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

CAL-12T - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1353 mutations reported
389 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
TSC2ENSG00000103197ENST00000219476p.L156Lc.468G>ASubstitution - coding silent
TSC2ENSG00000103197ENST00000219476p.L156Lc.468G>ASubstitution - coding silent
TTNENSG00000155657ENST00000360870p.P6Pc.18G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.P6Pc.18G>ASubstitution - coding silent
RPH3ALENSG00000181031ENST00000331302p.R85Wc.253C>TSubstitution - Missense
BOLLENSG00000152430ENST00000321801p.G6Rc.16G>ASubstitution - Missense
ENST00000417177p.P1631Qc.4892C>ASubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.G1143Rc.3427G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.C135Fc.404G>TSubstitution - Missense
OR5B3ENSG00000172769ENST00000309403p.S237Yc.710C>ASubstitution - Missense
ENST00000333815p.G759Vc.2276G>TSubstitution - Missense
EXOC3L4ENSG00000205436ENST00000380069p.L558Lc.1674C>TSubstitution - coding silent
LRRC27ENSG00000148814ENST00000368615p.H175Pc.524A>CSubstitution - Missense
LRRC27ENSG00000148814ENST00000392638p.H175Pc.524A>CSubstitution - Missense
ENST00000368577p.?c.1375-8C>AUnknown
TENM4ENSG00000149256ENST00000278550p.S1307Sc.3921C>ASubstitution - coding silent
TENM4ENSG00000149256ENST00000278550p.S1307Sc.3921C>ASubstitution - coding silent
PPFIBP2ENSG00000166387ENST00000299492p.L170Hc.509T>ASubstitution - Missense
RHCGENSG00000140519ENST00000268122p.G73Vc.218G>TSubstitution - Missense
AP3B2ENSG00000103723ENST00000261722p.L109Mc.325C>ASubstitution - Missense
ADAMTSL3ENSG00000156218ENST00000286744p.L899Ic.2695C>ASubstitution - Missense
NTRK3ENSG00000140538ENST00000360948p.S165Nc.494G>ASubstitution - Missense
NTRK3ENSG00000140538ENST00000317501p.S165Nc.494G>ASubstitution - Missense
GALNT6ENSG00000139629ENST00000356317p.R246Qc.737G>ASubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.M412Ic.1236G>TSubstitution - Missense
ACVR1BENSG00000135503ENST00000541224p.R223Lc.668G>TSubstitution - Missense
NM_020328p.R223Lc.668G>TSubstitution - Missense
ABCC9ENSG00000069431ENST00000261201p.D928Dc.2784C>TSubstitution - coding silent
PFKMENSG00000152556ENST00000359794p.G54Vc.161G>TSubstitution - Missense
SLCO1B3ENSG00000111700ENST00000381545p.A684Dc.2051C>ASubstitution - Missense
MTRENSG00000116984ENST00000366577p.A873Sc.2617G>TSubstitution - Missense
SIPA1L2ENSG00000116991ENST00000366630p.D503Hc.1507G>CSubstitution - Missense
MGAT4CENSG00000182050ENST00000332156p.A161Ec.482C>ASubstitution - Missense
NAV3ENSG00000067798ENST00000397909p.S1728*c.5183C>GSubstitution - Nonsense
NM_014903.3p.S1728*c.5183C>GSubstitution - Nonsense
NM_014903.3p.L2023Fc.6069G>TSubstitution - Missense
SRGAP1ENSG00000196935ENST00000355086p.G468Rc.1402G>ASubstitution - Missense
GAPDHENSG00000111640ENST00000229239p.A297Gc.890C>GSubstitution - Missense
OS9ENSG00000135506ENST00000315970p.P21Sc.61C>TSubstitution - Missense
OR6P1ENSG00000186440ENST00000334632p.W72Rc.214T>CSubstitution - Missense
MNDAENSG00000163563ENST00000368141p.G13Rc.37G>ASubstitution - Missense
FCRL1ENSG00000163534ENST00000368176p.T306Tc.918C>ASubstitution - coding silent
MADDENSG00000110514ENST00000311027p.D1302Yc.3904G>TSubstitution - Missense
PI4K2AENSG00000155252ENST00000370631p.G180Gc.540C>TSubstitution - coding silent
PI4K2AENSG00000155252ENST00000555577p.G150Gc.450C>TSubstitution - coding silent
SLC35G1ENSG00000176273ENST00000371408p.?c.179-5A>TUnknown
CYP2C9ENSG00000138109ENST00000260682p.?c.819+10A>TUnknown
SLC16A12ENSG00000152779ENST00000341233p.R401Rc.1203G>TSubstitution - coding silent
GPRIN2ENSG00000204175ENST00000374317p.Y394Hc.1180T>CSubstitution - Missense
NPY4RENSG00000204174ENST00000395716p.T215Nc.644C>ASubstitution - Missense
CXCL12ENSG00000107562ENST00000374426p.R107Qc.320G>ASubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.T518Nc.1553C>ASubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.N959Kc.2877C>GSubstitution - Missense
ABCC4ENSG00000125257ENST00000376887p.T1237Pc.3709A>CSubstitution - Missense
ABCC4ENSG00000125257ENST00000376887p.T1237Pc.3709A>CSubstitution - Missense
LMO7ENSG00000136153ENST00000357063p.G224Sc.670G>ASubstitution - Missense
BTBD11ENSG00000151136ENST00000280758p.C38Sc.113G>CSubstitution - Missense
RB1ENSG00000139687ENST00000267163p.T909_R910delTRc.2722_2727delCGAACADeletion - In frame
CCDC33ENSG00000140481ENST00000398814p.A286Vc.857C>TSubstitution - Missense
LACRTENSG00000135413ENST00000257867p.A11Vc.32C>TSubstitution - Missense
ENST00000378129p.A278Tc.832G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.G3269Gc.9807G>TSubstitution - coding silent
CCDC24ENSG00000159214ENST00000372318p.G142Sc.424G>ASubstitution - Missense
CCDC116ENSG00000161180ENST00000292779p.R174Wc.520C>TSubstitution - Missense
NXPE3ENSG00000144815ENST00000273347p.R510Wc.1528C>TSubstitution - Missense
WHSC1L1ENSG00000147548ENST00000317025p.Y887Cc.2660A>GSubstitution - Missense
SPAG6ENSG00000077327ENST00000376624p.R372Lc.1115G>TSubstitution - Missense
JMJD1CENSG00000171988ENST00000399262p.H2302Yc.6904C>TSubstitution - Missense
JMJD1CENSG00000171988ENST00000402544p.H2065Yc.6193C>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000514591p.M828Ic.2484G>ASubstitution - Missense
CHRM3ENSG00000133019ENST00000255380p.V211Fc.631G>TSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.C135Fc.404G>TSubstitution - Missense
ENST00000545858p.C42Fc.125G>TSubstitution - Missense
FURINENSG00000140564ENST00000268171p.T314Tc.942G>CSubstitution - coding silent
SPAG6ENSG00000077327ENST00000376624p.Q203Kc.607C>ASubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.?c.3085-3C>AUnknown
TRDMT1ENSG00000107614ENST00000377799p.R95Tc.284G>CSubstitution - Missense
UMODENSG00000169344ENST00000302509p.H529Qc.1587C>GSubstitution - Missense
UMODENSG00000169344ENST00000424589p.H562Qc.1686C>GSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.S2226Sc.6678G>ASubstitution - coding silent
EME2ENSG00000197774ENST00000307394p.G320Sc.958G>ASubstitution - Missense
LHX9ENSG00000143355ENST00000367387p.A318Sc.952G>TSubstitution - Missense
PRKCZENSG00000067606ENST00000378567p.?c.283+10G>AUnknown
CFHR5ENSG00000134389ENST00000256785p.T317Ic.950C>TSubstitution - Missense
CFHR5ENSG00000134389ENST00000367414p.T470Ac.1408A>GSubstitution - Missense
ALDH4A1ENSG00000159423ENST00000375341p.S454Cc.1361C>GSubstitution - Missense
ALDH4A1ENSG00000159423ENST00000290597p.S454Cc.1361C>GSubstitution - Missense
LRIG2ENSG00000198799ENST00000361127p.L109Lc.325C>TSubstitution - coding silent
MAGI3ENSG00000081026ENST00000307546p.?c.1171+1G>TUnknown
KCNA4ENSG00000182255ENST00000328224p.H568Qc.1704C>ASubstitution - Missense
MPPED2ENSG00000066382ENST00000358117p.D262Ec.786C>ASubstitution - Missense
DCDC1ENSG00000170959ENST00000339794p.A569Sc.1705G>TSubstitution - Missense
ENST00000429306p.A177Sc.529G>TSubstitution - Missense
NM_000926.2p.P555Qc.1664C>ASubstitution - Missense
UBE4AENSG00000110344ENST00000431736p.?c.296-3C>TUnknown
KCNC2ENSG00000166006ENST00000341669p.V302Gc.905T>GSubstitution - Missense
KCNC2ENSG00000166006ENST00000298972p.V302Gc.905T>GSubstitution - Missense
ENST00000316851_v65p.A539Ec.1616C>ASubstitution - Missense
NCAM1ENSG00000149294ENST00000401611p.A548Ec.1643C>ASubstitution - Missense
PTPRBENSG00000127329ENST00000261266p.D1271Yc.3811G>TSubstitution - Missense
PADI1ENSG00000142623ENST00000375471p.?c.1054-9C>AUnknown
NM_032738.3p.G291Gc.873G>TSubstitution - coding silent
TRPM1ENSG00000134160ENST00000397795p.L712Fc.2134C>TSubstitution - Missense
CHRNA7ENSG00000175344ENST00000437966p.?c.721-5C>TUnknown
GOLGA8IENSG00000153666ENST00000450802p.L236Lc.708A>GSubstitution - coding silent
ENST00000450802_v68p.L236Lc.708A>GSubstitution - coding silent
C1orf94ENSG00000142698ENST00000488417p.P543Tc.1627C>ASubstitution - Missense
ZMYM1ENSG00000197056ENST00000373330p.D951Nc.2851G>ASubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.V3572Mc.10714G>ASubstitution - Missense
EPB41ENSG00000159023ENST00000343067p.V807Vc.2421A>TSubstitution - coding silent
DCLK1ENSG00000133083ENST00000255448p.V195Lc.583G>TSubstitution - Missense
ENST00000381026_v68p.S42Sc.126C>TSubstitution - coding silent
N4BP2L1ENSG00000139597ENST00000380130p.N109Kc.327T>GSubstitution - Missense
RNF17ENSG00000132972ENST00000255324p.P690Ac.2068C>GSubstitution - Missense
ANO6ENSG00000177119ENST00000320560p.Q656Hc.1968G>CSubstitution - Missense
ARID2ENSG00000189079ENST00000334344p.G1291fs*4c.3870delGDeletion - Frameshift
KIF21AENSG00000139116ENST00000361961p.A1047Dc.3140C>ASubstitution - Missense
KIF21AENSG00000139116ENST00000395670p.A1060Dc.3179C>ASubstitution - Missense
CNTN1ENSG00000018236ENST00000551295p.?c.62-3T>CUnknown
CNTN1ENSG00000018236ENST00000551295p.P504Hc.1511C>ASubstitution - Missense
STAB2ENSG00000136011ENST00000388887p.G817Cc.2449G>TSubstitution - Missense
TXNRD1ENSG00000198431ENST00000378070p.V11Vc.33C>TSubstitution - coding silent
UTP20ENSG00000120800ENST00000261637p.H748Yc.2242C>TSubstitution - Missense
FGFR2ENSG00000066468ENST00000351936p.G89Vc.266G>TSubstitution - Missense
TACC2ENSG00000138162ENST00000453444p.A152Vc.455C>TSubstitution - Missense
ZNF695ENSG00000197472ENST00000339986p.?c.166+6G>TUnknown
ZNF695ENSG00000197472ENST00000487338p.?c.166+6G>TUnknown
SMC3ENSG00000108055ENST00000361804p.E205*c.613G>TSubstitution - Nonsense
SHOC2ENSG00000108061ENST00000369452p.L440Ic.1318C>ASubstitution - Missense
ENST00000341258p.T362Tc.1086C>ASubstitution - coding silent
WDR64ENSG00000162843ENST00000366552p.T642Tc.1926C>ASubstitution - coding silent
BIVMENSG00000134897ENST00000257336p.T116Tc.348A>TSubstitution - coding silent
OR5A2ENSG00000172324ENST00000302040p.I217Ic.651C>TSubstitution - coding silent
MS4A14ENSG00000166928ENST00000300187p.P83Tc.247C>ASubstitution - Missense
NFATC4ENSG00000100968ENST00000413692p.?c.1386-5C>AUnknown
NFATC4ENSG00000100968ENST00000250373p.?c.1197-5C>AUnknown
OR10Q1ENSG00000180475ENST00000316770p.S247Pc.739T>CSubstitution - Missense
RTL1ENSG00000254656ENST00000534062p.P84fs*5c.251delCDeletion - Frameshift
EML1ENSG00000066629ENST00000334192p.V707Mc.2119G>ASubstitution - Missense
GLMNENSG00000174842ENST00000370360p.E17Qc.49G>CSubstitution - Missense
MTF2ENSG00000143033ENST00000370298p.S426*c.1277C>GSubstitution - Nonsense
MTF2ENSG00000143033ENST00000370298p.S488Fc.1463C>TSubstitution - Missense
GBP3ENSG00000117226ENST00000370481p.R242Hc.725G>ASubstitution - Missense
XM_170754.4p.I517Tc.1550T>CSubstitution - Missense
RPS6KA5ENSG00000100784ENST00000261991p.A590Vc.1769C>TSubstitution - Missense
TC2NENSG00000165929ENST00000340892p.T216Tc.648T>GSubstitution - coding silent
TC2NENSG00000165929ENST00000360594p.T216Tc.648T>GSubstitution - coding silent
PCNXL4ENSG00000126773ENST00000406854p.Y136fs*1c.406_409delTATGDeletion - Frameshift
TMEM260ENSG00000070269ENST00000261556p.M594Tc.1781T>CSubstitution - Missense
WDR63ENSG00000162643ENST00000294664p.T255Rc.764C>GSubstitution - Missense
LEPRENSG00000116678ENST00000344610p.W132Cc.396G>TSubstitution - Missense
LEPRENSG00000116678ENST00000349533p.I479fs*41c.1435delADeletion - Frameshift
LEPRENSG00000116678ENST00000344610p.I479fs*41c.1435delADeletion - Frameshift
LEPRENSG00000116678ENST00000371060p.I479fs*41c.1435delADeletion - Frameshift
C8AENSG00000157131ENST00000361249p.H269Nc.805C>ASubstitution - Missense
OR2T6ENSG00000198104ENST00000355728p.W142Rc.424T>ASubstitution - Missense
GCSAMLENSG00000169224ENST00000366490p.G78Cc.232G>TSubstitution - Missense
PRDM2ENSG00000116731ENST00000235372p.E77Vc.230A>TSubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.K1224Nc.3672G>TSubstitution - Missense
EIF2B1ENSG00000111361ENST00000424014p.L291fs*1c.871_893del23Deletion - Frameshift
PRSS23ENSG00000150687ENST00000280258p.V154Vc.462G>TSubstitution - coding silent
LIPCENSG00000166035ENST00000299022p.M464Ic.1392G>ASubstitution - Missense
DSTYKENSG00000133059ENST00000367162p.R709Qc.2126G>ASubstitution - Missense
MYBPHENSG00000133055ENST00000255416p.P270Hc.809C>ASubstitution - Missense
KISS1ENSG00000170498ENST00000367194p.L11Hc.32T>ASubstitution - Missense
ARHGEF2ENSG00000116584ENST00000313695p.G903Ec.2708G>ASubstitution - Missense
DDX11ENSG00000013573ENST00000407793p.?c.2053-3_2053-2ins12Unknown
