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

SW 48 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

4766 mutations reported
1549 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
FYNENSG00000010810ENST00000354650p.Y515Cc.1544A>GSubstitution - Missense
EDN1ENSG00000078401ENST00000379375p.K154fs*7c.457delADeletion - Frameshift
ROS1ENSG00000047936ENST00000368508p.Q249Qc.747G>ASubstitution - coding silent
SERPINB2ENSG00000197632ENST00000299502p.K313Rc.938A>GSubstitution - Missense
CASTENSG00000153113ENST00000309190p.?c.1722+3_1722+14delaaaaaaaaaaaaUnknown
POLKENSG00000122008ENST00000241436p.H105Yc.313C>TSubstitution - Missense
PNPLA1ENSG00000180316ENST00000394571p.A355Sc.1063G>TSubstitution - Missense
NM_004224.1p.I130Ic.390C>TSubstitution - coding silent
SNAP91ENSG00000065609ENST00000369694p.K238Kc.714A>GSubstitution - coding silent
GHSRENSG00000121853ENST00000427970p.R199Hc.596G>ASubstitution - Missense
OTOL1ENSG00000182447ENST00000327928p.I69Ic.207T>CSubstitution - coding silent
HEATR6ENSG00000068097ENST00000184956p.K1111Rc.3332A>GSubstitution - Missense
ENST00000299377p.N79Sc.236A>GSubstitution - Missense
HNRNPLLENSG00000143889ENST00000409636p.V100Ac.299T>CSubstitution - Missense
MAB21L2ENSG00000181541ENST00000317605p.L279Lc.835C>TSubstitution - coding silent
SORBS2ENSG00000154556ENST00000418609p.E948fs*>57c.2842delGDeletion - Frameshift
FBXW7ENSG00000109670ENST00000281708p.L152Lc.456G>ASubstitution - coding silent
POU6F2ENSG00000106536ENST00000403058p.A624Vc.1871C>TSubstitution - Missense
PSMA2ENSG00000106588ENST00000223321p.S9Sc.27G>ASubstitution - coding silent
DDR1ENSG00000204580ENST00000418800p.I647Tc.1940T>CSubstitution - Missense
FIGNL1ENSG00000132436ENST00000395556p.F670fs*>5c.2010delTDeletion - Frameshift
ENST00000319379p.T199Tc.597C>TSubstitution - coding silent
CCNFENSG00000162063ENST00000397066p.A138Tc.412G>ASubstitution - Missense
TOP1ENSG00000198900ENST00000361337p.W754Cc.2262G>TSubstitution - Missense
ZEB2ENSG00000169554ENST00000303660p.G1051Gc.3153C>TSubstitution - coding silent
DPP4ENSG00000197635ENST00000360534p.G428Gc.1284A>GSubstitution - coding silent
PLCXD2ENSG00000240891ENST00000477665p.K93Kc.279G>ASubstitution - coding silent
DLC1ENSG00000164741ENST00000276297p.R617fs*37c.1849delCDeletion - Frameshift
AGO2ENSG00000123908ENST00000220592p.P415Lc.1244C>TSubstitution - Missense
TKTL2ENSG00000151005ENST00000280605p.R356Gc.1066A>GSubstitution - Missense
NUP214ENSG00000126883ENST00000359428p.T299Mc.896C>TSubstitution - Missense
MAP3K13ENSG00000073803ENST00000424227p.S649Sc.1947C>ASubstitution - coding silent
TPRG1ENSG00000188001ENST00000345063p.?c.303-6C>AUnknown
DDX60LENSG00000181381ENST00000260184p.L1113fs*38c.3338delTDeletion - Frameshift
PSMG4ENSG00000180822ENST00000324987p.A105Ac.315G>ASubstitution - coding silent
C3orf67ENSG00000163689ENST00000482387p.N216Sc.647A>GSubstitution - Missense
NR4A1ENSG00000123358ENST00000545748p.S133Sc.399C>ASubstitution - coding silent
ATF7IPENSG00000171681ENST00000543189p.?c.1993-1G>AUnknown
ABLIM2ENSG00000163995ENST00000361737p.P115Lc.344C>TSubstitution - Missense
MCM3ENSG00000112118ENST00000596288p.A107Tc.319G>ASubstitution - Missense
DLG2ENSG00000150672ENST00000418306p.P239Lc.716C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.A2049Vc.6146C>TSubstitution - Missense
ENST00000318301p.R212Wc.634C>TSubstitution - Missense
KCNK13ENSG00000152315ENST00000282146p.P192Lc.575C>TSubstitution - Missense
NM_003319p.T996Ic.2987C>TSubstitution - Missense
NCOA6ENSG00000198646ENST00000374796p.S1081Ic.3242G>TSubstitution - Missense
MMP24ENSG00000125966ENST00000246186p.P248Hc.743C>ASubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.V16Ac.47T>CSubstitution - Missense
DOT1LENSG00000104885ENST00000398665p.S1083Ic.3248G>TSubstitution - Missense
GNA15ENSG00000060558ENST00000262958p.R337*c.1009C>TSubstitution - Nonsense
ERCC6L2ENSG00000182150ENST00000407474p.L489Lc.1465C>TSubstitution - coding silent
AFMIDENSG00000183077ENST00000327898p.K17delKc.45_47delGAADeletion - In frame
ENST00000311926p.N130Nc.390C>TSubstitution - coding silent
GPRASP1ENSG00000198932ENST00000415986p.E354fs*17c.1054delADeletion - Frameshift
PCP2ENSG00000174788ENST00000311069p.H32Hc.96C>TSubstitution - coding silent
ADCY7ENSG00000121281ENST00000394697p.?c.538-5C>TUnknown
ADAMTS3ENSG00000156140ENST00000286657p.P513Pc.1539C>ASubstitution - coding silent
AATKENSG00000181409ENST00000326724p.E942Kc.2824G>ASubstitution - Missense
ENST00000005905p.S1846Nc.5537G>ASubstitution - Missense
PITPNM3ENSG00000091622ENST00000262483p.H575Hc.1725C>TSubstitution - coding silent
SCN4AENSG00000007314ENST00000435607p.T1193Ic.3578C>TSubstitution - Missense
ACEENSG00000159640ENST00000290866p.Q384Qc.1152G>ASubstitution - coding silent
BPTFENSG00000171634ENST00000306378p.A2778Vc.8333C>TSubstitution - Missense
CHRNA2ENSG00000120903ENST00000407991p.N351Nc.1053T>CSubstitution - coding silent
ENST00000398670p.A2Tc.4G>ASubstitution - Missense
NDEL1ENSG00000166579ENST00000334527p.L341Lc.1023G>ASubstitution - coding silent
KRT31ENSG00000094796ENST00000251645p.?c.589-9C>AUnknown
C4orf26ENSG00000174792ENST00000435974p.S159fs*>18c.468delADeletion - Frameshift
SPG7ENSG00000197912ENST00000268704p.Y195Yc.585C>TSubstitution - coding silent
SNAI3ENSG00000185669ENST00000332281p.S260Sc.780A>GSubstitution - coding silent
PGAP1ENSG00000197121ENST00000354764p.V827Vc.2481A>TSubstitution - coding silent
TMEM131ENSG00000075568ENST00000186436p.?c.5368-3C>TUnknown
TSGA10ENSG00000135951ENST00000355053p.R411Wc.1231C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.I16206Mc.48618A>GSubstitution - Missense
NM_003319p.I16081Mc.48243A>GSubstitution - Missense
XKR3ENSG00000172967ENST00000331428p.S18Yc.53C>ASubstitution - Missense
RPL34ENSG00000109475ENST00000394665p.*118fs?c.353delADeletion - Frameshift
USP11ENSG00000102226ENST00000218348p.V378Mc.1132G>ASubstitution - Missense
IL17RCENSG00000163702ENST00000295981p.T135Tc.405G>ASubstitution - coding silent
ALKENSG00000171094ENST00000389048p.P1543Sc.4627C>TSubstitution - Missense
TTC28ENSG00000100154ENST00000397906p.L890Lc.2670G>TSubstitution - coding silent
ZNF665ENSG00000197497ENST00000396424p.C432Cc.1296T>CSubstitution - coding silent
PRR14LENSG00000183530ENST00000397493p.K1310Nc.3930A>TSubstitution - Missense
NM_004726.1p.R91Rc.273G>ASubstitution - coding silent
SYTL3ENSG00000164674ENST00000360448p.T295Ic.884C>TSubstitution - Missense
GFM1ENSG00000168827ENST00000486715p.?c.2071-1G>AUnknown
MYOZ2ENSG00000172399ENST00000307128p.R234Rc.702G>ASubstitution - coding silent
ESRP2ENSG00000103067ENST00000473183p.T234Tc.702G>ASubstitution - coding silent
SH3RF3ENSG00000172985ENST00000309415p.P657fs*53c.1966delCDeletion - Frameshift
ZNF705AENSG00000196946ENST00000402465p.S302Sc.906T>CSubstitution - coding silent
RNMTL1ENSG00000171861ENST00000304478p.S396Sc.1188C>TSubstitution - coding silent
PRICKLE4ENSG00000124593ENST00000335515p.P46Hc.137C>ASubstitution - Missense
FAM161AENSG00000170264ENST00000404929p.S443Sc.1329A>GSubstitution - coding silent
INPP5DENSG00000168918ENST00000359570p.C672Yc.2015G>ASubstitution - Missense
RABL2AENSG00000144134ENST00000393167p.?c.217+7G>AUnknown
SU_SK681p.N221fs*16c.662_663insAAInsertion - Frameshift
ENST00000359737p.D162fs*27c.484delGDeletion - Frameshift
ENST00000300959p.G146Rc.436G>ASubstitution - Missense
CNTN6ENSG00000134115ENST00000446702p.G733Gc.2199A>CSubstitution - coding silent
POPDC2ENSG00000121577ENST00000264231p.L271Lc.811C>TSubstitution - coding silent
QPRTENSG00000103485ENST00000395384p.A88Ac.264C>TSubstitution - coding silent
SMPD4ENSG00000136699ENST00000409031p.R590Hc.1769G>ASubstitution - Missense
ZNF608ENSG00000168916ENST00000306315p.G464Vc.1391G>TSubstitution - Missense
SYBUENSG00000147642ENST00000399066p.A516Vc.1547C>TSubstitution - Missense
PTPRKENSG00000152894ENST00000368227p.C386fs*15c.1155_1156insAInsertion - Frameshift
STX7ENSG00000079950ENST00000367937p.S81fs*13c.240delCDeletion - Frameshift
ZNF382ENSG00000161298ENST00000439428p.N144fs*5c.427delADeletion - Frameshift
CLUAP1ENSG00000103351ENST00000445795p.S85Gc.253A>GSubstitution - Missense
OPN3ENSG00000054277ENST00000331838p.R71Wc.211C>TSubstitution - Missense
NUP214ENSG00000126883ENST00000451030p.T299Mc.896C>TSubstitution - Missense
KDM6AENSG00000147050ENST00000382899p.W321Lc.962G>TSubstitution - Missense
SRPK2ENSG00000135250ENST00000393651p.D602Ec.1806C>GSubstitution - Missense
KIF1AENSG00000130294ENST00000498729p.A269Ac.807C>TSubstitution - coding silent
VGLL4ENSG00000144560ENST00000404339p.L222Lc.666G>ASubstitution - coding silent
ILDR1ENSG00000145103ENST00000462014p.G153*c.457G>TSubstitution - Nonsense
KMT2DENSG00000167548ENST00000301067p.R4904*c.14710C>TSubstitution - Nonsense
ENST00000336585p.I545Ic.1635C>TSubstitution - coding silent
PHF2ENSG00000197724ENST00000359246p.K492fs*6c.1468delADeletion - Frameshift
EGFRENSG00000146648ENST00000275493p.G719Sc.2155G>ASubstitution - Missense
CADPS2ENSG00000081803ENST00000313070p.A588Tc.1762G>ASubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.N1784fs*7c.5345delADeletion - Frameshift
PCDH11XENSG00000102290ENST00000298274p.R787Cc.2359C>TSubstitution - Missense
UNC13BENSG00000198722ENST00000396787p.R1419Cc.4255C>TSubstitution - Missense
RPL22ENSG00000116251ENST00000234875p.K16fs*9c.44_45insAInsertion - Frameshift
DLL1ENSG00000198719ENST00000366756p.G282fs*8c.845delGDeletion - Frameshift
SCAF4ENSG00000156304ENST00000286835p.P250fs*96c.749delCDeletion - Frameshift
ADAM21ENSG00000139985ENST00000267499p.L684fs*3c.2045delTDeletion - Frameshift
ROBO1ENSG00000169855ENST00000495273p.F719fs*28c.2157delTDeletion - Frameshift
UNC5CENSG00000182168ENST00000453304p.C352Cc.1056C>TSubstitution - coding silent
CAMK2GENSG00000148660ENST00000322680p.R75Rc.225C>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000359599p.S1861Sc.5583G>ASubstitution - coding silent
CAMK2GENSG00000148660ENST00000322680p.K539Kc.1617G>ASubstitution - coding silent
NCKAP1LENSG00000123338ENST00000293373p.P359Lc.1076C>TSubstitution - Missense
HOXC5ENSG00000172789ENST00000312492p.H59Rc.176A>GSubstitution - Missense
SCAPERENSG00000140386ENST00000324767p.R907Gc.2719C>GSubstitution - Missense
ENST00000253892p.A244Vc.731C>TSubstitution - Missense
PFKPENSG00000067057ENST00000381125p.L653Lc.1957C>TSubstitution - coding silent
ZNF438ENSG00000183621ENST00000361310p.G384Ac.1151G>CSubstitution - Missense
ACBD3ENSG00000182827ENST00000366812p.R485Qc.1454G>ASubstitution - Missense
CCNYENSG00000108100ENST00000374706p.R253Hc.758G>ASubstitution - Missense
CAPN9ENSG00000135773ENST00000271971p.?c.1791+9C>TUnknown
ZNF84ENSG00000198040ENST00000392319p.S357Nc.1070G>ASubstitution - Missense
SU_OBSCN.1p.R3287Pc.9860G>CSubstitution - Missense
ANO2ENSG00000047617ENST00000327087p.A559Tc.1675G>ASubstitution - Missense
DGKZENSG00000149091ENST00000454345p.D370Dc.1110C>TSubstitution - coding silent
CCDC15ENSG00000149548ENST00000344762p.K767Ec.2299A>GSubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.C171Yc.512G>ASubstitution - Missense
PPFIA1ENSG00000131626ENST00000253925p.N343Nc.1029T>CSubstitution - coding silent
KRT74ENSG00000170484ENST00000305620p.L275Ic.823C>ASubstitution - Missense
CEP170BENSG00000099814ENST00000556508p.D551delDc.1651_1653delGACDeletion - In frame
IGSF3ENSG00000143061ENST00000369483p.V920Gc.2759T>GSubstitution - Missense
OXCT2ENSG00000198754ENST00000327582p.V245Ac.734T>CSubstitution - Missense
PABPC4ENSG00000090621ENST00000372858p.R491Hc.1472G>ASubstitution - Missense
SLC22A24ENSG00000197658ENST00000326192p.S288Sc.864C>TSubstitution - coding silent
VANGL2ENSG00000162738ENST00000368061p.?c.1073+4G>AUnknown
SPENENSG00000065526ENST00000375759p.Q1538*c.4612C>TSubstitution - Nonsense
PRRC2CENSG00000117523ENST00000392078p.E2069Ec.6207A>GSubstitution - coding silent
CEP350ENSG00000135837ENST00000367607p.M787Vc.2359A>GSubstitution - Missense
IVNS1ABPENSG00000116679ENST00000367498p.Y224Hc.670T>CSubstitution - Missense
EXD2ENSG00000081177ENST00000409014p.L462Mc.1384C>ASubstitution - Missense
ACTN1ENSG00000072110ENST00000193403p.A793Vc.2378C>TSubstitution - Missense
ARHGEF12ENSG00000196914ENST00000397843p.R1247Rc.3741G>ASubstitution - coding silent
LUZP2ENSG00000187398ENST00000336930p.I345fs*>2c.1028delADeletion - Frameshift
CASP1ENSG00000137752ENST00000533400p.?c.862+8C>TUnknown
DUOX1ENSG00000137857ENST00000389037p.?c.1823-10G>AUnknown
MIPOL1ENSG00000151338ENST00000327441p.T435Ic.1304C>TSubstitution - Missense
ENST00000266524p.S553Yc.1658C>ASubstitution - Missense
BCAT1ENSG00000060982ENST00000261192p.?c.675-7C>TUnknown
FAM179AENSG00000189350ENST00000379558p.L841Lc.2523A>GSubstitution - coding silent
PAK7ENSG00000101349ENST00000378429p.P612fs*3c.1835delCDeletion - Frameshift
SEC14L3ENSG00000100012ENST00000215812p.G87fs*39c.260delGDeletion - Frameshift
SYNE1ENSG00000131018ENST00000423061p.R7928*c.23782C>TSubstitution - Nonsense
TRANK1ENSG00000168016ENST00000301807p.I1335Kc.4004T>ASubstitution - Missense
TSSK1BENSG00000212122ENST00000390666p.A182Vc.545C>TSubstitution - Missense
TSPYL2ENSG00000184205ENST00000375442p.Q328Rc.983A>GSubstitution - Missense
SULT4A1ENSG00000130540ENST00000330884p.R150Gc.448C>GSubstitution - Missense
MCM2ENSG00000073111ENST00000265056p.R183Cc.547C>TSubstitution - Missense
DMDENSG00000198947ENST00000357033p.D2426Yc.7276G>TSubstitution - Missense
RPS6KA3ENSG00000177189ENST00000379565p.P554Pc.1662G>ASubstitution - coding silent
CTAG2ENSG00000126890ENST00000369585p.?c.405-9C>TUnknown
SYTL3ENSG00000164674ENST00000360448p.R366Wc.1096C>TSubstitution - Missense
QKIENSG00000112531ENST00000275262p.T7Mc.20C>TSubstitution - Missense
GRM1ENSG00000152822ENST00000282753p.A49Vc.146C>TSubstitution - Missense
CCDC171ENSG00000164989ENST00000380701p.?c.1077-7T>GUnknown
LRP1BENSG00000168702ENST00000389484p.W3255Lc.9764G>TSubstitution - Missense
FREM3ENSG00000183090ENST00000329798p.G1612Dc.4835G>ASubstitution - Missense
RNF150ENSG00000170153ENST00000515673p.R292Qc.875G>ASubstitution - Missense
ZRANB3ENSG00000121988ENST00000264159p.K9fs*10c.26delADeletion - Frameshift
TBC1D9ENSG00000109436ENST00000442267p.H310Hc.930C>TSubstitution - coding silent
GIGYF1ENSG00000146830ENST00000275732p.L814fs*1c.2440delCDeletion - Frameshift
FBXL13ENSG00000161040ENST00000436908p.R225Cc.673C>TSubstitution - Missense
THEMISENSG00000172673ENST00000368248p.S493Sc.1479T>CSubstitution - coding silent
EP300ENSG00000100393ENST00000263253p.T594Mc.1781C>TSubstitution - Missense
PCDH19ENSG00000165194ENST00000373034p.V274Fc.820G>TSubstitution - Missense
ZNF501ENSG00000186446ENST00000396048p.E222Ec.666G>ASubstitution - coding silent
CPNE5ENSG00000124772ENST00000244751p.P399Sc.1195C>TSubstitution - Missense
DPYSL3ENSG00000113657ENST00000398514p.E111Dc.333G>TSubstitution - Missense
THADAENSG00000115970ENST00000405975p.L1921fs*10c.5762delTDeletion - Frameshift
LRBAENSG00000198589ENST00000357115p.S971Pc.2911T>CSubstitution - Missense
SORBS2ENSG00000154556ENST00000393528p.E610fs*>57c.1828delGDeletion - Frameshift
ZNF462ENSG00000148143ENST00000277225p.E2136Gc.6407A>GSubstitution - Missense
DCHS2ENSG00000197410ENST00000357232p.D2602Nc.7804G>ASubstitution - Missense
G3BP1ENSG00000145907ENST00000394123p.S250fs*8c.744_745insTInsertion - Frameshift
FAM58AENSG00000147382ENST00000406277p.Y68Yc.204C>TSubstitution - coding silent
EZH2ENSG00000106462ENST00000320356p.G395fs*29c.1184delGDeletion - Frameshift
EZH2ENSG00000106462ENST00000350995p.G351fs*29c.1052delGDeletion - Frameshift
PDZD4ENSG00000067840ENST00000164640p.P117Pc.351G>ASubstitution - coding silent
PLA2R1ENSG00000153246ENST00000283243p.S1241Fc.3722C>TSubstitution - Missense
ENST00000334328p.R77*c.229C>TSubstitution - Nonsense
NM_007349.2p.R245Cc.733C>TSubstitution - Missense
ACTR3BENSG00000133627ENST00000256001p.E124Ec.372G>ASubstitution - coding silent
GGT1ENSG00000100031ENST00000400380p.L151Lc.451C>TSubstitution - coding silent
COBLL1ENSG00000082438ENST00000342193p.L465Lc.1395G>ASubstitution - coding silent
FCGBPENSG00000090920ENST00000221347p.A1412Tc.4234G>ASubstitution - Missense
NM_003829.1p.T451Ac.1351A>GSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.A448Vc.1343C>TSubstitution - Missense
NM_003829.1p.D123Nc.367G>ASubstitution - Missense
ENST00000296270_v68p.N143Nc.429C>TSubstitution - coding silent
WWC1ENSG00000113645ENST00000265293p.R85*c.253C>TSubstitution - Nonsense
NM_002203.2p.Q360*c.1078C>TSubstitution - Nonsense
DCTDENSG00000129187ENST00000438320p.I41Ic.123C>TSubstitution - coding silent
HPRENSG00000261701ENST00000540303p.G190Rc.568G>ASubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.D2930Ac.8789A>CSubstitution - Missense
GSTM5ENSG00000134201ENST00000369812p.K113Qc.337A>CSubstitution - Missense
CDH23ENSG00000107736ENST00000299366p.?c.1149+9C>TUnknown
NM_144488.2p.K1061Kc.3183G>ASubstitution - coding silent
FAM129BENSG00000136830ENST00000373314p.I11Fc.31A>TSubstitution - Missense
TRIM49BENSG00000182053ENST00000332682p.K142fs*10c.426_427delAADeletion - Frameshift
FAM193AENSG00000125386ENST00000324666p.L1218Ic.3652C>ASubstitution - Missense
OR8H1ENSG00000181693ENST00000313022p.F62fs*21c.185delTDeletion - Frameshift
DDX60LENSG00000181381ENST00000505890p.N1169fs*25c.3506delADeletion - Frameshift
ZRANB3ENSG00000121988ENST00000536680p.K9fs*10c.26delADeletion - Frameshift
LRP10ENSG00000197324ENST00000359591p.G161Rc.481G>ASubstitution - Missense
WDR20ENSG00000140153ENST00000335263p.L55Lc.165C>GSubstitution - coding silent
SIPA1ENSG00000213445ENST00000394224p.P466Pc.1398C>TSubstitution - coding silent
ASCC1ENSG00000138303ENST00000545550p.K104Nc.312G>TSubstitution - Missense
INSCENSG00000188487ENST00000379554p.A531Ac.1593C>TSubstitution - coding silent
CTSDENSG00000117984ENST00000236671p.Y354Yc.1062C>TSubstitution - coding silent
FNDC5ENSG00000160097ENST00000373471p.L132fs*>6c.393delGDeletion - Frameshift
STPG1ENSG00000001460ENST00000003583p.T196fs*31c.584_585insAInsertion - Frameshift
INPP5FENSG00000198825ENST00000361976p.G944Gc.2832C>TSubstitution - coding silent
KIF26BENSG00000162849ENST00000407071p.P1440Lc.4319C>TSubstitution - Missense
DCDC1ENSG00000170959ENST00000342355p.M526Ic.1578G>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.H1666Hc.4998C>TSubstitution - coding silent
DEPDC7ENSG00000121690ENST00000311388p.I14Tc.41T>CSubstitution - Missense
AREL1ENSG00000119682ENST00000356357p.T527fs*10c.1579delADeletion - Frameshift
SU_CRIKp.A1145Vc.3434C>TSubstitution - Missense
PXNENSG00000089159ENST00000424649p.F363Fc.1089C>TSubstitution - coding silent
ETV6ENSG00000139083ENST00000396373p.R163Rc.489G>ASubstitution - coding silent
TP53BP1ENSG00000067369ENST00000263801p.?c.941-2A>GUnknown
ADAMTSL4ENSG00000143382ENST00000369038p.A902Tc.2704G>ASubstitution - Missense
ENST00000398860p.S2688Tc.8062T>ASubstitution - Missense
UBAP2LENSG00000143569ENST00000343815p.N213Kc.639C>ASubstitution - Missense
EFNA4ENSG00000243364ENST00000368409p.D179fs*15c.529delGDeletion - Frameshift
NFASCENSG00000163531ENST00000360049p.Q4*c.10C>TSubstitution - Nonsense
APOBEC4ENSG00000173627ENST00000308641p.A84Sc.250G>TSubstitution - Missense
CUBNENSG00000107611ENST00000377833p.P3544Hc.10631C>ASubstitution - Missense
RFWD3ENSG00000168411ENST00000361070p.P38Pc.114T>CSubstitution - coding silent
ENST00000339740p.S18Sc.54C>ASubstitution - coding silent
UNC79ENSG00000133958ENST00000553484p.Q1260Qc.3780G>ASubstitution - coding silent
SLC1A7ENSG00000162383ENST00000371494p.P214Sc.640C>TSubstitution - Missense
ADAMTS10ENSG00000142303ENST00000270328p.L641Lc.1923C>ASubstitution - coding silent
PIKFYVEENSG00000115020ENST00000264380p.R379Ic.1136G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.S5190Cc.15568A>TSubstitution - Missense
WDR88ENSG00000166359ENST00000355868p.T52Mc.155C>TSubstitution - Missense
GPR32ENSG00000142511ENST00000270590p.R283Qc.848G>ASubstitution - Missense
FBXW10ENSG00000171931ENST00000395667p.H560Yc.1678C>TSubstitution - Missense
ENST00000399211_v68p.E114Kc.340G>ASubstitution - Missense
SLC35G6ENSG00000259224ENST00000412468p.L213Lc.637C>TSubstitution - coding silent
GPRASP2ENSG00000158301ENST00000543253p.P441Pc.1323G>ASubstitution - coding silent
PTCH1ENSG00000185920ENST00000331920p.C454Yc.1361G>ASubstitution - Missense
ENSG00000268040ENST00000593412p.N102Nc.306C>TSubstitution - coding silent
AATKENSG00000181409ENST00000326724p.E942Kc.2824G>ASubstitution - Missense
RAC3ENSG00000169750ENST00000306897p.D47Dc.141C>TSubstitution - coding silent
BPTFENSG00000171634ENST00000335221p.A2761Vc.8282C>TSubstitution - Missense
ADRA1AENSG00000120907ENST00000354550p.T111Ac.331A>GSubstitution - Missense
SLC25A13ENSG00000004864ENST00000265631p.V458Mc.1372G>ASubstitution - Missense
FGFR1OPENSG00000213066ENST00000366847p.D249Gc.746A>GSubstitution - Missense
ENST00000242365_v65p.S766Nc.2297G>ASubstitution - Missense
ZC3HAV1ENSG00000105939ENST00000242351p.S302Sc.906T>CSubstitution - coding silent
WDR27ENSG00000184465ENST00000333572p.A405Tc.1213G>ASubstitution - Missense
DCAF4L1ENSG00000182308ENST00000333141p.S359Sc.1077C>ASubstitution - coding silent
XM_496642.1p.R1311fs*11c.3930delCDeletion - Frameshift
ADAMTS1ENSG00000154734ENST00000284984p.A502Vc.1505C>TSubstitution - Missense
NLRP12ENSG00000142405ENST00000324134p.P454Pc.1362C>TSubstitution - coding silent
USP7ENSG00000187555ENST00000344836p.?c.2819+1G>AUnknown
SPIRE2ENSG00000204991ENST00000378247p.P334Pc.1002G>ASubstitution - coding silent
ZNF534ENSG00000198633ENST00000332323p.D154Nc.460G>ASubstitution - Missense
AOX1ENSG00000138356ENST00000374700p.L1110Lc.3330C>TSubstitution - coding silent
CGREF1ENSG00000138028ENST00000260595p.?c.731_782del103Unknown
NLRP7ENSG00000167634ENST00000328092p.V714Ac.2141T>CSubstitution - Missense
KIR2DL4ENSG00000189013ENST00000359085p.P42Lc.125C>TSubstitution - Missense
NLRP4ENSG00000160505ENST00000587891p.C57Yc.170G>ASubstitution - Missense
CCNB3ENSG00000147082ENST00000376042p.C37Yc.110G>ASubstitution - Missense
UNC5DENSG00000156687ENST00000287272p.?c.737-2A>GUnknown
UNC5DENSG00000156687ENST00000404895p.A263Vc.788C>TSubstitution - Missense
MCF2L2ENSG00000053524ENST00000328913p.P895Lc.2684C>TSubstitution - Missense
PCDH12ENSG00000113555ENST00000231484p.A243Ac.729G>ASubstitution - coding silent
THEGENSG00000105549ENST00000342640p.T77Tc.231C>ASubstitution - coding silent
ZNF850ENSG00000267041ENST00000591344p.L91Fc.273G>TSubstitution - Missense
SCN1BENSG00000105711ENST00000262631p.V139Ic.415G>ASubstitution - Missense
KIF27ENSG00000165115ENST00000297814p.R866fs*7c.2596delADeletion - Frameshift
LARSENSG00000133706ENST00000394434p.I1036Mc.3108A>GSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.H1520Hc.4560C>TSubstitution - coding silent
CACNA1GENSG00000006283ENST00000416767p.G1505Cc.4513G>TSubstitution - Missense
C7orf60ENSG00000164603ENST00000297145p.H314Yc.940C>TSubstitution - Missense
EGFRENSG00000146648ENST00000275493p.V1200Vc.3600C>TSubstitution - coding silent
VPS13BENSG00000132549ENST00000358544p.V3798Ac.11393T>CSubstitution - Missense
CHPF2ENSG00000033100ENST00000035307p.W258*c.773G>ASubstitution - Nonsense
GTPBP2ENSG00000172432ENST00000307126p.A63Vc.188C>TSubstitution - Missense
MCM3ENSG00000112118ENST00000229854p.A62Tc.184G>ASubstitution - Missense
EEF2KENSG00000103319ENST00000263026p.P394Lc.1181C>TSubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.S2750Sc.8250C>TSubstitution - coding silent
NEBENSG00000183091ENST00000397345p.D3457Dc.10371C>TSubstitution - coding silent
C4orf6ENSG00000082929ENST00000195455p.D54Dc.162C>TSubstitution - coding silent
VIPR2ENSG00000106018ENST00000262178p.A261Ac.783G>ASubstitution - coding silent
CEP135ENSG00000174799ENST00000257287p.Q1099*c.3295C>TSubstitution - Nonsense
PXDNENSG00000130508ENST00000252804p.K1428Ec.4282A>GSubstitution - Missense
DOCK1ENSG00000150760ENST00000280333p.?c.2689-1G>TUnknown
ZNF438ENSG00000183621ENST00000452305p.D381Nc.1141G>ASubstitution - Missense
PHF20L1ENSG00000129292ENST00000220847p.K272fs*66c.809delADeletion - Frameshift
ATP13A5ENSG00000187527ENST00000342358p.G272Gc.816T>CSubstitution - coding silent
DDAH2ENSG00000213722ENST00000375787p.A31Tc.91G>ASubstitution - Missense
DUOX1ENSG00000137857ENST00000561166p.?c.761-10G>AUnknown
MCRS1ENSG00000187778ENST00000550165p.R50Mc.149G>TSubstitution - Missense
ANKLE2ENSG00000176915ENST00000337516p.D401Nc.1201G>ASubstitution - Missense
OR1S1ENSG00000172774ENST00000309433p.L164Fc.490C>TSubstitution - Missense
MYO16ENSG00000041515ENST00000457511p.F354fs*17c.1054delTDeletion - Frameshift
TPH1ENSG00000129167ENST00000341556p.V64Ic.190G>ASubstitution - Missense
MYBPC3ENSG00000134571ENST00000545968p.C443Yc.1328G>ASubstitution - Missense
USP15ENSG00000135655ENST00000393654p.G265Dc.794G>ASubstitution - Missense
PPP6R2ENSG00000100239ENST00000216061p.L817Lc.2451G>ASubstitution - coding silent
PLCH1ENSG00000114805ENST00000494598p.R900Hc.2699G>ASubstitution - Missense
MAP2K3ENSG00000034152ENST00000361818p.P204Hc.611C>ASubstitution - Missense
TMX2ENSG00000213593ENST00000278422p.L131fs*20c.385delCDeletion - Frameshift
QKIENSG00000112531ENST00000453779p.K134fs*14c.394delADeletion - Frameshift
B2MENSG00000166710ENST00000544417p.V69fs*34c.200delADeletion - Frameshift
ATP13A1ENSG00000105726ENST00000291503p.V639Mc.1915G>ASubstitution - Missense
B2MENSG00000166710ENST00000558401p.V69fs*34c.200delADeletion - Frameshift
BCAP29ENSG00000075790ENST00000379121p.F4Lc.10T>CSubstitution - Missense
USP1ENSG00000162607ENST00000371146p.N662fs*2c.1978delADeletion - Frameshift
MMP19ENSG00000123342ENST00000322569p.A339Vc.1016C>TSubstitution - Missense
CHPT1ENSG00000111666ENST00000229266p.F162fs*23c.478delTDeletion - Frameshift
ARAFENSG00000078061ENST00000377045p.R255fs*37c.758delCDeletion - Frameshift
ROBO1ENSG00000169855ENST00000464233p.F755fs*28c.2265delTDeletion - Frameshift
ENST00000534231p.S429fs*39c.1284delGDeletion - Frameshift
TTNENSG00000155657ENST00000342175p.P14374Pc.43122G>ASubstitution - coding silent
NM_003319p.P14182Pc.42546G>ASubstitution - coding silent
TNRENSG00000116147ENST00000367674p.R1227Hc.3680G>ASubstitution - Missense
DAPK1ENSG00000196730ENST00000408954p.Y1275fs*31c.3816delGDeletion - Frameshift
OR10H5ENSG00000172519ENST00000308940p.R139Wc.415C>TSubstitution - Missense
CPB2ENSG00000080618ENST00000181383p.S92Nc.275G>ASubstitution - Missense
KRT80ENSG00000167767ENST00000313234p.P413Hc.1238C>ASubstitution - Missense
GOLGA3ENSG00000090615ENST00000456883p.S570Pc.1708T>CSubstitution - Missense
KRT81ENSG00000205426ENST00000327741p.S13Sc.39C>TSubstitution - coding silent
AMBRA1ENSG00000110497ENST00000314845p.A1128Ac.3384C>TSubstitution - coding silent
SEC24CENSG00000176986ENST00000345254p.V353Vc.1059G>ASubstitution - coding silent
NM_000043.3p.R105Sc.315A>TSubstitution - Missense
USP54ENSG00000166348ENST00000408019p.P1287Sc.3859C>TSubstitution - Missense
MS4A15ENSG00000166961ENST00000337911p.L80Lc.240G>ASubstitution - coding silent
GSTM5ENSG00000134201ENST00000369813p.K53Qc.157A>CSubstitution - Missense
ACOT11ENSG00000162390ENST00000371316p.A507Ec.1520C>ASubstitution - Missense
PRTGENSG00000166450ENST00000389286p.L567Lc.1701G>ASubstitution - coding silent
RNPEPENSG00000176393ENST00000295640p.E593Vc.1778A>TSubstitution - Missense
RFX7ENSG00000181827ENST00000317318p.?c.228-9G>AUnknown
EIF2B1ENSG00000111361ENST00000424014p.L305Lc.913C>TSubstitution - coding silent
PTPN6ENSG00000111679ENST00000456013p.D47fs*3c.135delGDeletion - Frameshift
MTF2ENSG00000143033ENST00000370298p.P352Lc.1055C>TSubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.S486Ic.1457G>TSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000478060p.V1209Ac.3626T>CSubstitution - Missense
MSLNLENSG00000162006ENST00000293892p.A180Vc.539C>TSubstitution - Missense
HESX1ENSG00000163666ENST00000295934p.?c.157+6C>TUnknown
MYOM2ENSG00000036448ENST00000262113p.G665Ec.1994G>ASubstitution - Missense
FRMPD1ENSG00000070601ENST00000377765p.N915fs*92c.2742delADeletion - Frameshift
AASSENSG00000008311ENST00000393376p.R146Wc.436C>TSubstitution - Missense
CSE1LENSG00000124207ENST00000262982p.L44Rc.131T>GSubstitution - Missense
BTKENSG00000010671ENST00000308731p.I79Ic.237T>CSubstitution - coding silent
PTCH1ENSG00000185920ENST00000375274p.C453Yc.1358G>ASubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.V3266Vc.9798G>ASubstitution - coding silent
GPR179ENSG00000188888ENST00000342292p.V1167Vc.3501C>TSubstitution - coding silent
C17orf58ENSG00000186665ENST00000449250p.D21Ec.63C>ASubstitution - Missense
LYNX1ENSG00000180155ENST00000335822p.L95Fc.285G>TSubstitution - Missense
ENST00000316347p.R347Hc.1040G>ASubstitution - Missense
HIST1H1AENSG00000124610ENST00000244573p.P172fs*11c.506_507insAInsertion - Frameshift
KIAA0319ENSG00000137261ENST00000378214p.Y595fs*21c.1783_1796del14Deletion - Frameshift
ZNF665ENSG00000197497ENST00000396424p.C367Cc.1101T>CSubstitution - coding silent
CRYBA4ENSG00000196431ENST00000354760p.S123Sc.369C>TSubstitution - coding silent
DEPDC5ENSG00000100150ENST00000535622p.?c.279+5G>AUnknown
KIAA1524ENSG00000163507ENST00000295746p.Q704Qc.2112G>ASubstitution - coding silent
ZNF600ENSG00000189190ENST00000338230p.N501Sc.1502A>GSubstitution - Missense
MORC1ENSG00000114487ENST00000232603p.Q326fs*14c.976_977delCADeletion - Frameshift
PDCD1ENSG00000188389ENST00000334409p.A80Ac.240C>TSubstitution - coding silent
CAPN10ENSG00000142330ENST00000391984p.A529Vc.1586C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.V5237delVc.15709_15711delGTTDeletion - In frame
NDUFB11ENSG00000147123ENST00000276062p.G123Gc.369G>TSubstitution - coding silent
COL25A1ENSG00000188517ENST00000399132p.?c.1153-9C>TUnknown
TNFAIP3ENSG00000118503ENST00000237289p.L130Ic.388C>ASubstitution - Missense
ADAMTS2ENSG00000087116ENST00000251582p.G48Ec.143G>ASubstitution - Missense
ALPK1ENSG00000073331ENST00000458497p.A774Tc.2320G>ASubstitution - Missense
BOD1L1ENSG00000038219ENST00000040738p.E1348Kc.4042G>ASubstitution - Missense
SLCO4C1ENSG00000173930ENST00000310954p.R309Rc.927A>TSubstitution - coding silent
ENST00000333535_v68p.S262Gc.784A>GSubstitution - Missense
ENST00000508324_v68p.S230Sc.690T>CSubstitution - coding silent
POM121ENSG00000196313ENST00000395270p.G727Dc.2180G>ASubstitution - Missense
ENST00000358511_v70p.A1801Tc.5401G>ASubstitution - Missense
LPIN1ENSG00000134324ENST00000404113p.L328Mc.982C>ASubstitution - Missense
COL4A4ENSG00000081052ENST00000396625p.G575Gc.1725G>CSubstitution - coding silent
CXCR2ENSG00000180871ENST00000318507p.P38Lc.113C>TSubstitution - Missense
FAM50AENSG00000071859ENST00000393600p.E300Gc.899A>GSubstitution - Missense
PTPN12ENSG00000127947ENST00000248594p.D201Nc.601G>ASubstitution - Missense
JARID2ENSG00000008083ENST00000341776p.Q77Hc.231G>TSubstitution - Missense
ZNF852ENSG00000178917ENST00000436261p.H237Hc.711T>CSubstitution - coding silent
ENST00000380689p.L105Lc.313T>CSubstitution - coding silent
NM_139238.1p.T231fs*35c.688delADeletion - Frameshift
IGSF11ENSG00000144847ENST00000393775p.P355Qc.1064C>ASubstitution - Missense
PRKD2ENSG00000105287ENST00000291281p.L646Lc.1938G>TSubstitution - coding silent
KLHL11ENSG00000178502ENST00000319121p.S210Rc.630C>ASubstitution - Missense
JUPENSG00000173801ENST00000393930p.V523Ic.1567G>ASubstitution - Missense
SORBS2ENSG00000154556ENST00000448662p.E605fs*>57c.1813delGDeletion - Frameshift
CCDC149ENSG00000181982ENST00000504487p.?c.372+4C>TUnknown
RASGRF2ENSG00000113319ENST00000265080p.P236delPc.704_706delCTCDeletion - In frame
ELL2ENSG00000118985ENST00000237853p.A335fs*6c.1002delADeletion - Frameshift
CPXCR1ENSG00000147183ENST00000276127p.Y276Yc.828C>TSubstitution - coding silent
RAD51DENSG00000185379ENST00000394589p.?c.963+9G>AUnknown
ENST00000502505_v70p.S65Sc.195C>TSubstitution - coding silent
TMCO6ENSG00000113119ENST00000394671p.E84Dc.252G>TSubstitution - Missense
PPP1R16BENSG00000101445ENST00000299824p.R429Wc.1285C>TSubstitution - Missense
DBNDD2ENSG00000244274ENST00000372720p.R104Rc.312G>ASubstitution - coding silent
KIF5CENSG00000168280ENST00000435030p.T516Ic.1547C>TSubstitution - Missense
SNX13ENSG00000071189ENST00000428135p.D114Gc.341A>GSubstitution - Missense
PIWIL3ENSG00000184571ENST00000332271p.L529Lc.1585C>TSubstitution - coding silent
CYP2S1ENSG00000167600ENST00000310054p.P485Tc.1453C>ASubstitution - Missense
ZNF449ENSG00000173275ENST00000339249p.E278fs*23c.823_824insCInsertion - Frameshift
IFRD1ENSG00000006652ENST00000005558p.D59Nc.175G>ASubstitution - Missense
TGENSG00000042832ENST00000220616p.W899*c.2696G>ASubstitution - Nonsense
FAM129BENSG00000136830ENST00000373312p.I24Fc.70A>TSubstitution - Missense
PDE4DENSG00000113448ENST00000503258p.D438Dc.1314C>TSubstitution - coding silent
ENST00000373990p.D433fs*90c.1291delCDeletion - Frameshift
LYPD4ENSG00000183103ENST00000330743p.S139Sc.417C>ASubstitution - coding silent
BRD4ENSG00000141867ENST00000263377p.S563fs*21c.1687delADeletion - Frameshift
NOTCH3ENSG00000074181ENST00000263388p.V1734Ic.5200G>ASubstitution - Missense
FLT1ENSG00000102755ENST00000543394p.D75Nc.223G>ASubstitution - Missense
ENST00000266505_v70p.E118Kc.352G>ASubstitution - Missense
CAMK2GENSG00000148660ENST00000322635p.K510Kc.1530G>ASubstitution - coding silent
PPP3CBENSG00000107758ENST00000394822p.V201Fc.601G>TSubstitution - Missense
ASCC1ENSG00000138303ENST00000342444p.R288Cc.862C>TSubstitution - Missense
DAB2IPENSG00000136848ENST00000309989p.V189Mc.565G>ASubstitution - Missense
KCNK9ENSG00000169427ENST00000303015p.P291Lc.872C>TSubstitution - Missense
CTNND1ENSG00000198561ENST00000399050p.N449fs*49c.1341delADeletion - Frameshift
CPED1ENSG00000106034ENST00000450913p.N397fs*9c.1189_1190insTInsertion - Frameshift
MPP4ENSG00000082126ENST00000359962p.S404Gc.1210A>GSubstitution - Missense
STK40ENSG00000196182ENST00000373129p.P242Pc.726C>TSubstitution - coding silent
TIAM2ENSG00000146426ENST00000367174p.L1025Sc.3074T>CSubstitution - Missense
FAM120BENSG00000112584ENST00000537664p.?c.2352+8C>TUnknown
BEND3ENSG00000178409ENST00000369042p.D265fs*54c.793delGDeletion - Frameshift
IGFBP2ENSG00000115457ENST00000233809p.G173fs*13c.514delGDeletion - Frameshift
TTNENSG00000155657ENST00000359218p.P14307Pc.42921G>ASubstitution - coding silent
PDHA1ENSG00000131828ENST00000422285p.R304Qc.911G>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000373094p.R787Cc.2359C>TSubstitution - Missense
BDP1ENSG00000145734ENST00000358731p.K1239Nc.3717G>TSubstitution - Missense
CDH22ENSG00000149654ENST00000372262p.E435Kc.1303G>ASubstitution - Missense
CES5AENSG00000159398ENST00000319165p.?c.810+5G>AUnknown
ZNF831ENSG00000124203ENST00000371030p.A180Tc.538G>ASubstitution - Missense
NM_003582p.P101Lc.302C>TSubstitution - Missense
ROBO4ENSG00000154133ENST00000306534p.?c.1505-3C>TUnknown
TBRG1ENSG00000154144ENST00000284290p.A138Vc.413C>TSubstitution - Missense
OPN4ENSG00000122375ENST00000372071p.R369Rc.1105A>CSubstitution - coding silent
CDH24ENSG00000139880ENST00000397359p.P712fs*>108c.2134_2135delCCDeletion - Frameshift
ADCY4ENSG00000129467ENST00000310677p.?c.2841+2T>CUnknown
KIF7ENSG00000166813ENST00000394412p.R841Rc.2523G>ASubstitution - coding silent
NUMA1ENSG00000137497ENST00000393695p.R1490Hc.4469G>ASubstitution - Missense
MGMTENSG00000170430ENST00000306010p.G187Cc.559G>TSubstitution - Missense
BIN2ENSG00000110934ENST00000267012p.P301Tc.901C>ASubstitution - Missense
XM_290527.3p.A632Dc.1895C>ASubstitution - Missense
MECRENSG00000116353ENST00000263702p.M288fs*7c.861delGDeletion - Frameshift
C12orf4ENSG00000047621ENST00000261250p.V190Ic.568G>ASubstitution - Missense
PNLIPENSG00000175535ENST00000369221p.?c.811+10T>AUnknown
MS4A15ENSG00000166961ENST00000405633p.L173Lc.519G>ASubstitution - coding silent
MMP14ENSG00000157227ENST00000311852p.Y44Hc.130T>CSubstitution - Missense
VRTNENSG00000133980ENST00000256362p.V329fs*47c.983_984insGGInsertion - Frameshift
CITENSG00000122966ENST00000392521p.E902Ec.2706G>ASubstitution - coding silent
TCHHENSG00000159450ENST00000368804p.R740Wc.2218C>TSubstitution - Missense
PRUNEENSG00000143363ENST00000271620p.R86Wc.256C>TSubstitution - Missense
JMJD7-PLA2G4BENSG00000168970ENST00000382448p.G714Gc.2142G>ASubstitution - coding silent
VPS13DENSG00000048707ENST00000358136p.A2833Tc.8497G>ASubstitution - Missense
ASCC1ENSG00000138303ENST00000394919p.R260Cc.778C>TSubstitution - Missense
SLC22A11ENSG00000168065ENST00000301891p.L26Ic.76C>ASubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.D5474Nc.16420G>ASubstitution - Missense
NRXN3ENSG00000021645ENST00000335750p.L87Lc.261G>ASubstitution - coding silent
COTL1ENSG00000103187ENST00000262428p.E119Kc.355G>ASubstitution - Missense
XRN2ENSG00000088930ENST00000377191p.A80Vc.239C>TSubstitution - Missense
ZNF317ENSG00000130803ENST00000247956p.T7fs*51c.14delCDeletion - Frameshift
RCAN3ENSG00000117602ENST00000374395p.A151Ac.453C>ASubstitution - coding silent
CCDC18ENSG00000122483ENST00000334652p.E401Kc.1201G>ASubstitution - Missense
XM_031689.7p.E1688Kc.5062G>ASubstitution - Missense
ARMCX1ENSG00000126947ENST00000372829p.S413Nc.1238G>ASubstitution - Missense
TRPV2ENSG00000187688ENST00000338560p.Q518Qc.1554G>ASubstitution - coding silent
CENPIENSG00000102384ENST00000423383p.C752*c.2256C>ASubstitution - Nonsense
DEFA6ENSG00000164822ENST00000297436p.L7Ic.19C>ASubstitution - Missense
GRIA3ENSG00000125675ENST00000371256p.A313Tc.937G>ASubstitution - Missense
HCN2ENSG00000099822ENST00000251287p.?c.1057-4G>AUnknown
CRYGDENSG00000118231ENST00000264376p.A159fs*9c.475delGDeletion - Frameshift
COL5A2ENSG00000204262ENST00000374866p.T434Tc.1302G>ASubstitution - coding silent
PRKDCENSG00000253729ENST00000314191p.S75Nc.224G>ASubstitution - Missense
ADAMTS9ENSG00000163638ENST00000498707p.R1600Qc.4799G>ASubstitution - Missense
MYOM2ENSG00000036448ENST00000262113p.?c.3043+6T>CUnknown
ENST00000354485p.N328Nc.984C>TSubstitution - coding silent
ZNF831ENSG00000124203ENST00000371030p.P108Lc.323C>TSubstitution - Missense
GNASENSG00000087460ENST00000313949p.E104Kc.310G>ASubstitution - Missense
ENST00000300671p.V1285Vc.3855G>ASubstitution - coding silent
NM_032441.1p.P325Tc.973C>ASubstitution - Missense
SGTAENSG00000104969ENST00000221566p.R302Qc.905G>ASubstitution - Missense
COL18A1ENSG00000182871ENST00000355480p.G351Dc.1052G>ASubstitution - Missense
CCDC137ENSG00000185298ENST00000329214p.G119Ec.356G>ASubstitution - Missense
ELP2ENSG00000134759ENST00000358232p.P649Hc.1946C>ASubstitution - Missense
ENST00000217299p.L415Fc.1243C>TSubstitution - Missense
GLP2RENSG00000065325ENST00000262441p.A439Vc.1316C>TSubstitution - Missense
SHFM1ENSG00000127922ENST00000417009p.V48Vc.144A>GSubstitution - coding silent
ENST00000292562_v68p.P348Lc.1043C>TSubstitution - Missense
MTMR7ENSG00000003987ENST00000180173p.?c.1101+5G>AUnknown
FAM120BENSG00000112584ENST00000476287p.?c.2599+3G>AUnknown
KRT12ENSG00000187242ENST00000251643p.D175Nc.523G>ASubstitution - Missense
PPLENSG00000118898ENST00000345988p.R1676Cc.5026C>TSubstitution - Missense
PTK6ENSG00000101213ENST00000217185p.C326Cc.978C>TSubstitution - coding silent
SLC5A2ENSG00000140675ENST00000330498p.R639Wc.1915C>TSubstitution - Missense
ITGAXENSG00000140678ENST00000268296p.P274Hc.821C>ASubstitution - Missense
ACSF3ENSG00000176715ENST00000317447p.G451Gc.1353C>GSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.?c.32417-7T>AUnknown
COG1ENSG00000166685ENST00000299886p.Q808*c.2422C>TSubstitution - Nonsense
ENST00000293813p.?c.1delAUnknown
TNK2ENSG00000061938ENST00000333602p.R127Hc.380G>ASubstitution - Missense
ARHGEF38ENSG00000236699ENST00000420470p.K464fs*26c.1387delADeletion - Frameshift
C3orf80ENSG00000180044ENST00000326474p.S118Lc.353C>TSubstitution - Missense
ALMS1ENSG00000116127ENST00000264448p.L4160Lc.12478C>TSubstitution - coding silent
KCMF1ENSG00000176407ENST00000409785p.M232Lc.694A>CSubstitution - Missense
AGFG2ENSG00000106351ENST00000300176p.?c.1087+8C>TUnknown
PLXNA3ENSG00000130827ENST00000369682p.E372Kc.1114G>ASubstitution - Missense
HEATR2ENSG00000164818ENST00000297440p.L274Lc.822G>CSubstitution - coding silent
ADGBENSG00000118492ENST00000367493p.P163Sc.487C>TSubstitution - Missense
ATRIPENSG00000164053ENST00000320211p.V423fs*34c.1260delCDeletion - Frameshift
MAPK8IP2ENSG00000008735ENST00000008876p.A256Ac.768G>ASubstitution - coding silent
IFNB1ENSG00000171855ENST00000380232p.K54Kc.162G>ASubstitution - coding silent
EHMT1ENSG00000181090ENST00000460843p.R612Cc.1834C>TSubstitution - Missense
MCM6ENSG00000076003ENST00000264156p.E339Ec.1017G>ASubstitution - coding silent
PRSS22ENSG00000005001ENST00000161006p.?c.718-4G>AUnknown
ENST00000539430p.L533fs*1c.1597delCDeletion - Frameshift
MUC17ENSG00000169876ENST00000306151p.P2580Hc.7739C>ASubstitution - Missense
LPOENSG00000167419ENST00000262290p.P444fs*80c.1327delCDeletion - Frameshift
DSTENSG00000151914ENST00000370769p.A6270Vc.18809C>TSubstitution - Missense
ARMC2ENSG00000118690ENST00000392644p.D769Nc.2305G>ASubstitution - Missense
KIAA1009ENSG00000135315ENST00000403245p.E38fs*2c.111delADeletion - Frameshift
ENST00000331340_v65p.G68Rc.202G>ASubstitution - Missense
RIMBP2ENSG00000060709ENST00000536002p.S40Sc.120C>TSubstitution - coding silent
ENST00000298953_v70p.A294Tc.880G>ASubstitution - Missense
SPTBN2ENSG00000173898ENST00000529997p.S2138Nc.6413G>ASubstitution - Missense
KIF1AENSG00000130294ENST00000498729p.S749Sc.2247C>TSubstitution - coding silent
PMFBP1ENSG00000118557ENST00000355636p.S399Fc.1196C>TSubstitution - Missense
SREBF1ENSG00000072310ENST00000338854p.S442Sc.1326C>TSubstitution - coding silent
YIPF7ENSG00000177752ENST00000332990p.Y200Hc.598T>CSubstitution - Missense
CASTENSG00000153113ENST00000338252p.?c.1749+3_1749+14delaaaaaaaaaaaaUnknown
DNAH8ENSG00000124721ENST00000373278p.L194Lc.580T>CSubstitution - coding silent
FILIP1ENSG00000118407ENST00000393004p.L786Lc.2358T>CSubstitution - coding silent
DDR1ENSG00000204580ENST00000361741p.I351Tc.1052T>CSubstitution - Missense
NM_001380.2p.?c.2689-1G>TUnknown
MAP3K6ENSG00000142733ENST00000374040p.F841fs*143c.2520delCDeletion - Frameshift
CENPHENSG00000153044ENST00000283006p.N115fs*16c.337delADeletion - Frameshift
TBC1D22BENSG00000065491ENST00000373491p.P177fs*2c.524delCDeletion - Frameshift
CPED1ENSG00000106034ENST00000310396p.H653Hc.1959C>TSubstitution - coding silent
CXXC5ENSG00000171604ENST00000302517p.K259delKc.769_771delAAGDeletion - In frame
DNAH7ENSG00000118997ENST00000312428p.R2438Cc.7312C>TSubstitution - Missense
PRKCDENSG00000163932ENST00000394729p.R6Hc.17G>ASubstitution - Missense
RNF43ENSG00000108375ENST00000407977p.G659fs*41c.1976delGDeletion - Frameshift
ADCY1ENSG00000164742ENST00000297323p.T950Mc.2849C>TSubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.D1743Nc.5227G>ASubstitution - Missense
AGLENSG00000162688ENST00000370163p.C486Cc.1458C>TSubstitution - coding silent
C1orf159ENSG00000131591ENST00000421241p.G36Gc.108C>TSubstitution - coding silent
C1orf159ENSG00000131591ENST00000421241p.A188Vc.563C>TSubstitution - Missense
ACACBENSG00000076555ENST00000377848p.L2151Lc.6451C>TSubstitution - coding silent
HECTD4ENSG00000173064ENST00000377560p.F1965Sc.5894T>CSubstitution - Missense
GLCEENSG00000138604ENST00000261858p.R540Cc.1618C>TSubstitution - Missense
TRIM17ENSG00000162931ENST00000366697p.?c.752+10C>TUnknown
WIF1ENSG00000156076ENST00000286574p.A354Tc.1060G>ASubstitution - Missense
EPHA8ENSG00000070886ENST00000166244p.?c.824-7T>CUnknown
OR10J1ENSG00000196184ENST00000423932p.I212Tc.635T>CSubstitution - Missense
OR10G7ENSG00000182634ENST00000330487p.H243Rc.728A>GSubstitution - Missense
NM_006313.1p.G261Dc.782G>ASubstitution - Missense
ACP2ENSG00000134575ENST00000256997p.D378Dc.1134C>TSubstitution - coding silent
ENST00000349637p.M2315Tc.6944T>CSubstitution - Missense
SLC16A12ENSG00000152779ENST00000341233p.P344Sc.1030C>TSubstitution - Missense
ENST00000412131p.Y1688fs*3c.5061_5062insCInsertion - Frameshift
PTPN14ENSG00000152104ENST00000366956p.L376Lc.1126T>CSubstitution - coding silent
TBC1D2BENSG00000167202ENST00000409931p.R745Qc.2234G>ASubstitution - Missense
NM_018979p.S1327Nc.3980G>ASubstitution - Missense
GANABENSG00000089597ENST00000356638p.I103Tc.308T>CSubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.Q2529Hc.7587G>TSubstitution - Missense
USP35ENSG00000118369ENST00000529308p.A876Dc.2627C>ASubstitution - Missense
