784ENST00000261991p.T755Tc.2265G>ASubstitution - coding silent
TSHRENSG00000165409ENST00000541158p.P668Pc.2004A>CSubstitution - coding silent
WDHD1ENSG00000198554ENST00000360586p.L90Lc.270G>ASubstitution - coding silent
MIER1ENSG00000198160ENST00000401041p.A284Ac.852A>GSubstitution - coding silent
SGIP1ENSG00000118473ENST00000371037p.P161Lc.482C>TSubstitution - Missense
GRTP1ENSG00000139835ENST00000375431p.R209Qc.626G>ASubstitution - Missense
GRTP1ENSG00000139835ENST00000375430p.R209Qc.626G>ASubstitution - Missense
RTL1ENSG00000254656ENST00000534062p.Q578Lc.1733A>TSubstitution - Missense
PTBP2ENSG00000117569ENST00000426398p.S377Sc.1131C>TSubstitution - coding silent
GLCEENSG00000138604ENST00000261858p.A488Sc.1462G>TSubstitution - Missense
C15orf61ENSG00000189227ENST00000342683p.N114Hc.340A>CSubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.S2706Sc.8118G>ASubstitution - coding silent
HERC1ENSG00000103657ENST00000443617p.S2706Sc.8118G>ASubstitution - coding silent
DICER1ENSG00000100697ENST00000343455p.D305Dc.915C>TSubstitution - coding silent
SLC24A4ENSG00000140090ENST00000532405p.?c.1537+1G>AUnknown
SLC24A4ENSG00000140090ENST00000298877p.?c.1486+1G>AUnknown
BAHD1ENSG00000140320ENST00000416165p.R481Tc.1442G>CSubstitution - Missense
ATP12AENSG00000075673ENST00000381946p.G540Gc.1620C>TSubstitution - coding silent
MIPEPENSG00000027001ENST00000382172p.V156Mc.466G>ASubstitution - Missense
SACSENSG00000151835ENST00000382298p.C3231Fc.9692G>TSubstitution - Missense
NM_014363.3p.C3084Fc.9251G>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T4796Rc.14387C>GSubstitution - Missense
ENST00000331986p.T429Rc.1286C>GSubstitution - Missense
DPP10ENSG00000175497ENST00000310323p.D128Yc.382G>TSubstitution - Missense
USE1ENSG00000053501ENST00000263897p.A189Ac.567C>TSubstitution - coding silent
MEIOBENSG00000162039ENST00000325962p.R98Qc.293G>ASubstitution - Missense
MEIOBENSG00000162039ENST00000412554p.R342Qc.1025G>ASubstitution - Missense
PCDHB13ENSG00000187372ENST00000341948p.S534Tc.1600T>ASubstitution - Missense
MROH9ENSG00000117501ENST00000367759p.L456Lc.1368G>TSubstitution - coding silent
ANK1ENSG00000029534ENST00000314214p.D56Dc.168C>TSubstitution - coding silent
FAM179AENSG00000189350ENST00000379558p.A628Vc.1883C>TSubstitution - Missense
NM_003242p.H328Hc.984C>TSubstitution - coding silent
ENST00000333854p.R128Rc.384G>ASubstitution - coding silent
ENST00000375089p.V916Ec.2747T>ASubstitution - Missense
CLDN10ENSG00000134873ENST00000376873p.K29Kc.87A>GSubstitution - coding silent
ITIH2ENSG00000151655ENST00000358415p.V274Vc.822G>ASubstitution - coding silent
HSPG2ENSG00000142798ENST00000374695p.E4228Kc.12682G>ASubstitution - Missense
ITGB1ENSG00000150093ENST00000396033p.N492Nc.1476T>CSubstitution - coding silent
ENST00000349637p.T3661Mc.10982C>TSubstitution - Missense
SLIT1ENSG00000187122ENST00000266058p.W685Cc.2055G>CSubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.S761Lc.2282C>TSubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.S761Lc.2282C>TSubstitution - Missense
LGI1ENSG00000108231ENST00000371418p.S73Sc.219C>GSubstitution - coding silent
MYOFENSG00000138119ENST00000359263p.R1021Qc.3062G>ASubstitution - Missense
