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NUGC-3 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

2329 mutations reported
765 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
ZNF541ENSG00000118156ENST00000391901p.V169Fc.505G>TSubstitution - Missense
ZNF764ENSG00000169951ENST00000252797p.T336Tc.1008C>ASubstitution - coding silent
LHFPL5ENSG00000197753ENST00000373853p.A7Tc.19G>ASubstitution - Missense
ZC3H12BENSG00000102053ENST00000338957p.Y384Cc.1151A>GSubstitution - Missense
ZNF93ENSG00000184635ENST00000343769p.E169fs*8c.505delGDeletion - Frameshift
BNC2ENSG00000173068ENST00000380672p.R232Rc.696C>TSubstitution - coding silent
TRIOBPENSG00000100106ENST00000406386p.H1159fs*54c.3471delCDeletion - Frameshift
RNF175ENSG00000145428ENST00000347063p.G242Wc.724G>TSubstitution - Missense
SORBS2ENSG00000154556ENST00000418609p.E948fs*>57c.2842delGDeletion - Frameshift
GIMAP5ENSG00000196329ENST00000358647p.H112fs*6c.327delGDeletion - Frameshift
AHI1ENSG00000135541ENST00000367800p.M827Vc.2479A>GSubstitution - Missense
MED23ENSG00000112282ENST00000368068p.A246Vc.737C>TSubstitution - Missense
SCN2AENSG00000136531ENST00000375427p.M1128Vc.3382A>GSubstitution - Missense
PXDNENSG00000130508ENST00000252804p.E1041Gc.3122A>GSubstitution - Missense
NBASENSG00000151779ENST00000281513p.L2267Lc.6801G>ASubstitution - coding silent
NUP98ENSG00000110713ENST00000359171p.T456Mc.1367C>TSubstitution - Missense
NM_032681.1p.S104Fc.311C>TSubstitution - Missense
ZBTB17ENSG00000116809ENST00000375733p.Q172Hc.516G>TSubstitution - Missense
CHD1LENSG00000131778ENST00000369258p.R633Qc.1898G>ASubstitution - Missense
PADI2ENSG00000117115ENST00000375486p.T114Ic.341C>TSubstitution - Missense
KIAA1731ENSG00000166004ENST00000411936p.Q1171Hc.3513A>CSubstitution - Missense
KANK2ENSG00000197256ENST00000432929p.G371Sc.1111G>ASubstitution - Missense
PON2ENSG00000105854ENST00000536183p.G136Dc.407G>ASubstitution - Missense
CDR1ENSG00000184258ENST00000370532p.L67Pc.200T>CSubstitution - Missense
USP49ENSG00000164663ENST00000394253p.F468Fc.1404T>CSubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.I5044Tc.15131T>CSubstitution - Missense
DNAJB2ENSG00000135924ENST00000392086p.R24Rc.72G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.Y220Cc.659A>GSubstitution - Missense
BNC2ENSG00000173068ENST00000380666p.R232Rc.696C>TSubstitution - coding silent
NM_152426.2p.R144Wc.430C>TSubstitution - Missense
TMTC3ENSG00000139324ENST00000266712p.K758fs*31c.2268delADeletion - Frameshift
NM_004667.3p.M1985Tc.5954T>CSubstitution - Missense
TP53BP2ENSG00000143514ENST00000343537p.E803Kc.2407G>ASubstitution - Missense
SLC9A1ENSG00000090020ENST00000263980p.T685Mc.2054C>TSubstitution - Missense
PCSK9ENSG00000169174ENST00000302118p.A475Tc.1423G>ASubstitution - Missense
CDR1ENSG00000184258ENST00000370532p.D56Dc.168T>CSubstitution - coding silent
DIP2CENSG00000151240ENST00000280886p.L405Lc.1213C>TSubstitution - coding silent
ZSWIM8ENSG00000214655ENST00000398706p.P1692Sc.5074C>TSubstitution - Missense
TESPA1ENSG00000135426ENST00000316577p.R384Sc.1152G>TSubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.C341Cc.1023C>TSubstitution - coding silent
ASAP3ENSG00000088280ENST00000336689p.Q463Rc.1388A>GSubstitution - Missense
LRP5ENSG00000162337ENST00000294304p.A522Tc.1564G>ASubstitution - Missense
PTPREENSG00000132334ENST00000254667p.?c.588+10C>TUnknown
SLC38A4ENSG00000139209ENST00000266579p.Y379*c.1137C>ASubstitution - Nonsense
TCF7L2ENSG00000148737ENST00000543371p.T142Mc.425C>TSubstitution - Missense
DNAJC12ENSG00000108176ENST00000339758p.K58Qc.172A>CSubstitution - Missense
RTN3ENSG00000133318ENST00000339997p.K1011fs*>3c.3025_3026delAADeletion - Frameshift
PIK3C2AENSG00000011405ENST00000265970p.R1284Mc.3851G>TSubstitution - Missense
CD247ENSG00000198821ENST00000362089p.L114Lc.340C>TSubstitution - coding silent
FLGENSG00000143631ENST00000368799p.N3534Ic.10601A>TSubstitution - Missense
PYGMENSG00000068976ENST00000164139p.R804Rc.2412G>ASubstitution - coding silent
SV2BENSG00000185518ENST00000394232p.G214fs*31c.637delGDeletion - Frameshift
FAM208BENSG00000108021ENST00000328090p.S802Nc.2405G>ASubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.P105fs*25c.311delCDeletion - Frameshift
CFHR2ENSG00000080910ENST00000367415p.I112Fc.334A>TSubstitution - Missense
GAD2ENSG00000136750ENST00000259271p.T567Tc.1701T>CSubstitution - coding silent
HTATIP2ENSG00000109854ENST00000419348p.D120Dc.360T>CSubstitution - coding silent
ENST00000407384p.R86Hc.257G>ASubstitution - Missense
ITGA10ENSG00000143127ENST00000369304p.G487Gc.1461C>TSubstitution - coding silent
RFX7ENSG00000181827ENST00000423270p.P1314Qc.3941C>ASubstitution - Missense
DMRTA2ENSG00000142700ENST00000404795p.H353Qc.1059C>GSubstitution - Missense
SSBP3ENSG00000157216ENST00000371319p.G195Gc.585C>TSubstitution - coding silent
ENST00000456955p.H544Rc.1631A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.P5901Pc.17703T>CSubstitution - coding silent
RBM41ENSG00000089682ENST00000372479p.Q263Qc.789G>ASubstitution - coding silent
SOX15ENSG00000129194ENST00000250055p.R119Lc.356G>TSubstitution - Missense
MMP24ENSG00000125966ENST00000246186p.L618Lc.1852C>TSubstitution - coding silent
DNAH2ENSG00000183914ENST00000389173p.S1549Pc.4645T>CSubstitution - Missense
OAZ1ENSG00000104904ENST00000322297p.E220fs*>8c.652_653delGADeletion - Frameshift
TAF1LENSG00000122728ENST00000242310p.R512Wc.1534C>TSubstitution - Missense
TOPORSENSG00000197579ENST00000360538p.K617Qc.1849A>CSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.R1097Cc.3289C>TSubstitution - Missense
DOCK5ENSG00000147459ENST00000276440p.M40Ic.120G>ASubstitution - Missense
SLC4A4ENSG00000080493ENST00000340595p.E1023Ac.3068A>CSubstitution - Missense
E2F3ENSG00000112242ENST00000346618p.S73delSc.211_213delTCCDeletion - In frame
LRRCC1ENSG00000133739ENST00000414626p.P172Pc.516A>GSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.E3219fs*15c.9649delADeletion - Frameshift
KCTD18ENSG00000155729ENST00000359878p.?c.372+7G>AUnknown
FARP2ENSG00000006607ENST00000264042p.Y993Hc.2977T>CSubstitution - Missense
WDFY3ENSG00000163625ENST00000295888p.?c.3268+7A>GUnknown
BIRC6ENSG00000115760ENST00000421745p.C355Fc.1064G>TSubstitution - Missense
ZNF776ENSG00000152443ENST00000317178p.S218Nc.653G>ASubstitution - Missense
KIAA1109ENSG00000138688ENST00000264501p.R3177Rc.9531A>GSubstitution - coding silent
HNRNPH1ENSG00000169045ENST00000356731p.R29Mc.86G>TSubstitution - Missense
WDR36ENSG00000134987ENST00000506538p.?c.2171-10T>AUnknown
CREB5ENSG00000146592ENST00000357727p.?c.464+5G>AUnknown
ZC3H6ENSG00000188177ENST00000409871p.F132fs*2c.387_388insAInsertion - Frameshift
SPTBN1ENSG00000115306ENST00000356805p.H494Hc.1482C>TSubstitution - coding silent
SREBF2ENSG00000198911ENST00000361204p.?c.2738+4C>TUnknown
ISL2ENSG00000159556ENST00000290759p.V82Ic.244G>ASubstitution - Missense
ENST00000279593p.L612Lc.1836G>TSubstitution - coding silent
PAOXENSG00000148832ENST00000278060p.F188delFc.558_560delCTTDeletion - In frame
YAF2ENSG00000015153ENST00000534854p.S154Nc.461G>ASubstitution - Missense
TACC2ENSG00000138162ENST00000453444p.P516fs*95c.1543delCDeletion - Frameshift
PRAMEF1ENSG00000116721ENST00000332296p.L284Mc.850C>ASubstitution - Missense
CDH23ENSG00000107736ENST00000442677p.E641Kc.1921G>ASubstitution - Missense
ARHGAP20ENSG00000137727ENST00000260283p.K911Kc.2733G>ASubstitution - coding silent
ENST00000298047_v61p.Y2254Yc.6762C>TSubstitution - coding silent
EP400ENSG00000183495ENST00000389561p.P1307Pc.3921T>CSubstitution - coding silent
SOAT1ENSG00000057252ENST00000367619p.?c.390-9C>TUnknown
PLEKHA6ENSG00000143850ENST00000272203p.P27Lc.80C>TSubstitution - Missense
ST5ENSG00000166444ENST00000534127p.R226Wc.676C>TSubstitution - Missense
GCSAMLENSG00000169224ENST00000366490p.L74Lc.222G>ASubstitution - coding silent
ADAMTS17ENSG00000140470ENST00000268070p.P515Lc.1544C>TSubstitution - Missense
TLE3ENSG00000140332ENST00000558939p.K569Nc.1707G>TSubstitution - Missense
TAC4ENSG00000176358ENST00000334568p.T57Tc.171G>ASubstitution - coding silent
RRBP1ENSG00000125844ENST00000377813p.Q7Pc.20A>CSubstitution - Missense
MSLNENSG00000102854ENST00000382862p.L395Mc.1183C>ASubstitution - Missense
ENST00000293218_v68p.C333Rc.997T>CSubstitution - Missense
PLAG1ENSG00000181690ENST00000316981p.C39fs*1c.117_118delTGDeletion - Frameshift
PLAG1ENSG00000181690ENST00000316981p.C39fs*1c.117_118delTGDeletion - Frameshift
APOBENSG00000084674ENST00000233242p.Q961*c.2881C>TSubstitution - Nonsense
NM_003319p.I443Nc.1328T>ASubstitution - Missense
FRMPD3ENSG00000147234ENST00000276185p.S1014fs*18c.3033delCDeletion - Frameshift
WDR81ENSG00000167716ENST00000309182p.P258Hc.773C>ASubstitution - Missense
LRRC37A3ENSG00000176809ENST00000319651p.Q38Rc.113A>GSubstitution - Missense
APPL1ENSG00000157500ENST00000288266p.R634Mc.1901G>TSubstitution - Missense
RNF125ENSG00000101695ENST00000217740p.P167Hc.500C>ASubstitution - Missense
SUPT6HENSG00000109111ENST00000314616p.N854Nc.2562C>TSubstitution - coding silent
TBC1D3ENSG00000197681ENST00000354664p.T315Tc.945G>ASubstitution - coding silent
DSCR3ENSG00000157538ENST00000309117p.I237Nc.710T>ASubstitution - Missense
ENST00000400522_v68p.M139Tc.416T>CSubstitution - Missense
ITSN2ENSG00000198399ENST00000355123p.A1312Vc.3935C>TSubstitution - Missense
ADCY3ENSG00000138031ENST00000260600p.?c.1805+6C>TUnknown
TBC1D23ENSG00000036054ENST00000394144p.A382Tc.1144G>ASubstitution - Missense
NF2ENSG00000186575ENST00000403999p.K228fs*23c.679delADeletion - Frameshift
LAMA5ENSG00000130702ENST00000252999p.G1125Gc.3375C>TSubstitution - coding silent
NIPSNAP1ENSG00000184117ENST00000216121p.?c.579+5C>TUnknown
POMKENSG00000185900ENST00000331373p.T163Tc.489A>CSubstitution - coding silent
FBXO41ENSG00000163013ENST00000521871p.G756Vc.2267G>TSubstitution - Missense
KCNN2ENSG00000080709ENST00000503706p.V58Mc.172G>ASubstitution - Missense
U2AF2ENSG00000063244ENST00000308924p.T133Tc.399C>ASubstitution - coding silent
ENST00000376868p.F359Fc.1077C>TSubstitution - coding silent
IL1F10ENSG00000136697ENST00000393197p.S138Rc.412A>CSubstitution - Missense
CACNA1BENSG00000148408ENST00000371372p.?c.390+2T>GUnknown
SORBS2ENSG00000154556ENST00000393528p.E610fs*>57c.1828delGDeletion - Frameshift
ADAMTSL2ENSG00000197859ENST00000354484p.P844Pc.2532C>TSubstitution - coding silent
FRMD3ENSG00000172159ENST00000304195p.?c.837+9C>TUnknown
MAMDC4ENSG00000177943ENST00000445819p.?c.328+6G>AUnknown
THUMPD2ENSG00000138050ENST00000260619p.S301Sc.903C>TSubstitution - coding silent
GPATCH11ENSG00000152133ENST00000409774p.I131fs*8c.383_384insAInsertion - Frameshift
SLFN11ENSG00000172716ENST00000394566p.T352Tc.1056A>CSubstitution - coding silent
ENST00000316490p.R3432Rc.10296G>ASubstitution - coding silent
ZNF479ENSG00000185177ENST00000331162p.N201Tc.602A>CSubstitution - Missense
TERF2ENSG00000132604ENST00000254942p.G254Ec.761G>ASubstitution - Missense
FAM20CENSG00000177706ENST00000313766p.V172Vc.516G>ASubstitution - coding silent
KMT2CENSG00000055609ENST00000355193p.L326Vc.976C>GSubstitution - Missense
AHRENSG00000106546ENST00000242057p.Q198fs*3c.588delCDeletion - Frameshift
FNIP2ENSG00000052795ENST00000264433p.P483Hc.1448C>ASubstitution - Missense
C6orf25ENSG00000204420ENST00000375809p.S13Tc.37T>ASubstitution - Missense
C5ENSG00000106804ENST00000223642p.H1035fs*5c.3102delTDeletion - Frameshift
C5ENSG00000106804ENST00000223642p.G803Gc.2409C>TSubstitution - coding silent
SPTAN1ENSG00000197694ENST00000372739p.V1128Vc.3384G>ASubstitution - coding silent
PTPRGENSG00000144724ENST00000474889p.V1382Vc.4146T>GSubstitution - coding silent
EBF2ENSG00000221818ENST00000520164p.R151Lc.452G>TSubstitution - Missense
CCNIENSG00000118816ENST00000237654p.D217Ec.651T>GSubstitution - Missense
KRTAP6-2ENSG00000186930ENST00000334897p.Y20Yc.60C>TSubstitution - coding silent
ZNF394ENSG00000160908ENST00000337673p.D439Dc.1317C>TSubstitution - coding silent
CALCRENSG00000004948ENST00000359558p.G387Rc.1159G>ASubstitution - Missense
NM_003319p.S16538Ic.49613G>TSubstitution - Missense
MCM3APENSG00000160294ENST00000397708p.Q842Ec.2524C>GSubstitution - Missense
MYH10ENSG00000133026ENST00000269243p.G404Gc.1212C>TSubstitution - coding silent
ANO7ENSG00000146205ENST00000402430p.P753Pc.2259G>CSubstitution - coding silent
SLC25A18ENSG00000182902ENST00000399813p.L92Lc.274C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.E25756Vc.77267A>TSubstitution - Missense
ZNF677ENSG00000197928ENST00000333952p.?c.169+3A>GUnknown
GAS7ENSG00000007237ENST00000432992p.R49Rc.147T>CSubstitution - coding silent
TNK2ENSG00000061938ENST00000333602p.R806fs*27c.2416delCDeletion - Frameshift
KCNU1ENSG00000215262ENST00000399881p.T863Tc.2589T>ASubstitution - coding silent
HNRNPDENSG00000138668ENST00000353341p.V208Vc.624G>ASubstitution - coding silent
MYO7BENSG00000169994ENST00000428314p.A1263Tc.3787G>ASubstitution - Missense
ENST00000272666p.T2021Mc.6062C>TSubstitution - Missense
DMDENSG00000198947ENST00000378677p.L2347Lc.7039T>CSubstitution - coding silent
GSAPENSG00000186088ENST00000257626p.Q76Lc.227A>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.G8745Dc.26234G>ASubstitution - Missense
PROKR1ENSG00000169618ENST00000303786p.F267Fc.801C>TSubstitution - coding silent
CSF2RBENSG00000100368ENST00000403662p.L297Lc.891C>TSubstitution - coding silent
ITPR1ENSG00000150995ENST00000456211p.P1709Pc.5127A>GSubstitution - coding silent
PTCD2ENSG00000049883ENST00000380639p.N295fs*11c.879delADeletion - Frameshift
ARFIP1ENSG00000164144ENST00000353617p.A336Tc.1006G>ASubstitution - Missense
OR13C2ENSG00000257019ENST00000542196p.P79Sc.235C>TSubstitution - Missense
OR13C2ENSG00000257019ENST00000542196p.S18Fc.53C>TSubstitution - Missense
NM_004505.1p.K66Nc.198A>TSubstitution - Missense
ZZEF1ENSG00000074755ENST00000381638p.M1541Tc.4622T>CSubstitution - Missense
SORBS2ENSG00000154556ENST00000448662p.E605fs*>57c.1813delGDeletion - Frameshift
MECOMENSG00000085276ENST00000392736p.R148Qc.443G>ASubstitution - Missense
SIENSG00000090402ENST00000264382p.E889*c.2665G>TSubstitution - Nonsense
LCN15ENSG00000177984ENST00000316144p.S59Fc.176C>TSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.I432fs*7c.1294delADeletion - Frameshift
OR1E1ENSG00000180016ENST00000322608p.F113Lc.339C>ASubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.R889Kc.2666G>ASubstitution - Missense
KIF4BENSG00000226650ENST00000435029p.R328Hc.983G>ASubstitution - Missense
CHD6ENSG00000124177ENST00000373233p.A69Vc.206C>TSubstitution - Missense
JAKMIP1ENSG00000152969ENST00000282924p.I357Mc.1071C>GSubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.V466Vc.1398G>ASubstitution - coding silent
XIRP2ENSG00000163092ENST00000409728p.E615delEc.1842_1844delAGADeletion - In frame
USH2AENSG00000042781ENST00000366943p.N964Ic.2891A>TSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.A4656Ac.13968G>ASubstitution - coding silent
ASTN1ENSG00000152092ENST00000367654p.R183Hc.548G>ASubstitution - Missense
ITGB3ENSG00000259207ENST00000559488p.I417Nc.1250T>ASubstitution - Missense
MYCBPAPENSG00000136449ENST00000436259p.?c.94+7G>AUnknown
CCDC180ENSG00000197816ENST00000411667p.G743Cc.2227G>TSubstitution - Missense
CLEC10AENSG00000132514ENST00000576617p.?c.440-5A>GUnknown
TNFRSF10AENSG00000104689ENST00000221132p.T155Ic.464C>TSubstitution - Missense
DHX8ENSG00000067596ENST00000262415p.R365Qc.1094G>ASubstitution - Missense
NM_133170.2p.R270Hc.809G>ASubstitution - Missense
CDH4ENSG00000179242ENST00000360469p.A428Vc.1283C>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000404898p.R1414Hc.4241G>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000402142p.R1449Hc.4346G>ASubstitution - Missense
DDR1ENSG00000204580ENST00000324771p.T531fs*122c.1584delCDeletion - Frameshift
ODF3L1ENSG00000182950ENST00000332145p.R110Cc.328C>TSubstitution - Missense
DYRK3ENSG00000143479ENST00000367109p.V582Ic.1744G>ASubstitution - Missense
CR1ENSG00000203710ENST00000367049p.?c.402-7C>TUnknown
PI4K2BENSG00000038210ENST00000264864p.R292Kc.875G>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.N964Ic.2891A>TSubstitution - Missense
CLK3ENSG00000179335ENST00000395066p.P248fs*86c.737delGDeletion - Frameshift
CLK3ENSG00000179335ENST00000345005p.P100fs*86c.293delGDeletion - Frameshift
ANKRD20A4ENSG00000172014ENST00000357336p.S689fs*31c.2057_2058insAInsertion - Frameshift
NM_032217.3p.W2474Rc.7420T>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.E19451Vc.58352A>TSubstitution - Missense
NBEAL1ENSG00000144426ENST00000449802p.P813Pc.2439T>CSubstitution - coding silent
NM_206943.1p.?c.4988-6T>AUnknown
TNK2ENSG00000061938ENST00000333602p.R806fs*27c.2416delCDeletion - Frameshift
INTS12ENSG00000138785ENST00000394735p.Q126Lc.377A>TSubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.T1065Ic.3194C>TSubstitution - Missense
CPB1ENSG00000153002ENST00000282957p.F185Fc.555C>TSubstitution - coding silent
ROCK2ENSG00000134318ENST00000315872p.L1030Lc.3090C>GSubstitution - coding silent
ROCK2ENSG00000134318ENST00000315872p.E514Kc.1540G>ASubstitution - Missense
STXBP5LENSG00000145087ENST00000273666p.A416Vc.1247C>TSubstitution - Missense
COL7A1ENSG00000114270ENST00000328333p.G2487Sc.7459G>ASubstitution - Missense
FYNENSG00000010810ENST00000354650p.R481Rc.1443A>TSubstitution - coding silent
OR13D1ENSG00000179055ENST00000318763p.S10Sc.30A>GSubstitution - coding silent
MCM9ENSG00000111877ENST00000316316p.L634Ic.1900C>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000404898p.P35Pc.105G>ASubstitution - coding silent
OGDHENSG00000105953ENST00000222673p.K387Nc.1161G>TSubstitution - Missense
EZH2ENSG00000106462ENST00000350995p.D150_G151insDc.427_428insATGInsertion - In frame
EPB41L2ENSG00000079819ENST00000368128p.T530Tc.1590C>TSubstitution - coding silent
ENST00000319396p.T2067Tc.6201G>ASubstitution - coding silent
CYTIPENSG00000115165ENST00000264192p.M313Vc.937A>GSubstitution - Missense
ENST00000359961p.T261Ic.782C>TSubstitution - Missense
KCNIP1ENSG00000182132ENST00000377360p.?c.284-6T>GUnknown