DDX11ENSG00000013573ENST00000542838p.?c.2053-3_2053-2ins12Unknown
LRRK1ENSG00000154237ENST00000388948p.A184Sc.550G>TSubstitution - Missense
SU_LRRK1p.A157Sc.469G>TSubstitution - Missense
LRRK1ENSG00000154237ENST00000284395p.A181Sc.541G>TSubstitution - Missense
LRRK1ENSG00000154237ENST00000388948p.?c.1609+9G>TUnknown
SU_LRRK1p.?c.1528+9G>TUnknown
L2HGDHENSG00000087299ENST00000261699p.P406Pc.1218G>TSubstitution - coding silent
CDCP2ENSG00000157211ENST00000371330p.P330Tc.988C>ASubstitution - Missense
FBN1ENSG00000166147ENST00000316623p.R2680Lc.8039G>TSubstitution - Missense
ILDR2ENSG00000143195ENST00000271417p.G155Rc.463G>ASubstitution - Missense
SELENBP1ENSG00000143416ENST00000368868p.A262Vc.785C>TSubstitution - Missense
UBE2J2ENSG00000160087ENST00000400930p.L145Lc.435G>TSubstitution - coding silent
TPCN1ENSG00000186815ENST00000335509p.N84Nc.252C>TSubstitution - coding silent
RSPO1ENSG00000169218ENST00000401068p.V11Fc.31G>TSubstitution - Missense
APBB1ENSG00000166313ENST00000299402p.S205Cc.613A>TSubstitution - Missense
APBB1ENSG00000166313ENST00000299402p.G55Vc.164G>TSubstitution - Missense
ENST00000359762p.A141Pc.421G>CSubstitution - Missense
SFMBT2ENSG00000198879ENST00000361972p.E19*c.55G>TSubstitution - Nonsense
SFMBT2ENSG00000198879ENST00000379713p.E19*c.55G>TSubstitution - Nonsense
AIFM2ENSG00000042286ENST00000307864p.V136Lc.406G>TSubstitution - Missense
SFMBT2ENSG00000198879ENST00000361972p.C636Fc.1907G>TSubstitution - Missense
TET1ENSG00000138336ENST00000373644p.P470Pc.1410T>ASubstitution - coding silent
PFKFB3ENSG00000170525ENST00000379775p.A326Sc.976G>TSubstitution - Missense
PFKFB3ENSG00000170525ENST00000379785p.A326Sc.976G>TSubstitution - Missense
TMEM26ENSG00000196932ENST00000399298p.V311Lc.931G>CSubstitution - Missense
EGR2ENSG00000122877ENST00000242480p.S138Sc.414T>CSubstitution - coding silent
PCDH15ENSG00000150275ENST00000361849p.?c.475-1G>TUnknown
PCDH15ENSG00000150275ENST00000395438p.?c.475-1G>TUnknown
ENST00000417177p.?c.490-1G>TUnknown
ERCC6ENSG00000225830ENST00000355832p.G108Ac.323G>CSubstitution - Missense
ERCC6ENSG00000225830ENST00000355832p.D76Vc.227A>TSubstitution - Missense
C10orf53ENSG00000178645ENST00000374112p.W138*c.414G>ASubstitution - Nonsense
SGMS1ENSG00000198964ENST00000361781p.G110Gc.330G>TSubstitution - coding silent
ENST00000426033p.L1646Lc.4938G>ASubstitution - coding silent
SEZ6ENSG00000063015ENST00000317338p.A172Ac.516C>ASubstitution - coding silent
EFCAB3ENSG00000172421ENST00000450662p.T387Nc.1160C>ASubstitution - Missense
EFCAB3ENSG00000172421ENST00000305286p.T335Nc.1004C>ASubstitution - Missense
SLC26A7ENSG00000147606ENST00000276609p.M483Ic.1449G>CSubstitution - Missense
PDLIM2ENSG00000120913ENST00000308354p.K474Nc.1422G>TSubstitution - Missense
FLNBENSG00000136068ENST00000490882p.V467Ic.1399G>ASubstitution - Missense
ALDH1B1ENSG00000137124ENST00000377698p.L89Lc.267G>CSubstitution - coding silent
ENSG00000204814ENST00000377548p.Q28Kc.82C>ASubstitution - Missense
SPAG8ENSG00000137098ENST00000396638p.R256Rc.766C>ASubstitution - coding silent
CCINENSG00000185972ENST00000335119p.V14Lc.40G>TSubstitution - Missense
ZCCHC7ENSG00000147905ENST00000336755p.N199fs*10c.593delADeletion - Frameshift
PLXNA4ENSG00000221866ENST00000321063p.E699fs*18c.2094delCDeletion - Frameshift
PLXNA4ENSG00000221866ENST00000321063p.E699fs*18c.2094delCDeletion - Frameshift
KCNV2ENSG00000168263ENST00000382082p.G34Sc.100G>ASubstitution - Missense
CCDC136ENSG00000128596ENST00000297788p.P31Qc.92C>ASubstitution - Missense
SMOENSG00000128602ENST00000249373p.L437Lc.1311G>CSubstitution - coding silent
CPA2ENSG00000158516ENST00000222481p.V290Vc.870G>TSubstitution - coding silent
LMOD2ENSG00000170807ENST00000458573p.L329Lc.987G>TSubstitution - coding silent
GRM8ENSG00000179603ENST00000339582p.Y546Yc.1638C>TSubstitution - coding silent
ZNF831ENSG00000124203ENST00000371030p.G1213Vc.3638G>TSubstitution - Missense
SYCP2ENSG00000196074ENST00000357552p.M993Ic.2979G>CSubstitution - Missense
CASS4ENSG00000087589ENST00000360314p.P759Tc.2275C>ASubstitution - Missense
KIAA1755ENSG00000149633ENST00000279024p.V376Ic.1126G>ASubstitution - Missense
RALGAPBENSG00000170471ENST00000397040p.T59Ic.176C>TSubstitution - Missense
MYH7BENSG00000078814ENST00000262873p.Q1775*c.5323C>TSubstitution - Nonsense
SIGLEC8ENSG00000105366ENST00000321424p.T223Nc.668C>ASubstitution - Missense
ASPDHENSG00000204653ENST00000389208p.E112Kc.334G>ASubstitution - Missense
ANKRD27ENSG00000105186ENST00000306065p.G755Cc.2263G>TSubstitution - Missense
ENST00000221482p.Y738*c.2214C>GSubstitution - Nonsense
ZNF729ENSG00000196350ENST00000357491p.H590fs*6c.1769_1770delATDeletion - Frameshift
ZNF208ENSG00000160321ENST00000397126p.E429Kc.1285G>ASubstitution - Missense
DOT1LENSG00000104885ENST00000398665p.Y738*c.2214C>GSubstitution - Nonsense
DNAH9ENSG00000007174ENST00000262442p.C1993Yc.5978G>ASubstitution - Missense
SLC43A2ENSG00000167703ENST00000301335p.P532Pc.1596G>ASubstitution - coding silent
H2BFWTENSG00000123569ENST00000217926p.R86Cc.256C>TSubstitution - Missense
PCMTD1ENSG00000168300ENST00000360540p.F290Ic.868T>ASubstitution - Missense
ABCA12ENSG00000144452ENST00000272895p.N360Nc.1080C>TSubstitution - coding silent
SMARCAL1ENSG00000138375ENST00000357276p.L590Lc.1770C>GSubstitution - coding silent
MYT1LENSG00000186487ENST00000399161p.?c.2859-7C>AUnknown
FSIP2ENSG00000188738ENST00000343098p.A1051Ac.3153C>GSubstitution - coding silent
FSIP2ENSG00000188738ENST00000343098p.A1051Ac.3153C>GSubstitution - coding silent
ZSWIM2ENSG00000163012ENST00000295131p.W81Cc.243G>TSubstitution - Missense
TFPIENSG00000003436ENST00000392365p.V292Lc.874G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.T1051Ac.3151A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.T1005Ac.3013A>GSubstitution - Missense
TTNENSG00000155657ENST00000360870p.T1051Ac.3151A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.P6Pc.18G>ASubstitution - coding silent
PDE1AENSG00000115252ENST00000346717p.Q28Hc.84G>TSubstitution - Missense
ZNF561ENSG00000171469ENST00000302851p.G183Vc.548G>TSubstitution - Missense
ZNF812ENSG00000224689ENST00000457674p.I274Ic.822A>TSubstitution - coding silent
RBFOX1ENSG00000078328ENST00000550418p.P204Hc.611C>ASubstitution - Missense
CNTNAP4ENSG00000152910ENST00000478060p.G857Cc.2569G>TSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000307431p.G929Cc.2785G>TSubstitution - Missense
CLEC3AENSG00000166509ENST00000575655p.C183*c.549T>ASubstitution - Nonsense
FYBENSG00000082074ENST00000351578p.A340Ac.1020C>ASubstitution - coding silent
FYBENSG00000082074ENST00000351578p.A340Ac.1020C>ASubstitution - coding silent
PRLRENSG00000113494ENST00000382002p.D610Hc.1828G>CSubstitution - Missense
PRLRENSG00000113494ENST00000382002p.D518Nc.1552G>ASubstitution - Missense
SPEF2ENSG00000152582ENST00000356031p.V15Vc.45G>TSubstitution - coding silent
NIPBLENSG00000164190ENST00000282516p.?c.5808+6A>TUnknown
EIF2AK4ENSG00000128829ENST00000263791p.D507Nc.1519G>ASubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.R336Lc.1007G>TSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.?c.1922+5G>TUnknown
RYR3ENSG00000198838ENST00000389232p.?c.1922+6G>TUnknown
NM_003319p.L10907Lc.32721G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.P16761Pc.50283T>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.R22541Gc.67621A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.I26346Fc.79036A>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.I20041Fc.60121A>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.G19182Vc.57545G>TSubstitution - Missense
ENST00000356127p.G25552Vc.76655G>TSubstitution - Missense
PDE11AENSG00000128655ENST00000286063p.G89Gc.267T>CSubstitution - coding silent
CDCA7ENSG00000144354ENST00000306721p.R254Lc.761G>TSubstitution - Missense
HIRAENSG00000100084ENST00000263208p.A844Ac.2532G>CSubstitution - coding silent
POTEHENSG00000198062ENST00000343518p.M464Ic.1392G>ASubstitution - Missense
MICAL3ENSG00000243156ENST00000444520p.E576Dc.1728G>TSubstitution - Missense
MICAL3ENSG00000243156ENST00000207726p.E576Dc.1728G>TSubstitution - Missense
PCNTENSG00000160299ENST00000359568p.E842fs*15c.2522delGDeletion - Frameshift
BRSK1ENSG00000160469ENST00000309383p.K703Rc.2108A>GSubstitution - Missense
FCARENSG00000186431ENST00000355524p.R230Cc.688C>TSubstitution - Missense
RNMTENSG00000101654ENST00000383314p.L84Vc.250C>GSubstitution - Missense
ANKRD30BENSG00000180777ENST00000358984p.L525Ic.1573C>ASubstitution - Missense
ANKRD30BENSG00000180777ENST00000447268p.L525Ic.1573C>ASubstitution - Missense
GLP2RENSG00000065325ENST00000262441p.?c.987-6C>GUnknown
GAS7ENSG00000007237ENST00000432992p.E301*c.901G>TSubstitution - Nonsense
EPB41L3ENSG00000082397ENST00000341928p.A421Ac.1263G>TSubstitution - coding silent
EPB41L3ENSG00000082397ENST00000341928p.P395Sc.1183C>TSubstitution - Missense
WDR7ENSG00000091157ENST00000254442p.S658Pc.1972T>CSubstitution - Missense
CRISPLD1ENSG00000121005ENST00000262207p.Y85Nc.253T>ASubstitution - Missense
ENST00000356067p.Y154*c.462C>GSubstitution - Nonsense
BOP1ENSG00000170727ENST00000307404p.E82Dc.246G>TSubstitution - Missense
PUF60ENSG00000179950ENST00000526683p.A24_A25delAAc.69_74delGGCGGCDeletion - In frame
CYP11B1ENSG00000160882ENST00000292427p.R374Lc.1121G>TSubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.?c.6415-7A>GUnknown
TRRAPENSG00000196367ENST00000359863p.?c.6469-7A>GUnknown
COL1A2ENSG00000164692ENST00000297268p.M1250Ic.3750G>TSubstitution - Missense
TRPV6ENSG00000165125ENST00000359396p.A52Sc.154G>TSubstitution - Missense
HIST1H1DENSG00000124575ENST00000244534p.A172Ac.516C>TSubstitution - coding silent
BTN3A2ENSG00000186470ENST00000527422p.A238Sc.712G>TSubstitution - Missense
NUP205ENSG00000155561ENST00000285968p.E176Kc.526G>ASubstitution - Missense
CHRM2ENSG00000181072ENST00000320658p.T56Nc.167C>ASubstitution - Missense
CHRM2ENSG00000181072ENST00000320658p.A147Sc.439G>TSubstitution - Missense
ITSN1ENSG00000205726ENST00000381318p.R226Sc.678G>TSubstitution - Missense
CBR1ENSG00000159228ENST00000290349p.Y253Hc.757T>CSubstitution - Missense
TTC3ENSG00000182670ENST00000354749p.M131Ic.393G>TSubstitution - Missense
KRTAP19-7ENSG00000244362ENST00000334849p.G17*c.49G>TSubstitution - Nonsense
TIAM1ENSG00000156299ENST00000286827p.R1330Ic.3989G>TSubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.R1330Ic.3989G>TSubstitution - Missense
KRTAP9-4ENSG00000241595ENST00000334109p.R131Sc.391C>ASubstitution - Missense
TMPRSS15ENSG00000154646ENST00000284885p.N381Kc.1143T>GSubstitution - Missense
APPENSG00000142192ENST00000346798p.D739Vc.2216A>TSubstitution - Missense
APPENSG00000142192ENST00000346798p.A479Sc.1435G>TSubstitution - Missense
KRTAP4-7ENSG00000240871ENST00000391417p.C15fs*1c.45delCDeletion - Frameshift
ENST00000377734p.C15fs*1c.45delCDeletion - Frameshift
DDX52ENSG00000141141ENST00000349699p.G103Vc.308G>TSubstitution - Missense
GNAO1ENSG00000087258ENST00000262494p.R349Qc.1046G>ASubstitution - Missense
ENAMENSG00000132464ENST00000396073p.K437Mc.1310A>TSubstitution - Missense
NM_032217.3p.A2153Gc.6458C>GSubstitution - Missense
SULT1E1ENSG00000109193ENST00000226444p.I199Ic.597C>ASubstitution - coding silent
ROBO2ENSG00000185008ENST00000461745p.P1106Pc.3318A>CSubstitution - coding silent
ROBO2ENSG00000185008ENST00000487694p.P1122Pc.3366A>CSubstitution - coding silent
ENST00000434864p.C161Wc.483C>GSubstitution - Missense
TMPRSS2ENSG00000184012ENST00000398585p.Q313Rc.938A>GSubstitution - Missense
SETBP1ENSG00000152217ENST00000282030p.P756Lc.2267C>TSubstitution - Missense
DSG2ENSG00000046604ENST00000261590p.M1069Vc.3205A>GSubstitution - Missense
LAMA3ENSG00000053747ENST00000313654p.C402fs*1c.1204_1205delTGDeletion - Frameshift
ENDOVENSG00000173818ENST00000323854p.G210Rc.628G>CSubstitution - Missense
ENDOVENSG00000173818ENST00000518137p.G255Rc.763G>CSubstitution - Missense
FAM65AENSG00000039523ENST00000042381p.V1057fs*7c.3169_3190del22Deletion - Frameshift
CDH8ENSG00000150394ENST00000577390p.V157Fc.469G>TSubstitution - Missense
CDH5ENSG00000179776ENST00000341529p.S634Rc.1902C>ASubstitution - Missense
ENST00000290858_v70p.R23Rc.69C>TSubstitution - coding silent
SEMA6AENSG00000092421ENST00000343348p.R772Sc.2314C>ASubstitution - Missense
GPR97ENSG00000182885ENST00000333493p.L141Lc.423G>CSubstitution - coding silent