AGBL1ENSG00000166748ENST00000421325p.Q619Qc.1857G>ASubstitution - coding silent
NID1ENSG00000116962ENST00000264187p.A1118Vc.3353C>TSubstitution - Missense
NRBF2ENSG00000148572ENST00000435510p.A14Sc.40G>TSubstitution - Missense
TMEM106CENSG00000134291ENST00000552561p.L140Lc.418C>TSubstitution - coding silent
IL22RA1ENSG00000142677ENST00000270800p.?c.356-1G>AUnknown
HEATR4ENSG00000187105ENST00000334988p.C122Yc.365G>ASubstitution - Missense
NM_032590.2p.V160Mc.478G>ASubstitution - Missense
PLA2G4EENSG00000188089ENST00000413860p.D61Dc.183C>TSubstitution - coding silent
TRIM49CENSG00000204449ENST00000448984p.S428Rc.1284C>ASubstitution - Missense
TMEM132BENSG00000139364ENST00000299308p.P695Tc.2083C>ASubstitution - Missense
EP400ENSG00000183495ENST00000389561p.N443Nc.1329T>CSubstitution - coding silent
NAP1L1ENSG00000187109ENST00000393263p.Q186Qc.558G>ASubstitution - coding silent
RNF2ENSG00000121481ENST00000367510p.C72fs*23c.210delTDeletion - Frameshift
CEP350ENSG00000135837ENST00000367607p.S1113Sc.3339T>ASubstitution - coding silent
KCNC4ENSG00000116396ENST00000438661p.E141Kc.421G>ASubstitution - Missense
HFE2ENSG00000168509ENST00000336751p.T215Ac.643A>GSubstitution - Missense
VIMENSG00000026025ENST00000544301p.L443Lc.1327C>TSubstitution - coding silent
ARMC4ENSG00000169126ENST00000305242p.I190Vc.568A>GSubstitution - Missense
ATXN3ENSG00000066427ENST00000393287p.*362fs?c.1083_1084insAInsertion - Frameshift
BDKRB1ENSG00000100739ENST00000216629p.C240Yc.719G>ASubstitution - Missense
KCND1ENSG00000102057ENST00000218176p.P31Sc.91C>TSubstitution - Missense
USP9XENSG00000124486ENST00000324545p.H2155Hc.6465C>TSubstitution - coding silent
FGFR1ENSG00000077782ENST00000447712p.K502Nc.1506G>TSubstitution - Missense
MAPK10ENSG00000109339ENST00000449047p.K46Nc.138A>CSubstitution - Missense
ZNF41ENSG00000147124ENST00000313116p.Y607Yc.1821C>TSubstitution - coding silent
EPHA6ENSG00000080224ENST00000502694p.D311Nc.931G>ASubstitution - Missense
EIF4ENIF1ENSG00000184708ENST00000397525p.A626Vc.1877C>TSubstitution - Missense
DUSP18ENSG00000167065ENST00000404885p.S21Lc.62C>TSubstitution - Missense
ZNF415ENSG00000170954ENST00000243643p.T463Sc.1388C>GSubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.P3045Pc.9135C>TSubstitution - coding silent
GYG1ENSG00000163754ENST00000345003p.D237Ac.710A>CSubstitution - Missense
NOL10ENSG00000115761ENST00000381685p.I305fs*10c.908_909insAInsertion - Frameshift
MAN2A1ENSG00000112893ENST00000261483p.S90Lc.269C>TSubstitution - Missense
KCNN2ENSG00000080709ENST00000503706p.Y199Yc.597C>TSubstitution - coding silent
DUS3LENSG00000141994ENST00000309061p.M518Vc.1552A>GSubstitution - Missense
SGPP2ENSG00000163082ENST00000321276p.I289Vc.865A>GSubstitution - Missense
DOCK10ENSG00000135905ENST00000258390p.Y668Yc.2004C>TSubstitution - coding silent
F8ENSG00000185010ENST00000360256p.Y683Yc.2049T>CSubstitution - coding silent
GPR64ENSG00000173698ENST00000357991p.S925Pc.2773T>CSubstitution - Missense
IGF2RENSG00000197081ENST00000356956p.D1317fs*27c.3950delADeletion - Frameshift
CREB5ENSG00000146592ENST00000357727p.R379Wc.1135C>TSubstitution - Missense
VCX3BENSG00000205642ENST00000444481p.K21Rc.62A>GSubstitution - Missense
SIX5ENSG00000177045ENST00000317578p.E297Ec.891G>ASubstitution - coding silent
PRKD2ENSG00000105287ENST00000291281p.R836Cc.2506C>TSubstitution - Missense
CCDC114ENSG00000105479ENST00000315396p.D157Dc.471C>TSubstitution - coding silent
NM_001371.1p.M3720Ic.11160G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.E1753Dc.5259G>CSubstitution - Missense
CUX1ENSG00000257923ENST00000292535p.S1162Fc.3485C>TSubstitution - Missense
COL28A1ENSG00000215018ENST00000399429p.K620Nc.1860G>TSubstitution - Missense
TRIM73ENSG00000178809ENST00000323819p.Q15Qc.45G>ASubstitution - coding silent
ENST00000368454p.R450Lc.1349G>TSubstitution - Missense
FYNENSG00000010810ENST00000368682p.Y512Cc.1535A>GSubstitution - Missense
X51346.1p.E254Ec.762G>ASubstitution - coding silent
ENST00000313378p.H187Hc.561T>CSubstitution - coding silent
ATP13A1ENSG00000105726ENST00000357324p.H621Hc.1863C>TSubstitution - coding silent
ADAMTSL1ENSG00000178031ENST00000380548p.?c.834+7C>TUnknown
NM_139238.1p.?c.834+7C>TUnknown
RAD51DENSG00000185379ENST00000335858p.?c.567+9G>AUnknown
GIPC3ENSG00000179855ENST00000322315p.L124Lc.370C>TSubstitution - coding silent
PCDHGB2ENSG00000253910ENST00000522605p.A686Tc.2056G>ASubstitution - Missense
GPR160ENSG00000173890ENST00000355897p.V154Ic.460G>ASubstitution - Missense
DAPK1ENSG00000196730ENST00000408954p.S862Sc.2586C>TSubstitution - coding silent
DAPK1ENSG00000196730ENST00000358077p.S862Sc.2586C>TSubstitution - coding silent
MSH2ENSG00000095002ENST00000233146p.?c.942+3_942+17delaaaaaaaaaaaaaaaUnknown
PPM1EENSG00000175175ENST00000308249p.T482Mc.1445C>TSubstitution - Missense
SLC26A3ENSG00000091138ENST00000340010p.G212Dc.635G>ASubstitution - Missense
THSD7AENSG00000005108ENST00000423059p.P817Pc.2451C>ASubstitution - coding silent
VPS13BENSG00000132549ENST00000357162p.Q3076*c.9226C>TSubstitution - Nonsense
GJC3ENSG00000176402ENST00000312891p.Y156Yc.468C>TSubstitution - coding silent
ENSG00000249034ENST00000502505p.S65Sc.195C>TSubstitution - coding silent
FSD1ENSG00000105255ENST00000221856p.G423Cc.1267G>TSubstitution - Missense
BRD4ENSG00000141867ENST00000360016p.G742Sc.2224G>ASubstitution - Missense
PAXIP1ENSG00000157212ENST00000404141p.R279Cc.835C>TSubstitution - Missense
GPR112ENSG00000156920ENST00000394143p.F36fs*8c.102delTDeletion - Frameshift
ASTN2ENSG00000148219ENST00000361477p.P346Lc.1037C>TSubstitution - Missense
ADCY8ENSG00000155897ENST00000286355p.T277Mc.830C>TSubstitution - Missense
C3orf65ENSG00000163915ENST00000296270p.N143Nc.429C>TSubstitution - coding silent
PDE4DENSG00000113448ENST00000360047p.D432Dc.1296C>TSubstitution - coding silent
FGF10ENSG00000070193ENST00000264664p.N129Sc.386A>GSubstitution - Missense
SPATS1ENSG00000249481ENST00000288390p.F130Vc.388T>GSubstitution - Missense
GPR111ENSG00000164393ENST00000398742p.S49Cc.146C>GSubstitution - Missense
ABCA3ENSG00000167972ENST00000301732p.H1644Rc.4931A>GSubstitution - Missense
KIFC1ENSG00000237649ENST00000428849p.Q234fs*52c.693_694insAInsertion - Frameshift
PLXNA2ENSG00000076356ENST00000367033p.V55Ic.163G>ASubstitution - Missense
DIP2CENSG00000151240ENST00000280886p.A813Vc.2438C>TSubstitution - Missense
PTPN11ENSG00000179295ENST00000351677p.T153Tc.459T>CSubstitution - coding silent
TBC1D4ENSG00000136111ENST00000377636p.?c.2199-9T>CUnknown
ENST00000377560_v62p.F2215Sc.6644T>CSubstitution - Missense
LARP1BENSG00000138709ENST00000326639p.R151*c.451C>TSubstitution - Nonsense
ANKLE2ENSG00000176915ENST00000357997p.D401Nc.1201G>ASubstitution - Missense
FHAD1ENSG00000142621ENST00000375998p.F225Cc.674T>GSubstitution - Missense
TMEM254ENSG00000133678ENST00000372281p.F102Lc.306C>ASubstitution - Missense
ZBTB37ENSG00000185278ENST00000367702p.K297Nc.891G>TSubstitution - Missense
SORCS3ENSG00000156395ENST00000369701p.?c.3444-7C>TUnknown
VEZTENSG00000028203ENST00000436874p.Q434*c.1300C>TSubstitution - Nonsense
PCK2ENSG00000100889ENST00000216780p.R189Cc.565C>TSubstitution - Missense
DTX4ENSG00000110042ENST00000227451p.K396fs*34c.1182delADeletion - Frameshift
CELF3ENSG00000159409ENST00000290583p.L181Rc.542T>GSubstitution - Missense
ATL3ENSG00000184743ENST00000398868p.*542*c.1626G>ASubstitution - coding silent
NEUROG3ENSG00000122859ENST00000242462p.R107Hc.320G>ASubstitution - Missense
PVRL4ENSG00000143217ENST00000368012p.G417Gc.1251G>ASubstitution - coding silent
SPOCD1ENSG00000134668ENST00000360482p.C329Cc.987C>TSubstitution - coding silent
BRINP3ENSG00000162670ENST00000367462p.C726*c.2178C>ASubstitution - Nonsense
MOV10ENSG00000155363ENST00000357443p.R771Qc.2312G>ASubstitution - Missense
ABCC1ENSG00000103222ENST00000399408p.?c.2645-1G>TUnknown
CRB1ENSG00000134376ENST00000367400p.?c.653-5A>GUnknown
MSRB2ENSG00000148450ENST00000376510p.A174Sc.520G>TSubstitution - Missense
GAS2ENSG00000148935ENST00000454584p.P142Lc.425C>TSubstitution - Missense
MUC2ENSG00000198788ENST00000359061p.W1309*c.3927G>ASubstitution - Nonsense
NM_014381.1p.M181Ic.543G>ASubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.R348Cc.1042C>TSubstitution - Missense
ASUNENSG00000064102ENST00000261191p.E142Ac.425A>CSubstitution - Missense
LEO1ENSG00000166477ENST00000299601p.E541delEc.1621_1623delGAADeletion - In frame
RFX7ENSG00000181827ENST00000317318p.S834Sc.2502C>TSubstitution - coding silent
FAM46BENSG00000158246ENST00000289166p.K124Nc.372G>TSubstitution - Missense
SLC45A1ENSG00000162426ENST00000289877p.T525Ac.1573A>GSubstitution - Missense
CHST5ENSG00000135702ENST00000336257p.R177Wc.529C>TSubstitution - Missense
OTTHUMT00000057774.1p.A185Vc.554C>TSubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.C453Yc.1358G>ASubstitution - Missense
CLCN4ENSG00000073464ENST00000380833p.S110Nc.329G>ASubstitution - Missense
DOCK11ENSG00000147251ENST00000276202p.E1244*c.3730G>TSubstitution - Nonsense
TENM1ENSG00000009694ENST00000371130p.D1866Gc.5597A>GSubstitution - Missense
ERBB4ENSG00000178568ENST00000342788p.P1196Sc.3586C>TSubstitution - Missense
CACNA1DENSG00000157388ENST00000288139p.P1437Tc.4309C>ASubstitution - Missense
SND1ENSG00000197157ENST00000354725p.R819Qc.2456G>ASubstitution - Missense
GLDCENSG00000178445ENST00000321612p.R337Qc.1010G>ASubstitution - Missense
TMEM209ENSG00000146842ENST00000397622p.T109Ac.325A>GSubstitution - Missense
IL8ENSG00000169429ENST00000307407p.?c.200+6T>CUnknown
PPLENSG00000118898ENST00000345988p.T1152Mc.3455C>TSubstitution - Missense
SONENSG00000159140ENST00000300278p.P40Hc.119C>ASubstitution - Missense
SLC6A2ENSG00000103546ENST00000379906p.P285Pc.855C>TSubstitution - coding silent
CBSENSG00000160200ENST00000398158p.A237Tc.709G>ASubstitution - Missense
PER1ENSG00000179094ENST00000317276p.S1207Nc.3620G>ASubstitution - Missense
NOS2ENSG00000007171ENST00000313735p.C200Rc.598T>CSubstitution - Missense
ULK2ENSG00000083290ENST00000361658p.G580Gc.1740G>ASubstitution - coding silent
EPG5ENSG00000152223ENST00000282041p.I2176Ic.6528C>TSubstitution - coding silent
ARHGAP39ENSG00000147799ENST00000377307p.T793Tc.2379C>TSubstitution - coding silent
ENST00000273600p.L3407Ic.10219C>ASubstitution - Missense
MKRN1ENSG00000133606ENST00000255977p.S409Sc.1227C>TSubstitution - coding silent
FAM120BENSG00000112584ENST00000476287p.?c.2283+8C>TUnknown
JAM2ENSG00000154721ENST00000312957p.?c.809+9C>TUnknown
NM_016507p.N788Nc.2364C>TSubstitution - coding silent
TCP10LENSG00000242220ENST00000300258p.?c.498+7C>TUnknown
MPP4ENSG00000082126ENST00000409474p.?c.733-10C>AUnknown
NM_003319p.?c.31841-7T>AUnknown
PRMT2ENSG00000160310ENST00000397637p.S170Ic.509G>TSubstitution - Missense
PRMT2ENSG00000160310ENST00000334494p.S170Ic.509G>TSubstitution - Missense
CEP192ENSG00000101639ENST00000325971p.A279Tc.835G>ASubstitution - Missense
ENST00000274361_v65p.L788Lc.2362C>TSubstitution - coding silent
CSPG5ENSG00000114646ENST00000264723p.P311Sc.931C>TSubstitution - Missense
ADAMTSL1ENSG00000178031ENST00000380548p.T231fs*35c.688delADeletion - Frameshift
PJA1ENSG00000181191ENST00000361478p.I273Nc.818T>ASubstitution - Missense
TSSK6ENSG00000178093ENST00000360913p.C82Yc.245G>ASubstitution - Missense
TSC1ENSG00000165699ENST00000298552p.D47Nc.139G>ASubstitution - Missense
NOTCH1ENSG00000148400ENST00000277541p.G1788Sc.5362G>ASubstitution - Missense
ENST00000372191p.S406Fc.1217C>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.?c.4512+9G>AUnknown
DMXL1ENSG00000172869ENST00000311085p.F237Sc.710T>CSubstitution - Missense
DCHS2ENSG00000197410ENST00000339452p.F923Lc.2767T>CSubstitution - Missense
PDLIM3ENSG00000154553ENST00000284771p.R164Wc.490C>TSubstitution - Missense
FIG4ENSG00000112367ENST00000230124p.V441Ac.1322T>CSubstitution - Missense
TNRC18ENSG00000182095ENST00000430969p.D2355Dc.7065C>TSubstitution - coding silent
CTNNA1ENSG00000044115ENST00000302763p.A798fs*80c.2388_2389insAInsertion - Frameshift
SRA1ENSG00000213523ENST00000336283p.K51Rc.152A>GSubstitution - Missense
HAVCR1ENSG00000113249ENST00000339252p.T142Mc.425C>TSubstitution - Missense
ENST00000305759p.P285Lc.854C>TSubstitution - Missense
MECOMENSG00000085276ENST00000392736p.T845Tc.2535A>CSubstitution - coding silent
SPATA31D1ENSG00000214929ENST00000344803p.G103Rc.307G>ASubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.P260Pc.780G>ASubstitution - coding silent
GABRB2ENSG00000145864ENST00000353437p.R138Hc.413G>ASubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.M1847Ic.5541G>ASubstitution - Missense
SLC27A4ENSG00000167114ENST00000300456p.R51Cc.151C>TSubstitution - Missense
IL31RAENSG00000164509ENST00000447346p.R518*c.1552C>TSubstitution - Nonsense
RCAN2ENSG00000172348ENST00000371374p.N178Ic.533A>TSubstitution - Missense
RUNX2ENSG00000124813ENST00000352853p.G36Dc.107G>ASubstitution - Missense
DHODHENSG00000102967ENST00000219240p.G20*c.58G>TSubstitution - Nonsense
NWD1ENSG00000188039ENST00000339803p.L202fs*20c.598_599insCInsertion - Frameshift
IFT52ENSG00000101052ENST00000373039p.S230Nc.689G>ASubstitution - Missense
LPHN2ENSG00000117114ENST00000370721p.D311Nc.931G>ASubstitution - Missense
HOXC11ENSG00000123388ENST00000546378p.R71Lc.212G>TSubstitution - Missense
CPSF6ENSG00000111605ENST00000266679p.L144Ic.430T>ASubstitution - Missense
ZDHHC16ENSG00000171307ENST00000370846p.V44Ac.131T>CSubstitution - Missense
NEK8ENSG00000160602ENST00000268766p.R23Qc.68G>ASubstitution - Missense
B2MENSG00000166710ENST00000544417p.Q22*c.64C>TSubstitution - Nonsense
PTPRTENSG00000196090ENST00000373184p.N121Nc.363C>TSubstitution - coding silent
ENST00000373969p.?c.409+4G>AUnknown
ECE2ENSG00000145194ENST00000357474p.G795Gc.2385C>TSubstitution - coding silent
CDKL4ENSG00000205111ENST00000378803p.V106Ic.316G>ASubstitution - Missense
MAP2K3ENSG00000034152ENST00000316920p.P237Hc.710C>ASubstitution - Missense
ENST00000397439_v70p.E22Dc.66G>TSubstitution - Missense
RPS6ENSG00000137154ENST00000380381p.C12Yc.35G>ASubstitution - Missense
ADTRPENSG00000111863ENST00000229583p.?c.153+5G>AUnknown
SYTL3ENSG00000164674ENST00000297239p.T363Ic.1088C>TSubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.V1284Vc.3852G>ASubstitution - coding silent
PARP6ENSG00000137817ENST00000287196p.G604Gc.1812C>TSubstitution - coding silent
MYO9AENSG00000066933ENST00000356056p.Y1422fs*8c.4264delTDeletion - Frameshift
BZW2ENSG00000136261ENST00000258761p.L217Fc.649C>TSubstitution - Missense
DPCDENSG00000166171ENST00000370151p.R125Cc.373C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.R966*c.2896C>TSubstitution - Nonsense
NM_032738.3p.R204Hc.611G>ASubstitution - Missense
RASGRF1ENSG00000058335ENST00000419573p.E726Ec.2178A>GSubstitution - coding silent
LARP4BENSG00000107929ENST00000316157p.T163fs*47c.487delADeletion - Frameshift
TCHPENSG00000139437ENST00000312777p.K174fs*26c.515delADeletion - Frameshift
KCNH2ENSG00000055118ENST00000430723p.T152fs*14c.453delCDeletion - Frameshift
SU_CDKL4p.V106Ic.316G>ASubstitution - Missense
NRG1ENSG00000157168ENST00000356819p.K91fs*24c.266delADeletion - Frameshift
PLA2G4EENSG00000188089ENST00000413860p.A39fs*14c.108_109delTGDeletion - Frameshift
CTNNBL1ENSG00000132792ENST00000361383p.R58fs*25c.166delADeletion - Frameshift
PPP3CBENSG00000107758ENST00000360663p.I215Tc.644T>CSubstitution - Missense
SLC35G1ENSG00000176273ENST00000371408p.T162Tc.486G>ASubstitution - coding silent
TBC1D2BENSG00000167202ENST00000300584p.R745Qc.2234G>ASubstitution - Missense
ARHGAP12ENSG00000165322ENST00000344936p.K627fs*4c.1878delCDeletion - Frameshift
GRIK3ENSG00000163873ENST00000373091p.G804Rc.2410G>ASubstitution - Missense
CLSPNENSG00000092853ENST00000251195p.R1139Lc.3416G>TSubstitution - Missense
ACTRT2ENSG00000169717ENST00000378404p.S353Gc.1057A>GSubstitution - Missense
NR1H4ENSG00000012504ENST00000548884p.C196Cc.588C>TSubstitution - coding silent
DCAF5ENSG00000139990ENST00000341516p.Q511*c.1531C>TSubstitution - Nonsense
XYLT1ENSG00000103489ENST00000261381p.I420delIc.1259_1261delTCADeletion - In frame
ACTN1ENSG00000072110ENST00000193403p.W368*c.1104G>ASubstitution - Nonsense
ARL14EPENSG00000152219ENST00000282032p.E171Ec.513A>GSubstitution - coding silent
NM_002426.1p.H88Yc.262C>TSubstitution - Missense
ANGEL1ENSG00000013523ENST00000251089p.R585Cc.1753C>TSubstitution - Missense
ST8SIA2ENSG00000140557ENST00000268164p.?c.291-1G>AUnknown
SPAG17ENSG00000155761ENST00000336338p.S918Sc.2754A>GSubstitution - coding silent
TAOK3ENSG00000135090ENST00000419821p.?c.2535+10C>TUnknown
HTR3BENSG00000149305ENST00000260191p.L240fs*5c.714delCDeletion - Frameshift
PTPN6ENSG00000111679ENST00000399448p.D49fs*3c.141delGDeletion - Frameshift
CD4ENSG00000010610ENST00000011653p.R79Rc.237C>TSubstitution - coding silent
UBR4ENSG00000127481ENST00000375254p.P631fs*18c.1892delCDeletion - Frameshift
MTORENSG00000198793ENST00000361445p.?c.7165-1G>TUnknown
MEF2AENSG00000068305ENST00000354410p.R444Cc.1330C>TSubstitution - Missense
RAD54LENSG00000085999ENST00000442598p.S445Yc.1334C>ASubstitution - Missense
GALK2ENSG00000156958ENST00000327171p.E370fs*41c.1104delCDeletion - Frameshift
ELTD1ENSG00000162618ENST00000370742p.V120Vc.360C>TSubstitution - coding silent
LRRC8DENSG00000171492ENST00000337338p.V482fs*14c.1440delGDeletion - Frameshift
NUTM1ENSG00000184507ENST00000333756p.T1122Tc.3366G>ASubstitution - coding silent
WDR24ENSG00000127580ENST00000293883p.E262Ec.786G>ASubstitution - coding silent
CNTNAP4ENSG00000152910ENST00000478060p.S18Sc.54C>ASubstitution - coding silent
MYO15AENSG00000091536ENST00000205890p.T1325Ic.3974C>TSubstitution - Missense
EVPLENSG00000167880ENST00000301607p.A1340Vc.4019C>TSubstitution - Missense
RAB40AENSG00000172476ENST00000372633p.R23Kc.68G>ASubstitution - Missense
HS6ST2ENSG00000171004ENST00000521489p.H389Yc.1165C>TSubstitution - Missense
MDH1BENSG00000138400ENST00000374412p.Y328Yc.984C>TSubstitution - coding silent
TTNENSG00000155657ENST00000360870p.T1042Ic.3125C>TSubstitution - Missense
MYO1BENSG00000128641ENST00000339514p.R38Hc.113G>ASubstitution - Missense
MAP2K3ENSG00000034152ENST00000316920p.R179Wc.535C>TSubstitution - Missense
MATN2ENSG00000132561ENST00000520016p.M733Vc.2197A>GSubstitution - Missense
ENST00000222301p.*121fs?c.361_362insTInsertion - Frameshift
GPIENSG00000105220ENST00000356487p.?c.750+1G>AUnknown
PPFIA3ENSG00000177380ENST00000334186p.R678Cc.2032C>TSubstitution - Missense
CALD1ENSG00000122786ENST00000361675p.K119Rc.356A>GSubstitution - Missense
THBS2ENSG00000186340ENST00000366787p.T75Ac.223A>GSubstitution - Missense
SULT1B1ENSG00000173597ENST00000310613p.P111Lc.332C>TSubstitution - Missense
CHRNA1ENSG00000138435ENST00000261007p.I264Sc.791T>GSubstitution - Missense
CECR2ENSG00000099954ENST00000400585p.C1071Cc.3213C>TSubstitution - coding silent
SPP1ENSG00000118785ENST00000395080p.G158Gc.474C>TSubstitution - coding silent
KDM6AENSG00000147050ENST00000377967p.N634fs*5c.1896_1897insAInsertion - Frameshift
ZNF512BENSG00000196700ENST00000369888p.V278Ac.833T>CSubstitution - Missense
ACTG2ENSG00000163017ENST00000345517p.A296Ac.888C>TSubstitution - coding silent
DNAH6ENSG00000115423ENST00000237449p.Q1933*c.5797C>TSubstitution - Nonsense
EDC4ENSG00000038358ENST00000358933p.E999Kc.2995G>ASubstitution - Missense
TRANK1ENSG00000168016ENST00000428977p.I1342Kc.4025T>ASubstitution - Missense
ANAPC1ENSG00000153107ENST00000341068p.V535Dc.1604T>ASubstitution - Missense
ZNF772ENSG00000197128ENST00000343280p.E219Kc.655G>ASubstitution - Missense
XAF1ENSG00000132530ENST00000361842p.K97Kc.291G>ASubstitution - coding silent
ZSCAN18ENSG00000121413ENST00000240727p.R12Rc.36G>ASubstitution - coding silent
DMDENSG00000198947ENST00000378677p.D2422Yc.7264G>TSubstitution - Missense
KLHL7ENSG00000122550ENST00000339077p.V332Mc.994G>ASubstitution - Missense
CD83ENSG00000112149ENST00000379153p.S48Fc.143C>TSubstitution - Missense
THSD7BENSG00000144229ENST00000272643p.G1269Gc.3807A>GSubstitution - coding silent
ERCC2ENSG00000104884ENST00000485403p.Q392Qc.1176G>ASubstitution - coding silent
ZNF680ENSG00000173041ENST00000309683p.H480Hc.1440T>CSubstitution - coding silent
MDH1ENSG00000014641ENST00000539945p.?c.57+8A>GUnknown
GFPT1ENSG00000198380ENST00000361060p.R512Rc.1536G>ASubstitution - coding silent
ENST00000328380p.D1120Nc.3358G>ASubstitution - Missense
MARVELD2ENSG00000152939ENST00000325631p.P49Pc.147C>TSubstitution - coding silent
ARHGAP10ENSG00000071205ENST00000336498p.G773Dc.2318G>ASubstitution - Missense
GRIN3AENSG00000198785ENST00000361820p.L315Ic.943C>ASubstitution - Missense
L3MBTL4ENSG00000154655ENST00000400105p.G140Gc.420A>GSubstitution - coding silent
PSMD11ENSG00000108671ENST00000261712p.R310Wc.928C>TSubstitution - Missense
PRKCIENSG00000163558ENST00000295797p.?c.1498-3T>CUnknown
FAM98CENSG00000130244ENST00000252530p.R248Wc.742C>TSubstitution - Missense
ENSG00000272333ENST00000222270p.C1005Fc.3014G>TSubstitution - Missense
CNTNAP1ENSG00000108797ENST00000264638p.N1078Nc.3234C>TSubstitution - coding silent
GHRHRENSG00000106128ENST00000326139p.L360fs*27c.1078_1079insCInsertion - Frameshift
BRS3ENSG00000102239ENST00000370648p.R192*c.574C>TSubstitution - Nonsense
VARS2ENSG00000137411ENST00000321897p.A1023Vc.3068C>TSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.R4601Wc.13801C>TSubstitution - Missense
TNXBENSG00000168477ENST00000375247p.R196Hc.587G>ASubstitution - Missense
CPAMD8ENSG00000160111ENST00000291440p.A1653Tc.4957G>ASubstitution - Missense
ZFATENSG00000066827ENST00000377838p.V219Mc.655G>ASubstitution - Missense
ENST00000398946p.V207Mc.619G>ASubstitution - Missense
MAP3K13ENSG00000073803ENST00000424227p.R53*c.157C>TSubstitution - Nonsense
ABCF3ENSG00000161204ENST00000429586p.E644Kc.1930G>ASubstitution - Missense
DDX60LENSG00000181381ENST00000260184p.S603Sc.1809T>CSubstitution - coding silent
EHMT2ENSG00000204371ENST00000375537p.R1142*c.3424C>TSubstitution - Nonsense
RCAN2ENSG00000172348ENST00000330430p.N132Ic.395A>TSubstitution - Missense
MYT1LENSG00000186487ENST00000428368p.L885fs*53c.2653delCDeletion - Frameshift
CSPG5ENSG00000114646ENST00000383738p.P311Sc.931C>TSubstitution - Missense
WIPF1ENSG00000115935ENST00000272746p.P347Pc.1041G>ASubstitution - coding silent
COBLL1ENSG00000082438ENST00000194871p.L531Lc.1593G>ASubstitution - coding silent
MYO5AENSG00000197535ENST00000358212p.K1570Rc.4709A>GSubstitution - Missense
QKIENSG00000112531ENST00000392127p.T7Mc.20C>TSubstitution - Missense
KANK2ENSG00000197256ENST00000432929p.S425Sc.1275G>ASubstitution - coding silent
DAPK1ENSG00000196730ENST00000469640p.Y1300fs*31c.3891delGDeletion - Frameshift
AURKBENSG00000178999ENST00000585124p.R284Hc.851G>ASubstitution - Missense
JAG1ENSG00000101384ENST00000254958p.A891Tc.2671G>ASubstitution - Missense
CTNNA2ENSG00000066032ENST00000466387p.G619Gc.1857C>TSubstitution - coding silent
CCDC110ENSG00000168491ENST00000307588p.V750Ic.2248G>ASubstitution - Missense
SNAPC1ENSG00000023608ENST00000216294p.D214fs*1c.632_633insTInsertion - Frameshift
CYP17A1ENSG00000148795ENST00000369887p.K59fs*16c.177delADeletion - Frameshift
RIMBP2ENSG00000060709ENST00000261655p.S132Sc.396C>TSubstitution - coding silent
ZBTB20ENSG00000181722ENST00000357258p.P619fs*43c.1856delCDeletion - Frameshift
RPL22ENSG00000116251ENST00000234875p.K15fs*5c.44delADeletion - Frameshift
POMT1ENSG00000130714ENST00000354713p.P284Hc.851C>ASubstitution - Missense
EIF4G3ENSG00000075151ENST00000264211p.V564fs*1c.1689delADeletion - Frameshift
TM6SF1ENSG00000136404ENST00000322019p.A106Tc.316G>ASubstitution - Missense
FRMD4AENSG00000151474ENST00000357447p.P1005fs*8c.3014delCDeletion - Frameshift
PCED1AENSG00000132635ENST00000360652p.C425fs*11c.1269delGDeletion - Frameshift
SCAF1ENSG00000126461ENST00000360565p.T1181fs*28c.3533delCDeletion - Frameshift
ISLR2ENSG00000167178ENST00000361742p.A72Tc.214G>ASubstitution - Missense
HOXC5ENSG00000172789ENST00000312492p.A221Sc.661G>TSubstitution - Missense
ZNF37AENSG00000075407ENST00000361085p.K465fs*5c.1386_1387delAGDeletion - Frameshift
DISC1ENSG00000162946ENST00000366633p.P437Pc.1311G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.R3233Pc.9698G>CSubstitution - Missense
WIF1ENSG00000156076ENST00000286574p.A354Tc.1060G>ASubstitution - Missense
ARHGEF11ENSG00000132694ENST00000368194p.R921Qc.2762G>ASubstitution - Missense
CRTAC1ENSG00000095713ENST00000370597p.G496Rc.1486G>ASubstitution - Missense
ROBO3ENSG00000154134ENST00000397801p.G1229Dc.3686G>ASubstitution - Missense
TBCELENSG00000154114ENST00000529397p.S93Gc.277A>GSubstitution - Missense
CYP2C8ENSG00000138115ENST00000535898p.P158Hc.473C>ASubstitution - Missense
SORCS3ENSG00000156395ENST00000369701p.A995Tc.2983G>ASubstitution - Missense
DUSP5ENSG00000138166ENST00000369583p.L32Lc.96G>ASubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.D3832Dc.11496C>TSubstitution - coding silent
C12orf55ENSG00000188596ENST00000298953p.A294Tc.880G>ASubstitution - Missense
TRMT61AENSG00000166166ENST00000389749p.G200Gc.600C>ASubstitution - coding silent
GZMBENSG00000100453ENST00000216341p.L5Lc.15G>ASubstitution - coding silent
TECPR2ENSG00000196663ENST00000359520p.L393Lc.1179C>ASubstitution - coding silent
PCK2ENSG00000100889ENST00000396973p.R189Cc.565C>TSubstitution - Missense
ENST00000332541p.E54delEc.162_164delAGADeletion - In frame
HIVEP3ENSG00000127124ENST00000372583p.P1116Sc.3346C>TSubstitution - Missense
PTPRFENSG00000142949ENST00000359947p.N959Dc.2875A>GSubstitution - Missense
CGNENSG00000143375ENST00000271636p.P146Tc.436C>ASubstitution - Missense
BCO2ENSG00000197580ENST00000357685p.L84Lc.250C>TSubstitution - coding silent
DENND1BENSG00000213047ENST00000235453p.Y124Hc.370T>CSubstitution - Missense
ABI1ENSG00000136754ENST00000376142p.G312Sc.934G>ASubstitution - Missense
OR4F15ENSG00000182854ENST00000332238p.F120Vc.358T>GSubstitution - Missense
S100A3ENSG00000188015ENST00000368712p.A8Ac.24G>ASubstitution - coding silent
ZNF317ENSG00000130803ENST00000247956p.Q422*c.1264C>TSubstitution - Nonsense
FLRT3ENSG00000125848ENST00000378053p.E588Kc.1762G>ASubstitution - Missense
PAQR5ENSG00000137819ENST00000395407p.?c.51+5G>AUnknown
RICTORENSG00000164327ENST00000296782p.?c.50-1G>AUnknown
MROH2BENSG00000171495ENST00000399564p.N66Ic.197A>TSubstitution - Missense
XM_031689.7p.L2875Pc.8624T>CSubstitution - Missense
SLC35D2ENSG00000130958ENST00000253270p.?c.831+8G>AUnknown
BIRC5ENSG00000089685ENST00000350051p.?c.111+9G>AUnknown
IRS4ENSG00000133124ENST00000372129p.A28Tc.82G>ASubstitution - Missense
LLGL1ENSG00000131899ENST00000316843p.S914Lc.2741C>TSubstitution - Missense
ZCCHC12ENSG00000174460ENST00000310164p.Y349Cc.1046A>GSubstitution - Missense
TRIP10ENSG00000125733ENST00000313285p.?c.1490-9C>AUnknown
RPEENSG00000197713ENST00000429921p.A171Tc.511G>ASubstitution - Missense
ERBB4ENSG00000178568ENST00000402597p.P1186Sc.3556C>TSubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.S486Ic.1457G>TSubstitution - Missense
LRRC37A3ENSG00000176809ENST00000319651p.I1604Mc.4812C>GSubstitution - Missense
EXTL3ENSG00000012232ENST00000220562p.P248Lc.743C>TSubstitution - Missense
FRMPD1ENSG00000070601ENST00000377765p.P1327Hc.3980C>ASubstitution - Missense
ZBP1ENSG00000124256ENST00000371173p.A369Vc.1106C>TSubstitution - Missense
SOGA1ENSG00000149639ENST00000237536p.?c.3482+7G>AUnknown
UBA2ENSG00000126261ENST00000246548p.W273*c.819G>ASubstitution - Nonsense
DNAH2ENSG00000183914ENST00000389173p.Q1329*c.3985C>TSubstitution - Nonsense
XM_290799.5p.R1253Hc.3758G>ASubstitution - Missense
ENTPD6ENSG00000197586ENST00000376652p.H98Hc.294C>TSubstitution - coding silent
XM_374491.1p.A798fs*24c.2387delADeletion - Frameshift
MAFAENSG00000182759ENST00000333480p.T261Mc.782C>TSubstitution - Missense
BTN3A1ENSG00000026950ENST00000289361p.I222Ic.666C>TSubstitution - coding silent
NM_014422.1p.P275Sc.823C>TSubstitution - Missense
SEZ6LENSG00000100095ENST00000248933p.E531Dc.1593G>TSubstitution - Missense
LMF1ENSG00000103227ENST00000262301p.E437Dc.1311G>TSubstitution - Missense
BANPENSG00000172530ENST00000355022p.T286Tc.858G>ASubstitution - coding silent
CGREF1ENSG00000138028ENST00000402394p.G244fs*>41c.731_833del103Deletion - Frameshift
TTNENSG00000155657ENST00000342992p.V11542delVc.34624_34626delGTTDeletion - In frame
NM_003319p.R16458_A16459insRc.49370_49371insAAGInsertion - In frame
PTPRAENSG00000132670ENST00000358719p.L355Lc.1065G>ASubstitution - coding silent
SLC9A4ENSG00000180251ENST00000295269p.G376Cc.1126G>TSubstitution - Missense
RBM3ENSG00000102317ENST00000430348p.C7Yc.20G>ASubstitution - Missense
SPARCL1ENSG00000152583ENST00000282470p.A446Vc.1337C>TSubstitution - Missense
ZNF41ENSG00000147124ENST00000313116p.R651Hc.1952G>ASubstitution - Missense
RTEL1ENSG00000258366ENST00000508582p.V151Mc.451G>ASubstitution - Missense
CCDC79ENSG00000249961ENST00000433154p.N65fs*11c.194delADeletion - Frameshift
RNF13ENSG00000082996ENST00000344229p.N346Ic.1037A>TSubstitution - Missense
YTHDC2ENSG00000047188ENST00000161863p.Q908*c.2722C>TSubstitution - Nonsense
SMC1BENSG00000077935ENST00000357450p.V251Dc.752T>ASubstitution - Missense
NM_053025p.L1767Lc.5301C>ASubstitution - coding silent
MCM2ENSG00000073111ENST00000265056p.Q472Qc.1416G>ASubstitution - coding silent
USP34ENSG00000115464ENST00000398571p.Q3328*c.9982C>TSubstitution - Nonsense
IQSEC1ENSG00000144711ENST00000429247p.N964Dc.2890A>GSubstitution - Missense
FAM124BENSG00000124019ENST00000409685p.L219Lc.657A>GSubstitution - coding silent
IRS1ENSG00000169047ENST00000305123p.G226Sc.676G>ASubstitution - Missense
ANKRD12ENSG00000101745ENST00000262126p.A1722Vc.5165C>TSubstitution - Missense
TMEM259ENSG00000182087ENST00000356663p.R284Rc.852G>ASubstitution - coding silent
PCDH19ENSG00000165194ENST00000373034p.S359Sc.1077C>TSubstitution - coding silent
SMN1ENSG00000172062ENST00000380707p.R281Tc.842G>CSubstitution - Missense
KAT2AENSG00000108773ENST00000225916p.L442Mc.1324C>ASubstitution - Missense
NOP14ENSG00000087269ENST00000398071p.F801fs*3c.2403delTDeletion - Frameshift
USH2AENSG00000042781ENST00000366943p.Q1616Rc.4847A>GSubstitution - Missense
CRB1ENSG00000134376ENST00000535699p.?c.446-5A>GUnknown
STK40ENSG00000196182ENST00000373130p.P247Pc.741C>TSubstitution - coding silent
PTGER3ENSG00000050628ENST00000354608p.L337Lc.1009C>TSubstitution - coding silent
HDGFENSG00000143321ENST00000368209p.D127Dc.381C>TSubstitution - coding silent
ENST00000434489p.G214Dc.641G>ASubstitution - Missense
OR5T1ENSG00000181698ENST00000313033p.A198Vc.593C>TSubstitution - Missense
SPTBN2ENSG00000173898ENST00000529997p.L1584Lc.4752G>ASubstitution - coding silent
DLC1ENSG00000164741ENST00000276297p.R798Rc.2394C>TSubstitution - coding silent
KREMEN1ENSG00000183762ENST00000400335p.R264Rc.790A>CSubstitution - coding silent
BRD4ENSG00000141867ENST00000360016p.S563fs*21c.1687delADeletion - Frameshift
VRTNENSG00000133980ENST00000256362p.A89Vc.266C>TSubstitution - Missense
SYTL5ENSG00000147041ENST00000456733p.R453Kc.1358G>ASubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.G545Dc.1634G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.E1970Dc.5910G>CSubstitution - Missense
ARFGEF1ENSG00000066777ENST00000262215p.P1553fs*7c.4655_4656insCInsertion - Frameshift
TDGENSG00000139372ENST00000392872p.S85fs*19c.245_246insAInsertion - Frameshift
ATP2B3ENSG00000067842ENST00000349466p.P1175fs*12c.3518delCDeletion - Frameshift
NRG1ENSG00000157168ENST00000521670p.K91fs*24c.266delADeletion - Frameshift
UNC13AENSG00000130477ENST00000428389p.V1566Mc.4696G>ASubstitution - Missense
TSNAXENSG00000116918ENST00000366639p.R61Qc.182G>ASubstitution - Missense
AOC1ENSG00000002726ENST00000360937p.C181Yc.542G>ASubstitution - Missense
RBM12ENSG00000244462ENST00000374104p.A900Vc.2699C>TSubstitution - Missense
COL6A6ENSG00000206384ENST00000358511p.A1801Tc.5401G>ASubstitution - Missense
TFECENSG00000105967ENST00000265440p.K141fs*42c.422delADeletion - Frameshift
LRIT2ENSG00000204033ENST00000372113p.P478Hc.1433C>ASubstitution - Missense
LINGO1ENSG00000169783ENST00000355300p.P452Pc.1356G>ASubstitution - coding silent
KRT3ENSG00000186442ENST00000417996p.A33Pc.97G>CSubstitution - Missense
GPR18ENSG00000125245ENST00000340807p.L187Pc.560T>CSubstitution - Missense
CAPN2ENSG00000162909ENST00000295006p.A263Tc.787G>ASubstitution - Missense
PARP1ENSG00000143799ENST00000366794p.N440Sc.1319A>GSubstitution - Missense
EDNRBENSG00000136160ENST00000446573p.G9Gc.27A>GSubstitution - coding silent
HECTD4ENSG00000173064ENST00000377560p.P2228Pc.6684G>ASubstitution - coding silent
ENST00000377560_v62p.S739Rc.2215A>CSubstitution - Missense
EIF4G3ENSG00000075151ENST00000544689p.V107fs*1c.318delADeletion - Frameshift
NR4A1ENSG00000123358ENST00000243050p.L487Mc.1459C>ASubstitution - Missense
STAC3ENSG00000185482ENST00000332782p.Y344Hc.1030T>CSubstitution - Missense
A2ML1ENSG00000166535ENST00000299698p.?c.2234+4A>CUnknown
EXOSC1ENSG00000171311ENST00000370902p.P65Sc.193C>TSubstitution - Missense
MMRN2ENSG00000173269ENST00000372027p.L450Lc.1348C>TSubstitution - coding silent
AKT3ENSG00000117020ENST00000366539p.R465Qc.1394G>ASubstitution - Missense
SSH3ENSG00000172830ENST00000308127p.T605Tc.1815C>GSubstitution - coding silent
DNMBPENSG00000107554ENST00000342239p.N961Sc.2882A>GSubstitution - Missense
NADSYN1ENSG00000172890ENST00000319023p.G456Cc.1366G>TSubstitution - Missense
KDM2AENSG00000173120ENST00000529006p.S386Sc.1158C>TSubstitution - coding silent
PPP1CAENSG00000172531ENST00000376745p.L108Lc.322C>TSubstitution - coding silent
CARNS1ENSG00000172508ENST00000445895p.V602Mc.1804G>ASubstitution - Missense
LRRC16BENSG00000186648ENST00000342740p.L1339Lc.4015C>TSubstitution - coding silent
BUB3ENSG00000154473ENST00000368865p.?c.265+8G>AUnknown
BUB3ENSG00000154473ENST00000368865p.?c.265+8G>AUnknown
FAM154BENSG00000188659ENST00000339465p.R88Rc.264A>GSubstitution - coding silent
ENST00000420314p.C1036Cc.3108C>TSubstitution - coding silent
SAAL1ENSG00000166788ENST00000524803p.Q388Qc.1164A>GSubstitution - coding silent
BSDC1ENSG00000160058ENST00000446293p.E295Qc.883G>CSubstitution - Missense
STARD13ENSG00000133121ENST00000336934p.P21Hc.62C>ASubstitution - Missense
CNTN5ENSG00000149972ENST00000524871p.Q486Qc.1458A>GSubstitution - coding silent
AP2A2ENSG00000183020ENST00000448903p.V427Vc.1281C>TSubstitution - coding silent
STPG1ENSG00000001460ENST00000374409p.T243fs*31c.725_726insAInsertion - Frameshift
TMEM117ENSG00000139173ENST00000266534p.E360Dc.1080A>CSubstitution - Missense
ZDHHC22ENSG00000177108ENST00000319374p.I170Ic.510C>TSubstitution - coding silent
HEATR4ENSG00000187105ENST00000553558p.C169Yc.506G>ASubstitution - Missense
C10orf71ENSG00000177354ENST00000374144p.G1121Gc.3363C>TSubstitution - coding silent
SNX29ENSG00000048471ENST00000306030p.R358Cc.1072C>TSubstitution - Missense
PXNENSG00000089159ENST00000424649p.P51fs*16c.152delCDeletion - Frameshift
STATHENSG00000126549ENST00000246895p.K25Nc.75A>TSubstitution - Missense
CBSENSG00000160200ENST00000398168p.A237Tc.709G>ASubstitution - Missense
ENST00000356127p.?c.25963-1G>TUnknown
DNMT3BENSG00000088305ENST00000328111p.M302Ic.906G>ASubstitution - Missense
DCCENSG00000187323ENST00000442544p.P1266Lc.3797C>TSubstitution - Missense
HAUS1ENSG00000152240ENST00000282058p.L40Lc.120T>CSubstitution - coding silent
MGAMENSG00000257335ENST00000475668p.F1382Fc.4146C>TSubstitution - coding silent
CYP11B2ENSG00000179142ENST00000323110p.H466Hc.1398C>TSubstitution - coding silent
RBM10ENSG00000182872ENST00000377604p.R895Wc.2683C>TSubstitution - Missense
SEC24BENSG00000138802ENST00000265175p.N1024Sc.3071A>GSubstitution - Missense
PAK7ENSG00000101349ENST00000378429p.G34Sc.100G>ASubstitution - Missense
NLRC3ENSG00000167984ENST00000324659p.A44Vc.131C>TSubstitution - Missense
SEMA6AENSG00000092421ENST00000343348p.R806Rc.2418G>ASubstitution - coding silent
IGSF10ENSG00000152580ENST00000282466p.P637Sc.1909C>TSubstitution - Missense
ANKRD33BENSG00000164236ENST00000296657p.R202*c.604C>TSubstitution - Nonsense
XIRP1ENSG00000168334ENST00000340369p.W1135fs*2c.3402delGDeletion - Frameshift
SLC16A13ENSG00000174327ENST00000308027p.D9fs*50c.19delCDeletion - Frameshift
LLGL2ENSG00000073350ENST00000167462p.R642Rc.1926C>TSubstitution - coding silent
ACADVLENSG00000072778ENST00000356839p.Q475Hc.1425G>TSubstitution - Missense
ZSCAN5DENSG00000267908ENST00000600684p.S48Ic.143G>TSubstitution - Missense
SMEK2ENSG00000138041ENST00000272313p.S460fs*2c.1372_1373insAInsertion - Frameshift
PARVGENSG00000138964ENST00000422871p.A278Ac.834G>ASubstitution - coding silent
NM_006343p.G677Rc.2029G>ASubstitution - Missense
NM_000047.1p.V541Dc.1622T>ASubstitution - Missense
REPS2ENSG00000169891ENST00000357277p.R230Rc.690G>ASubstitution - coding silent
JARID2ENSG00000008083ENST00000341776p.L892Ic.2674C>ASubstitution - Missense
ARMC6ENSG00000105676ENST00000535612p.S64Lc.191C>TSubstitution - Missense
CYSLTR1ENSG00000173198ENST00000373304p.G300fs*18c.899delGDeletion - Frameshift
RBP2ENSG00000114113ENST00000232217p.T52Kc.155C>ASubstitution - Missense
VGLL4ENSG00000144560ENST00000430365p.L223Lc.669G>ASubstitution - coding silent
NM_006596.3p.C512Rc.1534T>CSubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.N634Nc.1902C>TSubstitution - coding silent
ZC3H4ENSG00000130749ENST00000253048p.?c.1218+10G>AUnknown
CYP4V2ENSG00000145476ENST00000378802p.S227Sc.681T>CSubstitution - coding silent
TRMT11ENSG00000066651ENST00000334379p.K262Kc.786G>ASubstitution - coding silent
SMC2ENSG00000136824ENST00000286398p.S1046fs*8c.3130_3131insTInsertion - Frameshift
ATAD2ENSG00000156802ENST00000287394p.A81Vc.242C>TSubstitution - Missense
DSTENSG00000151914ENST00000244364p.A3856Vc.11567C>TSubstitution - Missense
DSTENSG00000151914ENST00000244364p.R4908*c.14722C>TSubstitution - Nonsense
EP300ENSG00000100393ENST00000263253p.M1470fs*26c.4402delADeletion - Frameshift
ZNF711ENSG00000147180ENST00000373165p.Q569fs*5c.1701_1702insCInsertion - Frameshift
ENST00000338626p.E62Ec.186G>ASubstitution - coding silent
POLKENSG00000122008ENST00000515295p.H105Yc.313C>TSubstitution - Missense
MAPK8IP2ENSG00000008735ENST00000329492p.A550Ac.1650G>ASubstitution - coding silent
DMGDHENSG00000132837ENST00000255189p.P467Sc.1399C>TSubstitution - Missense
ZNF292ENSG00000188994ENST00000339907p.D1201fs*80c.3595delADeletion - Frameshift
PCDHGB2ENSG00000253910ENST00000522605p.A686Tc.2056G>ASubstitution - Missense
PRODH2ENSG00000250799ENST00000301175p.R141*c.421C>TSubstitution - Nonsense
TNIKENSG00000154310ENST00000436636p.G575Gc.1725A>GSubstitution - coding silent
ENST00000576222_v68p.P569Sc.1705C>TSubstitution - Missense
NOGENSG00000183691ENST00000332822p.G71Vc.212G>TSubstitution - Missense
CDHR3ENSG00000128536ENST00000317716p.G215Cc.643G>TSubstitution - Missense
CDHR3ENSG00000128536ENST00000542731p.G215Cc.643G>TSubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.P523Lc.1568C>TSubstitution - Missense
PSPHENSG00000146733ENST00000395471p.I80Vc.238A>GSubstitution - Missense
NM_005334.1p.S1410Lc.4229C>TSubstitution - Missense
SCN2AENSG00000136531ENST00000375427p.R275*c.823C>TSubstitution - Nonsense
TGENSG00000042832ENST00000220616p.?c.5468-9T>CUnknown
MAP3K13ENSG00000073803ENST00000424227p.S649Sc.1947C>ASubstitution - coding silent
DGKGENSG00000058866ENST00000265022p.S779Nc.2336G>ASubstitution - Missense
KLHL2ENSG00000109466ENST00000226725p.D187Ec.561T>GSubstitution - Missense
PKN3ENSG00000160447ENST00000291906p.P549Sc.1645C>TSubstitution - Missense
ESM1ENSG00000164283ENST00000381405p.Q118Qc.354G>ASubstitution - coding silent
WIZENSG00000011451ENST00000263381p.R58fs*16c.167_168insCInsertion - Frameshift
OR52I1ENSG00000232268ENST00000450052p.F183Sc.548T>CSubstitution - Missense
WBP4ENSG00000120688ENST00000379487p.?c.262+3_262+9delaaaaaaaUnknown
DYRK3ENSG00000143479ENST00000367106p.P116Lc.347C>TSubstitution - Missense
DZIP1ENSG00000134874ENST00000361396p.P719Ac.2155C>GSubstitution - Missense
OLFM3ENSG00000118733ENST00000370103p.D332Dc.996T>CSubstitution - coding silent
DNAJC3ENSG00000102580ENST00000376795p.V22Ac.65T>CSubstitution - Missense
PFKPENSG00000067057ENST00000381075p.L645Lc.1933C>TSubstitution - coding silent
KIAA1462ENSG00000165757ENST00000375377p.R826Hc.2477G>ASubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.Q2529Hc.7587G>TSubstitution - Missense
ASB8ENSG00000177981ENST00000317697p.L274Ic.820C>ASubstitution - Missense
FAM19A2ENSG00000198673ENST00000416284p.V27fs*32c.75delGDeletion - Frameshift
ENST00000328408p.F271fs*2c.808delTDeletion - Frameshift
KIF5AENSG00000155980ENST00000455537p.R655Rc.1965G>ASubstitution - coding silent
FADS1ENSG00000149485ENST00000350997p.K255fs*14c.765delADeletion - Frameshift
NEDD1ENSG00000139350ENST00000266742p.?c.490-4A>GUnknown
DHRS2ENSG00000100867ENST00000344777p.Q252Qc.756G>ASubstitution - coding silent
LRRC16BENSG00000186648ENST00000342740p.H664fs*51c.1988_1989insCInsertion - Frameshift
FAM111AENSG00000166801ENST00000528737p.V213fs*25c.634_635delTGDeletion - Frameshift
SERF2ENSG00000140264ENST00000409960p.G141Dc.422G>ASubstitution - Missense
GANCENSG00000214013ENST00000318010p.G533Dc.1598G>ASubstitution - Missense
PLEKHO1ENSG00000023902ENST00000369124p.F112Vc.334T>GSubstitution - Missense
ENST00000398860p.?c.1155+9C>TUnknown
TET1ENSG00000138336ENST00000373644p.L1107Fc.3319C>TSubstitution - Missense
CHST3ENSG00000122863ENST00000373115p.Q54Rc.161A>GSubstitution - Missense
ENST00000567107_v68p.Q231Kc.691C>ASubstitution - Missense
GABRB3ENSG00000166206ENST00000541819p.L63Ic.187C>ASubstitution - Missense
PIK3C2AENSG00000011405ENST00000265970p.?c.3036-10G>AUnknown
ADCENSG00000142920ENST00000373443p.S168Nc.503G>ASubstitution - Missense
NM_004452.2p.A110Vc.329C>TSubstitution - Missense
ENST00000298047_v61p.V2380Ic.7138G>ASubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.S2876Ic.8627G>TSubstitution - Missense
CD163L1ENSG00000177675ENST00000313599p.N1084Dc.3250A>GSubstitution - Missense
SPTY2D1ENSG00000179119ENST00000336349p.K157Mc.470A>TSubstitution - Missense
CLSTN3ENSG00000139182ENST00000266546p.L426Qc.1277T>ASubstitution - Missense
KCNA10ENSG00000143105ENST00000369771p.R118fs*8c.352delADeletion - Frameshift
VTI1BENSG00000100568ENST00000554659p.S79Sc.237T>CSubstitution - coding silent
SRSF5ENSG00000100650ENST00000451983p.A74Vc.221C>TSubstitution - Missense
SU_SMG1p.P3575Pc.10725A>CSubstitution - coding silent
KCNH5ENSG00000140015ENST00000394968p.T596Ic.1787C>TSubstitution - Missense
BDKRB2ENSG00000168398ENST00000554311p.G109Rc.325G>ASubstitution - Missense
NM_006255p.V432fs*9c.1287_1288insTInsertion - Frameshift
STILENSG00000123473ENST00000337817p.E586Kc.1756G>ASubstitution - Missense
FAF1ENSG00000185104ENST00000396153p.M533fs*26c.1587_1588insGAInsertion - Frameshift
IPO8ENSG00000133704ENST00000256079p.A393Tc.1177G>ASubstitution - Missense
C12orf71ENSG00000214700ENST00000429849p.C35fs*2c.97_98insCInsertion - Frameshift
MYO1BENSG00000128641ENST00000392318p.R38Hc.113G>ASubstitution - Missense
ENST00000344049p.A195fs*21c.579delGDeletion - Frameshift
CHD5ENSG00000116254ENST00000262450p.?c.5003-6C>TUnknown
SGIP1ENSG00000118473ENST00000435165p.T191Tc.573A>GSubstitution - coding silent
TNFSF13BENSG00000102524ENST00000375887p.?c.595-1G>TUnknown
CASS4ENSG00000087589ENST00000360314p.P91Lc.272C>TSubstitution - Missense
EPB41L1ENSG00000088367ENST00000338074p.P266Lc.797C>TSubstitution - Missense
NTF4ENSG00000225950ENST00000301411p.V200Ic.598G>ASubstitution - Missense
DPY19L3ENSG00000178904ENST00000342179p.L47Lc.141G>ASubstitution - coding silent
TOXENSG00000198846ENST00000361421p.K237Rc.710A>GSubstitution - Missense
C19orf38ENSG00000214212ENST00000397820p.H87Yc.259C>TSubstitution - Missense
ENPP7ENSG00000182156ENST00000328313p.N267fs*10c.798_799insCInsertion - Frameshift
TRIM35ENSG00000104228ENST00000305364p.V291Ic.871G>ASubstitution - Missense
IMPDH1ENSG00000106348ENST00000338791p.?c.1551-4G>AUnknown
PRKACGENSG00000165059ENST00000377276p.R286Rc.856A>CSubstitution - coding silent
FLNCENSG00000128591ENST00000325888p.D1816Nc.5446G>ASubstitution - Missense
KIAA0319ENSG00000137261ENST00000378214p.L790Lc.2370G>ASubstitution - coding silent
KRT31ENSG00000094796ENST00000251645p.E212Ec.636G>ASubstitution - coding silent
ENST00000505256p.?c.4437+9C>AUnknown
LCTENSG00000115850ENST00000264162p.D933Nc.2797G>ASubstitution - Missense
RAB6CENSG00000222014ENST00000410061p.R115Ic.344G>TSubstitution - Missense