FAM78AENSG00000126882ENST00000372269p.P247Pc.741G>ASubstitution - coding silent
CACNA1IENSG00000100346ENST00000336649p.R1455Hc.4364G>ASubstitution - Missense
ENST00000317826p.V298Lc.892G>TSubstitution - Missense
ADAMTSL4ENSG00000143382ENST00000369039p.?c.1931-3C>TUnknown
GLB1L3ENSG00000166105ENST00000389887p.R101Mc.302G>TSubstitution - Missense
MERTKENSG00000153208ENST00000295408p.G440Gc.1320C>TSubstitution - coding silent
SLC8A1ENSG00000183023ENST00000406785p.T876Ic.2627C>TSubstitution - Missense
MCM8ENSG00000125885ENST00000378886p.G7Gc.21C>TSubstitution - coding silent
LMX1BENSG00000136944ENST00000373474p.K114Ec.340A>GSubstitution - Missense
CYFIP2ENSG00000055163ENST00000435847p.E739Ec.2217G>ASubstitution - coding silent
PHKA1ENSG00000067177ENST00000373539p.?c.2527-10C>TUnknown
TTKENSG00000112742ENST00000369798p.K857fs?c.2565delADeletion - Frameshift
CHD3ENSG00000170004ENST00000330494p.P1929Lc.5786C>TSubstitution - Missense
HALENSG00000084110ENST00000261208p.A559Pc.1675G>CSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.A2759Vc.8276C>TSubstitution - Missense
MMP3ENSG00000149968ENST00000299855p.I64fs*12c.190delADeletion - Frameshift
RDXENSG00000137710ENST00000343115p.P471fs*35c.1412delCDeletion - Frameshift
FOXD4ENSG00000170122ENST00000382500p.A322fs*>118c.960_961delTTDeletion - Frameshift
NM_207305.1p.A322fs*160c.960_961delTTDeletion - Frameshift
PRDM4ENSG00000110851ENST00000228437p.T193Tc.579T>CSubstitution - coding silent
EXT2ENSG00000151348ENST00000533608p.A405Vc.1214C>TSubstitution - Missense
UBASH3BENSG00000154127ENST00000284273p.H479Hc.1437C>TSubstitution - coding silent
ARHGAP19ENSG00000213390ENST00000358531p.?c.1395+1G>CUnknown
LUZP1ENSG00000169641ENST00000374623p.*1077fs?c.3229_3230delTGDeletion - Frameshift
CHD8ENSG00000100888ENST00000399982p.V378Vc.1134A>GSubstitution - coding silent
DHHENSG00000139549ENST00000266991p.Q21Hc.63G>TSubstitution - Missense
HABP2ENSG00000148702ENST00000351270p.K254Kc.762G>ASubstitution - coding silent
ENST00000312452p.G149Gc.447C>TSubstitution - coding silent
SPTBN5ENSG00000137877ENST00000320955p.A1752Tc.5254G>ASubstitution - Missense
ECM1ENSG00000143369ENST00000369047p.Q276Hc.828G>TSubstitution - Missense
ACRBPENSG00000111644ENST00000229243p.T41Nc.122C>ASubstitution - Missense
IGF2ENSG00000167244ENST00000434045p.P229fs*>8c.686delCDeletion - Frameshift
KLHL12ENSG00000117153ENST00000435533p.?c.70-6T>AUnknown
PDE4DIPENSG00000178104ENST00000369354p.N19fs*34c.55_56insGAInsertion - Frameshift
ASTN1ENSG00000152092ENST00000361833p.R183Hc.548G>ASubstitution - Missense
DNAJC21ENSG00000168724ENST00000303525p.Q174Kc.520C>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.I443Nc.1328T>ASubstitution - Missense
ENST00000356127p.I443Nc.1328T>ASubstitution - Missense
XM_042978.4p.S1063fs*18c.3180delCDeletion - Frameshift
SORBS3ENSG00000120896ENST00000240123p.K87Kc.261G>ASubstitution - coding silent
PON2ENSG00000105854ENST00000222572p.G115Dc.344G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.A25885Tc.77653G>ASubstitution - Missense
HCKENSG00000101336ENST00000375852p.A403Vc.1208C>TSubstitution - Missense
LRRCC1ENSG00000133739ENST00000414626p.N188Sc.563A>GSubstitution - Missense
ENST00000404449p.M628fs*18c.1882_1883insAInsertion - Frameshift
SF3B1ENSG00000115524ENST00000335508p.T436Tc.1308A>GSubstitution - coding silent
TFAP4ENSG00000090447ENST00000204517p.T37Tc.111C>ASubstitution - coding silent
LTBP1ENSG00000049323ENST00000407925p.P1254Hc.3761C>ASubstitution - Missense
HOXA1ENSG00000105991ENST00000343060p.H72_R73insHc.191_192insCCAInsertion - In frame
CPVLENSG00000106066ENST00000396276p.Y266fs*8c.794_795insAInsertion - Frameshift
MAGI2ENSG00000187391ENST00000354212p.A383Vc.1148C>TSubstitution - Missense
MRPL2ENSG00000112651ENST00000388752p.G214Dc.641G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.I4479Fc.13435A>TSubstitution - Missense
SAPCD2ENSG00000186193ENST00000409687p.V263Vc.789G>ASubstitution - coding silent
NM_053025p.?c.1310-6C>AUnknown
HHATLENSG00000010282ENST00000310417p.L401Lc.1203C>ASubstitution - coding silent
DSTENSG00000151914ENST00000244364p.L1173fs*8c.3518delTDeletion - Frameshift
C5orf24ENSG00000181904ENST00000394976p.P15Sc.43C>TSubstitution - Missense
USP6ENSG00000129204ENST00000250066p.K66Nc.198A>TSubstitution - Missense
KIF3AENSG00000131437ENST00000378746p.S386Tc.1157G>CSubstitution - Missense
RNF175ENSG00000145428ENST00000347063p.G242Wc.724G>TSubstitution - Missense
FGGENSG00000171557ENST00000336098p.P386delPc.1156_1158delCCTDeletion - In frame
MAMDC4ENSG00000177943ENST00000445819p.L703fs*109c.2102_2103insCInsertion - Frameshift
BACH2ENSG00000112182ENST00000257749p.Q130*c.388C>TSubstitution - Nonsense
TRHRENSG00000174417ENST00000518632p.P222Hc.665C>ASubstitution - Missense
ENSG00000205300ENST00000379526p.W52*c.156G>ASubstitution - Nonsense
DEPDC1BENSG00000035499ENST00000265036p.V357Ic.1069G>ASubstitution - Missense
FAM129CENSG00000167483ENST00000335393p.R200Hc.599G>ASubstitution - Missense
ENST00000317826p.R153Rc.459C>TSubstitution - coding silent
SCN7AENSG00000136546ENST00000409855p.A94Vc.281C>TSubstitution - Missense
MPP7ENSG00000150054ENST00000445954p.Y114Yc.342T>CSubstitution - coding silent
PRDM2ENSG00000116731ENST00000376048p.P27Pc.81G>TSubstitution - coding silent
RPL6ENSG00000089009ENST00000424576p.?c.715-3T>AUnknown
SMG6ENSG00000070366ENST00000263073p.R715Cc.2143C>TSubstitution - Missense
EHMT2ENSG00000204371ENST00000395728p.?c.1036-5C>TUnknown
TIAM2ENSG00000146426ENST00000456144p.?c.3832+7C>TUnknown
OSBPL5ENSG00000021762ENST00000263650p.P193Pc.579G>ASubstitution - coding silent
XM_497119.1p.R2934*c.8800C>TSubstitution - Nonsense
CNTLNENSG00000044459ENST00000380647p.M1308fs*1c.3916delADeletion - Frameshift
EPB41L1ENSG00000088367ENST00000338074p.T54Tc.162G>ASubstitution - coding silent
PER2ENSG00000132326ENST00000254657p.A1049Tc.3145G>ASubstitution - Missense
ERRFI1ENSG00000116285ENST00000377482p.N135fs*40c.404delADeletion - Frameshift
DNAH6ENSG00000115423ENST00000237449p.S114fs*16c.333delADeletion - Frameshift
KCTD3ENSG00000136636ENST00000259154p.A607Vc.1820C>TSubstitution - Missense
C1orf172ENSG00000175707ENST00000320567p.S144fs*104c.429delCDeletion - Frameshift
NRP1ENSG00000099250ENST00000374816p.E374Ac.1121A>CSubstitution - Missense
ENST00000419934p.R302Hc.905G>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.Y5376fs*42c.16125delCDeletion - Frameshift
AGAP2ENSG00000135439ENST00000257897p.K362Rc.1085A>GSubstitution - Missense
PEAR1ENSG00000187800ENST00000338302p.R871Cc.2611C>TSubstitution - Missense
SLCO1B1ENSG00000134538ENST00000256958p.?c.1748-9C>TUnknown
ANO1ENSG00000131620ENST00000355303p.R477Hc.1430G>ASubstitution - Missense
EIF3AENSG00000107581ENST00000369144p.R195Hc.584G>ASubstitution - Missense
DNAJC12ENSG00000108176ENST00000225171p.K58Qc.172A>CSubstitution - Missense
NOS1ENSG00000089250ENST00000317775p.?c.4171-1G>TUnknown
ADAMTSL4ENSG00000143382ENST00000369038p.?c.1862-3C>TUnknown
SLC16A9ENSG00000165449ENST00000395347p.L138Lc.414A>TSubstitution - coding silent
SCUBE2ENSG00000175356ENST00000309263p.G644Wc.1930G>TSubstitution - Missense
KIF21BENSG00000116852ENST00000332129p.G1154Cc.3460G>TSubstitution - Missense
SSBP3ENSG00000157216ENST00000371320p.G222Gc.666C>TSubstitution - coding silent
CLK2ENSG00000176444ENST00000361168p.Y429fs*3c.1286_1287delATDeletion - Frameshift
MYCBPAPENSG00000136449ENST00000323776p.?c.205+7G>AUnknown
RTFDC1ENSG00000022277ENST00000023939p.N129Ic.386A>TSubstitution - Missense
SLC13A2ENSG00000007216ENST00000444914p.C273Cc.819C>TSubstitution - coding silent
GABRG2ENSG00000113327ENST00000356592p.S325Sc.975G>ASubstitution - coding silent
ENST00000316490_v65p.N2888Sc.8663A>GSubstitution - Missense
DPP6ENSG00000130226ENST00000406326p.Q241Hc.723G>TSubstitution - Missense
SLC4A10ENSG00000144290ENST00000415876p.T795Ic.2384C>TSubstitution - Missense
SDK1ENSG00000146555ENST00000404826p.A777Tc.2329G>ASubstitution - Missense
MAP3K1ENSG00000095015ENST00000399503p.D1431Yc.4291G>TSubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.H1542Hc.4626C>TSubstitution - coding silent
TMA16ENSG00000198498ENST00000358572p.R119Wc.355C>TSubstitution - Missense
NUP98ENSG00000110713ENST00000397007p.T473Mc.1418C>TSubstitution - Missense
WDR47ENSG00000085433ENST00000400794p.G208Dc.623G>ASubstitution - Missense
RNF175ENSG00000145428ENST00000274068p.G114Wc.340G>TSubstitution - Missense
DNAH7ENSG00000118997ENST00000410072p.L284Lc.852G>ASubstitution - coding silent
KIF6ENSG00000164627ENST00000441975p.K21Qc.61A>CSubstitution - Missense
BNC2ENSG00000173068ENST00000418777p.R189Rc.567C>TSubstitution - coding silent
TRERF1ENSG00000124496ENST00000372917p.M1103Vc.3307A>GSubstitution - Missense
COL21A1ENSG00000124749ENST00000535941p.R32Cc.94C>TSubstitution - Missense
DMRTB1ENSG00000143006ENST00000371445p.P270delPc.792_794delGCCDeletion - In frame
SPDYE3ENSG00000214300ENST00000332397p.S418Sc.1254A>GSubstitution - coding silent
KCTD19ENSG00000168676ENST00000304372p.V768fs*38c.2301delCDeletion - Frameshift
KLF12ENSG00000118922ENST00000377669p.P213Sc.637C>TSubstitution - Missense
ACACBENSG00000076555ENST00000377848p.G701Rc.2101G>ASubstitution - Missense
PCDH20ENSG00000197991ENST00000409186p.Y483Cc.1448A>GSubstitution - Missense
HEXAENSG00000213614ENST00000268097p.R69Hc.206G>ASubstitution - Missense
FLVCR1ENSG00000162769ENST00000366971p.G389Dc.1166G>ASubstitution - Missense
DYRK3ENSG00000143479ENST00000367106p.V562Ic.1684G>ASubstitution - Missense
FRRS1ENSG00000156869ENST00000287474p.L247Mc.739T>ASubstitution - Missense
VCAM1ENSG00000162692ENST00000294728p.F57fs*7c.166delTDeletion - Frameshift
DNAH14ENSG00000185842ENST00000430092p.A725Tc.2173G>ASubstitution - Missense
OR10G6ENSG00000198674ENST00000307002p.L323Ic.967C>ASubstitution - Missense
FCRL1ENSG00000163534ENST00000368176p.G122Gc.366A>TSubstitution - coding silent
KIF26BENSG00000162849ENST00000407071p.V382Vc.1146G>CSubstitution - coding silent
CDHR5ENSG00000099834ENST00000358353p.S452Sc.1356C>ASubstitution - coding silent
ST14ENSG00000149418ENST00000278742p.A634Tc.1900G>ASubstitution - Missense
XPNPEP1ENSG00000108039ENST00000369680p.R535Hc.1604G>ASubstitution - Missense
PRAMEF1ENSG00000116721ENST00000332296p.L284Mc.850C>ASubstitution - Missense
ENST00000359762p.R298Cc.892C>TSubstitution - Missense
ATG2AENSG00000110046ENST00000377264p.?c.4119+7G>TUnknown
SLC5A12ENSG00000148942ENST00000396005p.D474Nc.1420G>ASubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.V1309Mc.3925G>ASubstitution - Missense
CITENSG00000122966ENST00000392521p.F1099fs*37c.3297delTDeletion - Frameshift
HS3ST6ENSG00000162040ENST00000443547p.R134Hc.401G>ASubstitution - Missense
ZBTB41ENSG00000177888ENST00000367405p.M243fs*38c.727delADeletion - Frameshift
CCP110ENSG00000103540ENST00000396212p.A710Tc.2128G>ASubstitution - Missense
MPP7ENSG00000150054ENST00000375732p.Y239Yc.717T>CSubstitution - coding silent
ANO5ENSG00000171714ENST00000324559p.Y589Yc.1767C>TSubstitution - coding silent
DENRENSG00000139726ENST00000280557p.A156Ac.468C>TSubstitution - coding silent
FA2HENSG00000103089ENST00000219368p.G298Dc.893G>ASubstitution - Missense
ZBTB25ENSG00000089775ENST00000394715p.Q17Qc.51G>ASubstitution - coding silent
PTPN21ENSG00000070778ENST00000328736p.G6fs*26c.12_13insTInsertion - Frameshift
AGRNENSG00000188157ENST00000379370p.N130Kc.390C>ASubstitution - Missense
C5orf42ENSG00000197603ENST00000425232p.?c.5900+5G>AUnknown
NIPBLENSG00000164190ENST00000448238p.?c.5575-4T>CUnknown
TTNENSG00000155657ENST00000360870p.D3094Dc.9282C>TSubstitution - coding silent
ENST00000356127p.D4083Nc.12247G>ASubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.S417Sc.1251C>ASubstitution - coding silent
SPNS3ENSG00000182557ENST00000355530p.A7Tc.19G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S10863Tc.32587T>ASubstitution - Missense
RHPN2ENSG00000131941ENST00000254260p.H420Hc.1260C>TSubstitution - coding silent
RPA1ENSG00000132383ENST00000254719p.G179fs*46c.532delGDeletion - Frameshift
FOXK2ENSG00000141568ENST00000335255p.?c.612_615-4del4505Unknown
ENST00000420871_v68p.A867Sc.2599G>TSubstitution - Missense
RBM6ENSG00000004534ENST00000266022p.D229Dc.687C>TSubstitution - coding silent
DOPEY2ENSG00000142197ENST00000399151p.E913Kc.2737G>ASubstitution - Missense
NM_147171.1p.L2481Rc.7442T>GSubstitution - Missense
KRTAP9-2ENSG00000239886ENST00000377723p.S95Sc.285C>TSubstitution - coding silent
DLG5ENSG00000151208ENST00000372391p.D1474Dc.4422C>TSubstitution - coding silent
SLC4A11ENSG00000088836ENST00000380056p.F84fs*32c.252delTDeletion - Frameshift
S100A8ENSG00000143546ENST00000368732p.S86fs*>8c.256delADeletion - Frameshift
PLXNA4ENSG00000221866ENST00000321063p.R420Cc.1258C>TSubstitution - Missense
SPRY2ENSG00000136158ENST00000377104p.A238Tc.712G>ASubstitution - Missense
GABPB1ENSG00000104064ENST00000429662p.R23Hc.68G>ASubstitution - Missense
NM_003582p.V547Ic.1639G>ASubstitution - Missense
NRP1ENSG00000099250ENST00000374823p.E374Ac.1121A>CSubstitution - Missense
TECTAENSG00000109927ENST00000392793p.P2079Sc.6235C>TSubstitution - Missense
PDE8AENSG00000073417ENST00000310298p.A227Ac.681A>GSubstitution - coding silent
POLEENSG00000177084ENST00000320574p.R847Qc.2540G>ASubstitution - Missense
TACC2ENSG00000138162ENST00000369005p.P516fs*95c.1543delCDeletion - Frameshift
FGFR2ENSG00000066468ENST00000351936p.L770Ic.2308C>ASubstitution - Missense
TMCC3ENSG00000057704ENST00000261226p.T402Tc.1206A>GSubstitution - coding silent
GOLGA8MENSG00000188626ENST00000563027p.S553Fc.1658C>TSubstitution - Missense
RC3H1ENSG00000135870ENST00000258349p.P491Pc.1473T>ASubstitution - coding silent
TMOD4ENSG00000163157ENST00000295314p.V226Mc.676G>ASubstitution - Missense
STARD9ENSG00000159433ENST00000290607p.E743Dc.2229G>TSubstitution - Missense
RTN3ENSG00000133318ENST00000341307p.K214fs*>28c.635_636delAADeletion - Frameshift
COPB1ENSG00000129083ENST00000249923p.R612Rc.1836A>GSubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.S3752Fc.11255C>TSubstitution - Missense
IPMKENSG00000151151ENST00000373935p.S151fs*20c.451delADeletion - Frameshift
NEBLENSG00000078114ENST00000417816p.G234Sc.700G>ASubstitution - Missense
SFSWAPENSG00000061936ENST00000261674p.D375Dc.1125C>TSubstitution - coding silent
ZNF384ENSG00000126746ENST00000396801p.A554Vc.1661C>TSubstitution - Missense
ENST00000407384_v68p.R86Hc.257G>ASubstitution - Missense
DDX11ENSG00000013573ENST00000542838p.A381Ac.1143G>ASubstitution - coding silent
SLC26A9ENSG00000174502ENST00000367134p.?c.1389+6T>CUnknown
CLEC18BENSG00000140839ENST00000339953p.A174Ac.522G>ASubstitution - coding silent
UNC79ENSG00000133958ENST00000256339p.N872fs*14c.2615_2616insAInsertion - Frameshift
MDGA2ENSG00000139915ENST00000426342p.T552Sc.1654A>TSubstitution - Missense
UNKENSG00000132478ENST00000293218p.C257Rc.769T>CSubstitution - Missense
SOGA1ENSG00000149639ENST00000279034p.E694Dc.2082A>TSubstitution - Missense
SOGA1ENSG00000149639ENST00000237536p.E932Dc.2796A>TSubstitution - Missense
MCM8ENSG00000125885ENST00000378896p.G7Gc.21C>TSubstitution - coding silent
ZNF341ENSG00000131061ENST00000342427p.P207fs*40c.615delCDeletion - Frameshift
EPHA3ENSG00000044524ENST00000336596p.N755Ic.2264A>TSubstitution - Missense
ANKRD36ENSG00000135976ENST00000461153p.?c.1261-4C>TUnknown
ENST00000420871_v68p.L766Vc.2296C>GSubstitution - Missense
ENST00000273612p.T895Tc.2685T>CSubstitution - coding silent
GABRB1ENSG00000163288ENST00000295454p.R375Qc.1124G>ASubstitution - Missense
TLR10ENSG00000174123ENST00000361424p.R761Mc.2282G>TSubstitution - Missense
MBD1ENSG00000141644ENST00000382948p.A56Vc.167C>TSubstitution - Missense
HOXD9ENSG00000128709ENST00000249499p.R337Mc.1010G>TSubstitution - Missense
DNMT3BENSG00000088305ENST00000328111p.?c.205-3A>TUnknown
LTBP1ENSG00000049323ENST00000407925p.?c.4007-6T>AUnknown
CLEC10AENSG00000132514ENST00000254868p.?c.521-5A>GUnknown
ENSG00000183154ENST00000330539p.R112*c.334C>TSubstitution - Nonsense
UGT8ENSG00000174607ENST00000394511p.R314fs*6c.936delGDeletion - Frameshift
INPP5DENSG00000168918ENST00000359570p.?c.1437+6C>TUnknown
UGT1A6ENSG00000167165ENST00000305139p.C155Yc.464G>ASubstitution - Missense
IL1F10ENSG00000136697ENST00000337569p.S138Rc.412A>CSubstitution - Missense
PSD4ENSG00000125637ENST00000245796p.T150Mc.449C>TSubstitution - Missense
ABCB1ENSG00000085563ENST00000265724p.Q347Hc.1041G>TSubstitution - Missense
USP49ENSG00000164663ENST00000373006p.F468Fc.1404T>CSubstitution - coding silent
STK36ENSG00000163482ENST00000295709p.L1133Lc.3397C>TSubstitution - coding silent
RSPH6AENSG00000104941ENST00000221538p.N424Kc.1272C>ASubstitution - Missense
C5AR2ENSG00000134830ENST00000257267p.T144Mc.431C>TSubstitution - Missense
ENTPD2ENSG00000054179ENST00000355097p.C265Cc.795C>TSubstitution - coding silent
GRIK2ENSG00000164418ENST00000318991p.G237Gc.711C>TSubstitution - coding silent
LGI2ENSG00000153012ENST00000382114p.T374Mc.1121C>TSubstitution - Missense
EML4ENSG00000143924ENST00000318522p.M390Ic.1170G>ASubstitution - Missense
BACH2ENSG00000112182ENST00000257749p.Q130*c.388C>TSubstitution - Nonsense
AMBRA1ENSG00000110497ENST00000314845p.A984Ac.2952C>ASubstitution - coding silent
TENC1ENSG00000111077ENST00000314276p.D1035fs*40c.3095_3096insCInsertion - Frameshift
FCRL1ENSG00000163534ENST00000358292p.G122Gc.366A>TSubstitution - coding silent
NFATC4ENSG00000100968ENST00000413692p.P24Pc.72A>GSubstitution - coding silent
PTPREENSG00000132334ENST00000306042p.?c.414+10C>TUnknown
EDDM3BENSG00000181552ENST00000326783p.I123Ic.369T>ASubstitution - coding silent
GOLGA3ENSG00000090615ENST00000204726p.N495fs*25c.1484delADeletion - Frameshift
SHANK2ENSG00000162105ENST00000338508p.S23Lc.68C>TSubstitution - Missense
NXF1ENSG00000162231ENST00000294172p.R38Cc.112C>TSubstitution - Missense
KCNK7ENSG00000173338ENST00000340313p.V78Vc.234C>ASubstitution - coding silent
CCDC19ENSG00000213085ENST00000368099p.G99Rc.295G>ASubstitution - Missense
SNX19ENSG00000120451ENST00000265909p.D786fs*35c.2355delADeletion - Frameshift
OCA2ENSG00000104044ENST00000382996p.V467Ac.1400T>CSubstitution - Missense