CAPN15ENSG00000103326ENST00000219611p.V1023Lc.3067G>TSubstitution - Missense
CAMK4ENSG00000152495ENST00000512453p.S457Yc.1370C>ASubstitution - Missense
LRRN1ENSG00000175928ENST00000319331p.T441Kc.1322C>ASubstitution - Missense
ACVR2BENSG00000114739ENST00000352511p.G147Gc.441G>TSubstitution - coding silent
CNTN4ENSG00000144619ENST00000418658p.C337Fc.1010G>TSubstitution - Missense
OSBPL10ENSG00000144645ENST00000396556p.M138Ic.414G>CSubstitution - Missense
IL1RL1ENSG00000115602ENST00000233954p.S547Tc.1640G>CSubstitution - Missense
ABCA5ENSG00000154265ENST00000392676p.L781Fc.2343G>TSubstitution - Missense
ZNF324BENSG00000249471ENST00000391696p.P507Pc.1521G>TSubstitution - coding silent
FAM47AENSG00000185448ENST00000346193p.G294Gc.882T>ASubstitution - coding silent
FAM47BENSG00000189132ENST00000329357p.P155Pc.465C>ASubstitution - coding silent
FAM47BENSG00000189132ENST00000329357p.R340Gc.1018C>GSubstitution - Missense
RAB11FIP1ENSG00000156675ENST00000330843p.P340Lc.1019C>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.A1668Ac.5004C>ASubstitution - coding silent
HERC6ENSG00000138642ENST00000264346p.M724Lc.2170A>TSubstitution - Missense
DCTN6ENSG00000104671ENST00000221114p.H175fs*3c.522delCDeletion - Frameshift
PRKG2ENSG00000138669ENST00000395578p.R27Rc.79C>ASubstitution - coding silent
LHFPL4ENSG00000156959ENST00000287585p.P227Hc.680C>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.G1948Vc.5843G>TSubstitution - Missense
ENST00000405167p.G1948Vc.5843G>TSubstitution - Missense
LTBP1ENSG00000049323ENST00000407925p.E303Kc.907G>ASubstitution - Missense
TPTEENSG00000166157ENST00000361285p.Q328Kc.982C>ASubstitution - Missense
PLCB1ENSG00000182621ENST00000338037p.G647Cc.1939G>TSubstitution - Missense
PLCB1ENSG00000182621ENST00000378641p.G647Cc.1939G>TSubstitution - Missense
COL20A1ENSG00000101203ENST00000326996p.A472Vc.1415C>TSubstitution - Missense
COL20A1ENSG00000101203ENST00000358894p.A472Vc.1415C>TSubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.V1135Lc.3403G>TSubstitution - Missense
NLRP12ENSG00000142405ENST00000324134p.N144Dc.430A>GSubstitution - Missense
NLRP12ENSG00000142405ENST00000345770p.N144Dc.430A>GSubstitution - Missense
SHISA6ENSG00000188803ENST00000441885p.T297Nc.890C>ASubstitution - Missense
SHISA6ENSG00000188803ENST00000432116p.T297Nc.890C>ASubstitution - Missense
ENST00000570743p.K1620Kc.4860G>ASubstitution - coding silent
NMRAL1ENSG00000153406ENST00000283429p.R48Wc.142A>TSubstitution - Missense
TFGENSG00000114354ENST00000490574p.A217Sc.649G>TSubstitution - Missense
OTOFENSG00000115155ENST00000272371p.G1483Dc.4448G>ASubstitution - Missense
OTOFENSG00000115155ENST00000339598p.G716Dc.2147G>ASubstitution - Missense
OTOFENSG00000115155ENST00000272371p.?c.3894+9G>TUnknown
OTOFENSG00000115155ENST00000402415p.?c.1824+9G>TUnknown
HADHAENSG00000084754ENST00000380649p.R645Sc.1935G>CSubstitution - Missense
PASKENSG00000115687ENST00000234040p.W927Cc.2781G>TSubstitution - Missense
PASKENSG00000115687ENST00000234040p.W927Sc.2780G>CSubstitution - Missense
PASKENSG00000115687ENST00000234040p.W927Sc.2780G>CSubstitution - Missense
OTOSENSG00000178602ENST00000319460p.?c.85+4C>AUnknown
NM_153697.1p.L267Fc.801A>CSubstitution - Missense
ANKRD44ENSG00000065413ENST00000409919p.L292Fc.876A>CSubstitution - Missense
ANKRD44ENSG00000065413ENST00000282272p.L284Fc.852A>CSubstitution - Missense
ANKRD44ENSG00000065413ENST00000424317p.L89Fc.267A>CSubstitution - Missense
HSPD1ENSG00000144381ENST00000388968p.R16fs*15c.45delCDeletion - Frameshift
HSPD1ENSG00000144381ENST00000426480p.R58fs*15c.171delCDeletion - Frameshift
TTNENSG00000155657ENST00000359218p.D4986Ec.14958T>ASubstitution - Missense
ENST00000356127p.D11358Ec.34074T>ASubstitution - Missense
NM_003319p.D4861Ec.14583T>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.E9618Dc.28854A>TSubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.K2585Rc.7754A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.P19177Hc.57530C>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.P12872Hc.38615C>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.L11032Lc.33096G>ASubstitution - coding silent
ENST00000356127p.L17402Lc.52206G>ASubstitution - coding silent
ENST00000427965p.Q110Hc.330G>TSubstitution - Missense
CKMENSG00000104879ENST00000221476p.F3Fc.9C>TSubstitution - coding silent
FAM46DENSG00000174016ENST00000538312p.L299Lc.897T>CSubstitution - coding silent
SATL1ENSG00000184788ENST00000395409p.S208Rc.624C>ASubstitution - Missense
NM_001010888.1p.P593Pc.1779C>ASubstitution - coding silent
ZC3H12BENSG00000102053ENST00000338957p.P507Pc.1521C>ASubstitution - coding silent
STARD8ENSG00000130052ENST00000252336p.V841Lc.2521G>TSubstitution - Missense
STARD8ENSG00000130052ENST00000252336p.V841Lc.2521G>TSubstitution - Missense
ADAMTSL1ENSG00000178031ENST00000380548p.T743Tc.2229G>TSubstitution - coding silent
SLC24A2ENSG00000155886ENST00000341998p.?c.1228+3G>AUnknown
FOCADENSG00000188352ENST00000380249p.E1642Gc.4925A>GSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.S2799Sc.8397C>TSubstitution - coding silent
DNAH8ENSG00000124721ENST00000359357p.P2575Hc.7724C>ASubstitution - Missense
NM_001371.1p.P2575Hc.7724C>ASubstitution - Missense
ADCY2ENSG00000078295ENST00000338316p.L856Lc.2568G>ASubstitution - coding silent
ADCY2ENSG00000078295ENST00000537121p.L676Lc.2028G>ASubstitution - coding silent
NSUN2ENSG00000037474ENST00000264670p.Q294Lc.881A>TSubstitution - Missense
XM_371474.2p.F1701fs*33c.5100delCDeletion - Frameshift
XM_371474.2p.L1736Lc.5208C>GSubstitution - coding silent
SH3BP4ENSG00000130147ENST00000344528p.N582Ic.1745A>TSubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.K2990Kc.8970G>ASubstitution - coding silent
SLC23A3ENSG00000213901ENST00000455516p.P356Sc.1066C>TSubstitution - Missense
DPP10ENSG00000175497ENST00000410059p.G23*c.67G>TSubstitution - Nonsense
DPP10ENSG00000175497ENST00000310323p.G16*c.46G>TSubstitution - Nonsense
IL1BENSG00000125538ENST00000263341p.D89Dc.267C>TSubstitution - coding silent
IL1F10ENSG00000136697ENST00000393197p.K41Nc.123G>TSubstitution - Missense
IL1RAPL1ENSG00000169306ENST00000378993p.S333Sc.999C>TSubstitution - coding silent
IL1RAPL1ENSG00000169306ENST00000378993p.S333Sc.999C>TSubstitution - coding silent
TMLHEENSG00000185973ENST00000334398p.V68Mc.202G>ASubstitution - Missense
GRPRENSG00000126010ENST00000380289p.V270Vc.810G>CSubstitution - coding silent
ABCB4ENSG00000005471ENST00000359206p.N841Kc.2523C>ASubstitution - Missense
ZNF804BENSG00000182348ENST00000333190p.Q425Kc.1273C>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.G594Ac.1781G>CSubstitution - Missense
SEMA3DENSG00000153993ENST00000284136p.I132Ic.396C>ASubstitution - coding silent
GRM3ENSG00000198822ENST00000361669p.F354Ic.1060T>ASubstitution - Missense
HEATR2ENSG00000164818ENST00000297440p.Q772*c.2314C>TSubstitution - Nonsense
HOXA1ENSG00000105991ENST00000343060p.H71_H74delHHRHc.212_223del12Deletion - In frame
HIP1ENSG00000127946ENST00000336926p.A630_Q633delAAEQc.1889_1900del12Deletion - In frame
ABCB5ENSG00000004846ENST00000258738p.S108Sc.324T>ASubstitution - coding silent
ABCB5ENSG00000004846ENST00000443026p.S108Sc.324T>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.R107Sc.321A>TSubstitution - Missense
ADGBENSG00000118492ENST00000367493p.R464Rc.1390C>ASubstitution - coding silent
USTENSG00000111962ENST00000367463p.G114Wc.340G>TSubstitution - Missense
CD83ENSG00000112149ENST00000379153p.G120Dc.359G>ASubstitution - Missense
ADAMTS12ENSG00000151388ENST00000504830p.E186*c.556G>TSubstitution - Nonsense
CDH10ENSG00000040731ENST00000264463p.E739*c.2215G>TSubstitution - Nonsense
CDH10ENSG00000040731ENST00000264463p.A302Pc.904G>CSubstitution - Missense
CDH12ENSG00000154162ENST00000382254p.G163Vc.488G>TSubstitution - Missense
PCDH18ENSG00000189184ENST00000344876p.?c.2577-7T>AUnknown
CRIPAKENSG00000179979ENST00000324803p.T304Mc.911C>TSubstitution - Missense
PCDH10ENSG00000138650ENST00000264360p.I415Tc.1244T>CSubstitution - Missense
HS3ST1ENSG00000002587ENST00000002596p.V231Vc.693C>ASubstitution - coding silent
ARL14ENSG00000179674ENST00000320767p.E99Kc.295G>ASubstitution - Missense
ZIC1ENSG00000152977ENST00000282928p.E337Kc.1009G>ASubstitution - Missense
LRRTM4ENSG00000176204ENST00000409093p.P277Pc.831C>GSubstitution - coding silent
LRRTM4ENSG00000176204ENST00000409911p.P278Hc.833C>ASubstitution - Missense
LRRTM4ENSG00000176204ENST00000409088p.P277Hc.830C>ASubstitution - Missense
LRRTM4ENSG00000176204ENST00000409093p.R165Ic.494G>TSubstitution - Missense
LRRTM4ENSG00000176204ENST00000409088p.R165Ic.494G>TSubstitution - Missense
REG3GENSG00000143954ENST00000393897p.V77Lc.229G>CSubstitution - Missense
REG1BENSG00000172023ENST00000305089p.H112Qc.336C>ASubstitution - Missense
ENST00000314395p.M91Lc.271A>CSubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.M512Lc.1534A>CSubstitution - Missense
FAM65AENSG00000039523ENST00000379312p.?c.580-5C>GUnknown
TTC14ENSG00000163728ENST00000296015p.E511*c.1531G>TSubstitution - Nonsense
WDR49ENSG00000174776ENST00000308378p.R402Sc.1206A>TSubstitution - Missense
WDR49ENSG00000174776ENST00000453925p.R466Sc.1398A>TSubstitution - Missense
PRKCIENSG00000163558ENST00000295797p.V525Ic.1573G>ASubstitution - Missense
SIPA1L3ENSG00000105738ENST00000222345p.T108Sc.322A>TSubstitution - Missense
B3GALNT1ENSG00000169255ENST00000392779p.P251Ac.751C>GSubstitution - Missense
B3GALNT1ENSG00000169255ENST00000392779p.V250Gc.749T>GSubstitution - Missense
SLITRK3ENSG00000121871ENST00000241274p.R425Cc.1273C>TSubstitution - Missense
ZNF461ENSG00000197808ENST00000396893p.Q27*c.79C>TSubstitution - Nonsense
NRXN1ENSG00000179915ENST00000404971p.V1043Ic.3127G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000406316p.V1003Ic.3007G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.S831Cc.2492C>GSubstitution - Missense
NRXN1ENSG00000179915ENST00000406316p.S791Cc.2372C>GSubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.?c.931+1G>AUnknown
NRXN1ENSG00000179915ENST00000406316p.?c.832+1G>AUnknown
FBXO11ENSG00000138081ENST00000403359p.G421*c.1261G>TSubstitution - Nonsense
QPCTENSG00000115828ENST00000338415p.E76Kc.226G>ASubstitution - Missense
DCDC2CENSG00000214866ENST00000399143p.G118Vc.353G>TSubstitution - Missense
NM_004440p.E46Kc.136G>ASubstitution - Missense
DOPEY1ENSG00000083097ENST00000349129p.?c.5838-9C>TUnknown
PTPRKENSG00000152894ENST00000368226p.W1260Rc.3778T>CSubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.T53Kc.158C>ASubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.I2550Ic.7650C>ASubstitution - coding silent
NM_016377.2p.?c.362+10G>AUnknown
GALNT12ENSG00000119514ENST00000375011p.D303Yc.907G>TSubstitution - Missense
MTBPENSG00000172167ENST00000305949p.E36Vc.107A>TSubstitution - Missense
FAM135AENSG00000082269ENST00000370479p.V658Lc.1972G>CSubstitution - Missense
NM_000947.2p.V268Dc.803T>ASubstitution - Missense
FAM26DENSG00000164451ENST00000405399p.C67Fc.200G>TSubstitution - Missense
MICAL1ENSG00000135596ENST00000358807p.L127Fc.379C>TSubstitution - Missense
WASF1ENSG00000112290ENST00000392586p.V318Mc.952G>ASubstitution - Missense
MGAT3ENSG00000128268ENST00000341184p.Q436Hc.1308G>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000402142p.E1753Gc.5258A>GSubstitution - Missense
TNRC6BENSG00000100354ENST00000454349p.K406Nc.1218G>CSubstitution - Missense
APOBEC3FENSG00000128394ENST00000308521p.V58Vc.174G>ASubstitution - coding silent
ARHGAP28ENSG00000088756ENST00000314319p.W374Lc.1121G>TSubstitution - Missense
YES1ENSG00000176105ENST00000584307p.?c.1424-7G>TUnknown
SHROOM2ENSG00000146950ENST00000380913p.G201Gc.603C>TSubstitution - coding silent
CLUL1ENSG00000079101ENST00000338387p.L170Lc.510C>TSubstitution - coding silent
CDH7ENSG00000081138ENST00000323011p.L762Vc.2284C>GSubstitution - Missense
CDH7ENSG00000081138ENST00000323011p.L762Vc.2284C>GSubstitution - Missense
CPXCR1ENSG00000147183ENST00000276127p.R206Rc.618T>GSubstitution - coding silent
ZNF608ENSG00000168916ENST00000306315p.A261Tc.781G>ASubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.G2638fs*59c.7913delGDeletion - Frameshift
FBN2ENSG00000138829ENST00000508053p.G227Gc.681G>TSubstitution - coding silent
RAPGEF6ENSG00000158987ENST00000509018p.*1602fs?c.4803_4804delCTDeletion - Frameshift
FAM193AENSG00000125386ENST00000382839p.K826Kc.2478A>GSubstitution - coding silent