PCSK5ENSG00000099139ENST00000545128p.H1672Rc.5015A>GSubstitution - Missense
BZRAP1ENSG00000005379ENST00000343736p.?c.750+8G>AUnknown
KIAA0922ENSG00000121210ENST00000409959p.A696Tc.2086G>ASubstitution - Missense
SMC2ENSG00000136824ENST00000286398p.S1046fs*8c.3130_3131insTInsertion - Frameshift
OR13C5ENSG00000255800ENST00000374779p.L212Lc.634T>CSubstitution - coding silent
IKBKAPENSG00000070061ENST00000374647p.?c.2736+2T>CUnknown
DSTENSG00000151914ENST00000370769p.H6145Yc.18433C>TSubstitution - Missense
ASIC3ENSG00000213199ENST00000349064p.V89Ic.265G>ASubstitution - Missense
PCDHGA2ENSG00000081853ENST00000394576p.P285Lc.854C>TSubstitution - Missense
CHPF2ENSG00000033100ENST00000035307p.S648fs*13c.1935delCDeletion - Frameshift
PCDHGB2ENSG00000253910ENST00000522605p.L713Lc.2139G>ASubstitution - coding silent
TNIKENSG00000154310ENST00000436636p.Q263*c.787C>TSubstitution - Nonsense
NM_022835.1p.?c.1361-6C>TUnknown
ENST00000539307p.L12Lc.36G>ASubstitution - coding silent
RADILENSG00000157927ENST00000399583p.A721Tc.2161G>ASubstitution - Missense
UBR5ENSG00000104517ENST00000520539p.E1150fs*130c.3447delADeletion - Frameshift
ENST00000360944p.D43Nc.127G>ASubstitution - Missense
PDE4DENSG00000113448ENST00000507116p.D504Dc.1512C>TSubstitution - coding silent
MUTENSG00000146085ENST00000274813p.G426Rc.1276G>ASubstitution - Missense
TNXBENSG00000168477ENST00000375244p.R196Hc.587G>ASubstitution - Missense
EEF2KENSG00000103319ENST00000263026p.P394Lc.1181C>TSubstitution - Missense
VWA3AENSG00000175267ENST00000389398p.N215Dc.643A>GSubstitution - Missense
NEBENSG00000183091ENST00000409198p.A1880Sc.5638G>TSubstitution - Missense
MAFBENSG00000204103ENST00000373313p.R249Pc.746G>CSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.M796Ic.2388G>ASubstitution - Missense
KIAA0232ENSG00000170871ENST00000307659p.G94fs*10c.278delGDeletion - Frameshift
ENSG00000187905ENST00000342608p.D328Nc.982G>ASubstitution - Missense
ATL3ENSG00000184743ENST00000332645p.*569*c.1707G>ASubstitution - coding silent
MYO16ENSG00000041515ENST00000251041p.F842fs*17c.2518delTDeletion - Frameshift
PPP3CBENSG00000107758ENST00000394822p.I233Tc.698T>CSubstitution - Missense
DIP2CENSG00000151240ENST00000540204p.A134Vc.401C>TSubstitution - Missense
ATP13A5ENSG00000187527ENST00000342358p.S1008Nc.3023G>ASubstitution - Missense
ATP13A5ENSG00000187527ENST00000342358p.T594Ic.1781C>TSubstitution - Missense
BCAS1ENSG00000064787ENST00000371440p.E266Kc.796G>ASubstitution - Missense
MAP3K15ENSG00000180815ENST00000338883p.N174fs*16c.521_522insAAInsertion - Frameshift
IFRD2ENSG00000214706ENST00000429673p.C473Yc.1418G>ASubstitution - Missense
MYO9AENSG00000066933ENST00000424560p.Y1422fs*8c.4264delTDeletion - Frameshift
WIPF1ENSG00000115935ENST00000409891p.P347Pc.1041G>ASubstitution - coding silent
ABCA12ENSG00000144452ENST00000389661p.A35Tc.103G>ASubstitution - Missense
SCN1AENSG00000144285ENST00000423058p.Y1031Yc.3093T>CSubstitution - coding silent
NFASCENSG00000163531ENST00000367172p.Q4*c.10C>TSubstitution - Nonsense
KCNK1ENSG00000135750ENST00000446915p.?c.505+6T>CUnknown
GRIK3ENSG00000163873ENST00000373093p.G804Rc.2410G>ASubstitution - Missense
PTPRFENSG00000142949ENST00000422171p.G1203Sc.3607G>ASubstitution - Missense
ADRA1AENSG00000120907ENST00000358857p.T111Ac.331A>GSubstitution - Missense
SLX4IPENSG00000149346ENST00000334534p.S328fs*19c.977delADeletion - Frameshift
CELSR1ENSG00000075275ENST00000262738p.G614fs*54c.1841delGDeletion - Frameshift
LINGO4ENSG00000213171ENST00000368820p.P383fs*14c.1148delCDeletion - Frameshift
NCANENSG00000130287ENST00000252575p.R637Cc.1909C>TSubstitution - Missense
XM_291314.4p.Y141Yc.423C>TSubstitution - coding silent
GDF6ENSG00000156466ENST00000287020p.R91Rc.273C>TSubstitution - coding silent
ZNF330ENSG00000109445ENST00000262990p.K5fs*18c.7delADeletion - Frameshift
PCDHB8ENSG00000120322ENST00000239444p.Y752Yc.2256C>TSubstitution - coding silent
H2AFY2ENSG00000099284ENST00000373255p.T36Mc.107C>TSubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.P1571Pc.4713G>ASubstitution - coding silent
PCENSG00000173599ENST00000393955p.N510Nc.1530C>TSubstitution - coding silent
ZC3H13ENSG00000123200ENST00000282007p.K1006fs*31c.3018delADeletion - Frameshift
ABCB10ENSG00000135776ENST00000344517p.R504Hc.1511G>ASubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.F755fs*28c.2265delTDeletion - Frameshift
ROBO1ENSG00000169855ENST00000464233p.F755fs*28c.2265delTDeletion - Frameshift
SLC22A23ENSG00000137266ENST00000380302p.G162Rc.484G>ASubstitution - Missense
OR52I2ENSG00000226288ENST00000312614p.V193Mc.577G>ASubstitution - Missense
GBP1ENSG00000117228ENST00000370473p.D140Yc.418G>TSubstitution - Missense
OSMRENSG00000145623ENST00000274276p.Q273Kc.817C>ASubstitution - Missense
EML5ENSG00000165521ENST00000554922p.I851Ic.2553T>CSubstitution - coding silent
MROH7ENSG00000184313ENST00000421030p.?c.3285+1G>AUnknown
XM_172801.3p.D936Dc.2808C>TSubstitution - coding silent
ST18ENSG00000147488ENST00000276480p.R62Qc.185G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.T1042Ic.3125C>TSubstitution - Missense
NKX2-2ENSG00000125820ENST00000377142p.A55Vc.164C>TSubstitution - Missense
KIF16BENSG00000089177ENST00000408042p.R52Qc.155G>ASubstitution - Missense
HOXB3ENSG00000120093ENST00000311626p.K205delKc.613_615delAAGDeletion - In frame
MUC16ENSG00000181143ENST00000397910p.T7137Ac.21409A>GSubstitution - Missense
SNX5ENSG00000089006ENST00000377768p.L376Lc.1128A>GSubstitution - coding silent
AK5ENSG00000154027ENST00000354567p.D333Yc.997G>TSubstitution - Missense
IL1RAPL2ENSG00000189108ENST00000372582p.K349fs*3c.1042delADeletion - Frameshift
VRK3ENSG00000105053ENST00000316763p.C22Yc.65G>ASubstitution - Missense
RAB40AENSG00000172476ENST00000372633p.E165Ac.494A>CSubstitution - Missense
ZNF287ENSG00000141040ENST00000395824p.Y272Yc.816C>TSubstitution - coding silent
NACC1ENSG00000160877ENST00000292431p.P501Rc.1502C>GSubstitution - Missense
KRTAP12-3ENSG00000205439ENST00000397907p.T41Tc.123G>ASubstitution - coding silent
DNM2ENSG00000079805ENST00000359692p.S184Sc.552C>ASubstitution - coding silent
CARD14ENSG00000141527ENST00000573882p.A367Vc.1100C>TSubstitution - Missense
MYOM1ENSG00000101605ENST00000356443p.D91Gc.272A>GSubstitution - Missense
KRT31ENSG00000094796ENST00000251645p.?c.589-9C>AUnknown
CCR7ENSG00000126353ENST00000246657p.H127Yc.379C>TSubstitution - Missense
ARL13BENSG00000169379ENST00000394222p.I265Vc.793A>GSubstitution - Missense
SEPT11ENSG00000138758ENST00000264893p.P156Tc.466C>ASubstitution - Missense
ZNF423ENSG00000102935ENST00000262383p.I911Tc.2732T>CSubstitution - Missense
ARFRP1ENSG00000101246ENST00000359715p.V188Mc.562G>ASubstitution - Missense
NLRP12ENSG00000142405ENST00000345770p.P454Pc.1362C>TSubstitution - coding silent
MYH15ENSG00000144821ENST00000273353p.A338Vc.1013C>TSubstitution - Missense
CLUAP1ENSG00000103351ENST00000576634p.S326Gc.976A>GSubstitution - Missense
ENST00000354939p.A28Vc.83C>TSubstitution - Missense
CASP8ENSG00000064012ENST00000264275p.C329Yc.986G>ASubstitution - Missense
KIAA1211LENSG00000196872ENST00000397899p.A14Tc.40G>ASubstitution - Missense
SLC25A35ENSG00000125434ENST00000380067p.G148Sc.442G>ASubstitution - Missense
SLC25A35ENSG00000125434ENST00000577745p.G148Sc.442G>ASubstitution - Missense
ENST00000543338p.S393Cc.1178C>GSubstitution - Missense
LONP1ENSG00000196365ENST00000360614p.T862Tc.2586G>ASubstitution - coding silent
OTTHUMT00000056248.1p.H2148Hc.6444C>TSubstitution - coding silent
KCNU1ENSG00000215262ENST00000399881p.?c.996-2A>GUnknown
ENST00000318252p.D996Dc.2988C>TSubstitution - coding silent
COL25A1ENSG00000188517ENST00000399126p.?c.1153-9C>TUnknown
ENST00000405167p.T2123Ic.6368C>TSubstitution - Missense
KIAA1324LENSG00000164659ENST00000450689p.?c.2686-5T>AUnknown
CTAG2ENSG00000126890ENST00000247306p.H209Yc.625C>TSubstitution - Missense
CREB5ENSG00000146592ENST00000396298p.R240Wc.718C>TSubstitution - Missense
CDH18ENSG00000145526ENST00000382275p.C591Yc.1772G>ASubstitution - Missense
NHSL1ENSG00000135540ENST00000342260p.R686Cc.2056C>TSubstitution - Missense
ENST00000326474_v71p.S187Lc.560C>TSubstitution - Missense
ESRP2ENSG00000103067ENST00000473183p.T234Tc.702G>ASubstitution - coding silent
MED12LENSG00000144893ENST00000474524p.P1673Lc.5018C>TSubstitution - Missense
IL1RL2ENSG00000115598ENST00000441515p.I290Ic.870C>TSubstitution - coding silent
ENST00000354963p.?c.707-4G>AUnknown
GLTSCR1ENSG00000063169ENST00000396720p.G88Rc.262G>ASubstitution - Missense
SMPD4ENSG00000136699ENST00000409031p.A491Ac.1473G>ASubstitution - coding silent
NM_148674.1p.V251Dc.752T>ASubstitution - Missense
FAM161AENSG00000170264ENST00000307507p.S334Sc.1002A>GSubstitution - coding silent
CAND2ENSG00000144712ENST00000456430p.S1224Sc.3672C>TSubstitution - coding silent
FAM50AENSG00000071859ENST00000393600p.R289Wc.865C>TSubstitution - Missense
DMDENSG00000198947ENST00000378677p.D2422Yc.7264G>TSubstitution - Missense
ZUFSPENSG00000153975ENST00000368576p.T494Ic.1481C>TSubstitution - Missense
BRPF3ENSG00000096070ENST00000357641p.E1159Dc.3477A>CSubstitution - Missense
FREM1ENSG00000164946ENST00000422223p.N1046Sc.3137A>GSubstitution - Missense
RPS6ENSG00000137154ENST00000380394p.C12Yc.35G>ASubstitution - Missense
MARCH1ENSG00000145416ENST00000503008p.E6Ec.18A>GSubstitution - coding silent
MYO5AENSG00000197535ENST00000358212p.D401Nc.1201G>ASubstitution - Missense
KCNK1ENSG00000135750ENST00000366620p.?c.403+6T>CUnknown
USP24ENSG00000162402ENST00000294383p.M2128Vc.6382A>GSubstitution - Missense
MPDZENSG00000107186ENST00000319217p.T451Ac.1351A>GSubstitution - Missense
ENST00000539533_v68p.A546Vc.1637C>TSubstitution - Missense
PROCENSG00000115718ENST00000453608p.P241Hc.722C>ASubstitution - Missense
TNK2ENSG00000061938ENST00000316664p.R127Hc.380G>ASubstitution - Missense
DEPDC5ENSG00000100150ENST00000536766p.?c.279+5G>AUnknown
MIA3ENSG00000154305ENST00000344922p.N168fs*15c.497delADeletion - Frameshift
NKX3-1ENSG00000167034ENST00000380871p.R176Cc.526C>TSubstitution - Missense
CTNNB1ENSG00000168036ENST00000349496p.S33Yc.98C>ASubstitution - Missense
KLHL7ENSG00000122550ENST00000545771p.A83Vc.248C>TSubstitution - Missense
KCNK9ENSG00000169427ENST00000522317p.P291Lc.872C>TSubstitution - Missense
MNX1ENSG00000130675ENST00000543409p.Q101Lc.302A>TSubstitution - Missense
MPDZENSG00000107186ENST00000319217p.D123Nc.367G>ASubstitution - Missense
TRMT6ENSG00000089195ENST00000203001p.K153fs*9c.458delADeletion - Frameshift
TTNENSG00000155657ENST00000342992p.R1012*c.3034C>TSubstitution - Nonsense
SLC22A23ENSG00000137266ENST00000406686p.G443Rc.1327G>ASubstitution - Missense
ZNF540ENSG00000171817ENST00000316433p.M149fs*12c.439delADeletion - Frameshift
FBN3ENSG00000142449ENST00000270509p.G1577fs*72c.4730delGDeletion - Frameshift
ABCA6ENSG00000154262ENST00000284425p.L306fs*7c.917delTDeletion - Frameshift
SSH2ENSG00000141298ENST00000269033p.F653fs*4c.1959delTDeletion - Frameshift
TFAP4ENSG00000090447ENST00000204517p.R293Qc.878G>ASubstitution - Missense
DGKZENSG00000149091ENST00000343674p.D198Dc.594C>TSubstitution - coding silent
SORBS1ENSG00000095637ENST00000371228p.A17Vc.50C>TSubstitution - Missense
ZSWIM8ENSG00000214655ENST00000398706p.P542Sc.1624C>TSubstitution - Missense
FBXO22ENSG00000167196ENST00000308275p.I270Ic.810T>CSubstitution - coding silent
MYCBP2ENSG00000005810ENST00000357337p.T4088Tc.12264C>TSubstitution - coding silent
MCRS1ENSG00000187778ENST00000357123p.R63Mc.188G>TSubstitution - Missense
CDK11BENSG00000248333ENST00000407249p.N37fs*17c.110delADeletion - Frameshift
AVILENSG00000135407ENST00000257861p.F790Sc.2369T>CSubstitution - Missense
CD5LENSG00000073754ENST00000368174p.L246Lc.738A>GSubstitution - coding silent
FHAD1ENSG00000142621ENST00000375999p.F534Cc.1601T>GSubstitution - Missense
FCRL3ENSG00000160856ENST00000368184p.G484Gc.1452G>ASubstitution - coding silent
LOXL4ENSG00000138131ENST00000260702p.C400Cc.1200C>TSubstitution - coding silent
NOTCH2ENSG00000134250ENST00000256646p.R1231Wc.3691C>TSubstitution - Missense
CCDC88BENSG00000168071ENST00000356786p.?c.389-8C>TUnknown
NPAP1ENSG00000185823ENST00000329468p.N683Dc.2047A>GSubstitution - Missense
TRPM1ENSG00000134160ENST00000397795p.V44Ac.131T>CSubstitution - Missense
TIGD3ENSG00000173825ENST00000309880p.R68Cc.202C>TSubstitution - Missense
SLC25A45ENSG00000162241ENST00000398802p.R235*c.703A>TSubstitution - Nonsense
SUCOENSG00000094975ENST00000263688p.A37Ac.111G>ASubstitution - coding silent
NEURL1ENSG00000107954ENST00000369780p.R548Rc.1644C>TSubstitution - coding silent
CNNM2ENSG00000148842ENST00000369878p.R679Cc.2035C>TSubstitution - Missense
HS3ST6ENSG00000162040ENST00000443547p.R150Qc.449G>ASubstitution - Missense
DCAF5ENSG00000139990ENST00000341516p.?c.215-4T>AUnknown
TVP23AENSG00000166676ENST00000299866p.W75*c.225G>ASubstitution - Nonsense
ZDHHC22ENSG00000177108ENST00000319374p.I170Ic.510C>TSubstitution - coding silent
PXNENSG00000089159ENST00000228307p.P51fs*16c.152delCDeletion - Frameshift
UBE2J2ENSG00000160087ENST00000400930p.T154Mc.461C>TSubstitution - Missense
MED13LENSG00000123066ENST00000281928p.S629Sc.1887A>GSubstitution - coding silent
ZNF106ENSG00000103994ENST00000263805p.H149Yc.445C>TSubstitution - Missense
DCST2ENSG00000163354ENST00000368424p.V166Ic.496G>ASubstitution - Missense
CTSCENSG00000109861ENST00000227266p.G386Ec.1157G>ASubstitution - Missense
CACNA1SENSG00000081248ENST00000362061p.G689Gc.2067T>CSubstitution - coding silent
DLG2ENSG00000150672ENST00000376104p.V107Mc.319G>ASubstitution - Missense
RFX7ENSG00000181827ENST00000317318p.T651Tc.1953A>GSubstitution - coding silent
PIK3C2BENSG00000133056ENST00000367187p.N1332Ic.3995A>TSubstitution - Missense
ERC1ENSG00000082805ENST00000397203p.K772Nc.2316G>TSubstitution - Missense
SU_QSKp.R1024Qc.3071G>ASubstitution - Missense
MRGPRX1ENSG00000170255ENST00000302797p.E157Kc.469G>ASubstitution - Missense
LGR5ENSG00000139292ENST00000266674p.P415Lc.1244C>TSubstitution - Missense
CLCA1ENSG00000016490ENST00000234701p.A846Vc.2537C>TSubstitution - Missense
MC5RENSG00000176136ENST00000324750p.M274Kc.821T>ASubstitution - Missense
PPP1R9AENSG00000158528ENST00000433360p.A820fs*24c.2453delADeletion - Frameshift
HIST1H1CENSG00000187837ENST00000343677p.A135Vc.404C>TSubstitution - Missense
GNAO1ENSG00000087258ENST00000262494p.?c.119-4A>GUnknown
ENST00000340816p.S51Lc.152C>TSubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.D1362Dc.4086C>TSubstitution - coding silent
RETNLBENSG00000163515ENST00000295755p.S41Nc.122G>ASubstitution - Missense
NM_006226.1p.R482*c.1444C>TSubstitution - Nonsense
PIK3R5ENSG00000141506ENST00000447110p.G265Gc.795C>TSubstitution - coding silent
NM_020137p.L386fs*35c.1156delCDeletion - Frameshift
BMP2KENSG00000138756ENST00000502871p.P384Hc.1151C>ASubstitution - Missense
ZNF347ENSG00000197937ENST00000334197p.Q728*c.2182C>TSubstitution - Nonsense
DIDO1ENSG00000101191ENST00000370371p.G298Dc.893G>ASubstitution - Missense
NRIP1ENSG00000180530ENST00000400199p.T287fs*50c.859delADeletion - Frameshift
GRM1ENSG00000152822ENST00000392299p.A49Vc.146C>TSubstitution - Missense
ADAMTS2ENSG00000087116ENST00000251582p.G273Dc.818G>ASubstitution - Missense
ANKRD50ENSG00000151458ENST00000504087p.H577Hc.1731T>CSubstitution - coding silent
PITX2ENSG00000164093ENST00000306732p.A187Ac.561C>TSubstitution - coding silent
PLA2G4CENSG00000105499ENST00000413144p.G50Dc.149G>ASubstitution - Missense
GIGYF1ENSG00000146830ENST00000275732p.R248Cc.742C>TSubstitution - Missense
NAPEPLDENSG00000161048ENST00000455523p.A421Ac.1263C>TSubstitution - coding silent
C9orf141ENSG00000198454ENST00000371629p.I203Vc.607A>GSubstitution - Missense
UROC1ENSG00000159650ENST00000290868p.A566Ac.1698C>TSubstitution - coding silent
ATXN10ENSG00000130638ENST00000252934p.?c.728+5delcUnknown
ENST00000396788p.A357Pc.1069G>CSubstitution - Missense
DOCK10ENSG00000135905ENST00000258390p.F1150Sc.3449T>CSubstitution - Missense
BRCC3ENSG00000185515ENST00000369462p.?c.316+10T>CUnknown
FTHL17ENSG00000132446ENST00000359202p.R44Qc.131G>ASubstitution - Missense
PANX2ENSG00000073150ENST00000159647p.N163Ic.488A>TSubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.A2306Tc.6916G>ASubstitution - Missense
ENST00000274361_v65p.T423Ic.1268C>TSubstitution - Missense
VCX3BENSG00000205642ENST00000381029p.K21Rc.62A>GSubstitution - Missense
EXOC3L2ENSG00000130201ENST00000252482p.P366Pc.1098C>TSubstitution - coding silent
SPNENSG00000197471ENST00000360121p.G9fs*29c.24_25insTInsertion - Frameshift
SRCAPENSG00000080603ENST00000262518p.P575Pc.1725C>TSubstitution - coding silent
ZNF493ENSG00000196268ENST00000392288p.A637Tc.1909G>ASubstitution - Missense
WHSC1ENSG00000109685ENST00000382891p.A896Tc.2686G>ASubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.A804Tc.2410G>ASubstitution - Missense
SEPSECSENSG00000109618ENST00000302922p.?c.152-4G>AUnknown
ACO2ENSG00000100412ENST00000216254p.P706Sc.2116C>TSubstitution - Missense
ANKRD12ENSG00000101745ENST00000262126p.G218Dc.653G>ASubstitution - Missense
BACH2ENSG00000112182ENST00000257749p.F257Fc.771C>TSubstitution - coding silent
ENST00000332454p.L95Fc.285G>TSubstitution - Missense
CATSPERGENSG00000099338ENST00000409235p.E967Ec.2901A>GSubstitution - coding silent
SCN1BENSG00000105711ENST00000415950p.V139Ic.415G>ASubstitution - Missense
KIF27ENSG00000165115ENST00000297814p.?c.298+7T>CUnknown
AK8ENSG00000165695ENST00000298545p.Q428*c.1282C>TSubstitution - Nonsense
FAM69BENSG00000165716ENST00000371692p.A132Gc.395C>GSubstitution - Missense
ENST00000299377p.L99fs*>37c.289_290insTInsertion - Frameshift
GABRG2ENSG00000113327ENST00000356592p.R445Rc.1335C>TSubstitution - coding silent
ENST00000316490_v65p.S4130Gc.12388A>GSubstitution - Missense
ENST00000502505_v68p.S65Sc.195C>TSubstitution - coding silent
LPHN3ENSG00000150471ENST00000512091p.?c.3662+5deltUnknown
CABIN1ENSG00000099991ENST00000398319p.R1102Hc.3305G>ASubstitution - Missense
FAM78AENSG00000126882ENST00000372271p.A229Tc.685G>ASubstitution - Missense
MPDZENSG00000107186ENST00000541718p.D123Nc.367G>ASubstitution - Missense
MRPS30ENSG00000112996ENST00000507110p.D103Dc.309C>TSubstitution - coding silent
WWC1ENSG00000113645ENST00000265293p.R305Cc.913C>TSubstitution - Missense
DAXXENSG00000204209ENST00000266000p.S165Sc.495C>ASubstitution - coding silent
ANKRD33ENSG00000167612ENST00000340970p.T32Tc.96G>ASubstitution - coding silent
UBQLN3ENSG00000175520ENST00000311659p.G436Rc.1306G>ASubstitution - Missense
WSCD2ENSG00000075035ENST00000261400p.R127*c.379C>TSubstitution - Nonsense
ACSM4ENSG00000215009ENST00000399422p.R6Hc.17G>ASubstitution - Missense
COL22A1ENSG00000169436ENST00000303045p.?c.3870+9G>AUnknown
ERCC5ENSG00000134899ENST00000355739p.A513Tc.1537G>ASubstitution - Missense
ATP1A3ENSG00000105409ENST00000302102p.R217Hc.650G>ASubstitution - Missense
QKIENSG00000112531ENST00000361752p.K134fs*14c.394delADeletion - Frameshift
GIMAP8ENSG00000171115ENST00000307271p.R589Cc.1765C>TSubstitution - Missense
UNC13BENSG00000198722ENST00000378495p.R1407Cc.4219C>TSubstitution - Missense
OLFM3ENSG00000118733ENST00000338858p.D352Dc.1056T>CSubstitution - coding silent
POLR3BENSG00000013503ENST00000228347p.R141Hc.422G>ASubstitution - Missense
GCNT2ENSG00000111846ENST00000316170p.H254fs*47c.754delCDeletion - Frameshift
MUC5BENSG00000117983ENST00000529681p.M2312Tc.6935T>CSubstitution - Missense
DGKZENSG00000149091ENST00000421244p.D182Dc.546C>TSubstitution - coding silent
CCDC15ENSG00000149548ENST00000344762p.K767Ec.2299A>GSubstitution - Missense
GHITMENSG00000165678ENST00000372134p.R10Wc.28C>TSubstitution - Missense
TENC1ENSG00000111077ENST00000314250p.M1039Ic.3117G>ASubstitution - Missense
ENST00000412131p.P542Sc.1624C>TSubstitution - Missense
ENST00000300576_v68p.A289Ac.867A>GSubstitution - coding silent
MYO9AENSG00000066933ENST00000356056p.?c.998+5G>AUnknown
ANO2ENSG00000047617ENST00000546188p.T860Tc.2580G>ASubstitution - coding silent
TMC3ENSG00000188869ENST00000359440p.L226Lc.678G>TSubstitution - coding silent
SH3GL3ENSG00000140600ENST00000427482p.I336Vc.1006A>GSubstitution - Missense
FANCIENSG00000140525ENST00000300027p.E1087Kc.3259G>ASubstitution - Missense
NR4A1ENSG00000123358ENST00000360284p.L500Mc.1498C>ASubstitution - Missense
PUM1ENSG00000134644ENST00000257075p.Q1035Qc.3105G>ASubstitution - coding silent
CLSPNENSG00000092853ENST00000318121p.R1139Lc.3416G>TSubstitution - Missense
USP6NLENSG00000148429ENST00000277575p.P572Sc.1714C>TSubstitution - Missense
SFXN2ENSG00000156398ENST00000369893p.R14fs*11c.35delCDeletion - Frameshift
AKT3ENSG00000117020ENST00000366539p.R465Qc.1394G>ASubstitution - Missense
ADRA2AENSG00000150594ENST00000280155p.R435Rc.1305C>TSubstitution - coding silent
WNK1ENSG00000060237ENST00000537687p.S1587Nc.4760G>ASubstitution - Missense
VEZTENSG00000028203ENST00000436874p.Q434*c.1300C>TSubstitution - Nonsense
BIVMENSG00000134897ENST00000448849p.?c.532-3C>TUnknown
FAM208BENSG00000108021ENST00000328090p.Q360*c.1078C>TSubstitution - Nonsense
SZT2ENSG00000198198ENST00000562955p.P874fs*57c.2616delCDeletion - Frameshift
SCMH1ENSG00000010803ENST00000402904p.K375Ec.1123A>GSubstitution - Missense
CTSKENSG00000143387ENST00000443913p.N112fs*2c.335delADeletion - Frameshift
HORMAD1ENSG00000143452ENST00000361824p.T110Ic.329C>TSubstitution - Missense
CCDC88BENSG00000168071ENST00000356786p.A1445Tc.4333G>ASubstitution - Missense
PCNXL3ENSG00000197136ENST00000355703p.K483fs*11c.1446_1447insCInsertion - Frameshift
KLHDC9ENSG00000162755ENST00000368011p.A192Vc.575C>TSubstitution - Missense
NM_005158p.V309Ac.926T>CSubstitution - Missense
KCNC4ENSG00000116396ENST00000369787p.E141Kc.421G>ASubstitution - Missense
KCNC4ENSG00000116396ENST00000369787p.R516fs*17c.1541delCDeletion - Frameshift
NR5A2ENSG00000116833ENST00000367362p.E515Ec.1545A>GSubstitution - coding silent
C11orf21ENSG00000110665ENST00000456145p.E36*c.106G>TSubstitution - Nonsense
RAD54LENSG00000085999ENST00000442598p.V541Ic.1621G>ASubstitution - Missense
LMOD1ENSG00000163431ENST00000367288p.I404Vc.1210A>GSubstitution - Missense
ZNF559ENSG00000188321ENST00000393883p.S366Lc.1097C>TSubstitution - Missense
IL12RB2ENSG00000081985ENST00000262345p.N581fs*5c.1739delADeletion - Frameshift
MYO16ENSG00000041515ENST00000357550p.?c.297+9C>TUnknown
C14orf159ENSG00000133943ENST00000523816p.A505Tc.1513G>ASubstitution - Missense
ENST00000346108p.R452Cc.1354C>TSubstitution - Missense
RAB33AENSG00000134594ENST00000257017p.R99Rc.297C>ASubstitution - coding silent
ADAM23ENSG00000114948ENST00000374416p.*833Qc.2497T>CNonstop extension
TNPO3ENSG00000064419ENST00000393245p.T509Mc.1526C>TSubstitution - Missense
AQP7ENSG00000165269ENST00000297988p.G81Ec.242G>ASubstitution - Missense
NCOA6ENSG00000198646ENST00000374796p.A1446Vc.4337C>TSubstitution - Missense
TSHZ2ENSG00000182463ENST00000371497p.D334Nc.1000G>ASubstitution - Missense
SERPINF1ENSG00000132386ENST00000254722p.A369Ac.1107G>ASubstitution - coding silent
CNTROBENSG00000170037ENST00000380262p.V923fs*>4c.2765_2766insGInsertion - Frameshift
RNASEH2AENSG00000104889ENST00000221486p.D251Nc.751G>ASubstitution - Missense
DPH1ENSG00000108963ENST00000263083p.L42Lc.126G>ASubstitution - coding silent
CACNG5ENSG00000075429ENST00000533854p.V146fs*44c.426_427insCTInsertion - Frameshift
PDP1ENSG00000164951ENST00000297598p.K206Kc.618A>GSubstitution - coding silent
NPM2ENSG00000158806ENST00000397940p.E143Dc.429G>TSubstitution - Missense
CNGB3ENSG00000170289ENST00000320005p.R26Qc.77G>ASubstitution - Missense
PRICKLE4ENSG00000124593ENST00000394263p.P46Hc.137C>ASubstitution - Missense
UBR2ENSG00000024048ENST00000372899p.L1674Pc.5021T>CSubstitution - Missense
NFAM1ENSG00000235568ENST00000329021p.C99Cc.297C>TSubstitution - coding silent
ACAD9ENSG00000177646ENST00000308982p.M524Tc.1571T>CSubstitution - Missense
KALRNENSG00000160145ENST00000360013p.A467Vc.1400C>TSubstitution - Missense
IQCA1ENSG00000132321ENST00000409907p.R219Qc.656G>ASubstitution - Missense
PTH1RENSG00000160801ENST00000313049p.G490Rc.1468G>ASubstitution - Missense
KLHL18ENSG00000114648ENST00000232766p.V564fs*>11c.1687delGDeletion - Frameshift
RAD17ENSG00000152942ENST00000509734p.D429Dc.1287T>CSubstitution - coding silent
ATRXENSG00000085224ENST00000373344p.E886fs*10c.2658_2659delGADeletion - Frameshift
CCDC171ENSG00000164989ENST00000380701p.F273Yc.818T>ASubstitution - Missense
SLC16A2ENSG00000147100ENST00000276033p.Y272Hc.814T>CSubstitution - Missense
FSTL1ENSG00000163430ENST00000295633p.?c.883-7C>TUnknown
NDUFB4ENSG00000065518ENST00000184266p.?c.180+7G>AUnknown
ILDR1ENSG00000145103ENST00000273691p.G141*c.421G>TSubstitution - Nonsense
THSD7BENSG00000144229ENST00000413152p.G1238Gc.3714A>GSubstitution - coding silent
TBC1D9ENSG00000109436ENST00000442267p.H310Hc.930C>TSubstitution - coding silent
CACNA1GENSG00000006283ENST00000359106p.?c.4512+9G>AUnknown
PLEKHH2ENSG00000152527ENST00000282406p.G273Cc.817G>TSubstitution - Missense
ENST00000361316p.A548Tc.1642G>ASubstitution - Missense
CYLC2ENSG00000155833ENST00000374798p.A313Vc.938C>TSubstitution - Missense
SLC44A1ENSG00000070214ENST00000374720p.Q466Pc.1397A>CSubstitution - Missense
ATAD2ENSG00000156802ENST00000287394p.?c.1382+5T>CUnknown
ENTHD1ENSG00000176177ENST00000325157p.S361Sc.1083T>ASubstitution - coding silent
LAMA2ENSG00000196569ENST00000421865p.G436Gc.1308T>CSubstitution - coding silent
DOPEY1ENSG00000083097ENST00000349129p.A83Ac.249G>ASubstitution - coding silent
CCL1ENSG00000108702ENST00000225842p.R89Rc.267G>ASubstitution - coding silent
WDR49ENSG00000174776ENST00000308378p.M351Vc.1051A>GSubstitution - Missense
GGNENSG00000179168ENST00000334928p.P256Pc.768G>ASubstitution - coding silent
SPATA31D1ENSG00000214929ENST00000344803p.G103Rc.307G>ASubstitution - Missense
SDK1ENSG00000146555ENST00000404826p.Q1292*c.3874C>TSubstitution - Nonsense
PIK3CGENSG00000105851ENST00000440650p.A253Tc.757G>ASubstitution - Missense
GRB10ENSG00000106070ENST00000403097p.L397Fc.1189C>TSubstitution - Missense
EIF3EENSG00000104408ENST00000220849p.T48Ic.143C>TSubstitution - Missense
ENST00000319379p.P2747Lc.8240C>TSubstitution - Missense
AZGP1ENSG00000160862ENST00000292401p.R191Qc.572G>ASubstitution - Missense
C5ENSG00000106804ENST00000223642p.E309*c.925G>TSubstitution - Nonsense
PAQR8ENSG00000170915ENST00000442253p.P272Pc.816G>ASubstitution - coding silent
DCLK1ENSG00000133083ENST00000379892p.S307Sc.921C>TSubstitution - coding silent
MYOFENSG00000138119ENST00000371502p.K1223Nc.3669A>TSubstitution - Missense
SLC16A12ENSG00000152779ENST00000371790p.P374Sc.1120C>TSubstitution - Missense
CERS6ENSG00000172292ENST00000305747p.?c.170+2T>CUnknown
COL22A1ENSG00000169436ENST00000303045p.P1505fs*31c.4514delCDeletion - Frameshift
RGS3ENSG00000138835ENST00000343817p.K884Kc.2652G>ASubstitution - coding silent
OR1N2ENSG00000171501ENST00000373688p.I63Fc.187A>TSubstitution - Missense
MAP3K13ENSG00000073803ENST00000535426p.S505Sc.1515C>ASubstitution - coding silent
WHSC1ENSG00000109685ENST00000382888p.A244Tc.730G>ASubstitution - Missense
KDM6AENSG00000147050ENST00000382899p.N641fs*5c.1917_1918insAInsertion - Frameshift
ZNF747ENSG00000169955ENST00000535210p.A57Ac.171G>ASubstitution - coding silent
UNKLENSG00000059145ENST00000248104p.V141Ic.421G>ASubstitution - Missense
PPP4R4ENSG00000119698ENST00000328839p.?c.117+5G>AUnknown
FBXW7ENSG00000109670ENST00000281708p.S668fs*39c.2001delGDeletion - Frameshift
SORCS2ENSG00000184985ENST00000507866p.P247Sc.739C>TSubstitution - Missense
DMXL1ENSG00000172869ENST00000539542p.F237Sc.710T>CSubstitution - Missense
LPIN1ENSG00000134324ENST00000449576p.L912Mc.2734C>ASubstitution - Missense
DEPDC5ENSG00000100150ENST00000400246p.?c.279+5G>AUnknown
DNAH6ENSG00000115423ENST00000398278p.Q1933*c.5797C>TSubstitution - Nonsense
AKAP9ENSG00000127914ENST00000356239p.Q3746fs*7c.11229delGDeletion - Frameshift
XYLT2ENSG00000015532ENST00000017003p.G529fs*78c.1578delCDeletion - Frameshift
ZNF274ENSG00000171606ENST00000345813p.R584Cc.1750C>TSubstitution - Missense
GPNMBENSG00000136235ENST00000381990p.D397Dc.1191C>TSubstitution - coding silent
PDHA1ENSG00000131828ENST00000379806p.R342Qc.1025G>ASubstitution - Missense
GFRA2ENSG00000168546ENST00000524240p.R178Hc.533G>ASubstitution - Missense
SULF1ENSG00000137573ENST00000260128p.T489Mc.1466C>TSubstitution - Missense
TEX9ENSG00000151575ENST00000352903p.R298Rc.894C>TSubstitution - coding silent
RFX7ENSG00000181827ENST00000423270p.S931Sc.2793C>TSubstitution - coding silent
HTR3BENSG00000149305ENST00000260191p.L315Pc.944T>CSubstitution - Missense
PEX5ENSG00000139197ENST00000266564p.L67Lc.201G>ASubstitution - coding silent
UBR4ENSG00000127481ENST00000375254p.W2252Lc.6755G>TSubstitution - Missense
EMC1ENSG00000127463ENST00000477853p.E468Ec.1404G>ASubstitution - coding silent
PTGER3ENSG00000050628ENST00000370924p.L337Lc.1009C>TSubstitution - coding silent
EVI5ENSG00000067208ENST00000370331p.?c.1229+2T>CUnknown
DNTTIP2ENSG00000067334ENST00000436063p.E254Gc.761A>GSubstitution - Missense
ENST00000318301p.R690Cc.2068C>TSubstitution - Missense
LCE2DENSG00000187223ENST00000368784p.S2Fc.5C>TSubstitution - Missense
PPP1R1CENSG00000150722ENST00000452904p.P47fs*3c.135delCDeletion - Frameshift
RPEENSG00000197713ENST00000359429p.A221Tc.661G>ASubstitution - Missense
TGS1ENSG00000137574ENST00000260129p.K558Kc.1674A>GSubstitution - coding silent
ENST00000356127p.T1042Ic.3125C>TSubstitution - Missense
NPHP4ENSG00000131697ENST00000378156p.I1116Ic.3348C>TSubstitution - coding silent
SLC9A1ENSG00000090020ENST00000263980p.A43Tc.127G>ASubstitution - Missense
ZNF831ENSG00000124203ENST00000371030p.K1282Kc.3846G>ASubstitution - coding silent
CDH26ENSG00000124215ENST00000348616p.D389Dc.1167C>TSubstitution - coding silent
AP2A1ENSG00000196961ENST00000359032p.N925Nc.2775C>TSubstitution - coding silent
NOSIPENSG00000142546ENST00000391853p.R67Cc.199C>TSubstitution - Missense
ZNF555ENSG00000186300ENST00000334241p.R211Hc.632G>ASubstitution - Missense
AP2A1ENSG00000196961ENST00000359032p.?c.68-7C>TUnknown
SREBF1ENSG00000072310ENST00000355815p.S472Sc.1416C>TSubstitution - coding silent
IGSF1ENSG00000147255ENST00000361420p.G1089Ec.3266G>ASubstitution - Missense
C3ENSG00000125730ENST00000245907p.I1191Vc.3571A>GSubstitution - Missense
NM_031968.1p.G394Dc.1181G>ASubstitution - Missense
CNTROBENSG00000170037ENST00000380262p.L654Lc.1962G>TSubstitution - coding silent
ASXL3ENSG00000141431ENST00000269197p.S393Lc.1178C>TSubstitution - Missense
SUPT6HENSG00000109111ENST00000314616p.?c.1878+5G>AUnknown
CACNA1DENSG00000157388ENST00000350061p.P1417Tc.4249C>ASubstitution - Missense
NIPAL1ENSG00000163293ENST00000295461p.A133Vc.398C>TSubstitution - Missense
KRTAP9-9ENSG00000198083ENST00000394008p.P157Sc.469C>TSubstitution - Missense
ANKS3ENSG00000168096ENST00000304283p.G30Rc.88G>ASubstitution - Missense
SHQ1ENSG00000144736ENST00000325599p.V388Mc.1162G>ASubstitution - Missense
PPP4R2ENSG00000163605ENST00000356692p.A278Ac.834A>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.A20317Vc.60950C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.P10342Pc.31026A>GSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.R16583_A16584insRc.49745_49746insAAGInsertion - In frame
DNMT3BENSG00000088305ENST00000201963p.M314Ic.942G>ASubstitution - Missense
PDRG1ENSG00000088356ENST00000202017p.H83Yc.247C>TSubstitution - Missense
KIR2DL4ENSG00000189013ENST00000396284p.P40Lc.119C>TSubstitution - Missense
GP6ENSG00000088053ENST00000310373p.V170Mc.508G>ASubstitution - Missense
PPP1R9AENSG00000158528ENST00000433360p.A837Sc.2509G>TSubstitution - Missense
ENSG00000257743ENST00000477922p.R1589Qc.4766G>ASubstitution - Missense
LYNX1ENSG00000180155ENST00000317543p.L61Fc.183G>TSubstitution - Missense
ZDHHC19ENSG00000163958ENST00000296326p.R155Hc.464G>ASubstitution - Missense
ZNRF3ENSG00000183579ENST00000406323p.?c.613-5C>TUnknown
FBXO7ENSG00000100225ENST00000266087p.S42Sc.126T>CSubstitution - coding silent
KIF1AENSG00000130294ENST00000320389p.A269Ac.807C>TSubstitution - coding silent
NHSL1ENSG00000135540ENST00000343505p.R682Cc.2044C>TSubstitution - Missense
EGR4ENSG00000135625ENST00000545030p.D284Nc.850G>ASubstitution - Missense
ENST00000290390_v68p.R551Rc.1651C>ASubstitution - coding silent
CHDC2ENSG00000176034ENST00000378660p.N311Kc.933T>ASubstitution - Missense
KDM6AENSG00000147050ENST00000377967p.W321Lc.962G>TSubstitution - Missense
DSPPENSG00000152591ENST00000399271p.I106Nc.317T>ASubstitution - Missense
BRCC3ENSG00000185515ENST00000369462p.S155fs*4c.458delTDeletion - Frameshift
SMSENSG00000102172ENST00000415881p.?c.373-10T>GUnknown
PSD4ENSG00000125637ENST00000245796p.Q408Lc.1223A>TSubstitution - Missense
GFPT2ENSG00000131459ENST00000253778p.R29Rc.85C>ASubstitution - coding silent
PCDH18ENSG00000189184ENST00000344876p.S513Ac.1537T>GSubstitution - Missense
C16orf93ENSG00000196118ENST00000543610p.?c.818-4G>AUnknown
ZNF493ENSG00000196268ENST00000355504p.A509Tc.1525G>ASubstitution - Missense
ITGALENSG00000005844ENST00000356798p.S1062Nc.3185G>ASubstitution - Missense
OR6B1ENSG00000221813ENST00000408922p.L96Pc.287T>CSubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.Q3101*c.9301C>TSubstitution - Nonsense
HCN1ENSG00000164588ENST00000303230p.?c.1011+3A>GUnknown
IL6STENSG00000134352ENST00000381298p.T689Ic.2066C>TSubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.T1573Tc.4719G>ASubstitution - coding silent
NOTCH3ENSG00000074181ENST00000263388p.V1734Ic.5200G>ASubstitution - Missense
USP15ENSG00000135655ENST00000280377p.G290Dc.869G>ASubstitution - Missense
IL31RAENSG00000164509ENST00000359040p.R518*c.1552C>TSubstitution - Nonsense
PMFBP1ENSG00000118557ENST00000537465p.S549Fc.1646C>TSubstitution - Missense
ENST00000312777_v70p.K174fs*26c.515delADeletion - Frameshift
DLL3ENSG00000090932ENST00000356433p.T249Mc.746C>TSubstitution - Missense
FUT6ENSG00000156413ENST00000592563p.P182Pc.546G>ASubstitution - coding silent
TRIM11ENSG00000154370ENST00000366699p.A223Tc.667G>ASubstitution - Missense
VWA5B1ENSG00000158816ENST00000375083p.A636Vc.1907C>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.R2986Rc.8958A>GSubstitution - coding silent
ENST00000406302p.?c.2811+7G>AUnknown
CAMSAP1ENSG00000130559ENST00000409386p.R725Rc.2175G>ASubstitution - coding silent
EHMT2ENSG00000204371ENST00000395728p.R1199*c.3595C>TSubstitution - Nonsense
ARL4CENSG00000188042ENST00000339728p.G165Dc.494G>ASubstitution - Missense
KANSL3ENSG00000114982ENST00000440133p.R422*c.1264C>TSubstitution - Nonsense
CLTCL1ENSG00000070371ENST00000427926p.T1031Ic.3092C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.R966*c.2896C>TSubstitution - Nonsense
WSCD2ENSG00000075035ENST00000332082p.R127*c.379C>TSubstitution - Nonsense
DENND2AENSG00000146966ENST00000492720p.I480Mc.1440A>GSubstitution - Missense
MYCBP2ENSG00000005810ENST00000407578p.T4126Tc.12378C>TSubstitution - coding silent
UNGENSG00000076248ENST00000336865p.G295Dc.884G>ASubstitution - Missense
ATP8B1ENSG00000081923ENST00000283684p.N205fs*33c.614delADeletion - Frameshift
CHD5ENSG00000116254ENST00000262450p.G977fs*63c.2927_2928insGInsertion - Frameshift
C7orf50ENSG00000146540ENST00000357429p.L179fs*>16c.535delCDeletion - Frameshift
KCNH2ENSG00000055118ENST00000262186p.T152fs*14c.453delCDeletion - Frameshift
CLCN3ENSG00000109572ENST00000347613p.R311fs*14c.925delADeletion - Frameshift
BCORL1ENSG00000085185ENST00000218147p.P1681fs*20c.5036delCDeletion - Frameshift
TEAD1ENSG00000187079ENST00000361905p.A269Ac.807C>ASubstitution - coding silent
ST3GAL4ENSG00000110080ENST00000227495p.I64Tc.191T>CSubstitution - Missense
OR52I1ENSG00000232268ENST00000450052p.F183Vc.547T>GSubstitution - Missense
NM_000770.2p.P260Hc.779C>ASubstitution - Missense
CAMK2GENSG00000148660ENST00000351293p.K478Kc.1434G>ASubstitution - coding silent
ENST00000327087_v68p.T859Tc.2577G>ASubstitution - coding silent
ENST00000300053p.R328Rc.984G>ASubstitution - coding silent
PPME1ENSG00000214517ENST00000328257p.S72Cc.214A>TSubstitution - Missense
SEMA4AENSG00000196189ENST00000368285p.A31Tc.91G>ASubstitution - Missense
COX15ENSG00000014919ENST00000016171p.R178Cc.532C>TSubstitution - Missense
NM_002779.2p.Y205Cc.614A>GSubstitution - Missense
CTTNENSG00000085733ENST00000301843p.?c.901+9G>AUnknown
VEZTENSG00000028203ENST00000261219p.Q386*c.1156C>TSubstitution - Nonsense
APAF1ENSG00000120868ENST00000551964p.D1147Dc.3441C>TSubstitution - coding silent
COL9A2ENSG00000049089ENST00000372748p.P153Pc.459C>TSubstitution - coding silent
MACF1ENSG00000127603ENST00000360115p.Q4304Hc.12912A>TSubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.Q3802Hc.11406A>TSubstitution - Missense
TP53BP1ENSG00000067369ENST00000263801p.A1806Ac.5418G>ASubstitution - coding silent
OPCMLENSG00000183715ENST00000524381p.T292Tc.876G>ASubstitution - coding silent
ITLN2ENSG00000158764ENST00000368029p.A140Vc.419C>TSubstitution - Missense
TPH1ENSG00000129167ENST00000250018p.V64Ic.190G>ASubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.A1030Tc.3088G>ASubstitution - Missense
SPAG6ENSG00000077327ENST00000376603p.L37Mc.109C>ASubstitution - Missense
ENST00000417177p.I1947Ic.5841T>CSubstitution - coding silent
RNF220ENSG00000187147ENST00000355387p.P90fs*15c.264delCDeletion - Frameshift
HPDLENSG00000186603ENST00000334815p.A2Vc.5C>TSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.P32fs*57c.90delCDeletion - Frameshift
MACF1ENSG00000127603ENST00000361689p.S5293Fc.15878C>TSubstitution - Missense
GCN1L1ENSG00000089154ENST00000300648p.K2222Kc.6666G>ASubstitution - coding silent
PABPC4ENSG00000090621ENST00000372857p.R475Hc.1424G>ASubstitution - Missense
TMEM120BENSG00000188735ENST00000449592p.V165Ac.494T>CSubstitution - Missense
PPFIBP1ENSG00000110841ENST00000318304p.R883*c.2647C>TSubstitution - Nonsense
POLR1AENSG00000068654ENST00000263857p.Y1315Hc.3943T>CSubstitution - Missense
CASP8ENSG00000064012ENST00000358485p.C371Yc.1112G>ASubstitution - Missense
ALS2ENSG00000003393ENST00000264276p.R547Kc.1640G>ASubstitution - Missense
PLCL1ENSG00000115896ENST00000428675p.R580*c.1738C>TSubstitution - Nonsense
NM_003319p.P10150Pc.30450A>GSubstitution - coding silent
NFE2L2ENSG00000116044ENST00000397062p.P477Pc.1431T>CSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.T10760Ac.32278A>GSubstitution - Missense
NM_003319p.T10635Ac.31903A>GSubstitution - Missense
ENST00000356127p.R22953_A22954insRc.68855_68856insAAGInsertion - In frame
DGCR8ENSG00000128191ENST00000351989p.S693fs*9c.2071_2072insGInsertion - Frameshift
GLP2RENSG00000065325ENST00000262441p.V234Vc.702C>TSubstitution - coding silent
DLX6ENSG00000006377ENST00000518156p.Q228Rc.683A>GSubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.T2391Mc.7172C>TSubstitution - Missense
CYP3A5ENSG00000106258ENST00000222982p.L249fs*1c.746delTDeletion - Frameshift
MTUS1ENSG00000129422ENST00000297488p.M330Ic.990G>ASubstitution - Missense
TNK2ENSG00000061938ENST00000333602p.R127Hc.380G>ASubstitution - Missense
ADH1BENSG00000196616ENST00000305046p.S23fs*22c.67delTDeletion - Frameshift
TTC28ENSG00000100154ENST00000397906p.L2418Mc.7252C>ASubstitution - Missense
PYDC1ENSG00000169900ENST00000302964p.Y64Yc.192C>TSubstitution - coding silent
CASP8ENSG00000064012ENST00000264275p.M178Ic.534G>ASubstitution - Missense
AP3S1ENSG00000177879ENST00000316788p.L189Lc.567G>ASubstitution - coding silent
TGOLN2ENSG00000152291ENST00000377386p.S382Sc.1146C>TSubstitution - coding silent
SLCO4C1ENSG00000173930ENST00000310954p.K569Nc.1707A>TSubstitution - Missense
NPHP1ENSG00000144061ENST00000316534p.?c.729-3C>AUnknown
GAGE2DENSG00000240257ENST00000404720p.M26Vc.76A>GSubstitution - Missense
CATSPERDENSG00000174898ENST00000381624p.A759Ac.2277G>ASubstitution - coding silent
NMUR1ENSG00000171596ENST00000305141p.L99Ic.295C>ASubstitution - Missense
FAM126AENSG00000122591ENST00000432176p.P437Sc.1309C>TSubstitution - Missense
PLCH1ENSG00000114805ENST00000340059p.R920Hc.2759G>ASubstitution - Missense
CDH10ENSG00000040731ENST00000264463p.K90Kc.270A>GSubstitution - coding silent
ENST00000341648p.P409Sc.1225C>TSubstitution - Missense
RSPH10B2ENSG00000169402ENST00000404077p.G134Sc.400G>ASubstitution - Missense
LRCH4ENSG00000077454ENST00000310300p.L324Rc.971T>GSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.S3176Pc.9526T>CSubstitution - Missense
TCF20ENSG00000100207ENST00000359486p.P1911Lc.5732C>TSubstitution - Missense
WDR33ENSG00000136709ENST00000322313p.T537fs*76c.1609delADeletion - Frameshift
ADCY2ENSG00000078295ENST00000338316p.I231Nc.692T>ASubstitution - Missense
ENST00000436261_v68p.H237Hc.711T>CSubstitution - coding silent
BRWD3ENSG00000165288ENST00000373275p.T879Tc.2637A>GSubstitution - coding silent
MKNK2ENSG00000099875ENST00000250896p.V82Ic.244G>ASubstitution - Missense
CDK20ENSG00000156345ENST00000336654p.L223Lc.669C>ASubstitution - coding silent
PCTPENSG00000141179ENST00000268896p.Y52Hc.154T>CSubstitution - Missense
SRBD1ENSG00000068784ENST00000263736p.Q560Rc.1679A>GSubstitution - Missense
ENST00000324309p.?c.207+4C>TUnknown
SRFBP1ENSG00000151304ENST00000339397p.N236fs*76c.699_700insAAInsertion - Frameshift
ATAD2ENSG00000156802ENST00000287394p.R990Kc.2969G>ASubstitution - Missense
ADTRPENSG00000111863ENST00000379413p.?c.153+5G>AUnknown
ZBED6CLENSG00000188707ENST00000343855p.P224Tc.670C>ASubstitution - Missense
PCDHA4ENSG00000204967ENST00000378125p.E501Gc.1502A>GSubstitution - Missense
NM_016377.2p.P131Pc.393A>TSubstitution - coding silent
BACH2ENSG00000112182ENST00000257749p.A324Gc.971C>GSubstitution - Missense
ENST00000369584p.T320Ac.958A>GSubstitution - Missense
FZR1ENSG00000105325ENST00000441788p.R165fs*60c.487_488insCInsertion - Frameshift
CATSPERGENSG00000099338ENST00000312265p.E607Ec.1821A>GSubstitution - coding silent
PRR11ENSG00000068489ENST00000262293p.A181Tc.541G>ASubstitution - Missense
NOTCH1ENSG00000148400ENST00000277541p.P668Sc.2002C>TSubstitution - Missense
ZNF529ENSG00000186020ENST00000334116p.E21Dc.63A>CSubstitution - Missense
PDGFRAENSG00000134853ENST00000257290p.G426Dc.1277G>ASubstitution - Missense
NM_020416.2p.S180Sc.540C>TSubstitution - coding silent
PPP2R2CENSG00000074211ENST00000335585p.S180Sc.540C>TSubstitution - coding silent
KIAA1671ENSG00000197077ENST00000358431p.L330Lc.990G>ASubstitution - coding silent
BLVRAENSG00000106605ENST00000265523p.P99Rc.296C>GSubstitution - Missense
MTMR1ENSG00000063601ENST00000370390p.T641Mc.1922C>TSubstitution - Missense
HLA-BENSG00000234745ENST00000412585p.Q139Hc.417G>TSubstitution - Missense
SRGAP3ENSG00000196220ENST00000360413p.?c.423+2T>CUnknown
TENM2ENSG00000145934ENST00000545108p.G2057fs*50c.6166delGDeletion - Frameshift
MPP4ENSG00000082126ENST00000359962p.?c.733-10C>AUnknown
HHATENSG00000054392ENST00000545154p.V483Mc.1447G>ASubstitution - Missense
DBNLENSG00000136279ENST00000468694p.P317Tc.949C>ASubstitution - Missense
TNS3ENSG00000136205ENST00000442536p.?c.587-1G>AUnknown
MAPK15ENSG00000181085ENST00000395107p.P253Pc.759G>ASubstitution - coding silent
DOCK4ENSG00000128512ENST00000494651p.D91Nc.271G>ASubstitution - Missense
OFCC1ENSG00000181355ENST00000316020p.R187Qc.560G>ASubstitution - Missense
ZNRF3ENSG00000183579ENST00000544604p.?c.913-5C>TUnknown
IL17RBENSG00000056736ENST00000288167p.K172fs*23c.508delADeletion - Frameshift
PRR14ENSG00000156858ENST00000300835p.P279fs*2c.830delCDeletion - Frameshift
FBXL7ENSG00000183580ENST00000504595p.A294Vc.881C>TSubstitution - Missense
ZBTB20ENSG00000181722ENST00000474710p.P692fs*43c.2075delCDeletion - Frameshift
PRKAB1ENSG00000111725ENST00000229328p.G88Rc.262G>ASubstitution - Missense
ZNF713ENSG00000178665ENST00000429591p.V47Mc.139G>ASubstitution - Missense
ACCSENSG00000110455ENST00000263776p.E426Dc.1278G>TSubstitution - Missense
HDGFENSG00000143321ENST00000357325p.D134Dc.402C>TSubstitution - coding silent
LPGAT1ENSG00000123684ENST00000366996p.?c.727+6A>GUnknown
FADS2ENSG00000134824ENST00000278840p.L31Lc.93G>ASubstitution - coding silent
TMEM55BENSG00000165782ENST00000250489p.?c.600-4A>GUnknown
PTPREENSG00000132334ENST00000306042p.G358Cc.1072G>TSubstitution - Missense
NM_172217.1p.K15fs*9c.42delADeletion - Frameshift
GOLGA3ENSG00000090615ENST00000545875p.T186Tc.558G>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000359599p.R3516Pc.10547G>CSubstitution - Missense
ZBTB37ENSG00000185278ENST00000427304p.K297Nc.891G>TSubstitution - Missense