ASAH2BENSG00000204147ENST00000374006p.T22Tc.66C>ASubstitution - coding silent
CACNA1EENSG00000198216ENST00000367573p.D1431fs*3c.4288delGDeletion - Frameshift
ENST00000271311_v71p.T72Ac.214A>GSubstitution - Missense
ELF3ENSG00000163435ENST00000359651p.A186Tc.556G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.N19fs*34c.55_56insGAInsertion - Frameshift
PDE4DIPENSG00000178104ENST00000313382p.N85fs*34c.249_250insGAInsertion - Frameshift
USP28ENSG00000048028ENST00000003302p.D1017Nc.3049G>ASubstitution - Missense
ADAMTS17ENSG00000140470ENST00000268070p.A947Vc.2840C>TSubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.N1049fs*14c.3146_3147insAInsertion - Frameshift
ENST00000356127p.D3094Dc.9282C>TSubstitution - coding silent
SPTLC3ENSG00000172296ENST00000399002p.V104Vc.312G>ASubstitution - coding silent
BPIFB3ENSG00000186190ENST00000375494p.D257Dc.771T>CSubstitution - coding silent
SLC13A2ENSG00000007216ENST00000314669p.C224Cc.672C>TSubstitution - coding silent
ANKRD36CENSG00000174501ENST00000456556p.A1616Sc.4846G>TSubstitution - Missense
ENST00000399313p.?c.3119+2T>CUnknown
SAMD9ENSG00000205413ENST00000379958p.K1295Nc.3885G>TSubstitution - Missense
NM_003319p.P25342Sc.76024C>TSubstitution - Missense
SP3ENSG00000172845ENST00000310015p.H703Qc.2109C>GSubstitution - Missense
ADCY9ENSG00000162104ENST00000294016p.A526Tc.1576G>ASubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.D1050Dc.3150C>TSubstitution - coding silent
HUWE1ENSG00000086758ENST00000342160p.?c.11476+10A>GUnknown
ADAMTS12ENSG00000151388ENST00000504830p.H313Hc.939T>CSubstitution - coding silent
PAX3ENSG00000135903ENST00000409828p.W210*c.629G>ASubstitution - Nonsense
CNTNAP5ENSG00000155052ENST00000431078p.P473fs*31c.1414delCDeletion - Frameshift
DMDENSG00000198947ENST00000357033p.L2351Lc.7051T>CSubstitution - coding silent
CUX1ENSG00000257923ENST00000292535p.E877*c.2629G>TSubstitution - Nonsense
COL6A6ENSG00000206384ENST00000358511p.T1202Tc.3606T>CSubstitution - coding silent
ARHGAP8ENSG00000241484ENST00000389774p.T323Tc.969C>ASubstitution - coding silent
XPCENSG00000154767ENST00000285021p.S225Nc.674G>ASubstitution - Missense
NFATC2IPENSG00000176953ENST00000320805p.V333Vc.999G>ASubstitution - coding silent
RSPH6AENSG00000104941ENST00000221538p.?c.889-6G>AUnknown
C6orf201ENSG00000185689ENST00000380175p.I66fs*7c.196_197insAInsertion - Frameshift
PDE4CENSG00000105650ENST00000355502p.I582Nc.1745T>ASubstitution - Missense
XRCC4ENSG00000152422ENST00000282268p.R278Ic.833G>TSubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.R3289Hc.9866G>ASubstitution - Missense
RABEP1ENSG00000029725ENST00000262477p.Q109Pc.326A>CSubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.C364Yc.1091G>ASubstitution - Missense
ENST00000376422p.?c.525+9C>TUnknown
RASEFENSG00000165105ENST00000376447p.Q238Qc.714G>ASubstitution - coding silent
CYFIP2ENSG00000055163ENST00000442283p.E1065Ec.3195G>ASubstitution - coding silent
PCDHA12ENSG00000251664ENST00000398631p.V352Ic.1054G>ASubstitution - Missense
MED23ENSG00000112282ENST00000540546p.A246Vc.737C>TSubstitution - Missense
GRM4ENSG00000124493ENST00000374181p.V905Ic.2713G>ASubstitution - Missense
LMX1BENSG00000136944ENST00000355497p.K91Ec.271A>GSubstitution - Missense
ENST00000380369p.G23Gc.69T>GSubstitution - coding silent
BBS5ENSG00000163093ENST00000295240p.K242fs*38c.722delADeletion - Frameshift
COL16A1ENSG00000084636ENST00000271069p.P662Lc.1985C>TSubstitution - Missense
GLT1D1ENSG00000151948ENST00000442111p.A38Ac.114C>ASubstitution - coding silent
EML3ENSG00000149499ENST00000529309p.R42Hc.125G>ASubstitution - Missense
IL1RL1ENSG00000115602ENST00000393393p.Q60Hc.180G>CSubstitution - Missense
NRXN1ENSG00000179915ENST00000402717p.E222Kc.664G>ASubstitution - Missense
ZNF248ENSG00000198105ENST00000395867p.G276Gc.828G>TSubstitution - coding silent
GYLTL1BENSG00000165905ENST00000325468p.G702Gc.2106G>TSubstitution - coding silent
ENST00000412131p.P1679Sc.5035C>TSubstitution - Missense
MCRS1ENSG00000187778ENST00000357123p.Q162Hc.486G>TSubstitution - Missense
EPHB2ENSG00000133216ENST00000374632p.V379Ac.1136T>CSubstitution - Missense
FOLR1ENSG00000110195ENST00000393676p.S149Sc.447C>TSubstitution - coding silent
SERPINC1ENSG00000117601ENST00000367698p.H33Hc.99C>TSubstitution - coding silent
ARID2ENSG00000189079ENST00000334344p.S551*c.1652C>ASubstitution - Nonsense
COL16A1ENSG00000084636ENST00000373672p.P663Lc.1988C>TSubstitution - Missense
SIPA1ENSG00000213445ENST00000394224p.A162Ac.486A>CSubstitution - coding silent
ANO5ENSG00000171714ENST00000324559p.T793Ac.2377A>GSubstitution - Missense
SLC18A3ENSG00000187714ENST00000374115p.S480Sc.1440C>TSubstitution - coding silent
HTATIP2ENSG00000109854ENST00000532081p.D86Dc.258T>CSubstitution - coding silent
LAYNENSG00000204381ENST00000375614p.C142Cc.426C>TSubstitution - coding silent
SHC1ENSG00000160691ENST00000448116p.V363fs*3c.1087_1088insGGInsertion - Frameshift
FAM214AENSG00000047346ENST00000261844p.S1032Tc.3094T>ASubstitution - Missense
SERPINA4ENSG00000100665ENST00000557004p.V276Mc.826G>ASubstitution - Missense
SLC44A3ENSG00000143036ENST00000467909p.V541fs*11c.1620_1621delTGDeletion - Frameshift
C20orf26ENSG00000089101ENST00000245957p.I300fs*1c.893delADeletion - Frameshift
ANKARENSG00000151687ENST00000313581p.G1363Cc.4087G>TSubstitution - Missense
RBM39ENSG00000131051ENST00000253363p.Q280*c.838C>TSubstitution - Nonsense
WDR81ENSG00000167716ENST00000409644p.P1309Hc.3926C>ASubstitution - Missense
KIF13BENSG00000197892ENST00000524189p.E554Ac.1661A>CSubstitution - Missense
CCL21ENSG00000137077ENST00000259607p.Q84*c.250C>TSubstitution - Nonsense
SCN4AENSG00000007314ENST00000435607p.A1068Tc.3202G>ASubstitution - Missense
CCNIENSG00000118816ENST00000237654p.I215Ic.645T>CSubstitution - coding silent
SLC4A4ENSG00000080493ENST00000425175p.K1035Qc.3103A>CSubstitution - Missense
PBRM1ENSG00000163939ENST00000337303p.G1231*c.3691G>TSubstitution - Nonsense
APPENSG00000142192ENST00000346798p.R100Qc.299G>ASubstitution - Missense
ENST00000292520p.A172Dc.515C>ASubstitution - Missense
HCKENSG00000101336ENST00000538448p.A382Vc.1145C>TSubstitution - Missense
SLX4ENSG00000188827ENST00000294008p.S228Lc.683C>TSubstitution - Missense
CHRNA4ENSG00000101204ENST00000370263p.S258Sc.774C>ASubstitution - coding silent
KCNN2ENSG00000080709ENST00000264773p.V406Mc.1216G>ASubstitution - Missense
TIAM2ENSG00000146426ENST00000318981p.?c.3832+7C>TUnknown
MAGEB17ENSG00000182798ENST00000400004p.P98Pc.294G>ASubstitution - coding silent
MAGEB17ENSG00000182798ENST00000329538p.P98Pc.294G>ASubstitution - coding silent
UGT1A8ENSG00000241635ENST00000305208p.C223Cc.669C>TSubstitution - coding silent
CDCP1ENSG00000163814ENST00000296129p.P245Pc.735T>CSubstitution - coding silent
MDGA1ENSG00000112139ENST00000297153p.V662Vc.1986G>ASubstitution - coding silent
ADSLENSG00000239900ENST00000216194p.C98Cc.294C>TSubstitution - coding silent
SARDHENSG00000123453ENST00000371872p.L125Fc.373C>TSubstitution - Missense
HCFC1ENSG00000172534ENST00000310441p.P985Lc.2954C>TSubstitution - Missense
POU3F2ENSG00000184486ENST00000328345p.P258Lc.773C>TSubstitution - Missense
OGDHENSG00000105953ENST00000443864p.K387Nc.1161G>TSubstitution - Missense
SLC4A10ENSG00000144290ENST00000446997p.T825Ic.2474C>TSubstitution - Missense
EVCENSG00000072840ENST00000264956p.V948fs*22c.2838delGDeletion - Frameshift
NM_007349.2p.L881Mc.2641C>ASubstitution - Missense
TDRD6ENSG00000180113ENST00000316081p.V1088Vc.3264C>TSubstitution - coding silent
MAPK8ENSG00000107643ENST00000374174p.G177*c.529G>TSubstitution - Nonsense
PCDH9ENSG00000184226ENST00000377861p.P930Pc.2790T>ASubstitution - coding silent
CYP2A7ENSG00000198077ENST00000291764p.A186Tc.556G>ASubstitution - Missense
SLC8A1ENSG00000183023ENST00000542024p.T876Ic.2627C>TSubstitution - Missense
PTPRTENSG00000196090ENST00000373184p.R270Hc.809G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.Y220Cc.659A>GSubstitution - Missense
COBLENSG00000106078ENST00000395542p.E1147*c.3439G>TSubstitution - Nonsense
DDX3XENSG00000215301ENST00000399959p.R528Hc.1583G>ASubstitution - Missense
WBP1ENSG00000239779ENST00000233615p.H185fs*10c.552delTDeletion - Frameshift
ZCCHC4ENSG00000168228ENST00000302874p.F320fs*19c.954delTDeletion - Frameshift
CXXC5ENSG00000171604ENST00000302517p.E57fs*40c.163delCDeletion - Frameshift
SMARCAD1ENSG00000163104ENST00000354268p.N347fs*24c.1033delADeletion - Frameshift
DHRS12ENSG00000102796ENST00000218981p.Q158Rc.473A>GSubstitution - Missense
ENST00000377560_v62p.A4021Tc.12061G>ASubstitution - Missense
EPHB6ENSG00000106123ENST00000392957p.W56fs*4c.160delGDeletion - Frameshift
HS6ST3ENSG00000185352ENST00000376705p.E280Kc.838G>ASubstitution - Missense
IL16ENSG00000172349ENST00000302987p.K235Rc.704A>GSubstitution - Missense
AKT1ENSG00000142208ENST00000349310p.?c.46+10C>AUnknown
DHRS4ENSG00000157326ENST00000313250p.G161Dc.482G>ASubstitution - Missense
SHANK2ENSG00000162105ENST00000294018p.L1200Lc.3598C>TSubstitution - coding silent
OTOGENSG00000188162ENST00000399397p.D981Yc.2941G>TSubstitution - Missense
ENST00000398860p.L1919Rc.5756T>GSubstitution - Missense
ENST00000373722p.M493Tc.1478T>CSubstitution - Missense
NM_001271.1p.R699Qc.2096G>ASubstitution - Missense
KCNA4ENSG00000182255ENST00000328224p.R98Wc.292C>TSubstitution - Missense
RBP3ENSG00000107618ENST00000224600p.T20Ic.59C>TSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.Q1407Rc.4220A>GSubstitution - Missense
OR11L1ENSG00000197591ENST00000355784p.Q90Qc.270A>GSubstitution - coding silent
SEC16BENSG00000120341ENST00000308284p.E90Qc.268G>CSubstitution - Missense
PADI1ENSG00000142623ENST00000375471p.G145Vc.434G>TSubstitution - Missense
CAMSAP2ENSG00000118200ENST00000358823p.S1451Nc.4352G>ASubstitution - Missense
PLEKHA6ENSG00000143850ENST00000272203p.S820Cc.2458A>TSubstitution - Missense
ARGLU1ENSG00000134884ENST00000400198p.R133Rc.399A>GSubstitution - coding silent
RALGAPA2ENSG00000188559ENST00000430436p.S234Yc.701C>ASubstitution - Missense
B4GALNT2ENSG00000167080ENST00000300404p.V352Ic.1054G>ASubstitution - Missense
GPRASP2ENSG00000158301ENST00000543253p.L694Ic.2080C>ASubstitution - Missense
TFPIENSG00000003436ENST00000409676p.L127fs*36c.380delTDeletion - Frameshift
BPIFB3ENSG00000186190ENST00000375494p.T121Tc.363C>ASubstitution - coding silent
IL17RBENSG00000056736ENST00000288167p.L65Lc.195G>ASubstitution - coding silent
TAF1LENSG00000122728ENST00000242310p.A761Tc.2281G>ASubstitution - Missense
SPATA31A3ENSG00000147926ENST00000356699p.S1180fs*9c.3538_3539insAInsertion - Frameshift
LSM14BENSG00000149657ENST00000279068p.Y312Yc.936T>CSubstitution - coding silent
CEP250ENSG00000126001ENST00000397527p.L248Lc.744G>ASubstitution - coding silent
MROH8ENSG00000101353ENST00000400441p.R442Ic.1325G>TSubstitution - Missense
MAP2K3ENSG00000034152ENST00000361818p.T304Mc.911C>TSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.R1097Cc.3289C>TSubstitution - Missense
ENST00000357589p.G42Wc.124G>TSubstitution - Missense
CX3CL1ENSG00000006210ENST00000006053p.A373Tc.1117G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.E16461Qc.49381G>CSubstitution - Missense
PER2ENSG00000132326ENST00000254657p.A611Tc.1831G>ASubstitution - Missense
TET2ENSG00000168769ENST00000380013p.R1404Qc.4211G>ASubstitution - Missense
ARAFENSG00000078061ENST00000377045p.R279Hc.836G>ASubstitution - Missense
ZNF547ENSG00000152433ENST00000282282p.K219Nc.657A>CSubstitution - Missense
DPP10ENSG00000175497ENST00000310323p.G524*c.1570G>TSubstitution - Nonsense
SYNE1ENSG00000131018ENST00000265368p.G8793Dc.26378G>ASubstitution - Missense
SH2B1ENSG00000178188ENST00000359285p.A455Tc.1363G>ASubstitution - Missense
FYCO1ENSG00000163820ENST00000296137p.L224Lc.672A>TSubstitution - coding silent
PPP4R1ENSG00000154845ENST00000400556p.?c.759+10G>AUnknown
EML4ENSG00000143924ENST00000318522p.?c.1353+1_1353+2insGUnknown
HSF2ENSG00000025156ENST00000368455p.?c.593+2T>CUnknown
RASGRP4ENSG00000171777ENST00000454404p.K41Nc.123G>TSubstitution - Missense
ENSG00000272333ENST00000222270p.G2319Gc.6957C>TSubstitution - coding silent
PCDHA8ENSG00000204962ENST00000531613p.S672Sc.2016C>TSubstitution - coding silent
EPHA5ENSG00000145242ENST00000273854p.C47Cc.141C>TSubstitution - coding silent
CALR3ENSG00000269058ENST00000269881p.D314fs*1c.934_935insTInsertion - Frameshift
TP53ENSG00000141510ENST00000420246p.Y220Cc.659A>GSubstitution - Missense
SCN9AENSG00000169432ENST00000375387p.I1225Tc.3674T>CSubstitution - Missense
EIF2B5ENSG00000145191ENST00000273783p.G542Rc.1624G>ASubstitution - Missense
ZC3H13ENSG00000123200ENST00000242848p.G1193Gc.3579G>ASubstitution - coding silent
OR5L2ENSG00000205030ENST00000378397p.N5Nc.15C>TSubstitution - coding silent
ENST00000305331p.P59Pc.177T>CSubstitution - coding silent
MIA3ENSG00000154305ENST00000340535p.?c.1509-9A>GUnknown
MPRIPENSG00000133030ENST00000395811p.R254Hc.761G>ASubstitution - Missense
ENST00000372155p.M178fs*10c.526_527insAInsertion - Frameshift
PPARGC1BENSG00000155846ENST00000394320p.A577Vc.1730C>TSubstitution - Missense
TPGS2ENSG00000134779ENST00000589049p.G33Cc.97G>TSubstitution - Missense
PKN3ENSG00000160447ENST00000291906p.G850Gc.2550C>TSubstitution - coding silent
MAGI2ENSG00000187391ENST00000535697p.D301Ec.903T>ASubstitution - Missense
CR1ENSG00000203710ENST00000367049p.A1236Ac.3708G>ASubstitution - coding silent
MAPK8ENSG00000107643ENST00000374176p.G177*c.529G>TSubstitution - Nonsense
CHATENSG00000070748ENST00000395562p.E359Kc.1075G>ASubstitution - Missense
EXPH5ENSG00000110723ENST00000265843p.H1515Yc.4543C>TSubstitution - Missense
SLC6A5ENSG00000165970ENST00000525748p.P760Pc.2280A>GSubstitution - coding silent
SMG7ENSG00000116698ENST00000507469p.A229Tc.685G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.N19fs*34c.51_52insGAInsertion - Frameshift
HIP1RENSG00000130787ENST00000253083p.T1035delTc.3100_3102delACCDeletion - In frame
SPINT1ENSG00000166145ENST00000344051p.N430Nc.1290C>TSubstitution - coding silent
RFWD3ENSG00000168411ENST00000361070p.V49fs*12c.145delGDeletion - Frameshift
MEGF11ENSG00000157890ENST00000409699p.?c.762+5G>AUnknown
RRBP1ENSG00000125844ENST00000360807p.Q7Pc.20A>CSubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.R1307fs*17c.3911_3912insCInsertion - Frameshift
SOX15ENSG00000129194ENST00000250055p.L46Lc.138G>ASubstitution - coding silent
KIF13BENSG00000197892ENST00000524189p.E554Ac.1661A>CSubstitution - Missense
FSCN3ENSG00000106328ENST00000265825p.C262Cc.786C>TSubstitution - coding silent
TMEM8BENSG00000137103ENST00000377988p.V96Lc.286G>CSubstitution - Missense
LMOD2ENSG00000170807ENST00000458573p.P47Pc.141C>TSubstitution - coding silent
ENST00000375206p.G885Cc.2653G>TSubstitution - Missense
NM_014916p.V465Vc.1395G>ASubstitution - coding silent
CHRNA9ENSG00000174343ENST00000310169p.W145*c.435G>ASubstitution - Nonsense
GREB1LENSG00000141449ENST00000424526p.M627fs*18c.1879_1880insAInsertion - Frameshift
ZNF532ENSG00000074657ENST00000336078p.A525Tc.1573G>ASubstitution - Missense
ENST00000356127p.E25754Vc.77261A>TSubstitution - Missense
CHRNA1ENSG00000138435ENST00000261007p.C237Yc.710G>ASubstitution - Missense
ENST00000356127p.G8523Vc.25568G>TSubstitution - Missense
MYH3ENSG00000109063ENST00000226209p.Q1371Rc.4112A>GSubstitution - Missense
HNRNPDENSG00000138668ENST00000313899p.V208Vc.624G>ASubstitution - coding silent
CASKENSG00000147044ENST00000378166p.T668Ic.2003C>TSubstitution - Missense
ZNF879ENSG00000234284ENST00000444149p.T347Ac.1039A>GSubstitution - Missense
MAP3K5ENSG00000197442ENST00000359015p.S449Sc.1347C>ASubstitution - coding silent
HNRNPH1ENSG00000169045ENST00000393432p.R29Mc.86G>TSubstitution - Missense
SPTBN1ENSG00000115306ENST00000333896p.H481Hc.1443C>TSubstitution - coding silent
CCDC108ENSG00000181378ENST00000341552p.A387Ac.1161G>ASubstitution - coding silent
ENST00000378682p.L1010Lc.3028T>CSubstitution - coding silent
ROCK2ENSG00000134318ENST00000315872p.L1030Lc.3090C>GSubstitution - coding silent
ZCWPW1ENSG00000078487ENST00000398027p.I320Ic.960C>TSubstitution - coding silent
GPR98ENSG00000164199ENST00000405460p.E3600Vc.10799A>TSubstitution - Missense
NM_002912.1p.R2447Sc.7339C>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.E222Kc.664G>ASubstitution - Missense
ZNF540ENSG00000171817ENST00000316433p.G239Dc.716G>ASubstitution - Missense
PCDHAC2ENSG00000243232ENST00000289269p.G529Dc.1586G>ASubstitution - Missense
ZNF786ENSG00000197362ENST00000491431p.P424Pc.1272G>ASubstitution - coding silent
CFTRENSG00000001626ENST00000003084p.P1378Qc.4133C>ASubstitution - Missense
CCT6AENSG00000146731ENST00000275603p.L463delLc.1386_1388delATTDeletion - In frame
GRB14ENSG00000115290ENST00000263915p.R407Kc.1220G>ASubstitution - Missense
PAXIP1ENSG00000157212ENST00000404141p.L915Mc.2743C>ASubstitution - Missense
SPTAN1ENSG00000197694ENST00000372731p.V1128Vc.3384G>ASubstitution - coding silent
OR4C46ENSG00000185926ENST00000328188p.E102*c.304G>TSubstitution - Nonsense
NRP1ENSG00000099250ENST00000432372p.E47Ac.140A>CSubstitution - Missense
AKNAD1ENSG00000162641ENST00000357393p.P277Sc.829C>TSubstitution - Missense
MYO16ENSG00000041515ENST00000251041p.A67Tc.199G>ASubstitution - Missense
CTNND1ENSG00000198561ENST00000361391p.M909Lc.2725A>CSubstitution - Missense
PODXLENSG00000128567ENST00000537928p.S162fs*5c.480delGDeletion - Frameshift
SUN3ENSG00000164744ENST00000453192p.K280fs*9c.840delADeletion - Frameshift
TRERF1ENSG00000124496ENST00000372917p.R1030*c.3088C>TSubstitution - Nonsense
XRCC4ENSG00000152422ENST00000338635p.R278Ic.833G>TSubstitution - Missense
NM_005689.1p.G318fs*9c.953delGDeletion - Frameshift
DENND3ENSG00000105339ENST00000262585p.C723fs*1c.2160_2161delGTDeletion - Frameshift
CSGALNACT1ENSG00000147408ENST00000332246p.T532fs?c.1594delADeletion - Frameshift
FERMT2ENSG00000073712ENST00000395631p.K152fs*4c.455delADeletion - Frameshift
KLHL38ENSG00000175946ENST00000325995p.R321Wc.961C>TSubstitution - Missense
PCDH9ENSG00000184226ENST00000377865p.P930Pc.2790T>ASubstitution - coding silent