SFRP2ENSG00000145423ENST00000274063p.R208Gc.622C>GSubstitution - Missense
MAP9ENSG00000164114ENST00000311277p.D237Yc.709G>TSubstitution - Missense
FREM3ENSG00000183090ENST00000329798p.S603Yc.1808C>ASubstitution - Missense
CHST2ENSG00000175040ENST00000309575p.L247Lc.741G>TSubstitution - coding silent
SLC9A9ENSG00000181804ENST00000316549p.L384Lc.1152G>TSubstitution - coding silent
PPP2R3AENSG00000073711ENST00000264977p.P530Tc.1588C>ASubstitution - Missense
GSK3BENSG00000082701ENST00000316626p.A410Vc.1229C>TSubstitution - Missense
FSTL1ENSG00000163430ENST00000295633p.?c.582-2_582-1insGUnknown
ATG7ENSG00000197548ENST00000354449p.S490Ic.1469G>TSubstitution - Missense
SMPD4ENSG00000136699ENST00000409031p.V505Vc.1515G>TSubstitution - coding silent
AMER3ENSG00000178171ENST00000321420p.G194Gc.582G>TSubstitution - coding silent
RNF40ENSG00000103549ENST00000324685p.A393fs*13c.1176delGDeletion - Frameshift
TAOK2ENSG00000149930ENST00000308893p.Q431Pc.1292A>CSubstitution - Missense
TAOK2ENSG00000149930ENST00000308893p.Q431fs*31c.1292_1293delAGDeletion - Frameshift
TAOK2ENSG00000149930ENST00000279394p.Q431fs*31c.1292_1293delAGDeletion - Frameshift
CCDC101ENSG00000176476ENST00000317058p.?c.420-9C>AUnknown
LATENSG00000213658ENST00000360872p.D42Nc.124G>ASubstitution - Missense
CSRNP3ENSG00000178662ENST00000342316p.P498Pc.1494C>ASubstitution - coding silent
SCN1AENSG00000144285ENST00000303395p.P707Tc.2119C>ASubstitution - Missense
SCN1AENSG00000144285ENST00000375405p.I538Tc.1613T>CSubstitution - Missense
PXDNENSG00000130508ENST00000252804p.A835Ac.2505C>ASubstitution - coding silent
SCN2AENSG00000136531ENST00000375427p.R574Rc.1722G>ASubstitution - coding silent
MED15ENSG00000099917ENST00000263205p.A97Tc.289G>ASubstitution - Missense
ENST00000400460p.T105Tc.315C>GSubstitution - coding silent
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
ESYT2ENSG00000117868ENST00000251527p.V679Vc.2037C>GSubstitution - coding silent
KMT2CENSG00000055609ENST00000262189p.P871Hc.2612C>ASubstitution - Missense
EVCENSG00000072840ENST00000264956p.R576Rc.1726C>ASubstitution - coding silent
NEBENSG00000183091ENST00000409198p.R2721Cc.8161C>TSubstitution - Missense
TPOENSG00000115705ENST00000345913p.T310Kc.929C>ASubstitution - Missense
ACVR2AENSG00000121989ENST00000241416p.C85Yc.254G>ASubstitution - Missense
TPOENSG00000115705ENST00000345913p.?c.2519-9G>TUnknown
RIF1ENSG00000080345ENST00000444746p.A723Sc.2167G>TSubstitution - Missense
ZNF224ENSG00000267680ENST00000336976p.T320Tc.960G>TSubstitution - coding silent
IRGCENSG00000124449ENST00000244314p.Q180Qc.540G>ASubstitution - coding silent
OR7A10ENSG00000127515ENST00000248058p.P175Pc.525T>ASubstitution - coding silent
E4F1ENSG00000167967ENST00000301727p.H133Hc.399C>TSubstitution - coding silent
ZP2ENSG00000103310ENST00000219593p.T217Tc.651C>ASubstitution - coding silent
UQCRC2ENSG00000140740ENST00000268379p.R127Rc.381G>TSubstitution - coding silent
DHODHENSG00000102967ENST00000219240p.A30Ac.90C>ASubstitution - coding silent
ENST00000316490p.?c.14511+9C>TUnknown
RIMS2ENSG00000176406ENST00000406091p.P237Qc.710C>ASubstitution - Missense
VSTM2AENSG00000170419ENST00000402026p.G77Gc.231G>ASubstitution - coding silent
AGAP3ENSG00000133612ENST00000397238p.Q59fs*31c.166delGDeletion - Frameshift
ARHGEF5ENSG00000050327ENST00000056217p.G1546Vc.4637G>TSubstitution - Missense
CLCN1ENSG00000188037ENST00000343257p.A331Sc.991G>TSubstitution - Missense
TAS2R41ENSG00000221855ENST00000408916p.V30Lc.88G>TSubstitution - Missense
IMMP2LENSG00000184903ENST00000331762p.W7Sc.20G>CSubstitution - Missense
IMMP2LENSG00000184903ENST00000437687p.W7Sc.20G>CSubstitution - Missense
ENST00000342288p.?c.126+1G>TUnknown
NM_002711.2p.E929*c.2785G>TSubstitution - Nonsense
NM_002711.2p.V685Lc.2053G>TSubstitution - Missense
LAMB1ENSG00000091136ENST00000222399p.A1069Vc.3206C>TSubstitution - Missense
LAMB1ENSG00000091136ENST00000222399p.C437Sc.1309T>ASubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.T980Ic.2939C>TSubstitution - Missense
OR2B3ENSG00000204703ENST00000377173p.P53Pc.159C>ASubstitution - coding silent
DUSP22ENSG00000112679ENST00000344450p.N6Ic.17A>TSubstitution - Missense
GABBR1ENSG00000204681ENST00000377034p.?c.1566+1G>TUnknown
HLA-FENSG00000204642ENST00000376861p.A317Ac.951T>CSubstitution - coding silent
FBXL7ENSG00000183580ENST00000504595p.G72Cc.214G>TSubstitution - Missense
FBXL7ENSG00000183580ENST00000504595p.Y9*c.27C>ASubstitution - Nonsense
SGCDENSG00000170624ENST00000337851p.L77Ic.229C>ASubstitution - Missense
PCDHB4ENSG00000081818ENST00000194152p.E405*c.1213G>TSubstitution - Nonsense
PCDHA4ENSG00000204967ENST00000530339p.S742Sc.2226C>TSubstitution - coding silent
PCDHA4ENSG00000204967ENST00000356878p.S742Sc.2226C>TSubstitution - coding silent
ATP2B3ENSG00000067842ENST00000349466p.P130Rc.389C>GSubstitution - Missense
ATP2B3ENSG00000067842ENST00000263519p.P130Rc.389C>GSubstitution - Missense
ATP2B3ENSG00000067842ENST00000359149p.P130Rc.389C>GSubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.?c.1042-1G>TUnknown
AFF2ENSG00000155966ENST00000370460p.M1225Kc.3674T>ASubstitution - Missense
AFF2ENSG00000155966ENST00000286437p.M866Kc.2597T>ASubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.M1225Kc.3674T>ASubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.Q574Kc.1720C>ASubstitution - Missense
FHL1ENSG00000022267ENST00000394155p.R44Lc.131G>TSubstitution - Missense
FHL1ENSG00000022267ENST00000539015p.R73Lc.218G>TSubstitution - Missense
FHL1ENSG00000022267ENST00000370690p.R44Lc.131G>TSubstitution - Missense
SUGCTENSG00000175600ENST00000309930p.?c.1007+9G>TUnknown
SDK1ENSG00000146555ENST00000404826p.E1944*c.5830G>TSubstitution - Nonsense
PTPRDENSG00000153707ENST00000381196p.L981Ic.2941C>ASubstitution - Missense
SETXENSG00000107290ENST00000224140p.A373Sc.1117G>TSubstitution - Missense
TRIOENSG00000038382ENST00000344204p.L277Wc.830T>GSubstitution - Missense
KLF7ENSG00000118263ENST00000412414p.A162Ac.486T>ASubstitution - coding silent
KLF7ENSG00000118263ENST00000412414p.A162Dc.485C>ASubstitution - Missense
SCN1AENSG00000144285ENST00000423058p.P707Tc.2119C>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000336649p.E1759Gc.5276A>GSubstitution - Missense
CACNA1IENSG00000100346ENST00000400164p.E1718Gc.5153A>GSubstitution - Missense
SONENSG00000159140ENST00000290239p.V424Lc.1270G>TSubstitution - Missense
ITSN1ENSG00000205726ENST00000381285p.R226Sc.678G>TSubstitution - Missense
ITSN1ENSG00000205726ENST00000399338p.R226Sc.678G>TSubstitution - Missense
ENST00000262870p.?c.800+6T>CUnknown
EPB41L3ENSG00000082397ENST00000544123p.P395Sc.1183C>TSubstitution - Missense
GAS7ENSG00000007237ENST00000396115p.E241*c.721G>TSubstitution - Nonsense
SDK2ENSG00000069188ENST00000392650p.?c.4395-7C>TUnknown
TAOK2ENSG00000149930ENST00000416441p.Q258Pc.773A>CSubstitution - Missense
NFATC4ENSG00000100968ENST00000556279p.?c.1293-5C>AUnknown
BTBD8ENSG00000189195ENST00000370382p.K70Rc.209A>GSubstitution - Missense
LEPRENSG00000116678ENST00000371059p.W132Cc.396G>TSubstitution - Missense
FCRLAENSG00000132185ENST00000540926p.G297Gc.891G>TSubstitution - coding silent
FHAD1ENSG00000142621ENST00000358897p.W191*c.572G>ASubstitution - Nonsense
UBE2J2ENSG00000160087ENST00000339385p.L94Lc.282G>TSubstitution - coding silent
PRDM2ENSG00000116731ENST00000376048p.E77Vc.230A>TSubstitution - Missense
RTCAENSG00000137996ENST00000260563p.V351Lc.1051G>TSubstitution - Missense
WDR47ENSG00000085433ENST00000400794p.V843Lc.2527G>TSubstitution - Missense
SRGAP1ENSG00000196935ENST00000357825p.G468Rc.1402G>ASubstitution - Missense
CNTN1ENSG00000018236ENST00000547849p.?c.62-3T>CUnknown
CNTN1ENSG00000018236ENST00000547849p.P504Hc.1511C>ASubstitution - Missense
WSCD2ENSG00000075035ENST00000261400p.R88Sc.264G>TSubstitution - Missense
PRB4ENSG00000230657ENST00000279575p.P114Qc.341C>ASubstitution - Missense
SFMBT2ENSG00000198879ENST00000379711p.E19*c.55G>TSubstitution - Nonsense
SLC16A12ENSG00000152779ENST00000371790p.R431Rc.1293G>TSubstitution - coding silent
ENST00000356567p.R562Sc.1686G>TSubstitution - Missense
FGFR2ENSG00000066468ENST00000369056p.G89Vc.266G>TSubstitution - Missense
FGFR2ENSG00000066468ENST00000359354p.G89Vc.266G>TSubstitution - Missense
FANK1ENSG00000203780ENST00000368691p.?c.474-2A>TUnknown
FANK1ENSG00000203780ENST00000368691p.W194Lc.581G>TSubstitution - Missense
COL20A1ENSG00000101203ENST00000422202p.A479Vc.1436C>TSubstitution - Missense
POPDC2ENSG00000121577ENST00000264231p.R263Cc.787C>TSubstitution - Missense
POPDC2ENSG00000121577ENST00000468801p.R263Cc.787C>TSubstitution - Missense
GRM4ENSG00000124493ENST00000374181p.M209Ic.627G>ASubstitution - Missense
ZNF76ENSG00000065029ENST00000373953p.P105Lc.314C>TSubstitution - Missense
BTNL2ENSG00000204290ENST00000374993p.V83Vc.249G>CSubstitution - coding silent
ADAMTS16ENSG00000145536ENST00000274181p.V788Lc.2362G>CSubstitution - Missense
NM_139056.1p.V788Lc.2362G>CSubstitution - Missense
ADAMTS16ENSG00000145536ENST00000274181p.A868Sc.2602G>TSubstitution - Missense
NM_139056.1p.A868Sc.2602G>TSubstitution - Missense
NCAPGENSG00000109805ENST00000251496p.T916Ac.2746A>GSubstitution - Missense
TLL1ENSG00000038295ENST00000061240p.V489Vc.1467G>TSubstitution - coding silent
ANXA10ENSG00000109511ENST00000359299p.E279Dc.837A>CSubstitution - Missense
PALLDENSG00000129116ENST00000261509p.E141Kc.421G>ASubstitution - Missense
SCRG1ENSG00000164106ENST00000296506p.P42Qc.125C>ASubstitution - Missense
GPM6AENSG00000150625ENST00000393658p.C122Fc.365G>TSubstitution - Missense
KCNH8ENSG00000183960ENST00000328405p.?c.1575+6G>AUnknown
ETFDHENSG00000171503ENST00000511912p.?c.606+5delgUnknown
DGKGENSG00000058866ENST00000265022p.?c.1350-5C>TUnknown
SSTENSG00000157005ENST00000287641p.G104Vc.311G>TSubstitution - Missense
HTR3EENSG00000186038ENST00000335304p.A59Sc.175G>TSubstitution - Missense
AP2M1ENSG00000161203ENST00000292807p.V201Vc.603G>CSubstitution - coding silent
GPR107ENSG00000148358ENST00000347136p.?c.255+36_527-1085del6696Unknown
ENST00000355497_v68p.?c.819+4A>GUnknown
LMX1BENSG00000136944ENST00000355497p.?c.750+4A>GUnknown
PTGS1ENSG00000095303ENST00000362012p.H319Nc.955C>ASubstitution - Missense
PAPPAENSG00000182752ENST00000328252p.A1209Ec.3626C>ASubstitution - Missense
ADCY8ENSG00000155897ENST00000286355p.I1074Kc.3221T>ASubstitution - Missense
MYO3BENSG00000071909ENST00000408978p.S899Sc.2697T>CSubstitution - coding silent
NM_138995p.S899Sc.2697T>CSubstitution - coding silent
TACC2ENSG00000138162ENST00000369005p.A152Vc.455C>TSubstitution - Missense
TMEM55BENSG00000165782ENST00000250489p.T83Sc.247A>TSubstitution - Missense
MS4A6AENSG00000110077ENST00000529054p.G259Vc.776G>TSubstitution - Missense
NAV3ENSG00000067798ENST00000397909p.L2045Fc.6135G>TSubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.N959Kc.2877C>GSubstitution - Missense
SMCHD1ENSG00000101596ENST00000261598p.T527Mc.1580C>TSubstitution - Missense
PILRBENSG00000121716ENST00000448382p.E152Ec.456A>GSubstitution - coding silent
PSG1ENSG00000231924ENST00000595356p.P158Hc.473C>ASubstitution - Missense
SEZ6ENSG00000063015ENST00000360295p.A172Ac.516C>ASubstitution - coding silent
DCLK1ENSG00000133083ENST00000379892p.V195Lc.583G>TSubstitution - Missense
TAOK2ENSG00000149930ENST00000416441p.A874Vc.2621C>TSubstitution - Missense
AMDHD2ENSG00000162066ENST00000413459p.D86Dc.258C>TSubstitution - coding silent
OR4C16ENSG00000181935ENST00000314634p.T257Kc.770C>ASubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.P871Hc.2612C>ASubstitution - Missense
SHHENSG00000164690ENST00000297261p.?c.301-8C>TUnknown
ZNF181ENSG00000197841ENST00000492450p.L417Fc.1249C>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.?c.931+1G>AUnknown
SBF1ENSG00000100241ENST00000390679p.?c.2967+8G>TUnknown
AMDHD2ENSG00000162066ENST00000302956p.D86Dc.258C>TSubstitution - coding silent
LRCH4ENSG00000077454ENST00000310300p.E372Ac.1115A>CSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.R2391Hc.7172G>ASubstitution - Missense
GLI2ENSG00000074047ENST00000361492p.P1305Tc.3913C>ASubstitution - Missense
KCNAB1ENSG00000169282ENST00000490337p.G25Gc.75G>ASubstitution - coding silent
RPGRENSG00000156313ENST00000339363p.A736Pc.2206G>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.D11358Ec.34074T>ASubstitution - Missense