ENST00000371829p.S102Rc.306C>ASubstitution - Missense
XPOTENSG00000184575ENST00000332707p.V446Vc.1338T>CSubstitution - coding silent
METTL21BENSG00000123427ENST00000300209p.I215Sc.644T>GSubstitution - Missense
PRCCENSG00000143294ENST00000271526p.P280_E281insLPc.832_833insCCCTCCInsertion - In frame
C1orf61ENSG00000125462ENST00000368242p.P48fs*31c.140_141insCInsertion - Frameshift
RHBGENSG00000132677ENST00000368246p.P16Pc.48C>ASubstitution - coding silent
WNT5BENSG00000111186ENST00000397196p.?c.80+8A>GUnknown
SMCO3ENSG00000179256ENST00000316048p.Q71Rc.212A>GSubstitution - Missense
DDX51ENSG00000185163ENST00000397333p.F301Cc.902T>GSubstitution - Missense
SIPA1L2ENSG00000116991ENST00000366630p.M45Vc.133A>GSubstitution - Missense
A2ML1ENSG00000166535ENST00000299698p.S871Nc.2612G>ASubstitution - Missense
ENST00000307147p.D213Hc.637G>CSubstitution - Missense
PAK1ENSG00000149269ENST00000278568p.S259Nc.776G>ASubstitution - Missense
PAK1ENSG00000149269ENST00000356341p.S259Nc.776G>ASubstitution - Missense
AKAP13ENSG00000170776ENST00000394518p.S2533Sc.7599C>TSubstitution - coding silent
DHRS2ENSG00000100867ENST00000250383p.E247Kc.739G>ASubstitution - Missense
MYH7ENSG00000092054ENST00000355349p.D1665Ac.4994A>CSubstitution - Missense
EDDM3AENSG00000181562ENST00000326842p.M67Tc.200T>CSubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.G1569Rc.4705G>ASubstitution - Missense
ITGBL1ENSG00000198542ENST00000376180p.T156Ic.467C>TSubstitution - Missense
PCCAENSG00000175198ENST00000376285p.P215Pc.645T>GSubstitution - coding silent
LRP5ENSG00000162337ENST00000294304p.L1149Lc.3447G>ASubstitution - coding silent
NXF1ENSG00000162231ENST00000294172p.R105Rc.315A>GSubstitution - coding silent
PATL1ENSG00000166889ENST00000300146p.I125Tc.374T>CSubstitution - Missense
PATL1ENSG00000166889ENST00000300146p.I125Tc.374T>CSubstitution - Missense
GNPTABENSG00000111670ENST00000299314p.E1197Ec.3591G>ASubstitution - coding silent
DNMBPENSG00000107554ENST00000324109p.V1490Ic.4468G>ASubstitution - Missense
GFRA1ENSG00000151892ENST00000439649p.K159Ec.475A>GSubstitution - Missense
GFRA1ENSG00000151892ENST00000369236p.K154Ec.460A>GSubstitution - Missense
WDR37ENSG00000047056ENST00000358220p.V316Ic.946G>ASubstitution - Missense
KATNAL1ENSG00000102781ENST00000380617p.F234Fc.702C>TSubstitution - coding silent
GSX1ENSG00000169840ENST00000302945p.M170Ic.510G>ASubstitution - Missense
C12orf40ENSG00000180116ENST00000324616p.E409Kc.1225G>ASubstitution - Missense
THRAP3ENSG00000054118ENST00000354618p.R718Rc.2154C>TSubstitution - coding silent
LAMC2ENSG00000058085ENST00000264144p.S693Nc.2078G>ASubstitution - Missense
SEC16BENSG00000120341ENST00000308284p.T515Kc.1544C>ASubstitution - Missense
PRMT3ENSG00000185238ENST00000331079p.R180Hc.539G>ASubstitution - Missense
CWF19L2ENSG00000152404ENST00000282251p.?c.1741-8T>CUnknown
ENST00000282251_v68p.?c.2203-8T>CUnknown
USP2ENSG00000036672ENST00000260187p.Y544Fc.1631A>TSubstitution - Missense
USP2ENSG00000036672ENST00000525735p.Y335Fc.1004A>TSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.L2350Mc.7048C>ASubstitution - Missense


COSMIC

1 mutations reported
1 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
NF1ENSG00000196712ENST00000358273p.?c.?_?del?Unknown20655465