ZNF10ENSG00000256223ENST00000248211p.V512Ac.1535T>CSubstitution - Missense
IGFBP6ENSG00000167779ENST00000301464p.G161Gc.483C>TSubstitution - coding silent
TSR1ENSG00000167721ENST00000301364p.T681Ic.2042C>TSubstitution - Missense
LPLENSG00000175445ENST00000311322p.Q360Hc.1080G>TSubstitution - Missense
ENST00000411702p.Q5172Qc.15516G>ASubstitution - coding silent
YTHDC1ENSG00000083896ENST00000344157p.E238Gc.713A>GSubstitution - Missense
BRWD1ENSG00000185658ENST00000342449p.R393Qc.1178G>ASubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.A748Vc.2243C>TSubstitution - Missense
ENST00000273600p.A748Vc.2243C>TSubstitution - Missense
LRRC16AENSG00000079691ENST00000329474p.?c.3119+2T>CUnknown
MCM3APENSG00000160294ENST00000397708p.R883Wc.2647C>TSubstitution - Missense
ALS2CR11ENSG00000155754ENST00000439140p.T1366fs*44c.4096delADeletion - Frameshift
DLX1ENSG00000144355ENST00000361725p.?c.313+4C>TUnknown
YTHDF1ENSG00000149658ENST00000370339p.A450Ac.1350C>TSubstitution - coding silent
KCNU1ENSG00000215262ENST00000399881p.T863Tc.2589T>ASubstitution - coding silent
SU_EPHA6p.G14fs*26c.39_40insTInsertion - Frameshift
NDNFENSG00000173376ENST00000379692p.T375Tc.1125C>ASubstitution - coding silent
CCDC170ENSG00000120262ENST00000239374p.Y323Hc.967T>CSubstitution - Missense
PDE10AENSG00000112541ENST00000366882p.I367Sc.1100T>GSubstitution - Missense
SH2B1ENSG00000178188ENST00000322610p.A455Tc.1363G>ASubstitution - Missense
CPT1BENSG00000205560ENST00000395650p.?c.2143-1G>AUnknown
CACNA1IENSG00000100346ENST00000402142p.P35Pc.105G>ASubstitution - coding silent
TRIP13ENSG00000071539ENST00000166345p.S380Sc.1140C>TSubstitution - coding silent
SPATA9ENSG00000145757ENST00000274432p.?c.62-1G>TUnknown
RHOQENSG00000119729ENST00000238738p.L59Lc.175C>TSubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.L3460Lc.10380G>ASubstitution - coding silent
SLC6A19ENSG00000174358ENST00000304460p.T256fs*49c.767delCDeletion - Frameshift
CCL1ENSG00000108702ENST00000225842p.A38fs*23c.112_113insTInsertion - Frameshift
ZNF746ENSG00000181220ENST00000340622p.T639Tc.1917C>TSubstitution - coding silent
ZNF622ENSG00000173545ENST00000308683p.S434Nc.1301G>ASubstitution - Missense
CFTRENSG00000001626ENST00000003084p.W79fs*32c.233_234insTInsertion - Frameshift
ENST00000314735p.G62Gc.186C>TSubstitution - coding silent
FAM129CENSG00000167483ENST00000332386p.R200Hc.599G>ASubstitution - Missense
AADATENSG00000109576ENST00000337664p.T196Ic.587C>TSubstitution - Missense
WDR34ENSG00000119333ENST00000372715p.T140Ic.419C>TSubstitution - Missense
PKHD1ENSG00000170927ENST00000340994p.L1614Mc.4840C>ASubstitution - Missense
C9orf43ENSG00000157653ENST00000374165p.R30Hc.89G>ASubstitution - Missense
CTNND1ENSG00000198561ENST00000399050p.M936Lc.2806A>CSubstitution - Missense
HBBENSG00000244734ENST00000335295p.L92Lc.274C>TSubstitution - coding silent
ATP13A1ENSG00000105726ENST00000291503p.Y63Yc.189C>TSubstitution - coding silent
KIF21BENSG00000116852ENST00000422435p.G1154Cc.3460G>TSubstitution - Missense
ASTN1ENSG00000152092ENST00000367654p.R373Ic.1118G>TSubstitution - Missense
ENSG00000214325ENST00000398113p.N99fs*8c.289_290insAInsertion - Frameshift
C9orf131ENSG00000174038ENST00000421362p.L879Mc.2635C>ASubstitution - Missense
STAT5AENSG00000126561ENST00000452307p.A517Tc.1549G>ASubstitution - Missense
GRAP2ENSG00000100351ENST00000540310p.A212Vc.635C>TSubstitution - Missense
CADPS2ENSG00000081803ENST00000313070p.V796Vc.2388G>CSubstitution - coding silent
MORN5ENSG00000185681ENST00000536616p.G33Gc.99G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T3023Nc.9068C>ASubstitution - Missense
ENST00000299136p.G114Rc.340G>ASubstitution - Missense
GLYR1ENSG00000140632ENST00000321919p.R381fs*20c.1140delGDeletion - Frameshift
ENST00000300576_v68p.A289Ac.867A>GSubstitution - coding silent
ISLR2ENSG00000167178ENST00000361742p.R150Cc.448C>TSubstitution - Missense
AMBRA1ENSG00000110497ENST00000458649p.P272Pc.816G>ASubstitution - coding silent
SORL1ENSG00000137642ENST00000260197p.T2094Mc.6281C>TSubstitution - Missense
SIVA1ENSG00000184990ENST00000329967p.V65Ic.193G>ASubstitution - Missense
MS4A6EENSG00000166926ENST00000300182p.G56Rc.166G>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.S1822fs*37c.5464delTDeletion - Frameshift
TDRD1ENSG00000095627ENST00000251864p.G961Rc.2881G>ASubstitution - Missense
SEC23IPENSG00000107651ENST00000369075p.A718Tc.2152G>ASubstitution - Missense
ENST00000336486p.?c.1584+10C>TUnknown
SPENENSG00000065526ENST00000375759p.Q1112Qc.3336G>ASubstitution - coding silent
OLFML2BENSG00000162745ENST00000294794p.P435Pc.1305G>ASubstitution - coding silent
RPTNENSG00000215853ENST00000316073p.S7Nc.20G>ASubstitution - Missense
SYCP1ENSG00000198765ENST00000369518p.A957Vc.2870C>TSubstitution - Missense
KAT5ENSG00000172977ENST00000341318p.A134Dc.401C>ASubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.V522Vc.1566G>ASubstitution - coding silent
DSG3ENSG00000134757ENST00000257189p.D817Dc.2451T>CSubstitution - coding silent
TBC1D3ENSG00000197681ENST00000537432p.T315Tc.945G>ASubstitution - coding silent
ANKRD36CENSG00000174501ENST00000420871p.A867Sc.2599G>TSubstitution - Missense
SIK1ENSG00000142178ENST00000270162p.L749Mc.2245C>ASubstitution - Missense
CECR1ENSG00000093072ENST00000399837p.A35Ac.105G>ASubstitution - coding silent
GP6ENSG00000088053ENST00000310373p.S250Sc.750T>CSubstitution - coding silent
LRRCC1ENSG00000133739ENST00000360375p.N208Sc.623A>GSubstitution - Missense
D2HGDHENSG00000180902ENST00000321264p.?c.1140+6C>TUnknown
C2orf71ENSG00000179270ENST00000331664p.E228delEc.682_684delGAGDeletion - In frame
SENP5ENSG00000119231ENST00000323460p.T384delTc.1150_1152delACCDeletion - In frame
RPS7ENSG00000171863ENST00000304921p.?c.292-7C>AUnknown
ENST00000317311p.Y12Yc.36C>TSubstitution - coding silent
LARP1BENSG00000138709ENST00000326639p.P455Qc.1364C>ASubstitution - Missense
KIAA1257ENSG00000114656ENST00000265068p.S249Sc.747G>ASubstitution - coding silent
NBEAL2ENSG00000160796ENST00000450053p.?c.7603-1G>TUnknown
GRIN1ENSG00000176884ENST00000371561p.?c.2590-10T>CUnknown
CD86ENSG00000114013ENST00000330540p.L130Pc.389T>CSubstitution - Missense
FASTKD3ENSG00000124279ENST00000264669p.S47Lc.140C>TSubstitution - Missense
RREB1ENSG00000124782ENST00000379938p.P482Tc.1444C>ASubstitution - Missense
CNTNAP1ENSG00000108797ENST00000264638p.G828fs*57c.2478delGDeletion - Frameshift
TMEM178AENSG00000152154ENST00000281961p.G273Cc.817G>TSubstitution - Missense
ENST00000575751_v68p.P210Rc.629C>GSubstitution - Missense
MED23ENSG00000112282ENST00000403834p.?c.877-6C>TUnknown
MANEAENSG00000172469ENST00000369293p.P97Pc.291A>GSubstitution - coding silent
PPM1FENSG00000100034ENST00000263212p.E53delEc.158_160delAGGDeletion - In frame
SLC5A11ENSG00000158865ENST00000347898p.A383Vc.1148C>TSubstitution - Missense
SYDE1ENSG00000105137ENST00000342784p.D523Yc.1567G>TSubstitution - Missense
KIAA0947ENSG00000164151ENST00000296564p.E597fs*8c.1784delADeletion - Frameshift
SLC9A3ENSG00000066230ENST00000264938p.K679Ec.2035A>GSubstitution - Missense
CD163L1ENSG00000177675ENST00000313599p.R1118Rc.3354C>TSubstitution - coding silent
LRP2ENSG00000081479ENST00000263816p.G2597Gc.7791C>TSubstitution - coding silent
RXFP1ENSG00000171509ENST00000307765p.I353Nc.1058T>ASubstitution - Missense
CDC14AENSG00000079335ENST00000361544p.N177Kc.531T>ASubstitution - Missense
ITGA7ENSG00000135424ENST00000257880p.L948Lc.2842C>TSubstitution - coding silent
MYH10ENSG00000133026ENST00000396239p.G404Gc.1212C>TSubstitution - coding silent
TIAM2ENSG00000146426ENST00000367174p.?c.1960+7C>TUnknown
MPRIPENSG00000133030ENST00000341712p.R254Hc.761G>ASubstitution - Missense
DHRS12ENSG00000102796ENST00000280056p.Q158Rc.473A>GSubstitution - Missense
SASS6ENSG00000156876ENST00000287482p.G628Dc.1883G>ASubstitution - Missense
PPCDCENSG00000138621ENST00000342932p.C173Cc.519C>TSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.Y5106fs*42c.15315delCDeletion - Frameshift
NM_017449p.V379Ac.1136T>CSubstitution - Missense
ENST00000402751p.P305Sc.913C>TSubstitution - Missense
FAM154BENSG00000188659ENST00000339465p.G75fs*35c.217delADeletion - Frameshift
XM_371214.3p.A160Vc.479C>TSubstitution - Missense
SHANK2ENSG00000162105ENST00000338508p.L1796Lc.5386C>TSubstitution - coding silent
CMTM5ENSG00000166091ENST00000339180p.?c.480+6C>TUnknown
YAF2ENSG00000015153ENST00000442791p.S178Nc.533G>ASubstitution - Missense
RTN3ENSG00000133318ENST00000356000p.K253fs*>3c.751_752delAADeletion - Frameshift
SETD1BENSG00000139718ENST00000267197p.A495Tc.1483G>ASubstitution - Missense
C1orf51ENSG00000159208ENST00000369095p.Q301*c.901C>TSubstitution - Nonsense
HIST2H3DENSG00000183598ENST00000331491p.L110Lc.330G>ASubstitution - coding silent
FLRT1ENSG00000126500ENST00000246841p.A436Vc.1307C>TSubstitution - Missense
MAPK8ENSG00000107643ENST00000374182p.G177*c.529G>TSubstitution - Nonsense
CWF19L2ENSG00000152404ENST00000282251p.E176Ac.527A>CSubstitution - Missense
ENST00000268271p.L17Lc.51G>ASubstitution - coding silent
MYO16ENSG00000041515ENST00000357550p.A67Tc.199G>ASubstitution - Missense
ENSG00000214325ENST00000538623p.N114fs*8c.334_335insAInsertion - Frameshift
ZBTB25ENSG00000089775ENST00000394715p.T82Mc.245C>TSubstitution - Missense
DDHD1ENSG00000100523ENST00000323669p.S604Sc.1812T>CSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.D3048Dc.9144C>TSubstitution - coding silent
ENST00000398240p.L710Mc.2128C>ASubstitution - Missense
PTPRGENSG00000144724ENST00000474889p.Q205fs*24c.612_613insTInsertion - Frameshift
LTKENSG00000062524ENST00000263800p.L844Ic.2530C>ASubstitution - Missense
VPS18ENSG00000104142ENST00000220509p.H390Hc.1170C>TSubstitution - coding silent
TLN2ENSG00000171914ENST00000306829p.D1388Ec.4164C>ASubstitution - Missense
ANKEF1ENSG00000132623ENST00000378392p.N357Sc.1070A>GSubstitution - Missense
FOXK2ENSG00000141568ENST00000335255p.?c.761_763-3del3522Unknown
TSTD2ENSG00000136925ENST00000341170p.R484Qc.1451G>ASubstitution - Missense
RAB34ENSG00000109113ENST00000301043p.S228Sc.684G>ASubstitution - coding silent
GGCXENSG00000115486ENST00000233838p.R687*c.2059C>TSubstitution - Nonsense
KRTAP9-1ENSG00000240542ENST00000398470p.S233Sc.699C>TSubstitution - coding silent
AKAP9ENSG00000127914ENST00000356239p.L2469Rc.7406T>GSubstitution - Missense
TECPR1ENSG00000205356ENST00000379795p.?c.934-6C>AUnknown
CALCRENSG00000004948ENST00000394441p.G353Rc.1057G>ASubstitution - Missense
HOXD3ENSG00000128652ENST00000249440p.H47fs*30c.134delCDeletion - Frameshift
COL20A1ENSG00000101203ENST00000326996p.D294Dc.882C>TSubstitution - coding silent
KCNU1ENSG00000215262ENST00000399881p.T1065Ic.3194C>TSubstitution - Missense
ENST00000233310p.R747Wc.2239C>TSubstitution - Missense
LOXL3ENSG00000115318ENST00000264094p.G275Gc.825C>GSubstitution - coding silent
ZIK1ENSG00000171649ENST00000307468p.N367Ic.1100A>TSubstitution - Missense
COL4A4ENSG00000081052ENST00000396625p.?c.736-9T>CUnknown
NGEFENSG00000066248ENST00000373552p.R167Qc.500G>ASubstitution - Missense
ABCB4ENSG00000005471ENST00000359206p.T1077Tc.3231G>ASubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.S3586Ic.10757G>TSubstitution - Missense
DTX3LENSG00000163840ENST00000296161p.P656Lc.1967C>TSubstitution - Missense
NM_001010888.1p.Y470Cc.1409A>GSubstitution - Missense
CILP2ENSG00000160161ENST00000291495p.R735Hc.2204G>ASubstitution - Missense
SMARCA2ENSG00000080503ENST00000349721p.?c.4200-1G>TUnknown
DSTENSG00000151914ENST00000370765p.E2124delEc.6371_6373delAAGDeletion - In frame
CSF2RBENSG00000100368ENST00000403662p.F462Lc.1384T>CSubstitution - Missense
GPR50ENSG00000102195ENST00000218316p.M312Ic.936G>ASubstitution - Missense
SENP6ENSG00000112701ENST00000370014p.H832fs*7c.2487_2488insAInsertion - Frameshift
RIMS2ENSG00000176406ENST00000406091p.R1075Kc.3224G>ASubstitution - Missense
PSORS1C2ENSG00000204538ENST00000259845p.R96Wc.286C>TSubstitution - Missense
PRPF40AENSG00000196504ENST00000354363p.T130Ic.389C>TSubstitution - Missense
USP46ENSG00000109189ENST00000441222p.R294Hc.881G>ASubstitution - Missense
NM_139056.1p.K1014Rc.3041A>GSubstitution - Missense
TGENSG00000042832ENST00000220616p.A1107Tc.3319G>ASubstitution - Missense
DIP2CENSG00000151240ENST00000381496p.L298Lc.892C>TSubstitution - coding silent
OR4C6ENSG00000181903ENST00000314259p.S215Sc.645C>TSubstitution - coding silent
DOCK10ENSG00000135905ENST00000409592p.T2078Tc.6234C>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.G8405Dc.25214G>ASubstitution - Missense
DOPEY1ENSG00000083097ENST00000237163p.R2244Qc.6731G>ASubstitution - Missense
SLC38A4ENSG00000139209ENST00000266579p.A382Vc.1145C>TSubstitution - Missense
CCNJENSG00000107443ENST00000265992p.R291Hc.872G>ASubstitution - Missense
SMUG1ENSG00000123415ENST00000513838p.C163Yc.488G>ASubstitution - Missense
AGBL2ENSG00000165923ENST00000298861p.N798fs*13c.2388_2389insAInsertion - Frameshift
CHD8ENSG00000100888ENST00000430710p.V99Vc.297A>GSubstitution - coding silent
DUSP5ENSG00000138166ENST00000369583p.T235Mc.704C>TSubstitution - Missense
AMDHD1ENSG00000139344ENST00000266736p.R175Hc.524G>ASubstitution - Missense
FAM45AENSG00000119979ENST00000361432p.N220Nc.660C>TSubstitution - coding silent
OCA2ENSG00000104044ENST00000354638p.V467Ac.1400T>CSubstitution - Missense
SU_CRIKp.F1100fs*37c.3300delTDeletion - Frameshift
SZT2ENSG00000198198ENST00000562955p.?c.2551-1G>AUnknown
CITENSG00000122966ENST00000261833p.A244Vc.731C>TSubstitution - Missense
CUBNENSG00000107611ENST00000377833p.S3105Rc.9315C>ASubstitution - Missense
MRVI1ENSG00000072952ENST00000436272p.P500Pc.1500A>GSubstitution - coding silent
TMPRSS4ENSG00000137648ENST00000437212p.E87Kc.259G>ASubstitution - Missense
XPR1ENSG00000143324ENST00000367590p.T71Ic.212C>TSubstitution - Missense
TAGLNENSG00000149591ENST00000392951p.A101Dc.302C>ASubstitution - Missense
TMEM132DENSG00000151952ENST00000422113p.Q274*c.820C>TSubstitution - Nonsense
GLT1D1ENSG00000151948ENST00000281703p.A38Ac.114C>ASubstitution - coding silent
MEGF11ENSG00000157890ENST00000395625p.?c.537+5G>AUnknown
UNC79ENSG00000133958ENST00000256339p.T1533Ic.4598C>TSubstitution - Missense
C1QTNF9ENSG00000240654ENST00000382071p.I193fs*5c.574delADeletion - Frameshift
TTNENSG00000155657ENST00000342992p.D3094Dc.9282C>TSubstitution - coding silent
NCOA2ENSG00000140396ENST00000452400p.V1392Vc.4176G>CSubstitution - coding silent
PARD3BENSG00000116117ENST00000358768p.R244Wc.730C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.A32257Tc.96769G>ASubstitution - Missense
CCDC150ENSG00000144395ENST00000389175p.A608Vc.1823C>TSubstitution - Missense
NF2ENSG00000186575ENST00000338641p.K228fs*23c.679delADeletion - Frameshift
FAM47CENSG00000198173ENST00000358047p.P635Pc.1905C>TSubstitution - coding silent
CCSER1ENSG00000184305ENST00000509176p.R137Kc.410G>ASubstitution - Missense
DGUOKENSG00000114956ENST00000264093p.Q76*c.226C>TSubstitution - Nonsense
EGR4ENSG00000135625ENST00000545030p.R548Hc.1643G>ASubstitution - Missense
SU_SPEGp.T870fs*11c.2602delCDeletion - Frameshift
DPP10ENSG00000175497ENST00000410059p.G531*c.1591G>TSubstitution - Nonsense
MAGEB2ENSG00000099399ENST00000378988p.T31Ic.92C>TSubstitution - Missense
NPAS1ENSG00000130751ENST00000449844p.V262Ic.784G>ASubstitution - Missense
NPHP3ENSG00000113971ENST00000337331p.R127Wc.379C>TSubstitution - Missense
TGFBIENSG00000120708ENST00000442011p.M175Ic.525G>ASubstitution - Missense
KLHL18ENSG00000114648ENST00000232766p.A65Vc.194C>TSubstitution - Missense
RREB1ENSG00000124782ENST00000379933p.P482Tc.1444C>ASubstitution - Missense
GRAP2ENSG00000100351ENST00000344138p.A278Vc.833C>TSubstitution - Missense
EP300ENSG00000100393ENST00000263253p.N1236fs*2c.3701_3702insAInsertion - Frameshift
KIF3AENSG00000131437ENST00000378735p.S386Tc.1157G>CSubstitution - Missense
DPF1ENSG00000011332ENST00000355526p.T240Tc.720G>ASubstitution - coding silent
RIMS2ENSG00000176406ENST00000507740p.R889Kc.2666G>ASubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.?c.6549-6G>AUnknown
AMPHENSG00000078053ENST00000356264p.Q38Qc.114G>ASubstitution - coding silent
NME8ENSG00000086288ENST00000199447p.C39Fc.116G>TSubstitution - Missense
POLHENSG00000170734ENST00000372236p.F18fs*12c.48delTDeletion - Frameshift
OPCMLENSG00000183715ENST00000331898p.?c.785+4C>TUnknown
SUN3ENSG00000164744ENST00000453071p.K216fs*9c.647delADeletion - Frameshift
KIAA1109ENSG00000138688ENST00000455637p.R3177Rc.9531A>GSubstitution - coding silent
C6orf201ENSG00000185689ENST00000333388p.I69fs*7c.205_206insAInsertion - Frameshift
DENND6AENSG00000174839ENST00000311128p.R438Hc.1313G>ASubstitution - Missense
NPSR1ENSG00000187258ENST00000381539p.V65Ic.193G>ASubstitution - Missense
CBWD1ENSG00000172785ENST00000377447p.?c.431-1G>CUnknown
SU_OBSCN.1p.A2629Vc.7886C>TSubstitution - Missense
USP38ENSG00000170185ENST00000307017p.K823fs*2c.2464delADeletion - Frameshift
ACACBENSG00000076555ENST00000377848p.G406Sc.1216G>ASubstitution - Missense
CDC14AENSG00000079335ENST00000336454p.N177Kc.531T>ASubstitution - Missense
TLL2ENSG00000095587ENST00000357947p.K626Nc.1878G>TSubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.?c.3815-8T>CUnknown
HECTD2ENSG00000165338ENST00000298068p.K206Nc.618G>TSubstitution - Missense
C11orf48ENSG00000162194ENST00000354588p.S65Sc.195C>TSubstitution - coding silent
LRP5ENSG00000162337ENST00000294304p.D666Nc.1996G>ASubstitution - Missense
MTA2ENSG00000149480ENST00000278823p.G164*c.490G>TSubstitution - Nonsense
MS4A4AENSG00000110079ENST00000337908p.L75Lc.225G>CSubstitution - coding silent
WASF3ENSG00000132970ENST00000361042p.Q460Qc.1380G>ASubstitution - coding silent
SLC38A4ENSG00000139209ENST00000266579p.L381Pc.1142T>CSubstitution - Missense
ARHGAP30ENSG00000186517ENST00000368013p.E764Ec.2292A>GSubstitution - coding silent
ZBTB17ENSG00000116809ENST00000448462p.Q109Hc.327G>TSubstitution - Missense
HNF1AENSG00000135100ENST00000257555p.L89Lc.267G>ASubstitution - coding silent
NM_015906p.S720delSc.2158_2160delTCTDeletion - In frame
SETD1BENSG00000139718ENST00000542440p.A1614Tc.4840G>ASubstitution - Missense