ZNF480ENSG00000198464ENST00000335090p.R260Gc.778A>GSubstitution - Missense
NM_003319p.R22349Gc.67045A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.P23133Pc.69399T>ASubstitution - coding silent
KRTAP26-1ENSG00000197683ENST00000360542p.A170Dc.509C>ASubstitution - Missense
ENST00000428290_v65p.E429Kc.1285G>ASubstitution - Missense
GGT7ENSG00000131067ENST00000336431p.?c.676-3C>TUnknown
ASNSD1ENSG00000138381ENST00000260952p.K520Kc.1560G>ASubstitution - coding silent
TMEM132BENSG00000139364ENST00000299308p.P440Rc.1319C>GSubstitution - Missense
WDR47ENSG00000085433ENST00000369965p.V836Lc.2506G>TSubstitution - Missense
PLA2G4FENSG00000168907ENST00000382396p.E93Kc.277G>ASubstitution - Missense
TRPM1ENSG00000134160ENST00000397795p.A582Ac.1746T>ASubstitution - coding silent
SORCS3ENSG00000156395ENST00000369701p.?c.2993-8C>AUnknown
SCN8AENSG00000196876ENST00000354534p.M412Ic.1236G>TSubstitution - Missense
WSCD2ENSG00000075035ENST00000332082p.R88Sc.264G>TSubstitution - Missense
FHL1ENSG00000022267ENST00000370683p.R60Lc.179G>TSubstitution - Missense
SETXENSG00000107290ENST00000372169p.A373Sc.1117G>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.P2012Qc.6035C>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.G3220Vc.9659G>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.G3220Gc.9660G>TSubstitution - coding silent
PCLOENSG00000186472ENST00000423517p.G648Ac.1943G>CSubstitution - Missense
GRM3ENSG00000198822ENST00000394720p.F352Ic.1054T>ASubstitution - Missense
KMT2EENSG00000005483ENST00000476671p.?c.417-2A>GUnknown
GRM8ENSG00000179603ENST00000358373p.Y546Yc.1638C>TSubstitution - coding silent
DNAH8ENSG00000124721ENST00000449981p.P2792Hc.8375C>ASubstitution - Missense
ENST00000468270p.V83Vc.249G>CSubstitution - coding silent
SYNE1ENSG00000131018ENST00000448038p.R107Sc.321A>TSubstitution - Missense
FAM26DENSG00000164451ENST00000416171p.C66Fc.197G>TSubstitution - Missense
STRADBENSG00000082146ENST00000392249p.?c.720+6G>TUnknown
LPHN3ENSG00000150471ENST00000507625p.M896Ic.2688G>ASubstitution - Missense
APBB1ENSG00000166313ENST00000389906p.S205Cc.613A>TSubstitution - Missense
ZCCHC7ENSG00000147905ENST00000322831p.N198fs*>8c.590delADeletion - Frameshift
HSPD1ENSG00000144381ENST00000544407p.R16fs*15c.45delCDeletion - Frameshift
FAM193AENSG00000125386ENST00000324666p.K826Kc.2478A>GSubstitution - coding silent
FLNBENSG00000136068ENST00000357272p.V467Ic.1399G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000402717p.D764Yc.2290G>TSubstitution - Missense
HDAC4ENSG00000068024ENST00000541256p.E493*c.1477G>TSubstitution - Nonsense
ENST00000310397_v70p.R879Lc.2636G>TSubstitution - Missense
MYT1LENSG00000186487ENST00000428368p.?c.2853-7C>AUnknown
ANKRD44ENSG00000065413ENST00000337207p.L267Fc.801A>CSubstitution - Missense
ZNF679ENSG00000197123ENST00000421025p.R259Mc.776G>TSubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.H615Yc.1843C>TSubstitution - Missense
GLI2ENSG00000074047ENST00000361492p.V1304Vc.3912C>ASubstitution - coding silent
RAET1GENSG00000203722ENST00000367360p.D202Nc.604G>ASubstitution - Missense
RGPD3ENSG00000153165ENST00000409886p.?c.1635-3T>GUnknown
ENST00000318252p.A1397Ac.4191C>ASubstitution - coding silent
PRKG2ENSG00000138669ENST00000395578p.R27Rc.79C>ASubstitution - coding silent
NM_203407.1p.G31Gc.93G>TSubstitution - coding silent
LIPIENSG00000188992ENST00000344577p.?c.1359-9C>AUnknown
TPTEENSG00000166157ENST00000298232p.Q310Kc.928C>ASubstitution - Missense
EIF4ENIF1ENSG00000184708ENST00000397525p.G605Gc.1815C>ASubstitution - coding silent
TMEM45AENSG00000181458ENST00000323523p.G18Gc.54T>ASubstitution - coding silent
ENSG00000091436ENST00000409176p.G426Sc.1276G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.R22474Gc.67420A>GSubstitution - Missense
ENST00000356127p.I26344Fc.79030A>TSubstitution - Missense
SONENSG00000159140ENST00000300278p.V424Lc.1270G>TSubstitution - Missense
KRTAP4-6ENSG00000198090ENST00000345847p.P92Pc.276C>TSubstitution - coding silent
ERAL1ENSG00000132591ENST00000254928p.R62Rc.186C>TSubstitution - coding silent
KIF16BENSG00000089177ENST00000354981p.?c.348+8G>TUnknown
AHDC1ENSG00000126705ENST00000247087p.R1183Wc.3547C>TSubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.K1224Nc.3672G>TSubstitution - Missense
DRGXENSG00000165606ENST00000434016p.G128Gc.384G>ASubstitution - coding silent
PALD1ENSG00000107719ENST00000263563p.K592Mc.1775A>TSubstitution - Missense
TBRG1ENSG00000154144ENST00000441174p.Y106Yc.318T>CSubstitution - coding silent
FAM26DENSG00000164451ENST00000368597p.C24Fc.71G>TSubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.P1624Qc.4871C>ASubstitution - Missense
SMCHD1ENSG00000101596ENST00000320876p.T527Mc.1580C>TSubstitution - Missense
OR4C16ENSG00000181935ENST00000314634p.P264Hc.791C>ASubstitution - Missense
OR52B6ENSG00000187747ENST00000345043p.A144Ac.432C>ASubstitution - coding silent
ENST00000331596p.L140Mc.418C>ASubstitution - Missense
GABRG2ENSG00000113327ENST00000356592p.T387Nc.1160C>ASubstitution - Missense
NM_002711.2p.L130Lc.388C>TSubstitution - coding silent
HECW1ENSG00000002746ENST00000395891p.Q574Kc.1720C>ASubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.?c.1042-1G>TUnknown
GALNT11ENSG00000178234ENST00000320311p.F15fs*17c.41_42delTTDeletion - Frameshift
LANCL2ENSG00000132434ENST00000254770p.W399Lc.1196G>TSubstitution - Missense
PTPRKENSG00000152894ENST00000368213p.W1266Rc.3796T>CSubstitution - Missense
FAM101BENSG00000183688ENST00000329099p.A131Ac.393C>TSubstitution - coding silent
SLITRK3ENSG00000121871ENST00000241274p.R163Lc.488G>TSubstitution - Missense
PRMT10ENSG00000164169ENST00000322396p.K126Nc.378A>TSubstitution - Missense
ZNF711ENSG00000147180ENST00000373165p.P732Ac.2194C>GSubstitution - Missense
TTC37ENSG00000198677ENST00000358746p.G468Cc.1402G>TSubstitution - Missense
PROKR1ENSG00000169618ENST00000303786p.L87Lc.261G>TSubstitution - coding silent
UROC1ENSG00000159650ENST00000290868p.R280Lc.839G>TSubstitution - Missense
PLIN5ENSG00000214456ENST00000381848p.A6Ac.18G>TSubstitution - coding silent
KDELR1ENSG00000105438ENST00000330720p.Y158Yc.474C>TSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.G648Ac.1943G>CSubstitution - Missense
CDH9ENSG00000113100ENST00000231021p.N190Nc.570C>TSubstitution - coding silent
LRRTM4ENSG00000176204ENST00000409093p.P277Hc.830C>ASubstitution - Missense
FAM173BENSG00000150756ENST00000511437p.R217Pc.650G>CSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.G3269Vc.9806G>TSubstitution - Missense
MICAL3ENSG00000243156ENST00000429452p.E576Dc.1728G>TSubstitution - Missense
NM_003319p.P16636Pc.49908T>ASubstitution - coding silent
RANBP1ENSG00000099901ENST00000331821p.?c.310+7G>TUnknown
NISCHENSG00000010322ENST00000345716p.A497Sc.1489G>TSubstitution - Missense
ENST00000357934p.Y176*c.528C>GSubstitution - Nonsense
SCN4AENSG00000007314ENST00000435607p.L1235Ic.3703C>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.?c.18509-4A>GUnknown
SYDE2ENSG00000097096ENST00000341460p.P1028fs*5c.3083delCDeletion - Frameshift
LRRK1ENSG00000154237ENST00000284395p.?c.1600+9G>TUnknown
KCNC2ENSG00000166006ENST00000549446p.V302Gc.905T>GSubstitution - Missense
NM_005933.1p.G3899Vc.11696G>TSubstitution - Missense
VANGL1ENSG00000173218ENST00000355485p.R403Mc.1208G>TSubstitution - Missense
SORCS3ENSG00000156395ENST00000369701p.G943Gc.2829G>CSubstitution - coding silent
TAS2R8ENSG00000121314ENST00000240615p.Q82Hc.246G>TSubstitution - Missense
SCN1AENSG00000144285ENST00000375405p.P696Tc.2086C>ASubstitution - Missense
ENST00000414315p.C3Fc.8G>TSubstitution - Missense
CLEC3AENSG00000166509ENST00000299642p.C192*c.576T>ASubstitution - Nonsense
FOLH1ENSG00000086205ENST00000256999p.L462Lc.1384C>TSubstitution - coding silent
ANO6ENSG00000177119ENST00000441606p.Q638Hc.1914G>CSubstitution - Missense
ENST00000316490_v65p.?c.14655+9C>TUnknown
MYNNENSG00000085274ENST00000349841p.K464Kc.1392A>GSubstitution - coding silent
EIF3DENSG00000100353ENST00000216190p.L217Lc.649C>TSubstitution - coding silent
NM_021998.2p.P742Ac.2224C>GSubstitution - Missense
MAGI2ENSG00000187391ENST00000354212p.S1071Lc.3212C>TSubstitution - Missense
UMPSENSG00000114491ENST00000232607p.R235Mc.704G>TSubstitution - Missense
CRIPAKENSG00000179979ENST00000324803p.G308Gc.924A>GSubstitution - coding silent
CITED2ENSG00000164442ENST00000367651p.R154*c.460C>TSubstitution - Nonsense
ENST00000326929p.?c.1708-2A>GUnknown
IL1F10ENSG00000136697ENST00000337569p.K41Nc.123G>TSubstitution - Missense
LRRTM4ENSG00000176204ENST00000409911p.P278Pc.834C>GSubstitution - coding silent
FOXF1ENSG00000103241ENST00000262426p.T123Tc.369C>ASubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.P2057Qc.6170C>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.P16828Pc.50484T>ASubstitution - coding silent
NM_003319p.I19849Fc.59545A>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.G25554Vc.76661G>TSubstitution - Missense
ENST00000356127p.E9618Dc.28854A>TSubstitution - Missense
LY6HENSG00000176956ENST00000430474p.T41Tc.123C>ASubstitution - coding silent
KRTAP10-9ENSG00000221837ENST00000397911p.S228Sc.684C>TSubstitution - coding silent
ZNF500ENSG00000103199ENST00000219478p.S422Lc.1265C>TSubstitution - Missense
ENST00000518137_v70p.G255Rc.763G>CSubstitution - Missense
CIRBPENSG00000099622ENST00000444172p.T169Mc.506C>TSubstitution - Missense
RP1ENSG00000104237ENST00000220676p.V859Fc.2575G>TSubstitution - Missense
MTF2ENSG00000143033ENST00000370298p.Q511*c.1531C>TSubstitution - Nonsense
SNX5ENSG00000089006ENST00000377768p.I35Mc.105A>GSubstitution - Missense
NAA30ENSG00000139977ENST00000556492p.A170Dc.509C>ASubstitution - Missense
KIAA0586ENSG00000100578ENST00000354386p.Y134Fc.401A>TSubstitution - Missense
NIPBLENSG00000164190ENST00000448238p.?c.5808+6A>TUnknown
NCAM1ENSG00000149294ENST00000316851p.A539Ec.1616C>ASubstitution - Missense
NM_002837.2p.D1271Yc.3811G>TSubstitution - Missense
MPHOSPH9ENSG00000051825ENST00000541076p.E892Dc.2676A>TSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.S2226Sc.6678G>ASubstitution - coding silent
VAV3ENSG00000134215ENST00000370056p.?c.1705+7C>AUnknown
PCDH15ENSG00000150275ENST00000361849p.E730Kc.2188G>ASubstitution - Missense
APBA2ENSG00000034053ENST00000561069p.L366Lc.1098C>ASubstitution - coding silent
CALCAENSG00000110680ENST00000361010p.F28Fc.84C>TSubstitution - coding silent
MS4A6AENSG00000110077ENST00000323961p.G231Vc.692G>TSubstitution - Missense
ABCC9ENSG00000069431ENST00000261200p.D928Dc.2784C>TSubstitution - coding silent
FHAD1ENSG00000142621ENST00000375999p.W191*c.572G>ASubstitution - Nonsense
OR10S1ENSG00000196248ENST00000531945p.G110Sc.328G>ASubstitution - Missense
DROSHAENSG00000113360ENST00000511367p.P1292Lc.3875C>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.M828Ic.2484G>ASubstitution - Missense
NCSTNENSG00000162736ENST00000294785p.R232Qc.695G>ASubstitution - Missense
BRAFENSG00000157764ENST00000288602p.G466Vc.1397G>TSubstitution - Missense
NM_003319p.P6Pc.18G>ASubstitution - coding silent
MYNNENSG00000085274ENST00000392733p.K464Kc.1392A>GSubstitution - coding silent
CCDC175ENSG00000151838ENST00000537690p.I674Tc.2021T>CSubstitution - Missense
SCN1AENSG00000144285ENST00000303395p.I538Tc.1613T>CSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.C135Fc.404G>TSubstitution - Missense
NEBENSG00000183091ENST00000427231p.R2721Cc.8161C>TSubstitution - Missense
OR2H1ENSG00000204688ENST00000377132p.V81Vc.243C>TSubstitution - coding silent
SLITRK3ENSG00000121871ENST00000241274p.L960Ic.2878C>ASubstitution - Missense
HAAOENSG00000162882ENST00000294973p.S261Lc.782C>TSubstitution - Missense
FAM135AENSG00000082269ENST00000418814p.V871Lc.2611G>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.S2666Yc.7997C>ASubstitution - Missense
TDO2ENSG00000151790ENST00000536354p.K380Kc.1140G>ASubstitution - coding silent
SBF1ENSG00000100241ENST00000380817p.?c.2967+8G>TUnknown
FREM3ENSG00000183090ENST00000329798p.Q863Hc.2589A>CSubstitution - Missense
CASP12ENSG00000204403ENST00000422698p.T195Tc.585C>ASubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.?c.3085-3C>AUnknown
CFHR5ENSG00000134389ENST00000367414p.T341Ic.1022C>TSubstitution - Missense
WDR65ENSG00000243710ENST00000528956p.I664Ic.1992C>TSubstitution - coding silent
SV2BENSG00000185518ENST00000394232p.N553Nc.1659C>TSubstitution - coding silent