TMCC3ENSG00000057704ENST00000261226p.M422Vc.1264A>GSubstitution - Missense
ANK3ENSG00000151150ENST00000280772p.S3460Gc.10378A>GSubstitution - Missense
CSTF2TENSG00000177613ENST00000331173p.P219_G220delPGc.654_659delCCCTGGDeletion - In frame
BCL2L15ENSG00000188761ENST00000393316p.I52Vc.154A>GSubstitution - Missense
ZNF106ENSG00000103994ENST00000263805p.G762Sc.2284G>ASubstitution - Missense
CDH23ENSG00000107736ENST00000398809p.?c.1134+9C>TUnknown
ASCC1ENSG00000138303ENST00000394919p.K82Nc.246G>TSubstitution - Missense
GOLGA6L2ENSG00000174450ENST00000312015p.I647Ic.1941C>TSubstitution - coding silent
JAM3ENSG00000166086ENST00000299106p.R159Cc.475C>TSubstitution - Missense
SYT8ENSG00000149043ENST00000535046p.C258Yc.773G>ASubstitution - Missense
SSU72ENSG00000160075ENST00000291386p.R126Kc.377G>ASubstitution - Missense
KCNK10ENSG00000100433ENST00000319231p.T7Ac.19A>GSubstitution - Missense
DUOX2ENSG00000140279ENST00000389039p.D786Nc.2356G>ASubstitution - Missense
GALK2ENSG00000156958ENST00000560031p.E381fs*41c.1137delCDeletion - Frameshift
MYO5AENSG00000197535ENST00000399231p.A993Vc.2978C>TSubstitution - Missense
TRPM7ENSG00000092439ENST00000313478p.R975Hc.2924G>ASubstitution - Missense
TBX21ENSG00000073861ENST00000177694p.A129Ac.387G>ASubstitution - coding silent
PLEKHM1ENSG00000225190ENST00000430334p.N905Nc.2715C>TSubstitution - coding silent
PLCG2ENSG00000197943ENST00000359376p.R20fs*39c.56_57delAGDeletion - Frameshift
ENST00000485269p.R27Hc.80G>ASubstitution - Missense
ARHGAP29ENSG00000137962ENST00000260526p.R415Qc.1244G>ASubstitution - Missense
CASC5ENSG00000137812ENST00000346991p.S172fs*3c.508_509insTInsertion - Frameshift
NELFCDENSG00000101158ENST00000344018p.N223fs*22c.662delADeletion - Frameshift
ENST00000359032_v68p.N925Nc.2775C>TSubstitution - coding silent
CD37ENSG00000104894ENST00000323906p.A174Vc.521C>TSubstitution - Missense
ATXN3LENSG00000123594ENST00000380622p.D145Ec.435T>ASubstitution - Missense
NT5C1BENSG00000185013ENST00000359846p.A438Tc.1312G>ASubstitution - Missense
GDF6ENSG00000156466ENST00000287020p.R91Hc.272G>ASubstitution - Missense
CACNA2D3ENSG00000157445ENST00000474759p.Y73Cc.218A>GSubstitution - Missense
DOCK8ENSG00000107099ENST00000453981p.E1568Ec.4704G>ASubstitution - coding silent
GLDCENSG00000178445ENST00000321612p.A777Tc.2329G>ASubstitution - Missense
ENST00000334070p.R86fs*>15c.248_249insAInsertion - Frameshift
AGKENSG00000006530ENST00000355413p.?c.727-9C>TUnknown
DENND2AENSG00000146966ENST00000275884p.I480Mc.1440A>GSubstitution - Missense
ARAP2ENSG00000047365ENST00000303965p.L529Fc.1585C>TSubstitution - Missense
KRT27ENSG00000171446ENST00000301656p.G432Gc.1296C>TSubstitution - coding silent
CORINENSG00000145244ENST00000273857p.G983Dc.2948G>ASubstitution - Missense
PARM1ENSG00000169116ENST00000307428p.T163Tc.489C>TSubstitution - coding silent
DOCK3ENSG00000088538ENST00000266037p.H631Yc.1891C>TSubstitution - Missense
CCR6ENSG00000112486ENST00000400926p.T363Tc.1089C>ASubstitution - coding silent
ARL13BENSG00000169379ENST00000303097p.I158Vc.472A>GSubstitution - Missense
ENST00000265403_v61p.N212fs*17c.630delADeletion - Frameshift
SETD5ENSG00000168137ENST00000402198p.T1317fs*53c.3945delGDeletion - Frameshift
KRTAP10-1ENSG00000215455ENST00000400375p.S14Sc.42C>TSubstitution - coding silent
SNRNP200ENSG00000144028ENST00000323853p.?c.5931+10G>AUnknown
CAPN10ENSG00000142330ENST00000391982p.?c.1279-1G>TUnknown
TTNENSG00000155657ENST00000342175p.I16273Mc.48819A>GSubstitution - Missense
HOXD11ENSG00000128713ENST00000249504p.R279Rc.837C>TSubstitution - coding silent
OSR1ENSG00000143867ENST00000272223p.T75Mc.224C>TSubstitution - Missense
PPP1R12CENSG00000125503ENST00000263433p.G366Dc.1097G>ASubstitution - Missense
DLX6ENSG00000006377ENST00000007660p.Q200Rc.599A>GSubstitution - Missense
PUF60ENSG00000179950ENST00000526683p.?c.1381-3C>TUnknown
BANPENSG00000172530ENST00000393207p.T317Tc.951G>ASubstitution - coding silent
C16orf72ENSG00000182831ENST00000327827p.R188Wc.562C>TSubstitution - Missense
NLRC3ENSG00000167984ENST00000301749p.R797Wc.2389C>TSubstitution - Missense
DPPA4ENSG00000121570ENST00000335658p.?c.879-1G>TUnknown
SCN5AENSG00000183873ENST00000413689p.S262Gc.784A>GSubstitution - Missense
RPSAENSG00000168028ENST00000301821p.P234Pc.702C>TSubstitution - coding silent
RBM3ENSG00000102317ENST00000354480p.C7Yc.20G>ASubstitution - Missense
AGPAT9ENSG00000138678ENST00000395226p.C225Yc.674G>ASubstitution - Missense
PSMD1ENSG00000173692ENST00000308696p.K849fs*44c.2540delADeletion - Frameshift
PAPOLGENSG00000115421ENST00000238714p.Q130fs*7c.381delTDeletion - Frameshift
ZNF142ENSG00000115568ENST00000411696p.R823Wc.2467C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.R7999*c.23995C>TSubstitution - Nonsense
FAT4ENSG00000196159ENST00000394329p.Y1215Cc.3644A>GSubstitution - Missense
HECAENSG00000112406ENST00000367658p.A219Ac.657G>TSubstitution - coding silent
ATP2A1ENSG00000196296ENST00000357084p.R751Rc.2253C>TSubstitution - coding silent
CLASRPENSG00000104859ENST00000221455p.A596Vc.1787C>TSubstitution - Missense
TUBA3EENSG00000152086ENST00000312988p.A331Tc.991G>ASubstitution - Missense
CLDN3ENSG00000165215ENST00000395145p.R216Hc.647G>ASubstitution - Missense
GRID2IPENSG00000215045ENST00000457091p.R693Wc.2077C>TSubstitution - Missense
TYW1ENSG00000198874ENST00000359626p.T690Tc.2070G>ASubstitution - coding silent
CACNG2ENSG00000166862ENST00000300105p.Y231Yc.693C>TSubstitution - coding silent
EYSENSG00000188107ENST00000370621p.L3015Ic.9043C>ASubstitution - Missense
TIMM21ENSG00000075336ENST00000169551p.A210Vc.629C>TSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.R4179Qc.12536G>ASubstitution - Missense
CYP8B1ENSG00000180432ENST00000316161p.T287Tc.861G>ASubstitution - coding silent
C6orf89ENSG00000198663ENST00000355190p.R105Cc.313C>TSubstitution - Missense
ACKR2ENSG00000144648ENST00000442925p.R77Rc.231C>TSubstitution - coding silent
PTPRKENSG00000152894ENST00000368226p.C386fs*15c.1155_1156insAInsertion - Frameshift
LAMA2ENSG00000196569ENST00000421865p.R3089Gc.9265A>GSubstitution - Missense
PCDHGA11ENSG00000253873ENST00000398587p.R186Ic.557G>TSubstitution - Missense
PPP1R26ENSG00000196422ENST00000356818p.R673Hc.2018G>ASubstitution - Missense
CPED1ENSG00000106034ENST00000310396p.F311fs*5c.928delTDeletion - Frameshift
PRKAR2BENSG00000005249ENST00000265717p.?c.984+7A>GUnknown
GABRB2ENSG00000145864ENST00000353437p.A69Tc.205G>ASubstitution - Missense
SLC4A9ENSG00000113073ENST00000230993p.S947Sc.2841C>TSubstitution - coding silent
RAD51DENSG00000185379ENST00000345365p.?c.903+9G>AUnknown
SLC9A6ENSG00000198689ENST00000370698p.R174fs*58c.512_513insTInsertion - Frameshift
ENST00000248668_v71p.?c.1406+9G>TUnknown
UBR3ENSG00000144357ENST00000418381p.C1266Cc.3798C>TSubstitution - coding silent
CRATENSG00000095321ENST00000318080p.P42Hc.125C>ASubstitution - Missense
KIAA1107ENSG00000069712ENST00000409154p.A706Tc.2116G>ASubstitution - Missense
UBAP2LENSG00000143569ENST00000271877p.N224Kc.672C>ASubstitution - Missense
NR4A1ENSG00000123358ENST00000545748p.L541Mc.1621C>ASubstitution - Missense
OR8K1ENSG00000150261ENST00000279783p.M279Kc.836T>ASubstitution - Missense
ENST00000337072p.E562Dc.1686A>TSubstitution - Missense
NUP98ENSG00000110713ENST00000359171p.E1596Gc.4787A>GSubstitution - Missense
CAMK2GENSG00000148660ENST00000322635p.R75Rc.225C>TSubstitution - coding silent
ZEB1ENSG00000148516ENST00000446923p.Q701*c.2101C>TSubstitution - Nonsense
INPP5FENSG00000198825ENST00000369080p.G334Gc.1002C>TSubstitution - coding silent
CTNNA2ENSG00000066032ENST00000361291p.G653Gc.1959C>TSubstitution - coding silent
ENST00000446427p.R309Cc.925C>TSubstitution - Missense
KCNJ2ENSG00000123700ENST00000243457p.R67Wc.199C>TSubstitution - Missense
LRCH1ENSG00000136141ENST00000311191p.L162Mc.484C>ASubstitution - Missense
DZIP1ENSG00000134874ENST00000347108p.P738Ac.2212C>GSubstitution - Missense
KLF5ENSG00000102554ENST00000377687p.S388_H389>Yc.1163_1165delCTCComplex - deletion inframe
ENST00000377560_v62p.Q806Rc.2417A>GSubstitution - Missense
KCNA6ENSG00000151079ENST00000280684p.D230Dc.690T>CSubstitution - coding silent
MARCH9ENSG00000139266ENST00000266643p.R298Hc.893G>ASubstitution - Missense
ENST00000316043p.S144Cc.430A>TSubstitution - Missense
SIGIRRENSG00000185187ENST00000397632p.G354Gc.1062C>TSubstitution - coding silent
OR8D4ENSG00000181518ENST00000321355p.Y123Yc.369C>TSubstitution - coding silent
ROBO3ENSG00000154134ENST00000397801p.F594Vc.1780T>GSubstitution - Missense
NESENSG00000132688ENST00000368223p.E1027Dc.3081G>TSubstitution - Missense
NM_018979p.P1429Lc.4286C>TSubstitution - Missense
PELI3ENSG00000174516ENST00000320740p.A445Tc.1333G>ASubstitution - Missense
ANO1ENSG00000131620ENST00000355303p.A626Ac.1878G>ASubstitution - coding silent
ENST00000350997_v71p.K312fs*14c.936delADeletion - Frameshift
ENST00000342887p.L1090Lc.3270G>ASubstitution - coding silent
INF2ENSG00000203485ENST00000398337p.R234Wc.700C>TSubstitution - Missense
TRPC4ENSG00000133107ENST00000379681p.Y295Cc.884A>GSubstitution - Missense
FBXO42ENSG00000037637ENST00000375592p.K642Mc.1925A>TSubstitution - Missense
HDAC1ENSG00000116478ENST00000373548p.A282Tc.844G>ASubstitution - Missense
RBM20ENSG00000203867ENST00000369519p.P393Pc.1179C>TSubstitution - coding silent
ENSG00000183748ENST00000331429p.S1338Yc.4013C>ASubstitution - Missense
ZFYVE1ENSG00000165861ENST00000556143p.R251Rc.753G>ASubstitution - coding silent
KCNA4ENSG00000182255ENST00000328224p.V178Ac.533T>CSubstitution - Missense
CHD2ENSG00000173575ENST00000394196p.E1335fs*5c.4000delGDeletion - Frameshift
CRTC3ENSG00000140577ENST00000268184p.P382Lc.1145C>TSubstitution - Missense
ERCC6ENSG00000225830ENST00000355832p.L518Lc.1552C>TSubstitution - coding silent
PXNENSG00000089159ENST00000397506p.F209Fc.627C>TSubstitution - coding silent
ARNTENSG00000143437ENST00000358595p.R595fs*11c.1783delCDeletion - Frameshift
EPB42ENSG00000166947ENST00000300215p.G576Gc.1728C>TSubstitution - coding silent
MYO5AENSG00000197535ENST00000399231p.K1545Rc.4634A>GSubstitution - Missense
ENST00000257034p.V382Ac.1145T>CSubstitution - Missense
HEPHL1ENSG00000181333ENST00000315765p.S527Sc.1581C>TSubstitution - coding silent
ENST00000298047_v61p.A2144Vc.6431C>TSubstitution - Missense
GPHNENSG00000171723ENST00000478722p.S695Sc.2085A>GSubstitution - coding silent
FAM179BENSG00000198718ENST00000361577p.A232Tc.694G>ASubstitution - Missense
PXDNLENSG00000147485ENST00000356297p.A206Tc.616G>ASubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.?c.3414+1_3414+2insGUnknown
MUC16ENSG00000181143ENST00000397910p.P6711Sc.20131C>TSubstitution - Missense
THEMIS2ENSG00000130775ENST00000373921p.L84fs*41c.245delCDeletion - Frameshift
CTBSENSG00000117151ENST00000370630p.W375*c.1125G>ASubstitution - Nonsense
SSMEM1ENSG00000165120ENST00000297819p.R88Rc.264G>ASubstitution - coding silent
EDN3ENSG00000124205ENST00000337938p.S183Sc.549A>GSubstitution - coding silent
ENST00000237536_v68p.?c.3482+7G>AUnknown
URI1ENSG00000105176ENST00000542441p.F337Lc.1009T>CSubstitution - Missense
SCAF1ENSG00000126461ENST00000360565p.T1178fs*31c.3532delADeletion - Frameshift
ZNF675ENSG00000197372ENST00000359788p.T272Ic.815C>TSubstitution - Missense
LENG8ENSG00000167615ENST00000326764p.Q85_Y86insQc.255_256insCAGInsertion - In frame
GLRA4ENSG00000188828ENST00000372617p.R253Wc.757C>TSubstitution - Missense
PTCH1ENSG00000185920ENST00000331920p.C454Yc.1361G>ASubstitution - Missense
TRIP10ENSG00000125733ENST00000313244p.?c.1658-9C>AUnknown
SNAPC2ENSG00000104976ENST00000221573p.?c.304-1G>TUnknown
ATXN3LENSG00000123594ENST00000380622p.A153Tc.457G>ASubstitution - Missense
MCOLN1ENSG00000090674ENST00000264079p.Y450Hc.1348T>CSubstitution - Missense
ZNF653ENSG00000161914ENST00000293771p.A425Tc.1273G>ASubstitution - Missense
TBCDENSG00000141556ENST00000355528p.A624Tc.1870G>ASubstitution - Missense
RNF213ENSG00000173821ENST00000319921p.R731Rc.2193G>ASubstitution - coding silent
FLOT2ENSG00000132589ENST00000394908p.I319Vc.955A>GSubstitution - Missense
CEP95ENSG00000258890ENST00000556440p.T299Tc.897G>ASubstitution - coding silent
TMEM2ENSG00000135048ENST00000377044p.P708Sc.2122C>TSubstitution - Missense
MYOM2ENSG00000036448ENST00000262113p.C195fs*53c.580_581insTTInsertion - Frameshift
ANKRD20A1ENSG00000196774ENST00000377477p.G509Cc.1525G>TSubstitution - Missense
SNRKENSG00000163788ENST00000454177p.A483Ac.1449G>ASubstitution - coding silent
SLC5A5ENSG00000105641ENST00000222248p.D369Gc.1106A>GSubstitution - Missense
ADAMTSL1ENSG00000178031ENST00000380566p.T231fs*35c.688delADeletion - Frameshift
NOTCH1ENSG00000148400ENST00000277541p.G1788Sc.5362G>ASubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.P250Sc.748C>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.A804Tc.2410G>ASubstitution - Missense
POLNENSG00000130997ENST00000511885p.?c.2456-10C>TUnknown
ZNF608ENSG00000168916ENST00000306315p.F451Cc.1352T>GSubstitution - Missense
PDGFAENSG00000197461ENST00000354513p.H66Hc.198C>TSubstitution - coding silent
PKD1L1ENSG00000158683ENST00000289672p.R2467Cc.7399C>TSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.V1680Ic.5038G>ASubstitution - Missense
FNDC9ENSG00000172568ENST00000312349p.A82Vc.245C>TSubstitution - Missense
HCFC1ENSG00000172534ENST00000310441p.S1507Lc.4520C>TSubstitution - Missense
KIAA1009ENSG00000135315ENST00000403245p.I311fs*2c.925_926insAInsertion - Frameshift
ENST00000331403p.Q53Qc.159G>ASubstitution - coding silent
LRRIQ4ENSG00000188306ENST00000340806p.L287Pc.860T>CSubstitution - Missense
ZNF233ENSG00000159915ENST00000391958p.R422Sc.1266A>TSubstitution - Missense
ADCK4ENSG00000123815ENST00000324464p.T12fs*64c.33delGDeletion - Frameshift
SCAND3ENSG00000232040ENST00000452236p.G20Ec.59G>ASubstitution - Missense
TMEM168ENSG00000146802ENST00000312814p.G51Cc.151G>TSubstitution - Missense
NEK1ENSG00000137601ENST00000507142p.G97Gc.291C>TSubstitution - coding silent
ITGA2ENSG00000164171ENST00000296585p.Q360*c.1078C>TSubstitution - Nonsense
VARSENSG00000204394ENST00000375663p.S483Sc.1449C>TSubstitution - coding silent
ENST00000331699p.L103Lc.307C>TSubstitution - coding silent
TENM2ENSG00000145934ENST00000519204p.G1937fs*50c.5806delGDeletion - Frameshift
GPR116ENSG00000069122ENST00000265417p.R305Cc.913C>TSubstitution - Missense
CCNFENSG00000162063ENST00000397066p.A138Tc.412G>ASubstitution - Missense
CALR3ENSG00000269058ENST00000269881p.G108fs*15c.323delGDeletion - Frameshift
KIF5CENSG00000168280ENST00000435030p.K444fs*2c.1328delADeletion - Frameshift
FCRL5ENSG00000143297ENST00000368189p.W57*c.171G>ASubstitution - Nonsense
C1orf194ENSG00000179902ENST00000369948p.R129Kc.386G>ASubstitution - Missense
AGLENSG00000162688ENST00000361522p.C469Cc.1407C>TSubstitution - coding silent
ABL2ENSG00000143322ENST00000392043p.V324Ac.971T>CSubstitution - Missense
CCSAPENSG00000154429ENST00000366686p.A92Vc.275C>TSubstitution - Missense
ENST00000301659_v70p.E300Dc.900G>TSubstitution - Missense
FBXW10ENSG00000171931ENST00000308799p.G451Rc.1351G>ASubstitution - Missense
TRIP10ENSG00000125733ENST00000596758p.P504Tc.1510C>ASubstitution - Missense
CTAGE5ENSG00000150527ENST00000341749p.L47fs*22c.133delTDeletion - Frameshift
SYNE2ENSG00000054654ENST00000357395p.Q1169fs*6c.3496_3497insTInsertion - Frameshift
UBR4ENSG00000127481ENST00000375267p.P631fs*18c.1892delCDeletion - Frameshift
ZC3H13ENSG00000123200ENST00000242848p.K1006fs*31c.3018delADeletion - Frameshift
ABCC1ENSG00000103222ENST00000399408p.T556fs*14c.1667delCDeletion - Frameshift
ITGA6ENSG00000091409ENST00000264106p.Q1118fs*10c.3351_3352insAInsertion - Frameshift
PSMD6ENSG00000163636ENST00000394431p.L278Ic.832C>ASubstitution - Missense
PRKCEENSG00000171132ENST00000306156p.A15Tc.43G>ASubstitution - Missense
EIF4G3ENSG00000075151ENST00000264211p.T128Mc.383C>TSubstitution - Missense
EIF4G3ENSG00000075151ENST00000374937p.T135Mc.404C>TSubstitution - Missense
DOPEY1ENSG00000083097ENST00000237163p.A83Ac.249G>ASubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.S3319Pc.9955T>CSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.T4765Tc.14295A>GSubstitution - coding silent
DMGDHENSG00000132837ENST00000380311p.P266Sc.796C>TSubstitution - Missense
ADAMTS2ENSG00000087116ENST00000274609p.G273Dc.818G>ASubstitution - Missense
CYTH1ENSG00000108669ENST00000446868p.A374Tc.1120G>ASubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.G3640Dc.10919G>ASubstitution - Missense
TMPRSS13ENSG00000137747ENST00000445164p.A330Vc.989C>TSubstitution - Missense
NM_147171.1p.Q3750fs*7c.11241delGDeletion - Frameshift
MCTP1ENSG00000175471ENST00000515393p.K875fs*4c.2624delADeletion - Frameshift
EPN2ENSG00000072134ENST00000314728p.T470fs*5c.1401delADeletion - Frameshift
NM_181334.1p.A21Ac.63G>TSubstitution - coding silent
CREB5ENSG00000146592ENST00000396298p.E237Kc.709G>ASubstitution - Missense
STEAP4ENSG00000127954ENST00000380079p.R237Cc.709C>TSubstitution - Missense
CORO2AENSG00000106789ENST00000343933p.S301Sc.903C>TSubstitution - coding silent
CARD11ENSG00000198286ENST00000396946p.A968Tc.2902G>ASubstitution - Missense
SLC22A14ENSG00000144671ENST00000273173p.T562Tc.1686G>ASubstitution - coding silent
MASTLENSG00000120539ENST00000375946p.K266Kc.798A>GSubstitution - coding silent
F13BENSG00000143278ENST00000367412p.N32fs*12c.91_92insAInsertion - Frameshift
SYNE2ENSG00000054654ENST00000358025p.Q4784fs*6c.14341_14342insTInsertion - Frameshift
SERPINA10ENSG00000140093ENST00000393096p.T323Ic.968C>TSubstitution - Missense
IGDCC4ENSG00000103742ENST00000352385p.P1123fs*97c.3368delCDeletion - Frameshift
BCL11BENSG00000127152ENST00000357195p.L668fs*55c.1998delCDeletion - Frameshift
ORC1ENSG00000085840ENST00000371568p.?c.721+1G>AUnknown
ASCL3ENSG00000176009ENST00000325884p.P160Tc.478C>ASubstitution - Missense
FSIP2ENSG00000188738ENST00000343098p.D277fs*10c.817delADeletion - Frameshift
MYBBP1AENSG00000132382ENST00000254718p.P646Pc.1938G>ASubstitution - coding silent
SNPHENSG00000101298ENST00000381873p.T51Tc.153G>ASubstitution - coding silent
THEMIS2ENSG00000130775ENST00000373921p.P552fs*5c.1652_1653insCInsertion - Frameshift
SGIP1ENSG00000118473ENST00000371037p.T686Tc.2058A>GSubstitution - coding silent
THEMIS2ENSG00000130775ENST00000373925p.L84fs*41c.245delCDeletion - Frameshift
ENST00000375815p.?c.967-1G>TUnknown
PCK1ENSG00000124253ENST00000319441p.A86Vc.257C>TSubstitution - Missense
CEP89ENSG00000121289ENST00000305768p.E531fs*7c.1592_1595delAAAGDeletion - Frameshift
CHST8ENSG00000124302ENST00000262622p.R258Hc.773G>ASubstitution - Missense
CYTH1ENSG00000108669ENST00000361101p.A374Tc.1120G>ASubstitution - Missense
PIH1D1ENSG00000104872ENST00000262265p.Q251*c.751C>TSubstitution - Nonsense
POLR2AENSG00000181222ENST00000322644p.R805Qc.2414G>ASubstitution - Missense
PXDNLENSG00000147485ENST00000356297p.A328Vc.983C>TSubstitution - Missense
C17orf82ENSG00000187013ENST00000335108p.R66Rc.198G>ASubstitution - coding silent
ENST00000340028p.D88Yc.262G>TSubstitution - Missense
LGI3ENSG00000168481ENST00000306317p.Q291Qc.873G>ASubstitution - coding silent
PSMD6ENSG00000163636ENST00000295901p.L316Ic.946C>ASubstitution - Missense
LRRC24ENSG00000254402ENST00000529415p.L215Lc.645G>ASubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.F1382Fc.4146C>TSubstitution - coding silent
ATP6V0A4ENSG00000105929ENST00000393054p.R191Rc.571C>ASubstitution - coding silent
GLT8D1ENSG00000016864ENST00000394783p.I10Ic.30C>ASubstitution - coding silent
MLLT4ENSG00000130396ENST00000366806p.A545Sc.1633G>TSubstitution - Missense
WDR27ENSG00000184465ENST00000448612p.A405Tc.1213G>ASubstitution - Missense
RBM15BENSG00000179837ENST00000323686p.E325Kc.973G>ASubstitution - Missense
KRT23ENSG00000108244ENST00000209718p.L259Fc.777G>TSubstitution - Missense
GSDMAENSG00000167914ENST00000301659p.E300Dc.900G>TSubstitution - Missense
FANCD2ENSG00000144554ENST00000287647p.D1350Nc.4048G>ASubstitution - Missense
SLX4ENSG00000188827ENST00000294008p.R178Ic.533G>TSubstitution - Missense
ITSN2ENSG00000198399ENST00000355123p.?c.2683-1G>TUnknown
BZW1ENSG00000082153ENST00000452790p.Y399fs*6c.1190delTDeletion - Frameshift
CASP8ENSG00000064012ENST00000264275p.M178Ic.534G>ASubstitution - Missense
ATF2ENSG00000115966ENST00000264110p.?c.1185+7T>CUnknown
TTNENSG00000155657ENST00000342992p.?c.25963-1G>TUnknown
MAPK4ENSG00000141639ENST00000400384p.P279Sc.835C>TSubstitution - Missense
FGFR1ENSG00000077782ENST00000447712p.K502Nc.1506G>TSubstitution - Missense
OR5K2ENSG00000231861ENST00000427338p.R54Wc.160C>TSubstitution - Missense
C2orf71ENSG00000179270ENST00000331664p.P834Sc.2500C>TSubstitution - Missense
NLRC3ENSG00000167984ENST00000301749p.A74Vc.221C>TSubstitution - Missense
C4orf21ENSG00000138658ENST00000309071p.S261Sc.783C>TSubstitution - coding silent
METTL6ENSG00000206562ENST00000383790p.F222fs*19c.666delTDeletion - Frameshift
ZNF548ENSG00000188785ENST00000336128p.E402Kc.1204G>ASubstitution - Missense
SLC11A1ENSG00000018280ENST00000233202p.T448Mc.1343C>TSubstitution - Missense
ARSDENSG00000006756ENST00000381154p.S243Yc.728C>ASubstitution - Missense
MAGEB17ENSG00000182798ENST00000400004p.V246fs*35c.733_734insTInsertion - Frameshift
XRN1ENSG00000114127ENST00000264951p.S981Fc.2942C>TSubstitution - Missense
SH2B1ENSG00000178188ENST00000359285p.G238fs*3c.709delGDeletion - Frameshift
ZNF688ENSG00000229809ENST00000223459p.E116*c.346G>TSubstitution - Nonsense
MAMSTRENSG00000176909ENST00000356751p.S18Sc.54C>TSubstitution - coding silent
TRIM73ENSG00000178809ENST00000323819p.Q15Qc.45G>ASubstitution - coding silent
EML6ENSG00000214595ENST00000356458p.G239Rc.715G>ASubstitution - Missense
PHF21BENSG00000056487ENST00000313237p.T475Tc.1425C>TSubstitution - coding silent
PARP14ENSG00000173193ENST00000474629p.E312Vc.935A>TSubstitution - Missense
ACTL7BENSG00000148156ENST00000374667p.G212Gc.636C>TSubstitution - coding silent
LAMA1ENSG00000101680ENST00000389658p.C1553Cc.4659T>CSubstitution - coding silent
IL17RELENSG00000188263ENST00000389983p.?c.774+3G>AUnknown
BCORL1ENSG00000085185ENST00000303743p.P1755fs*20c.5258delCDeletion - Frameshift
ECE2ENSG00000145194ENST00000359140p.G720Gc.2160C>TSubstitution - coding silent
LMX1BENSG00000136944ENST00000355497p.E55Gc.164A>GSubstitution - Missense
SLC27A4ENSG00000167114ENST00000300456p.R277Rc.831G>ASubstitution - coding silent
PRRC2BENSG00000130723ENST00000357304p.A448Vc.1343C>TSubstitution - Missense
WDR88ENSG00000166359ENST00000361680p.T52Mc.155C>TSubstitution - Missense
PLA2G4CENSG00000105499ENST00000599111p.G60Dc.179G>ASubstitution - Missense
MMP19ENSG00000123342ENST00000394182p.A53Vc.158C>TSubstitution - Missense
GLIPR1L2ENSG00000180481ENST00000378689p.D50Nc.148G>ASubstitution - Missense
OR5D13ENSG00000198877ENST00000361760p.L133Rc.398T>GSubstitution - Missense
FAM120BENSG00000112584ENST00000537664p.?c.2668+3G>AUnknown
JARID2ENSG00000008083ENST00000541660p.L854Ic.2560C>ASubstitution - Missense
ACTN1ENSG00000072110ENST00000394419p.W368*c.1104G>ASubstitution - Nonsense
XAF1ENSG00000132530ENST00000441631p.K97Kc.291G>ASubstitution - coding silent
YWHABENSG00000166913ENST00000353703p.G55Gc.165C>TSubstitution - coding silent
GPR75-ASB3ENSG00000115239ENST00000263634p.L118fs*1c.353delTDeletion - Frameshift
CES5AENSG00000159398ENST00000521992p.?c.897+5G>AUnknown
PCDHB10ENSG00000120324ENST00000239446p.R548Rc.1644C>TSubstitution - coding silent
EIF2AK1ENSG00000086232ENST00000199389p.E169Kc.505G>ASubstitution - Missense
PCSK5ENSG00000099139ENST00000424854p.H1372Rc.4115A>GSubstitution - Missense
TIAM2ENSG00000146426ENST00000456144p.L1678Sc.5033T>CSubstitution - Missense
NGFENSG00000134259ENST00000369512p.V232fs*>10c.695_696delTGDeletion - Frameshift
NM_016377.2p.K57fs*21c.163delADeletion - Frameshift
SLC26A2ENSG00000155850ENST00000286298p.F146fs*26c.432delTDeletion - Frameshift
FBXW7ENSG00000109670ENST00000263981p.S588fs*39c.1761delGDeletion - Frameshift
EVCENSG00000072840ENST00000264956p.P551fs*7c.1647delCDeletion - Frameshift
DDX60LENSG00000181381ENST00000260184p.N1168fs*25c.3503delADeletion - Frameshift
RFX2ENSG00000087903ENST00000303657p.S142fs*72c.423delGDeletion - Frameshift
RNF43ENSG00000108375ENST00000407977p.V299fs*143c.896_897delTGDeletion - Frameshift
YLPM1ENSG00000119596ENST00000238571p.G255fs*3c.754_755insCInsertion - Frameshift
SCML4ENSG00000146285ENST00000369020p.R262Cc.784C>TSubstitution - Missense
RASSF4ENSG00000107551ENST00000340258p.A143Tc.427G>ASubstitution - Missense
ENST00000375089p.A636Vc.1907C>TSubstitution - Missense
EPRSENSG00000136628ENST00000366923p.T1414Ic.4241C>TSubstitution - Missense
RETENSG00000165731ENST00000340058p.R360Wc.1078C>TSubstitution - Missense
EDNRBENSG00000136160ENST00000377211p.G99Gc.297A>GSubstitution - coding silent
PLEKHO1ENSG00000023902ENST00000369124p.R164Cc.490C>TSubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.R586Qc.1757G>ASubstitution - Missense
HSD17B6ENSG00000025423ENST00000322165p.L69Pc.206T>CSubstitution - Missense
EPHA8ENSG00000070886ENST00000374644p.?c.824-7T>CUnknown
DLG5ENSG00000151208ENST00000372391p.G700Rc.2098G>ASubstitution - Missense
SP1ENSG00000185591ENST00000327443p.L277Lc.829T>CSubstitution - coding silent
MS4A14ENSG00000166928ENST00000300187p.D7Nc.19G>ASubstitution - Missense
ENST00000398860p.?c.9525+10A>GUnknown
SPOCK2ENSG00000107742ENST00000412663p.E40Ec.120G>ASubstitution - coding silent
ATP10AENSG00000206190ENST00000356865p.Q920Hc.2760G>TSubstitution - Missense
RBBP4ENSG00000162521ENST00000373493p.T291Ic.872C>TSubstitution - Missense
CNNM2ENSG00000148842ENST00000369875p.A202Tc.604G>ASubstitution - Missense
OPN3ENSG00000054277ENST00000366554p.R71Wc.211C>TSubstitution - Missense
CTTNENSG00000085733ENST00000301843p.?c.901+9G>AUnknown
CDC20ENSG00000117399ENST00000310955p.V125Ic.373G>ASubstitution - Missense
CDC20ENSG00000117399ENST00000310955p.R383Cc.1147C>TSubstitution - Missense
BCL2L14ENSG00000121380ENST00000266434p.E144Dc.432A>TSubstitution - Missense
SYCP1ENSG00000198765ENST00000369518p.G29Rc.85G>ASubstitution - Missense
UBR1ENSG00000159459ENST00000290650p.D239Ec.717C>ASubstitution - Missense
NM_139155.1p.?c.955-6C>AUnknown
ECM1ENSG00000143369ENST00000369049p.A274Ac.822C>TSubstitution - coding silent
ENST00000309024p.K364fs*11c.1089_1090insCInsertion - Frameshift
DDX47ENSG00000213782ENST00000358007p.R197Qc.590G>ASubstitution - Missense
PRAMEF6ENSG00000232423ENST00000376182p.R417fs*5c.1243_1244insCInsertion - Frameshift
RGS16ENSG00000143333ENST00000367558p.S124Nc.371G>ASubstitution - Missense
IL26ENSG00000111536ENST00000229134p.N63fs*5c.188delADeletion - Frameshift
GLIPR1L2ENSG00000180481ENST00000320460p.D50Nc.148G>ASubstitution - Missense
ITGA10ENSG00000143127ENST00000369304p.S917Sc.2751C>TSubstitution - coding silent
FBXW10ENSG00000171931ENST00000395667p.G422Rc.1264G>ASubstitution - Missense
MORC4ENSG00000133131ENST00000355610p.?c.1delAUnknown
BICD2ENSG00000185963ENST00000356884p.P593Hc.1778C>ASubstitution - Missense
CDKL2ENSG00000138769ENST00000429927p.P477Pc.1431C>TSubstitution - coding silent
AIREENSG00000160224ENST00000291582p.G227Dc.680G>ASubstitution - Missense
MBOAT2ENSG00000143797ENST00000305997p.R316Lc.947G>TSubstitution - Missense
DNM2ENSG00000079805ENST00000389253p.S184Sc.552C>ASubstitution - coding silent
DSC2ENSG00000134755ENST00000280904p.T340Tc.1020T>CSubstitution - coding silent
ADRA1AENSG00000120907ENST00000380573p.T111Ac.331A>GSubstitution - Missense
ITIH3ENSG00000162267ENST00000449956p.A2Tc.4G>ASubstitution - Missense
MAGI1ENSG00000151276ENST00000330909p.P789fs*5c.2364_2365insAInsertion - Frameshift
TTNENSG00000155657ENST00000342992p.?c.51332-7T>AUnknown
ENST00000356127p.?c.51326-7T>AUnknown
MROENSG00000134042ENST00000436348p.V168Fc.502G>TSubstitution - Missense
XM_374491.1p.A815Sc.2443G>TSubstitution - Missense
DLX5ENSG00000105880ENST00000222598p.P88Sc.262C>TSubstitution - Missense
MKRN1ENSG00000133606ENST00000255977p.A129Vc.386C>TSubstitution - Missense
ENST00000344886p.L139Lc.417A>GSubstitution - coding silent
CACNG7ENSG00000105605ENST00000391767p.L268Mc.802C>ASubstitution - Missense
ZNF615ENSG00000197619ENST00000376716p.A28Vc.83C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.P16647Pc.49941A>GSubstitution - coding silent
VN1R1ENSG00000178201ENST00000321039p.L141Lc.423T>ASubstitution - coding silent
KDM5CENSG00000126012ENST00000452825p.P1156Lc.3467C>TSubstitution - Missense
ZNF274ENSG00000171606ENST00000326804p.R616Cc.1846C>TSubstitution - Missense
FUT6ENSG00000156413ENST00000286955p.P182Pc.546G>ASubstitution - coding silent
SEC24BENSG00000138802ENST00000399100p.N989Sc.2966A>GSubstitution - Missense
UNC5DENSG00000156687ENST00000404895p.?c.2314-6C>TUnknown
SPARCL1ENSG00000152583ENST00000282470p.L134fs*6c.393_394insAInsertion - Frameshift
LTBP1ENSG00000049323ENST00000407925p.R1179fs*7c.3535_3536insAInsertion - Frameshift
CRYBG3ENSG00000080200ENST00000182096p.G900Cc.2698G>TSubstitution - Missense
PIGZENSG00000119227ENST00000412723p.L475Pc.1424T>CSubstitution - Missense
EIF3BENSG00000106263ENST00000397011p.A403Vc.1208C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.R4479Cc.13435C>TSubstitution - Missense
SASH1ENSG00000111961ENST00000367467p.?c.862+3_862+14delaaaaaaaaaaaaUnknown
QKIENSG00000112531ENST00000361752p.T7Mc.20C>TSubstitution - Missense
SYNJ2ENSG00000078269ENST00000355585p.R546Wc.1636C>TSubstitution - Missense
CDH10ENSG00000040731ENST00000264463p.R711Wc.2131C>TSubstitution - Missense
WFIKKN1ENSG00000127578ENST00000319070p.D208Dc.624C>TSubstitution - coding silent
MRPL19ENSG00000115364ENST00000393909p.L187Lc.561G>ASubstitution - coding silent
KBTBD12ENSG00000187715ENST00000405256p.L156Ic.466T>ASubstitution - Missense
GPR17ENSG00000144230ENST00000393018p.M324Ic.972G>ASubstitution - Missense
ABCB4ENSG00000005471ENST00000359206p.?c.536+7A>GUnknown
KIAA1324LENSG00000164659ENST00000297222p.?c.1966-5T>AUnknown
KIAA1683ENSG00000130518ENST00000392413p.D162fs*27c.484delGDeletion - Frameshift
ENST00000380437p.E87fs*1c.251_252insTInsertion - Frameshift
ATP7AENSG00000165240ENST00000341514p.L586Lc.1758C>TSubstitution - coding silent
IGSF11ENSG00000144847ENST00000393775p.L75Mc.223C>ASubstitution - Missense
VGLL4ENSG00000144560ENST00000273038p.L217Lc.651G>ASubstitution - coding silent
EMP3ENSG00000142227ENST00000270221p.L148fs*>16c.438delCDeletion - Frameshift
THEMISENSG00000172673ENST00000543064p.S493Sc.1479T>CSubstitution - coding silent
ACO2ENSG00000100412ENST00000216254p.T386Ic.1157C>TSubstitution - Missense
POC5ENSG00000152359ENST00000446329p.K547Ic.1640A>TSubstitution - Missense
SLC26A6ENSG00000225697ENST00000395550p.A602Vc.1805C>TSubstitution - Missense
CCDC182ENSG00000166329ENST00000299415p.M22fs*1c.64delADeletion - Frameshift
SEPT4ENSG00000108387ENST00000317268p.R408Lc.1223G>TSubstitution - Missense
GABRB2ENSG00000145864ENST00000274547p.A69Tc.205G>ASubstitution - Missense
TNRC18ENSG00000182095ENST00000328270p.D187Dc.561C>TSubstitution - coding silent
IGFBP3ENSG00000146674ENST00000275521p.M288Ic.864G>ASubstitution - Missense
NM_152274.2p.Y36Yc.108C>TSubstitution - coding silent
SHPKENSG00000197417ENST00000225519p.S90Sc.270G>ASubstitution - coding silent
NEBENSG00000183091ENST00000397345p.L7285fs*15c.21851_21852insAInsertion - Frameshift
TBR1ENSG00000136535ENST00000389554p.A133Tc.397G>ASubstitution - Missense
SDK1ENSG00000146555ENST00000404826p.R780Qc.2339G>ASubstitution - Missense
CALHM2ENSG00000138172ENST00000393235p.R124Cc.370C>TSubstitution - Missense
ZNF574ENSG00000105732ENST00000222339p.A383Vc.1148C>TSubstitution - Missense
RALYLENSG00000184672ENST00000522455p.L214Lc.640C>TSubstitution - coding silent
CSMD1ENSG00000183117ENST00000539096p.D1267Dc.3801C>TSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000050961p.S3096Cc.9287C>GSubstitution - Missense
XM_372262.3p.P218Lc.653C>TSubstitution - Missense
LMX1BENSG00000136944ENST00000373474p.E78Gc.233A>GSubstitution - Missense
JARID2ENSG00000008083ENST00000541660p.Q39Hc.117G>TSubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.M3937Ic.11811G>ASubstitution - Missense
SCLT1ENSG00000151466ENST00000281142p.A541fs*11c.1620_1621insAInsertion - Frameshift
UNC13AENSG00000130477ENST00000519716p.V1478Mc.4432G>ASubstitution - Missense
ELMSAN1ENSG00000156030ENST00000286523p.N314fs*4c.939delCDeletion - Frameshift
ADCK3ENSG00000163050ENST00000366779p.A155Tc.463G>ASubstitution - Missense
ZNF438ENSG00000183621ENST00000361310p.D391Nc.1171G>ASubstitution - Missense
KIAA1462ENSG00000165757ENST00000375377p.R23Rc.69C>TSubstitution - coding silent
PCDH17ENSG00000118946ENST00000377918p.A567Tc.1699G>ASubstitution - Missense
TECTAENSG00000109927ENST00000392793p.A1489Vc.4466C>TSubstitution - Missense
CAPN9ENSG00000135773ENST00000354537p.V144Mc.430G>ASubstitution - Missense
KRT7ENSG00000135480ENST00000331817p.G298Vc.893G>TSubstitution - Missense
DISC1ENSG00000162946ENST00000317586p.P364Pc.1092T>CSubstitution - coding silent
LEMD3ENSG00000174106ENST00000308330p.P794Pc.2382C>TSubstitution - coding silent
TRIM11ENSG00000154370ENST00000284551p.A223Tc.667G>ASubstitution - Missense
C1QBENSG00000173369ENST00000314933p.G39Gc.117C>ASubstitution - coding silent
NTRK1ENSG00000198400ENST00000392302p.L549fs*73c.1641delCDeletion - Frameshift
ROBO3ENSG00000154134ENST00000397801p.G1035Dc.3104G>ASubstitution - Missense
PNLIPENSG00000175535ENST00000369221p.?c.811+10T>AUnknown
HPSE2ENSG00000172987ENST00000370546p.Q413Rc.1238A>GSubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.P96Hc.287C>ASubstitution - Missense
WNK1ENSG00000060237ENST00000537687p.P1689Lc.5066C>TSubstitution - Missense
ENST00000368915p.C171Yc.512G>ASubstitution - Missense
BRMS1ENSG00000174744ENST00000425825p.W261Cc.783G>CSubstitution - Missense
ECM1ENSG00000143369ENST00000369047p.A247Ac.741C>TSubstitution - coding silent
PCNXL3ENSG00000197136ENST00000355703p.K364fs*11c.1089_1090insCInsertion - Frameshift
TRPC4ENSG00000133107ENST00000379681p.?c.2226+2T>AUnknown
C12orf40ENSG00000180116ENST00000324616p.L86Ic.256C>ASubstitution - Missense
SORCS3ENSG00000156395ENST00000369701p.G1203Gc.3609C>TSubstitution - coding silent
ENST00000367349p.N577fs*>4c.1729_1730delAADeletion - Frameshift
IFT140ENSG00000187535ENST00000426508p.Q139Qc.417A>GSubstitution - coding silent
NM_020824.2p.G1546Gc.4638C>TSubstitution - coding silent
ADAM20ENSG00000134007ENST00000256389p.L756fs*10c.2267_2268insTInsertion - Frameshift
FSHBENSG00000131808ENST00000254122p.?c.160-5C>TUnknown
ENST00000306030_v65p.R358Cc.1072C>TSubstitution - Missense
NM_001271.1p.V175fs*18c.522_523insAInsertion - Frameshift
CACNA1HENSG00000196557ENST00000358590p.R348Cc.1042C>TSubstitution - Missense
UNKLENSG00000059145ENST00000403703p.V144Ic.430G>ASubstitution - Missense
CTPS1ENSG00000171793ENST00000372621p.H365Hc.1095T>CSubstitution - coding silent
USP28ENSG00000048028ENST00000003302p.R354Hc.1061G>ASubstitution - Missense
KIAA1614ENSG00000135835ENST00000367588p.T396Ic.1187C>TSubstitution - Missense
KIAA1614ENSG00000135835ENST00000367588p.Q674Hc.2022G>TSubstitution - Missense
OVGP1ENSG00000085465ENST00000369732p.C26*c.78T>ASubstitution - Nonsense
RYR3ENSG00000198838ENST00000389232p.L3716Fc.11146C>TSubstitution - Missense
CLPXENSG00000166855ENST00000300107p.R123Hc.368G>ASubstitution - Missense
CCNKENSG00000090061ENST00000389879p.A347Sc.1039G>TSubstitution - Missense
FBN1ENSG00000166147ENST00000316623p.P731Pc.2193T>CSubstitution - coding silent
NEMFENSG00000165525ENST00000298310p.P715Hc.2144C>ASubstitution - Missense
KIAA1551ENSG00000174718ENST00000312561p.L1297fs*12c.3881_3882insAInsertion - Frameshift
APOBENSG00000084674ENST00000233242p.A3191Vc.9572C>TSubstitution - Missense
HSD17B2ENSG00000086696ENST00000199936p.E249Ec.747G>ASubstitution - coding silent
LRRC40ENSG00000066557ENST00000370952p.A591Vc.1772C>TSubstitution - Missense
PTGER3ENSG00000050628ENST00000460330p.L337Lc.1009C>TSubstitution - coding silent
ENST00000375815p.E286Gc.857A>GSubstitution - Missense
MAGI1ENSG00000151276ENST00000402939p.P789fs*5c.2364_2365insAInsertion - Frameshift
GLDCENSG00000178445ENST00000321612p.I737Vc.2209A>GSubstitution - Missense
ZNF831ENSG00000124203ENST00000371030p.A314Tc.940G>ASubstitution - Missense
SOGA1ENSG00000149639ENST00000237536p.?c.3482+7G>AUnknown
TMEM131ENSG00000075568ENST00000186436p.?c.5029-3C>TUnknown
MPP4ENSG00000082126ENST00000409474p.S404Gc.1210A>GSubstitution - Missense
SLC25A12ENSG00000115840ENST00000422440p.G359Dc.1076G>ASubstitution - Missense
NM_003319p.A20125Vc.60374C>TSubstitution - Missense
RCVRNENSG00000109047ENST00000226193p.E149Qc.445G>CSubstitution - Missense
AURKBENSG00000178999ENST00000585124p.R44Hc.131G>ASubstitution - Missense
SLC35A2ENSG00000102100ENST00000247138p.A180Tc.538G>ASubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.R439Cc.1315C>TSubstitution - Missense
FUT10ENSG00000172728ENST00000327671p.Q455Qc.1365G>ASubstitution - coding silent
LAMA5ENSG00000130702ENST00000252999p.G772Gc.2316C>TSubstitution - coding silent
MN1ENSG00000169184ENST00000302326p.S53Sc.159C>TSubstitution - coding silent
ZNF175ENSG00000105497ENST00000262259p.P11Pc.33T>CSubstitution - coding silent
FGD5ENSG00000154783ENST00000285046p.A799Tc.2395G>ASubstitution - Missense
CDH11ENSG00000140937ENST00000268603p.L782Lc.2344C>TSubstitution - coding silent
ENST00000258092p.D181Nc.541G>ASubstitution - Missense
GLB1ENSG00000170266ENST00000445488p.A435Sc.1303G>TSubstitution - Missense
SCN10AENSG00000185313ENST00000449082p.R1776Gc.5326A>GSubstitution - Missense
RANBP2ENSG00000153201ENST00000283195p.?c.2055+4A>TUnknown
MRPS9ENSG00000135972ENST00000258455p.S197Sc.591C>TSubstitution - coding silent
SMC1AENSG00000072501ENST00000428014p.K134Ec.400A>GSubstitution - Missense
FAM161AENSG00000170264ENST00000405894p.S443Sc.1329A>GSubstitution - coding silent
NM_005689.1p.H706Hc.2118T>CSubstitution - coding silent
ENST00000378682p.?c.2889+7C>TUnknown
DMDENSG00000198947ENST00000378677p.A1006Ac.3018G>ASubstitution - coding silent
SMSENSG00000102172ENST00000404933p.?c.661-10T>GUnknown
SEMA3CENSG00000075223ENST00000265361p.K609Rc.1826A>GSubstitution - Missense
VSIG4ENSG00000155659ENST00000374737p.G279Rc.835G>CSubstitution - Missense
PLCXD2ENSG00000240891ENST00000393934p.K93Kc.279G>ASubstitution - coding silent
CYTH2ENSG00000105443ENST00000452733p.T339Pc.1015A>CSubstitution - Missense
MAP3K19ENSG00000176601ENST00000375845p.R535Mc.1604G>TSubstitution - Missense
FAM193AENSG00000125386ENST00000382839p.L1177Ic.3529C>ASubstitution - Missense
ZNF462ENSG00000148143ENST00000457913p.E2196Gc.6587A>GSubstitution - Missense
APOL1ENSG00000100342ENST00000319136p.G196Gc.588C>TSubstitution - coding silent
TNRC6BENSG00000100354ENST00000454349p.W183*c.549G>ASubstitution - Nonsense
LGSNENSG00000146166ENST00000485906p.S24Nc.71G>ASubstitution - Missense
FAM162BENSG00000183807ENST00000368557p.A105Tc.313G>ASubstitution - Missense
PRSS50ENSG00000206549ENST00000315170p.Q146Qc.438G>ASubstitution - coding silent
ENST00000319589p.S65Sc.195C>TSubstitution - coding silent
MRM1ENSG00000129282ENST00000250156p.A65Tc.193G>ASubstitution - Missense
SNAP91ENSG00000065609ENST00000439399p.K238Kc.714A>GSubstitution - coding silent
PIK3CAENSG00000121879ENST00000263967p.G914Rc.2740G>ASubstitution - Missense
NM_006218.1p.G914Rc.2740G>ASubstitution - Missense
KIRREL2ENSG00000126259ENST00000360202p.V11Ic.31G>ASubstitution - Missense
CDK20ENSG00000156345ENST00000325303p.L231Lc.693C>ASubstitution - coding silent
UBR5ENSG00000104517ENST00000520539p.N1826Nc.5478C>TSubstitution - coding silent
AARS2ENSG00000124608ENST00000244571p.R482Wc.1444C>TSubstitution - Missense
ENST00000334436p.T419Ic.1256C>TSubstitution - Missense
NEBENSG00000183091ENST00000409198p.D3214Dc.9642C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.R7611*c.22831C>TSubstitution - Nonsense
MAP3K13ENSG00000073803ENST00000424227p.R53*c.157C>TSubstitution - Nonsense
USP20ENSG00000136878ENST00000372429p.?c.690+2T>CUnknown
DDX60LENSG00000181381ENST00000260184p.C778Yc.2333G>ASubstitution - Missense
ZBTB43ENSG00000169155ENST00000373457p.M95Ic.285G>ASubstitution - Missense
ADAMTS6ENSG00000049192ENST00000381055p.M812Vc.2434A>GSubstitution - Missense
ZNF346ENSG00000113761ENST00000358149p.K96fs*6c.283delADeletion - Frameshift
ARHGEF11ENSG00000132694ENST00000315174p.R297Qc.890G>ASubstitution - Missense
FCRL5ENSG00000143297ENST00000368188p.W57*c.171G>ASubstitution - Nonsense
TBX15ENSG00000092607ENST00000369429p.S471Yc.1412C>ASubstitution - Missense
NEDD1ENSG00000139350ENST00000557644p.?c.511-4A>GUnknown
ENGASEENSG00000167280ENST00000539857p.D23Ac.68A>CSubstitution - Missense
MYH10ENSG00000133026ENST00000396239p.L1117Lc.3351G>TSubstitution - coding silent
SLC8A1ENSG00000183023ENST00000406785p.N599Nc.1797T>CSubstitution - coding silent
ENST00000319850p.R27Hc.80G>ASubstitution - Missense
PROM1ENSG00000007062ENST00000543373p.D395Nc.1183G>ASubstitution - Missense
EIF4G3ENSG00000075151ENST00000374937p.V570fs*1c.1707delADeletion - Frameshift
CTRCENSG00000162438ENST00000375949p.D53Hc.157G>CSubstitution - Missense
MTCH2ENSG00000109919ENST00000302503p.M22Ic.66G>ASubstitution - Missense
OR51F2ENSG00000176925ENST00000322110p.R336Rc.1006A>CSubstitution - coding silent
NUP98ENSG00000110713ENST00000324932p.E1670Gc.5009A>GSubstitution - Missense
ZBTB40ENSG00000184677ENST00000404138p.H868Hc.2604C>TSubstitution - coding silent
RCN2ENSG00000117906ENST00000394885p.D132Dc.396C>TSubstitution - coding silent
DYRK3ENSG00000143479ENST00000367109p.P136Lc.407C>TSubstitution - Missense
HOMEZENSG00000215271ENST00000357460p.S229Sc.687A>GSubstitution - coding silent
GOLGA3ENSG00000090615ENST00000456883p.T186Tc.558G>TSubstitution - coding silent
PLEKHA5ENSG00000052126ENST00000299275p.T999fs*2c.2987_2988insAInsertion - Frameshift
PRRC2CENSG00000117523ENST00000392078p.E2069Ec.6207A>GSubstitution - coding silent
HDAC1ENSG00000116478ENST00000373548p.S78Pc.232T>CSubstitution - Missense
AMOTL1ENSG00000166025ENST00000433060p.S140Yc.419C>ASubstitution - Missense
UTP20ENSG00000120800ENST00000261637p.R693Tc.2078G>CSubstitution - Missense
PSDENSG00000059915ENST00000020673p.Y420Cc.1259A>GSubstitution - Missense
CPSF7ENSG00000149532ENST00000394888p.I368Vc.1102A>GSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.R2988Rc.8964A>GSubstitution - coding silent
PTX4ENSG00000251692ENST00000447419p.Q261fs*81c.781delCDeletion - Frameshift
ABCC1ENSG00000103222ENST00000399410p.T556fs*14c.1667delCDeletion - Frameshift
USP2ENSG00000036672ENST00000260187p.T536Tc.1608C>TSubstitution - coding silent
CALML3ENSG00000178363ENST00000315238p.G114Ec.341G>ASubstitution - Missense
NM_001271.1p.E1335fs*5c.4000delGDeletion - Frameshift
ABCD4ENSG00000119688ENST00000356924p.T373Ic.1118C>TSubstitution - Missense
PLA2G4FENSG00000168907ENST00000382396p.Q341Hc.1023A>CSubstitution - Missense
ECM1ENSG00000143369ENST00000369049p.R91Kc.272G>ASubstitution - Missense
SART1ENSG00000175467ENST00000312397p.?c.981+5G>AUnknown
SPOCK2ENSG00000107742ENST00000317376p.E40Ec.120G>ASubstitution - coding silent
OR4F15ENSG00000182854ENST00000332238p.T239Tc.717C>ASubstitution - coding silent
LIPCENSG00000166035ENST00000299022p.A299Tc.895G>ASubstitution - Missense
CPSF6ENSG00000111605ENST00000435070p.L144Ic.430T>ASubstitution - Missense
PLET1ENSG00000188771ENST00000338832p.?c.386+9C>TUnknown
THNSL1ENSG00000185875ENST00000376356p.S451fs*15c.1350delTDeletion - Frameshift
TIPINENSG00000075131ENST00000261881p.P42Sc.124C>TSubstitution - Missense
MAP2K1ENSG00000169032ENST00000307102p.D351Gc.1052A>GSubstitution - Missense
RECQL5ENSG00000108469ENST00000584999p.V229Vc.687G>ASubstitution - coding silent
MARCH4ENSG00000144583ENST00000273067p.D48Dc.144C>TSubstitution - coding silent
HOXB13ENSG00000159184ENST00000290295p.?c.602-4G>AUnknown
ENST00000331986p.T2770Ac.8308A>GSubstitution - Missense
MKKSENSG00000125863ENST00000399054p.Q496Qc.1488G>ASubstitution - coding silent
MAGI1ENSG00000151276ENST00000483466p.P789fs*5c.2364_2365insAInsertion - Frameshift
ANKRD20A4ENSG00000172014ENST00000357336p.N459fs*5c.1369delADeletion - Frameshift
DOCK8ENSG00000107099ENST00000432829p.H49Rc.146A>GSubstitution - Missense
ANKRD18BENSG00000230453ENST00000290943p.R9Gc.25A>GSubstitution - Missense
EDN3ENSG00000124205ENST00000311585p.S183Sc.549A>GSubstitution - coding silent
ENST00000246798p.R949Wc.2845C>TSubstitution - Missense