AKNAD1ENSG00000162641ENST00000369995p.P570Sc.1708C>TSubstitution - Missense
CUBNENSG00000107611ENST00000377833p.V3478Vc.10434C>ASubstitution - coding silent
PDSS1ENSG00000148459ENST00000376215p.A214Vc.641C>TSubstitution - Missense
ADAM21ENSG00000139985ENST00000267499p.T93Tc.279A>CSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369348p.N156fs*34c.466_467insGAInsertion - Frameshift
PDE4DIPENSG00000178104ENST00000369354p.N19fs*34c.51_52insGAInsertion - Frameshift
NXPE2ENSG00000204361ENST00000389586p.F100Ic.298T>ASubstitution - Missense
ZNF384ENSG00000126746ENST00000396795p.A493Vc.1478C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000399617p.L1889Fc.5665C>TSubstitution - Missense
SHC4ENSG00000185634ENST00000332408p.K619Nc.1857A>CSubstitution - Missense
LRRK1ENSG00000154237ENST00000388948p.P1178Pc.3534C>ASubstitution - coding silent
SHC1ENSG00000160691ENST00000368453p.V253fs*3c.757_758insGGInsertion - Frameshift
ATPIF1ENSG00000130770ENST00000335514p.H73fs*3c.210_211insAInsertion - Frameshift
CELENSG00000170835ENST00000372080p.?c.349+5G>AUnknown
TRIM37ENSG00000108395ENST00000262294p.L696Vc.2086C>GSubstitution - Missense
SEC24AENSG00000113615ENST00000398844p.N778Nc.2334C>TSubstitution - coding silent
USP32ENSG00000170832ENST00000300896p.P371Lc.1112C>TSubstitution - Missense
CAMSAP1ENSG00000130559ENST00000389532p.L313Ic.937T>ASubstitution - Missense
ENST00000230993_v65p.T195Ic.584C>TSubstitution - Missense
FAT2ENSG00000086570ENST00000261800p.V315Vc.945G>ASubstitution - coding silent
GABREENSG00000102287ENST00000370328p.P23Pc.69T>CSubstitution - coding silent
ALDH8A1ENSG00000118514ENST00000265605p.M460fs*1c.1377delGDeletion - Frameshift
RAB36ENSG00000100228ENST00000263116p.V126Vc.378G>TSubstitution - coding silent
EXOSC5ENSG00000077348ENST00000221233p.L48Lc.142C>TSubstitution - coding silent
GPR144ENSG00000180264ENST00000334810p.T674Pc.2020A>CSubstitution - Missense
MCRS1ENSG00000187778ENST00000550165p.Q149Hc.447G>TSubstitution - Missense
CTCFLENSG00000124092ENST00000426658p.S376Sc.1128C>TSubstitution - coding silent
COL20A1ENSG00000101203ENST00000422202p.D301Dc.903C>TSubstitution - coding silent
DNAH6ENSG00000115423ENST00000398278p.S114fs*16c.333delADeletion - Frameshift
DDR1ENSG00000204580ENST00000361741p.P234fs*86c.695delCDeletion - Frameshift
SPEGENSG00000072195ENST00000396688p.T21fs*11c.55delCDeletion - Frameshift
TPOENSG00000115705ENST00000337415p.T561Tc.1683G>ASubstitution - coding silent
GRIN1ENSG00000176884ENST00000315048p.?c.2590-10T>CUnknown
SETXENSG00000107290ENST00000372169p.K2650Nc.7950A>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.G8745Dc.26234G>ASubstitution - Missense
MED23ENSG00000112282ENST00000403834p.A246Vc.737C>TSubstitution - Missense
ZNF415ENSG00000170954ENST00000243643p.C221Cc.663C>TSubstitution - coding silent
RNF169ENSG00000166439ENST00000299563p.S339Lc.1016C>TSubstitution - Missense
HUWE1ENSG00000086758ENST00000342160p.R3044*c.9130C>TSubstitution - Nonsense
THBS3ENSG00000169231ENST00000368378p.G694Gc.2082C>TSubstitution - coding silent
HGFENSG00000019991ENST00000222390p.R514Kc.1541G>ASubstitution - Missense
RCSD1ENSG00000198771ENST00000367854p.G358Gc.1074C>TSubstitution - coding silent
PAX3ENSG00000135903ENST00000392069p.R271Hc.812G>ASubstitution - Missense
PODXLENSG00000128567ENST00000378555p.S162fs*5c.480delGDeletion - Frameshift
DNAH14ENSG00000185842ENST00000445597p.T2291fs*7c.6866delADeletion - Frameshift
YBX3ENSG00000060138ENST00000228251p.E199delEc.594_596delGGADeletion - In frame
DNTTENSG00000107447ENST00000371174p.*510*c.1530G>ASubstitution - coding silent
ALG8ENSG00000159063ENST00000299626p.A45Vc.134C>TSubstitution - Missense
POLEENSG00000177084ENST00000320574p.R847Qc.2540G>ASubstitution - Missense
PAOXENSG00000148832ENST00000357296p.F188delFc.558_560delCTTDeletion - In frame
PLEKHA1ENSG00000107679ENST00000368990p.?c.343-10A>TUnknown
TCF7L2ENSG00000148737ENST00000543371p.H145Yc.433C>TSubstitution - Missense
FBXO42ENSG00000037637ENST00000375592p.H68Hc.204C>TSubstitution - coding silent
AGO1ENSG00000092847ENST00000373204p.G614Cc.1840G>TSubstitution - Missense
RFC3ENSG00000133119ENST00000380071p.V184Vc.552G>ASubstitution - coding silent
RXRGENSG00000143171ENST00000359842p.D297Dc.891C>TSubstitution - coding silent
ERCC6ENSG00000225830ENST00000355832p.D475Yc.1423G>TSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.?c.25-1G>AUnknown
ERI2ENSG00000196678ENST00000357967p.M266Ic.798G>ASubstitution - Missense
HTATIP2ENSG00000109854ENST00000421577p.D86Dc.258T>CSubstitution - coding silent
BBOX1ENSG00000129151ENST00000263182p.A31Vc.92C>TSubstitution - Missense
ENST00000395900p.I22Nc.65T>ASubstitution - Missense
C14orf166BENSG00000100565ENST00000393774p.V386Ic.1156G>ASubstitution - Missense
ZNF259ENSG00000109917ENST00000227322p.N368fs*32c.1103delADeletion - Frameshift
CACNA1CENSG00000151067ENST00000402845p.L1967Fc.5899C>TSubstitution - Missense
MYOGENSG00000122180ENST00000241651p.L136Fc.406C>TSubstitution - Missense
CDKL1ENSG00000100490ENST00000395834p.R354Hc.1061G>ASubstitution - Missense
LRRK1ENSG00000154237ENST00000284395p.P1175Pc.3525C>ASubstitution - coding silent
TMEM255AENSG00000125355ENST00000309720p.R196Qc.587G>ASubstitution - Missense
ENST00000221482p.A1670Tc.5008G>ASubstitution - Missense
EVPLLENSG00000214860ENST00000399134p.A152Ac.456G>ASubstitution - coding silent
PODXLENSG00000128567ENST00000378555p.S162fs*5c.474delTDeletion - Frameshift
LGALS9BENSG00000170298ENST00000324290p.D27Dc.81C>TSubstitution - coding silent
ASNA1ENSG00000198356ENST00000357332p.A328fs*>22c.982_983insGInsertion - Frameshift
CLIC6ENSG00000159212ENST00000349499p.I634Ic.1902T>CSubstitution - coding silent
KRTAP9-9ENSG00000198083ENST00000394008p.C76_S77ins14c.230_231ins42Insertion - In frame
SU_NRBP2p.A276Tc.826G>ASubstitution - Missense
HIST1H1TENSG00000187475ENST00000338379p.T4Ic.11C>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000423507p.R420Cc.1258C>TSubstitution - Missense
CKAP2ENSG00000136108ENST00000258607p.R343*c.1027C>TSubstitution - Nonsense
CR1ENSG00000203710ENST00000400960p.?c.402-7C>TUnknown
BATF3ENSG00000123685ENST00000243440p.?c.91-4C>AUnknown
NFRKBENSG00000170322ENST00000524794p.P848Pc.2544G>ASubstitution - coding silent
TENC1ENSG00000111077ENST00000314276p.?c.3389-7G>AUnknown
SLC2A3ENSG00000059804ENST00000075120p.G300Vc.899G>TSubstitution - Missense
OR6K2ENSG00000196171ENST00000359610p.Y291fs*2c.870_873delCTATDeletion - Frameshift
PKP3ENSG00000184363ENST00000331563p.R673Cc.2017C>TSubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.F1192Fc.3576T>CSubstitution - coding silent
TMPOENSG00000120802ENST00000266732p.V533Vc.1599T>ASubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.E4692Vc.14075A>TSubstitution - Missense
ZBTB17ENSG00000116809ENST00000375743p.Q172Hc.516G>TSubstitution - Missense
GLB1L3ENSG00000166105ENST00000431683p.R101Mc.302G>TSubstitution - Missense
TJP1ENSG00000104067ENST00000346128p.G1415Gc.4245C>TSubstitution - coding silent
PROSER1ENSG00000120685ENST00000352251p.R101Hc.302G>ASubstitution - Missense
MAP7D1ENSG00000116871ENST00000373151p.R720Lc.2159G>TSubstitution - Missense
CITENSG00000122966ENST00000392521p.A244Vc.731C>TSubstitution - Missense
STARD9ENSG00000159433ENST00000290607p.E2767Dc.8301G>TSubstitution - Missense
ECM1ENSG00000143369ENST00000369049p.Q303Hc.909G>TSubstitution - Missense
CITENSG00000122966ENST00000261833p.F1057fs*37c.3171delTDeletion - Frameshift
C12orf43ENSG00000157895ENST00000288757p.S245Sc.735C>TSubstitution - coding silent
TSPAN2ENSG00000134198ENST00000369516p.G58Vc.173G>TSubstitution - Missense
GALNT16ENSG00000100626ENST00000553669p.G319fs*83c.950delGDeletion - Frameshift
ACSM5ENSG00000183549ENST00000331849p.R137_T138insMRc.412_413insTGCGGAInsertion - In frame
ENST00000338282p.A1616Tc.4846G>ASubstitution - Missense
SLC35F2ENSG00000110660ENST00000525815p.F154Lc.460T>CSubstitution - Missense
TEX9ENSG00000151575ENST00000352903p.D84Ac.251A>CSubstitution - Missense
DCST2ENSG00000163354ENST00000368424p.L60Ic.178C>ASubstitution - Missense
RFX7ENSG00000181827ENST00000317318p.P1217Qc.3650C>ASubstitution - Missense
NOC2LENSG00000188976ENST00000327044p.R559Qc.1676G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.I443Nc.1328T>ASubstitution - Missense
ENST00000356127p.K3875Nc.11625A>CSubstitution - Missense
NECAB2ENSG00000103154ENST00000305202p.L285Lc.855G>ASubstitution - coding silent
ENST00000262017p.I417Nc.1250T>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.D3048Dc.9144C>TSubstitution - coding silent
KLK10ENSG00000129451ENST00000391805p.P249Pc.747C>ASubstitution - coding silent
KLK1ENSG00000167748ENST00000301420p.D69Nc.205G>ASubstitution - Missense
EXOC4ENSG00000131558ENST00000253861p.R624Mc.1871G>TSubstitution - Missense
LEPROTL1ENSG00000104660ENST00000523116p.S9Nc.26G>ASubstitution - Missense
ADAM28ENSG00000042980ENST00000265769p.H178Dc.532C>GSubstitution - Missense
C9orf72ENSG00000147894ENST00000380003p.L376Pc.1127T>CSubstitution - Missense
THOC1ENSG00000079134ENST00000261600p.R158Qc.473G>ASubstitution - Missense
ALDH5A1ENSG00000112294ENST00000348925p.R527*c.1579C>TSubstitution - Nonsense
LONP2ENSG00000102910ENST00000285737p.G679Gc.2037C>TSubstitution - coding silent
ABCC12ENSG00000140798ENST00000311303p.Q831Pc.2492A>CSubstitution - Missense
TMEM200CENSG00000206432ENST00000383490p.G108Dc.323G>ASubstitution - Missense
ASH2LENSG00000129691ENST00000343823p.P390Pc.1170C>TSubstitution - coding silent
TTC28ENSG00000100154ENST00000397906p.T1052Ic.3155C>TSubstitution - Missense
IQSEC2ENSG00000124313ENST00000396435p.S1474fs*>16c.4412_4413insCInsertion - Frameshift
FHOD1ENSG00000135723ENST00000258201p.K846delKc.2536_2538delAAGDeletion - In frame
IL1RL1ENSG00000115602ENST00000311734p.Q60Hc.180G>CSubstitution - Missense
SCUBE1ENSG00000159307ENST00000360835p.D253Nc.757G>ASubstitution - Missense
ENST00000373702p.T591Tc.1773C>ASubstitution - coding silent
DDX18ENSG00000088205ENST00000263239p.R357Hc.1070G>ASubstitution - Missense
HIP1ENSG00000127946ENST00000336926p.Q677*c.2029C>TSubstitution - Nonsense
CPT1BENSG00000205560ENST00000395650p.R630Qc.1889G>ASubstitution - Missense
COL21A1ENSG00000124749ENST00000244728p.R32Cc.94C>TSubstitution - Missense
ADSLENSG00000239900ENST00000216194p.C98Cc.294C>TSubstitution - coding silent
SERPINB11ENSG00000206072ENST00000544088p.I253Ic.759A>TSubstitution - coding silent
RNF8ENSG00000112130ENST00000469731p.V444Mc.1330G>ASubstitution - Missense
MDGA1ENSG00000112139ENST00000434837p.V659Vc.1977G>ASubstitution - coding silent
REV3LENSG00000009413ENST00000358835p.R2525Sc.7573C>ASubstitution - Missense
ARID4BENSG00000054267ENST00000264183p.S1280delSc.3834_3836delCTCDeletion - In frame
OR52E4ENSG00000180974ENST00000316987p.P169Sc.505C>TSubstitution - Missense
CSF3RENSG00000119535ENST00000373104p.?c.1864+5G>TUnknown
FMO3ENSG00000007933ENST00000367755p.A390Tc.1168G>ASubstitution - Missense
CTSWENSG00000172543ENST00000307886p.A158Ac.474G>ASubstitution - coding silent
PRRX1ENSG00000116132ENST00000239461p.K90fs*42c.263delADeletion - Frameshift
PRRC2CENSG00000117523ENST00000392078p.G1199Dc.3596G>ASubstitution - Missense
SERINC4ENSG00000184716ENST00000319327p.M258fs*45c.772_773insCTInsertion - Frameshift
PLA2G4EENSG00000188089ENST00000413860p.V603Mc.1807G>ASubstitution - Missense
PARGENSG00000227345ENST00000402038p.W577Cc.1731G>TSubstitution - Missense
CHD2ENSG00000173575ENST00000394196p.R699Qc.2096G>ASubstitution - Missense
FESENSG00000182511ENST00000328850p.T345Tc.1035C>TSubstitution - coding silent
CACNA1HENSG00000196557ENST00000358590p.R705Lc.2114G>TSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.S3752Fc.11255C>TSubstitution - Missense
MYH11ENSG00000133392ENST00000396324p.A1623Tc.4867G>ASubstitution - Missense
PRDM2ENSG00000116731ENST00000235372p.P27Pc.81G>TSubstitution - coding silent
CEP350ENSG00000135837ENST00000367607p.Q1407Rc.4220A>GSubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.L1902Fc.5704C>TSubstitution - Missense
LGALS3ENSG00000131981ENST00000254301p.A39Tc.115G>ASubstitution - Missense
MDGA2ENSG00000139915ENST00000357362p.T552Sc.1654A>TSubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.T1732Ic.5195C>TSubstitution - Missense
ATMINENSG00000166454ENST00000299575p.T658Tc.1974C>TSubstitution - coding silent
SPPL2CENSG00000185294ENST00000329196p.S605Nc.1814G>ASubstitution - Missense
BARD1ENSG00000138376ENST00000260947p.T299Tc.897T>GSubstitution - coding silent
ENST00000293218_v68p.R147Hc.440G>ASubstitution - Missense
MCM8ENSG00000125885ENST00000265187p.G7Gc.21C>TSubstitution - coding silent
FOXK2ENSG00000141568ENST00000335255p.?c.1276_1280-5del1715Unknown
ASNA1ENSG00000198356ENST00000357332p.G211Gc.633G>TSubstitution - coding silent
PBRM1ENSG00000163939ENST00000296302p.G1231*c.3691G>TSubstitution - Nonsense
FAM133BENSG00000234545ENST00000445716p.S108Sc.324T>ASubstitution - coding silent
MROH1ENSG00000179832ENST00000423230p.S4Sc.12C>ASubstitution - coding silent
ENST00000377989p.?c.662-5T>CUnknown
DNMT3BENSG00000088305ENST00000201963p.?c.241-3A>TUnknown
CCSER1ENSG00000184305ENST00000432775p.R137Kc.410G>ASubstitution - Missense
THAP9ENSG00000168152ENST00000302236p.C631Cc.1893C>TSubstitution - coding silent
POMKENSG00000185900ENST00000331373p.T163Tc.489A>CSubstitution - coding silent
DNAH11ENSG00000105877ENST00000328843p.H3073Qc.9219C>GSubstitution - Missense
SCUBE1ENSG00000159307ENST00000290460p.D283Nc.847G>ASubstitution - Missense
DRD3ENSG00000151577ENST00000383673p.P135Pc.405C>ASubstitution - coding silent
ITPR1ENSG00000150995ENST00000302640p.P1757Pc.5271A>GSubstitution - coding silent
PHKA1ENSG00000067177ENST00000373542p.?c.2527-10C>TUnknown
FYNENSG00000010810ENST00000368682p.R478Rc.1434A>TSubstitution - coding silent
PPARGC1BENSG00000155846ENST00000309241p.A577Vc.1730C>TSubstitution - Missense
SLC8A1ENSG00000183023ENST00000403092p.T912Ic.2735C>TSubstitution - Missense
CYFIP2ENSG00000055163ENST00000377576p.E1040Ec.3120G>ASubstitution - coding silent
SENP6ENSG00000112701ENST00000447266p.H832fs*7c.2487_2488insAInsertion - Frameshift
ZKSCAN8ENSG00000198315ENST00000330236p.T541Ic.1622C>TSubstitution - Missense
SUN3ENSG00000164744ENST00000395572p.K292fs*9c.876delADeletion - Frameshift
GTDC1ENSG00000121964ENST00000392869p.L80Fc.238C>TSubstitution - Missense
CDC25BENSG00000101224ENST00000245960p.F256Lc.766T>CSubstitution - Missense
EPHA5ENSG00000145242ENST00000273854p.S673Tc.2017T>ASubstitution - Missense
TWISTNBENSG00000105849ENST00000222567p.G333Rc.997G>CSubstitution - Missense
GRM4ENSG00000124493ENST00000374177p.V789Ic.2365G>ASubstitution - Missense
C6orf25ENSG00000204420ENST00000375806p.S13Tc.37T>ASubstitution - Missense
EHMT2ENSG00000204371ENST00000375537p.?c.865-5C>TUnknown
SCN9AENSG00000169432ENST00000375387p.W1259Cc.3777G>CSubstitution - Missense
PTPRTENSG00000196090ENST00000373184p.Q1179fs*17c.3535delCDeletion - Frameshift
SCN1AENSG00000144285ENST00000423058p.N743Nc.2229C>TSubstitution - coding silent
SHC4ENSG00000185634ENST00000396535p.K376Nc.1128A>CSubstitution - Missense
CELSR1ENSG00000075275ENST00000262738p.?c.7584+10C>AUnknown
CDKL4ENSG00000205111ENST00000378803p.?c.793-1G>TUnknown
CTCFLENSG00000124092ENST00000423479p.S376Sc.1128C>TSubstitution - coding silent
SARDHENSG00000123453ENST00000371867p.L36Fc.106C>TSubstitution - Missense
DGKIENSG00000157680ENST00000288490p.R791Cc.2371C>TSubstitution - Missense
ZNF827ENSG00000151612ENST00000379448p.S837Sc.2511G>ASubstitution - coding silent
CACNA1EENSG00000198216ENST00000357570p.D1382fs*3c.4141delGDeletion - Frameshift
CACNA1EENSG00000198216ENST00000367567p.D1038fs*3c.3109delGDeletion - Frameshift
GLRX2ENSG00000023572ENST00000367439p.S158fs*>7c.472delADeletion - Frameshift
UBE4BENSG00000130939ENST00000377157p.A199fs*52c.594_595insAInsertion - Frameshift
PDE4DIPENSG00000178104ENST00000369351p.N19fs*34c.55_56insGAInsertion - Frameshift
PDE4DIPENSG00000178104ENST00000369351p.N19fs*34c.51_52insGAInsertion - Frameshift
ZDHHC5ENSG00000156599ENST00000287169p.R607fs*8c.1815delCDeletion - Frameshift
TPOENSG00000115705ENST00000337415p.F718fs*1c.2152_2153delTTDeletion - Frameshift
COL20A1ENSG00000101203ENST00000422202p.P1081fs*63c.3238delCDeletion - Frameshift
C20orf26ENSG00000089101ENST00000377306p.I300fs*1c.893delADeletion - Frameshift
ASXL1ENSG00000171456ENST00000306058p.Q423fs*10c.1260_1261insAInsertion - Frameshift
C4orf22ENSG00000197826ENST00000508675p.?c.111+2_111+3insTUnknown
ABCB6ENSG00000115657ENST00000265316p.G318fs*9c.953delGDeletion - Frameshift
SETXENSG00000107290ENST00000372169p.F1748fs*3c.5243delTDeletion - Frameshift
CNTLNENSG00000044459ENST00000262360p.M1308fs*1c.3916delADeletion - Frameshift
ZFHX4ENSG00000091656ENST00000050961p.S91fs*18c.264delTDeletion - Frameshift
ZFHX4ENSG00000091656ENST00000050961p.E3170fs*15c.9502delADeletion - Frameshift
PODXLENSG00000128567ENST00000541194p.S164fs*5c.486delGDeletion - Frameshift
PODXLENSG00000128567ENST00000541194p.S164fs*5c.480delTDeletion - Frameshift
PODXLENSG00000128567ENST00000537928p.S162fs*5c.474delTDeletion - Frameshift
NPHP3ENSG00000113971ENST00000343113p.R127Wc.379C>TSubstitution - Missense
FAM120BENSG00000112584ENST00000537664p.R445Rc.1335G>ASubstitution - coding silent
PDE10AENSG00000112541ENST00000539869p.I377Sc.1130T>GSubstitution - Missense
JARID2ENSG00000008083ENST00000541660p.P898Tc.2692C>ASubstitution - Missense
KIF6ENSG00000164627ENST00000538893p.K234Qc.700A>CSubstitution - Missense
ENST00000377993p.?c.662-5T>CUnknown
KCNQ5ENSG00000185760ENST00000370392p.R416Mc.1247G>TSubstitution - Missense
TRERF1ENSG00000124496ENST00000541110p.M1194Vc.3580A>GSubstitution - Missense
TRERF1ENSG00000124496ENST00000541110p.R1121*c.3361C>TSubstitution - Nonsense
LRRC17ENSG00000128606ENST00000249377p.Q81Rc.242A>GSubstitution - Missense
DGKIENSG00000157680ENST00000424189p.R794Cc.2380C>TSubstitution - Missense
ENST00000328843_v70p.H3073Qc.9219C>GSubstitution - Missense
DGKBENSG00000136267ENST00000258767p.G590Dc.1769G>ASubstitution - Missense
SRCRB4DENSG00000146700ENST00000275560p.P523Pc.1569T>CSubstitution - coding silent