PCDH15ENSG00000150275ENST00000395438p.E730Kc.2188G>ASubstitution - Missense
SPENENSG00000065526ENST00000375759p.G2078Ac.6233G>CSubstitution - Missense
HRNRENSG00000197915ENST00000368801p.G258*c.772G>TSubstitution - Nonsense
ANO6ENSG00000177119ENST00000425752p.Q656Hc.1968G>CSubstitution - Missense
GFRA1ENSG00000151892ENST00000439649p.S428Sc.1284C>GSubstitution - coding silent
FANK1ENSG00000203780ENST00000368693p.?c.540-2A>TUnknown
GPD1ENSG00000167588ENST00000301149p.G267Rc.799G>ASubstitution - Missense
RTCAENSG00000137996ENST00000370128p.V338Lc.1012G>TSubstitution - Missense
KRTAP19-7ENSG00000244362ENST00000334849p.G17Vc.50G>TSubstitution - Missense
NM_133638.1p.S646Sc.1938C>TSubstitution - coding silent
MYH7ENSG00000092054ENST00000355349p.V1691Mc.5071G>ASubstitution - Missense
RHOBTB2ENSG00000008853ENST00000251822p.P239Lc.716C>TSubstitution - Missense
KLHL7ENSG00000122550ENST00000545771p.A99Ac.297A>CSubstitution - coding silent
TIMD4ENSG00000145850ENST00000274532p.C111Sc.331T>ASubstitution - Missense
ENST00000576860p.G22Gc.66C>ASubstitution - coding silent
IL17REENSG00000163701ENST00000421412p.A95Sc.283G>TSubstitution - Missense
DENND5BENSG00000170456ENST00000306833p.G798Rc.2392G>CSubstitution - Missense
ARHGEF2ENSG00000116584ENST00000368315p.G932Ec.2795G>ASubstitution - Missense
ZNF454ENSG00000178187ENST00000320129p.Q30Hc.90G>TSubstitution - Missense
SUGCTENSG00000175600ENST00000309930p.?c.1007+9G>TUnknown
RIMS2ENSG00000176406ENST00000507740p.P45Qc.134C>ASubstitution - Missense
PCDHB5ENSG00000113209ENST00000231134p.D161Ec.483C>ASubstitution - Missense
XM_372268.2p.R778Hc.2333G>ASubstitution - Missense
FAM71BENSG00000170613ENST00000302938p.D62Nc.184G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.D812Yc.2434G>TSubstitution - Missense
SLIT2ENSG00000145147ENST00000504154p.G288Rc.862G>ASubstitution - Missense
SLIT2ENSG00000145147ENST00000504154p.P1365Tc.4093C>ASubstitution - Missense
RAPGEF6ENSG00000158987ENST00000307984p.*1510fs?c.4527_4528delCTDeletion - Frameshift
PPARGC1AENSG00000109819ENST00000264867p.G382Rc.1144G>CSubstitution - Missense
F13A1ENSG00000124491ENST00000264870p.D477Ec.1431T>GSubstitution - Missense
GUSBENSG00000169919ENST00000304895p.H346Hc.1038C>TSubstitution - coding silent
ANK2ENSG00000145362ENST00000357077p.P2668Hc.8003C>ASubstitution - Missense
FLNAENSG00000196924ENST00000369850p.R2391Hc.7172G>ASubstitution - Missense
FAM65AENSG00000039523ENST00000042381p.?c.568-5C>GUnknown
CDS1ENSG00000163624ENST00000295887p.A294Sc.880G>TSubstitution - Missense
FOXC2ENSG00000176692ENST00000320354p.F108Yc.323T>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.P12805Hc.38414C>ASubstitution - Missense
SMC6ENSG00000163029ENST00000448223p.M1Ic.3G>TSubstitution - Missense
ENST00000356127p.P23131Pc.69393T>ASubstitution - coding silent
CBR1ENSG00000159228ENST00000290349p.E245Qc.733G>CSubstitution - Missense
BTN3A2ENSG00000186470ENST00000527422p.I237Ic.711C>TSubstitution - coding silent
ENST00000411702p.Y4379Yc.13137C>TSubstitution - coding silent
GRSF1ENSG00000132463ENST00000254799p.R153*c.457C>TSubstitution - Nonsense
PDLIM2ENSG00000120913ENST00000265810p.K224Nc.672G>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.C135Fc.404G>TSubstitution - Missense
LCE2AENSG00000187173ENST00000368779p.G53_C60delGSSSGGCCc.137_160del24Deletion - In frame
DYRK2ENSG00000127334ENST00000344096p.K575Ic.1724A>TSubstitution - Missense
RCN1ENSG00000049449ENST00000054950p.G262Wc.784G>TSubstitution - Missense
PRB4ENSG00000230657ENST00000279575p.P93Qc.278C>ASubstitution - Missense
SNW1ENSG00000100603ENST00000261531p.A63Vc.188C>TSubstitution - Missense
CALCAENSG00000110680ENST00000331587p.F28Fc.84C>TSubstitution - coding silent
FCRLAENSG00000132185ENST00000367959p.G314Gc.942G>TSubstitution - coding silent
CYP17A1ENSG00000148795ENST00000369887p.H373fs*46c.1117delCDeletion - Frameshift
OR4K5ENSG00000176281ENST00000315915p.N5Hc.13A>CSubstitution - Missense
ACSS3ENSG00000111058ENST00000548058p.E334Dc.1002G>TSubstitution - Missense
CAPN5ENSG00000149260ENST00000278559p.L511Fc.1531C>TSubstitution - Missense
NRG3ENSG00000185737ENST00000372141p.L85Ic.253C>ASubstitution - Missense
OR8D2ENSG00000197263ENST00000357438p.S74Yc.221C>ASubstitution - Missense
EPSTI1ENSG00000133106ENST00000313640p.P20Pc.60G>TSubstitution - coding silent
TRIOENSG00000038382ENST00000344204p.K1072fs*14c.3213delGDeletion - Frameshift
COL14A1ENSG00000187955ENST00000297848p.P1665Pc.4995T>ASubstitution - coding silent
BRD1ENSG00000100425ENST00000342989p.?c.883+8C>AUnknown
CHL1ENSG00000134121ENST00000256509p.G1203Ac.3608G>CSubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.H615Yc.1843C>TSubstitution - Missense
ADGBENSG00000118492ENST00000397944p.?c.1708-2A>GUnknown
TRAM1L1ENSG00000174599ENST00000310754p.Q330Hc.990G>TSubstitution - Missense
PLA2G12AENSG00000123739ENST00000243501p.G70Vc.209G>TSubstitution - Missense
COL9A3ENSG00000092758ENST00000343916p.G139Sc.415G>ASubstitution - Missense
OTOFENSG00000115155ENST00000339598p.?c.1593+9G>TUnknown
STRADBENSG00000082146ENST00000194530p.?c.720+6G>TUnknown
ZNF480ENSG00000198464ENST00000468240p.R279Gc.835A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.G19249Vc.57746G>TSubstitution - Missense
ZNF322ENSG00000181315ENST00000415922p.Q345_T346ins*c.1033_1034insAGTInsertion - In frame
CHRM2ENSG00000181072ENST00000320658p.N58Kc.174C>ASubstitution - Missense
C8orf34ENSG00000165084ENST00000518698p.P440Lc.1319C>TSubstitution - Missense
SMARCA4ENSG00000127616ENST00000358026p.G1232Dc.3695G>ASubstitution - Missense
NM_015009.1p.T489Sc.1465A>TSubstitution - Missense
SPATA31A6ENSG00000185775ENST00000332857p.G550Vc.1649G>TSubstitution - Missense
GDF6ENSG00000156466ENST00000287020p.P75Sc.223C>TSubstitution - Missense
SLX4IPENSG00000149346ENST00000334534p.V179Vc.537C>TSubstitution - coding silent
OPRK1ENSG00000082556ENST00000265572p.R156Cc.466C>TSubstitution - Missense
C2orf43ENSG00000118961ENST00000237822p.T264Tc.792A>GSubstitution - coding silent
FZD10ENSG00000111432ENST00000229030p.Q123Hc.369G>TSubstitution - Missense
N4BP2L1ENSG00000139597ENST00000380139p.N109Kc.327T>GSubstitution - Missense
CHRNA7ENSG00000175344ENST00000306901p.P348Pc.1044C>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.H4468Qc.13404C>GSubstitution - Missense
EPB41ENSG00000159023ENST00000349460p.V584Vc.1752A>TSubstitution - coding silent
LRRC27ENSG00000148814ENST00000368614p.H175Pc.524A>CSubstitution - Missense
ENST00000251757p.Q626Kc.1876C>ASubstitution - Missense
CD1BENSG00000158485ENST00000368168p.?c.981-6T>AUnknown
KIAA1731ENSG00000166004ENST00000411936p.K1224Nc.3672G>TSubstitution - Missense
NISCHENSG00000010322ENST00000488380p.A497Sc.1489G>TSubstitution - Missense
TAOK2ENSG00000149930ENST00000416441p.Q258fs*31c.773_774delAGDeletion - Frameshift
GPR107ENSG00000148358ENST00000372406p.?c.255+36_527-1085del6696Unknown
MUC4ENSG00000145113ENST00000463781p.H3757Hc.11271C>TSubstitution - coding silent
ENST00000405167p.D3757Dc.11271C>TSubstitution - coding silent
NRXN1ENSG00000179915ENST00000402717p.S783Cc.2348C>GSubstitution - Missense
EPDR1ENSG00000086289ENST00000559325p.T329Mc.986C>TSubstitution - Missense
MED15ENSG00000099917ENST00000292733p.A97Tc.289G>ASubstitution - Missense
CCT6AENSG00000146731ENST00000275603p.L384Vc.1150C>GSubstitution - Missense
DOCK4ENSG00000128512ENST00000437633p.?c.162+1G>TUnknown
NAALADL2ENSG00000177694ENST00000454872p.R680Rc.2038C>ASubstitution - coding silent
FAM26DENSG00000164451ENST00000368596p.C210Fc.629G>TSubstitution - Missense
STON1-GTF2A1LENSG00000068781ENST00000394754p.E178*c.532G>TSubstitution - Nonsense
LATENSG00000213658ENST00000395461p.D78Nc.232G>ASubstitution - Missense
IFT122ENSG00000163913ENST00000296266p.H1068Hc.3204C>TSubstitution - coding silent
ANK2ENSG00000145362ENST00000357077p.E3164Qc.9490G>CSubstitution - Missense
SEMA3AENSG00000075213ENST00000265362p.R552Lc.1655G>TSubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.R96Sc.288A>CSubstitution - Missense
OSBPL10ENSG00000144645ENST00000396556p.M138Ic.414G>CSubstitution - Missense
GRID2ENSG00000152208ENST00000282020p.Q726*c.2176C>TSubstitution - Nonsense
DEFB116ENSG00000215545ENST00000400549p.S77Ic.230G>TSubstitution - Missense
ENST00000356127p.P19175Hc.57524C>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.L11099Lc.33297G>ASubstitution - coding silent
SSUH2ENSG00000125046ENST00000341795p.D140Dc.420C>TSubstitution - coding silent
ENST00000445854p.Q486Ec.1456C>GSubstitution - Missense
SP6ENSG00000189120ENST00000342234p.G66Cc.196G>TSubstitution - Missense
ENST00000299564p.W486Lc.1457G>TSubstitution - Missense
ZNF561ENSG00000171469ENST00000354661p.G114Vc.341G>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.T1005Ac.3013A>GSubstitution - Missense
ARHGAP29ENSG00000137962ENST00000260526p.S528fs*3c.1582delTDeletion - Frameshift
FYBENSG00000082074ENST00000505428p.A340Ac.1020C>ASubstitution - coding silent
RHPN2ENSG00000131941ENST00000400226p.Y454fs*11c.1359_1360insAInsertion - Frameshift
TTNENSG00000155657ENST00000342992p.L17404Lc.52212G>ASubstitution - coding silent
BTN3A2ENSG00000186470ENST00000396948p.I237Ic.711C>TSubstitution - coding silent
HIPK2ENSG00000064393ENST00000406875p.G1184Vc.3551G>TSubstitution - Missense
CCDC57ENSG00000176155ENST00000389641p.Q486Ec.1456C>GSubstitution - Missense
TMPRSS2ENSG00000184012ENST00000454499p.Q276Rc.827A>GSubstitution - Missense
ATRNENSG00000088812ENST00000262919p.K749Nc.2247G>CSubstitution - Missense
DPYSL2ENSG00000092964ENST00000311151p.T177Mc.530C>TSubstitution - Missense
C20orf26ENSG00000089101ENST00000245957p.R619fs*43c.1853_1854insTInsertion - Frameshift
UNC79ENSG00000133958ENST00000553484p.T1703Ic.5108C>TSubstitution - Missense
DAB2ENSG00000153071ENST00000320816p.S310Sc.930G>TSubstitution - coding silent
ZFP1ENSG00000184517ENST00000393430p.Q66*c.196C>TSubstitution - Nonsense
CFHR5ENSG00000134389ENST00000256785p.T446Ac.1336A>GSubstitution - Missense
GJA5ENSG00000143140ENST00000369237p.E124Gc.371A>GSubstitution - Missense
CACNA1EENSG00000198216ENST00000367573p.L146Qc.437T>ASubstitution - Missense
ADAM30ENSG00000134249ENST00000369400p.I600Ic.1800A>TSubstitution - coding silent
CHRNA7ENSG00000175344ENST00000306901p.?c.991-5C>TUnknown
DNHD1ENSG00000179532ENST00000254579p.A4572Ac.13716G>ASubstitution - coding silent
PCNXL2ENSG00000135749ENST00000258229p.H1316Yc.3946C>TSubstitution - Missense
NTRK3ENSG00000140538ENST00000394480p.S165Nc.494G>ASubstitution - Missense
ADAMTSL3ENSG00000156218ENST00000286744p.L899Pc.2696T>CSubstitution - Missense
HYLS1ENSG00000198331ENST00000356438p.I10Vc.28A>GSubstitution - Missense
VWFENSG00000110799ENST00000261405p.H2787fs*>27c.8358delGDeletion - Frameshift
PFKMENSG00000152556ENST00000340802p.G125Vc.374G>TSubstitution - Missense
OR1C1ENSG00000221888ENST00000408896p.A156Sc.466G>TSubstitution - Missense
DOPEY1ENSG00000083097ENST00000237163p.?c.5676-9C>TUnknown
TPOENSG00000115705ENST00000337415p.T310Kc.929C>ASubstitution - Missense
SSUH2ENSG00000125046ENST00000544814p.D162Dc.486C>TSubstitution - coding silent
RBFOX1ENSG00000078328ENST00000547372p.P247Hc.740C>ASubstitution - Missense
LRRC66ENSG00000188993ENST00000343457p.A793Dc.2378C>ASubstitution - Missense
ENST00000334436p.E81*c.241G>TSubstitution - Nonsense
KMT2EENSG00000005483ENST00000257745p.?c.417-2A>GUnknown
COG5ENSG00000164597ENST00000297135p.G48Sc.142G>ASubstitution - Missense
SERPINI1ENSG00000163536ENST00000446050p.?c.677-4T>GUnknown
AMER1ENSG00000184675ENST00000330258p.R1047Mc.3140G>TSubstitution - Missense
UROC1ENSG00000159650ENST00000383579p.R280Lc.839G>TSubstitution - Missense
KLHL7ENSG00000122550ENST00000339077p.A121Ac.363A>CSubstitution - coding silent
LRRTM4ENSG00000176204ENST00000409088p.P277Pc.831C>GSubstitution - coding silent
P2RY12ENSG00000169313ENST00000302632p.A46Vc.137C>TSubstitution - Missense
ABCB5ENSG00000004846ENST00000404938p.S553Sc.1659T>ASubstitution - coding silent
NM_206943.1p.E629Kc.1885G>ASubstitution - Missense
PTNENSG00000105894ENST00000348225p.?c.289+9C>AUnknown
NM_022740p.G1184Vc.3551G>TSubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.S1054Sc.3162C>TSubstitution - coding silent
SPAG8ENSG00000137098ENST00000340291p.R256Rc.766C>ASubstitution - coding silent
TMPRSS9ENSG00000178297ENST00000332578p.S71Ic.212G>TSubstitution - Missense