CX3CL1ENSG00000006210ENST00000006053p.V357fs*>41c.1065delGDeletion - Frameshift
EPHA3ENSG00000044524ENST00000336596p.G784Ec.2351G>ASubstitution - Missense
ZNF423ENSG00000102935ENST00000561648p.I911Tc.2732T>CSubstitution - Missense
PWP2ENSG00000241945ENST00000291576p.R733Rc.2199C>TSubstitution - coding silent
FARSAENSG00000179115ENST00000314606p.D121Nc.361G>ASubstitution - Missense
RNF213ENSG00000173821ENST00000456466p.R731Rc.2193G>ASubstitution - coding silent
FASNENSG00000169710ENST00000306749p.R936Wc.2806C>TSubstitution - Missense
ULK2ENSG00000083290ENST00000361658p.G580Gc.1740G>ASubstitution - coding silent
ULK2ENSG00000083290ENST00000361658p.K278fs*130c.834delADeletion - Frameshift
C17orf82ENSG00000187013ENST00000335108p.R66Rc.198G>ASubstitution - coding silent
HEPACAM2ENSG00000188175ENST00000341723p.V24Gc.71T>GSubstitution - Missense
SHFM1ENSG00000127922ENST00000248566p.V48Vc.144A>GSubstitution - coding silent
ENST00000357934p.?c.1483-3C>TUnknown
MST1RENSG00000164078ENST00000296474p.Q516Hc.1548G>TSubstitution - Missense
SLC17A2ENSG00000112337ENST00000377850p.I396Ic.1188C>TSubstitution - coding silent
P2RX1ENSG00000108405ENST00000225538p.P166Pc.498C>TSubstitution - coding silent
BTG3ENSG00000154640ENST00000339775p.S109Sc.327A>GSubstitution - coding silent
MYEOV2ENSG00000172428ENST00000307266p.A152Tc.454G>ASubstitution - Missense
ENSG00000255622ENST00000539533p.A546Vc.1637C>TSubstitution - Missense
ABLIM2ENSG00000163995ENST00000296372p.P115Lc.344C>TSubstitution - Missense
SORCS2ENSG00000184985ENST00000329016p.P75Sc.223C>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000507625p.T511Tc.1533C>ASubstitution - coding silent
LARP1BENSG00000138709ENST00000432347p.R151*c.451C>TSubstitution - Nonsense
DDX60LENSG00000181381ENST00000505890p.C778Yc.2333G>ASubstitution - Missense
DDX60LENSG00000181381ENST00000505890p.S603Sc.1809T>CSubstitution - coding silent
AGBL1ENSG00000166748ENST00000441037p.Q619Qc.1857G>ASubstitution - coding silent
PDE4DENSG00000113448ENST00000317118p.D277Dc.831C>TSubstitution - coding silent
ADAMTS2ENSG00000087116ENST00000274609p.G48Ec.143G>ASubstitution - Missense
MYO10ENSG00000145555ENST00000513610p.R1834*c.5500C>TSubstitution - Nonsense
HAVCR1ENSG00000113249ENST00000425854p.T142Mc.425C>TSubstitution - Missense
JAKMIP2ENSG00000176049ENST00000507386p.L121Fc.361C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.R4408Cc.13222C>TSubstitution - Missense
PNPLA1ENSG00000180316ENST00000457797p.A356Sc.1066G>TSubstitution - Missense
EHMT2ENSG00000204371ENST00000395728p.L308Lc.922C>TSubstitution - coding silent
TRIM40ENSG00000204614ENST00000396581p.A213Ac.639C>TSubstitution - coding silent
SYTL3ENSG00000164674ENST00000297239p.R434Wc.1300C>TSubstitution - Missense
QKIENSG00000112531ENST00000453779p.T7Mc.20C>TSubstitution - Missense
TIAM2ENSG00000146426ENST00000456144p.T387Mc.1160C>TSubstitution - Missense
OFCC1ENSG00000181355ENST00000316020p.Q121Qc.363G>ASubstitution - coding silent
PRICKLE4ENSG00000124593ENST00000359201p.P46Hc.137C>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.L194Lc.580T>CSubstitution - coding silent
AOC1ENSG00000002726ENST00000416793p.C181Yc.542G>ASubstitution - Missense
DGKBENSG00000136267ENST00000258767p.G513Sc.1537G>ASubstitution - Missense
CPED1ENSG00000106034ENST00000450913p.H653Hc.1959C>TSubstitution - coding silent
LAMB4ENSG00000091128ENST00000388780p.D1570Dc.4710C>TSubstitution - coding silent
GSAPENSG00000186088ENST00000257626p.?c.1121-8T>CUnknown
POM121ENSG00000196313ENST00000434423p.G992Dc.2975G>ASubstitution - Missense
EIF2AK1ENSG00000086232ENST00000536084p.E45Kc.133G>ASubstitution - Missense
FGFR1ENSG00000077782ENST00000341462p.K502Nc.1506G>TSubstitution - Missense
ADRA1AENSG00000120907ENST00000380572p.T111Ac.331A>GSubstitution - Missense
MTUS1ENSG00000129422ENST00000400046p.M236Ic.708G>ASubstitution - Missense
SYBUENSG00000147642ENST00000422135p.A519Vc.1556C>TSubstitution - Missense
NUP214ENSG00000126883ENST00000451030p.P1378Lc.4133C>TSubstitution - Missense
FAM78AENSG00000126882ENST00000372269p.A226Tc.676G>ASubstitution - Missense
FAM78AENSG00000126882ENST00000464831p.A198Tc.592G>ASubstitution - Missense
BRINP1ENSG00000078725ENST00000373964p.?c.409+4G>AUnknown
AQP7ENSG00000165269ENST00000379507p.G80Ec.239G>ASubstitution - Missense
AQP7ENSG00000165269ENST00000539936p.G81Ec.242G>ASubstitution - Missense
PNPLA7ENSG00000130653ENST00000406427p.P200Hc.599C>ASubstitution - Missense
ATP11CENSG00000101974ENST00000370543p.?c.1215+7G>AUnknown
HS6ST2ENSG00000171004ENST00000406696p.H75Yc.223C>TSubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.D1873Gc.5618A>GSubstitution - Missense
GRIA3ENSG00000125675ENST00000541091p.A297Tc.889G>ASubstitution - Missense
COL4A5ENSG00000188153ENST00000328300p.S1604Sc.4812C>ASubstitution - coding silent
DAPK1ENSG00000196730ENST00000469640p.S862Sc.2586C>TSubstitution - coding silent
NMRK1ENSG00000106733ENST00000376811p.Q139Rc.416A>GSubstitution - Missense
PCDH11XENSG00000102290ENST00000361724p.R787Cc.2359C>TSubstitution - Missense
ZNF41ENSG00000147124ENST00000397050p.R661Hc.1982G>ASubstitution - Missense
ZNF41ENSG00000147124ENST00000397050p.Y617Yc.1851C>TSubstitution - coding silent
ARSEENSG00000157399ENST00000540563p.V496Dc.1487T>ASubstitution - Missense
PDHA1ENSG00000131828ENST00000545074p.R311Qc.932G>ASubstitution - Missense
CTTNBP2ENSG00000077063ENST00000160373p.L707fs*54c.2119delCDeletion - Frameshift
RFX5ENSG00000143390ENST00000368870p.P19fs*28c.56delCDeletion - Frameshift
NM_012417.2p.V268Ic.802G>ASubstitution - Missense
CD200R1ENSG00000163606ENST00000308611p.A194Vc.581C>TSubstitution - Missense
DAPK1ENSG00000196730ENST00000358077p.Y1275fs*31c.3816delGDeletion - Frameshift
JAG1ENSG00000101384ENST00000254958p.A891Tc.2671G>ASubstitution - Missense
ZDHHC4ENSG00000136247ENST00000396706p.F115fs*3c.337delTDeletion - Frameshift
PTCH1ENSG00000185920ENST00000375274p.G43Ec.128G>ASubstitution - Missense
ENST00000330166p.D1743Nc.5227G>ASubstitution - Missense
ZYG11BENSG00000162378ENST00000294353p.S149Fc.446C>TSubstitution - Missense
TAS2R10ENSG00000121318ENST00000240619p.A148Vc.443C>TSubstitution - Missense
ATP13A1ENSG00000105726ENST00000291503p.S161Sc.483G>ASubstitution - coding silent
ENTPD6ENSG00000197586ENST00000433259p.H98Hc.294C>TSubstitution - coding silent
OR7G1ENSG00000161807ENST00000541538p.N5Nc.15C>TSubstitution - coding silent
MAP2K7ENSG00000076984ENST00000545011p.?c.982-1G>AUnknown
NLRP7ENSG00000167634ENST00000446217p.V742Ac.2225T>CSubstitution - Missense
DIDO1ENSG00000101191ENST00000395335p.G298Dc.893G>ASubstitution - Missense
NFATC2ENSG00000101096ENST00000371564p.R541Rc.1621C>ASubstitution - coding silent
DEPDC5ENSG00000100150ENST00000400242p.?c.279+5G>AUnknown
AP1B1ENSG00000100280ENST00000415447p.G703Gc.2109C>TSubstitution - coding silent
TTC28ENSG00000100154ENST00000397906p.E1688Kc.5062G>ASubstitution - Missense
SONENSG00000159140ENST00000290239p.P40Hc.119C>ASubstitution - Missense
UBR3ENSG00000144357ENST00000392631p.C87Cc.261C>TSubstitution - coding silent
MERTKENSG00000153208ENST00000295408p.G677Rc.2029G>ASubstitution - Missense
DOCK10ENSG00000135905ENST00000409592p.F1146Sc.3437T>CSubstitution - Missense
DOCK10ENSG00000135905ENST00000409592p.Y662Yc.1986C>TSubstitution - coding silent
ABCB6ENSG00000115657ENST00000265316p.H706Hc.2118T>CSubstitution - coding silent
POPDC2ENSG00000121577ENST00000468801p.L271Lc.811C>TSubstitution - coding silent
POPDC2ENSG00000121577ENST00000468801p.L66Lc.196C>TSubstitution - coding silent
INPP4AENSG00000040933ENST00000545415p.V190Ic.568G>ASubstitution - Missense
KANSL3ENSG00000114982ENST00000440133p.V651Ac.1952T>CSubstitution - Missense
RETSATENSG00000042445ENST00000295802p.R293Qc.878G>ASubstitution - Missense
GFPT1ENSG00000198380ENST00000357308p.R530Rc.1590G>ASubstitution - coding silent
SLC8A1ENSG00000183023ENST00000542024p.N599Nc.1797T>CSubstitution - coding silent
HNRNPLLENSG00000143889ENST00000410076p.V100Ac.299T>CSubstitution - Missense
DDX60LENSG00000181381ENST00000260184p.?c.3811-9T>CUnknown
CRYBG3ENSG00000080200ENST00000389622p.G107Cc.319G>TSubstitution - Missense
ZMYND10ENSG00000004838ENST00000360165p.?c.1233-8G>AUnknown
GRM2ENSG00000164082ENST00000395052p.R665Qc.1994G>ASubstitution - Missense
QARSENSG00000172053ENST00000420147p.L156Lc.468G>ASubstitution - coding silent
ENST00000453185p.D175fs*>15c.523delGDeletion - Frameshift
STPG1ENSG00000001460ENST00000438866p.T146fs*>24c.434_435insAInsertion - Frameshift
CAMSAP2ENSG00000118200ENST00000236925p.M1437fs*1c.4303delADeletion - Frameshift
SEMA6CENSG00000143434ENST00000368913p.V505fs*37c.1512_1513insTInsertion - Frameshift
CDK11BENSG00000248333ENST00000317673p.N37fs*17c.110delADeletion - Frameshift
MPZENSG00000158887ENST00000336559p.S242fs*5c.723delGDeletion - Frameshift
VWFENSG00000110799ENST00000572068p.G101fs*19c.302delGDeletion - Frameshift
CCDC65ENSG00000139537ENST00000266984p.I265fs*21c.793_794insAInsertion - Frameshift
FAT3ENSG00000165323ENST00000541502p.L926fs*1c.2771delTDeletion - Frameshift
CTNND1ENSG00000198561ENST00000361391p.N449fs*49c.1341delADeletion - Frameshift
CRTAC1ENSG00000095713ENST00000370591p.G240fs*84c.719delGDeletion - Frameshift
ENST00000344936_v70p.K627fs*4c.1878delCDeletion - Frameshift
ZNF346ENSG00000113761ENST00000503039p.K121fs*6c.358delADeletion - Frameshift
MCTP1ENSG00000175471ENST00000312216p.K654fs*4c.1961delADeletion - Frameshift
PKD2L2ENSG00000078795ENST00000508883p.K575fs*38c.1720delADeletion - Frameshift
DDX60LENSG00000181381ENST00000505890p.L1113fs*38c.3338delTDeletion - Frameshift
SRGAP3ENSG00000196220ENST00000360413p.V826fs*10c.2469_2470insGInsertion - Frameshift
XRN1ENSG00000114127ENST00000544157p.T25fs*25c.73_74insAInsertion - Frameshift
SEC14L3ENSG00000100012ENST00000415957p.G28fs*39c.83delGDeletion - Frameshift
FZR1ENSG00000105325ENST00000395095p.R165fs*60c.487_488insCInsertion - Frameshift
PMFBP1ENSG00000118557ENST00000537465p.E7fs*19c.19_20insGInsertion - Frameshift
C15orf39ENSG00000167173ENST00000567617p.P474fs*91c.1415delCDeletion - Frameshift
ATXN3ENSG00000066427ENST00000429774p.*355fs?c.1062_1063insAInsertion - Frameshift
CTAGE5ENSG00000150527ENST00000341502p.L59fs*22c.169delTDeletion - Frameshift
ACTN1ENSG00000072110ENST00000394419p.A815Vc.2444C>TSubstitution - Missense
ENST00000378024_v70p.P96Hc.287C>ASubstitution - Missense
APBB1ENSG00000166313ENST00000389906p.A613Tc.1837G>ASubstitution - Missense
KIF27ENSG00000165115ENST00000376347p.R257fs*7c.769delADeletion - Frameshift
SMC2ENSG00000136824ENST00000303219p.S1046fs*8c.3130_3131insTInsertion - Frameshift
CYP3A5ENSG00000106258ENST00000343703p.L239fs*1c.716delTDeletion - Frameshift
TFECENSG00000105967ENST00000393485p.K112fs*42c.335delADeletion - Frameshift
CPED1ENSG00000106034ENST00000450913p.F311fs*5c.928delTDeletion - Frameshift
JARID2ENSG00000008083ENST00000541660p.P554fs*57c.1656delCDeletion - Frameshift
QKIENSG00000112531ENST00000392127p.K134fs*14c.394delADeletion - Frameshift
CASTENSG00000153113ENST00000395813p.?c.2037+3_2037+14delaaaaaaaaaaaaUnknown
TBX15ENSG00000092607ENST00000207157p.S365Yc.1094C>ASubstitution - Missense
TBX15ENSG00000092607ENST00000449873p.S199Yc.596C>ASubstitution - Missense
UBE2J2ENSG00000160087ENST00000339385p.T103Mc.308C>TSubstitution - Missense
UBR4ENSG00000127481ENST00000375267p.W2252Lc.6755G>TSubstitution - Missense
UBR4ENSG00000127481ENST00000375267p.D5033Dc.15099C>TSubstitution - coding silent
UBR4ENSG00000127481ENST00000375225p.D108Dc.324C>TSubstitution - coding silent
FCRLAENSG00000132185ENST00000540926p.R210Hc.629G>ASubstitution - Missense
TSNAXENSG00000116918ENST00000413309p.R61Qc.182G>ASubstitution - Missense
EIF4G3ENSG00000075151ENST00000356916p.T254Mc.761C>TSubstitution - Missense
EIF4G3ENSG00000075151ENST00000411888p.T166Mc.497C>TSubstitution - Missense
VWA5B1ENSG00000158816ENST00000289825p.A353Vc.1058C>TSubstitution - Missense
VWA5B1ENSG00000158816ENST00000375083p.A11Sc.31G>TSubstitution - Missense
NFASCENSG00000163531ENST00000367171p.Q4*c.10C>TSubstitution - Nonsense
MACF1ENSG00000127603ENST00000317713p.Q3802Hc.11406A>TSubstitution - Missense
SLC9A1ENSG00000090020ENST00000374086p.A43Tc.127G>ASubstitution - Missense
MAP3K6ENSG00000142733ENST00000486046p.?c.84+1G>AUnknown
RYR2ENSG00000198626ENST00000360064p.D3838Dc.11514C>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.E1089*c.3265G>TSubstitution - Nonsense
RYR2ENSG00000198626ENST00000360064p.R1152Cc.3454C>TSubstitution - Missense
SLC45A1ENSG00000162426ENST00000377479p.T559Ac.1675A>GSubstitution - Missense
LPHN2ENSG00000117114ENST00000370715p.D307Nc.919G>ASubstitution - Missense
SGIP1ENSG00000118473ENST00000237247p.T717Tc.2151A>GSubstitution - coding silent
WDR78ENSG00000152763ENST00000371023p.S159Sc.477C>ASubstitution - coding silent
XM_371254.3p.M2045Vc.6133A>GSubstitution - Missense
CHD5ENSG00000116254ENST00000378021p.?c.1574-6C>TUnknown
ENST00000371287p.?c.492+1G>AUnknown
CCDC163PENSG00000236624ENST00000488405p.Q97Qc.291G>ASubstitution - coding silent
CCDC163PENSG00000236624ENST00000432082p.Q97Qc.291G>ASubstitution - coding silent
PTPRFENSG00000142949ENST00000422171p.N307Dc.919A>GSubstitution - Missense
HIVEP3ENSG00000127124ENST00000372583p.G2229Dc.6686G>ASubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.S5293Fc.15878C>TSubstitution - Missense
ENST00000256343_v70p.Y291Yc.873T>CSubstitution - coding silent
GZMBENSG00000100453ENST00000382540p.L5Lc.15G>ASubstitution - coding silent
WDR20ENSG00000140153ENST00000454394p.L55Lc.165C>GSubstitution - coding silent
EVI5ENSG00000067208ENST00000543509p.?c.1229+2T>CUnknown
CACNA1HENSG00000196557ENST00000348261p.R348Cc.1042C>TSubstitution - Missense
CLEC16AENSG00000038532ENST00000409552p.D339Nc.1015G>ASubstitution - Missense
AGBL1ENSG00000166748ENST00000389298p.Q350Qc.1050G>ASubstitution - coding silent
MYO9AENSG00000066933ENST00000424560p.?c.998+5G>AUnknown
ENST00000256343_v70p.A1061Vc.3182C>TSubstitution - Missense
KIF18BENSG00000186185ENST00000590129p.T714Ic.2141C>TSubstitution - Missense
KIAA0100ENSG00000007202ENST00000528896p.S1846Nc.5537G>ASubstitution - Missense
HIC1ENSG00000177374ENST00000322941p.A67Tc.199G>ASubstitution - Missense
FBXW10ENSG00000171931ENST00000308799p.H589Yc.1765C>TSubstitution - Missense
SREBF1ENSG00000072310ENST00000338854p.R595Qc.1784G>ASubstitution - Missense
CHST5ENSG00000135702ENST00000541075p.R183Wc.547C>TSubstitution - Missense
TBCDENSG00000141556ENST00000397466p.A238Tc.712G>ASubstitution - Missense
RECQL5ENSG00000108469ENST00000317905p.V229Vc.687G>ASubstitution - coding silent
SDK2ENSG00000069188ENST00000392650p.Y1761Yc.5283C>TSubstitution - coding silent
PITPNC1ENSG00000154217ENST00000335257p.V268Ic.802G>ASubstitution - Missense
SRSF1ENSG00000136450ENST00000582730p.I42Nc.125T>ASubstitution - Missense
SEPT4ENSG00000108387ENST00000412945p.R400Lc.1199G>TSubstitution - Missense
SEPT4ENSG00000108387ENST00000393086p.R389Lc.1166G>TSubstitution - Missense
DDX49ENSG00000105671ENST00000438170p.R23Hc.68G>ASubstitution - Missense
UNC13AENSG00000130477ENST00000252773p.V1478Mc.4432G>ASubstitution - Missense
ENST00000344943p.R83Wc.247C>TSubstitution - Missense
DNM2ENSG00000079805ENST00000314646p.S184Sc.552C>ASubstitution - coding silent
PTPRMENSG00000173482ENST00000400060p.R631*c.1891C>TSubstitution - Nonsense
MYH14ENSG00000105357ENST00000440075p.L1086Lc.3256C>TSubstitution - coding silent
ZNF233ENSG00000159915ENST00000334152p.R404Sc.1212A>TSubstitution - Missense
TMEM145ENSG00000167619ENST00000301204p.G388Wc.1162G>TSubstitution - Missense
HNRNPUL1ENSG00000105323ENST00000378215p.Q356Qc.1068G>ASubstitution - coding silent
KCTD15ENSG00000153885ENST00000430256p.?c.387+7C>TUnknown
ATP13A1ENSG00000105726ENST00000291503p.H503Hc.1509C>TSubstitution - coding silent
RING1ENSG00000204227ENST00000374656p.?c.845+5G>TUnknown
GPR111ENSG00000164393ENST00000296862p.S117Cc.350C>GSubstitution - Missense
MEP1AENSG00000112818ENST00000230588p.F441Lc.1323C>ASubstitution - Missense
ENST00000371401p.?c.827-1G>AUnknown
SPATS1ENSG00000249481ENST00000323108p.F130Vc.388T>GSubstitution - Missense
ZNF76ENSG00000065029ENST00000373953p.I110Tc.329T>CSubstitution - Missense
TAF11ENSG00000064995ENST00000361288p.D73Nc.217G>ASubstitution - Missense
ENST00000416621p.R105Cc.313C>TSubstitution - Missense
ACSM4ENSG00000215009ENST00000399422p.R6Hc.17G>ASubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.L2666Ic.7996C>ASubstitution - Missense
PKHD1ENSG00000170927ENST00000340994p.L2666Ic.7996C>ASubstitution - Missense
GUCY1A2ENSG00000152402ENST00000282249p.S424Fc.1271C>TSubstitution - Missense
PCDH1ENSG00000156453ENST00000394536p.R789Hc.2366G>ASubstitution - Missense
ABLIM1ENSG00000099204ENST00000277895p.I613Ic.1839C>TSubstitution - coding silent
NEURL1ENSG00000107954ENST00000369777p.R531Rc.1593C>TSubstitution - coding silent
ENST00000325103_v70p.Q442Qc.1326G>ASubstitution - coding silent
MYO5AENSG00000197535ENST00000358212p.A993Vc.2978C>TSubstitution - Missense
SNX29ENSG00000048471ENST00000323433p.R358Cc.1072C>TSubstitution - Missense
RASSF4ENSG00000107551ENST00000334940p.A152Tc.454G>ASubstitution - Missense
CHTOPENSG00000160679ENST00000368694p.A6Ac.18G>ASubstitution - coding silent
KCNK9ENSG00000169427ENST00000522317p.S373Sc.1119C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000448038p.R7928*c.23782C>TSubstitution - Nonsense
CCNYENSG00000108100ENST00000374704p.R307Hc.920G>ASubstitution - Missense
ARMC4ENSG00000169126ENST00000434029p.I84Vc.250A>GSubstitution - Missense
MAP3K8ENSG00000107968ENST00000375322p.A40Vc.119C>TSubstitution - Missense
ZNF438ENSG00000183621ENST00000452305p.G374Ac.1121G>CSubstitution - Missense
CRTAC1ENSG00000095713ENST00000370591p.G496Rc.1486G>ASubstitution - Missense
CYP2C8ENSG00000138115ENST00000539050p.P174Hc.521C>ASubstitution - Missense
MYOFENSG00000138119ENST00000371501p.K1223Nc.3669A>TSubstitution - Missense
EXOC6ENSG00000138190ENST00000371547p.I787Ic.2361A>TSubstitution - coding silent
OPN4ENSG00000122375ENST00000443292p.R369Rc.1105A>CSubstitution - coding silent
ASCC1ENSG00000138303ENST00000342444p.K110Nc.330G>TSubstitution - Missense
TBATAENSG00000166220ENST00000545575p.H77Hc.231C>TSubstitution - coding silent
KBTBD4ENSG00000123444ENST00000430070p.F449Sc.1346T>CSubstitution - Missense
SIGIRRENSG00000185187ENST00000382520p.G354Gc.1062C>TSubstitution - coding silent
GLB1L3ENSG00000166105ENST00000389887p.T81Ac.241A>GSubstitution - Missense
ENST00000317011_v70p.A22Tc.64G>ASubstitution - Missense
TMPRSS13ENSG00000137747ENST00000526090p.A330Vc.989C>TSubstitution - Missense
ARHGAP20ENSG00000137727ENST00000533353p.S127Tc.379T>ASubstitution - Missense
OR4A16ENSG00000181961ENST00000314721p.S52Sc.156C>ASubstitution - coding silent
OR51L1ENSG00000176798ENST00000321543p.G18Gc.54T>GSubstitution - coding silent
TRIM49BENSG00000182053ENST00000332682p.R108Mc.323G>TSubstitution - Missense
SPTBN2ENSG00000173898ENST00000529997p.I929Tc.2786T>CSubstitution - Missense
ENST00000317568_v70p.A54Dc.161C>ASubstitution - Missense
CPSF7ENSG00000149532ENST00000340437p.I411Vc.1231A>GSubstitution - Missense
OR9I1ENSG00000172377ENST00000302610p.L29Lc.85C>TSubstitution - coding silent
CTNND1ENSG00000198561ENST00000399050p.D626Gc.1877A>GSubstitution - Missense
TRIM34ENSG00000258659ENST00000514226p.E208Dc.624A>TSubstitution - Missense
ENST00000326876p.I174Nc.521T>ASubstitution - Missense
OR5L2ENSG00000205030ENST00000378397p.E4Dc.12A>CSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.N443Nc.1329T>CSubstitution - coding silent
C12orf42ENSG00000179088ENST00000315192p.?c.148-1G>AUnknown
ANO1ENSG00000131620ENST00000316296p.A568Ac.1704G>ASubstitution - coding silent
NEDD1ENSG00000139350ENST00000557644p.?c.942+2T>CUnknown
MCRS1ENSG00000187778ENST00000549528p.R50Mc.149G>TSubstitution - Missense
C12orf40ENSG00000180116ENST00000398716p.L9Ic.25C>ASubstitution - Missense
C1orf159ENSG00000131591ENST00000448924p.G72Gc.216C>TSubstitution - coding silent
C1orf159ENSG00000131591ENST00000448924p.A370Vc.1109C>TSubstitution - Missense
MYO16ENSG00000041515ENST00000251041p.?c.297+9C>TUnknown
FCRL5ENSG00000143297ENST00000356953p.W57*c.171G>ASubstitution - Nonsense
FCRL3ENSG00000160856ENST00000368186p.G484Gc.1452G>ASubstitution - coding silent
FHAD1ENSG00000142621ENST00000358897p.F534Cc.1601T>GSubstitution - Missense
ADAMTSL4ENSG00000143382ENST00000369039p.A925Tc.2773G>ASubstitution - Missense
CHD1LENSG00000131778ENST00000369258p.V724Ic.2170G>ASubstitution - Missense
SCN1AENSG00000144285ENST00000303395p.Y1031Yc.3093T>CSubstitution - coding silent
SCN1AENSG00000144285ENST00000375405p.Y1020Yc.3060T>CSubstitution - coding silent
SCN2AENSG00000136531ENST00000375437p.R275*c.823C>TSubstitution - Nonsense
PHF20L1ENSG00000129292ENST00000395386p.K298fs*66c.887delADeletion - Frameshift
PHF20L1ENSG00000129292ENST00000337920p.K272fs*>14c.809delADeletion - Frameshift
KCNQ3ENSG00000184156ENST00000388996p.P92Pc.276G>ASubstitution - coding silent
ADCY8ENSG00000155897ENST00000286355p.R852Qc.2555G>ASubstitution - Missense
FAM49BENSG00000153310ENST00000522746p.I49Ic.147C>TSubstitution - coding silent
DLC1ENSG00000164741ENST00000276297p.?c.4292+4A>GUnknown
FER1L6ENSG00000214814ENST00000399018p.P969Sc.2905C>TSubstitution - Missense
ASTN2ENSG00000148219ENST00000361209p.P1243Lc.3728C>TSubstitution - Missense
ASTN2ENSG00000148219ENST00000288520p.P395Lc.1184C>TSubstitution - Missense
ASTN2ENSG00000148219ENST00000313400p.P1294Lc.3881C>TSubstitution - Missense
DEC1ENSG00000173077ENST00000374016p.M29Tc.86T>CSubstitution - Missense
RGS3ENSG00000138835ENST00000374140p.K1165Kc.3495G>ASubstitution - coding silent
RGS3ENSG00000138835ENST00000462403p.K278Kc.834G>ASubstitution - coding silent
GPR20ENSG00000204882ENST00000377741p.P33Pc.99C>TSubstitution - coding silent
COL22A1ENSG00000169436ENST00000303045p.E391Kc.1171G>ASubstitution - Missense
KCNK9ENSG00000169427ENST00000303015p.S373Sc.1119C>TSubstitution - coding silent
ENST00000355497_v68p.E78Gc.233A>GSubstitution - Missense
MRRFENSG00000148187ENST00000344641p.R251Rc.753G>ASubstitution - coding silent
DAB2IPENSG00000136848ENST00000259371p.V285Mc.853G>ASubstitution - Missense
NUP214ENSG00000126883ENST00000359428p.P1377Lc.4130C>TSubstitution - Missense
USP20ENSG00000136878ENST00000372429p.?c.690+2T>CUnknown
NTMT1ENSG00000148335ENST00000372480p.V5Ac.14T>CSubstitution - Missense
USP20ENSG00000136878ENST00000315480p.?c.690+2T>CUnknown
MPDZENSG00000107186ENST00000541718p.T451Ac.1351A>GSubstitution - Missense
NUP188ENSG00000095319ENST00000372577p.M652Tc.1955T>CSubstitution - Missense
GARNL3ENSG00000136895ENST00000373387p.T909Ac.2725A>GSubstitution - Missense
RTP1ENSG00000175077ENST00000312295p.V263Ic.787G>ASubstitution - Missense
TBCCD1ENSG00000113838ENST00000338733p.A72Ac.216G>ASubstitution - coding silent
ECE2ENSG00000145194ENST00000402825p.G867Gc.2601C>TSubstitution - coding silent
PSMD2ENSG00000175166ENST00000310118p.T736Ac.2206A>GSubstitution - Missense
VWA5B2ENSG00000145198ENST00000426955p.L134Mc.400C>ASubstitution - Missense
POMT1ENSG00000130714ENST00000372228p.P336Hc.1007C>ASubstitution - Missense
NPY1RENSG00000164128ENST00000296533p.F286Lc.856T>CSubstitution - Missense
NPY5RENSG00000164129ENST00000338566p.Q322Qc.966G>ASubstitution - coding silent
PROM1ENSG00000007062ENST00000447510p.D404Nc.1210G>ASubstitution - Missense
KCNH8ENSG00000183960ENST00000328405p.R486Kc.1457G>ASubstitution - Missense
OPA1ENSG00000198836ENST00000361510p.A166Vc.497C>TSubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.G2058fs*50c.6169delGDeletion - Frameshift
ENST00000388903p.G1891fs*50c.5668delGDeletion - Frameshift
TRAPPC11ENSG00000168538ENST00000334690p.M1Ic.3G>ASubstitution - Missense
QDPRENSG00000151552ENST00000281243p.G93fs*14c.278delGDeletion - Frameshift
GALNTL6ENSG00000174473ENST00000506823p.?c.139-3C>AUnknown
NEK1ENSG00000137601ENST00000507142p.G97Gc.291C>TSubstitution - coding silent
RPL26L1ENSG00000037241ENST00000265100p.I49Ic.147C>TSubstitution - coding silent
STK10ENSG00000072786ENST00000176763p.?c.1006-8T>AUnknown
MRPS30ENSG00000112996ENST00000507110p.D103Dc.309C>TSubstitution - coding silent
NIM1KENSG00000177453ENST00000326035p.R77Qc.230G>ASubstitution - Missense
GRM6ENSG00000113262ENST00000231188p.L759Lc.2277C>TSubstitution - coding silent
ZNF354AENSG00000169131ENST00000335815p.S64Ac.190T>GSubstitution - Missense
COL23A1ENSG00000050767ENST00000407622p.N283fs*>27c.848delADeletion - Frameshift
PROP1ENSG00000175325ENST00000308304p.R65Cc.193C>TSubstitution - Missense
RMND5BENSG00000145916ENST00000313386p.Q118Kc.352C>ASubstitution - Missense
MXD3ENSG00000213347ENST00000423571p.S196Nc.587G>ASubstitution - Missense
EHMT2ENSG00000204371ENST00000375537p.L251Lc.751C>TSubstitution - coding silent
SLC44A4ENSG00000204385ENST00000229729p.?c.702-7C>TUnknown
SAPCD1ENSG00000228727ENST00000415669p.?c.352-7C>TUnknown
PDE4DENSG00000113448ENST00000340635p.D568Dc.1704C>TSubstitution - coding silent
PDE4DENSG00000113448ENST00000502484p.D507Dc.1521C>TSubstitution - coding silent
PDE4DENSG00000113448ENST00000405755p.D446Dc.1338C>TSubstitution - coding silent
PDE4DENSG00000113448ENST00000360047p.D432Dc.1296C>TSubstitution - coding silent
ITPR3ENSG00000096433ENST00000374316p.T1573Tc.4719G>ASubstitution - coding silent
USP31ENSG00000103404ENST00000219689p.L1154Lc.3462G>ASubstitution - coding silent
POLR3EENSG00000058600ENST00000299853p.P293Sc.877C>TSubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.R2962Rc.8886G>ASubstitution - coding silent
PKD1ENSG00000008710ENST00000262304p.A4003Tc.12007G>ASubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.A3407fs*78c.10219delGDeletion - Frameshift
LCMT1ENSG00000205629ENST00000399069p.G28Gc.84C>TSubstitution - coding silent
TNRC6AENSG00000090905ENST00000395799p.P453Sc.1357C>TSubstitution - Missense
PALB2ENSG00000083093ENST00000261584p.N821Nc.2463T>CSubstitution - coding silent
USE1ENSG00000053501ENST00000263897p.H165Rc.494A>GSubstitution - Missense
ENST00000319396p.Q24fs*13c.66delCDeletion - Frameshift
ENST00000319396p.Q24fs*13c.66delCDeletion - Frameshift
NWD1ENSG00000188039ENST00000524140p.A1112Ac.3336G>ASubstitution - coding silent
NWD1ENSG00000188039ENST00000339803p.A977Ac.2931G>ASubstitution - coding silent
NWD1ENSG00000188039ENST00000524140p.L337fs*20c.1003_1004insCInsertion - Frameshift
OR10H2ENSG00000171942ENST00000305899p.C97Rc.289T>CSubstitution - Missense
WIZENSG00000011451ENST00000389282p.R94Ic.281G>TSubstitution - Missense
WIZENSG00000011451ENST00000389282p.R58fs*15c.167_168insCInsertion - Frameshift
BRD4ENSG00000141867ENST00000371835p.S563fs*21c.1687delADeletion - Frameshift
ZNF224ENSG00000267680ENST00000336976p.D207Dc.621C>TSubstitution - coding silent
PSG9ENSG00000183668ENST00000270077p.S226Nc.677G>ASubstitution - Missense
PSG8ENSG00000124467ENST00000306511p.I219Vc.655A>GSubstitution - Missense
PSG8ENSG00000124467ENST00000404209p.I219Vc.655A>GSubstitution - Missense
TMIGD2ENSG00000167664ENST00000301272p.W173*c.519G>ASubstitution - Nonsense
ZNF574ENSG00000105732ENST00000359044p.A293Vc.878C>TSubstitution - Missense
NM_133170.2p.N121Nc.363C>TSubstitution - coding silent
NEURL2ENSG00000124257ENST00000372518p.P102Pc.306C>ASubstitution - coding silent
DBNDD2ENSG00000244274ENST00000372717p.R6Rc.18G>ASubstitution - coding silent
NEBENSG00000183091ENST00000427231p.A1880Sc.5638G>TSubstitution - Missense
NEBENSG00000183091ENST00000397345p.A1880Sc.5638G>TSubstitution - Missense
NEBENSG00000183091ENST00000427231p.D3457Dc.10371C>TSubstitution - coding silent
NEBENSG00000183091ENST00000427231p.L7285fs*15c.21851_21852insAInsertion - Frameshift
NEBENSG00000183091ENST00000409198p.L5584fs*15c.16748_16749insAInsertion - Frameshift
ENST00000334436p.K347fs*2c.1037delADeletion - Frameshift
ZEB2ENSG00000169554ENST00000303660p.Y1070Yc.3210C>TSubstitution - coding silent
KITENSG00000157404ENST00000288135p.S967Sc.2901C>ASubstitution - coding silent
CWH43ENSG00000109182ENST00000226432p.G361Gc.1083G>TSubstitution - coding silent
CCDC148ENSG00000153237ENST00000283233p.E261Dc.783A>TSubstitution - Missense
ARL6IP6ENSG00000177917ENST00000326446p.A210Ac.630G>ASubstitution - coding silent
FMNL2ENSG00000157827ENST00000288670p.H339Yc.1015C>TSubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.M796Ic.2388G>ASubstitution - Missense
WFS1ENSG00000109501ENST00000226760p.A677Tc.2029G>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.?c.3662+5deltUnknown
EVCENSG00000072840ENST00000264956p.P483Pc.1449G>ASubstitution - coding silent
EVCENSG00000072840ENST00000264956p.P82Sc.244C>TSubstitution - Missense
FERD3LENSG00000146618ENST00000275461p.P5Sc.13C>TSubstitution - Missense
WDR60ENSG00000126870ENST00000407559p.Q482Qc.1446G>ASubstitution - coding silent
MNX1ENSG00000130675ENST00000252971p.Q313Lc.938A>TSubstitution - Missense
EN2ENSG00000164778ENST00000297375p.T270Tc.810G>ASubstitution - coding silent
DERL3ENSG00000099958ENST00000318109p.A157Vc.470C>TSubstitution - Missense
GNAZENSG00000128266ENST00000248996p.R24Hc.71G>ASubstitution - Missense
PPM1FENSG00000100034ENST00000263212p.Q417fs*>38c.1249delCDeletion - Frameshift
ENSG00000187905ENST00000342608p.L84Pc.251T>CSubstitution - Missense
ENSG00000187905ENST00000543388p.L84Pc.251T>CSubstitution - Missense
LZTR1ENSG00000099949ENST00000215739p.P637Pc.1911T>CSubstitution - coding silent
SCN3AENSG00000153253ENST00000283254p.H598Hc.1794C>TSubstitution - coding silent
SCN3AENSG00000153253ENST00000409101p.H598Hc.1794C>TSubstitution - coding silent
SCN3AENSG00000153253ENST00000283254p.T1542Pc.4624A>CSubstitution - Missense
SCN3AENSG00000153253ENST00000409101p.T1493Pc.4477A>CSubstitution - Missense
UPB1ENSG00000100024ENST00000326010p.L191Lc.573G>ASubstitution - coding silent
UBR3ENSG00000144357ENST00000418381p.?c.685+2T>CUnknown
UBR3ENSG00000144357ENST00000392632p.C119Cc.357C>TSubstitution - coding silent
XIRP2ENSG00000163092ENST00000295237p.G1160Gc.3480G>TSubstitution - coding silent
SCN9AENSG00000169432ENST00000375387p.E434fs*36c.1299delADeletion - Frameshift
SCN9AENSG00000169432ENST00000409672p.E433fs*36c.1296delADeletion - Frameshift
PCDHB10ENSG00000120324ENST00000239446p.D70Dc.210T>CSubstitution - coding silent
PCDHB8ENSG00000120322ENST00000239444p.A352Ec.1055C>ASubstitution - Missense
PCDHB8ENSG00000120322ENST00000239444p.S543Sc.1629C>TSubstitution - coding silent
SGCDENSG00000170624ENST00000337851p.A276Tc.826G>ASubstitution - Missense
SPARCENSG00000113140ENST00000231061p.V41Ac.122T>CSubstitution - Missense
FAT2ENSG00000086570ENST00000261800p.R3188Hc.9563G>ASubstitution - Missense
WRNIP1ENSG00000124535ENST00000380773p.T387Ic.1160C>TSubstitution - Missense
MYO10ENSG00000145555ENST00000274203p.R1834*c.5500C>TSubstitution - Nonsense
GABRB2ENSG00000145864ENST00000274547p.R138Hc.413G>ASubstitution - Missense
FBXL7ENSG00000183580ENST00000504595p.P488Lc.1463C>TSubstitution - Missense
DDR1ENSG00000204580ENST00000376575p.I690Tc.2069T>CSubstitution - Missense
DDR1ENSG00000204580ENST00000324771p.I684Tc.2051T>CSubstitution - Missense
TRIM15ENSG00000204610ENST00000376694p.R305Wc.913C>TSubstitution - Missense
TRIM40ENSG00000204614ENST00000307859p.A184Ac.552C>TSubstitution - coding silent
SRPK2ENSG00000135250ENST00000357311p.D591Ec.1773C>GSubstitution - Missense
BAG6ENSG00000204463ENST00000375976p.G144Dc.431G>ASubstitution - Missense
BAG6ENSG00000204463ENST00000404765p.G144Dc.431G>ASubstitution - Missense
LTBENSG00000227507ENST00000429299p.D227Nc.679G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.L12Lc.36G>ASubstitution - coding silent
HLA-CENSG00000204525ENST00000383329p.L12Lc.36G>ASubstitution - coding silent
HLA-BENSG00000234745ENST00000412585p.T211fs*10c.620_621insCInsertion - Frameshift
THSD7AENSG00000005108ENST00000423059p.C903fs*7c.2706delCDeletion - Frameshift
DOCK4ENSG00000128512ENST00000437633p.?c.978-1G>TUnknown
DOCK4ENSG00000128512ENST00000437633p.D1208Nc.3622G>ASubstitution - Missense
ENST00000342288p.D1205Nc.3613G>ASubstitution - Missense
LRRN3ENSG00000173114ENST00000308478p.A566Vc.1697C>TSubstitution - Missense
NRCAMENSG00000091129ENST00000379028p.?c.107-2delaUnknown
PNPLA8ENSG00000135241ENST00000257694p.E166Kc.496G>ASubstitution - Missense
LAMB4ENSG00000091128ENST00000205386p.D1570Dc.4710C>TSubstitution - coding silent
LAMB1ENSG00000091136ENST00000222399p.D1133Gc.3398A>GSubstitution - Missense
BCAP29ENSG00000075790ENST00000445771p.F98Lc.292T>CSubstitution - Missense
CDHR3ENSG00000128536ENST00000317716p.G215Cc.643G>TSubstitution - Missense
DGKBENSG00000136267ENST00000403951p.G513Sc.1537G>ASubstitution - Missense
CPED1ENSG00000106034ENST00000310396p.N397fs*9c.1189_1190insTInsertion - Frameshift
KELENSG00000197993ENST00000355265p.I278Lc.832A>CSubstitution - Missense
KCND2ENSG00000184408ENST00000331113p.I95Ic.285C>TSubstitution - coding silent
CTTNBP2ENSG00000077063ENST00000160373p.K1168Rc.3503A>GSubstitution - Missense
TNS3ENSG00000136205ENST00000311160p.?c.587-1G>AUnknown
NPC1L1ENSG00000015520ENST00000289547p.Y564Cc.1691A>GSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.?c.11841+4T>CUnknown
CHPF2ENSG00000033100ENST00000035307p.A670Tc.2008G>ASubstitution - Missense
AGAP3ENSG00000133612ENST00000397238p.T824Mc.2471C>TSubstitution - Missense
ASIC3ENSG00000213199ENST00000357922p.V89Ic.265G>ASubstitution - Missense
PDGFAENSG00000197461ENST00000402802p.H66Hc.198C>TSubstitution - coding silent
TNRC18ENSG00000182095ENST00000430969p.D2355Dc.7065C>TSubstitution - coding silent
GRB10ENSG00000106070ENST00000398812p.L403Fc.1207C>TSubstitution - Missense
RADILENSG00000157927ENST00000399583p.I1046Fc.3136A>TSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.P2802Lc.8405C>TSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.T1508Kc.4523C>ASubstitution - Missense
ENST00000319379p.T1453Kc.4358C>ASubstitution - Missense
ENST00000319379p.M1792Ic.5376G>ASubstitution - Missense
UPP1ENSG00000183696ENST00000331803p.?c.793+7G>AUnknown
ABCA13ENSG00000179869ENST00000435803p.T254Tc.762C>TSubstitution - coding silent
KLF10ENSG00000155090ENST00000285407p.R449Rc.1347G>ASubstitution - coding silent
VPS13BENSG00000132549ENST00000357162p.V3773Ac.11318T>CSubstitution - Missense
MCM7ENSG00000166508ENST00000303887p.Q87Rc.260A>GSubstitution - Missense
ENST00000316490p.S4082Gc.12244A>GSubstitution - Missense
PDPRENSG00000090857ENST00000288050p.R481Rc.1443G>ASubstitution - coding silent
PMFBP1ENSG00000118557ENST00000237353p.S544Fc.1631C>TSubstitution - Missense
PMFBP1ENSG00000118557ENST00000237353p.E7fs*19c.19_20insGInsertion - Frameshift
HPENSG00000257017ENST00000228226p.G227Rc.679G>ASubstitution - Missense
ENST00000335106p.K197Rc.590A>GSubstitution - Missense
ZNF23ENSG00000167377ENST00000357254p.E277Kc.829G>ASubstitution - Missense
SCNN1GENSG00000166828ENST00000300061p.?c.1493+7T>CUnknown
PRUNE2ENSG00000106772ENST00000376718p.A670Vc.2009C>TSubstitution - Missense
NMRK1ENSG00000106733ENST00000361092p.Q135Rc.404A>GSubstitution - Missense
NOTCH1ENSG00000148400ENST00000277541p.P668Sc.2002C>TSubstitution - Missense
SNAPC4ENSG00000165684ENST00000298532p.R713Qc.2138G>ASubstitution - Missense
CAMSAP1ENSG00000130559ENST00000389532p.R714Rc.2142G>ASubstitution - coding silent
OGNENSG00000106809ENST00000447356p.L2Lc.4C>TSubstitution - coding silent
SPIN1ENSG00000106723ENST00000375859p.G188Gc.564C>TSubstitution - coding silent
CTSLENSG00000135047ENST00000343150p.V281Ac.842T>CSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.H1520Hc.4560C>TSubstitution - coding silent
SPATA31D1ENSG00000214929ENST00000344803p.P250Sc.748C>TSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.?c.303-10C>TUnknown
SPATA31D1ENSG00000214929ENST00000344803p.?c.303-10C>TUnknown
AKT2ENSG00000105221ENST00000392038p.R251Wc.751C>TSubstitution - Missense
ZBTB7AENSG00000178951ENST00000322357p.L33Lc.97C>TSubstitution - coding silent
FCGBPENSG00000090920ENST00000221347p.E3861delEc.11581_11583delGAGDeletion - In frame
FCGBPENSG00000090920ENST00000221347p.A4679Ac.14037A>GSubstitution - coding silent
DLL3ENSG00000090932ENST00000205143p.T249Mc.746C>TSubstitution - Missense
PLEKHG2ENSG00000090924ENST00000409794p.?c.1487-6C>TUnknown
PLEKHG2ENSG00000090924ENST00000458508p.?c.1310-6C>TUnknown
LRFN1ENSG00000128011ENST00000248668p.?c.1262+9G>TUnknown
NCCRP1ENSG00000188505ENST00000339852p.?c.453-1G>AUnknown
ACTN4ENSG00000130402ENST00000252699p.Q887*c.2659C>TSubstitution - Nonsense
CAPN12ENSG00000182472ENST00000328867p.V681Mc.2041G>ASubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.P2146Pc.6438G>ASubstitution - coding silent
RYR1ENSG00000196218ENST00000359596p.R2575Cc.7723C>TSubstitution - Missense
HNRNPUL1ENSG00000105323ENST00000392006p.Q470Qc.1410G>ASubstitution - coding silent
ADCK4ENSG00000123815ENST00000324464p.T12fs*64c.33delGDeletion - Frameshift
PLD3ENSG00000105223ENST00000409587p.Y7Yc.21C>TSubstitution - coding silent
MYL7ENSG00000106631ENST00000223364p.S109Rc.325A>CSubstitution - Missense
ZNF75DENSG00000186376ENST00000370766p.I40fs*1c.118delADeletion - Frameshift
DBNLENSG00000136279ENST00000494774p.P309Tc.925C>ASubstitution - Missense
KBTBD2ENSG00000170852ENST00000304056p.S604fs*9c.1810_1811insTInsertion - Frameshift
AFF2ENSG00000155966ENST00000370460p.F311Ic.931T>ASubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.F311Ic.931T>ASubstitution - Missense
UBE2NLENSG00000102069ENST00000370494p.L59Ic.175C>ASubstitution - Missense
ATP11CENSG00000101974ENST00000327569p.?c.1215+7G>AUnknown
ATP11CENSG00000101974ENST00000361648p.?c.1215+7G>AUnknown
GPR112ENSG00000156920ENST00000394143p.T1348Rc.4043C>GSubstitution - Missense
GPR112ENSG00000156920ENST00000394143p.G1546Gc.4638T>CSubstitution - coding silent
SLC9A6ENSG00000198689ENST00000370695p.?c.604-7_608>11Unknown
SLC9A6ENSG00000198689ENST00000370698p.?c.508-7_512>11Unknown
SLC9A6ENSG00000198689ENST00000370695p.R206fs*58c.608_609insTInsertion - Frameshift
ENST00000428722p.Y36Yc.108C>TSubstitution - coding silent
HAUS7ENSG00000213397ENST00000370212p.D288Dc.864C>TSubstitution - coding silent
GPR50ENSG00000102195ENST00000218316p.I130Ic.390C>TSubstitution - coding silent
MAGEA8ENSG00000156009ENST00000535454p.Y10Yc.30C>TSubstitution - coding silent
PCDHA2ENSG00000204969ENST00000526136p.Q756*c.2266C>TSubstitution - Nonsense
PCDHA2ENSG00000204969ENST00000378132p.Q756*c.2266C>TSubstitution - Nonsense
WDR55ENSG00000120314ENST00000358337p.K341fs*16c.1015_1016delAADeletion - Frameshift
ENST00000230993_v65p.S947Sc.2841C>TSubstitution - coding silent
SLC4A9ENSG00000113073ENST00000506757p.S923Sc.2769C>TSubstitution - coding silent
TMEM173ENSG00000184584ENST00000330794p.R76Gc.226A>GSubstitution - Missense
KDM3BENSG00000120733ENST00000314358p.A1759Vc.5276C>TSubstitution - Missense
GFRA3ENSG00000146013ENST00000274721p.?c.472+1G>AUnknown
PKD2L2ENSG00000078795ENST00000290431p.K575fs*29c.1720delADeletion - Frameshift
DNAH5ENSG00000039139ENST00000265104p.?c.11570+5G>AUnknown
WNT8AENSG00000061492ENST00000398754p.K102Ec.304A>GSubstitution - Missense
PCDHB7ENSG00000113212ENST00000231137p.T316Kc.947C>ASubstitution - Missense
PCDHAC2ENSG00000243232ENST00000289269p.D357Dc.1071C>TSubstitution - coding silent
PCDHA13ENSG00000239389ENST00000289272p.L721Mc.2161C>ASubstitution - Missense
PCDHA7ENSG00000204963ENST00000525929p.E501Gc.1502A>GSubstitution - Missense
SLC6A7ENSG00000011083ENST00000230671p.Q278fs*82c.827delCDeletion - Frameshift
SLC6A7ENSG00000011083ENST00000230671p.A291Sc.871G>TSubstitution - Missense
PCDHB15ENSG00000113248ENST00000231173p.P651Lc.1952C>TSubstitution - Missense
ZNF292ENSG00000188994ENST00000339907p.N2209Sc.6626A>GSubstitution - Missense
GPATCH11ENSG00000152133ENST00000409774p.L67Lc.199C>TSubstitution - coding silent
LYZL6ENSG00000161572ENST00000293274p.L31Lc.91C>TSubstitution - coding silent
SLFN13ENSG00000154760ENST00000285013p.D360Dc.1080C>TSubstitution - coding silent
FNDC8ENSG00000073598ENST00000158009p.L118Pc.353T>CSubstitution - Missense
OR3A2ENSG00000221882ENST00000408891p.P292Hc.875C>ASubstitution - Missense
CDK5R1ENSG00000176749ENST00000313401p.V225Ic.673G>ASubstitution - Missense
SUZ12ENSG00000178691ENST00000322652p.G340Vc.1019G>TSubstitution - Missense
SUZ12ENSG00000178691ENST00000322652p.G518Rc.1552G>ASubstitution - Missense
STON1-GTF2A1LENSG00000068781ENST00000394754p.D243Gc.728A>GSubstitution - Missense
STON1ENSG00000243244ENST00000309835p.D243Gc.728A>GSubstitution - Missense
MSH6ENSG00000116062ENST00000234420p.F933Fc.2799T>CSubstitution - coding silent
SRBD1ENSG00000068784ENST00000263736p.?c.2333+3G>AUnknown
PLEKHH2ENSG00000152527ENST00000282406p.?c.2301+10_2301+18deltttttttttUnknown
SLC8A1ENSG00000183023ENST00000403092p.N599Nc.1797T>CSubstitution - coding silent
CYP1B1ENSG00000138061ENST00000260630p.P435Hc.1304C>ASubstitution - Missense
STAT3ENSG00000168610ENST00000264657p.P356Lc.1067C>TSubstitution - Missense
ACLYENSG00000131473ENST00000352035p.?c.2794-2_2794-1insGUnknown
KIF18BENSG00000186185ENST00000339151p.T705Ic.2114C>TSubstitution - Missense
UBTFENSG00000108312ENST00000302904p.?c.235-1G>AUnknown
IFI35ENSG00000068079ENST00000438323p.D242Dc.726T>CSubstitution - coding silent
WNK4ENSG00000126562ENST00000246914p.P979Sc.2935C>TSubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.P979Sc.2935C>TSubstitution - Missense
AKAP1ENSG00000121057ENST00000337714p.H730fs*70c.2182_2183delCADeletion - Frameshift
ANKFN1ENSG00000153930ENST00000318698p.K38Tc.113A>CSubstitution - Missense
KIF2BENSG00000141200ENST00000268919p.L466Lc.1396C>TSubstitution - coding silent
ZNF594ENSG00000180626ENST00000399604p.G245Gc.735G>ASubstitution - coding silent
WFIKKN2ENSG00000173714ENST00000311378p.P142Sc.424C>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000354983p.?c.4443+9G>AUnknown
ZNF599ENSG00000153896ENST00000329285p.D27Dc.81C>TSubstitution - coding silent
PPM1EENSG00000175175ENST00000308249p.P6Hc.17C>ASubstitution - Missense
BZRAP1ENSG00000005379ENST00000355701p.?c.750+8G>AUnknown
LPOENSG00000167419ENST00000262290p.P487fs*37c.1454delGDeletion - Frameshift
EPXENSG00000121053ENST00000225371p.R655Qc.1964G>ASubstitution - Missense
SRSF1ENSG00000136450ENST00000258962p.I42Nc.125T>ASubstitution - Missense
ZNF585BENSG00000245680ENST00000532828p.V719Mc.2155G>ASubstitution - Missense
ZNF529ENSG00000186020ENST00000334116p.E21Dc.63A>CSubstitution - Missense
ZNF382ENSG00000161298ENST00000292928p.N145fs*5c.430delADeletion - Frameshift
KIRREL2ENSG00000126259ENST00000262625p.V11Ic.31G>ASubstitution - Missense
HAUS5ENSG00000249115ENST00000203166p.R372Rc.1116G>ASubstitution - coding silent
MECOMENSG00000085276ENST00000264674p.T910Tc.2730A>CSubstitution - coding silent
WDR49ENSG00000174776ENST00000453925p.M415Vc.1243A>GSubstitution - Missense
PCDHGB2ENSG00000253910ENST00000522605p.A686Ac.2058A>GSubstitution - coding silent
PCDHGB2ENSG00000253910ENST00000522605p.L713Lc.2139G>ASubstitution - coding silent
FXR1ENSG00000114416ENST00000357559p.?c.1199-3A>GUnknown
NAALADL2ENSG00000177694ENST00000454872p.R489Qc.1466G>ASubstitution - Missense
TBC1D5ENSG00000131374ENST00000253692p.L24Lc.72G>ASubstitution - coding silent
NCEH1ENSG00000144959ENST00000538775p.R5Cc.13C>TSubstitution - Missense
GHSRENSG00000121853ENST00000241256p.R199Hc.596G>ASubstitution - Missense
TNIKENSG00000154310ENST00000436636p.Q263*c.787C>TSubstitution - Nonsense
TNIKENSG00000154310ENST00000436636p.G575Gc.1725A>GSubstitution - coding silent
LRRIQ4ENSG00000188306ENST00000340806p.D334Hc.1000G>CSubstitution - Missense
ACTRT3ENSG00000184378ENST00000330368p.L95Mc.283C>ASubstitution - Missense
ARAP3ENSG00000120318ENST00000239440p.P92fs*25c.275delCDeletion - Frameshift
DIAPH1ENSG00000131504ENST00000398557p.I194Ic.582T>ASubstitution - coding silent
PCDHGC5ENSG00000240764ENST00000252087p.P256Lc.767C>TSubstitution - Missense
PCDHGC5ENSG00000240764ENST00000252087p.P256Lc.767C>TSubstitution - Missense
PCDHGB4ENSG00000253953ENST00000519479p.R410Rc.1230C>TSubstitution - coding silent
PCDHGB3ENSG00000262209ENST00000576222p.P569Sc.1705C>TSubstitution - Missense
PCDHGB2ENSG00000253910ENST00000522605p.A686Ac.2058A>GSubstitution - coding silent
JAKMIP2ENSG00000176049ENST00000265272p.L121Fc.361C>TSubstitution - Missense
TRIOENSG00000038382ENST00000344204p.P1058Sc.3172C>TSubstitution - Missense
AK8ENSG00000165695ENST00000298545p.Q428*c.1282C>TSubstitution - Nonsense