MAGI2ENSG00000187391ENST00000535697p.A220Vc.659C>TSubstitution - Missense
AMPHENSG00000078053ENST00000428293p.Q38Qc.114G>ASubstitution - coding silent
NPSR1ENSG00000187258ENST00000381553p.V65Ic.193G>ASubstitution - Missense
ADAM28ENSG00000042980ENST00000437154p.H178Dc.532C>GSubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.G643Rc.1927G>CSubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.G643Rc.1927G>CSubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.A3434Gc.10301C>GSubstitution - Missense
WDR34ENSG00000119333ENST00000451652p.T131Ic.392C>TSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.P953Pc.2859C>TSubstitution - coding silent
PPAPDC3ENSG00000160539ENST00000372261p.R60Hc.179G>ASubstitution - Missense
CBWD1ENSG00000172785ENST00000314367p.?c.323-1G>CUnknown
FAM166AENSG00000188163ENST00000388932p.S95Yc.284C>ASubstitution - Missense
CAMSAP1ENSG00000130559ENST00000409386p.L324Ic.970T>ASubstitution - Missense
PMPCAENSG00000165688ENST00000444897p.R110Qc.329G>ASubstitution - Missense
FRMD3ENSG00000172159ENST00000376434p.?c.255+9C>TUnknown
SPDYE3ENSG00000214300ENST00000332397p.S418Sc.1254A>GSubstitution - coding silent
UBR5ENSG00000104517ENST00000520539p.E2121fs*28c.6360delADeletion - Frameshift
ENST00000545858p.Y127Cc.380A>GSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.A2858Vc.8573C>TSubstitution - Missense
NM_004667.3p.R1552*c.4654C>TSubstitution - Nonsense
SH2B3ENSG00000111252ENST00000341259p.G451Gc.1353C>TSubstitution - coding silent
SLITRK1ENSG00000178235ENST00000377084p.E545Dc.1635A>CSubstitution - Missense
C1orf159ENSG00000131591ENST00000421241p.R107Hc.320G>ASubstitution - Missense
NRP1ENSG00000099250ENST00000265371p.E374Ac.1121A>CSubstitution - Missense
DNAH14ENSG00000185842ENST00000445597p.A696Tc.2086G>ASubstitution - Missense
CELA3BENSG00000219073ENST00000337107p.A258Vc.773C>TSubstitution - Missense
PHF11ENSG00000136147ENST00000378319p.I286fs*16c.849_850insAInsertion - Frameshift
TENC1ENSG00000111077ENST00000314250p.?c.3359-7G>AUnknown
B4GALNT3ENSG00000139044ENST00000266383p.R708Hc.2123G>ASubstitution - Missense
KNDC1ENSG00000171798ENST00000368572p.R381Hc.1142G>ASubstitution - Missense
PLEKHA1ENSG00000107679ENST00000538022p.?c.343-10A>TUnknown
INPP5FENSG00000198825ENST00000369080p.R191*c.571C>TSubstitution - Nonsense
ARHGAP20ENSG00000137727ENST00000533353p.K885Kc.2655G>ASubstitution - coding silent
LAYNENSG00000204381ENST00000375615p.C150Cc.450C>TSubstitution - coding silent
GUCY1A2ENSG00000152402ENST00000282249p.S676Sc.2028C>TSubstitution - coding silent
OPCMLENSG00000183715ENST00000524381p.?c.764+4C>TUnknown
C2CD2LENSG00000172375ENST00000336702p.T422Nc.1265C>ASubstitution - Missense
ENST00000327733p.S263Fc.788C>TSubstitution - Missense
SNX32ENSG00000172803ENST00000308342p.A54Tc.160G>ASubstitution - Missense
NXF1ENSG00000162231ENST00000531709p.R38Cc.112C>TSubstitution - Missense
MYRFENSG00000124920ENST00000278836p.H323Hc.969C>TSubstitution - coding silent
SHANK2ENSG00000162105ENST00000423696p.L1416Lc.4246C>TSubstitution - coding silent
EP400ENSG00000183495ENST00000333577p.A108Tc.322G>ASubstitution - Missense
EP400ENSG00000183495ENST00000333577p.R868Gc.2602C>GSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.P1343Pc.4029T>CSubstitution - coding silent
IQCDENSG00000166578ENST00000416617p.L194Lc.580C>TSubstitution - coding silent
GLIPR1L1ENSG00000173401ENST00000378695p.?c.521+1G>AUnknown
ITGA7ENSG00000135424ENST00000452168p.L811Lc.2431C>TSubstitution - coding silent
ITGA7ENSG00000135424ENST00000452168p.E387Ec.1161G>ASubstitution - coding silent
ITGA7ENSG00000135424ENST00000257880p.E524Ec.1572G>ASubstitution - coding silent
C1orf159ENSG00000131591ENST00000448924p.R143Hc.428G>ASubstitution - Missense
CDC14AENSG00000079335ENST00000544534p.N177Kc.531T>ASubstitution - Missense
CDC14AENSG00000079335ENST00000455467p.N178Kc.534T>ASubstitution - Missense
ADAMTSL4ENSG00000143382ENST00000369041p.?c.1862-3C>TUnknown
NM_004284.2p.R633Qc.1898G>ASubstitution - Missense
UBAP2LENSG00000143569ENST00000271877p.H1058Rc.3173A>GSubstitution - Missense
PBX1ENSG00000185630ENST00000540236p.C70Cc.210C>TSubstitution - coding silent
CAMSAP2ENSG00000118200ENST00000236925p.S1462Nc.4385G>ASubstitution - Missense
KIF21BENSG00000116852ENST00000422435p.G468Gc.1404C>TSubstitution - coding silent
UBR4ENSG00000127481ENST00000375267p.S4975Nc.14924G>ASubstitution - Missense
RPS6KC1ENSG00000136643ENST00000543354p.E356Ec.1068G>ASubstitution - coding silent
SU_OBSCN.1p.A4526Ac.13578G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.A3944Ac.11832G>ASubstitution - coding silent
USH2AENSG00000042781ENST00000366942p.N964Ic.2891A>TSubstitution - Missense
LDLRAD1ENSG00000203985ENST00000420619p.D110Gc.329A>GSubstitution - Missense
MEGF11ENSG00000157890ENST00000360698p.?c.762+5G>AUnknown
ENST00000220429_v70p.R23Hc.68G>ASubstitution - Missense
XM_496125.1p.V1306Mc.3916G>ASubstitution - Missense
CACNA1HENSG00000196557ENST00000348261p.R705Lc.2114G>TSubstitution - Missense
RECQL5ENSG00000108469ENST00000317905p.K309Nc.927G>TSubstitution - Missense
RNF157ENSG00000141576ENST00000269391p.T669Mc.2006C>TSubstitution - Missense
FAM129CENSG00000167483ENST00000595684p.R200Hc.599G>ASubstitution - Missense
FAM129CENSG00000167483ENST00000300971p.R200Hc.599G>ASubstitution - Missense
PPM1NENSG00000213889ENST00000324688p.L172Lc.516C>ASubstitution - coding silent
CLEC4MENSG00000104938ENST00000394122p.D320Nc.958G>ASubstitution - Missense
TM9SF4ENSG00000101337ENST00000398022p.R482Cc.1444C>TSubstitution - Missense
C20orf26ENSG00000089101ENST00000389656p.A178Vc.533C>TSubstitution - Missense
PSMF1ENSG00000125818ENST00000246015p.D211Nc.631G>ASubstitution - Missense
RTFDC1ENSG00000022277ENST00000357348p.N159Ic.476A>TSubstitution - Missense
LSM14BENSG00000149657ENST00000253001p.Y312Yc.936T>CSubstitution - coding silent
PCK1ENSG00000124253ENST00000535860p.E243Dc.729G>TSubstitution - Missense
CLIC6ENSG00000159212ENST00000360731p.I652Ic.1956T>CSubstitution - coding silent
CACNA1IENSG00000100346ENST00000336649p.P35Pc.105G>ASubstitution - coding silent
CACNA1IENSG00000100346ENST00000400164p.P35Pc.105G>ASubstitution - coding silent
NM_006343p.G440Gc.1320C>TSubstitution - coding silent
GRB14ENSG00000115290ENST00000543549p.R320Kc.959G>ASubstitution - Missense
UGT1A8ENSG00000241635ENST00000360418p.C223Cc.669C>TSubstitution - coding silent
PLB1ENSG00000163803ENST00000329020p.N289Yc.865A>TSubstitution - Missense
GFPT1ENSG00000198380ENST00000357308p.R258Hc.773G>ASubstitution - Missense
IQCJ-SCHIP1ENSG00000250588ENST00000485419p.M450Vc.1348A>GSubstitution - Missense
IQCJ-SCHIP1ENSG00000250588ENST00000337808p.M374Vc.1120A>GSubstitution - Missense
PROM1ENSG00000007062ENST00000543373p.S552Nc.1655G>ASubstitution - Missense
ZNF827ENSG00000151612ENST00000379448p.S837Sc.2511G>ASubstitution - coding silent
ZNF335ENSG00000198026ENST00000322927p.R619Cc.1855C>TSubstitution - Missense
ZNF335ENSG00000198026ENST00000322927p.Q169Hc.507G>TSubstitution - Missense
TPOENSG00000115705ENST00000345913p.F718fs*1c.2152_2153delTTDeletion - Frameshift
TPOENSG00000115705ENST00000345913p.T561Tc.1683G>ASubstitution - coding silent
NEBENSG00000183091ENST00000427231p.V3824fs*11c.11470delGDeletion - Frameshift
NEBENSG00000183091ENST00000397345p.V3824fs*11c.11470delGDeletion - Frameshift
NEBENSG00000183091ENST00000409198p.V3581fs*11c.10741delGDeletion - Frameshift
PRPF40AENSG00000196504ENST00000410080p.T234Ic.701C>TSubstitution - Missense
FMNL2ENSG00000157827ENST00000288670p.P553Pc.1659A>GSubstitution - coding silent
CD302ENSG00000241399ENST00000259053p.D58Nc.172G>ASubstitution - Missense
TANC1ENSG00000115183ENST00000263635p.P937fs*33c.2807delCDeletion - Frameshift
JAKMIP1ENSG00000152969ENST00000409021p.I357Mc.1071C>GSubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.L326Vc.976C>GSubstitution - Missense
WDR60ENSG00000126870ENST00000407559p.L592Lc.1776G>ASubstitution - coding silent
IGLL5ENSG00000254709ENST00000526893p.A145Vc.434C>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.P194Pc.582C>TSubstitution - coding silent
IFIH1ENSG00000115267ENST00000263642p.E503Ac.1508A>CSubstitution - Missense
SLC4A10ENSG00000144290ENST00000375514p.T806Ic.2417C>TSubstitution - Missense
SCN2AENSG00000136531ENST00000375437p.M1128Vc.3382A>GSubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.S3632Gc.10894A>GSubstitution - Missense
SCN7AENSG00000136546ENST00000409855p.A94Vc.281C>TSubstitution - Missense
SCN7AENSG00000136546ENST00000409855p.I715Tc.2144T>CSubstitution - Missense
SCN7AENSG00000136546ENST00000409855p.I715Tc.2144T>CSubstitution - Missense
SCN9AENSG00000169432ENST00000409672p.W1247Cc.3741G>CSubstitution - Missense
SCN9AENSG00000169432ENST00000409672p.I1213Tc.3638T>CSubstitution - Missense
SCN1AENSG00000144285ENST00000303395p.N743Nc.2229C>TSubstitution - coding silent
SCN1AENSG00000144285ENST00000375405p.N732Nc.2196C>TSubstitution - coding silent
LRP2ENSG00000081479ENST00000263816p.V1948Mc.5842G>ASubstitution - Missense
KIAA0196ENSG00000164961ENST00000318410p.M276fs*7c.821_822insAInsertion - Frameshift
ENST00000317826p.L123Vc.367C>GSubstitution - Missense
MORN5ENSG00000185681ENST00000373764p.G33Gc.99G>ASubstitution - coding silent
DAB2IPENSG00000136848ENST00000259371p.A341Vc.1022C>TSubstitution - Missense
DAB2IPENSG00000136848ENST00000309989p.A245Vc.734C>TSubstitution - Missense
ENST00000355497_v68p.K114Ec.340A>GSubstitution - Missense
SPTAN1ENSG00000197694ENST00000372739p.N1839Kc.5517C>ASubstitution - Missense
SPTAN1ENSG00000197694ENST00000372731p.N1834Kc.5502C>ASubstitution - Missense
PRDM12ENSG00000130711ENST00000253008p.D128Nc.382G>ASubstitution - Missense
C9orf50ENSG00000179058ENST00000372478p.?c.599+6C>TUnknown
NTMT1ENSG00000148335ENST00000372480p.V174Mc.520G>ASubstitution - Missense
FAM73BENSG00000148343ENST00000358369p.S137Nc.410G>ASubstitution - Missense
NUP188ENSG00000095319ENST00000372577p.C1235Yc.3704G>ASubstitution - Missense
PPAPDC3ENSG00000160539ENST00000372264p.R60Hc.179G>ASubstitution - Missense
FAM78AENSG00000126882ENST00000372271p.P250Pc.750G>ASubstitution - coding silent
CCDC50ENSG00000152492ENST00000392456p.R158Rc.474G>ASubstitution - coding silent
PROM1ENSG00000007062ENST00000447510p.S561Nc.1682G>ASubstitution - Missense
LSG1ENSG00000041802ENST00000265245p.L63Ic.187C>ASubstitution - Missense
GPM6AENSG00000150625ENST00000393658p.G24fs*7c.71delGDeletion - Frameshift
KCNIP1ENSG00000182132ENST00000411494p.?c.290-6T>GUnknown
ADAMTS16ENSG00000145536ENST00000274181p.K1014Rc.3041A>GSubstitution - Missense
XM_042066p.D1268Yc.3802G>TSubstitution - Missense
KIAA0947ENSG00000164151ENST00000296564p.E597fs*8c.1784delADeletion - Frameshift
ADAMTS6ENSG00000049192ENST00000381055p.N536Yc.1606A>TSubstitution - Missense
CWC27ENSG00000153015ENST00000381070p.A255Sc.763G>TSubstitution - Missense
DAXXENSG00000204209ENST00000266000p.D577Yc.1729G>TSubstitution - Missense
GRM4ENSG00000124493ENST00000374181p.V905Ic.2713G>ASubstitution - Missense
MEP1AENSG00000112818ENST00000230588p.L305Fc.915G>TSubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.L1614Mc.4840C>ASubstitution - Missense
RHAGENSG00000112077ENST00000371175p.P223Sc.667C>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000400164p.R1414Hc.4241G>ASubstitution - Missense
PAQR8ENSG00000170915ENST00000442253p.T58Mc.173C>TSubstitution - Missense
PAQR8ENSG00000170915ENST00000442253p.A184Ac.552C>ASubstitution - coding silent
COX20ENSG00000203667ENST00000366528p.R101Ic.302G>TSubstitution - Missense
FAM78AENSG00000126882ENST00000464831p.P219Pc.657G>ASubstitution - coding silent
ENST00000368577p.P83Pc.249C>TSubstitution - coding silent
DDX31ENSG00000125485ENST00000372159p.M178fs*10c.526_527insAInsertion - Frameshift
DDX31ENSG00000125485ENST00000310532p.M178fs*10c.526_527insAInsertion - Frameshift
SARDHENSG00000123453ENST00000298628p.L125Fc.373C>TSubstitution - Missense
ADAMTS13ENSG00000160323ENST00000371929p.C1088Rc.3262T>CSubstitution - Missense
RXRAENSG00000186350ENST00000481739p.P50Sc.148C>TSubstitution - Missense
NOTCH1ENSG00000148400ENST00000277541p.A1851Ac.5553T>CSubstitution - coding silent
NOTCH1ENSG00000148400ENST00000277541p.A1851Ac.5553T>CSubstitution - coding silent
PMPCAENSG00000165688ENST00000371717p.R402Qc.1205G>ASubstitution - Missense
MAMDC4ENSG00000177943ENST00000317446p.L624fs*109c.1865_1866insCInsertion - Frameshift
MAMDC4ENSG00000177943ENST00000317446p.?c.328+6G>AUnknown
NTRK2ENSG00000148053ENST00000376214p.L584Mc.1750T>ASubstitution - Missense
NTRK2ENSG00000148053ENST00000376214p.L584Mc.1750T>ASubstitution - Missense
AGTPBP1ENSG00000135049ENST00000376083p.V326Ac.977T>CSubstitution - Missense
AGTPBP1ENSG00000135049ENST00000357081p.V366Ac.1097T>CSubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.P197Pc.591C>ASubstitution - coding silent
CYP2A7ENSG00000198077ENST00000301146p.A237Tc.709G>ASubstitution - Missense
NPSR1ENSG00000187258ENST00000359791p.V65Ic.193G>ASubstitution - Missense
NPSR1ENSG00000187258ENST00000360581p.V65Ic.193G>ASubstitution - Missense
VPS41ENSG00000006715ENST00000310301p.P351Pc.1053G>ASubstitution - coding silent
SLITRK2ENSG00000185985ENST00000447897p.I234Ic.702A>TSubstitution - coding silent
ZNF275ENSG00000063587ENST00000440091p.V171fs*12c.506delGDeletion - Frameshift
XM_372267.3p.V88fs*12c.257delGDeletion - Frameshift
MAGEA6ENSG00000197172ENST00000329342p.R234Sc.702G>TSubstitution - Missense
NM_004224.1p.M312Ic.936G>ASubstitution - Missense
NM_005334.1p.P888Lc.2663C>TSubstitution - Missense
PDZD4ENSG00000067840ENST00000164640p.A169Tc.505G>ASubstitution - Missense
SLC4A9ENSG00000113073ENST00000230993p.T195Ic.584C>TSubstitution - Missense
SLC4A9ENSG00000113073ENST00000506757p.T171Ic.512C>TSubstitution - Missense
PCDHA8ENSG00000204962ENST00000378123p.S672Sc.2016C>TSubstitution - coding silent
PCDHB10ENSG00000120324ENST00000239446p.A275Tc.823G>ASubstitution - Missense
ITKENSG00000113263ENST00000422843p.E109*c.325G>TSubstitution - Nonsense
KIF4BENSG00000226650ENST00000435029p.R328Hc.983G>ASubstitution - Missense
ATP10BENSG00000118322ENST00000327245p.F229Fc.687C>TSubstitution - coding silent
CYFIP2ENSG00000055163ENST00000318218p.E1065Ec.3195G>ASubstitution - coding silent
PGBD1ENSG00000137338ENST00000259883p.S699Fc.2096C>TSubstitution - Missense
VARS2ENSG00000137411ENST00000321897p.R272Qc.815G>ASubstitution - Missense
THSD7AENSG00000005108ENST00000423059p.R661*c.1981C>TSubstitution - Nonsense
IFRD1ENSG00000006652ENST00000005558p.T376Tc.1128C>ASubstitution - coding silent
TMEM168ENSG00000146802ENST00000312814p.W639Cc.1917G>TSubstitution - Missense
LRRC61ENSG00000127399ENST00000323078p.T194Tc.582C>TSubstitution - coding silent
EZH2ENSG00000106462ENST00000320356p.D189_G190insDc.544_545insATGInsertion - In frame
DGKBENSG00000136267ENST00000403951p.G590Dc.1769G>ASubstitution - Missense
SLC4A2ENSG00000164889ENST00000485713p.G124Ec.371G>ASubstitution - Missense
OGDHENSG00000105953ENST00000543843p.K338Nc.1014G>TSubstitution - Missense
PKD1L1ENSG00000158683ENST00000289672p.R2753Sc.8259A>TSubstitution - Missense
CHCHD2ENSG00000106153ENST00000395422p.A36Ac.108A>CSubstitution - coding silent
ZNF479ENSG00000185177ENST00000331162p.T262Tc.786T>ASubstitution - coding silent
COBLENSG00000106078ENST00000265136p.E1065*c.3193G>TSubstitution - Nonsense
GJC3ENSG00000176402ENST00000312891p.V20fs*80c.57delCDeletion - Frameshift
ENST00000402998p.R1142Kc.3425G>ASubstitution - Missense
ENST00000309900p.N446Sc.1337A>GSubstitution - Missense
ENST00000316490p.N2840Sc.8519A>GSubstitution - Missense
ENST00000316490_v65p.R3480Rc.10440G>ASubstitution - coding silent
CHP2ENSG00000166869ENST00000300113p.Q53Qc.159G>ASubstitution - coding silent
DCAF15ENSG00000132017ENST00000254337p.?c.613+5delgUnknown
LPHN1ENSG00000072071ENST00000340736p.N902Sc.2705A>GSubstitution - Missense
ENST00000319396p.T2067Tc.6201G>ASubstitution - coding silent
CPAMD8ENSG00000160111ENST00000291440p.A1281Ac.3843T>ASubstitution - coding silent
PHLDB3ENSG00000176531ENST00000292140p.G62Gc.186C>TSubstitution - coding silent
CHD6ENSG00000124177ENST00000373222p.A104Vc.311C>TSubstitution - Missense
LPIN3ENSG00000132793ENST00000373257p.G368Gc.1104C>TSubstitution - coding silent
NM_021874.2p.F277Lc.829T>CSubstitution - Missense
SLC32A1ENSG00000101438ENST00000217420p.A195Tc.583G>ASubstitution - Missense
NM_133170.2p.Q1191fs*17c.3571delCDeletion - Frameshift
NFATC1ENSG00000131196ENST00000329101p.L848Lc.2544G>TSubstitution - coding silent
APOL5ENSG00000128313ENST00000249044p.K110Kc.330G>ASubstitution - coding silent
DNMT1ENSG00000130816ENST00000340748p.P1392Hc.4175C>ASubstitution - Missense
MGAT3ENSG00000128268ENST00000341184p.D466Dc.1398C>TSubstitution - coding silent
GRIK2ENSG00000164418ENST00000421544p.G237Gc.711C>TSubstitution - coding silent
GRIK2ENSG00000164418ENST00000369138p.G237Gc.711C>TSubstitution - coding silent
WASF1ENSG00000112290ENST00000392586p.P429Lc.1286C>TSubstitution - Missense
SESN1ENSG00000080546ENST00000436639p.H127Hc.381T>CSubstitution - coding silent
COL21A1ENSG00000124749ENST00000244728p.R32Cc.94C>TSubstitution - Missense
BMP5ENSG00000112175ENST00000370830p.A352Tc.1054G>ASubstitution - Missense
BMP5ENSG00000112175ENST00000370830p.L82Lc.244C>TSubstitution - coding silent
PHF3ENSG00000118482ENST00000262043p.P12Hc.35C>ASubstitution - Missense
DSTENSG00000151914ENST00000370765p.E2124delEc.6371_6373delAAGDeletion - In frame
DSTENSG00000151914ENST00000370769p.P1977Sc.5929C>TSubstitution - Missense
DSTENSG00000151914ENST00000370769p.L1499fs*8c.4496delTDeletion - Frameshift
KHDC1ENSG00000135314ENST00000257765p.V49Vc.147G>ASubstitution - coding silent
ENST00000370385p.V49Vc.147G>ASubstitution - coding silent
KCNQ5ENSG00000185760ENST00000370398p.S416Ic.1247G>TSubstitution - Missense
ANKS6ENSG00000165138ENST00000353234p.S754Sc.2262C>TSubstitution - coding silent
ZHX2ENSG00000178764ENST00000314393p.G171Gc.513A>GSubstitution - coding silent
TBC1D31ENSG00000156787ENST00000287380p.T143Tc.429A>CSubstitution - coding silent