HSPA12BENSG00000132622ENST00000254963p.P96Qc.287C>ASubstitution - Missense
ENST00000356127p.T1051Ac.3151A>GSubstitution - Missense
ITGA4ENSG00000115232ENST00000397033p.D610Ec.1830C>ASubstitution - Missense
KLF7ENSG00000118263ENST00000309446p.A190Dc.569C>ASubstitution - Missense
OGDHLENSG00000197444ENST00000374103p.E502Vc.1505A>TSubstitution - Missense
TBX3ENSG00000135111ENST00000257566p.R24Lc.71G>TSubstitution - Missense
DCLK1ENSG00000133083ENST00000255448p.V195Lc.583G>TSubstitution - Missense
EIF4BENSG00000063046ENST00000262056p.R401Gc.1201C>GSubstitution - Missense
TAS2R7ENSG00000121377ENST00000240687p.F88Lc.262T>CSubstitution - Missense
EPHA7ENSG00000135333ENST00000369303p.E46Kc.136G>ASubstitution - Missense
PPP1R3AENSG00000154415ENST00000284601p.V685Lc.2053G>TSubstitution - Missense
PPP1R3AENSG00000154415ENST00000284601p.L130Lc.388C>TSubstitution - coding silent
ABCA12ENSG00000144452ENST00000389661p.N42Nc.126C>TSubstitution - coding silent
HSPA5ENSG00000044574ENST00000324460p.R306Tc.917G>CSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
OR2B3ENSG00000204703ENST00000377173p.P53Hc.158C>ASubstitution - Missense
ELMO1ENSG00000155849ENST00000310758p.Y140Fc.419A>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000436393p.P15Qc.44C>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.S831Cc.2492C>GSubstitution - Missense
KIAA1462ENSG00000165757ENST00000375377p.E869Ec.2607G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.C135Fc.404G>TSubstitution - Missense
SPAG6ENSG00000077327ENST00000376603p.R448Lc.1343G>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.R768Lc.2303G>TSubstitution - Missense
PCNXL4ENSG00000126773ENST00000535349p.M136Ic.408G>TSubstitution - Missense
PDZRN3ENSG00000121440ENST00000535920p.T211Sc.631A>TSubstitution - Missense
LEPRENSG00000116678ENST00000371059p.I479fs*41c.1435delADeletion - Frameshift
GRM4ENSG00000124493ENST00000374177p.M140Ic.420G>ASubstitution - Missense
CDHR2ENSG00000074276ENST00000261944p.A360Dc.1079C>ASubstitution - Missense
DPP4ENSG00000197635ENST00000360534p.D96Yc.286G>TSubstitution - Missense
AGAP3ENSG00000133612ENST00000473312p.Q59fs*31c.166delGDeletion - Frameshift
ENST00000402998p.P273Qc.818C>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000406316p.D772Yc.2314G>TSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.G227Gc.681G>TSubstitution - coding silent
CACNA1IENSG00000100346ENST00000404898p.E1718Gc.5153A>GSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.S2626Yc.7877C>ASubstitution - Missense
BRD1ENSG00000100425ENST00000216267p.?c.2098+8C>AUnknown
TGM4ENSG00000163810ENST00000296125p.R155Sc.463C>ASubstitution - Missense
FREM3ENSG00000183090ENST00000329798p.S603Sc.1809C>ASubstitution - coding silent
CBFBENSG00000067955ENST00000412916p.R23Rc.69C>TSubstitution - coding silent
FAM65AENSG00000039523ENST00000379312p.V1061fs*7c.3181_3202del22Deletion - Frameshift
RGPD3ENSG00000153165ENST00000409886p.?c.1635-3T>GUnknown
RFPL1ENSG00000128250ENST00000354373p.A131Dc.392C>ASubstitution - Missense
NM_001451.1p.T98Tc.294C>ASubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.R768Lc.2303G>TSubstitution - Missense
TRPV6ENSG00000165125ENST00000359396p.?c.1896-6C>AUnknown
RFC1ENSG00000035928ENST00000381897p.K55Nc.165A>TSubstitution - Missense
TBC1D1ENSG00000065882ENST00000261439p.L1033Fc.3097C>TSubstitution - Missense
SPEF2ENSG00000152582ENST00000282469p.V15Vc.45G>TSubstitution - coding silent
BTBD8ENSG00000189195ENST00000342818p.K70Rc.209A>GSubstitution - Missense
FAM107BENSG00000065809ENST00000181796p.S158Ic.473G>TSubstitution - Missense
ZNF648ENSG00000179930ENST00000339948p.R487Hc.1460G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.E735Kc.2203G>ASubstitution - Missense
PHYHIPLENSG00000165443ENST00000373880p.E27*c.79G>TSubstitution - Nonsense
IFT140ENSG00000187535ENST00000426508p.E468Kc.1402G>ASubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.V3428Mc.10282G>ASubstitution - Missense
FGFR2ENSG00000066468ENST00000358487p.G89Vc.266G>TSubstitution - Missense
RHCGENSG00000140519ENST00000268122p.V72Lc.214G>TSubstitution - Missense
SLC15A5ENSG00000188991ENST00000344941p.A389Vc.1166C>TSubstitution - Missense
PTPRKENSG00000152894ENST00000368227p.W1277Rc.3829T>CSubstitution - Missense
DNAH6ENSG00000115423ENST00000398278p.M512Lc.1534A>CSubstitution - Missense
TPOENSG00000115705ENST00000337415p.?c.2519-9G>TUnknown
EPB41L3ENSG00000082397ENST00000544123p.A421Ac.1263G>TSubstitution - coding silent
SGCDENSG00000170624ENST00000447401p.L77Ic.229C>ASubstitution - Missense
NPY1RENSG00000164128ENST00000296533p.S123Sc.369A>TSubstitution - coding silent
XIRP2ENSG00000163092ENST00000295237p.L1872Ic.5614C>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.R2721Cc.8161C>TSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.A407Sc.1219G>TSubstitution - Missense
ENST00000316490p.N3283Ic.9848A>TSubstitution - Missense
FIGNL1ENSG00000132436ENST00000395556p.W666Cc.1998G>TSubstitution - Missense
ENST00000328088p.L353Fc.1057C>TSubstitution - Missense
TTC14ENSG00000163728ENST00000382584p.E511*c.1531G>TSubstitution - Nonsense
PDCD10ENSG00000114209ENST00000392750p.Q42Hc.126G>CSubstitution - Missense
STON1ENSG00000243244ENST00000309835p.E178*c.532G>TSubstitution - Nonsense
ARHGAP28ENSG00000088756ENST00000400091p.W533Lc.1598G>TSubstitution - Missense
NUDT16ENSG00000198585ENST00000521288p.H21Qc.63T>ASubstitution - Missense
SLC12A9ENSG00000146828ENST00000540482p.W627Cc.1881G>TSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.P3370Hc.10109C>ASubstitution - Missense
SU_SPEGp.T1098Ac.3292A>GSubstitution - Missense
CXorf67ENSG00000187690ENST00000342995p.G31Gc.93G>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.I19974Fc.59920A>TSubstitution - Missense
OTOFENSG00000115155ENST00000402415p.G793Dc.2378G>ASubstitution - Missense
GAS7ENSG00000007237ENST00000580865p.E161*c.481G>TSubstitution - Nonsense
MICAL3ENSG00000243156ENST00000441493p.E576Dc.1728G>TSubstitution - Missense
HDAC4ENSG00000068024ENST00000345617p.E519*c.1555G>TSubstitution - Nonsense
MYH4ENSG00000264424ENST00000255381p.Q1350Rc.4049A>GSubstitution - Missense
DCCENSG00000187323ENST00000442544p.P423Tc.1267C>ASubstitution - Missense
ENST00000356127p.R28844Gc.86530A>GSubstitution - Missense
CES1ENSG00000198848ENST00000360526p.A244Ac.732C>ASubstitution - coding silent
KRTAP13-4ENSG00000186971ENST00000334068p.S84Yc.251C>ASubstitution - Missense
BTN3A2ENSG00000186470ENST00000396948p.A238Sc.712G>TSubstitution - Missense
RNF213ENSG00000173821ENST00000336301p.Y2403Yc.7209C>TSubstitution - coding silent
RUFY3ENSG00000018189ENST00000381006p.?c.1457+10G>CUnknown
SLC26A7ENSG00000147606ENST00000309536p.M483Ic.1449G>CSubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.E429Kc.1285G>ASubstitution - Missense
CCDC175ENSG00000151838ENST00000281581p.I674Tc.2021T>CSubstitution - Missense
MROH2BENSG00000171495ENST00000399564p.L845Mc.2533C>ASubstitution - Missense
XM_290898p.R170Qc.509G>ASubstitution - Missense
PTPRBENSG00000127329ENST00000334414p.D1489Yc.4465G>TSubstitution - Missense
WACENSG00000095787ENST00000354911p.A590Tc.1768G>ASubstitution - Missense
ENST00000417177p.E735Kc.2203G>ASubstitution - Missense
MTMR11ENSG00000014914ENST00000439741p.A164Gc.491C>GSubstitution - Missense
WDR65ENSG00000243710ENST00000528956p.W136*c.408G>ASubstitution - Nonsense
MKI67ENSG00000148773ENST00000368654p.Q1619Pc.4856A>CSubstitution - Missense
CIB2ENSG00000136425ENST00000258930p.G162Dc.485G>ASubstitution - Missense
TBC1D12ENSG00000108239ENST00000225235p.V489Ic.1465G>ASubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.T518Nc.1553C>ASubstitution - Missense
ENST00000310771p.N100Sc.299A>GSubstitution - Missense
ENST00000356127p.P6Pc.18G>ASubstitution - coding silent
LMX1BENSG00000136944ENST00000373474p.?c.819+4A>GUnknown
NFATC4ENSG00000100968ENST00000555453p.?c.1161-5C>AUnknown
CHRNA7ENSG00000175344ENST00000454250p.?c.1078-5C>TUnknown
OR8K3ENSG00000181689ENST00000312711p.V223Ec.668T>ASubstitution - Missense
ARHGEF2ENSG00000116584ENST00000361247p.G931Ec.2792G>ASubstitution - Missense
PALLDENSG00000129116ENST00000508898p.E120Kc.358G>ASubstitution - Missense
FER1L6ENSG00000214814ENST00000399018p.P814Sc.2440C>TSubstitution - Missense
DLC1ENSG00000164741ENST00000276297p.C1106Yc.3317G>ASubstitution - Missense
FBXO32ENSG00000156804ENST00000517956p.H257Lc.770A>TSubstitution - Missense
RBPJLENSG00000124232ENST00000343694p.G363Cc.1087G>TSubstitution - Missense
PSG1ENSG00000231924ENST00000244296p.P158Hc.473C>ASubstitution - Missense
CEACAM3ENSG00000170956ENST00000357396p.A134Tc.400G>ASubstitution - Missense
SCN2AENSG00000136531ENST00000375437p.R574Rc.1722G>ASubstitution - coding silent
TBRG4ENSG00000136270ENST00000258770p.R574Rc.1722A>TSubstitution - coding silent
NRXN1ENSG00000179915ENST00000404971p.V1043Ic.3127G>ASubstitution - Missense
LAMA4ENSG00000112769ENST00000389463p.L1412Sc.4235T>CSubstitution - Missense
ATAD2ENSG00000156802ENST00000287394p.V570Ic.1708G>ASubstitution - Missense
GRID2IPENSG00000215045ENST00000457091p.I745Ic.2235C>ASubstitution - coding silent
STYXL1ENSG00000127952ENST00000359697p.G203Dc.608G>ASubstitution - Missense
ADAMTS12ENSG00000151388ENST00000515401p.E186*c.556G>TSubstitution - Nonsense
SEC24DENSG00000150961ENST00000280551p.R692Sc.2076G>TSubstitution - Missense
LRRTM4ENSG00000176204ENST00000409911p.R166Ic.497G>TSubstitution - Missense
POTEDENSG00000166351ENST00000299443p.T582Nc.1745C>ASubstitution - Missense
CCT8L2ENSG00000198445ENST00000359963p.A418Vc.1253C>TSubstitution - Missense
FAM83HENSG00000180921ENST00000388913p.G913Sc.2737G>ASubstitution - Missense
C8orf34ENSG00000165084ENST00000337103p.P415Lc.1244C>TSubstitution - Missense
ATP10DENSG00000145246ENST00000273859p.K1370Rc.4109A>GSubstitution - Missense
JAK2ENSG00000096968ENST00000381652p.V41Vc.123G>TSubstitution - coding silent
RBFOX1ENSG00000078328ENST00000311745p.P224Hc.671C>ASubstitution - Missense
MAGI3ENSG00000081026ENST00000369615p.?c.1171+1G>TUnknown
CACNA1EENSG00000198216ENST00000367570p.L146Qc.437T>ASubstitution - Missense
KMT2AENSG00000118058ENST00000534358p.G3902Vc.11705G>TSubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.?c.490-1G>TUnknown
C1orf94ENSG00000142698ENST00000373374p.P353Tc.1057C>ASubstitution - Missense
GFRA1ENSG00000151892ENST00000369236p.S423Sc.1269C>GSubstitution - coding silent
FANK1ENSG00000203780ENST00000368693p.W216Lc.647G>TSubstitution - Missense
ENST00000368148p.W491Lc.1472G>TSubstitution - Missense
PCDHA3ENSG00000255408ENST00000522353p.A278Tc.832G>ASubstitution - Missense
LMO7ENSG00000136153ENST00000341547p.G224Sc.670G>ASubstitution - Missense
RDH12ENSG00000139988ENST00000267502p.D138Nc.412G>ASubstitution - Missense
ATN1ENSG00000111676ENST00000396684p.P874Sc.2620C>TSubstitution - Missense
MTMR11ENSG00000014914ENST00000369140p.A92Gc.275C>GSubstitution - Missense
CHRNA7ENSG00000175344ENST00000437966p.P258Pc.774C>TSubstitution - coding silent
ENST00000251757p.Q626Lc.1877A>TSubstitution - Missense
FGFR2ENSG00000066468ENST00000457416p.G89Vc.266G>TSubstitution - Missense
ZFC3H1ENSG00000133858ENST00000378743p.V1560Lc.4678G>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.A1668Ac.5004C>ASubstitution - coding silent
PDZRN3ENSG00000121440ENST00000263666p.T489Sc.1465A>TSubstitution - Missense
PXDNENSG00000130508ENST00000252804p.R70Hc.209G>ASubstitution - Missense
OR5D14ENSG00000186113ENST00000335605p.H198Hc.594C>TSubstitution - coding silent
XIRP2ENSG00000163092ENST00000295237p.L2043Lc.6129T>GSubstitution - coding silent
ZSWIM6ENSG00000130449ENST00000252744p.L1082Fc.3244C>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000514591p.H1344Dc.4030C>GSubstitution - Missense
ENST00000316490_v65p.N3331Ic.9992A>TSubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.R2342Mc.7025G>TSubstitution - Missense
ENST00000368597_v68p.C24Fc.71G>TSubstitution - Missense
IL21RENSG00000103522ENST00000395754p.W264Lc.791G>TSubstitution - Missense
GRID2IPENSG00000215045ENST00000457091p.I745Ic.2235C>ASubstitution - coding silent
MUC17ENSG00000169876ENST00000306151p.T3349Sc.10045A>TSubstitution - Missense
TAOK2ENSG00000149930ENST00000279394p.Q431Pc.1292A>CSubstitution - Missense
FAM65AENSG00000039523ENST00000379312p.L211Lc.633C>GSubstitution - coding silent
BBS7ENSG00000138686ENST00000264499p.?c.2014+1G>AUnknown