TTF1ENSG00000125482ENST00000334270p.S297Sc.891A>GSubstitution - coding silent
APOBEC3GENSG00000239713ENST00000407997p.A121Dc.362C>ASubstitution - Missense
APOBEC3GENSG00000239713ENST00000407997p.A121Dc.362C>ASubstitution - Missense
PLA2G6ENSG00000184381ENST00000332509p.R115Cc.343C>TSubstitution - Missense
TRIOBPENSG00000100106ENST00000406386p.R1078fs*135c.3226delCDeletion - Frameshift
TRIOBPENSG00000100106ENST00000406386p.I1213Tc.3638T>CSubstitution - Missense
SH3BP1ENSG00000100092ENST00000357436p.T485Ac.1453A>GSubstitution - Missense
ENST00000349653p.R442Hc.1325G>ASubstitution - Missense
CARD10ENSG00000100065ENST00000403299p.A491Tc.1471G>ASubstitution - Missense
SSTR3ENSG00000183473ENST00000328544p.N104Nc.312C>TSubstitution - coding silent
FIG4ENSG00000112367ENST00000230124p.Q508Pc.1523A>CSubstitution - Missense
SESN1ENSG00000080546ENST00000436639p.R365fs*11c.1093_1094insAInsertion - Frameshift
ENST00000369020_v68p.R291Cc.871C>TSubstitution - Missense
ENST00000369020_v68p.A63Ac.189C>TSubstitution - coding silent
SCML4ENSG00000146285ENST00000369020p.A34Ac.102C>TSubstitution - coding silent
ATG5ENSG00000057663ENST00000343245p.R204Hc.611G>ASubstitution - Missense
ROS1ENSG00000047936ENST00000368507p.Q258Qc.774G>ASubstitution - coding silent
ADTRPENSG00000111863ENST00000414691p.?c.153+5G>AUnknown
RFX6ENSG00000185002ENST00000332958p.M266Tc.797T>CSubstitution - Missense
RFX6ENSG00000185002ENST00000332958p.E530Gc.1589A>GSubstitution - Missense
KPNA5ENSG00000196911ENST00000368564p.V518Mc.1552G>ASubstitution - Missense
FAM26DENSG00000164451ENST00000368596p.Y89Yc.267C>TSubstitution - coding silent
TSPYL4ENSG00000187189ENST00000420283p.L382Ic.1144C>ASubstitution - Missense
F13A1ENSG00000124491ENST00000264870p.G593Gc.1779C>TSubstitution - coding silent
ZNF451ENSG00000112200ENST00000370706p.P1003Lc.3008C>TSubstitution - Missense
ZNF451ENSG00000112200ENST00000357489p.P955Lc.2864C>TSubstitution - Missense
DSTENSG00000151914ENST00000370754p.Y146Hc.436T>CSubstitution - Missense
DSTENSG00000151914ENST00000370769p.G2513Ec.7538G>ASubstitution - Missense
DSTENSG00000151914ENST00000244364p.Q2380Rc.7139A>GSubstitution - Missense
DSTENSG00000151914ENST00000370769p.Q4794Rc.14381A>GSubstitution - Missense
DSTENSG00000151914ENST00000244364p.H3731Yc.11191C>TSubstitution - Missense
FARS2ENSG00000145982ENST00000324331p.A377Vc.1130C>TSubstitution - Missense
DSTENSG00000151914ENST00000370769p.R7295*c.21883C>TSubstitution - Nonsense
RIMS1ENSG00000079841ENST00000521978p.?c.3309-1G>AUnknown
NR4A3ENSG00000119508ENST00000330847p.L615Rc.1844T>GSubstitution - Missense
ANKS6ENSG00000165138ENST00000353234p.R237Qc.710G>ASubstitution - Missense
ACTL7BENSG00000148156ENST00000374667p.A2Ac.6G>ASubstitution - coding silent
IKBKAPENSG00000070061ENST00000374647p.A533Ac.1599A>GSubstitution - coding silent
ZNF462ENSG00000148143ENST00000277225p.A855Tc.2563G>ASubstitution - Missense
ZNF462ENSG00000148143ENST00000457913p.A855Tc.2563G>ASubstitution - Missense
FKTNENSG00000106692ENST00000223528p.?c.165+2T>CUnknown
OR13F1ENSG00000186881ENST00000334726p.M284fs*2c.850delADeletion - Frameshift
OR2A4ENSG00000180658ENST00000315453p.A200Vc.599C>TSubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.P1025Qc.3074C>ASubstitution - Missense
PTPRKENSG00000152894ENST00000368213p.C386fs*15c.1155_1156insAInsertion - Frameshift
HIVEP1ENSG00000095951ENST00000379388p.T346Ic.1037C>TSubstitution - Missense
TBC1D32ENSG00000146350ENST00000398212p.L932Sc.2795T>CSubstitution - Missense
SUSD1ENSG00000106868ENST00000374270p.?c.2244-9C>TUnknown
ZNF292ENSG00000188994ENST00000369577p.D1346fs*80c.4030delADeletion - Frameshift
KIAA1009ENSG00000135315ENST00000403245p.E555fs*16c.1662_1663insAInsertion - Frameshift
HTR1BENSG00000135312ENST00000369947p.V111Ic.331G>ASubstitution - Missense
FILIP1ENSG00000118407ENST00000237172p.L786Lc.2358T>CSubstitution - coding silent
TMEM30AENSG00000112697ENST00000230461p.G21fs*79c.62delGDeletion - Frameshift
DSPENSG00000096696ENST00000379802p.G2550Dc.7649G>ASubstitution - Missense
NOL7ENSG00000225921ENST00000451315p.?c.622+5deltUnknown
STX7ENSG00000079950ENST00000367941p.S81fs*13c.240delCDeletion - Frameshift
RAB11FIP4ENSG00000131242ENST00000325874p.V78fs*4c.227delGDeletion - Frameshift
OR1D2ENSG00000184166ENST00000331459p.T274Ic.821C>TSubstitution - Missense
NM_006495.2p.A98Tc.292G>ASubstitution - Missense
ENST00000331403p.R142Qc.425G>ASubstitution - Missense
BACH2ENSG00000112182ENST00000257749p.A324Gc.971C>GSubstitution - Missense
BACH2ENSG00000112182ENST00000257749p.F257Fc.771C>TSubstitution - coding silent
MDN1ENSG00000112159ENST00000369393p.?c.8427+6C>AUnknown
MDN1ENSG00000112159ENST00000369393p.H3419Hc.10257C>TSubstitution - coding silent
ZNF292ENSG00000188994ENST00000369577p.N2354Sc.7061A>GSubstitution - Missense
IGSF11ENSG00000144847ENST00000393775p.Q197Rc.590A>GSubstitution - Missense
IGSF11ENSG00000144847ENST00000354673p.Q196Rc.587A>GSubstitution - Missense
NUP210ENSG00000132182ENST00000254508p.P1080fs*4c.3239delCDeletion - Frameshift
AMOTL2ENSG00000114019ENST00000249883p.L331Lc.991C>TSubstitution - coding silent
SLCO2A1ENSG00000174640ENST00000310926p.P457Pc.1371G>ASubstitution - coding silent
TFENSG00000091513ENST00000402696p.E160Ec.480G>ASubstitution - coding silent
EAF2ENSG00000145088ENST00000273668p.K81fs*4c.237delADeletion - Frameshift
EAF2ENSG00000145088ENST00000273668p.S252Nc.755G>ASubstitution - Missense
ILDR1ENSG00000145103ENST00000344209p.G141*c.421G>TSubstitution - Nonsense
GOLGB1ENSG00000173230ENST00000340645p.K1534fs*36c.4601_4602delAADeletion - Frameshift
ENST00000319822p.P234Hc.701C>ASubstitution - Missense
XRN1ENSG00000114127ENST00000264951p.L1105Vc.3313C>GSubstitution - Missense
XRN1ENSG00000114127ENST00000264951p.T235fs*25c.703_704insAInsertion - Frameshift
NM_001184p.I2376Vc.7126A>GSubstitution - Missense
XRN1ENSG00000114127ENST00000264951p.F1618_Q1627>AKF*c.4852_4879>13Complex - deletion inframe
RASA2ENSG00000155903ENST00000286364p.C726Cc.2178C>TSubstitution - coding silent
RASA2ENSG00000155903ENST00000286364p.C726Cc.2178C>TSubstitution - coding silent
DCHS2ENSG00000197410ENST00000357232p.F424Lc.1270T>CSubstitution - Missense
FBXW7ENSG00000109670ENST00000281708p.L152Lc.456G>ASubstitution - coding silent
FREM3ENSG00000183090ENST00000329798p.R172Hc.515G>ASubstitution - Missense
FREM3ENSG00000183090ENST00000329798p.E1205Ec.3615G>ASubstitution - coding silent
XM_371709.3p.R201Qc.602G>ASubstitution - Missense
RNF150ENSG00000170153ENST00000420921p.R151Qc.452G>ASubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.?c.9076-8C>AUnknown
FAT1ENSG00000083857ENST00000441802p.?c.9076-8C>AUnknown
SORBS2ENSG00000154556ENST00000284776p.E1044fs*>57c.3130delGDeletion - Frameshift
SORBS2ENSG00000154556ENST00000437304p.E768fs*>57c.2302delGDeletion - Frameshift
GUCY1A3ENSG00000164116ENST00000296518p.?c.1716+10A>GUnknown
TBC1D19ENSG00000109680ENST00000264866p.?c.1507-1G>AUnknown
SLC34A2ENSG00000157765ENST00000382051p.S497Sc.1491C>TSubstitution - coding silent
SEPSECSENSG00000109618ENST00000382103p.?c.389-4G>AUnknown
PI4K2BENSG00000038210ENST00000264864p.S479fs*>3c.1429delTDeletion - Frameshift
HAUS3ENSG00000214367ENST00000243706p.K220fs*10c.660delADeletion - Frameshift
TGFBIENSG00000120708ENST00000442011p.P501fs*9c.1496delCDeletion - Frameshift
DDX46ENSG00000145833ENST00000354283p.K241fs*4c.717delADeletion - Frameshift
LEAP2ENSG00000164406ENST00000296877p.M1Ic.3G>ASubstitution - Missense
CHSY3ENSG00000198108ENST00000305031p.D540Vc.1619A>TSubstitution - Missense
SNCAIPENSG00000064692ENST00000261368p.G730fs*30c.2185delGDeletion - Frameshift
SNCAIPENSG00000064692ENST00000379533p.G777fs*30c.2326delGDeletion - Frameshift
GPR98ENSG00000164199ENST00000405460p.T1776Ic.5327C>TSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.T2299Ac.6895A>GSubstitution - Missense
VCANENSG00000038427ENST00000265077p.E3125Ec.9375A>GSubstitution - coding silent
TMEM167AENSG00000174695ENST00000502346p.?c.113+9C>TUnknown
FAM151BENSG00000152380ENST00000282226p.N14fs*7c.38delADeletion - Frameshift
TRPC7ENSG00000069018ENST00000513104p.P129Pc.387G>ASubstitution - coding silent
TRPC7ENSG00000069018ENST00000513104p.P129Pc.387G>ASubstitution - coding silent
TRPC7ENSG00000069018ENST00000513104p.V507Mc.1519G>ASubstitution - Missense
TRPC7ENSG00000069018ENST00000513104p.V507Mc.1519G>ASubstitution - Missense
SRPX2ENSG00000102359ENST00000373004p.R391Cc.1171C>TSubstitution - Missense
NAP1L3ENSG00000186310ENST00000373079p.E159Ec.477A>GSubstitution - coding silent
FAM9AENSG00000183304ENST00000381003p.?c.91+7G>AUnknown
NM_021998.2p.Q579fs*5c.1731_1732insCInsertion - Frameshift
ASCC3ENSG00000112249ENST00000369162p.H723Yc.2167C>TSubstitution - Missense
SIM1ENSG00000112246ENST00000262901p.G448Sc.1342G>ASubstitution - Missense
ATP9BENSG00000166377ENST00000307671p.R645Kc.1934G>ASubstitution - Missense
LRRC30ENSG00000206422ENST00000383467p.R95Qc.284G>ASubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.D1100fs*67c.3298delGDeletion - Frameshift
LAMA1ENSG00000101680ENST00000389658p.L2766Fc.8296C>TSubstitution - Missense
RTTNENSG00000176225ENST00000255674p.P179Hc.536C>ASubstitution - Missense
DSELENSG00000171451ENST00000310045p.L794Sc.2381T>CSubstitution - Missense
CSF2RBENSG00000100368ENST00000403662p.L494Ic.1480C>ASubstitution - Missense
VAPAENSG00000101558ENST00000340541p.S259Sc.777A>GSubstitution - coding silent
COL5A3ENSG00000080573ENST00000264828p.P1294Qc.3881C>ASubstitution - Missense
PTPRMENSG00000173482ENST00000332175p.R631*c.1891C>TSubstitution - Nonsense
POM121ENSG00000196313ENST00000257622p.G727Dc.2180G>ASubstitution - Missense
RSPH10B2ENSG00000169402ENST00000297186p.G134Sc.400G>ASubstitution - Missense
GRID2IPENSG00000215045ENST00000457091p.R693Wc.2077C>TSubstitution - Missense
ADAMTSL1ENSG00000178031ENST00000380566p.?c.834+7C>TUnknown
CCDC171ENSG00000164989ENST00000380701p.L838Lc.2512T>CSubstitution - coding silent
NFIBENSG00000147862ENST00000397581p.T544Tc.1632A>GSubstitution - coding silent
ENST00000298728p.R581Cc.1741C>TSubstitution - Missense
PNPLA7ENSG00000130653ENST00000277531p.P175Hc.524C>ASubstitution - Missense
ALAS2ENSG00000158578ENST00000330807p.D159Vc.476A>TSubstitution - Missense
ALAS2ENSG00000158578ENST00000396198p.D146Vc.437A>TSubstitution - Missense
NM_000032.1p.D159Vc.476A>TSubstitution - Missense
FOCADENSG00000188352ENST00000380249p.?c.4638+3G>AUnknown
RRAGAENSG00000155876ENST00000380527p.V213Fc.637G>TSubstitution - Missense
ADAMTSL1ENSG00000178031ENST00000380548p.?c.2218-6C>TUnknown
SLC16A2ENSG00000147100ENST00000276033p.A250Tc.748G>ASubstitution - Missense
HDAC8ENSG00000147099ENST00000373561p.P256Lc.767C>TSubstitution - Missense
SLC7A3ENSG00000165349ENST00000374299p.S133Nc.398G>ASubstitution - Missense
AMER1ENSG00000184675ENST00000330258p.A886Ac.2658T>CSubstitution - coding silent
ZXDAENSG00000198205ENST00000358697p.E416Ec.1248A>GSubstitution - coding silent
MAP1SENSG00000130479ENST00000324096p.K1056Kc.3168G>ASubstitution - coding silent
NM_000052.2p.L586Lc.1758C>TSubstitution - coding silent
ATRXENSG00000085224ENST00000373344p.E886fs*10c.2658_2659delGADeletion - Frameshift
MKNK2ENSG00000099875ENST00000309340p.V82Ic.244G>ASubstitution - Missense
ATP13A1ENSG00000105726ENST00000357324p.V757Mc.2269G>ASubstitution - Missense
ATP13A1ENSG00000105726ENST00000357324p.S279Sc.837G>ASubstitution - coding silent
TSSK6ENSG00000178093ENST00000360913p.M210Ic.630G>ASubstitution - Missense
ARMC6ENSG00000105676ENST00000269932p.S39Lc.116C>TSubstitution - Missense
DDX49ENSG00000105671ENST00000247003p.R130Hc.389G>ASubstitution - Missense
SSBP4ENSG00000130511ENST00000270061p.D92Yc.274G>TSubstitution - Missense
TNFAIP8L1ENSG00000185361ENST00000327473p.A45Vc.134C>TSubstitution - Missense
FBXO46ENSG00000177051ENST00000317683p.G540Gc.1620C>TSubstitution - coding silent
RELBENSG00000104856ENST00000221452p.S89Sc.267C>ASubstitution - coding silent
ENST00000396750p.A360Vc.1079C>TSubstitution - Missense
ENST00000396750_v65p.A360Vc.1079C>TSubstitution - Missense
ZNF85ENSG00000105750ENST00000328178p.H109Yc.325C>TSubstitution - Missense
TULP2ENSG00000104804ENST00000221399p.L334Ic.1000C>ASubstitution - Missense
MAMSTRENSG00000176909ENST00000318083p.H163fs*9c.477_478insCInsertion - Frameshift
MAMSTRENSG00000176909ENST00000356751p.H60fs*9c.168_169insCInsertion - Frameshift
MAMSTRENSG00000176909ENST00000318083p.S121Sc.363C>TSubstitution - coding silent
CYTH2ENSG00000105443ENST00000452733p.?c.548-5T>CUnknown
SULT2A1ENSG00000105398ENST00000222002p.E185Dc.555G>TSubstitution - Missense
TICAM1ENSG00000127666ENST00000248244p.A601Ac.1803G>TSubstitution - coding silent
NAPAENSG00000105402ENST00000263354p.A91Tc.271G>ASubstitution - Missense
NPAS1ENSG00000130751ENST00000449844p.A280Vc.839C>TSubstitution - Missense
ITGALENSG00000005844ENST00000356798p.T77Sc.229A>TSubstitution - Missense
NFATC2IPENSG00000176953ENST00000320805p.?c.659+1G>AUnknown
ATP2A1ENSG00000196296ENST00000357084p.K572fs*9c.1712_1713insCInsertion - Frameshift
SH2B1ENSG00000178188ENST00000322610p.G238fs*3c.709delGDeletion - Frameshift
SH2B1ENSG00000178188ENST00000337120p.G238fs*3c.709delGDeletion - Frameshift
KIAA0556ENSG00000047578ENST00000261588p.N634Nc.1902C>TSubstitution - coding silent
RAB6CENSG00000222014ENST00000410061p.R115Sc.345A>TSubstitution - Missense
BCL7CENSG00000099385ENST00000215115p.L207fs*10c.610_611insCInsertion - Frameshift
ZNF629ENSG00000102870ENST00000262525p.P833Lc.2498C>TSubstitution - Missense
ZNF747ENSG00000169955ENST00000252799p.A57Ac.171G>ASubstitution - coding silent
ZNF688ENSG00000229809ENST00000395219p.E102*c.304G>TSubstitution - Nonsense
BTLAENSG00000186265ENST00000334529p.L164Lc.492G>ASubstitution - coding silent
SLC6A1ENSG00000157103ENST00000287766p.L113fs*94c.336_337insGInsertion - Frameshift
ENSG00000206532ENST00000383686p.E158Dc.474G>TSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.T2119Mc.6356C>TSubstitution - Missense
NDUFB4ENSG00000065518ENST00000485064p.?c.180+7G>AUnknown
POPDC2ENSG00000121577ENST00000264231p.L66Lc.196C>TSubstitution - coding silent
IGSF11ENSG00000144847ENST00000354673p.L74Mc.220C>ASubstitution - Missense
ARHGAP31ENSG00000031081ENST00000264245p.P429Qc.1286C>ASubstitution - Missense
IGSF11ENSG00000144847ENST00000354673p.P354Qc.1061C>ASubstitution - Missense
FBXO48ENSG00000204923ENST00000377957p.P133Sc.397C>TSubstitution - Missense
SERTAD2ENSG00000179833ENST00000313349p.K61Ec.181A>GSubstitution - Missense
PELI1ENSG00000197329ENST00000358912p.P292Sc.874C>TSubstitution - Missense
UGP2ENSG00000169764ENST00000337130p.I174fs*10c.514delADeletion - Frameshift
IFT122ENSG00000163913ENST00000296266p.E1198Ec.3594G>ASubstitution - coding silent
CAND2ENSG00000144712ENST00000295989p.S1107Sc.3321C>TSubstitution - coding silent
KBTBD12ENSG00000187715ENST00000405109p.L156Ic.466T>ASubstitution - Missense
MCM2ENSG00000073111ENST00000265056p.T457Tc.1371C>TSubstitution - coding silent
UROC1ENSG00000159650ENST00000383579p.A626Ac.1878C>TSubstitution - coding silent
MOV10L1ENSG00000073146ENST00000262794p.C1174Cc.3522C>TSubstitution - coding silent
PANX2ENSG00000073150ENST00000395842p.N163Ic.488A>TSubstitution - Missense
ALG12ENSG00000182858ENST00000330817p.L58Lc.174T>CSubstitution - coding silent
ATXN10ENSG00000130638ENST00000252934p.R89Cc.265C>TSubstitution - Missense
PARVGENSG00000138964ENST00000422871p.E61Kc.181G>ASubstitution - Missense
MCATENSG00000100294ENST00000290429p.R390Ic.1169G>TSubstitution - Missense
SCUBE1ENSG00000159307ENST00000360835p.N813fs*11c.2431_2432insCInsertion - Frameshift
TCF20ENSG00000100207ENST00000359486p.Q310Kc.928C>ASubstitution - Missense
NFAM1ENSG00000235568ENST00000329021p.R192Qc.575G>ASubstitution - Missense
LARS2ENSG00000011376ENST00000265537p.Q240*c.718C>TSubstitution - Nonsense
EXOSC7ENSG00000075914ENST00000265564p.L160Lc.480C>TSubstitution - coding silent
SNRKENSG00000163788ENST00000454177p.A483Ac.1449G>ASubstitution - coding silent
ENST00000329492_v62p.A550Ac.1650G>ASubstitution - coding silent
SCO2ENSG00000130489ENST00000543927p.R95Cc.283C>TSubstitution - Missense
SCO2ENSG00000130489ENST00000395693p.R95Cc.283C>TSubstitution - Missense
NCAPH2ENSG00000025770ENST00000299821p.?c.1000+9G>AUnknown
DENND6BENSG00000205593ENST00000413817p.R215Cc.643C>TSubstitution - Missense
PPP6R2ENSG00000100239ENST00000359139p.L784Lc.2352G>ASubstitution - coding silent
CELSR3ENSG00000008300ENST00000164024p.P3158Lc.9473C>TSubstitution - Missense
PLXNB1ENSG00000164050ENST00000296440p.R516Kc.1547G>ASubstitution - Missense
KLHL18ENSG00000114648ENST00000232766p.R513Hc.1538G>ASubstitution - Missense
PTPN23ENSG00000076201ENST00000265562p.R567Wc.1699C>TSubstitution - Missense
SETD2ENSG00000181555ENST00000409792p.R1407fs*5c.4219delADeletion - Frameshift
SETD2ENSG00000181555ENST00000330022p.R904fs*5c.2710delADeletion - Frameshift
FYCO1ENSG00000163820ENST00000296137p.E323Dc.969G>TSubstitution - Missense
CCR1ENSG00000163823ENST00000296140p.H189Hc.567C>TSubstitution - coding silent
POLKENSG00000122008ENST00000241436p.H105Yc.313C>TSubstitution - Missense
POC5ENSG00000152359ENST00000428202p.K572Ic.1715A>TSubstitution - Missense
ANKRD31ENSG00000145700ENST00000274361p.T423Ic.1268C>TSubstitution - Missense
GTF2H2CENSG00000183474ENST00000380729p.M153Ic.459G>ASubstitution - Missense
RAD17ENSG00000152942ENST00000361732p.D418Dc.1254T>CSubstitution - coding silent
PI16ENSG00000164530ENST00000373674p.L349Lc.1047C>TSubstitution - coding silent
TMEM217ENSG00000172738ENST00000356757p.*212Rc.634T>CNonstop extension
CPNE5ENSG00000124772ENST00000244751p.V536Mc.1606G>ASubstitution - Missense
PNPLA1ENSG00000180316ENST00000388715p.A260Sc.778G>TSubstitution - Missense
BHMTENSG00000145692ENST00000274353p.D81Dc.243C>TSubstitution - coding silent
BHMTENSG00000145692ENST00000274353p.V275Ac.824T>CSubstitution - Missense
CUL7ENSG00000044090ENST00000265348p.S870Sc.2610C>TSubstitution - coding silent
GNMTENSG00000124713ENST00000372808p.Q226Hc.678G>TSubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.M3720Ic.11160G>ASubstitution - Missense
NM_001371.1p.E1753Dc.5259G>CSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.T4622Tc.13866A>GSubstitution - coding silent
MUC17ENSG00000169876ENST00000306151p.E803Kc.2407G>ASubstitution - Missense
ACHEENSG00000087085ENST00000302913p.Q310Lc.929A>TSubstitution - Missense
ACHEENSG00000087085ENST00000412389p.Q310Lc.929A>TSubstitution - Missense
EPHB4ENSG00000196411ENST00000358173p.I610Tc.1829T>CSubstitution - Missense
ZNF736ENSG00000234444ENST00000355095p.Y130Cc.389A>GSubstitution - Missense
USP42ENSG00000106346ENST00000306177p.S11Sc.33A>GSubstitution - coding silent
XM_374396.2p.?c.485-2A>GUnknown
RELNENSG00000189056ENST00000343529p.M1771fs*58c.5313delGDeletion - Frameshift
RELNENSG00000189056ENST00000343529p.?c.9984-9G>CUnknown
PSMC2ENSG00000161057ENST00000292644p.S106Sc.318G>ASubstitution - coding silent
FBXL13ENSG00000161040ENST00000436908p.S380Lc.1139C>TSubstitution - Missense
NAPEPLDENSG00000161048ENST00000341533p.A348Ac.1044C>TSubstitution - coding silent
CUX1ENSG00000257923ENST00000292535p.Y757Yc.2271C>TSubstitution - coding silent
MAGI2ENSG00000187391ENST00000354212p.G873Rc.2617G>ASubstitution - Missense
FGL2ENSG00000127951ENST00000248598p.T65fs*27c.189_190insCInsertion - Frameshift
F8ENSG00000185010ENST00000360256p.Y683Yc.2049T>CSubstitution - coding silent
CTAG2ENSG00000126890ENST00000247306p.H209Yc.625C>TSubstitution - Missense
TKTL1ENSG00000007350ENST00000369915p.V393Lc.1177G>TSubstitution - Missense
ZNF804BENSG00000182348ENST00000333190p.S987fs*2c.2959_2960insAInsertion - Frameshift
SEMA3EENSG00000170381ENST00000307792p.Y751Hc.2251T>CSubstitution - Missense
FTHL17ENSG00000132446ENST00000359202p.R44Qc.131G>ASubstitution - Missense
ARSDENSG00000006756ENST00000381154p.G249Rc.745G>ASubstitution - Missense
NHSENSG00000188158ENST00000380060p.T952Tc.2856A>GSubstitution - coding silent
NHSENSG00000188158ENST00000398097p.T796Tc.2388A>GSubstitution - coding silent
MAGEB17ENSG00000182798ENST00000329538p.V246fs*35c.733_734insTInsertion - Frameshift
DDX18ENSG00000088205ENST00000263239p.T466Ac.1396A>GSubstitution - Missense
FOXD4L1ENSG00000184492ENST00000306507p.E42Dc.126G>CSubstitution - Missense
PSD4ENSG00000125637ENST00000245796p.Q12fs*125c.30delCDeletion - Frameshift
PQLC3ENSG00000162976ENST00000295083p.?c.297-10A>GUnknown
DMDENSG00000198947ENST00000357033p.A1010Ac.3030G>ASubstitution - coding silent
DMDENSG00000198947ENST00000378677p.A1006Ac.3018G>ASubstitution - coding silent
DMDENSG00000198947ENST00000357033p.?c.6912+7C>TUnknown
DMDENSG00000198947ENST00000378677p.?c.6900+7C>TUnknown
DMDENSG00000198947ENST00000378677p.?c.6900+7C>TUnknown
ENST00000378682p.D1085Yc.3253G>TSubstitution - Missense
TAB3ENSG00000157625ENST00000378933p.Q705Qc.2115G>ASubstitution - coding silent
ZNF142ENSG00000115568ENST00000411696p.A520Pc.1558G>CSubstitution - Missense
ENST00000396788p.R660Wc.1978C>TSubstitution - Missense
TRIB2ENSG00000071575ENST00000155926p.I288Ic.864T>CSubstitution - coding silent
UGGT1ENSG00000136731ENST00000259253p.D92Dc.276C>TSubstitution - coding silent
PROCENSG00000115718ENST00000234071p.P186Hc.557C>ASubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.N936Nc.2808T>CSubstitution - coding silent
TMEM177ENSG00000144120ENST00000272521p.S23Fc.68C>TSubstitution - Missense
LPIN1ENSG00000134324ENST00000256720p.L827Mc.2479C>ASubstitution - Missense
FAM124BENSG00000124019ENST00000243806p.L219Lc.657A>GSubstitution - coding silent
ACSL3ENSG00000123983ENST00000357430p.?c.805+2T>CUnknown
ACSL3ENSG00000123983ENST00000357430p.?c.805+2T>CUnknown
SLC4A3ENSG00000114923ENST00000273063p.I961Vc.2881A>GSubstitution - Missense
INHAENSG00000123999ENST00000243786p.P243Pc.729C>TSubstitution - coding silent
ATG9AENSG00000198925ENST00000396761p.C764Fc.2291G>TSubstitution - Missense
TTLL4ENSG00000135912ENST00000392102p.R525Cc.1573C>TSubstitution - Missense
ZNF142ENSG00000115568ENST00000411696p.T582Ac.1744A>GSubstitution - Missense
ENST00000396788p.T419Ac.1255A>GSubstitution - Missense
PSMD1ENSG00000173692ENST00000308696p.V31Ic.91G>ASubstitution - Missense
SLC16A14ENSG00000163053ENST00000295190p.L414Lc.1240C>TSubstitution - coding silent
COL4A3ENSG00000169031ENST00000396578p.D1120Nc.3358G>ASubstitution - Missense
IQCA1ENSG00000132321ENST00000409907p.R219Qc.656G>ASubstitution - Missense
AGAP1ENSG00000157985ENST00000304032p.Q592*c.1774C>TSubstitution - Nonsense
ARL4CENSG00000188042ENST00000390645p.G165Dc.494G>ASubstitution - Missense
UGT1A5ENSG00000240224ENST00000373414p.?c.512_867+5472del5828Unknown
UGT1A4ENSG00000244474ENST00000373409p.?c.1_510del510Unknown
DGKDENSG00000077044ENST00000264057p.V274Vc.822T>CSubstitution - coding silent
CHRNGENSG00000196811ENST00000389494p.P7Ac.19C>GSubstitution - Missense
USP34ENSG00000115464ENST00000398571p.N2828Kc.8484C>ASubstitution - Missense
RELENSG00000162924ENST00000295025p.T324Pc.970A>CSubstitution - Missense
PAPOLGENSG00000115421ENST00000238714p.T602fs*8c.1798delCDeletion - Frameshift
SMEK2ENSG00000138041ENST00000345102p.S460fs*2c.1372_1373insAInsertion - Frameshift
SPTBN1ENSG00000115306ENST00000356805p.R2043*c.6127C>TSubstitution - Nonsense
SPTBN1ENSG00000115306ENST00000333896p.R2030*c.6088C>TSubstitution - Nonsense
KLHL30ENSG00000168427ENST00000409223p.?c.994+1G>AUnknown
KLHL30ENSG00000168427ENST00000409223p.?c.994+1G>AUnknown
MLPHENSG00000115648ENST00000264605p.K187Kc.561G>ASubstitution - coding silent
KALRNENSG00000160145ENST00000240874p.A467Vc.1400C>TSubstitution - Missense
NM_053025p.D1703Nc.5107G>ASubstitution - Missense
ENST00000310276p.E149Vc.446A>TSubstitution - Missense
ASPRV1ENSG00000244617ENST00000320256p.L319Lc.955C>TSubstitution - coding silent
PNO1ENSG00000115946ENST00000263657p.H210Rc.629A>GSubstitution - Missense
ZIC1ENSG00000152977ENST00000282928p.M217Ic.651G>ASubstitution - Missense
PLSCR5ENSG00000231213ENST00000443512p.W144*c.432G>ASubstitution - Nonsense
SLC6A6ENSG00000131389ENST00000360861p.L608Fc.1822C>TSubstitution - Missense
ELMOD3ENSG00000115459ENST00000315658p.P232Lc.695C>TSubstitution - Missense
ELMOD3ENSG00000115459ENST00000409890p.P232Lc.695C>TSubstitution - Missense
SEMA4FENSG00000135622ENST00000357877p.V452Mc.1354G>ASubstitution - Missense
VEPH1ENSG00000197415ENST00000392832p.K448Kc.1344A>GSubstitution - coding silent
PLCH1ENSG00000114805ENST00000334686p.R882Hc.2645G>ASubstitution - Missense
PLCH1ENSG00000114805ENST00000447496p.R920Hc.2759G>ASubstitution - Missense
METTL6ENSG00000206562ENST00000383790p.G279Cc.835G>TSubstitution - Missense
ZFYVE20ENSG00000131381ENST00000253699p.G555Sc.1663G>ASubstitution - Missense
RNF13ENSG00000082996ENST00000392894p.N346Ic.1037A>TSubstitution - Missense
SEC24DENSG00000150961ENST00000280551p.R157*c.469C>TSubstitution - Nonsense
NDST4ENSG00000138653ENST00000264363p.K209fs*27c.624delCDeletion - Frameshift
C4orf21ENSG00000138658ENST00000505019p.S261Sc.783C>TSubstitution - coding silent
PITX2ENSG00000164093ENST00000354925p.A180Ac.540C>TSubstitution - coding silent
EGFENSG00000138798ENST00000265171p.T368Ac.1102A>GSubstitution - Missense
TRIM59ENSG00000213186ENST00000309784p.L238Lc.712C>TSubstitution - coding silent
PPM1LENSG00000163590ENST00000498165p.T119Mc.356C>TSubstitution - Missense
BOD1L1ENSG00000038219ENST00000040738p.D1036Dc.3108C>TSubstitution - coding silent
BOD1L1ENSG00000038219ENST00000040738p.T209Ic.626C>TSubstitution - Missense
LARP1BENSG00000138709ENST00000354456p.R273*c.817C>TSubstitution - Nonsense
ENST00000330166p.Y1215Cc.3644A>GSubstitution - Missense
ANKRD50ENSG00000151458ENST00000504087p.D417Nc.1249G>ASubstitution - Missense
PDE5AENSG00000138735ENST00000354960p.?c.1396+2T>CUnknown
PDE5AENSG00000138735ENST00000264805p.?c.1270+2T>CUnknown
PDE5AENSG00000138735ENST00000354960p.L236Fc.706C>TSubstitution - Missense
PDE5AENSG00000138735ENST00000264805p.L194Fc.580C>TSubstitution - Missense
CDH18ENSG00000145526ENST00000507958p.C591Yc.1772G>ASubstitution - Missense
OR2V2ENSG00000182613ENST00000328275p.P284Lc.851C>TSubstitution - Missense
TXLNBENSG00000164440ENST00000358430p.Q251fs*16c.749_750insCInsertion - Frameshift
MCUR1ENSG00000050393ENST00000379170p.K229fs*3c.686delADeletion - Frameshift
RXFP3ENSG00000182631ENST00000330120p.Y460Yc.1380C>TSubstitution - coding silent
CDH9ENSG00000113100ENST00000231021p.A183Tc.547G>ASubstitution - Missense
ADGBENSG00000118492ENST00000397944p.P1114Sc.3340C>TSubstitution - Missense
GRM1ENSG00000152822ENST00000282753p.L277Ic.829C>ASubstitution - Missense
GRM1ENSG00000152822ENST00000392299p.L277Ic.829C>ASubstitution - Missense
LTV1ENSG00000135521ENST00000367576p.?c.539+8T>CUnknown
HIVEP2ENSG00000010818ENST00000012134p.R209Kc.626G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.R4479Cc.13435C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.R4408Cc.13222C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.R7999*c.23995C>TSubstitution - Nonsense
MYLIPENSG00000007944ENST00000356840p.R290Sc.868C>ASubstitution - Missense
NM_001453.1p.P73Hc.218C>ASubstitution - Missense
PNLDC1ENSG00000146453ENST00000275275p.?c.1081+5G>TUnknown
SYNJ2ENSG00000078269ENST00000449859p.R474Wc.1420C>TSubstitution - Missense
SYNJ2ENSG00000078269ENST00000355585p.A1072Vc.3215C>TSubstitution - Missense
TIAM2ENSG00000146426ENST00000318981p.L1649Sc.4946T>CSubstitution - Missense
TIAM2ENSG00000146426ENST00000318981p.T387Mc.1160C>TSubstitution - Missense
KLHL7ENSG00000122550ENST00000339077p.A105Vc.314C>TSubstitution - Missense
KLHL7ENSG00000122550ENST00000322231p.A83Vc.248C>TSubstitution - Missense
KLHL7ENSG00000122550ENST00000322231p.V310Mc.928G>ASubstitution - Missense
FAM188BENSG00000106125ENST00000265299p.?c.2225+10G>AUnknown
INMTENSG00000241644ENST00000013222p.R258Rc.774C>TSubstitution - coding silent
HIBADHENSG00000106049ENST00000265395p.Y310Yc.930C>TSubstitution - coding silent
OSBPL3ENSG00000070882ENST00000313367p.G56Ec.167G>ASubstitution - Missense
C7orf31ENSG00000153790ENST00000283905p.I207Nc.620T>ASubstitution - Missense
EIF3BENSG00000106263ENST00000397011p.I504Nc.1511T>ASubstitution - Missense
CHST12ENSG00000136213ENST00000258711p.V127Mc.379G>ASubstitution - Missense
TRA2AENSG00000164548ENST00000297071p.L185Lc.555G>ASubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.K5063fs*2c.15188delADeletion - Frameshift
PCLOENSG00000186472ENST00000333891p.K5063fs*2c.15188delADeletion - Frameshift
SEMA3CENSG00000075223ENST00000544525p.K627Rc.1880A>GSubstitution - Missense
MAGI2ENSG00000187391ENST00000354212p.E46fs*2c.136delGDeletion - Frameshift
KDM5CENSG00000126012ENST00000375401p.P1223Lc.3668C>TSubstitution - Missense
MAGED1ENSG00000179222ENST00000375695p.R306Cc.916C>TSubstitution - Missense
SSX7ENSG00000187754ENST00000298181p.?c.280+5G>AUnknown
CACNA1FENSG00000102001ENST00000376265p.I743Tc.2228T>CSubstitution - Missense
GRIPAP1ENSG00000068400ENST00000376441p.L743fs*35c.2227delCDeletion - Frameshift
ZNF264ENSG00000083844ENST00000263095p.L585Ic.1753C>ASubstitution - Missense
ENST00000342088p.S509Sc.1527C>TSubstitution - coding silent
NLRP4ENSG00000160505ENST00000301295p.C132Yc.395G>ASubstitution - Missense
ZNF584ENSG00000171574ENST00000306910p.T321Ic.962C>TSubstitution - Missense
ZNF274ENSG00000171606ENST00000326804p.I467fs*7c.1394_1395insAInsertion - Frameshift
ZNF274ENSG00000171606ENST00000345813p.I435fs*7c.1298_1299insAInsertion - Frameshift
ZSCAN18ENSG00000121413ENST00000433686p.R68Rc.204G>ASubstitution - coding silent
FUT3ENSG00000171124ENST00000303225p.S44Fc.131C>TSubstitution - Missense
ZNF417ENSG00000173480ENST00000312026p.S213Ic.638G>TSubstitution - Missense
ZNF587ENSG00000198466ENST00000339656p.T291Ic.872C>TSubstitution - Missense
ZNF530ENSG00000183647ENST00000332854p.R342Kc.1025G>ASubstitution - Missense
CASKIN2ENSG00000177303ENST00000321617p.A491Ac.1473G>ASubstitution - coding silent
C17orf74ENSG00000184560ENST00000333870p.R200Cc.598C>TSubstitution - Missense
ACAP1ENSG00000072818ENST00000158762p.P72Lc.215C>TSubstitution - Missense
GPR142ENSG00000257008ENST00000335666p.L251Lc.753G>ASubstitution - coding silent
ENST00000316893p.Y1761Yc.5283C>TSubstitution - coding silent
ALOX12ENSG00000108839ENST00000251535p.H392fs*27c.1170delCDeletion - Frameshift
ABCA10ENSG00000154263ENST00000269081p.L1504Lc.4512C>TSubstitution - coding silent
NOL10ENSG00000115761ENST00000345985p.I255fs*10c.758_759insAInsertion - Frameshift
NCK2ENSG00000071051ENST00000233154p.A45Tc.133G>ASubstitution - Missense
NCK2ENSG00000071051ENST00000233154p.A45Tc.133G>ASubstitution - Missense
SLC9A2ENSG00000115616ENST00000233969p.R641*c.1921C>TSubstitution - Nonsense
IL1RL2ENSG00000115598ENST00000264257p.I408Ic.1224C>TSubstitution - coding silent
LONRF2ENSG00000170500ENST00000393437p.A665Ec.1994C>ASubstitution - Missense
LLGL2ENSG00000073350ENST00000392550p.R642Rc.1926C>TSubstitution - coding silent
CLASP2ENSG00000163539ENST00000333778p.L172Lc.516G>ASubstitution - coding silent
PDCD6IPENSG00000170248ENST00000307296p.A825Ac.2475G>ASubstitution - coding silent
GLB1ENSG00000170266ENST00000307363p.A387Sc.1159G>TSubstitution - Missense
CRTAPENSG00000170275ENST00000320954p.A194Ac.582C>TSubstitution - coding silent
SUSD5ENSG00000173705ENST00000309558p.V351Mc.1051G>ASubstitution - Missense
WDR48ENSG00000114742ENST00000302313p.?c.482-10T>AUnknown
SCN10AENSG00000185313ENST00000449082p.T1659Tc.4977G>ASubstitution - coding silent
SCN5AENSG00000183873ENST00000333535p.S262Gc.784A>GSubstitution - Missense
PLCD1ENSG00000187091ENST00000463876p.L744Lc.2230T>CSubstitution - coding silent
PLCD1ENSG00000187091ENST00000334661p.L723Lc.2167T>CSubstitution - coding silent
TRANK1ENSG00000168016ENST00000429976p.V182Vc.546G>ASubstitution - coding silent
EPM2AIP1ENSG00000178567ENST00000322716p.D71Dc.213C>TSubstitution - coding silent
TRANK1ENSG00000168016ENST00000429976p.I1892Kc.5675T>ASubstitution - Missense
TRANK1ENSG00000168016ENST00000429976p.A1812Tc.5434G>ASubstitution - Missense
TRANK1ENSG00000168016ENST00000428977p.A1262Tc.3784G>ASubstitution - Missense
TRANK1ENSG00000168016ENST00000301807p.A1255Tc.3763G>ASubstitution - Missense
EIF4EENSG00000151247ENST00000450253p.C150Yc.449G>ASubstitution - Missense
HPGDSENSG00000163106ENST00000295256p.A15Sc.43G>TSubstitution - Missense
ENSG00000219492ENST00000508324p.S230Sc.690T>CSubstitution - coding silent
TRAK1ENSG00000182606ENST00000341421p.S335Cc.1004C>GSubstitution - Missense
TRAK1ENSG00000182606ENST00000396175p.S335Cc.1004C>GSubstitution - Missense
CHL1ENSG00000134121ENST00000256509p.Q712Qc.2136G>ASubstitution - coding silent
ZNF620ENSG00000177842ENST00000314529p.V47Mc.139G>ASubstitution - Missense
KCNN2ENSG00000080709ENST00000264773p.Y547Yc.1641C>TSubstitution - coding silent
TSSK1BENSG00000212122ENST00000390666p.A182Vc.545C>TSubstitution - Missense
APCENSG00000134982ENST00000457016p.R2714Cc.8140C>TSubstitution - Missense
SLC7A6OSENSG00000103061ENST00000263997p.R104Rc.312G>ASubstitution - coding silent
CTCFENSG00000102974ENST00000264010p.Y523fs*61c.1566delTDeletion - Frameshift
MOGSENSG00000115275ENST00000233616p.P294fs*11c.881delCDeletion - Frameshift
DCTN1ENSG00000204843ENST00000361874p.T147Ac.439A>GSubstitution - Missense
FIGLAENSG00000183733ENST00000332372p.E134Vc.401A>TSubstitution - Missense
ENST00000332372_v68p.E134Vc.401A>TSubstitution - Missense
TM4SF1ENSG00000169908ENST00000305366p.L58Lc.174G>ASubstitution - coding silent
NM_152536.2p.A558Tc.1672G>ASubstitution - Missense
DLG1ENSG00000075711ENST00000346964p.I569Vc.1705A>GSubstitution - Missense
DLG1ENSG00000075711ENST00000419354p.I569Vc.1705A>GSubstitution - Missense
MFI2ENSG00000163975ENST00000296350p.C189Yc.566G>ASubstitution - Missense
MFI2ENSG00000163975ENST00000296351p.C189Yc.566G>ASubstitution - Missense
NRROSENSG00000174004ENST00000328557p.L290Lc.868C>TSubstitution - coding silent
SMCO1ENSG00000214097ENST00000397537p.D19Ec.57C>ASubstitution - Missense
TNK2ENSG00000061938ENST00000381916p.R190Hc.569G>ASubstitution - Missense
TFRCENSG00000072274ENST00000360110p.G661Rc.1981G>ASubstitution - Missense
NFKB1ENSG00000109320ENST00000226574p.?c.2749+3delaUnknown
CPOXENSG00000080819ENST00000264193p.W318*c.954G>ASubstitution - Nonsense
SU_EPHA6p.D825Nc.2473G>ASubstitution - Missense
EPHA6ENSG00000080224ENST00000389672p.D919Nc.2755G>ASubstitution - Missense
NR1D2ENSG00000174738ENST00000312521p.H342Hc.1026T>CSubstitution - coding silent
THRBENSG00000151090ENST00000396671p.E227Kc.679G>ASubstitution - Missense
PAPSS1ENSG00000138801ENST00000265174p.S6Sc.18C>TSubstitution - coding silent
TET2ENSG00000168769ENST00000380013p.L1329Mc.3985C>ASubstitution - Missense
CLNKENSG00000109684ENST00000226951p.P418Sc.1252C>TSubstitution - Missense
CLNKENSG00000109684ENST00000226951p.P418Sc.1252C>TSubstitution - Missense
HSD17B13ENSG00000170509ENST00000328546p.Q60Rc.179A>GSubstitution - Missense
PTPN13ENSG00000163629ENST00000436978p.I2331Vc.6991A>GSubstitution - Missense
KLHL8ENSG00000145332ENST00000273963p.N279Sc.836A>GSubstitution - Missense
MAPK10ENSG00000109339ENST00000359221p.K191Nc.573A>CSubstitution - Missense
TRMT44ENSG00000155275ENST00000389737p.S191Nc.572G>ASubstitution - Missense
AGPAT9ENSG00000138678ENST00000395226p.C225Wc.675T>GSubstitution - Missense
CDS1ENSG00000163624ENST00000295887p.?c.440+10C>AUnknown
SCD5ENSG00000145284ENST00000273908p.L210Fc.628C>TSubstitution - Missense
ABLIM2ENSG00000163995ENST00000447017p.P115Lc.344C>TSubstitution - Missense
BMP2KENSG00000138756ENST00000335016p.P384Hc.1151C>ASubstitution - Missense
GK2ENSG00000196475ENST00000358842p.I130fs*23c.388delADeletion - Frameshift
KCNU1ENSG00000215262ENST00000399881p.?c.996-2A>GUnknown
KCNU1ENSG00000215262ENST00000399881p.G486Cc.1456G>TSubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.G486Cc.1456G>TSubstitution - Missense
UNC5DENSG00000156687ENST00000287272p.A258Vc.773C>TSubstitution - Missense
UNC5DENSG00000156687ENST00000287272p.?c.2299-6C>TUnknown
DUSP26ENSG00000133878ENST00000256261p.R112Hc.335G>ASubstitution - Missense
UNC5DENSG00000156687ENST00000404895p.?c.752-2A>GUnknown
NRG1ENSG00000157168ENST00000356819p.P306Sc.916C>TSubstitution - Missense
NRG1ENSG00000157168ENST00000521670p.P301Sc.901C>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.D1267Dc.3801C>TSubstitution - coding silent
UBXN8ENSG00000104691ENST00000265616p.T258Ac.772A>GSubstitution - Missense
CCSER1ENSG00000184305ENST00000509176p.S602Pc.1804T>CSubstitution - Missense
CCSER1ENSG00000184305ENST00000432775p.S602Pc.1804T>CSubstitution - Missense
CCSER1ENSG00000184305ENST00000509176p.S602Pc.1804T>CSubstitution - Missense
CHRNB3ENSG00000147432ENST00000289957p.G262Ec.785G>ASubstitution - Missense
C8orf4ENSG00000176907ENST00000315792p.L98Lc.294G>ASubstitution - coding silent
ADAM18ENSG00000168619ENST00000265707p.I701fs*9c.2099_2100insTInsertion - Frameshift
FGFR1ENSG00000077782ENST00000447712p.K502Nc.1506G>TSubstitution - Missense
FGFR1ENSG00000077782ENST00000335922p.K492Nc.1476G>TSubstitution - Missense
WHSC1L1ENSG00000147548ENST00000317025p.N1302fs*4c.3905delADeletion - Frameshift
STARENSG00000147465ENST00000276449p.R272Cc.814C>TSubstitution - Missense
LSM1ENSG00000175324ENST00000311351p.V52Mc.154G>ASubstitution - Missense
TBC1D25ENSG00000068354ENST00000376771p.W463fs*9c.1382delGDeletion - Frameshift
ZNF630ENSG00000221994ENST00000409324p.P413Lc.1238C>TSubstitution - Missense
NM_021140.1p.N634fs*5c.1896_1897insAInsertion - Frameshift
NM_021140.1p.W321Lc.962G>TSubstitution - Missense
CASKENSG00000147044ENST00000378166p.?c.1034-2A>GUnknown
MAOAENSG00000189221ENST00000338702p.A272Vc.815C>TSubstitution - Missense
CASKENSG00000147044ENST00000378166p.E823Kc.2467G>ASubstitution - Missense
SYTL5ENSG00000147041ENST00000297875p.R431Kc.1292G>ASubstitution - Missense
RPGRENSG00000156313ENST00000378505p.E1066delEc.3189_3191delGGADeletion - In frame
FAM47CENSG00000198173ENST00000358047p.R439Cc.1315C>TSubstitution - Missense
ZNF579ENSG00000218891ENST00000325421p.R343Wc.1027C>TSubstitution - Missense
SMC1AENSG00000072501ENST00000322213p.K129Rc.386A>GSubstitution - Missense
KDM5CENSG00000126012ENST00000375401p.P1223Lc.3668C>TSubstitution - Missense
NM_006226.1p.P327fs*11c.974delGDeletion - Frameshift
OSR1ENSG00000143867ENST00000272223p.P115Pc.345G>ASubstitution - coding silent
KIF1AENSG00000130294ENST00000320389p.S740Sc.2220C>TSubstitution - coding silent
BMPR2ENSG00000204217ENST00000374580p.?c.852+8C>TUnknown
INPP4AENSG00000040933ENST00000074304p.V190Ic.568G>ASubstitution - Missense
INPP4AENSG00000040933ENST00000409540p.V190Ic.568G>ASubstitution - Missense
INPP4AENSG00000040933ENST00000074304p.V190Ic.568G>ASubstitution - Missense
GPR113ENSG00000173567ENST00000311519p.G909Rc.2725G>ASubstitution - Missense
GPR113ENSG00000173567ENST00000333478p.G710Rc.2128G>ASubstitution - Missense
HADHAENSG00000084754ENST00000380649p.V494Vc.1482G>ASubstitution - coding silent
EFR3BENSG00000084710ENST00000403714p.L239Lc.715C>TSubstitution - coding silent
EFR3BENSG00000084710ENST00000264719p.L91Lc.271C>TSubstitution - coding silent
ITSN2ENSG00000198399ENST00000406921p.?c.2683-1G>TUnknown
ITSN2ENSG00000198399ENST00000355123p.?c.4596-6C>TUnknown
ITGAXENSG00000140678ENST00000268296p.P146Qc.437C>ASubstitution - Missense
ALCAMENSG00000170017ENST00000306107p.P278fs*15c.829delCDeletion - Frameshift
FANCD2ENSG00000144554ENST00000419585p.D1350Nc.4048G>ASubstitution - Missense
GPR128ENSG00000144820ENST00000273352p.N78Ic.233A>TSubstitution - Missense
MRPL28ENSG00000086504ENST00000389675p.A232Tc.694G>ASubstitution - Missense
OR1F1ENSG00000168124ENST00000304646p.V247Ac.740T>CSubstitution - Missense
MEFVENSG00000103313ENST00000219596p.?c.1727-8C>TUnknown
MEFVENSG00000103313ENST00000541159p.?c.1094-8C>TUnknown
C16orf58ENSG00000140688ENST00000327237p.V193Ic.577G>ASubstitution - Missense
C16orf58ENSG00000140688ENST00000430477p.V51Ic.151G>ASubstitution - Missense
ITGAXENSG00000140678ENST00000268296p.H482fs*44c.1439delCDeletion - Frameshift
SPG7ENSG00000197912ENST00000268704p.P611Lc.1832C>TSubstitution - Missense
DPEP1ENSG00000015413ENST00000261615p.R205Hc.614G>ASubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.E956Gc.2867A>GSubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.H632fs*2c.1887_1888insAInsertion - Frameshift
SPG7ENSG00000197912ENST00000341316p.Y195Yc.585C>TSubstitution - coding silent
PMM2ENSG00000140650ENST00000268261p.R162Qc.485G>ASubstitution - Missense
BANPENSG00000172530ENST00000355163p.T292Tc.876G>ASubstitution - coding silent
FPR2ENSG00000171049ENST00000340023p.V266Ic.796G>ASubstitution - Missense
ADPRMENSG00000170222ENST00000379774p.A29Vc.86C>TSubstitution - Missense
MYH8ENSG00000133020ENST00000403437p.V1829Vc.5487T>CSubstitution - coding silent
PRDM7ENSG00000126856ENST00000449207p.D201Gc.602A>GSubstitution - Missense
MC1RENSG00000258839ENST00000555147p.N56Nc.168C>TSubstitution - coding silent
ZNF347ENSG00000197937ENST00000334197p.R673Sc.2019A>CSubstitution - Missense
ZNF468ENSG00000204604ENST00000243639p.A371Vc.1112C>TSubstitution - Missense
C20orf195ENSG00000125531ENST00000370097p.V211Mc.631G>ASubstitution - Missense
DIDO1ENSG00000101191ENST00000395343p.G298Dc.893G>ASubstitution - Missense
DIDO1ENSG00000101191ENST00000370366p.G298Dc.893G>ASubstitution - Missense
DIDO1ENSG00000101191ENST00000395343p.A2054Vc.6161C>TSubstitution - Missense
IGHV1OR21-1ENSG00000169861ENST00000302092p.D118Ec.354C>ASubstitution - Missense
MORC2ENSG00000133422ENST00000215862p.V811Ec.2432T>ASubstitution - Missense
MORC2ENSG00000133422ENST00000397641p.V873Ec.2618T>ASubstitution - Missense
AP1B1ENSG00000100280ENST00000357586p.G710Gc.2130C>TSubstitution - coding silent
RFPL1ENSG00000128250ENST00000354373p.V231Mc.691G>ASubstitution - Missense
KREMEN1ENSG00000183762ENST00000327813p.R264Rc.790A>CSubstitution - coding silent
PLB1ENSG00000163803ENST00000327757p.Q922Qc.2766G>ASubstitution - coding silent
PLB1ENSG00000163803ENST00000422425p.Q911Qc.2733G>ASubstitution - coding silent
FNDC4ENSG00000115226ENST00000264703p.P70Pc.210A>GSubstitution - coding silent
CADENSG00000084774ENST00000264705p.A1188Ac.3564T>CSubstitution - coding silent
TIMP3ENSG00000100234ENST00000266085p.D202fs*2c.602_603insCInsertion - Frameshift
FBXO7ENSG00000100225ENST00000266087p.S42Sc.126T>CSubstitution - coding silent
SLC5A4ENSG00000100191ENST00000266086p.?c.1022-5C>AUnknown
DEPDC5ENSG00000100150ENST00000400248p.?c.279+5G>AUnknown
PRR14LENSG00000183530ENST00000327423p.K1310Nc.3930A>TSubstitution - Missense
SFI1ENSG00000198089ENST00000400288p.C764Cc.2292C>TSubstitution - coding silent
INPP5JENSG00000185133ENST00000331075p.P642Sc.1924C>TSubstitution - Missense
NM_206943.1p.R1506fs*7c.4516_4517insAInsertion - Frameshift
ALKENSG00000171094ENST00000389048p.G156Gc.468G>CSubstitution - coding silent
CLIP4ENSG00000115295ENST00000320081p.P338Sc.1012C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2123Ic.6368C>TSubstitution - Missense
MTUS1ENSG00000129422ENST00000381861p.M411Ic.1233G>ASubstitution - Missense
MTMR7ENSG00000003987ENST00000180173p.R467Wc.1399C>TSubstitution - Missense
MROENSG00000134042ENST00000256425p.V154Fc.460G>TSubstitution - Missense
KATNAL2ENSG00000167216ENST00000245121p.E104Dc.312G>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.S3145Cc.9434C>GSubstitution - Missense
TIMM22ENSG00000177370ENST00000327158p.T139Ic.416C>TSubstitution - Missense
MYH10ENSG00000133026ENST00000269243p.L1096Lc.3288G>TSubstitution - coding silent
AURKBENSG00000178999ENST00000585124p.R44Hc.131G>ASubstitution - Missense
RAXENSG00000134438ENST00000334889p.A154Ac.462G>ASubstitution - coding silent
ATP8B1ENSG00000081923ENST00000283684p.Q36*c.106C>TSubstitution - Nonsense
ST8SIA3ENSG00000177511ENST00000324000p.H378Rc.1133A>GSubstitution - Missense
PPP1R12CENSG00000125503ENST00000263433p.?c.1025+1G>AUnknown
NLRP7ENSG00000167634ENST00000448121p.V686Ac.2057T>CSubstitution - Missense
KIR2DL4ENSG00000189013ENST00000345540p.P42Lc.125C>TSubstitution - Missense
ROCK1ENSG00000067900ENST00000399799p.S1098Lc.3293C>TSubstitution - Missense
CEP192ENSG00000101639ENST00000506447p.A875Tc.2623G>ASubstitution - Missense
GLP2RENSG00000065325ENST00000262441p.?c.1056+9C>AUnknown
PTPRAENSG00000132670ENST00000380393p.L499Lc.1497G>ASubstitution - coding silent
HM13ENSG00000101294ENST00000398174p.?c.1035-8T>AUnknown
PTPRAENSG00000132670ENST00000380393p.R771Mc.2312G>TSubstitution - Missense