ALDOBENSG00000136872ENST00000374855p.N26Sc.77A>GSubstitution - Missense
C9orf84ENSG00000165181ENST00000394779p.I34Sc.101T>GSubstitution - Missense
MED23ENSG00000112282ENST00000354577p.A246Vc.737C>TSubstitution - Missense
SENP6ENSG00000112701ENST00000447266p.H832fs*7c.2487_2488insAInsertion - Frameshift
AHI1ENSG00000135541ENST00000327035p.T856Sc.2567C>GSubstitution - Missense
AHI1ENSG00000135541ENST00000367800p.T856Sc.2567C>GSubstitution - Missense
AHI1ENSG00000135541ENST00000327035p.M827Vc.2479A>GSubstitution - Missense
DOPEY1ENSG00000083097ENST00000349129p.R2360Qc.7079G>ASubstitution - Missense
MANEAENSG00000172469ENST00000358812p.P97Pc.291A>GSubstitution - coding silent
GABRR1ENSG00000146276ENST00000454853p.Y229Sc.686A>CSubstitution - Missense
OR1D5ENSG00000262628ENST00000575751p.P210Rc.629C>GSubstitution - Missense
CRLF3ENSG00000176390ENST00000324238p.Y343fs*1c.1028_1029delATDeletion - Frameshift
TMEM132EENSG00000181291ENST00000321639p.R725Rc.2175G>ASubstitution - coding silent
CDK5R1ENSG00000176749ENST00000313401p.V144Ic.430G>ASubstitution - Missense
GPATCH11ENSG00000152133ENST00000281932p.I28fs*8c.74_75insAInsertion - Frameshift
SU_CDKL4p.?c.793-1G>TUnknown
QPCTENSG00000115828ENST00000338415p.R152Ic.455G>TSubstitution - Missense
PRKCEENSG00000171132ENST00000306156p.E583Qc.1747G>CSubstitution - Missense
FAM110CENSG00000184731ENST00000327669p.V251Ac.752T>CSubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.E222Kc.664G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000406316p.E222Kc.664G>ASubstitution - Missense
STAT5AENSG00000126561ENST00000345506p.A517Tc.1549G>ASubstitution - Missense
ENST00000225973p.T129Ic.386C>TSubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.C364Yc.1091G>ASubstitution - Missense
G6PC3ENSG00000141349ENST00000269097p.L297fs*27c.885delCDeletion - Frameshift
ASB16ENSG00000161664ENST00000293414p.L105Lc.313C>TSubstitution - coding silent
HEXIM2ENSG00000168517ENST00000307275p.S29Ic.86G>TSubstitution - Missense
DERL2ENSG00000072849ENST00000158771p.R140Sc.418C>ASubstitution - Missense
PCTPENSG00000141179ENST00000268896p.T214Tc.642C>ASubstitution - coding silent
WFIKKN2ENSG00000173714ENST00000311378p.W55Rc.163T>CSubstitution - Missense
VMP1ENSG00000062716ENST00000262291p.M387Lc.1159A>CSubstitution - Missense
C17orf67ENSG00000214226ENST00000397862p.P104Pc.312C>ASubstitution - coding silent
ENST00000338790p.K34Rc.101A>GSubstitution - Missense
TMEM147ENSG00000105677ENST00000222284p.?c.429+6C>TUnknown
ENST00000437720p.T311Tc.933G>ASubstitution - coding silent
MECOMENSG00000085276ENST00000264674p.R213Qc.638G>ASubstitution - Missense
SIENSG00000090402ENST00000264382p.V71Lc.211G>CSubstitution - Missense
DIAPH1ENSG00000131504ENST00000398557p.P693delPc.2073_2075delACCDeletion - In frame
RELL2ENSG00000164620ENST00000297164p.E63fs*1c.184_184+1insCUnknown
ARAP3ENSG00000120318ENST00000239440p.?c.3337-10C>AUnknown
SETXENSG00000107290ENST00000224140p.K2621Nc.7863A>TSubstitution - Missense
C9orf96ENSG00000198870ENST00000371957p.V373Vc.1119C>TSubstitution - coding silent
SU_SgK071p.V417Vc.1251C>TSubstitution - coding silent
DOCK10ENSG00000135905ENST00000258390p.T2082Tc.6246C>ASubstitution - coding silent
GPR55ENSG00000135898ENST00000392039p.Q220Ec.658C>GSubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.L2176Fc.6526C>TSubstitution - Missense
AGAP1ENSG00000157985ENST00000304032p.E551Gc.1652A>GSubstitution - Missense
USP40ENSG00000085982ENST00000450966p.S1014Sc.3042T>CSubstitution - coding silent
USP40ENSG00000085982ENST00000450966p.S1014Sc.3042T>CSubstitution - coding silent
ASPRV1ENSG00000244617ENST00000320256p.P41Sc.121C>TSubstitution - Missense
GFPT1ENSG00000198380ENST00000361060p.R240Hc.719G>ASubstitution - Missense
CEP68ENSG00000011523ENST00000377990p.C738Yc.2213G>ASubstitution - Missense
PPARGENSG00000132170ENST00000287820p.S14Sc.42C>TSubstitution - coding silent
ASPRV1ENSG00000244617ENST00000320256p.L327Fc.979C>TSubstitution - Missense
ENST00000358511_v70p.T1202Tc.3606T>CSubstitution - coding silent
IFT122ENSG00000163913ENST00000296266p.?c.970-7T>CUnknown
NM_181334.1p.T328Tc.984C>ASubstitution - coding silent
EFCAB6ENSG00000186976ENST00000262726p.?c.1127_1142+7>22Unknown
EFCAB6ENSG00000186976ENST00000262726p.E74*c.220G>TSubstitution - Nonsense
TUBGCP6ENSG00000128159ENST00000248846p.S1629delSc.4886_4888delCCTDeletion - In frame
SBF1ENSG00000100241ENST00000380817p.R613Hc.1838G>ASubstitution - Missense
SBF1ENSG00000100241ENST00000390679p.R613Hc.1838G>ASubstitution - Missense
ITPR1ENSG00000150995ENST00000357086p.P1724Pc.5172A>GSubstitution - coding silent
NBEAL2ENSG00000160796ENST00000292309p.?c.5734-1G>TUnknown
PAPD7ENSG00000112941ENST00000230859p.?c.1269+4C>TUnknown
KIF6ENSG00000164627ENST00000287152p.K234Qc.700A>CSubstitution - Missense
NM_001371.1p.I4479Fc.13435A>TSubstitution - Missense
TRERF1ENSG00000124496ENST00000372922p.M1174Vc.3520A>GSubstitution - Missense
TRERF1ENSG00000124496ENST00000372922p.R1101*c.3301C>TSubstitution - Nonsense
KIF6ENSG00000164627ENST00000287152p.K234Qc.700A>CSubstitution - Missense
PLOD3ENSG00000106397ENST00000223127p.Q293fs*65c.876delGDeletion - Frameshift
LRRC17ENSG00000128606ENST00000339431p.Q81Rc.242A>GSubstitution - Missense
CALN1ENSG00000183166ENST00000395275p.T160Pc.478A>CSubstitution - Missense
CALN1ENSG00000183166ENST00000329008p.T118Pc.352A>CSubstitution - Missense
AUTS2ENSG00000158321ENST00000342771p.A878Sc.2632G>TSubstitution - Missense
CLIP2ENSG00000106665ENST00000223398p.V326Mc.976G>ASubstitution - Missense
CLIP2ENSG00000106665ENST00000361545p.V326Mc.976G>ASubstitution - Missense
FAM166AENSG00000188163ENST00000344774p.S95Yc.284C>ASubstitution - Missense
C9orf173ENSG00000197768ENST00000388931p.T326delTc.974_976delCCADeletion - In frame
NELFBENSG00000188986ENST00000343053p.P124Lc.371C>TSubstitution - Missense
SMARCA2ENSG00000080503ENST00000349721p.?c.4200-1G>TUnknown
PIK3R2ENSG00000105647ENST00000222254p.A298Ac.894G>ASubstitution - coding silent
NCANENSG00000130287ENST00000252575p.S115Sc.345C>TSubstitution - coding silent
NCANENSG00000130287ENST00000252575p.S115Sc.345C>TSubstitution - coding silent
ATP13A1ENSG00000105726ENST00000357324p.Y181Yc.543C>TSubstitution - coding silent
ENST00000396734p.L250Lc.750C>ASubstitution - coding silent
TICAM1ENSG00000127666ENST00000248244p.L676Lc.2028G>ASubstitution - coding silent
SH2B1ENSG00000178188ENST00000337120p.A455Tc.1363G>ASubstitution - Missense
SULT1A2ENSG00000197165ENST00000395630p.P87Pc.261A>TSubstitution - coding silent
TBX6ENSG00000149922ENST00000395224p.M236fs*44c.697_698insGInsertion - Frameshift
LCTENSG00000115850ENST00000264162p.L13Lc.39A>GSubstitution - coding silent
NCKAP5ENSG00000176771ENST00000409261p.N1566Sc.4697A>GSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.R531Hc.1592G>ASubstitution - Missense
SLC6A1ENSG00000157103ENST00000287766p.Y152*c.456C>ASubstitution - Nonsense
KIAA1407ENSG00000163617ENST00000295878p.?c.416-10T>CUnknown
WDR52ENSG00000206530ENST00000393845p.I395Mc.1185A>GSubstitution - Missense
ARHGAP31ENSG00000031081ENST00000264245p.P541Lc.1622C>TSubstitution - Missense
NM_006596.3p.G2043Dc.6128G>ASubstitution - Missense
SLC25A36ENSG00000114120ENST00000324194p.R153Rc.459C>TSubstitution - coding silent
CEP70ENSG00000114107ENST00000264982p.?c.780+1G>AUnknown
TBC1D9ENSG00000109436ENST00000442267p.L545Lc.1633C>TSubstitution - coding silent
TBC1D9ENSG00000109436ENST00000442267p.L545Lc.1633C>TSubstitution - coding silent
ARFIP1ENSG00000164144ENST00000451320p.A336Tc.1006G>ASubstitution - Missense
SORBS2ENSG00000154556ENST00000284776p.E1044fs*>57c.3130delGDeletion - Frameshift
SORBS2ENSG00000154556ENST00000437304p.E768fs*>57c.2302delGDeletion - Frameshift
BST1ENSG00000109743ENST00000265016p.R264Qc.791G>ASubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.L3460Lc.10380G>ASubstitution - coding silent
RANBP2ENSG00000153201ENST00000283195p.D2867Yc.8599G>TSubstitution - Missense
RANBP2ENSG00000153201ENST00000283195p.V519Ac.1556T>CSubstitution - Missense
TRIM71ENSG00000206557ENST00000383763p.S362Sc.1086G>TSubstitution - coding silent
ADH5ENSG00000197894ENST00000296412p.Y149Yc.447C>TSubstitution - coding silent
ST8SIA4ENSG00000113532ENST00000231461p.E205Ec.615G>ASubstitution - coding silent
KCNN2ENSG00000080709ENST00000512097p.V406Mc.1216G>ASubstitution - Missense
GOT2ENSG00000125166ENST00000245206p.Q390Hc.1170G>TSubstitution - Missense
ZNF319ENSG00000166188ENST00000299237p.D490Dc.1470C>TSubstitution - coding silent
ENSG00000172901ENST00000357872p.N740Nc.2220C>TSubstitution - coding silent
CDH16ENSG00000166589ENST00000299752p.V829Dc.2486T>ASubstitution - Missense
RLTPRENSG00000159753ENST00000334583p.F1209Ic.3625T>ASubstitution - Missense
RLTPRENSG00000159753ENST00000334583p.F1249Ic.3745T>ASubstitution - Missense
PARD6AENSG00000102981ENST00000219255p.R167Hc.500G>ASubstitution - Missense
CLEC4FENSG00000152672ENST00000272367p.Q136Hc.408G>TSubstitution - Missense
CDH1ENSG00000039068ENST00000261769p.?c.164-4G>AUnknown
FBXO41ENSG00000163013ENST00000295133p.G817Vc.2450G>TSubstitution - Missense
XM_377742.2p.G380Vc.1139G>TSubstitution - Missense
ENST00000258092p.R445Hc.1334G>ASubstitution - Missense
TTC31ENSG00000115282ENST00000233623p.Q387Qc.1161G>ASubstitution - coding silent
TET3ENSG00000187605ENST00000409262p.R1586Wc.4756C>TSubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.D3760Ec.11280C>ASubstitution - Missense
SEMA4FENSG00000135622ENST00000357877p.P563Sc.1687C>TSubstitution - Missense
ANKUB1ENSG00000206199ENST00000446160p.G134Gc.402C>TSubstitution - coding silent
GYG1ENSG00000163754ENST00000345003p.T53Ic.158C>TSubstitution - Missense
MMEENSG00000196549ENST00000360490p.A47Tc.139G>ASubstitution - Missense
IGSF10ENSG00000152580ENST00000282466p.L1902Sc.5705T>CSubstitution - Missense
KIAA1109ENSG00000138688ENST00000264501p.P3980Tc.11938C>ASubstitution - Missense
KIAA1109ENSG00000138688ENST00000264501p.S4181Sc.12543A>GSubstitution - coding silent
EXOSC9ENSG00000123737ENST00000379663p.Q200Kc.598C>ASubstitution - Missense
ENST00000356731_v68p.R29Mc.86G>TSubstitution - Missense
LARP1BENSG00000138709ENST00000427266p.P455Qc.1364C>ASubstitution - Missense
FLT4ENSG00000037280ENST00000261937p.F549Fc.1647C>TSubstitution - coding silent
FLT4ENSG00000037280ENST00000393347p.F549Fc.1647C>TSubstitution - coding silent
GFPT2ENSG00000131459ENST00000253778p.R512Kc.1535G>ASubstitution - Missense
MGAT4BENSG00000161013ENST00000337755p.S193Lc.578C>TSubstitution - Missense
ZFRENSG00000056097ENST00000265069p.T733Ac.2197A>GSubstitution - Missense
ZFRENSG00000056097ENST00000265069p.D543Nc.1627G>ASubstitution - Missense
NM_033267.2p.T92Tc.276C>TSubstitution - coding silent
PRDM9ENSG00000164256ENST00000296682p.T545Ic.1634C>TSubstitution - Missense
FUCA2ENSG00000001036ENST00000451668p.N104Tc.311A>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.G8793Dc.26378G>ASubstitution - Missense
JARID2ENSG00000008083ENST00000341776p.P936Tc.2806C>ASubstitution - Missense
FBXO5ENSG00000112029ENST00000229758p.R217Qc.650G>ASubstitution - Missense
SLC22A2ENSG00000112499ENST00000366953p.E70Kc.208G>ASubstitution - Missense
FNDC1ENSG00000164694ENST00000297267p.A1011Tc.3031G>ASubstitution - Missense
NPVFENSG00000105954ENST00000222674p.R123Cc.367C>TSubstitution - Missense
MAGI2ENSG00000187391ENST00000354212p.D464Ec.1392T>ASubstitution - Missense
XM_499173.1p.D37Dc.111C>TSubstitution - coding silent
MAGEB2ENSG00000099399ENST00000378988p.T31Ic.92C>TSubstitution - Missense
ARSHENSG00000205667ENST00000381130p.D484Nc.1450G>ASubstitution - Missense
ENST00000381114p.L874Pc.2621T>CSubstitution - Missense
ENST00000381114p.L874Pc.2621T>CSubstitution - Missense
DMDENSG00000198947ENST00000378677p.L2347Lc.7039T>CSubstitution - coding silent
ROCK2ENSG00000134318ENST00000315872p.E514Kc.1540G>ASubstitution - Missense
CHCHD5ENSG00000125611ENST00000324913p.R84Hc.251G>ASubstitution - Missense
EPB41L5ENSG00000115109ENST00000263713p.R12Lc.35G>TSubstitution - Missense
EPB41L5ENSG00000115109ENST00000443124p.R12Lc.35G>TSubstitution - Missense
C2orf76ENSG00000186132ENST00000334816p.R19Cc.55C>TSubstitution - Missense
MYO7BENSG00000169994ENST00000428314p.T1777Mc.5330C>TSubstitution - Missense
ENST00000272666p.A1263Tc.3787G>ASubstitution - Missense
IWS1ENSG00000163166ENST00000295321p.S802fs*12c.2397_2398insAInsertion - Frameshift
CLASP1ENSG00000074054ENST00000263710p.R768Qc.2303G>ASubstitution - Missense
ASIC4ENSG00000072182ENST00000358078p.?c.1456+7G>AUnknown
DNAJB2ENSG00000135924ENST00000336576p.R24Rc.72G>ASubstitution - coding silent
TBC1D23ENSG00000036054ENST00000344949p.A382Tc.1144G>ASubstitution - Missense
ENSG00000273045ENST00000302513p.V124Mc.370G>ASubstitution - Missense
PRSS53ENSG00000151006ENST00000280606p.D253Dc.759C>TSubstitution - coding silent
CORO7ENSG00000262246ENST00000251166p.E921Gc.2762A>GSubstitution - Missense
ADCY9ENSG00000162104ENST00000294016p.E698delEc.2092_2094delGAGDeletion - In frame
IL17CENSG00000124391ENST00000244241p.G26Vc.77G>TSubstitution - Missense
IL17CENSG00000124391ENST00000244241p.G167Gc.501C>TSubstitution - coding silent
MYH3ENSG00000109063ENST00000226209p.V825Ic.2473G>ASubstitution - Missense
ZNF577ENSG00000161551ENST00000301399p.Q405*c.1213C>TSubstitution - Nonsense
SHISA6ENSG00000188803ENST00000441885p.T261Tc.783G>ASubstitution - coding silent
SHISA6ENSG00000188803ENST00000432116p.T261Tc.783G>ASubstitution - coding silent
ZNF665ENSG00000197497ENST00000396424p.K293Rc.878A>GSubstitution - Missense
ZNF665ENSG00000197497ENST00000396424p.K228Rc.683A>GSubstitution - Missense
RPS21ENSG00000171858ENST00000370592p.Y12Yc.36C>TSubstitution - coding silent
PRPF31ENSG00000105618ENST00000321030p.P285Sc.853C>TSubstitution - Missense
COL20A1ENSG00000101203ENST00000326996p.P1074fs*95c.3217delCDeletion - Frameshift
COL20A1ENSG00000101203ENST00000358894p.P1074fs*63c.3217delCDeletion - Frameshift
ARFGAP1ENSG00000101199ENST00000353546p.T362Tc.1086C>TSubstitution - coding silent
COL20A1ENSG00000101203ENST00000358894p.D294Dc.882C>TSubstitution - coding silent
COL9A3ENSG00000092758ENST00000343916p.A542Ac.1626G>ASubstitution - coding silent
DIDO1ENSG00000101191ENST00000395343p.R2125Qc.6374G>ASubstitution - Missense
ENST00000358393p.R47Qc.140G>ASubstitution - Missense
GMEB2ENSG00000101216ENST00000370077p.V31fs*1c.91delGDeletion - Frameshift
RFPL1ENSG00000128250ENST00000354373p.T269Ic.806C>TSubstitution - Missense
ZMAT5ENSG00000100319ENST00000344318p.L25Rc.74T>GSubstitution - Missense
ZMAT5ENSG00000100319ENST00000344318p.L25Rc.74T>GSubstitution - Missense
SYN3ENSG00000185666ENST00000358763p.H377Rc.1130A>GSubstitution - Missense
FAM179AENSG00000189350ENST00000379558p.P260Lc.779C>TSubstitution - Missense
PLB1ENSG00000163803ENST00000327757p.N601Yc.1801A>TSubstitution - Missense
PLB1ENSG00000163803ENST00000422425p.N590Yc.1768A>TSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.C355Fc.1064G>TSubstitution - Missense
ENST00000322472p.T197Mc.590C>TSubstitution - Missense
NM_206943.1p.P1581Hc.4742C>ASubstitution - Missense
ENST00000405167p.T3023Nc.9068C>ASubstitution - Missense
TNK2ENSG00000061938ENST00000381916p.R884fs*27c.2650delCDeletion - Frameshift
EPHA6ENSG00000080224ENST00000389672p.G108fs*26c.321_322insTInsertion - Frameshift
ENST00000338994p.G14fs*26c.39_40insTInsertion - Frameshift
CPOXENSG00000080819ENST00000264193p.H295Rc.884A>GSubstitution - Missense
C4orf22ENSG00000197826ENST00000358105p.?c.111+2_111+3insTUnknown
CCSER1ENSG00000184305ENST00000509176p.R137Kc.410G>ASubstitution - Missense
HERC6ENSG00000138642ENST00000264346p.D813Vc.2438A>TSubstitution - Missense
DDHD2ENSG00000085788ENST00000397166p.R112*c.334C>TSubstitution - Nonsense
WHSC1L1ENSG00000147548ENST00000317025p.V779Ic.2335G>ASubstitution - Missense
CHRNA6ENSG00000147434ENST00000276410p.Y235Cc.704A>GSubstitution - Missense
VDAC3ENSG00000078668ENST00000022615p.L164Pc.491T>CSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.P635Pc.1905C>TSubstitution - coding silent
MED14ENSG00000180182ENST00000324817p.H374Hc.1122C>TSubstitution - coding silent
UBA1ENSG00000130985ENST00000377351p.L976Lc.2928C>TSubstitution - coding silent
UBA1ENSG00000130985ENST00000377269p.L424Lc.1272C>TSubstitution - coding silent
XM_497119.1p.?c.11146+10A>GUnknown
XM_291345.2p.V1317fs*16c.3940_3941insCInsertion - Frameshift
SMC1AENSG00000072501ENST00000322213p.L1017Fc.3049C>TSubstitution - Missense
NLRP4ENSG00000160505ENST00000301295p.S678Sc.2034C>ASubstitution - coding silent
NLRP4ENSG00000160505ENST00000587891p.S603Sc.1809C>ASubstitution - coding silent
ZNF776ENSG00000152443ENST00000317178p.S176Nc.527G>ASubstitution - Missense
ZNF530ENSG00000183647ENST00000332854p.H261Hc.783C>TSubstitution - coding silent
ABCA10ENSG00000154263ENST00000269081p.F229Fc.687C>TSubstitution - coding silent
EIF5AENSG00000132507ENST00000336452p.T166Mc.497C>TSubstitution - Missense
EIF5AENSG00000132507ENST00000336458p.T136Mc.407C>TSubstitution - Missense
NLGN2ENSG00000169992ENST00000302926p.T627Tc.1881G>ASubstitution - coding silent
CD300EENSG00000186407ENST00000426295p.Q26Qc.78G>ASubstitution - coding silent
TBC1D8ENSG00000204634ENST00000376840p.T1063Nc.3188C>ASubstitution - Missense
TBC1D8ENSG00000204634ENST00000409318p.T1078Nc.3233C>ASubstitution - Missense
IL1RL1ENSG00000115602ENST00000233954p.Q60Hc.180G>CSubstitution - Missense
ENST00000360660p.H870fs*92c.2601_2602insCInsertion - Frameshift
PARP10ENSG00000178685ENST00000313028p.A921Tc.2761G>ASubstitution - Missense
RPL8ENSG00000161016ENST00000394920p.?c.616-6C>TUnknown
TONSLENSG00000160949ENST00000409379p.A331Dc.992C>ASubstitution - Missense
PSD3ENSG00000156011ENST00000286485p.E295Kc.883G>ASubstitution - Missense
PSD3ENSG00000156011ENST00000327040p.E829Kc.2485G>ASubstitution - Missense
PCM1ENSG00000078674ENST00000325083p.C1542Rc.4624T>CSubstitution - Missense
FGF20ENSG00000078579ENST00000180166p.G178Gc.534C>TSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.A3483Gc.10448C>GSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.S91fs*18c.264delTDeletion - Frameshift