CDH12ENSG00000154162ENST00000382254p.G676Vc.2027G>TSubstitution - Missense
ZNF324BENSG00000249471ENST00000336614p.P517Pc.1551G>TSubstitution - coding silent
MFSD9ENSG00000135953ENST00000258436p.A39Dc.116C>ASubstitution - Missense
IL17REENSG00000163701ENST00000454190p.A62Sc.184G>TSubstitution - Missense
TBCKENSG00000145348ENST00000273980p.R800Rc.2400G>TSubstitution - coding silent
FPR3ENSG00000187474ENST00000339223p.V219Vc.657C>GSubstitution - coding silent
SU_Erk7p.A314Vc.941C>TSubstitution - Missense
FAM83HENSG00000180921ENST00000388913p.G913Gc.2739T>CSubstitution - coding silent
FLNBENSG00000136068ENST00000295956p.V467Ic.1399G>ASubstitution - Missense
RPS6KA5ENSG00000100784ENST00000261991p.A590Vc.1769C>TSubstitution - Missense
UNC79ENSG00000133958ENST00000256339p.T1504Ic.4511C>TSubstitution - Missense
TLN2ENSG00000171914ENST00000306829p.G44Vc.131G>TSubstitution - Missense
FYBENSG00000082074ENST00000512982p.A340Ac.1020C>ASubstitution - coding silent
AKAP6ENSG00000151320ENST00000280979p.I1711Fc.5131A>TSubstitution - Missense
LHX9ENSG00000143355ENST00000367390p.A309Sc.925G>TSubstitution - Missense
TPCN1ENSG00000186815ENST00000550785p.N156Nc.468C>TSubstitution - coding silent
ENST00000438990p.A141Pc.421G>CSubstitution - Missense
TECTBENSG00000119913ENST00000369422p.?c.907+7G>TUnknown
TAS2R7ENSG00000121377ENST00000240687p.Y248Sc.743A>CSubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.M828Ic.2484G>ASubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.R2396Qc.7187G>ASubstitution - Missense
DCCENSG00000187323ENST00000412726p.P271Tc.811C>ASubstitution - Missense
PPP1R3AENSG00000154415ENST00000284601p.E929*c.2785G>TSubstitution - Nonsense
CHRNA7ENSG00000175344ENST00000454250p.P377Pc.1131C>TSubstitution - coding silent
SCN1AENSG00000144285ENST00000423058p.I538Tc.1613T>CSubstitution - Missense
PSG1ENSG00000231924ENST00000436291p.P158Hc.473C>ASubstitution - Missense
MPHOSPH9ENSG00000051825ENST00000302349p.E892Dc.2676A>TSubstitution - Missense
PARLENSG00000175193ENST00000317096p.P186Lc.557C>TSubstitution - Missense
KIF5CENSG00000168280ENST00000435030p.E178*c.532G>TSubstitution - Nonsense
CCDC148ENSG00000153237ENST00000283233p.W374fs*8c.1122delGDeletion - Frameshift
LRP12ENSG00000147650ENST00000276654p.A155Sc.463G>TSubstitution - Missense
ATP2B3ENSG00000067842ENST00000370186p.P130Rc.389C>GSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.G2638fs*59c.7913delGDeletion - Frameshift
TTC37ENSG00000198677ENST00000358746p.M467Ic.1401G>TSubstitution - Missense
LSAMPENSG00000185565ENST00000490035p.Q234Kc.700C>ASubstitution - Missense
GSK3BENSG00000082701ENST00000316626p.A410Vc.1229C>TSubstitution - Missense
SATL1ENSG00000184788ENST00000509231p.S395Rc.1185C>ASubstitution - Missense
ASB18ENSG00000182177ENST00000409749p.R439Mc.1316G>TSubstitution - Missense
GRID2ENSG00000152208ENST00000282020p.S725Sc.2175C>ASubstitution - coding silent
HELZ2ENSG00000130589ENST00000467148p.S1890Rc.5670C>GSubstitution - Missense
NM_206943.1p.A1418Sc.4252G>TSubstitution - Missense
RUNDC3BENSG00000105784ENST00000338056p.L336Qc.1007T>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.G648Ac.1943G>CSubstitution - Missense
ACVR2BENSG00000114739ENST00000352511p.G147Gc.441G>TSubstitution - coding silent
CNTN4ENSG00000144619ENST00000397459p.C9Fc.26G>TSubstitution - Missense
BBS12ENSG00000181004ENST00000314218p.N71Nc.213T>CSubstitution - coding silent
ENST00000316893p.?c.4395-7C>TUnknown
LTBP1ENSG00000049323ENST00000407925p.A1091Sc.3271G>TSubstitution - Missense
PASKENSG00000115687ENST00000234040p.W927Cc.2781G>TSubstitution - Missense
ANKRD44ENSG00000065413ENST00000409153p.L292Fc.876A>CSubstitution - Missense
MYH13ENSG00000006788ENST00000252172p.K1620Kc.4860G>ASubstitution - coding silent
TM9SF4ENSG00000101337ENST00000398022p.A4Vc.11C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.R28846Gc.86536A>GSubstitution - Missense
NM_003319p.G19057Vc.57170G>TSubstitution - Missense
INSL6ENSG00000120210ENST00000381641p.A89Ac.267C>TSubstitution - coding silent
NM_003319p.T1005Ac.3013A>GSubstitution - Missense
ENST00000246101p.L30Ic.88C>ASubstitution - Missense
ENST00000356127p.?c.18509-4A>GUnknown
PCNXL4ENSG00000126773ENST00000404681p.M695Ic.2085G>TSubstitution - Missense
RBFOX1ENSG00000078328ENST00000355637p.P224Hc.671C>ASubstitution - Missense
DENND5BENSG00000170456ENST00000389082p.G763Rc.2287G>CSubstitution - Missense
LEO1ENSG00000166477ENST00000299601p.?c.1341-3C>TUnknown
OR4M2ENSG00000182974ENST00000332663p.V145Vc.435G>ASubstitution - coding silent
PRKCZENSG00000067606ENST00000378567p.?c.283+10G>AUnknown
FGF3ENSG00000186895ENST00000334134p.E150Dc.450G>TSubstitution - Missense
STARD5ENSG00000172345ENST00000302824p.W40*c.119G>ASubstitution - Nonsense
NYNRINENSG00000205978ENST00000382554p.D217Yc.649G>TSubstitution - Missense
PEAR1ENSG00000187800ENST00000338302p.R966Mc.2897G>TSubstitution - Missense
CCDC33ENSG00000140481ENST00000321288p.A489Vc.1466C>TSubstitution - Missense
TBRG1ENSG00000154144ENST00000284290p.M1Tc.2T>CSubstitution - Missense
SPATA20ENSG00000006282ENST00000006658p.R511Wc.1531C>TSubstitution - Missense
MICAL1ENSG00000135596ENST00000368952p.L146Fc.436C>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000402717p.V995Ic.2983G>ASubstitution - Missense
APBB1ENSG00000166313ENST00000389906p.G55Vc.164G>TSubstitution - Missense
TAOK2ENSG00000149930ENST00000308893p.A1047Vc.3140C>TSubstitution - Missense
SMC6ENSG00000163029ENST00000381272p.M1Ic.3G>TSubstitution - Missense
OR4P4ENSG00000181927ENST00000314612p.Y33Yc.99C>TSubstitution - coding silent
LRRC27ENSG00000148814ENST00000368610p.H113Pc.338A>CSubstitution - Missense
LRRC27ENSG00000148814ENST00000432555p.H48Pc.143A>CSubstitution - Missense
GRM4ENSG00000124493ENST00000374181p.M209Ic.627G>ASubstitution - Missense
SCN2AENSG00000136531ENST00000375437p.L1637Lc.4911A>GSubstitution - coding silent
HLA-FENSG00000204642ENST00000259951p.A317Ac.951T>CSubstitution - coding silent
COG8ENSG00000213380ENST00000306875p.G112Dc.335G>ASubstitution - Missense
NLE1ENSG00000073536ENST00000442241p.N213Sc.638A>GSubstitution - Missense
KRBA1ENSG00000133619ENST00000255992p.P673Pc.2019C>TSubstitution - coding silent
COL14A1ENSG00000187955ENST00000297848p.D1148Nc.3442G>ASubstitution - Missense
ANO10ENSG00000160746ENST00000292246p.R310*c.928A>TSubstitution - Nonsense
SEMA5AENSG00000112902ENST00000382496p.R401Hc.1202G>ASubstitution - Missense
SLC9A9ENSG00000181804ENST00000316549p.L384Pc.1151T>CSubstitution - Missense
STARD8ENSG00000130052ENST00000374599p.V921Lc.2761G>TSubstitution - Missense
SNED1ENSG00000162804ENST00000310397p.R879Lc.2636G>TSubstitution - Missense
SHCBP1ENSG00000171241ENST00000303383p.S96Fc.287C>TSubstitution - Missense
C16orf71ENSG00000166246ENST00000299320p.W166Rc.496T>ASubstitution - Missense
SONENSG00000159140ENST00000356577p.V424Lc.1270G>TSubstitution - Missense
ADAMTS5ENSG00000154736ENST00000284987p.W124Cc.372G>TSubstitution - Missense
YIPF7ENSG00000177752ENST00000332990p.G161fs*18c.482delGDeletion - Frameshift
MMP16ENSG00000156103ENST00000286614p.A566Tc.1696G>ASubstitution - Missense
ENST00000354677p.L88Fc.264A>TSubstitution - Missense
KLF7ENSG00000118263ENST00000309446p.A190Ac.570T>ASubstitution - coding silent
PREX2ENSG00000046889ENST00000288368p.L88Fc.264A>TSubstitution - Missense
IFT88ENSG00000032742ENST00000319980p.A637Sc.1909G>TSubstitution - Missense
HOXB13ENSG00000159184ENST00000290295p.R267Lc.800G>TSubstitution - Missense
PCNXL4ENSG00000126773ENST00000406854p.M929Ic.2787G>TSubstitution - Missense
TSPAN11ENSG00000110900ENST00000261177p.T210Tc.630C>ASubstitution - coding silent
ATG2BENSG00000066739ENST00000359933p.?c.2736+9G>AUnknown
LPHN3ENSG00000150471ENST00000507625p.H1403Dc.4207C>GSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.H4474Qc.13422C>GSubstitution - Missense
OR8H1ENSG00000181693ENST00000313022p.L245Sc.734T>CSubstitution - Missense
FER1L6ENSG00000214814ENST00000399018p.L1633Fc.4899G>TSubstitution - Missense
TCTE1ENSG00000146221ENST00000371505p.?c.1297-3C>AUnknown
WDR17ENSG00000150627ENST00000280190p.V840Fc.2518G>TSubstitution - Missense
GALNT7ENSG00000109586ENST00000265000p.W220Lc.659G>TSubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.G1048Rc.3142G>ASubstitution - Missense
MTM1ENSG00000171100ENST00000370396p.L75fs*5c.224_230delTGGAAACDeletion - Frameshift
AFF2ENSG00000155966ENST00000286437p.?c.52-1G>TUnknown
SCN2AENSG00000136531ENST00000375427p.L1637Lc.4911A>GSubstitution - coding silent
FSHRENSG00000170820ENST00000406846p.I550Vc.1648A>GSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.L981Ic.2941C>ASubstitution - Missense
NM_133638.1p.K911Ec.2731A>GSubstitution - Missense
ENST00000272666p.T1627Pc.4879A>CSubstitution - Missense
KLHL29ENSG00000119771ENST00000486442p.V193Lc.577G>TSubstitution - Missense
FAM65AENSG00000039523ENST00000042381p.L207Lc.621C>GSubstitution - coding silent
OR2Y1ENSG00000174339ENST00000307832p.R172Rc.514C>ASubstitution - coding silent
ADGBENSG00000118492ENST00000397944p.R1519Rc.4555C>ASubstitution - coding silent
KLHL7ENSG00000122550ENST00000322231p.A99Ac.297A>CSubstitution - coding silent
IL17REENSG00000163701ENST00000383814p.A62Sc.184G>TSubstitution - Missense
ENST00000398617p.K161fs*>6c.483delADeletion - Frameshift
NM_003319p.P12680Hc.38039C>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.D5053Ec.15159T>ASubstitution - Missense
KRTAP4-16PENSG00000241241ENST00000440582p.P171fs*37c.502_503ins26Insertion - Frameshift
ENST00000434864p.R12Qc.35G>ASubstitution - Missense
SETBP1ENSG00000152217ENST00000282030p.G493Rc.1477G>CSubstitution - Missense
MTF2ENSG00000143033ENST00000370298p.Q415*c.1243C>TSubstitution - Nonsense
LEPRENSG00000116678ENST00000349533p.W132Cc.396G>TSubstitution - Missense
LEPRENSG00000116678ENST00000371060p.W132Cc.396G>TSubstitution - Missense
KIF16BENSG00000089177ENST00000408042p.?c.348+8G>TUnknown
KIAA0586ENSG00000100578ENST00000261244p.Y122Fc.365A>TSubstitution - Missense
RPL10LENSG00000165496ENST00000298283p.M115Ic.345G>TSubstitution - Missense
LAMC2ENSG00000058085ENST00000264144p.P227Sc.679C>TSubstitution - Missense
SPAG6ENSG00000077327ENST00000376603p.Q279Kc.835C>ASubstitution - Missense
ENST00000293924p.?c.629-4G>AUnknown
ARRDC4ENSG00000140450ENST00000268042p.T191Nc.572C>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.K1519Nc.4557G>TSubstitution - Missense
NM_004667.3p.?c.7886-3T>CUnknown
TDRD1ENSG00000095627ENST00000251864p.R518fs*60c.1551delCDeletion - Frameshift
SLC4A8ENSG00000050438ENST00000394856p.A747Ec.2240C>ASubstitution - Missense
LYSTENSG00000143669ENST00000389793p.L620Fc.1860G>TSubstitution - Missense
RB1ENSG00000139687ENST00000267163p.T909_R910delTRc.2722_2727delCGAACADeletion - In frame
UBE4BENSG00000130939ENST00000377153p.A88Vc.263C>TSubstitution - Missense
SMARCA4ENSG00000127616ENST00000429416p.G1232Dc.3695G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.P6Pc.18G>ASubstitution - coding silent
CACNA1EENSG00000198216ENST00000357570p.L97Qc.290T>ASubstitution - Missense
ZNF181ENSG00000197841ENST00000392232p.L461Fc.1381C>TSubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.?c.8406+8G>TUnknown
NCSTNENSG00000162736ENST00000368063p.R212Qc.635G>ASubstitution - Missense
PGRENSG00000082175ENST00000325455p.P555Qc.1664C>ASubstitution - Missense
CHRDENSG00000090539ENST00000204604p.R239Qc.716G>ASubstitution - Missense
MYCNENSG00000134323ENST00000281043p.R394Sc.1180C>ASubstitution - Missense
PSG1ENSG00000231924ENST00000312439p.P158Hc.473C>ASubstitution - Missense
SUPT5HENSG00000196235ENST00000359191p.P388Pc.1164A>TSubstitution - coding silent
VSTM2AENSG00000170419ENST00000407838p.G78Gc.234G>ASubstitution - coding silent
RIMS2ENSG00000176406ENST00000507740p.P45Qc.134C>ASubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.T980Ic.2939C>TSubstitution - Missense
PCDHB4ENSG00000081818ENST00000194152p.P495Pc.1485G>ASubstitution - coding silent
NRXN1ENSG00000179915ENST00000404971p.D812Yc.2434G>TSubstitution - Missense
PCDHGC4ENSG00000242419ENST00000306593p.L697Vc.2089C>GSubstitution - Missense
FBXO11ENSG00000138081ENST00000402508p.G337*c.1009G>TSubstitution - Nonsense
SLC24A2ENSG00000155886ENST00000341998p.S22Yc.65C>ASubstitution - Missense
VPS54ENSG00000143952ENST00000272322p.?c.2423-8A>TUnknown


COSMIC

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