PTPRAENSG00000132670ENST00000358719p.R627Mc.1880G>TSubstitution - Missense
CLTCL1ENSG00000070371ENST00000263200p.T1031Ic.3092C>TSubstitution - Missense
MICAL3ENSG00000243156ENST00000441493p.L1100Lc.3298C>TSubstitution - coding silent
CECR2ENSG00000099954ENST00000262608p.C1072Cc.3216C>TSubstitution - coding silent
CCT8L2ENSG00000198445ENST00000359963p.P247Sc.739C>TSubstitution - Missense
PCNTENSG00000160299ENST00000359568p.V2159Vc.6477A>GSubstitution - coding silent
DNMT3BENSG00000088305ENST00000328111p.D758Nc.2272G>ASubstitution - Missense
DNMT3BENSG00000088305ENST00000201963p.D750Nc.2248G>ASubstitution - Missense
PDE11AENSG00000128655ENST00000286063p.T13Ic.38C>TSubstitution - Missense
TTC30AENSG00000197557ENST00000355689p.L312fs*38c.935delTDeletion - Frameshift
GPR155ENSG00000163328ENST00000392551p.V64Lc.190G>CSubstitution - Missense
WIPF1ENSG00000115935ENST00000392546p.P347Pc.1041G>ASubstitution - coding silent
CHRNA1ENSG00000138435ENST00000261007p.D434Dc.1302C>TSubstitution - coding silent
SP3ENSG00000172845ENST00000310015p.V140Ac.419T>CSubstitution - Missense
ENSG00000091436ENST00000409176p.S703Sc.2109C>TSubstitution - coding silent
ITGA6ENSG00000091409ENST00000409080p.Q1079fs*10c.3234_3235insAInsertion - Frameshift
PDK1ENSG00000152256ENST00000282077p.S435Gc.1303A>GSubstitution - Missense
DLX1ENSG00000144355ENST00000361725p.P156Lc.467C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.A26622Vc.79865C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.A20250Vc.60749C>TSubstitution - Missense
ENST00000356127p.A26620Vc.79859C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.R22955_A22956insRc.68861_68862insAAGInsertion - In frame
TTNENSG00000155657ENST00000342175p.R16650_A16651insRc.49946_49947insAAGInsertion - In frame
TTNENSG00000155657ENST00000342992p.I22578Mc.67734A>GSubstitution - Missense
ENST00000356127p.I22576Mc.67728A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.Y9077Hc.27229T>CSubstitution - Missense
ENST00000356127p.Y9077Hc.27229T>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.V5170delVc.15508_15510delGTTDeletion - In frame
ENST00000356127p.V11542delVc.34624_34626delGTTDeletion - In frame
NM_003319p.V5045delVc.15133_15135delGTTDeletion - In frame
TTNENSG00000155657ENST00000359218p.P10275Pc.30825A>GSubstitution - coding silent
ENST00000356127p.P16645Pc.49935A>GSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.T17132Ac.51394A>GSubstitution - Missense
ENST00000356127p.T17130Ac.51388A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.T10827Ac.32479A>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.?c.32216-7T>AUnknown
ENST00000331807p.K249fs*2c.739delADeletion - Frameshift
MPP4ENSG00000082126ENST00000409474p.S404Gc.1210A>GSubstitution - Missense
MPP4ENSG00000082126ENST00000409474p.?c.733-10C>AUnknown
CASP8ENSG00000064012ENST00000358485p.M205Ic.615G>ASubstitution - Missense
CASP8ENSG00000064012ENST00000264275p.C329Yc.986G>ASubstitution - Missense
ORC2ENSG00000115942ENST00000234296p.I49fs*1c.145delADeletion - Frameshift
ENST00000353957p.Y301fs*6c.896delTDeletion - Frameshift
PLCL1ENSG00000115896ENST00000428675p.P425fs*11c.1268delGDeletion - Frameshift
KRTAP9-3ENSG00000204873ENST00000411528p.T84Ic.251C>TSubstitution - Missense
KRT24ENSG00000167916ENST00000264651p.A380Vc.1139C>TSubstitution - Missense
KRT35ENSG00000197079ENST00000393989p.W287*c.861G>ASubstitution - Nonsense
ZZEF1ENSG00000074755ENST00000381638p.?c.5435-6C>TUnknown
KRT38ENSG00000171360ENST00000246646p.?c.895-4C>GUnknown
KRT31ENSG00000094796ENST00000251645p.E212Ec.636G>ASubstitution - coding silent
DSCR3ENSG00000157538ENST00000309117p.V25Mc.73G>ASubstitution - Missense
SONENSG00000159140ENST00000356577p.P40Hc.119C>ASubstitution - Missense
ATP8A1ENSG00000124406ENST00000381668p.?c.1413+1G>AUnknown
ATP8A1ENSG00000124406ENST00000264449p.?c.1368+1G>AUnknown
OTOP1ENSG00000163982ENST00000296358p.E514Kc.1540G>ASubstitution - Missense
TLR1ENSG00000174125ENST00000308979p.A774Tc.2320G>ASubstitution - Missense
MST1RENSG00000164078ENST00000296474p.Q516Hc.1548G>TSubstitution - Missense
RBM6ENSG00000004534ENST00000266022p.G98fs*56c.287delGDeletion - Frameshift
AMIGO3ENSG00000176020ENST00000320431p.V331Mc.991G>ASubstitution - Missense
IP6K1ENSG00000176095ENST00000321599p.R22Wc.64C>TSubstitution - Missense
TRAIPENSG00000183763ENST00000331456p.?c.1087-1G>AUnknown
MST1ENSG00000173531ENST00000449682p.?c.728+4C>TUnknown
AMTENSG00000145020ENST00000273588p.A107Tc.319G>ASubstitution - Missense
LAMB2ENSG00000172037ENST00000305544p.S233Ic.698G>TSubstitution - Missense
QARSENSG00000172053ENST00000306125p.L138Lc.414G>ASubstitution - coding silent
USP19ENSG00000172046ENST00000434032p.R1324fs*11c.3969delCDeletion - Frameshift
NT5DC2ENSG00000168268ENST00000307076p.S5Sc.15C>TSubstitution - coding silent
STAB1ENSG00000010327ENST00000321725p.G744Dc.2231G>ASubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.L3343Ic.10027C>ASubstitution - Missense
NM_025222.2p.L37Lc.111A>GSubstitution - coding silent
DOCK3ENSG00000088538ENST00000266037p.P1852fs*45c.5549delCDeletion - Frameshift
DOCK3ENSG00000088538ENST00000266037p.H631Yc.1891C>TSubstitution - Missense
ZMYND10ENSG00000004838ENST00000231749p.?c.1248-8G>AUnknown
IFRD2ENSG00000214706ENST00000336089p.C575Yc.1724G>ASubstitution - Missense
KIAA0319ENSG00000137261ENST00000378214p.L449Fc.1347G>CSubstitution - Missense
NRSN1ENSG00000152954ENST00000378475p.E65Kc.193G>ASubstitution - Missense
MLLT4ENSG00000130396ENST00000392108p.A545Sc.1633G>TSubstitution - Missense
ENST00000366809p.A529Sc.1585G>TSubstitution - Missense
TCP10L2ENSG00000166984ENST00000366832p.G114Gc.342G>ASubstitution - coding silent
TCP10L2ENSG00000166984ENST00000366832p.G114Gc.342G>ASubstitution - coding silent
NUP205ENSG00000155561ENST00000285968p.?c.5812+8T>CUnknown
CALD1ENSG00000122786ENST00000393118p.K113Rc.338A>GSubstitution - Missense
BTN3A1ENSG00000026950ENST00000476549p.I222Ic.666C>TSubstitution - coding silent
RAB19ENSG00000146955ENST00000275874p.L59Fc.175C>TSubstitution - Missense
RAB19ENSG00000146955ENST00000356407p.L59Fc.175C>TSubstitution - Missense
KIAA1549ENSG00000122778ENST00000422774p.S816Nc.2447G>ASubstitution - Missense
KIAA1549ENSG00000122778ENST00000422774p.P923Pc.2769C>TSubstitution - coding silent
ENST00000242365_v65p.P873Pc.2619C>TSubstitution - coding silent
HEPACAM2ENSG00000188175ENST00000394468p.V36Gc.107T>GSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.F1382Fc.4146C>TSubstitution - coding silent
SMURF1ENSG00000198742ENST00000361125p.S736Sc.2208C>ASubstitution - coding silent
TRRAPENSG00000196367ENST00000355540p.G2101Ec.6302G>ASubstitution - Missense
TRRAPENSG00000196367ENST00000359863p.G2119Ec.6356G>ASubstitution - Missense
SHFM1ENSG00000127922ENST00000413065p.V48Vc.144A>GSubstitution - coding silent
EPPK1ENSG00000227184ENST00000525985p.V1776Ac.5327T>CSubstitution - Missense
PUF60ENSG00000179950ENST00000526683p.?c.207+6C>TUnknown
SU_Erk7p.P255Pc.765G>ASubstitution - coding silent
FAM83HENSG00000180921ENST00000388913p.N1029Nc.3087C>TSubstitution - coding silent
LY6HENSG00000176956ENST00000430474p.C105Cc.315C>TSubstitution - coding silent
CYP11B2ENSG00000179142ENST00000323110p.?c.1398+3A>GUnknown
NM_001702.1p.R804Gc.2410A>GSubstitution - Missense
ENST00000356067p.?c.1417-3C>TUnknown
ZNF251ENSG00000198169ENST00000292562p.P305Lc.914C>TSubstitution - Missense
NM_004260.1p.T690Sc.2068A>TSubstitution - Missense
NCOA2ENSG00000140396ENST00000452400p.S1211Nc.3632G>ASubstitution - Missense
PREX2ENSG00000046889ENST00000288368p.T1192Tc.3576T>CSubstitution - coding silent
PCM1ENSG00000078674ENST00000325083p.R138Qc.413G>ASubstitution - Missense
MTUS1ENSG00000129422ENST00000262102p.M1164Ic.3492G>ASubstitution - Missense
MAST1ENSG00000105613ENST00000251472p.K27Kc.81G>ASubstitution - coding silent
ASNA1ENSG00000198356ENST00000357332p.K237Nc.711G>TSubstitution - Missense
ASNA1ENSG00000198356ENST00000357332p.*349_350ins*c.1042_1043insAGTInsertion - In frame
DOCK6ENSG00000130158ENST00000319867p.A990Ac.2970C>ASubstitution - coding silent
KANK2ENSG00000197256ENST00000355150p.S425Sc.1275G>ASubstitution - coding silent
YIPF2ENSG00000130733ENST00000253031p.T130Mc.389C>TSubstitution - Missense
C19orf38ENSG00000214212ENST00000397820p.H87Yc.259C>TSubstitution - Missense
SLC37A1ENSG00000160190ENST00000352133p.P529Lc.1586C>TSubstitution - Missense
RIPK4ENSG00000183421ENST00000332512p.N680Nc.2040C>TSubstitution - coding silent
RIPK4ENSG00000183421ENST00000352483p.N728Nc.2184C>TSubstitution - coding silent
BACE2ENSG00000182240ENST00000330333p.Q378Hc.1134G>TSubstitution - Missense
DSCAMENSG00000171587ENST00000400454p.A962Tc.2884G>ASubstitution - Missense
IGSF5ENSG00000183067ENST00000380588p.?c.957-4G>AUnknown
BRWD1ENSG00000185658ENST00000333229p.?c.1105-9C>TUnknown
BRWD1ENSG00000185658ENST00000342449p.?c.1105-9C>TUnknown
VAMP5ENSG00000168899ENST00000306384p.G109Sc.325G>ASubstitution - Missense
TMEM150AENSG00000168890ENST00000334462p.F225Fc.675C>TSubstitution - coding silent
COL6A1ENSG00000142156ENST00000361866p.?c.1002+10G>TUnknown
COL18A1ENSG00000182871ENST00000359759p.G586Dc.1757G>ASubstitution - Missense
ENST00000327861p.A32Tc.94G>ASubstitution - Missense
SIK1ENSG00000142178ENST00000270162p.T381Tc.1143C>TSubstitution - coding silent
WDR4ENSG00000160193ENST00000398208p.A107Vc.320C>TSubstitution - Missense
NDUFV3ENSG00000160194ENST00000354250p.Q45Rc.134A>GSubstitution - Missense
KANSL3ENSG00000114982ENST00000431828p.R602*c.1804C>TSubstitution - Nonsense
KANSL3ENSG00000114982ENST00000431828p.V831Ac.2492T>CSubstitution - Missense
ADAM17ENSG00000151694ENST00000310823p.I282Fc.844A>TSubstitution - Missense
RNF103ENSG00000239305ENST00000237455p.Y667fs*1c.2001delTDeletion - Frameshift
VAMP8ENSG00000118640ENST00000263864p.N73Nc.219C>TSubstitution - coding silent
TBC1D14ENSG00000132405ENST00000409757p.S66Lc.197C>TSubstitution - Missense
SETD5ENSG00000168137ENST00000302463p.T1219fs*53c.3651delGDeletion - Frameshift
SRGAP3ENSG00000196220ENST00000383836p.V850fs*10c.2541_2542insGInsertion - Frameshift
SRGAP3ENSG00000196220ENST00000383836p.?c.423+2T>CUnknown
EPHA3ENSG00000044524ENST00000336596p.K365fs*6c.1090delADeletion - Frameshift
EPHA3ENSG00000044524ENST00000452448p.K365fs*6c.1090delADeletion - Frameshift
ROBO2ENSG00000185008ENST00000461745p.T48Sc.142A>TSubstitution - Missense
ROBO2ENSG00000185008ENST00000487694p.T64Sc.190A>TSubstitution - Missense
CNTN3ENSG00000113805ENST00000263665p.C196Yc.587G>ASubstitution - Missense
GXYLT2ENSG00000172986ENST00000389617p.G345Rc.1033G>ASubstitution - Missense
GXYLT2ENSG00000172986ENST00000389617p.T373Ac.1117A>GSubstitution - Missense
NM_032217.3p.A2561Tc.7681G>ASubstitution - Missense
ADAMTS3ENSG00000156140ENST00000286657p.Q1135*c.3403C>TSubstitution - Nonsense
ADAMTS3ENSG00000156140ENST00000286657p.?c.504+9C>TUnknown
UGT2B28ENSG00000135226ENST00000335568p.C515fs*>15c.1540delTDeletion - Frameshift
UGT2B7ENSG00000171234ENST00000305231p.Q48Qc.144G>ASubstitution - coding silent
UGT2B15ENSG00000196620ENST00000338206p.N435Dc.1303A>GSubstitution - Missense
UGT2B10ENSG00000109181ENST00000265403p.N212fs*17c.630delADeletion - Frameshift
ADCY7ENSG00000121281ENST00000394697p.A115Tc.343G>ASubstitution - Missense
HEATR3ENSG00000155393ENST00000299192p.K7Kc.21G>ASubstitution - coding silent
N4BP1ENSG00000102921ENST00000262384p.T630Ic.1889C>TSubstitution - Missense
N4BP1ENSG00000102921ENST00000262384p.T677Ic.2030C>TSubstitution - Missense
PPEF2ENSG00000156194ENST00000286719p.K261Nc.783G>TSubstitution - Missense
PARM1ENSG00000169116ENST00000307428p.T163Tc.489C>TSubstitution - coding silent
PARM1ENSG00000169116ENST00000307428p.T222Tc.666C>TSubstitution - coding silent
NM_020777.1p.P97Sc.289C>TSubstitution - Missense
GPR179ENSG00000188888ENST00000342292p.T2357Ic.7070C>TSubstitution - Missense
GSG2ENSG00000177602ENST00000325418p.F594fs*19c.1776delTDeletion - Frameshift
GSG2ENSG00000177602ENST00000325418p.F594fs*19c.1776delTDeletion - Frameshift
CPNE2ENSG00000140848ENST00000290776p.V23Mc.67G>ASubstitution - Missense
GNAO1ENSG00000087258ENST00000262493p.?c.119-4A>GUnknown
SLC6A2ENSG00000103546ENST00000219833p.P285Pc.855C>TSubstitution - coding silent
IRX3ENSG00000177508ENST00000329734p.H149Hc.447C>TSubstitution - coding silent
NM_025134.3p.?c.5247+1G>AUnknown
FAM86AENSG00000118894ENST00000427587p.V284Ic.850G>ASubstitution - Missense
SALL1ENSG00000103449ENST00000251020p.A1240Ac.3720G>ASubstitution - coding silent
PRICKLE2ENSG00000163637ENST00000295902p.R308Qc.923G>ASubstitution - Missense
PRICKLE2ENSG00000163637ENST00000295902p.G43Cc.127G>TSubstitution - Missense
ADAMTS9ENSG00000163638ENST00000498707p.R1744Ic.5231G>TSubstitution - Missense
ADAMTS9ENSG00000163638ENST00000498707p.C1091Rc.3271T>CSubstitution - Missense
FAM3DENSG00000198643ENST00000358781p.S43Sc.129G>ASubstitution - coding silent
C3orf67ENSG00000163689ENST00000295966p.N216Sc.647A>GSubstitution - Missense
CDCA2ENSG00000184661ENST00000330560p.Y135Hc.403T>CSubstitution - Missense
NEFMENSG00000104722ENST00000221166p.Q566Lc.1697A>TSubstitution - Missense
ADAM7ENSG00000069206ENST00000175238p.N127Dc.379A>GSubstitution - Missense
ENTPD4ENSG00000197217ENST00000358689p.L486Pc.1457T>CSubstitution - Missense
RHOBTB2ENSG00000008853ENST00000251822p.E437fs*2c.1305delGDeletion - Frameshift
NPM2ENSG00000158806ENST00000397940p.E144Dc.432A>TSubstitution - Missense
NPM2ENSG00000158806ENST00000397940p.D145Ec.435T>GSubstitution - Missense
CNGB3ENSG00000170289ENST00000320005p.T383Ic.1148C>TSubstitution - Missense
TMEM66ENSG00000133872ENST00000256255p.T265Ac.793A>GSubstitution - Missense
FZD3ENSG00000104290ENST00000537916p.R628Qc.1883G>ASubstitution - Missense
ADRA1AENSG00000120907ENST00000380586p.T111Ac.331A>GSubstitution - Missense
ADRA1AENSG00000120907ENST00000380582p.T111Ac.331A>GSubstitution - Missense
ADRA1AENSG00000120907ENST00000380581p.T111Ac.331A>GSubstitution - Missense
XPAENSG00000136936ENST00000375128p.I240Ic.720T>CSubstitution - coding silent
ENST00000375112p.T108fs*7c.322delADeletion - Frameshift
MATN2ENSG00000132561ENST00000520016p.M733Vc.2197A>GSubstitution - Missense
TNKSENSG00000173273ENST00000310430p.A817Vc.2450C>TSubstitution - Missense
TNKSENSG00000173273ENST00000310430p.A817Vc.2450C>TSubstitution - Missense
PDP1ENSG00000164951ENST00000396200p.K231Kc.693A>GSubstitution - coding silent
SLC26A7ENSG00000147606ENST00000309536p.K333fs*20c.994delADeletion - Frameshift
RIPK2ENSG00000104312ENST00000220751p.?c.1029+3_1029+13delaaaaaaaaaaaUnknown
CEP95ENSG00000258890ENST00000556440p.T299Tc.897G>ASubstitution - coding silent
TEX2ENSG00000136478ENST00000258991p.L98Lc.294G>ASubstitution - coding silent
DDX42ENSG00000198231ENST00000578681p.T496Tc.1488C>GSubstitution - coding silent
ACEENSG00000159640ENST00000290866p.R487Cc.1459C>TSubstitution - Missense
MRC2ENSG00000011028ENST00000303375p.A709fs*4c.2121delGDeletion - Frameshift
PAFAH1B1ENSG00000007168ENST00000397195p.S304fs*29c.904delADeletion - Frameshift
KCNJ12ENSG00000184185ENST00000331718p.E389Ec.1167G>ASubstitution - coding silent
MAP2K3ENSG00000034152ENST00000361818p.R146Wc.436C>TSubstitution - Missense
AKAP10ENSG00000108599ENST00000225737p.F597Fc.1791C>TSubstitution - coding silent
HIC1ENSG00000177374ENST00000399849p.A48Tc.142G>ASubstitution - Missense
C17orf58ENSG00000186665ENST00000334461p.D21Ec.63C>ASubstitution - Missense
CACNG4ENSG00000075461ENST00000262138p.L190Mc.568C>ASubstitution - Missense
PRKCAENSG00000154229ENST00000413366p.K486Nc.1458G>TSubstitution - Missense
CACNG5ENSG00000075429ENST00000169565p.V146fs*44c.426_427insCTInsertion - Frameshift
ENST00000329040p.?c.227+8C>TUnknown
SU_NEK8p.R23Qc.68G>ASubstitution - Missense
FASNENSG00000169710ENST00000306749p.D1635Dc.4905T>CSubstitution - coding silent
MRPL12ENSG00000262814ENST00000333676p.K63fs*118c.179_180insCInsertion - Frameshift
ENST00000436173p.E447Gc.1340A>GSubstitution - Missense
RPTORENSG00000141564ENST00000306801p.?c.3605+8G>CUnknown
CHMP6ENSG00000176108ENST00000325167p.E176Kc.526G>ASubstitution - Missense
RNF213ENSG00000173821ENST00000336301p.C1927Cc.5781T>CSubstitution - coding silent
ENST00000411702p.C3903Cc.11709T>CSubstitution - coding silent
ENST00000411702p.R780Rc.2340G>ASubstitution - coding silent
CHD3ENSG00000170004ENST00000330494p.G1590Ec.4769G>ASubstitution - Missense
ENST00000309710p.A130Vc.389C>TSubstitution - Missense
TBC1D16ENSG00000167291ENST00000310924p.?c.1257+10G>AUnknown
CHD3ENSG00000170004ENST00000330494p.A241fs*54c.715delCDeletion - Frameshift
DSC2ENSG00000134755ENST00000251081p.T340Tc.1020T>CSubstitution - coding silent
TBCDENSG00000141556ENST00000355528p.S863Nc.2588G>ASubstitution - Missense
NPC1ENSG00000141458ENST00000269228p.R980Rc.2938A>CSubstitution - coding silent
FHOD3ENSG00000134775ENST00000257209p.Q592Qc.1776G>ASubstitution - coding silent
ELP2ENSG00000134759ENST00000350494p.P644Hc.1931C>ASubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.S686Lc.2057C>TSubstitution - Missense
RAD23AENSG00000179262ENST00000316856p.L10Rc.29T>GSubstitution - Missense
FARSAENSG00000179115ENST00000314606p.?c.1026+5G>AUnknown
MAST1ENSG00000105613ENST00000251472p.K27Kc.81G>ASubstitution - coding silent
THOP1ENSG00000172009ENST00000307741p.H477Hc.1431C>TSubstitution - coding silent
ZNF254ENSG00000213096ENST00000357002p.S209Sc.627C>ASubstitution - coding silent
GNG7ENSG00000176533ENST00000382159p.N45Nc.135C>TSubstitution - coding silent
PRR12ENSG00000126464ENST00000418929p.R1769Wc.5305C>TSubstitution - Missense
SNRNP70ENSG00000104852ENST00000221448p.?c.266-1G>AUnknown
PDCD2LENSG00000126249ENST00000246535p.?c.797+3delaUnknown
PEPDENSG00000124299ENST00000244137p.R470Cc.1408C>TSubstitution - Missense
KCTD15ENSG00000153885ENST00000284006p.?c.387+7C>TUnknown
SLC7A10ENSG00000130876ENST00000253188p.V493Mc.1477G>ASubstitution - Missense
KLK2ENSG00000167751ENST00000325321p.K131Kc.393G>ASubstitution - coding silent
KLK2ENSG00000167751ENST00000358049p.K131Kc.393G>ASubstitution - coding silent
KLK4ENSG00000167749ENST00000324041p.Q95Qc.285G>ASubstitution - coding silent
KDM4BENSG00000127663ENST00000159111p.G576Gc.1728T>CSubstitution - coding silent
MYH14ENSG00000105357ENST00000262269p.L1086Lc.3256C>TSubstitution - coding silent
ENST00000301415p.S1044Sc.3132C>TSubstitution - coding silent
ENST00000359032_v68p.?c.68-7C>TUnknown
BPIFA1ENSG00000198183ENST00000375422p.C180Cc.540C>TSubstitution - coding silent
GZMMENSG00000197540ENST00000264553p.L223Lc.667C>TSubstitution - coding silent
KIAA1755ENSG00000149633ENST00000279024p.G1131Gc.3393C>TSubstitution - coding silent
ATRNENSG00000088812ENST00000262919p.P984fs*34c.2946delCDeletion - Frameshift
SOGA1ENSG00000149639ENST00000279034p.?c.2768+7G>AUnknown
PROKR2ENSG00000101292ENST00000217270p.L383Lc.1147C>TSubstitution - coding silent
BCAS1ENSG00000064787ENST00000395961p.E266Kc.796G>ASubstitution - Missense
NFATC2ENSG00000101096ENST00000396009p.R541Rc.1621C>ASubstitution - coding silent
SLC23A2ENSG00000089057ENST00000338244p.L201Lc.601C>TSubstitution - coding silent
SLC23A2ENSG00000089057ENST00000338244p.A58Tc.172G>ASubstitution - Missense
CDH26ENSG00000124215ENST00000348616p.L371Fc.1111C>TSubstitution - Missense
CDH26ENSG00000124215ENST00000244047p.L371Fc.1111C>TSubstitution - Missense
CDH26ENSG00000124215ENST00000244047p.D389Dc.1167C>TSubstitution - coding silent
CTSZENSG00000101160ENST00000217131p.V276Mc.826G>ASubstitution - Missense
TFAP2CENSG00000087510ENST00000201031p.G36Rc.106G>ASubstitution - Missense
FLNCENSG00000128591ENST00000325888p.S2395Nc.7184G>ASubstitution - Missense
FAM71F1ENSG00000135248ENST00000315184p.L322Pc.965T>CSubstitution - Missense
CADPS2ENSG00000081803ENST00000449022p.A588Tc.1762G>ASubstitution - Missense
FEZF1ENSG00000128610ENST00000442488p.T388Ic.1163C>TSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.A1539Ac.4617A>GSubstitution - coding silent
PTPRZ1ENSG00000106278ENST00000393386p.A1539Ac.4617A>GSubstitution - coding silent
PTPRZ1ENSG00000106278ENST00000393386p.V16Ac.47T>CSubstitution - Missense
DOCK8ENSG00000107099ENST00000453981p.H117Rc.350A>GSubstitution - Missense
C9orf72ENSG00000147894ENST00000380003p.F462fs*9c.1385_1386delTTDeletion - Frameshift
LRGUKENSG00000155530ENST00000285928p.G762Rc.2284G>ASubstitution - Missense
CPA5ENSG00000158525ENST00000393213p.G57Gc.171G>TSubstitution - coding silent
KLHDC10ENSG00000128607ENST00000335420p.W410Cc.1230G>TSubstitution - Missense
TNPO3ENSG00000064419ENST00000265388p.T475Mc.1424C>TSubstitution - Missense
FLNCENSG00000128591ENST00000325888p.A1569Tc.4705G>ASubstitution - Missense
TLN1ENSG00000137076ENST00000314888p.R827Rc.2481C>TSubstitution - coding silent
CA9ENSG00000107159ENST00000378357p.A260Tc.778G>ASubstitution - Missense
PIGOENSG00000165282ENST00000378617p.T455fs*51c.1361_1362insGInsertion - Frameshift
RPP25LENSG00000164967ENST00000297613p.P140fs*>24c.419delCDeletion - Frameshift
UBAP2ENSG00000137073ENST00000379238p.V801fs*11c.2401delGDeletion - Frameshift
UBAP2ENSG00000137073ENST00000379238p.E257Kc.769G>ASubstitution - Missense
FAM189A2ENSG00000135063ENST00000257515p.A127Tc.379G>ASubstitution - Missense
ENST00000377290p.A213Tc.637G>ASubstitution - Missense
KANK1ENSG00000107104ENST00000382303p.N328Nc.984C>TSubstitution - coding silent
KANK1ENSG00000107104ENST00000382293p.N170Nc.510C>TSubstitution - coding silent
GLDCENSG00000178445ENST00000321612p.?c.2053-4A>GUnknown
ENST00000328460p.A2Tc.4G>ASubstitution - Missense
DOCK8ENSG00000107099ENST00000432829p.E1500Ec.4500G>ASubstitution - coding silent
RECKENSG00000122707ENST00000377966p.Q718Hc.2154G>TSubstitution - Missense
PRKCDENSG00000163932ENST00000394729p.?c.1415+5delgUnknown
PRKCDENSG00000163932ENST00000394729p.?c.1415+5delgUnknown
SFMBT1ENSG00000163935ENST00000394750p.P348fs*31c.1043delCDeletion - Frameshift
SFMBT1ENSG00000163935ENST00000394750p.?c.124-1G>AUnknown
RFT1ENSG00000163933ENST00000296292p.G368Sc.1102G>ASubstitution - Missense
KCNS3ENSG00000170745ENST00000304101p.I386Ic.1158C>TSubstitution - coding silent
CWC22ENSG00000163510ENST00000410053p.?c.1817+10C>TUnknown
KCNS3ENSG00000170745ENST00000304101p.R293Rc.879G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.T996Ic.2987C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.T996Ic.2987C>TSubstitution - Missense
MYT1LENSG00000186487ENST00000399161p.L887fs*53c.2659delCDeletion - Frameshift
FAM171BENSG00000144369ENST00000304698p.A372Dc.1115C>ASubstitution - Missense
FSIP2ENSG00000188738ENST00000343098p.D277fs*10c.817delADeletion - Frameshift
APOBENSG00000084674ENST00000233242p.I3770Vc.11308A>GSubstitution - Missense
APOBENSG00000084674ENST00000233242p.A2787Vc.8360C>TSubstitution - Missense
MAP2ENSG00000078018ENST00000360351p.D1669Nc.5005G>ASubstitution - Missense
MAP2ENSG00000078018ENST00000199940p.D370Nc.1108G>ASubstitution - Missense
PIKFYVEENSG00000115020ENST00000264380p.A434Ac.1302G>ASubstitution - coding silent
PXDNLENSG00000147485ENST00000356297p.A1007Tc.3019G>ASubstitution - Missense
NM_006904p.S75Nc.224G>ASubstitution - Missense
ABCA12ENSG00000144452ENST00000272895p.A353Tc.1057G>ASubstitution - Missense
APOBENSG00000084674ENST00000233242p.S1848Sc.5544A>CSubstitution - coding silent
ENST00000409172p.?c.921-9C>TUnknown
BHLHE22ENSG00000180828ENST00000321870p.P360Pc.1080G>ASubstitution - coding silent
PRPS2ENSG00000101911ENST00000380668p.R49Rc.145A>CSubstitution - coding silent
OCRLENSG00000122126ENST00000371113p.?c.723-6T>CUnknown
XPNPEP2ENSG00000122121ENST00000371106p.R309Hc.926G>ASubstitution - Missense
TENM1ENSG00000009694ENST00000371130p.G545Dc.1634G>ASubstitution - Missense
NM_000828.2p.A313Tc.937G>ASubstitution - Missense
GRIA3ENSG00000125675ENST00000264357p.A313Tc.937G>ASubstitution - Missense
KIAA1210ENSG00000250423ENST00000402510p.D1112Dc.3336C>TSubstitution - coding silent
ZNF557ENSG00000130544ENST00000252840p.S183Gc.547A>GSubstitution - Missense
EMR1ENSG00000174837ENST00000312053p.?c.1039-13_1045>17Unknown
EMR1ENSG00000174837ENST00000312053p.C350fs*4c.1045delTDeletion - Frameshift
FAM127AENSG00000134590ENST00000257013p.T20Mc.59C>TSubstitution - Missense
ATXN3LENSG00000123594ENST00000380622p.N150Nc.450T>CSubstitution - coding silent
NM_147174.2p.H203Yc.607C>TSubstitution - Missense
IGSF1ENSG00000147255ENST00000361420p.V868Lc.2602G>TSubstitution - Missense
ZNF280CENSG00000056277ENST00000370978p.A231Tc.691G>ASubstitution - Missense
MAP2K7ENSG00000076984ENST00000397979p.?c.856-1G>AUnknown
ZMAT1ENSG00000166432ENST00000372782p.P496Tc.1486C>ASubstitution - Missense
ARMCX1ENSG00000126947ENST00000372829p.K283Nc.849G>TSubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.G43Ec.128G>ASubstitution - Missense
NUTM2FENSG00000130950ENST00000253262p.V16Ac.47T>CSubstitution - Missense
PTPDC1ENSG00000158079ENST00000288976p.Q420*c.1258C>TSubstitution - Nonsense
PTPDC1ENSG00000158079ENST00000375360p.Q368*c.1102C>TSubstitution - Nonsense
ARHGAP44ENSG00000006740ENST00000379672p.I784Tc.2351T>CSubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.E3154Ec.9462G>ASubstitution - coding silent
COL4A5ENSG00000188153ENST00000361603p.S1598Sc.4794C>ASubstitution - coding silent
TEX13AENSG00000133149ENST00000413579p.A185Vc.554C>TSubstitution - Missense
XM_497139.1p.R253Wc.757C>TSubstitution - Missense
NM_004259.4p.V202Vc.606G>ASubstitution - coding silent
ATPAF2ENSG00000171953ENST00000474627p.A89Ac.267A>GSubstitution - coding silent
SREBF1ENSG00000072310ENST00000355815p.R625Qc.1874G>ASubstitution - Missense
ENST00000399211p.E114Kc.340G>ASubstitution - Missense
NCOR1ENSG00000141027ENST00000268712p.E529fs*26c.1584delADeletion - Frameshift
SCARF1ENSG00000074660ENST00000263071p.P577Lc.1730C>TSubstitution - Missense
ENST00000379640p.?c.300+8A>GUnknown
SLC35G6ENSG00000259224ENST00000412468p.R134Hc.401G>ASubstitution - Missense
UNC13DENSG00000092929ENST00000207549p.?c.2299-3C>TUnknown
ENST00000221482p.S1083Ic.3248G>TSubstitution - Missense
ZNF257ENSG00000197134ENST00000435820p.E61fs*4c.176_177insAInsertion - Frameshift
ENGASEENSG00000167280ENST00000579016p.D209Ac.626A>CSubstitution - Missense
USP36ENSG00000055483ENST00000312010p.V188Ic.562G>ASubstitution - Missense
USP36ENSG00000055483ENST00000312010p.V188Ic.562G>ASubstitution - Missense
BIRC5ENSG00000089685ENST00000301633p.?c.111+9G>AUnknown
BIRC5ENSG00000089685ENST00000374948p.?c.111+9G>AUnknown
ZNF507ENSG00000168813ENST00000355898p.E400Ec.1200G>ASubstitution - coding silent
ZNF536ENSG00000198597ENST00000355537p.C350Cc.1050C>TSubstitution - coding silent
KIAA1107ENSG00000069712ENST00000370378p.A651Tc.1951G>ASubstitution - Missense
SLC2A5ENSG00000142583ENST00000377424p.L87Lc.261C>ASubstitution - coding silent
SLC2A5ENSG00000142583ENST00000377414p.L87Lc.261C>ASubstitution - coding silent
COL4A1ENSG00000187498ENST00000375820p.?c.1000-1G>TUnknown
COL4A1ENSG00000187498ENST00000375820p.E297Gc.890A>GSubstitution - Missense
ENST00000414268p.R282Qc.845G>ASubstitution - Missense
FMN1ENSG00000248905ENST00000320930p.R282Qc.845G>ASubstitution - Missense
C1QTNF9ENSG00000240654ENST00000382071p.N269fs*16c.806_807insAInsertion - Frameshift
SKA3ENSG00000165480ENST00000314759p.N86fs*6c.257delADeletion - Frameshift
SKA3ENSG00000165480ENST00000400018p.N86fs*6c.257delADeletion - Frameshift
GJB6ENSG00000121742ENST00000400065p.H16Hc.48C>TSubstitution - coding silent
RPUSD2ENSG00000166133ENST00000315616p.G279Rc.835G>ASubstitution - Missense
CASC5ENSG00000137812ENST00000346991p.S172fs*3c.508_509insTInsertion - Frameshift
TMCO5AENSG00000166069ENST00000319669p.Q39Qc.117A>GSubstitution - coding silent
NADK2ENSG00000152620ENST00000381937p.P233Pc.699T>CSubstitution - coding silent
NADK2ENSG00000152620ENST00000397338p.P70Pc.210T>CSubstitution - coding silent
IRX1ENSG00000170549ENST00000302006p.P255Sc.763C>TSubstitution - Missense
SPEF2ENSG00000152582ENST00000356031p.P984Sc.2950C>TSubstitution - Missense
IL7RENSG00000168685ENST00000303115p.K110Nc.330G>TSubstitution - Missense
CHST6ENSG00000183196ENST00000390664p.P191Pc.573C>TSubstitution - coding silent
WDR59ENSG00000103091ENST00000262144p.G899Sc.2695G>ASubstitution - Missense
WDR24ENSG00000127580ENST00000248142p.E392Ec.1176G>ASubstitution - coding silent
C6ENSG00000039537ENST00000263413p.S277fs*43c.828delGDeletion - Frameshift
RICTORENSG00000164327ENST00000357387p.?c.50-1G>AUnknown
MBTPS1ENSG00000140943ENST00000343411p.C16Rc.46T>CSubstitution - Missense
PLCG2ENSG00000197943ENST00000359376p.R20fs*39c.56_57delAGDeletion - Frameshift
ENST00000248272p.E308Kc.922G>ASubstitution - Missense
GCSHENSG00000140905ENST00000315467p.G101Ac.302G>CSubstitution - Missense
C16orf46ENSG00000166455ENST00000299578p.V382Mc.1144G>ASubstitution - Missense
C16orf46ENSG00000166455ENST00000378611p.?c.1143+1G>AUnknown
WWOXENSG00000186153ENST00000566780p.A185Tc.553G>ASubstitution - Missense
ENST00000299644p.A28Tc.82G>ASubstitution - Missense
CNTNAP4ENSG00000152910ENST00000307431p.V1281Ac.3842T>CSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000307431p.S42Sc.126C>ASubstitution - coding silent
SKAP1ENSG00000141293ENST00000336915p.V108Ic.322G>ASubstitution - Missense
ZMYND15ENSG00000141497ENST00000433935p.F305Vc.913T>GSubstitution - Missense
ZMYND15ENSG00000141497ENST00000269289p.F305Vc.913T>GSubstitution - Missense
COPZ2ENSG00000005243ENST00000006101p.Y115Yc.345C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.T7137Ac.21409A>GSubstitution - Missense
COL1A1ENSG00000108821ENST00000225964p.R1356Hc.4067G>ASubstitution - Missense
DLX4ENSG00000108813ENST00000240306p.G34Gc.102C>ASubstitution - coding silent
CALCOCO2ENSG00000136436ENST00000258947p.L310Pc.929T>CSubstitution - Missense
PSMB6ENSG00000142507ENST00000270586p.?c.302+4C>TUnknown
ARID3AENSG00000116017ENST00000263620p.?c.951-7C>TUnknown
ZNF317ENSG00000130803ENST00000247956p.E359fs*51c.1071delGDeletion - Frameshift
OR7G1ENSG00000161807ENST00000293614p.N5Nc.15C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.P6711Sc.20131C>TSubstitution - Missense
ENST00000331986p.P2344Sc.7030C>TSubstitution - Missense
ZNF133ENSG00000125846ENST00000377671p.G489Gc.1467C>TSubstitution - coding silent
RRBP1ENSG00000125844ENST00000360807p.A549Vc.1646C>TSubstitution - Missense
RRBP1ENSG00000125844ENST00000377813p.A982Vc.2945C>TSubstitution - Missense
KIF16BENSG00000089177ENST00000354981p.R52Qc.155G>ASubstitution - Missense
PCSK2ENSG00000125851ENST00000262545p.A451Ac.1353C>TSubstitution - coding silent
SNPHENSG00000101298ENST00000381867p.T95Tc.285G>ASubstitution - coding silent
BTBD3ENSG00000132640ENST00000378226p.E462Qc.1384G>CSubstitution - Missense
ENST00000356127p.S5190Cc.15568A>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.?c.24154+3G>AUnknown
ENST00000356127p.?c.24154+3G>AUnknown
XRN2ENSG00000088930ENST00000377191p.R120Mc.359G>TSubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.?c.3414+1_3414+2insGUnknown
RALGAPA2ENSG00000188559ENST00000430436p.?c.2864+1_2864+2insGUnknown
CRNKL1ENSG00000101343ENST00000377340p.?c.1647+9A>GUnknown
RBBP9ENSG00000089050ENST00000337227p.R109Cc.325C>TSubstitution - Missense
FRZBENSG00000162998ENST00000295113p.Y92Yc.276C>TSubstitution - coding silent
OGFOD2ENSG00000111325ENST00000228922p.R285Cc.853C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.A2049Vc.6146C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.A1943Vc.5828C>TSubstitution - Missense
KIAA1467ENSG00000084444ENST00000197268p.D343Vc.1028A>TSubstitution - Missense
OR2T6ENSG00000198104ENST00000355728p.Y60Yc.180C>TSubstitution - coding silent
OR2L5ENSG00000197454ENST00000355281p.F127Fc.381T>CSubstitution - coding silent
OR2L8ENSG00000196936ENST00000357191p.P19Lc.56C>TSubstitution - Missense
OR13G1ENSG00000197437ENST00000359688p.S96Sc.288C>TSubstitution - coding silent
HOOK1ENSG00000134709ENST00000371208p.?c.1626+3A>GUnknown
MAP3K6ENSG00000142733ENST00000493901p.?c.3637+1G>AUnknown
MAP3K6ENSG00000142733ENST00000374040p.?c.3613+1G>AUnknown
SLC9A1ENSG00000090020ENST00000263980p.R700Hc.2099G>ASubstitution - Missense
DHDDSENSG00000117682ENST00000360009p.L300Lc.900G>ASubstitution - coding silent
ARID1AENSG00000117713ENST00000324856p.P427Pc.1281G>ASubstitution - coding silent
CNKSR1ENSG00000142675ENST00000361530p.P506fs*9c.1514_1515insCInsertion - Frameshift
SEPN1ENSG00000162430ENST00000361547p.?c.1092+7G>AUnknown
PTGER3ENSG00000050628ENST00000356595p.L337Lc.1009C>TSubstitution - coding silent
PTGER3ENSG00000050628ENST00000306666p.L337Lc.1009C>TSubstitution - coding silent
GADD45AENSG00000116717ENST00000370986p.H131Yc.391C>TSubstitution - Missense
WDR78ENSG00000152763ENST00000371026p.S159Sc.477C>ASubstitution - coding silent
SGIP1ENSG00000118473ENST00000371039p.T489Tc.1467A>GSubstitution - coding silent
ALG6ENSG00000088035ENST00000371108p.F398fs*2c.1189delTDeletion - Frameshift
INADLENSG00000132849ENST00000371158p.A338Tc.1012G>ASubstitution - Missense
WDR63ENSG00000162643ENST00000294664p.I93fs*37c.271delADeletion - Frameshift
WDR63ENSG00000162643ENST00000294664p.Q421*c.1261C>TSubstitution - Nonsense
LPHN2ENSG00000117114ENST00000359929p.D307Nc.919G>ASubstitution - Missense
LPHN2ENSG00000117114ENST00000370725p.D307Nc.919G>ASubstitution - Missense
CAMTA1ENSG00000171735ENST00000303635p.S1473Gc.4417A>GSubstitution - Missense
ASB17ENSG00000154007ENST00000284142p.T68Tc.204A>TSubstitution - coding silent
LRRIQ3ENSG00000162620ENST00000395089p.V572fs*2c.1707_1708insAInsertion - Frameshift
NM_000957.2p.L337Lc.1009C>TSubstitution - coding silent
KCNH5ENSG00000140015ENST00000322893p.T654Ic.1961C>TSubstitution - Missense
TRMT5ENSG00000126814ENST00000261249p.G122Gc.366C>TSubstitution - coding silent
TIMM9ENSG00000100575ENST00000395159p.Q54Pc.161A>CSubstitution - Missense
C14orf37ENSG00000139971ENST00000267485p.Q613delQc.1837_1839delCAADeletion - In frame
SLC35F4ENSG00000151812ENST00000339762p.?c.696-3T>CUnknown
ENST00000339762_v65p.?c.696-3T>CUnknown
SAMD4AENSG00000020577ENST00000357634p.P402Lc.1205C>TSubstitution - Missense
FERMT2ENSG00000073712ENST00000395631p.?c.158-2A>CUnknown
COL24A1ENSG00000171502ENST00000370571p.N782Nc.2346C>TSubstitution - coding silent
STON2ENSG00000140022ENST00000267540p.S443Yc.1328C>ASubstitution - Missense
MPP5ENSG00000072415ENST00000261681p.D65Dc.195C>TSubstitution - coding silent
FNTBENSG00000257365ENST00000246166p.A258Ac.774G>ASubstitution - coding silent
ZBTB1ENSG00000126804ENST00000394712p.R461Rc.1383G>ASubstitution - coding silent
ZBTB1ENSG00000126804ENST00000358738p.R461Rc.1383G>ASubstitution - coding silent
UNC79ENSG00000133958ENST00000553484p.A418Ac.1254C>TSubstitution - coding silent
BTBD7ENSG00000011114ENST00000334746p.P975Pc.2925C>TSubstitution - coding silent
CATSPERBENSG00000133962ENST00000256343p.Y291Yc.873T>CSubstitution - coding silent
CATSPERBENSG00000133962ENST00000256343p.A1061Vc.3182C>TSubstitution - Missense
C14orf159ENSG00000133943ENST00000523816p.P222Lc.665C>TSubstitution - Missense
PSMC1ENSG00000100764ENST00000261303p.L190fs*9c.567_568insGInsertion - Frameshift
TLN2ENSG00000171914ENST00000306829p.Q956Qc.2868G>ASubstitution - coding silent
TLN2ENSG00000171914ENST00000306829p.T1085Tc.3255G>ASubstitution - coding silent
SERPINA9ENSG00000170054ENST00000546329p.V12Vc.36G>ASubstitution - coding silent
PPP4R4ENSG00000119698ENST00000304338p.?c.117+5G>AUnknown
UNC79ENSG00000133958ENST00000256339p.A241Ac.723C>TSubstitution - coding silent
PLEKHN1ENSG00000187583ENST00000379409p.T189Tc.567G>ASubstitution - coding silent
LARP6ENSG00000166173ENST00000299213p.Q204fs*10c.610delCDeletion - Frameshift
MAP2K1ENSG00000169032ENST00000307102p.H119Yc.355C>TSubstitution - Missense
DENND4AENSG00000174485ENST00000443035p.H1884Qc.5652C>ASubstitution - Missense
DENND4AENSG00000174485ENST00000431932p.H1841Qc.5523C>ASubstitution - Missense
PARP16ENSG00000138617ENST00000261888p.R323Kc.968G>ASubstitution - Missense
IGDCC4ENSG00000103742ENST00000352385p.L1184Fc.3552G>TSubstitution - Missense
IGDCC4ENSG00000103742ENST00000352385p.P1123fs*97c.3363delADeletion - Frameshift
USP24ENSG00000162402ENST00000294383p.P1167fs*12c.3500delCDeletion - Frameshift
XM_371254.3p.P1084fs*12c.3251delCDeletion - Frameshift
MROH7ENSG00000184313ENST00000421030p.?c.3285+1G>AUnknown
ACOT11ENSG00000162390ENST00000343744p.A507Ec.1520C>ASubstitution - Missense
SCP2ENSG00000116171ENST00000371514p.T261Sc.781A>TSubstitution - Missense
SLC5A9ENSG00000117834ENST00000236495p.V375Mc.1123G>ASubstitution - Missense
FANCMENSG00000187790ENST00000267430p.T1339Tc.4017A>GSubstitution - coding silent
KLHL28ENSG00000179454ENST00000396128p.C161Cc.483C>TSubstitution - coding silent
LRFN5ENSG00000165379ENST00000298119p.A600Vc.1799C>TSubstitution - Missense
TRAPPC6BENSG00000182400ENST00000330149p.T122Tc.366G>ASubstitution - coding silent
ENST00000340350p.A147Vc.440C>TSubstitution - Missense
ENSG00000258790ENST00000557565p.W226*c.678G>ASubstitution - Nonsense
RALGAPA1ENSG00000174373ENST00000307138p.T2049Mc.6146C>TSubstitution - Missense
PPAP2BENSG00000162407ENST00000371250p.L88Fc.262C>TSubstitution - Missense
MEF2AENSG00000068305ENST00000453228p.R442Cc.1324C>TSubstitution - Missense
AK7ENSG00000140057ENST00000267584p.K203Kc.609G>ASubstitution - coding silent
ENST00000266524p.N690Kc.2070T>ASubstitution - Missense
PPFIBP1ENSG00000110841ENST00000228425p.R877*c.2629C>TSubstitution - Nonsense
REP15ENSG00000174236ENST00000310791p.A10Tc.28G>ASubstitution - Missense
MRPS35ENSG00000061794ENST00000081029p.Q217*c.649C>TSubstitution - Nonsense
ITPR2ENSG00000123104ENST00000381340p.D2502fs*10c.7499_7500insTInsertion - Frameshift
ITPR2ENSG00000123104ENST00000381340p.E2059Ec.6177G>ASubstitution - coding silent
LRMPENSG00000118308ENST00000354454p.L323Lc.969A>GSubstitution - coding silent
TUBGCP5ENSG00000153575ENST00000283645p.Q830*c.2488C>TSubstitution - Nonsense
SPRR1AENSG00000169474ENST00000368762p.K87Tc.260A>CSubstitution - Missense
FAM60AENSG00000139146ENST00000337682p.M1Lc.1A>TSubstitution - Missense
GON4LENSG00000116580ENST00000437809p.P1428fs*70c.4283delCDeletion - Frameshift
GON4LENSG00000116580ENST00000361040p.P1428fs*65c.4283delCDeletion - Frameshift
GON4LENSG00000116580ENST00000437809p.P1428fs*70c.4283delCDeletion - Frameshift
HCN3ENSG00000143630ENST00000368358p.V759Vc.2277G>ASubstitution - coding silent
ENST00000313929p.G23Gc.69C>ASubstitution - coding silent
EFNA4ENSG00000243364ENST00000368409p.?c.470-1G>AUnknown
ZBTB7BENSG00000160685ENST00000292176p.C137Cc.411C>TSubstitution - coding silent
UBE2Q1ENSG00000160714ENST00000292211p.?c.1074+7C>AUnknown
UBAP2LENSG00000143569ENST00000361546p.N213Kc.639C>ASubstitution - Missense
NUP210LENSG00000143552ENST00000368559p.P80Sc.238C>TSubstitution - Missense
NFASCENSG00000163531ENST00000339876p.Q4*c.10C>TSubstitution - Nonsense
NFASCENSG00000163531ENST00000403080p.Q4*c.10C>TSubstitution - Nonsense
NM_032105.1p.?c.2811+7G>AUnknown
NAV1ENSG00000134369ENST00000367296p.?c.3321+1G>AUnknown
NAV1ENSG00000134369ENST00000367296p.A180Vc.539C>TSubstitution - Missense
RFX7ENSG00000181827ENST00000423270p.T748Tc.2244A>GSubstitution - coding silent
MYO5AENSG00000197535ENST00000399231p.D401Nc.1201G>ASubstitution - Missense
ENST00000375089p.A11Sc.31G>TSubstitution - Missense
DLG2ENSG00000150672ENST00000376104p.P395Lc.1184C>TSubstitution - Missense
DLG2ENSG00000150672ENST00000280241p.P329Lc.986C>TSubstitution - Missense
DLG2ENSG00000150672ENST00000398309p.P290Lc.869C>TSubstitution - Missense
PCF11ENSG00000165494ENST00000298281p.S364Lc.1091C>TSubstitution - Missense
PCF11ENSG00000165494ENST00000298281p.S463Lc.1388C>TSubstitution - Missense
ENST00000298047_v61p.S2876Ic.8627G>TSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.A2144Vc.6431C>TSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.V2380Ic.7138G>ASubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.A2418Vc.7253C>TSubstitution - Missense
ENST00000298047_v61p.A2418Vc.7253C>TSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.L926fs*1c.2771delTDeletion - Frameshift
ENST00000298047_v61p.L926fs*1c.2771delTDeletion - Frameshift
DENND5AENSG00000184014ENST00000328194p.Y1176Hc.3526T>CSubstitution - Missense
SCUBE2ENSG00000175356ENST00000309263p.?c.761-5T>CUnknown
SCUBE2ENSG00000175356ENST00000457346p.?c.761-5T>CUnknown
TRIM49CENSG00000204449ENST00000448984p.S428Rc.1284C>ASubstitution - Missense
NCOR2ENSG00000196498ENST00000405201p.V1600Mc.4798G>ASubstitution - Missense
NM_006312.2p.V1607Mc.4819G>ASubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.H1090Hc.3270C>TSubstitution - coding silent
OGFOD2ENSG00000111325ENST00000397389p.R225Cc.673C>TSubstitution - Missense
TBATAENSG00000166220ENST00000299290p.H87Hc.261C>TSubstitution - coding silent
NM_139155.1p.P526fs*70c.1569delGDeletion - Frameshift
HKDC1ENSG00000156510ENST00000354624p.S298Gc.892A>GSubstitution - Missense
LTBP3ENSG00000168056ENST00000322147p.G723Ec.2168G>ASubstitution - Missense
TIGD3ENSG00000173825ENST00000309880p.R47Hc.140G>ASubstitution - Missense
FRMD8ENSG00000126391ENST00000317568p.A54Dc.161C>ASubstitution - Missense
EHD1ENSG00000110047ENST00000359393p.K32Ec.94A>GSubstitution - Missense
APBB1ENSG00000166313ENST00000299402p.A611Tc.1831G>ASubstitution - Missense
PABPC4ENSG00000090621ENST00000372858p.Q581fs*33c.1741delCDeletion - Frameshift
MACF1ENSG00000127603ENST00000360115p.S5801Fc.17402C>TSubstitution - Missense
MTF1ENSG00000188786ENST00000373036p.P433Hc.1298C>ASubstitution - Missense
GNL2ENSG00000134697ENST00000373062p.V347fs*15c.1037_1038insAInsertion - Frameshift
KLC2ENSG00000174996ENST00000394067p.?c.1785+9A>GUnknown
CTSWENSG00000172543ENST00000307886p.P366Lc.1097C>TSubstitution - Missense
SNX32ENSG00000172803ENST00000308342p.?c.786-3T>CUnknown
LHX5ENSG00000089116ENST00000261731p.C64Cc.192C>TSubstitution - coding silent
LHX5ENSG00000089116ENST00000261731p.R46Hc.137G>ASubstitution - Missense
PTCH2ENSG00000117425ENST00000372192p.R931Qc.2792G>ASubstitution - Missense
TCTEX1D4ENSG00000188396ENST00000339355p.R10Hc.29G>ASubstitution - Missense
ENST00000450269_v68p.A140Vc.419C>TSubstitution - Missense
BTBD19ENSG00000222009ENST00000450269p.A140Vc.419C>TSubstitution - Missense
RNF220ENSG00000187147ENST00000361799p.P90fs*15c.264delCDeletion - Frameshift
PTPRFENSG00000142949ENST00000359947p.G1844Sc.5530G>ASubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.P32fs*57c.90delCDeletion - Frameshift
SCMH1ENSG00000010803ENST00000337495p.K385Ec.1153A>GSubstitution - Missense
SCMH1ENSG00000010803ENST00000372597p.K328Ec.982A>GSubstitution - Missense
ZNF684ENSG00000117010ENST00000372699p.R198Sc.594G>TSubstitution - Missense
CTPS1ENSG00000171793ENST00000372621p.H365Hc.1095T>CSubstitution - coding silent
KDM2BENSG00000089094ENST00000377069p.V490Mc.1468G>ASubstitution - Missense
SIRT4ENSG00000089163ENST00000202967p.H161Rc.482A>GSubstitution - Missense
PXNENSG00000089159ENST00000228307p.F397Fc.1191C>TSubstitution - coding silent
CITENSG00000122966ENST00000261833p.E860Ec.2580G>ASubstitution - coding silent
SU_CRIKp.E903Ec.2709G>ASubstitution - coding silent
CITENSG00000122966ENST00000392521p.A1144Vc.3431C>TSubstitution - Missense
CITENSG00000122966ENST00000261833p.A1102Vc.3305C>TSubstitution - Missense
TAOK3ENSG00000135090ENST00000419821p.?c.2535+10C>TUnknown
RBM19ENSG00000122965ENST00000392561p.A918Vc.2753C>TSubstitution - Missense
TTF2ENSG00000116830ENST00000369466p.A290Vc.869C>TSubstitution - Missense
PTGFRNENSG00000134247ENST00000393203p.D611Nc.1831G>ASubstitution - Missense
ATP1A1ENSG00000163399ENST00000295598p.G718Dc.2153G>ASubstitution - Missense
IGSF3ENSG00000143061ENST00000369486p.V900Gc.2699T>GSubstitution - Missense
SYCP1ENSG00000198765ENST00000369518p.I873Mc.2619A>GSubstitution - Missense
BCL2L14ENSG00000121380ENST00000308721p.E144Dc.432A>TSubstitution - Missense
BCL2L14ENSG00000121380ENST00000396369p.E144Dc.432A>TSubstitution - Missense
TMEM120BENSG00000188735ENST00000342607p.V165Ac.494T>CSubstitution - Missense
KDM2BENSG00000089094ENST00000377071p.V521Mc.1561G>ASubstitution - Missense
CTSKENSG00000143387ENST00000271651p.N53fs*2c.158delADeletion - Frameshift
ARNTENSG00000143437ENST00000358595p.F787Lc.2359T>CSubstitution - Missense
ARNTENSG00000143437ENST00000358595p.S207Nc.620G>ASubstitution - Missense
RPRD2ENSG00000163125ENST00000369068p.P1272Lc.3815C>TSubstitution - Missense
RPRD2ENSG00000163125ENST00000369068p.P1272Lc.3815C>TSubstitution - Missense
RPRD2ENSG00000163125ENST00000369068p.P772fs*42c.2311delCDeletion - Frameshift
RPRD2ENSG00000163125ENST00000369068p.P772fs*42c.2311delCDeletion - Frameshift
PLEKHO1ENSG00000023902ENST00000369124p.?c.319-2A>CUnknown
HIST2H2ABENSG00000184270ENST00000331128p.R82Hc.245G>ASubstitution - Missense
SFT2D2ENSG00000213064ENST00000271375p.L62Pc.185T>CSubstitution - Missense
TCHHENSG00000159450ENST00000368804p.R1550Cc.4648C>TSubstitution - Missense
SEMA6CENSG00000143434ENST00000341697p.V505fs*37c.1512_1513insTInsertion - Frameshift
TGM7ENSG00000159495ENST00000452443p.V274Mc.820G>ASubstitution - Missense
PLA2G4FENSG00000168907ENST00000382396p.T97Ic.290C>TSubstitution - Missense
CCDC17ENSG00000159588ENST00000343901p.S436Sc.1308A>GSubstitution - coding silent
ENST00000343901_v65p.S436Sc.1308A>GSubstitution - coding silent
SEMA6DENSG00000137872ENST00000316364p.A846Tc.2536G>ASubstitution - Missense
SEMA6DENSG00000137872ENST00000558014p.A784Tc.2350G>ASubstitution - Missense
C1orf194ENSG00000179902ENST00000369949p.R117Kc.350G>ASubstitution - Missense
CASZ1ENSG00000130940ENST00000377022p.T1172Tc.3516G>ASubstitution - coding silent
AMY1CENSG00000187733ENST00000370079p.A307Vc.920C>TSubstitution - Missense
PAMR1ENSG00000149090ENST00000278360p.R364Qc.1091G>ASubstitution - Missense
NAT10ENSG00000135372ENST00000257829p.?c.1735-3C>TUnknown
NM_004284.2p.V724Ic.2170G>ASubstitution - Missense
ANGPTL7ENSG00000171819ENST00000376819p.N253fs*15c.756_757insGInsertion - Frameshift
ENST00000369728p.C68*c.204T>ASubstitution - Nonsense
RBM15ENSG00000162775ENST00000369784p.E746fs*5c.2235_2236insAInsertion - Frameshift
IGSF21ENSG00000117154ENST00000251296p.R453Rc.1359G>ASubstitution - coding silent
HMCN1ENSG00000143341ENST00000271588p.?c.14609-10C>TUnknown
HMCN1ENSG00000143341ENST00000271588p.V2008fs*12c.6021_6022insAInsertion - Frameshift
NBPF14ENSG00000122497ENST00000369219p.G624Dc.1871G>ASubstitution - Missense
NBPF14ENSG00000122497ENST00000310701p.G630Sc.1888G>ASubstitution - Missense
HN1LENSG00000206053ENST00000248098p.G182Vc.545G>TSubstitution - Missense
XYLT1ENSG00000103489ENST00000261381p.?c.914-4C>TUnknown
PTX4ENSG00000251692ENST00000293922p.Q256fs*81c.766delCDeletion - Frameshift
NBL1ENSG00000158747ENST00000289749p.V147Mc.439G>ASubstitution - Missense
DENND1BENSG00000213047ENST00000367396p.Y134Hc.400T>CSubstitution - Missense
ACSM1ENSG00000166743ENST00000307493p.V317fs*7c.949delGDeletion - Frameshift
ACSM2AENSG00000183747ENST00000396104p.R438*c.1312C>TSubstitution - Nonsense
HS3ST6ENSG00000162040ENST00000443547p.R150Qc.449G>ASubstitution - Missense
SYT17ENSG00000103528ENST00000355377p.V320Mc.958G>ASubstitution - Missense
SMG1ENSG00000157106ENST00000446231p.P3579Pc.10737A>CSubstitution - coding silent
NM_015133.2p.D1304Dc.3912C>TSubstitution - coding silent
MAPK8IP3ENSG00000138834ENST00000250894p.D1298Dc.3894C>TSubstitution - coding silent
KIAA1217ENSG00000120549ENST00000376454p.K1307Tc.3920A>CSubstitution - Missense
SPAG6ENSG00000077327ENST00000376624p.L37Mc.109C>ASubstitution - Missense
TRDMT1ENSG00000107614ENST00000377799p.R289Rc.867G>ASubstitution - coding silent
FAM107BENSG00000065809ENST00000181796p.S174Ic.521G>TSubstitution - Missense
SRSF5ENSG00000100650ENST00000553521p.A74Vc.221C>TSubstitution - Missense
EXD2ENSG00000081177ENST00000312994p.L587Mc.1759C>ASubstitution - Missense
DCAF5ENSG00000139990ENST00000341516p.G9fs*3c.26delGDeletion - Frameshift
PDSS1ENSG00000148459ENST00000376215p.A135Tc.403G>ASubstitution - Missense
GPR158ENSG00000151025ENST00000376351p.G1017Sc.3049G>ASubstitution - Missense
VIPAS39ENSG00000151445ENST00000343765p.?c.382+2T>CUnknown
TMEM63CENSG00000165548ENST00000298351p.V227Vc.681G>ASubstitution - coding silent
ESRRBENSG00000119715ENST00000380887p.A110Vc.329C>TSubstitution - Missense
MLH3ENSG00000119684ENST00000355774p.M181Ic.543G>ASubstitution - Missense
ABCD4ENSG00000119688ENST00000356924p.T449Tc.1347G>ASubstitution - coding silent
LTBP2ENSG00000119681ENST00000261978p.R1640Hc.4919G>ASubstitution - Missense
ABCD4ENSG00000119688ENST00000356924p.T466Ac.1396A>GSubstitution - Missense
CIITAENSG00000179583ENST00000324288p.A887Vc.2660C>TSubstitution - Missense
CLEC16AENSG00000038532ENST00000409790p.D341Nc.1021G>ASubstitution - Missense
IGF1RENSG00000140443ENST00000268035p.E991Ec.2973G>ASubstitution - coding silent
CHD2ENSG00000173575ENST00000394196p.V175fs*18c.522_523insAInsertion - Frameshift
C10orf71ENSG00000177354ENST00000323868p.?c.2075-6_2075-1delacacacUnknown
FAM170BENSG00000172538ENST00000311787p.P47Sc.139C>TSubstitution - Missense
RBP3ENSG00000107618ENST00000224600p.V829Vc.2487C>TSubstitution - coding silent
RBP3ENSG00000107618ENST00000224600p.L764Lc.2290C>TSubstitution - coding silent
ENST00000440800p.D66Dc.198C>TSubstitution - coding silent
FAM208BENSG00000108021ENST00000328090p.T1332Rc.3995C>GSubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.I1940Ic.5820T>CSubstitution - coding silent
TUBAL3ENSG00000178462ENST00000380419p.T356Ic.1067C>TSubstitution - Missense
CSTF2TENSG00000177613ENST00000331173p.M433Tc.1298T>CSubstitution - Missense
SLC18A3ENSG00000187714ENST00000374115p.A496Vc.1487C>TSubstitution - Missense
PRR26ENSG00000180525ENST00000441152p.G146Wc.436G>TSubstitution - Missense
TACR3ENSG00000169836ENST00000304883p.A91Ac.273G>ASubstitution - coding silent
ENST00000242475p.F45Cc.134T>GSubstitution - Missense
CCDC88BENSG00000168071ENST00000359902p.P549Pc.1647G>ASubstitution - coding silent
CHRM1ENSG00000168539ENST00000306960p.E397Kc.1189G>ASubstitution - Missense
ASCC1ENSG00000138303ENST00000545550p.R282Cc.844C>TSubstitution - Missense
CHST3ENSG00000122863ENST00000373115p.A182Vc.545C>TSubstitution - Missense
CDH23ENSG00000107736ENST00000461841p.?c.1269+9C>TUnknown
MPZENSG00000158887ENST00000360451p.E252fs*>7c.754delGDeletion - Frameshift
KLHDC9ENSG00000162755ENST00000392192p.A192Vc.575C>TSubstitution - Missense
PLEKHM2ENSG00000116786ENST00000375799p.C933Cc.2799C>TSubstitution - coding silent
ENST00000310358p.T280Tc.840C>TSubstitution - coding silent
GLB1L3ENSG00000166105ENST00000431683p.T81Ac.241A>GSubstitution - Missense
OPCMLENSG00000183715ENST00000331898p.T299Tc.897G>ASubstitution - coding silent
ST14ENSG00000149418ENST00000278742p.?c.1015+5G>AUnknown
ZBTB44ENSG00000196323ENST00000397753p.Q541Rc.1622A>GSubstitution - Missense
LRRC52ENSG00000162763ENST00000294818p.R296Qc.887G>ASubstitution - Missense
PBX1ENSG00000185630ENST00000420696p.V414Lc.1240G>TSubstitution - Missense
ARHGEF19ENSG00000142632ENST00000270747p.V644Ic.1930G>ASubstitution - Missense
CLCNKAENSG00000186510ENST00000331433p.T577Ic.1730C>TSubstitution - Missense
SPTY2D1ENSG00000179119ENST00000336349p.R174Gc.520A>GSubstitution - Missense
SYT8ENSG00000149043ENST00000381968p.C120Yc.359G>ASubstitution - Missense
MRGPRX3ENSG00000179826ENST00000396275p.L74Lc.222C>ASubstitution - coding silent
MRGPRX3ENSG00000179826ENST00000396275p.L226Ic.676C>ASubstitution - Missense
PIK3C2AENSG00000011405ENST00000265970p.C711Cc.2133T>CSubstitution - coding silent
C11orf58ENSG00000110696ENST00000228136p.A4Ac.12C>TSubstitution - coding silent
DUSP8ENSG00000184545ENST00000397374p.G3Ec.8G>ASubstitution - Missense
PDE3BENSG00000152270ENST00000282096p.P826Sc.2476C>TSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.M787Vc.2359A>GSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.S1113Sc.3339T>ASubstitution - coding silent
TDRD5ENSG00000162782ENST00000444136p.?c.2161-5A>GUnknown
ABL2ENSG00000143322ENST00000502732p.V345Ac.1034T>CSubstitution - Missense
ABL2ENSG00000143322ENST00000512653p.V330Ac.989T>CSubstitution - Missense
PAPPA2ENSG00000116183ENST00000367662p.L1499Lc.4497G>TSubstitution - coding silent
CPSF6ENSG00000111605ENST00000435070p.L144Ic.430T>ASubstitution - Missense
GNB3ENSG00000111664ENST00000229264p.A106Vc.317C>TSubstitution - Missense
CD4ENSG00000010610ENST00000011653p.D255Dc.765C>TSubstitution - coding silent
DYRK2ENSG00000127334ENST00000344096p.K459Nc.1377G>TSubstitution - Missense
ENST00000299218p.A920Ac.2760A>GSubstitution - coding silent
ACRBPENSG00000111644ENST00000229243p.E351Dc.1053G>TSubstitution - Missense
FAM129AENSG00000135842ENST00000367511p.E612Dc.1836G>TSubstitution - Missense
TSEN15ENSG00000198860ENST00000361641p.?c.495+1G>AUnknown
LAMC2ENSG00000058085ENST00000264144p.Y250fs*14c.747delCDeletion - Frameshift
GLIPR1L2ENSG00000180481ENST00000550916p.D50Nc.148G>ASubstitution - Missense
PEX5ENSG00000139197ENST00000434354p.L82Lc.246G>ASubstitution - coding silent
TRHDEENSG00000072657ENST00000261180p.Q215Rc.644A>GSubstitution - Missense
CNOT2ENSG00000111596ENST00000229195p.?c.1622_1623delAAUnknown
ATN1ENSG00000111676ENST00000396684p.P534Pc.1602C>ASubstitution - coding silent
FOXR1ENSG00000176302ENST00000317011p.A22Tc.64G>ASubstitution - Missense
DSCAML1ENSG00000177103ENST00000321322p.A202Vc.605C>TSubstitution - Missense
DSCAML1ENSG00000177103ENST00000321322p.R1317Hc.3950G>ASubstitution - Missense
CADM1ENSG00000182985ENST00000452722p.V52Mc.154G>ASubstitution - Missense
USP28ENSG00000048028ENST00000003302p.E537Kc.1609G>ASubstitution - Missense
ENST00000338832_v65p.?c.386+9C>TUnknown
DYNC2H1ENSG00000187240ENST00000398093p.P1694Lc.5081C>TSubstitution - Missense
DYNC2H1ENSG00000187240ENST00000334267p.P867Lc.2600C>TSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.R646Wc.1936C>TSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.R646Wc.1936C>TSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.H1666Hc.4998C>TSubstitution - coding silent
DKK3ENSG00000050165ENST00000396505p.R66Cc.196C>TSubstitution - Missense
ARHGEF12ENSG00000196914ENST00000397843p.T798Tc.2394T>CSubstitution - coding silent
USP2ENSG00000036672ENST00000525735p.T327Tc.981C>TSubstitution - coding silent
ARHGAP20ENSG00000137727ENST00000260283p.S153Tc.457T>ASubstitution - Missense
ZC3H12CENSG00000149289ENST00000278590p.S597Sc.1791A>GSubstitution - coding silent
MUC2ENSG00000198788ENST00000441003p.W1308*c.3924G>ASubstitution - Nonsense
CASP1ENSG00000137752ENST00000533400p.P290Tc.868C>ASubstitution - Missense
CSTF3ENSG00000176102ENST00000323959p.V168Ac.503T>CSubstitution - Missense
FIBINENSG00000176971ENST00000318627p.G31Vc.92G>TSubstitution - Missense
C11orf21ENSG00000110665ENST00000456145p.E36*c.106G>TSubstitution - Nonsense
KCNC4ENSG00000116396ENST00000438661p.R516fs*17c.1541delCDeletion - Frameshift
GSTM5ENSG00000134201ENST00000256593p.K94Qc.280A>CSubstitution - Missense
SYPL2ENSG00000143028ENST00000369872p.G81Dc.242G>ASubstitution - Missense
HALENSG00000084110ENST00000261208p.L54Fc.160C>TSubstitution - Missense
NTN4ENSG00000074527ENST00000343702p.V426fs*44c.1276delGDeletion - Frameshift
NR2C1ENSG00000120798ENST00000333003p.R164Hc.491G>ASubstitution - Missense
NR2C1ENSG00000120798ENST00000330677p.R164Hc.491G>ASubstitution - Missense
PANK4ENSG00000157881ENST00000378466p.A573Ac.1719C>TSubstitution - coding silent
ENST00000374536p.S625Sc.1875G>ASubstitution - coding silent
ABLIM1ENSG00000099204ENST00000392952p.I222Ic.666C>TSubstitution - coding silent
TDRD1ENSG00000095627ENST00000251864p.?c.2494+10A>TUnknown
NRAPENSG00000197893ENST00000359988p.A1701fs*18c.5098_5099insAInsertion - Frameshift
TCF7L2ENSG00000148737ENST00000543371p.A139Vc.416C>TSubstitution - Missense
DUSP5ENSG00000138166ENST00000369583p.L32Lc.96G>ASubstitution - coding silent
ZNF695ENSG00000197472ENST00000339986p.Q201Rc.602A>GSubstitution - Missense
ZNF670ENSG00000135747ENST00000366503p.K316Nc.948A>CSubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.P1440Lc.4319C>TSubstitution - Missense
HTRA1ENSG00000166033ENST00000368984p.R190Hc.569G>ASubstitution - Missense
TACC2ENSG00000138162ENST00000369005p.P1903Sc.5707C>TSubstitution - Missense
WDR11ENSG00000120008ENST00000263461p.W777Cc.2331G>TSubstitution - Missense
PDZD8ENSG00000165650ENST00000334464p.S549Rc.1645A>CSubstitution - Missense
PDZD8ENSG00000165650ENST00000334464p.Q475Lc.1424A>TSubstitution - Missense
ENO4ENSG00000188316ENST00000341276p.H345fs*21c.1023delADeletion - Frameshift
PNLIPRP1ENSG00000187021ENST00000358834p.P466Pc.1398C>TSubstitution - coding silent
CALHM1ENSG00000185933ENST00000329905p.L170Lc.508C>TSubstitution - coding silent
PDCD11ENSG00000148843ENST00000369797p.P481Rc.1442C>GSubstitution - Missense
CALHM2ENSG00000138172ENST00000260743p.R124Cc.370C>TSubstitution - Missense
CNNM2ENSG00000148842ENST00000369878p.A202Tc.604G>ASubstitution - Missense
PSDENSG00000059915ENST00000020673p.G684Dc.2051G>ASubstitution - Missense
NM_002779.2p.C469Yc.1406G>ASubstitution - Missense
DNMBPENSG00000107554ENST00000324109p.N961Sc.2882A>GSubstitution - Missense
HPSE2ENSG00000172987ENST00000370552p.Q413Rc.1238A>GSubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.C171Yc.512G>ASubstitution - Missense
HPS1ENSG00000107521ENST00000325103p.Q442Qc.1326G>ASubstitution - coding silent
GAS2L3ENSG00000139354ENST00000266754p.G172Rc.514G>ASubstitution - Missense
ANO4ENSG00000151572ENST00000538618p.A145Vc.434C>TSubstitution - Missense
NR1H4ENSG00000012504ENST00000551379p.G210Gc.630C>TSubstitution - coding silent
CNTN5ENSG00000149972ENST00000528682p.Q486Qc.1458A>GSubstitution - coding silent
WEE1ENSG00000166483ENST00000450114p.A365Tc.1093G>ASubstitution - Missense
C12orf42ENSG00000179088ENST00000548883p.?c.148-1G>AUnknown
DCLK1ENSG00000133083ENST00000255448p.S307Sc.921C>TSubstitution - coding silent
DCLK1ENSG00000133083ENST00000255448p.S307Sc.921C>TSubstitution - coding silent
HMGB1ENSG00000189403ENST00000405805p.F19fs*57c.57delTDeletion - Frameshift
FMO4ENSG00000076258ENST00000367749p.G38Gc.114G>ASubstitution - coding silent
FMO4ENSG00000076258ENST00000367749p.?c.322-10T>CUnknown
FMO6PENSG00000117507ENST00000236166p.P364Qc.1091C>ASubstitution - Missense
TRPC4ENSG00000133107ENST00000379705p.Y295Cc.884A>GSubstitution - Missense
TRPC4ENSG00000133107ENST00000379705p.?c.2211+2T>AUnknown
CCNA1ENSG00000133101ENST00000255465p.R354Qc.1061G>ASubstitution - Missense
BSDC1ENSG00000160058ENST00000373520p.E295Qc.883G>CSubstitution - Missense
PTPRUENSG00000060656ENST00000345512p.A765Sc.2293G>TSubstitution - Missense
PTPRUENSG00000060656ENST00000460170p.A765Sc.2293G>TSubstitution - Missense
PTPRUENSG00000060656ENST00000460170p.A765Sc.2293G>TSubstitution - Missense
SUCOENSG00000094975ENST00000367723p.A233Ac.699G>ASubstitution - coding silent
CSF3RENSG00000119535ENST00000373103p.T640Ac.1918A>GSubstitution - Missense
CSF3RENSG00000119535ENST00000373104p.T640Ac.1918A>GSubstitution - Missense
STK40ENSG00000196182ENST00000359297p.P242Pc.726C>TSubstitution - coding silent
ADPRHL2ENSG00000116863ENST00000373178p.D350Nc.1048G>ASubstitution - Missense
AGO4ENSG00000134698ENST00000373210p.Y178Hc.532T>CSubstitution - Missense
ADCENSG00000142920ENST00000398167p.S168Nc.503G>ASubstitution - Missense
YARSENSG00000134684ENST00000373477p.H466Hc.1398C>TSubstitution - coding silent
KCNJ9ENSG00000162728ENST00000368088p.A67Tc.199G>ASubstitution - Missense
OTUD7AENSG00000169918ENST00000307050p.T38Mc.113C>TSubstitution - Missense
GOLGA6L2ENSG00000174450ENST00000567107p.Q231Kc.691C>ASubstitution - Missense
GOLGA6L2ENSG00000174450ENST00000312015p.Q231Kc.691C>ASubstitution - Missense
NDNENSG00000182636ENST00000331837p.A180Vc.539C>TSubstitution - Missense
SPENENSG00000065526ENST00000375759p.G666*c.1996G>TSubstitution - Nonsense
ANKRD33ENSG00000167612ENST00000301190p.T167Tc.501G>ASubstitution - coding silent
KCNA1ENSG00000111262ENST00000382545p.V182Ac.545T>CSubstitution - Missense
BNC1ENSG00000169594ENST00000345382p.R792Rc.2376T>CSubstitution - coding silent
IL16ENSG00000172349ENST00000302987p.K15fs*9c.42delADeletion - Frameshift
KIAA1199ENSG00000103888ENST00000356249p.?c.1588-10C>TUnknown
ADAMTS7ENSG00000136378ENST00000388820p.S524Sc.1572T>CSubstitution - coding silent
MORF4L1ENSG00000185787ENST00000331268p.E167Kc.499G>ASubstitution - Missense
ACSBG1ENSG00000103740ENST00000258873p.K357Kc.1071G>ASubstitution - coding silent
FANCIENSG00000140525ENST00000310775p.E1147Kc.3439G>ASubstitution - Missense
POLGENSG00000140521ENST00000268124p.Q1023*c.3067C>TSubstitution - Nonsense
HAPLN3ENSG00000140511ENST00000359595p.Q359Qc.1077G>ASubstitution - coding silent
ENST00000268134p.G1846Gc.5538C>TSubstitution - coding silent
ACANENSG00000157766ENST00000439576p.G1846Gc.5538C>TSubstitution - coding silent
MRPL46ENSG00000259494ENST00000312475p.E108Kc.322G>ASubstitution - Missense
KLHL25ENSG00000183655ENST00000337975p.Y361Yc.1083C>TSubstitution - coding silent
SH3GL3ENSG00000140600ENST00000324537p.I344Vc.1030A>GSubstitution - Missense
OLFML1ENSG00000183801ENST00000329293p.R6Qc.17G>ASubstitution - Missense
ENSG00000187811ENST00000343767p.H41Hc.123C>TSubstitution - coding silent
ENST00000343767_v68p.H41Hc.123C>TSubstitution - coding silent
PEX11AENSG00000166821ENST00000300056p.Q69Hc.207G>TSubstitution - Missense
ENSG00000187811ENST00000343767p.L134fs*>13c.400_401insCInsertion - Frameshift
ENST00000343767_v68p.L134fs*>13c.400_401insCInsertion - Frameshift
EDRF1ENSG00000107938ENST00000356792p.A900Vc.2699C>TSubstitution - Missense
EDRF1ENSG00000107938ENST00000337623p.A866Vc.2597C>TSubstitution - Missense
CDC42BPBENSG00000198752ENST00000361246p.G1389Dc.4166G>ASubstitution - Missense
ZNF839ENSG00000022976ENST00000442396p.A516Tc.1546G>ASubstitution - Missense
CYP2E1ENSG00000130649ENST00000252945p.T290Tc.870C>ASubstitution - coding silent
NM_002412.1p.G156Cc.466G>TSubstitution - Missense
PTPREENSG00000132334ENST00000254667p.G416Cc.1246G>TSubstitution - Missense
OR4K13ENSG00000176253ENST00000315693p.C303fs*>2c.906_907delCTDeletion - Frameshift
C14orf79ENSG00000140104ENST00000547315p.P312Sc.934C>TSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.R2952Kc.8855G>ASubstitution - Missense
CEP170BENSG00000099814ENST00000414716p.D621delDc.1861_1863delGACDeletion - In frame
INF2ENSG00000203485ENST00000392634p.R234*c.700C>TSubstitution - Nonsense
INF2ENSG00000203485ENST00000392634p.R234*c.700C>TSubstitution - Nonsense
DHRS2ENSG00000100867ENST00000250383p.E249Kc.745G>ASubstitution - Missense
HOMEZENSG00000215271ENST00000357460p.S205Sc.615A>GSubstitution - coding silent
CDH24ENSG00000139880ENST00000487137p.P674fs*>108c.2020_2021delCCDeletion - Frameshift
ABHD4ENSG00000100439ENST00000428304p.R305Qc.914G>ASubstitution - Missense
CHD8ENSG00000100888ENST00000430710p.R1164Cc.3490C>TSubstitution - Missense
CHD8ENSG00000100888ENST00000399982p.R1443Cc.4327C>TSubstitution - Missense
GZMBENSG00000100453ENST00000382542p.L39Lc.117G>ASubstitution - coding silent
NYNRINENSG00000205978ENST00000382554p.P625Pc.1875C>TSubstitution - coding silent
TM9SF1ENSG00000100926ENST00000261789p.R530Hc.1589G>ASubstitution - Missense
AHNAKENSG00000124942ENST00000257247p.P96Hc.287C>ASubstitution - Missense
TMEM132AENSG00000006118ENST00000005286p.G236fs*21c.702delGDeletion - Frameshift
TMEM132AENSG00000006118ENST00000005286p.G236fs*21c.702delGDeletion - Frameshift
MS4A10ENSG00000172689ENST00000308287p.D257Dc.771C>TSubstitution - coding silent
CARNS1ENSG00000172508ENST00000307823p.V37Mc.109G>ASubstitution - Missense
PPP1CAENSG00000172531ENST00000312989p.L119Lc.355C>TSubstitution - coding silent
ENST00000451458p.L205Lc.613C>TSubstitution - coding silent
ADRBK1ENSG00000173020ENST00000308595p.A554Ac.1662C>TSubstitution - coding silent
SPTBN2ENSG00000173898ENST00000309996p.I929Tc.2786T>CSubstitution - Missense
SPTBN2ENSG00000173898ENST00000309996p.S2138Nc.6413G>ASubstitution - Missense
SPTBN2ENSG00000173898ENST00000309996p.L1584Lc.4752G>ASubstitution - coding silent
RBM14ENSG00000239306ENST00000310137p.?c.1802+6G>AUnknown
ILKENSG00000166333ENST00000299421p.D113Yc.337G>TSubstitution - Missense
GANABENSG00000089597ENST00000346178p.I103Tc.308T>CSubstitution - Missense
NADSYN1ENSG00000172890ENST00000319023p.C409fs*111c.1225_1226delTGDeletion - Frameshift
ANO1ENSG00000131620ENST00000355303p.A626Ac.1878G>ASubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.E1091*c.3271G>TSubstitution - Nonsense
RYR2ENSG00000198626ENST00000366574p.R1154Cc.3460C>TSubstitution - Missense
CLECL1ENSG00000184293ENST00000327839p.M154Vc.460A>GSubstitution - Missense
NEDD1ENSG00000139350ENST00000266742p.?c.921+2T>CUnknown
OR8D4ENSG00000181518ENST00000321355p.M114Ic.342G>ASubstitution - Missense
GRAMD1BENSG00000023171ENST00000529750p.P238Pc.714T>CSubstitution - coding silent
GRAMD1BENSG00000023171ENST00000322282p.P238Pc.714T>CSubstitution - coding silent
PRDM10ENSG00000170325ENST00000360871p.H686Hc.2058C>TSubstitution - coding silent
TEAD1ENSG00000187079ENST00000361985p.A284Ac.852C>ASubstitution - coding silent
FEZ1ENSG00000149557ENST00000278919p.?c.1020+5G>AUnknown
AMBRA1ENSG00000110497ENST00000458649p.A1218Ac.3654C>TSubstitution - coding silent
OR52I2ENSG00000226288ENST00000312614p.S194Nc.581G>ASubstitution - Missense
OR52I1ENSG00000232268ENST00000450052p.T182Ic.545C>TSubstitution - Missense
DGKZENSG00000149091ENST00000395574p.D148Dc.444C>TSubstitution - coding silent
RAG1ENSG00000166349ENST00000299440p.L454Lc.1362G>ASubstitution - coding silent
FHAD1ENSG00000142621ENST00000401090p.F204Cc.611T>GSubstitution - Missense
ENST00000402751p.S88Sc.264T>GSubstitution - coding silent
KBTBD4ENSG00000123444ENST00000526005p.F433Sc.1298T>CSubstitution - Missense
MYBPC3ENSG00000134571ENST00000399249p.C443Yc.1328G>ASubstitution - Missense
CD1DENSG00000158473ENST00000368171p.?c.329-9T>GUnknown
CASP9ENSG00000132906ENST00000333868p.?c.869-4G>AUnknown
FCRL5ENSG00000143297ENST00000361835p.W57*c.171G>ASubstitution - Nonsense
NTRK1ENSG00000198400ENST00000524377p.L585fs*73c.1749delCDeletion - Frameshift
HDGFENSG00000143321ENST00000368206p.D150Dc.450C>TSubstitution - coding silent
LRP1ENSG00000123384ENST00000243077p.M4394Ic.13182G>ASubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.T1868Ic.5603C>TSubstitution - Missense
NAB2ENSG00000166886ENST00000300131p.G187Gc.561C>TSubstitution - coding silent
ENST00000327087_v68p.A559Tc.1675G>ASubstitution - Missense
ANO2ENSG00000047617ENST00000546188p.A560Tc.1678G>ASubstitution - Missense
OR10J1ENSG00000196184ENST00000423932p.F115fs*2c.340delTDeletion - Frameshift
IFI16ENSG00000163565ENST00000368131p.E85fs*3c.247delADeletion - Frameshift
IFI16ENSG00000163565ENST00000295809p.E85fs*3c.247delADeletion - Frameshift
DNAJC16ENSG00000116138ENST00000375847p.Q428*c.1282C>TSubstitution - Nonsense
DNAJC16ENSG00000116138ENST00000375847p.A207Tc.619G>ASubstitution - Missense
VAMP1ENSG00000139190ENST00000396308p.?c.340+4_340+7delagtaUnknown
VWFENSG00000110799ENST00000261405p.F937Lc.2809T>CSubstitution - Missense
VWFENSG00000110799ENST00000261405p.G64fs*19c.191delGDeletion - Frameshift
MARCH9ENSG00000139266ENST00000548358p.R185Hc.554G>ASubstitution - Missense
GLI1ENSG00000111087ENST00000228682p.P202Pc.606C>GSubstitution - coding silent
MGAT4CENSG00000182050ENST00000332156p.K98Ec.292A>GSubstitution - Missense
MGAT4CENSG00000182050ENST00000332156p.I453Mc.1359A>GSubstitution - Missense
C3AR1ENSG00000171860ENST00000307637p.N319Sc.956A>GSubstitution - Missense
B4GALNT3ENSG00000139044ENST00000266383p.R403Wc.1207C>TSubstitution - Missense
NCAPD2ENSG00000010292ENST00000315579p.M237Ic.711G>ASubstitution - Missense
CCSAPENSG00000154429ENST00000366687p.A206Vc.617C>TSubstitution - Missense
TRIM17ENSG00000162931ENST00000456946p.?c.756+6C>TUnknown
OBSCNENSG00000154358ENST00000570156p.R3417Pc.10250G>CSubstitution - Missense
KCNK1ENSG00000135750ENST00000366621p.?c.751+6T>CUnknown
DISC1ENSG00000162946ENST00000366636p.P437Pc.1311G>ASubstitution - coding silent
ENST00000366638p.P469Pc.1407G>ASubstitution - coding silent
C1orf131ENSG00000143633ENST00000366649p.S12Lc.35C>TSubstitution - Missense
CAPN9ENSG00000135773ENST00000271971p.V144Mc.430G>ASubstitution - Missense
CAPN9ENSG00000135773ENST00000354537p.?c.1713+9C>TUnknown
PLEKHA5ENSG00000052126ENST00000429027p.T1160fs*2c.3470_3471insAInsertion - Frameshift
PLCZ1ENSG00000139151ENST00000266505p.E118Kc.352G>ASubstitution - Missense
STRAPENSG00000023734ENST00000419869p.S153Nc.458G>ASubstitution - Missense
ATF7IPENSG00000171681ENST00000261168p.?c.1996-1G>AUnknown
GOLGA3ENSG00000090615ENST00000204726p.S570Pc.1708T>CSubstitution - Missense
GOLGA3ENSG00000090615ENST00000545875p.S570Pc.1708T>CSubstitution - Missense
GOLGA3ENSG00000090615ENST00000204726p.T186Tc.558G>TSubstitution - coding silent
P2RX2ENSG00000187848ENST00000343948p.R46Hc.137G>ASubstitution - Missense
DDX51ENSG00000185163ENST00000397333p.Q584fs*3c.1750delCDeletion - Frameshift
CCDC65ENSG00000139537ENST00000320516p.I265fs*21c.793_794insAInsertion - Frameshift
ADCY6ENSG00000174233ENST00000307885p.A1013Tc.3037G>ASubstitution - Missense
CMASENSG00000111726ENST00000229329p.G165*c.493G>TSubstitution - Nonsense
SLCO1B1ENSG00000134538ENST00000256958p.K399fs*4c.1192delADeletion - Frameshift
NR4A1ENSG00000123358ENST00000360284p.S92Sc.276C>ASubstitution - coding silent
NR4A1ENSG00000123358ENST00000243050p.S79Sc.237C>ASubstitution - coding silent
ENST00000338294p.?c.207+4C>TUnknown
FAM219BENSG00000178761ENST00000357635p.C187Cc.561C>TSubstitution - coding silent
ISLR2ENSG00000167178ENST00000361742p.R150Hc.449G>ASubstitution - Missense
CD276ENSG00000103855ENST00000318443p.V76Ac.227T>CSubstitution - Missense
CD276ENSG00000103855ENST00000318443p.G451Sc.1351G>ASubstitution - Missense
LRCH1ENSG00000136141ENST00000389798p.L162Mc.484C>ASubstitution - Missense
SERP2ENSG00000151778ENST00000379179p.A53Vc.158C>TSubstitution - Missense
MTRF1ENSG00000120662ENST00000379477p.?c.988+9G>AUnknown
ACACBENSG00000076555ENST00000543201p.L817Lc.2449C>TSubstitution - coding silent
UNGENSG00000076248ENST00000242576p.G304Dc.911G>ASubstitution - Missense
RIC8BENSG00000111785ENST00000392839p.?c.85-9C>TUnknown
CLN5ENSG00000102805ENST00000377453p.P382Pc.1146T>CSubstitution - coding silent
DTX1ENSG00000135144ENST00000257600p.Y424Yc.1272C>TSubstitution - coding silent
TAS2R30ENSG00000256188ENST00000539585p.L108Rc.323T>GSubstitution - Missense
HECTD4ENSG00000173064ENST00000377560p.Q556Rc.1667A>GSubstitution - Missense
HECTD4ENSG00000173064ENST00000377560p.S489Rc.1465A>CSubstitution - Missense
ENST00000377560_v62p.P2478Pc.7434G>ASubstitution - coding silent
DCTENSG00000080166ENST00000446125p.V466Vc.1398T>CSubstitution - coding silent
DCTENSG00000080166ENST00000377028p.V433Vc.1299T>CSubstitution - coding silent
SLITRK5ENSG00000165300ENST00000325089p.L179Lc.537G>ASubstitution - coding silent
GPC5ENSG00000179399ENST00000377067p.L226Lc.678G>ASubstitution - coding silent
EDNRBENSG00000136160ENST00000334286p.G9Gc.27A>GSubstitution - coding silent
PFKPENSG00000067057ENST00000381125p.?c.2022+6C>AUnknown
PFKPENSG00000067057ENST00000381075p.?c.1998+6C>AUnknown
PFKPENSG00000067057ENST00000433193p.?c.80+6C>AUnknown
ZEB1ENSG00000148516ENST00000320985p.Q717*c.2149C>TSubstitution - Nonsense
ENST00000375328p.A40Vc.119C>TSubstitution - Missense
KIAA1462ENSG00000165757ENST00000375377p.A763Vc.2288C>TSubstitution - Missense
ALPLENSG00000162551ENST00000374832p.M312Ic.936G>ASubstitution - Missense
C10orf10ENSG00000165507ENST00000298295p.R77Cc.229C>TSubstitution - Missense
ZNF487ENSG00000243660ENST00000431662p.D220Ec.660T>GSubstitution - Missense
ZNF25ENSG00000175395ENST00000302609p.T251fs*131c.751delADeletion - Frameshift
ZNF37AENSG00000075407ENST00000361085p.K465fs*5c.1386_1387delAGDeletion - Frameshift
HSPG2ENSG00000142798ENST00000374695p.D3681Nc.11041G>ASubstitution - Missense
BPNT1ENSG00000162813ENST00000322067p.D89Nc.265G>ASubstitution - Missense
ENST00000438638p.P6fs*18c.11delCDeletion - Frameshift
CAMK2GENSG00000148660ENST00000351293p.R75Rc.225C>TSubstitution - coding silent
ENST00000409178_v68p.L92Sc.275T>CSubstitution - Missense
C10orf55ENSG00000222047ENST00000409178p.L92Sc.275T>CSubstitution - Missense
ZSWIM8ENSG00000214655ENST00000398706p.Y1701fs*3c.5100_5101insCInsertion - Frameshift
ZSWIM8ENSG00000214655ENST00000398706p.Y1081fs*3c.3240_3241insCInsertion - Frameshift
PPP3CBENSG00000107758ENST00000360663p.V183Fc.547G>TSubstitution - Missense
NM_152586.2p.P375Sc.1123C>TSubstitution - Missense
ANXA7ENSG00000138279ENST00000372919p.M341Tc.1022T>CSubstitution - Missense
PRSS38ENSG00000185888ENST00000366757p.A50Ac.150C>ASubstitution - coding silent
WAPALENSG00000062650ENST00000298767p.D316Dc.948C>TSubstitution - coding silent
SH2D4BENSG00000178217ENST00000470604p.R389Hc.1166G>ASubstitution - Missense
NRG3ENSG00000185737ENST00000372141p.K273fs*34c.817delADeletion - Frameshift
TAF3ENSG00000165632ENST00000344293p.E782fs*67c.2339delCDeletion - Frameshift
ZMIZ1ENSG00000108175ENST00000334512p.?c.1230+9A>CUnknown
EXOC6ENSG00000138190ENST00000260762p.I771Ic.2313A>TSubstitution - coding silent
EXOC6ENSG00000138190ENST00000371552p.I766Ic.2298A>TSubstitution - coding silent
ENST00000318333p.M1Tc.2T>CSubstitution - Missense
MICAL2ENSG00000133816ENST00000256194p.R384Qc.1151G>ASubstitution - Missense
MICAL2ENSG00000133816ENST00000379612p.R384Qc.1151G>ASubstitution - Missense
CRTAC1ENSG00000095713ENST00000370597p.G240fs*84c.719delGDeletion - Frameshift
ZDHHC16ENSG00000171307ENST00000393760p.V44Ac.131T>CSubstitution - Missense
TLL2ENSG00000095587ENST00000357947p.K638Kc.1914G>ASubstitution - coding silent
ENST00000451649p.F156Lc.468C>ASubstitution - Missense
CC2D2BENSG00000188649ENST00000344386p.F156Lc.468C>ASubstitution - Missense
ROBO4ENSG00000154133ENST00000306534p.R331*c.991C>TSubstitution - Nonsense
ROBO3ENSG00000154134ENST00000397801p.F594Vc.1780T>GSubstitution - Missense
TBRG1ENSG00000154144ENST00000441174p.A289Vc.866C>TSubstitution - Missense
OR10G4ENSG00000254737ENST00000320891p.F103fs*32c.303delTDeletion - Frameshift
JAKMIP1ENSG00000152969ENST00000409021p.R606fs*6c.1816_1817delAGDeletion - Frameshift
TADA3ENSG00000171148ENST00000301964p.P309Pc.927G>ASubstitution - coding silent
EPHA6ENSG00000080224ENST00000389672p.H393Hc.1179C>TSubstitution - coding silent
SU_EPHA6p.H299Hc.897C>TSubstitution - coding silent
ENST00000338994p.H299Hc.897C>TSubstitution - coding silent
SCLT1ENSG00000151466ENST00000281142p.A541fs*11c.1620_1621insAInsertion - Frameshift
PCDH10ENSG00000138650ENST00000264360p.A494Tc.1480G>ASubstitution - Missense
FBXW7ENSG00000109670ENST00000281708p.S668fs*39c.2001delGDeletion - Frameshift
FBXW7ENSG00000109670ENST00000296555p.S550fs*39c.1647delGDeletion - Frameshift
XCR1ENSG00000173578ENST00000309285p.Y14fs*33c.40delTDeletion - Frameshift
COL7A1ENSG00000114270ENST00000328333p.R2063Wc.6187C>TSubstitution - Missense
TOPBP1ENSG00000163781ENST00000260810p.F24fs*7c.72delTDeletion - Frameshift
TM4SF4ENSG00000169903ENST00000305354p.F20fs*16c.54delTDeletion - Frameshift
COL6A3ENSG00000163359ENST00000295550p.R768Hc.2303G>ASubstitution - Missense
COL6A3ENSG00000163359ENST00000392004p.R562Hc.1685G>ASubstitution - Missense
IHHENSG00000163501ENST00000295731p.P266fs*99c.797delCDeletion - Frameshift
SLC4A3ENSG00000114923ENST00000273063p.S912fs*83c.2726_2727insCInsertion - Frameshift
TTNENSG00000155657ENST00000342992p.P20679Pc.62037G>ASubstitution - coding silent
ENST00000356127p.P20677Pc.62031G>ASubstitution - coding silent
ZNF880ENSG00000221923ENST00000422689p.K537fs*>41c.1605delADeletion - Frameshift
TUBB4AENSG00000104833ENST00000264071p.F294Fc.882C>TSubstitution - coding silent
ATP2B3ENSG00000067842ENST00000263519p.P1175fs*12c.3518delCDeletion - Frameshift
RHOXF2ENSG00000131721ENST00000371388p.L128fs*44c.376delGDeletion - Frameshift
RP1ENSG00000104237ENST00000220676p.R793fs*55c.2371delADeletion - Frameshift
NRG1ENSG00000157168ENST00000520407p.K306fs*24c.911delADeletion - Frameshift
RNF19AENSG00000034677ENST00000519449p.R63fs*5c.187delADeletion - Frameshift
FER1L6ENSG00000214814ENST00000399018p.G1237fs*10c.3702delADeletion - Frameshift
C7orf63ENSG00000105792ENST00000389297p.K687fs*43c.2055delADeletion - Frameshift
POLMENSG00000122678ENST00000242248p.P97fs*6c.290delCDeletion - Frameshift
TFAP2BENSG00000008196ENST00000393655p.Y74fs*22c.214delCDeletion - Frameshift
JARID2ENSG00000008083ENST00000341776p.P592fs*57c.1770delCDeletion - Frameshift
SIM1ENSG00000112246ENST00000262901p.H270Hc.810C>TSubstitution - coding silent
B2MENSG00000166710ENST00000558401p.Q22*c.64C>TSubstitution - Nonsense
SLC5A1ENSG00000100170ENST00000266088p.R558Hc.1673G>ASubstitution - Missense
DOPEY2ENSG00000142197ENST00000399151p.P583fs*2c.1744delCDeletion - Frameshift
TUBB2BENSG00000137285ENST00000259818p.R391Hc.1172G>ASubstitution - Missense
PUS7ENSG00000091127ENST00000356362p.N333fs*3c.998delADeletion - Frameshift
TMPRSS13ENSG00000137747ENST00000524993p.A330Vc.989C>TSubstitution - Missense
BRCA2ENSG00000139618ENST00000544455p.N1784fs*7c.5345delADeletion - Frameshift
ENST00000319379p.G3585Dc.10754G>ASubstitution - Missense
CD93ENSG00000125810ENST00000246006p.D280fs*19c.838delGDeletion - Frameshift
PCDH11XENSG00000102290ENST00000504220p.R787Cc.2359C>TSubstitution - Missense
GUCY1A2ENSG00000152402ENST00000526355p.S424Fc.1271C>TSubstitution - Missense
DCXENSG00000077279ENST00000356915p.R78Hc.233G>ASubstitution - Missense
PCDHGB2ENSG00000253910ENST00000522605p.R499Wc.1495C>TSubstitution - Missense
XKR4ENSG00000206579ENST00000327381p.R614Qc.1841G>ASubstitution - Missense
LARP1BENSG00000138709ENST00000427266p.R151*c.451C>TSubstitution - Nonsense
RNF43ENSG00000108375ENST00000407977p.S661fs*39c.1977delTDeletion - Frameshift
FLT1ENSG00000102755ENST00000282397p.D1052Nc.3154G>ASubstitution - Missense
HHATENSG00000054392ENST00000367010p.V482Mc.1444G>ASubstitution - Missense
CR2ENSG00000117322ENST00000367057p.R520Hc.1559G>ASubstitution - Missense
ITGA5ENSG00000161638ENST00000293379p.S775Sc.2325G>ASubstitution - coding silent
ITGA5ENSG00000161638ENST00000293379p.V173Gc.518T>GSubstitution - Missense
NCKAP1LENSG00000123338ENST00000293373p.P186Sc.556C>TSubstitution - Missense
HOXC9ENSG00000180806ENST00000303450p.A37Tc.109G>ASubstitution - Missense
TENC1ENSG00000111077ENST00000314276p.M1049Ic.3147G>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.Q1616Rc.4847A>GSubstitution - Missense
KCTD3ENSG00000136636ENST00000259154p.S145Yc.434C>ASubstitution - Missense
FAM71AENSG00000162771ENST00000294829p.L116Sc.347T>CSubstitution - Missense
NEO1ENSG00000067141ENST00000261908p.I766Nc.2297T>ASubstitution - Missense
MUCL1ENSG00000172551ENST00000308796p.?c.58+1G>AUnknown
SH2D7ENSG00000183476ENST00000328828p.?c.1306-7C>TUnknown
SH2D7ENSG00000183476ENST00000328828p.?c.898-7C>TUnknown
SCAPERENSG00000140386ENST00000538941p.R661Gc.1981C>GSubstitution - Missense
NCOA1ENSG00000084676ENST00000406961p.A839Ac.2517G>ASubstitution - coding silent
NCOA1ENSG00000084676ENST00000405141p.A839Ac.2517G>ASubstitution - coding silent
RRP12ENSG00000052749ENST00000370992p.P700Pc.2100C>TSubstitution - coding silent
MKI67ENSG00000148773ENST00000368654p.R505Hc.1514G>ASubstitution - Missense
SPHKAPENSG00000153820ENST00000392056p.V83Vc.249C>ASubstitution - coding silent
XM_051221.5p.V83Vc.249C>ASubstitution - coding silent
LRP2ENSG00000081479ENST00000263816p.R1610Gc.4828A>GSubstitution - Missense
CLEC17AENSG00000187912ENST00000417570p.E22Dc.66G>TSubstitution - Missense
DHPSENSG00000095059ENST00000210060p.R113Cc.337C>TSubstitution - Missense
AURKBENSG00000178999ENST00000585124p.R284Hc.851G>ASubstitution - Missense
POLR2CENSG00000102978ENST00000219252p.R133Qc.398G>ASubstitution - Missense
FAM179BENSG00000198718ENST00000361577p.A54Tc.160G>ASubstitution - Missense
TMEM132DENSG00000151952ENST00000422113p.D157Dc.471C>TSubstitution - coding silent
PRKCDENSG00000163932ENST00000394729p.R6Hc.17G>ASubstitution - Missense
NM_003319p.R966*c.2896C>TSubstitution - Nonsense
UBR4ENSG00000127481ENST00000375254p.D5033Dc.15099C>TSubstitution - coding silent
MED12ENSG00000184634ENST00000374080p.R18Wc.52C>TSubstitution - Missense
MED12ENSG00000184634ENST00000374080p.R18Wc.52C>TSubstitution - Missense
PCDH11XENSG00000102290ENST00000395337p.R787Cc.2359C>TSubstitution - Missense
MAGEB2ENSG00000099399ENST00000378988p.R16Cc.46C>TSubstitution - Missense
MAGEB2ENSG00000099399ENST00000378988p.R16Cc.46C>TSubstitution - Missense
DCXENSG00000077279ENST00000338081p.R159Hc.476G>ASubstitution - Missense
POM121L12ENSG00000221900ENST00000408890p.A165Tc.493G>ASubstitution - Missense
PCDHGB2ENSG00000253910ENST00000522605p.R499Wc.1495C>TSubstitution - Missense
SAMD4BENSG00000179134ENST00000314471p.R259Qc.776G>ASubstitution - Missense
PCDH1ENSG00000156453ENST00000287008p.R789Hc.2366G>ASubstitution - Missense
NCANENSG00000130287ENST00000252575p.R637Cc.1909C>TSubstitution - Missense
QKIENSG00000112531ENST00000275262p.K134fs*14c.394delADeletion - Frameshift
HIAT1ENSG00000156875ENST00000370152p.L269fs*6c.799delTDeletion - Frameshift
ARVCFENSG00000099889ENST00000263207p.G693Sc.2077G>ASubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.G3456fs*20c.10361delGDeletion - Frameshift
YLPM1ENSG00000119596ENST00000325680p.G255fs*3c.754_755insCInsertion - Frameshift
CREB5ENSG00000146592ENST00000357727p.E376Kc.1126G>ASubstitution - Missense
NBL1ENSG00000158747ENST00000375136p.V112Mc.334G>ASubstitution - Missense
FCRLAENSG00000132185ENST00000367959p.R227Hc.680G>ASubstitution - Missense
CDC20ENSG00000117399ENST00000310955p.R260Wc.778C>TSubstitution - Missense
MAGI2ENSG00000187391ENST00000354212p.Y827Cc.2480A>GSubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.F842fs*17c.2518delTDeletion - Frameshift
MAP2K1ENSG00000169032ENST00000307102p.Q56Pc.167A>CSubstitution - Missense
TCTE1ENSG00000146221ENST00000371505p.V141Mc.421G>ASubstitution - Missense
SLC22A6ENSG00000197901ENST00000377871p.F259fs*27c.777delTDeletion - Frameshift
QSER1ENSG00000060749ENST00000399302p.I1584fs*1c.4744delADeletion - Frameshift
MYOFENSG00000138119ENST00000359263p.K1223Nc.3669A>TSubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.P1571Pc.4713G>ASubstitution - coding silent
MAP3K6ENSG00000142733ENST00000493901p.F849fs*143c.2544delCDeletion - Frameshift
PABPC4ENSG00000090621ENST00000372857p.Q565fs*33c.1693delCDeletion - Frameshift
KCTD3ENSG00000136636ENST00000259154p.S806fs*>10c.2410delADeletion - Frameshift
GGPS1ENSG00000152904ENST00000282841p.K245fs*10c.729delADeletion - Frameshift
CAMSAP2ENSG00000118200ENST00000358823p.M1426fs*1c.4270delADeletion - Frameshift
SASS6ENSG00000156876ENST00000287482p.L57fs*14c.170delTDeletion - Frameshift
DNAH5ENSG00000039139ENST00000265104p.N119Nc.357C>TSubstitution - coding silent
DCAF12L2ENSG00000198354ENST00000360028p.R246Hc.737G>ASubstitution - Missense
DCAF12L2ENSG00000198354ENST00000538699p.R246Hc.737G>ASubstitution - Missense
ENST00000338282p.P1933fs*>6c.5798delCDeletion - Frameshift
C15orf39ENSG00000167173ENST00000360639p.P474fs*91c.1415delCDeletion - Frameshift
ADAM21ENSG00000139985ENST00000267499p.L684fs*3c.2045delTDeletion - Frameshift
CTAGE5ENSG00000150527ENST00000280083p.L59fs*22c.169delTDeletion - Frameshift
SETDB2ENSG00000136169ENST00000317257p.M506fs*24c.1510delADeletion - Frameshift
UHRF1BP1LENSG00000111647ENST00000279907p.V1073fs*2c.3215_3216insCInsertion - Frameshift
CDX2ENSG00000165556ENST00000381020p.V306fs*2c.916delGDeletion - Frameshift
KDM2BENSG00000089094ENST00000377071p.K26fs*81c.77delADeletion - Frameshift
TSPAN18ENSG00000157570ENST00000340160p.R78Hc.233G>ASubstitution - Missense
HERC6ENSG00000138642ENST00000264346p.K663fs*27c.1982delADeletion - Frameshift
ATP10DENSG00000145246ENST00000273859p.L617fs*41c.1842delGDeletion - Frameshift
MYO15AENSG00000091536ENST00000205890p.T2754Mc.8261C>TSubstitution - Missense
RETENSG00000165731ENST00000355710p.R360Wc.1078C>TSubstitution - Missense
ULK2ENSG00000083290ENST00000361658p.K278fs*130c.834delADeletion - Frameshift
KMT2CENSG00000055609ENST00000262189p.R4544Wc.13630C>TSubstitution - Missense
ENST00000356127p.R1012*c.3034C>TSubstitution - Nonsense
TTNENSG00000155657ENST00000360870p.R1012*c.3034C>TSubstitution - Nonsense
ACVR1BENSG00000135503ENST00000541224p.R485*c.1453C>TSubstitution - Nonsense
STK40ENSG00000196182ENST00000373129p.P242Pc.726C>TSubstitution - coding silent
NOC3LENSG00000173145ENST00000371361p.R614Hc.1841G>ASubstitution - Missense
PUM2ENSG00000055917ENST00000338086p.A410Vc.1229C>TSubstitution - Missense
KCTD20ENSG00000112078ENST00000373731p.N316fs*64c.942delADeletion - Frameshift
ISLR2ENSG00000167178ENST00000361742p.A681Tc.2041G>ASubstitution - Missense
OR51S1ENSG00000176922ENST00000322101p.R65Hc.194G>ASubstitution - Missense
ZZEF1ENSG00000074755ENST00000381638p.V1474Ic.4420G>ASubstitution - Missense
TEX29ENSG00000153495ENST00000283547p.R37Qc.110G>ASubstitution - Missense
NRXN3ENSG00000021645ENST00000335750p.E307Kc.919G>ASubstitution - Missense
THAP9ENSG00000168152ENST00000302236p.F341fs*2c.1017delTDeletion - Frameshift
SLC26A7ENSG00000147606ENST00000276609p.K333fs*20c.994delADeletion - Frameshift
DNAI2ENSG00000171595ENST00000311014p.F14Fc.42C>TSubstitution - coding silent
SLFNL1ENSG00000171790ENST00000359345p.G232Gc.696C>TSubstitution - coding silent
LOXL2ENSG00000134013ENST00000389131p.S359Lc.1076C>TSubstitution - Missense
ZNF395ENSG00000186918ENST00000344423p.H234fs*43c.700delCDeletion - Frameshift
CNGA4ENSG00000132259ENST00000379936p.G249Gc.747C>TSubstitution - coding silent
CHST9ENSG00000154080ENST00000284224p.R285Ic.854G>TSubstitution - Missense
CHST9ENSG00000154080ENST00000284224p.R200Ic.599G>TSubstitution - Missense
TATENSG00000198650ENST00000355962p.A356Ac.1068G>ASubstitution - coding silent
EPHA2ENSG00000142627ENST00000358432p.P460fs*33c.1379delCDeletion - Frameshift
IGSF3ENSG00000143061ENST00000369486p.R518Wc.1552C>TSubstitution - Missense
IGSF3ENSG00000143061ENST00000369483p.R538Wc.1612C>TSubstitution - Missense
ZNF292ENSG00000188994ENST00000339907p.S1904fs*11c.5702delADeletion - Frameshift
ZNF292ENSG00000188994ENST00000369577p.S2049fs*11c.6137delADeletion - Frameshift
DTX4ENSG00000110042ENST00000227451p.K290fs*34c.864delADeletion - Frameshift
NPC1L1ENSG00000015520ENST00000289547p.A473Tc.1417G>ASubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.?c.1350+8C>TUnknown
WNT5AENSG00000114251ENST00000264634p.C402Cc.1206C>TSubstitution - coding silent
PLEKHA6ENSG00000143850ENST00000272203p.V328fs*172c.982delGDeletion - Frameshift
DOCK3ENSG00000088538ENST00000266037p.P1852fs*45c.5549delCDeletion - Frameshift
MATN3ENSG00000132031ENST00000407540p.T387fs*10c.1159delADeletion - Frameshift
POU4F2ENSG00000151615ENST00000281321p.R331Hc.992G>ASubstitution - Missense
RALYLENSG00000184672ENST00000522455p.L214Lc.640C>TSubstitution - coding silent
NCEH1ENSG00000144959ENST00000273512p.R5Cc.13C>TSubstitution - Missense
ABLIM1ENSG00000099204ENST00000369252p.I485Ic.1455C>TSubstitution - coding silent
ENST00000317726p.V194Mc.580G>ASubstitution - Missense
MSH6ENSG00000116062ENST00000234420p.F1088fs*5c.3253_3254insCInsertion - Frameshift
MSLNENSG00000102854ENST00000382862p.R309Cc.925C>TSubstitution - Missense
HOXB1ENSG00000120094ENST00000239174p.R261Hc.782G>ASubstitution - Missense
ENST00000342288p.?c.942-1G>TUnknown
LPHN3ENSG00000150471ENST00000514591p.T443Tc.1329C>ASubstitution - coding silent
LPHN3ENSG00000150471ENST00000512091p.T443Tc.1329C>ASubstitution - coding silent
LPHN3ENSG00000150471ENST00000512091p.T443Tc.1329C>ASubstitution - coding silent
CHRNB3ENSG00000147432ENST00000289957p.A206Tc.616G>ASubstitution - Missense
ANO2ENSG00000047617ENST00000327087p.T859Tc.2577G>ASubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.R4634*c.13900C>TSubstitution - Nonsense
AGAP1ENSG00000157985ENST00000304032p.T206Tc.618G>ASubstitution - coding silent


COSMIC

10 mutations reported
1 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
CTNNB1ENSG00000168036ENST00000349496p.S33Yc.98C>ASubstitution - Missense9065402
CTNNB1ENSG00000168036ENST00000349496p.S33Yc.98C>ASubstitution - Missense9294210
KMT2CENSG00000055609ENST00000262189p.R4544Wc.13630C>TSubstitution - Missense21853109
KMT2CENSG00000055609ENST00000262189p.K2797fs*26c.8390_8390delADeletion - Frameshift21853109
CTNNB1ENSG00000168036ENST00000349496p.S33Yc.98C>ASubstitution - Missense12460462
CTNNB1ENSG00000168036ENST00000349496p.S33Yc.98C>ASubstitution - Missense11920497
TP53ENSG00000141510ENST00000269305p.R248Wc.742C>TSubstitution - Missense7651727
EGFRENSG00000146648ENST00000275493p.?c.3633+293_3633+294delAAUnknown19789347
RNF43ENSG00000108375ENST00000407977p.G659fs*41c.1976delGDeletion - Frameshift17086209
RNF43ENSG00000108375ENST00000407977p.V299fs*143c.896_897delTGDeletion - Frameshift17086209