RNF165ENSG00000141622ENST00000269439p.A71Tc.211G>ASubstitution - Missense
LRRCC1ENSG00000133739ENST00000360375p.P192Pc.576A>GSubstitution - coding silent
MBD1ENSG00000141644ENST00000457839p.A56Vc.167C>TSubstitution - Missense
MBD1ENSG00000141644ENST00000269471p.A56Vc.167C>TSubstitution - Missense
MBD1ENSG00000141644ENST00000339998p.A56Vc.167C>TSubstitution - Missense
SMAD7ENSG00000101665ENST00000262158p.E420Dc.1260G>TSubstitution - Missense
ATP8B1ENSG00000081923ENST00000283684p.L288Sc.863T>CSubstitution - Missense
RCVRNENSG00000109047ENST00000226193p.E189Ec.567G>ASubstitution - coding silent
MIB1ENSG00000101752ENST00000261537p.?c.532-2A>TUnknown
PPP6R1ENSG00000105063ENST00000412770p.V80Vc.240G>TSubstitution - coding silent
ASXL1ENSG00000171456ENST00000375687p.Q428fs*10c.1275_1276insAInsertion - Frameshift
TM9SF4ENSG00000101337ENST00000217315p.R465Cc.1393C>TSubstitution - Missense
EFCAB8ENSG00000215529ENST00000400522p.M139Tc.416T>CSubstitution - Missense
DGCR2ENSG00000070413ENST00000263196p.R492Hc.1475G>ASubstitution - Missense
GORASP2ENSG00000115806ENST00000234160p.G92Dc.275G>ASubstitution - Missense
RTN4RENSG00000040608ENST00000043402p.V363Mc.1087G>ASubstitution - Missense
HOXD9ENSG00000128709ENST00000249499p.R327Mc.980G>TSubstitution - Missense
HOXD3ENSG00000128652ENST00000249440p.T45fs*32c.133delADeletion - Frameshift
TTNENSG00000155657ENST00000342992p.P31839Sc.95515C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.P25467Sc.76399C>TSubstitution - Missense
ENST00000356127p.P31837Sc.95509C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.P25534Sc.76600C>TSubstitution - Missense
ENST00000356127p.A32255Tc.96763G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.A25952Tc.77854G>ASubstitution - Missense
NM_003319p.A25760Tc.77278G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.S23035Ic.69104G>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.S16663Ic.49988G>TSubstitution - Missense
ENST00000356127p.S23033Ic.69098G>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.S16730Ic.50189G>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.E19384Vc.58151A>TSubstitution - Missense
NM_003319p.E19259Vc.57776A>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.E10156Qc.30466G>CSubstitution - Missense
NM_003319p.E9964Qc.29890G>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.K16730Qc.50188A>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.K10358Qc.31072A>CSubstitution - Missense
ENST00000356127p.K16728Qc.50182A>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.K10425Qc.31273A>CSubstitution - Missense
NM_003319p.K10233Qc.30697A>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.E10089Qc.30265G>CSubstitution - Missense
ENST00000356127p.E16459Qc.49375G>CSubstitution - Missense
GTF3C3ENSG00000119041ENST00000263956p.L399Lc.1197C>TSubstitution - coding silent
DNAH7ENSG00000118997ENST00000312428p.L284Lc.852G>ASubstitution - coding silent
AOX1ENSG00000138356ENST00000374700p.R904Hc.2711G>ASubstitution - Missense
WDR35ENSG00000118965ENST00000345530p.Y823Hc.2467T>CSubstitution - Missense
KCTD18ENSG00000155729ENST00000359878p.A311Tc.931G>ASubstitution - Missense
CTLA4ENSG00000163599ENST00000302823p.P206fs*>18c.613delCDeletion - Frameshift
PARD3BENSG00000116117ENST00000351153p.R244Wc.730C>TSubstitution - Missense
PARD3BENSG00000116117ENST00000358768p.R244Wc.730C>TSubstitution - Missense
ENST00000331807p.K249fs*2c.739delADeletion - Frameshift
ANO7ENSG00000146205ENST00000274979p.P754Pc.2262G>CSubstitution - coding silent
PASKENSG00000115687ENST00000234040p.C546Cc.1638C>TSubstitution - coding silent
PASKENSG00000115687ENST00000234040p.C546Cc.1638C>TSubstitution - coding silent
MYEOV2ENSG00000172428ENST00000307266p.R141Rc.421A>CSubstitution - coding silent
KIF3CENSG00000084731ENST00000264712p.R613Qc.1838G>ASubstitution - Missense
EPN2ENSG00000072134ENST00000314728p.A546Tc.1636G>ASubstitution - Missense
MAP2K3ENSG00000034152ENST00000316920p.T337Mc.1010C>TSubstitution - Missense
ERAL1ENSG00000132591ENST00000254928p.I297Tc.890T>CSubstitution - Missense
GAAENSG00000171298ENST00000390015p.T158Tc.474C>ASubstitution - coding silent
CPDENSG00000108582ENST00000225719p.S491Sc.1473C>GSubstitution - coding silent
DNAH2ENSG00000183914ENST00000389173p.E3302Kc.9904G>ASubstitution - Missense
ABHD15ENSG00000168792ENST00000307201p.R148Hc.443G>ASubstitution - Missense
ENTHD2ENSG00000167302ENST00000300714p.L111Lc.333G>ASubstitution - coding silent
RNF213ENSG00000173821ENST00000336301p.Q3196Qc.9588G>ASubstitution - coding silent
OSBPL1AENSG00000141447ENST00000319481p.T3Ic.8C>TSubstitution - Missense
FOXK2ENSG00000141568ENST00000335255p.?c.1575_1577-3del862Unknown
FOXK2ENSG00000141568ENST00000335255p.?c.1102_1104-3del1078Unknown
FHOD3ENSG00000134775ENST00000257209p.P673Hc.2018C>ASubstitution - Missense
TPGS2ENSG00000134779ENST00000334295p.G33Cc.97G>TSubstitution - Missense
KRI1ENSG00000129347ENST00000312962p.E426delEc.1277_1279delAAGDeletion - In frame
KANK2ENSG00000197256ENST00000355150p.G371Sc.1111G>ASubstitution - Missense
SMARCA4ENSG00000127616ENST00000358026p.A136Vc.407C>TSubstitution - Missense
SMARCA4ENSG00000127616ENST00000429416p.A136Vc.407C>TSubstitution - Missense
ELOF1ENSG00000130165ENST00000252445p.R3Cc.7C>TSubstitution - Missense
BRWD1ENSG00000185658ENST00000333229p.R393Qc.1178G>ASubstitution - Missense
ZBTB21ENSG00000173276ENST00000398499p.H405_R406insHc.1212_1213insCATInsertion - In frame
RSPH1ENSG00000160188ENST00000291536p.G139Dc.416G>ASubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.G1535Gc.4605A>TSubstitution - coding silent
ENST00000420871_v68p.G786Gc.2358A>TSubstitution - coding silent
ANKRD36CENSG00000174501ENST00000420871p.G786Gc.2358A>TSubstitution - coding silent
ANKRD36CENSG00000174501ENST00000456556p.L1515Vc.4543C>GSubstitution - Missense
ANKRD36CENSG00000174501ENST00000420871p.L766Vc.2296C>GSubstitution - Missense
ADAM17ENSG00000151694ENST00000310823p.N447Sc.1340A>GSubstitution - Missense
SEMA4CENSG00000168758ENST00000305476p.T40Tc.120G>ASubstitution - coding silent
ANKRD36ENSG00000135976ENST00000420699p.?c.1261-4C>TUnknown
EPHA3ENSG00000044524ENST00000336596p.L771Lc.2311C>TSubstitution - coding silent
UGT2B4ENSG00000156096ENST00000305107p.?c.871-5C>TUnknown
PLXDC1ENSG00000161381ENST00000315392p.T426Ic.1277C>TSubstitution - Missense
NLRC5ENSG00000140853ENST00000262510p.P273Qc.818C>ASubstitution - Missense
KRTAP9-1ENSG00000240542ENST00000398470p.S233Sc.699C>TSubstitution - coding silent
KRTAP9-1ENSG00000240542ENST00000398470p.S112Cc.335C>GSubstitution - Missense
KRTAP9-1ENSG00000240542ENST00000398470p.S112Cc.335C>GSubstitution - Missense
DOPEY2ENSG00000142197ENST00000399151p.A1843Ac.5529C>TSubstitution - coding silent
DOPEY2ENSG00000142197ENST00000399151p.?c.6354-9A>GUnknown
BEND4ENSG00000188848ENST00000502486p.H468Yc.1402C>TSubstitution - Missense
USP19ENSG00000172046ENST00000434032p.?c.2760-6C>TUnknown
XM_496642.1p.?c.2721-6C>TUnknown
RBM5ENSG00000003756ENST00000347869p.G424Dc.1271G>ASubstitution - Missense
RBM6ENSG00000004534ENST00000266022p.E532Dc.1596G>TSubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.?c.12441+10C>TUnknown
ENST00000273600p.?c.12633+10C>TUnknown
DNAH1ENSG00000114841ENST00000420323p.L658Pc.1973T>CSubstitution - Missense
ENST00000273600p.L658Pc.1973T>CSubstitution - Missense
UNC93AENSG00000112494ENST00000230256p.G355Gc.1065C>TSubstitution - coding silent
PBRM1ENSG00000163939ENST00000356770p.G1199*c.3595G>TSubstitution - Nonsense
FAM120BENSG00000112584ENST00000476287p.R422Rc.1266G>ASubstitution - coding silent
HIST1H1EENSG00000168298ENST00000304218p.E3Ec.9G>ASubstitution - coding silent
SLC17A2ENSG00000112337ENST00000377850p.T376Tc.1128C>TSubstitution - coding silent
HIST1H2BFENSG00000197846ENST00000359985p.*127fs?c.379_380delTADeletion - Frameshift
FAM133BENSG00000234545ENST00000445716p.S108Sc.324T>ASubstitution - coding silent
AKAP9ENSG00000127914ENST00000356239p.E2204Dc.6612G>TSubstitution - Missense
NM_147171.1p.E2216Dc.6648G>TSubstitution - Missense
TECPR1ENSG00000205356ENST00000379795p.A355Ac.1065C>TSubstitution - coding silent
LMTK2ENSG00000164715ENST00000297293p.V465Vc.1395G>ASubstitution - coding silent
CPSF4ENSG00000160917ENST00000292476p.P213Hc.638C>ASubstitution - Missense
ZNF394ENSG00000160908ENST00000337673p.H441Rc.1322A>GSubstitution - Missense
ENST00000532796p.L194Lc.582C>TSubstitution - coding silent
HSF1ENSG00000185122ENST00000528838p.?c.564+3delgUnknown
MROH1ENSG00000179832ENST00000528919p.S4Sc.12C>ASubstitution - coding silent
PTCH1ENSG00000185920ENST00000331920p.R1308fs*17c.3914_3915insCInsertion - Frameshift
PTCH1ENSG00000185920ENST00000331920p.R1308fs*17c.3914_3915insCInsertion - Frameshift
PTCH1ENSG00000185920ENST00000375274p.R1307fs*17c.3911_3912insCInsertion - Frameshift
IL1RAPL2ENSG00000189108ENST00000372582p.?c.1363+8C>GUnknown
SERPINA7ENSG00000123561ENST00000327674p.T313Ac.937A>GSubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.C2354Yc.7061G>ASubstitution - Missense
WDR81ENSG00000167716ENST00000437219p.P106Hc.317C>ASubstitution - Missense
RECQL5ENSG00000108469ENST00000584999p.K309Nc.927G>TSubstitution - Missense
NM_004259.4p.K282Nc.846G>TSubstitution - Missense
XM_290732.4p.T1321Mc.3962C>TSubstitution - Missense
UNKENSG00000132478ENST00000293218p.R71Hc.212G>ASubstitution - Missense
SYNGR2ENSG00000108639ENST00000225777p.L139Lc.417G>TSubstitution - coding silent
DNAH2ENSG00000183914ENST00000389173p.R2602Cc.7804C>TSubstitution - Missense
ZNF99ENSG00000213973ENST00000397104p.P96Tc.286C>ASubstitution - Missense
TDRD12ENSG00000173809ENST00000444215p.N597fs*25c.1783delADeletion - Frameshift
ZNF507ENSG00000168813ENST00000355898p.N775Nc.2325C>TSubstitution - coding silent
TSHZ3ENSG00000121297ENST00000240587p.S112Lc.335C>TSubstitution - Missense
PPFIA3ENSG00000177380ENST00000334186p.L874Lc.2620C>TSubstitution - coding silent
KIAA0355ENSG00000166398ENST00000299505p.T962Mc.2885C>TSubstitution - Missense
ENST00000253720p.P225Pc.675T>ASubstitution - coding silent
NRSN2ENSG00000125841ENST00000382285p.G38Dc.113G>ASubstitution - Missense
SLC4A11ENSG00000088836ENST00000380059p.?c.2321+4A>GUnknown
SLC4A11ENSG00000088836ENST00000380056p.?c.2240+4A>GUnknown
PHF20ENSG00000025293ENST00000374012p.P982Pc.2946G>TSubstitution - coding silent
UQCC1ENSG00000101019ENST00000374385p.G225Rc.673G>ASubstitution - Missense
RPN2ENSG00000118705ENST00000237530p.P552Pc.1656G>ASubstitution - coding silent
ATRNENSG00000088812ENST00000262919p.D810Dc.2430C>TSubstitution - coding silent
ENST00000237536_v68p.E932Dc.2796A>TSubstitution - Missense
SOGA1ENSG00000149639ENST00000237536p.E932Dc.2796A>TSubstitution - Missense
EPB41L1ENSG00000088367ENST00000338074p.?c.1124+6C>TUnknown
KCNG1ENSG00000026559ENST00000371571p.C385Cc.1155C>TSubstitution - coding silent
SYCP2ENSG00000196074ENST00000357552p.R1514Hc.4541G>ASubstitution - Missense
ZNF831ENSG00000124203ENST00000371030p.P50Sc.148C>TSubstitution - Missense
CTCFLENSG00000124092ENST00000243914p.S376Sc.1128C>TSubstitution - coding silent
LSM14BENSG00000149657ENST00000279068p.Y312Yc.936T>CSubstitution - coding silent
SS18L1ENSG00000184402ENST00000370848p.G41Cc.121G>TSubstitution - Missense
CADPS2ENSG00000081803ENST00000449022p.V799Vc.2397G>CSubstitution - coding silent
SLC35B4ENSG00000205060ENST00000378509p.V208Ic.622G>ASubstitution - Missense
EXOC4ENSG00000131558ENST00000545148p.R234Mc.701G>TSubstitution - Missense
ARHGEF39ENSG00000137135ENST00000378387p.Q64Rc.191A>GSubstitution - Missense
NM_032818.1p.Q64Rc.191A>GSubstitution - Missense
C9orf131ENSG00000174038ENST00000312292p.L927Mc.2779C>ASubstitution - Missense
GLIS3ENSG00000107249ENST00000381971p.S209Sc.627C>TSubstitution - coding silent
GLIS3ENSG00000107249ENST00000324333p.S54Sc.162C>TSubstitution - coding silent
CNTNAP3ENSG00000106714ENST00000297668p.S1280Sc.3840A>GSubstitution - coding silent
SPATA31A3ENSG00000147926ENST00000356699p.S1180fs*9c.3538_3539insAInsertion - Frameshift
ZCCHC7ENSG00000147905ENST00000336755p.T330Tc.990C>TSubstitution - coding silent
TMEM8BENSG00000137103ENST00000377996p.V96Lc.286G>CSubstitution - Missense
NM_032682.3p.?c.664+6C>TUnknown
NM_032682.3p.?c.664+5G>AUnknown
FAM160B2ENSG00000158863ENST00000289921p.D362Yc.1084G>TSubstitution - Missense
ENST00000356512p.D88Yc.262G>TSubstitution - Missense
ZNF596ENSG00000172748ENST00000308811p.S41Nc.122G>ASubstitution - Missense
ZNF596ENSG00000172748ENST00000308811p.F144fs*7c.423_424insAInsertion - Frameshift
CDCA2ENSG00000184661ENST00000330560p.R640Hc.1919G>ASubstitution - Missense
EBF2ENSG00000221818ENST00000520164p.R151Lc.452G>TSubstitution - Missense
CCAR2ENSG00000158941ENST00000389279p.T488Tc.1464C>TSubstitution - coding silent
LEPROTL1ENSG00000104660ENST00000321250p.S9Nc.26G>ASubstitution - Missense
INTS8ENSG00000164941ENST00000523731p.Y929Yc.2787C>TSubstitution - coding silent
CCDC180ENSG00000197816ENST00000375202p.G746Cc.2236G>TSubstitution - Missense
MATN2ENSG00000132561ENST00000520016p.?c.713-3C>TUnknown
MATN2ENSG00000132561ENST00000520016p.?c.713-3C>TUnknown
MRC2ENSG00000011028ENST00000303375p.C1220fs*16c.3650_3651insGInsertion - Frameshift
CSH1ENSG00000136488ENST00000316193p.I164Tc.491T>CSubstitution - Missense
TLE3ENSG00000140332ENST00000317509p.K569Nc.1707G>TSubstitution - Missense
IQCHENSG00000103599ENST00000335894p.S607Sc.1821T>CSubstitution - coding silent
SLC44A3ENSG00000143036ENST00000271227p.V589fs*11c.1764_1765delTGDeletion - Frameshift
GFI1ENSG00000162676ENST00000294702p.P2Pc.6G>ASubstitution - coding silent
PCID2ENSG00000126226ENST00000246505p.S298Nc.893G>ASubstitution - Missense
C1QTNF9BENSG00000205863ENST00000382140p.I193fs*5c.577delADeletion - Frameshift
GJD2ENSG00000159248ENST00000290374p.V29Vc.87G>CSubstitution - coding silent
RASGRP1ENSG00000172575ENST00000310803p.L331Lc.993G>CSubstitution - coding silent
DNAJC21ENSG00000168724ENST00000382021p.Q174Kc.520C>ASubstitution - Missense
LTKENSG00000062524ENST00000355166p.L783Ic.2347C>ASubstitution - Missense
C5orf42ENSG00000197603ENST00000274258p.?c.2540+5G>AUnknown
NIPBLENSG00000164190ENST00000282516p.?c.5575-4T>CUnknown
SLC1A3ENSG00000079215ENST00000265113p.Q425Kc.1273C>ASubstitution - Missense
IRX1ENSG00000170549ENST00000302006p.D461Nc.1381G>ASubstitution - Missense
ENST00000446427p.L395Mc.1183C>ASubstitution - Missense
NM_003954p.?c.1291-2A>TUnknown
ITGB3ENSG00000259207ENST00000435993p.I370Nc.1109T>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T8214Ic.24641C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T8214Ic.24641C>TSubstitution - Missense
ENST00000331986p.T3847Ic.11540C>TSubstitution - Missense
NM_032133.2p.?c.94+7G>AUnknown
GP1BAENSG00000185245ENST00000329125p.V466Mc.1396G>ASubstitution - Missense
SPTLC3ENSG00000172296ENST00000450297p.V77Vc.231G>ASubstitution - coding silent
SPTLC3ENSG00000172296ENST00000399002p.S394Sc.1182G>ASubstitution - coding silent
PSMF1ENSG00000125818ENST00000335877p.D211Nc.631G>ASubstitution - Missense
RRBP1ENSG00000125844ENST00000360807p.L948Pc.2843T>CSubstitution - Missense
RRBP1ENSG00000125844ENST00000377813p.L1381Pc.4142T>CSubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.S417Sc.1251C>ASubstitution - coding silent
C20orf26ENSG00000089101ENST00000245957p.A822Vc.2465C>TSubstitution - Missense
RIN2ENSG00000132669ENST00000255006p.I627fs*7c.1878_1879insCInsertion - Frameshift
NM_018993.2p.I578fs*7c.1731_1732insCInsertion - Frameshift
SLC24A3ENSG00000185052ENST00000328041p.E103Dc.309G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.D4083Nc.12247G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.K3875Nc.11625A>CSubstitution - Missense
ENST00000356127p.P5901Pc.17703T>CSubstitution - coding silent
CD93ENSG00000125810ENST00000246006p.E380Ec.1140G>ASubstitution - coding silent
NM_003319p.D3048Dc.9144C>TSubstitution - coding silent
CWC22ENSG00000163510ENST00000410053p.T486Ic.1457C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.I443Nc.1328T>ASubstitution - Missense
TTNENSG00000155657ENST00000360870p.I443Nc.1328T>ASubstitution - Missense
TFPIENSG00000003436ENST00000392365p.L127fs*36c.380delTDeletion - Frameshift
DNAJC10ENSG00000077232ENST00000264065p.N376fs*2c.1127_1128insAInsertion - Frameshift
MYO1BENSG00000128641ENST00000392318p.?c.2766+3delaUnknown
MYO1BENSG00000128641ENST00000339514p.?c.2592+3delaUnknown
MFSD6ENSG00000151690ENST00000392328p.R196Hc.587G>ASubstitution - Missense
ANKARENSG00000151687ENST00000520309p.G1434Cc.4300G>TSubstitution - Missense
HS1BP3ENSG00000118960ENST00000304031p.P92fs*41c.275delCDeletion - Frameshift
ZDBF2ENSG00000204186ENST00000374423p.V522Vc.1566G>ASubstitution - coding silent
XRCC5ENSG00000079246ENST00000392133p.I27Lc.79A>TSubstitution - Missense
PECRENSG00000115425ENST00000265322p.?c.826+6C>TUnknown
BARD1ENSG00000138376ENST00000260947p.T299Tc.897T>GSubstitution - coding silent
PXDNLENSG00000147485ENST00000356297p.R256Rc.768G>ASubstitution - coding silent
PCMTD1ENSG00000168300ENST00000360540p.R271Rc.813G>ASubstitution - coding silent
TTPAENSG00000137561ENST00000260116p.H101Qc.303T>GSubstitution - Missense
MCPH1ENSG00000147316ENST00000344683p.C463Cc.1389C>TSubstitution - coding silent
TCEA1ENSG00000187735ENST00000521604p.K19delKc.57_59delGAADeletion - In frame
ENST00000409172p.S110Sc.330G>ASubstitution - coding silent
NM_003069.2p.P778Qc.2333C>ASubstitution - Missense
USP26ENSG00000134588ENST00000370832p.K627Tc.1880A>CSubstitution - Missense
TUBB4AENSG00000104833ENST00000264071p.T285Mc.854C>TSubstitution - Missense
CLEC4MENSG00000104938ENST00000327325p.D332Nc.994G>ASubstitution - Missense
STXBP2ENSG00000076944ENST00000221283p.?c.246+7A>GUnknown
ENST00000331986p.S6496Tc.19486T>ASubstitution - Missense
R3HDM4ENSG00000198858ENST00000361574p.R166Hc.497G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000399634p.L1925Fc.5773C>TSubstitution - Missense
ENST00000322367p.L1389Fc.4165C>TSubstitution - Missense
PKP2ENSG00000057294ENST00000070846p.N634Nc.1902C>TSubstitution - coding silent
PGLYRP3ENSG00000159527ENST00000290722p.Q228Qc.684G>ASubstitution - coding silent
SHC1ENSG00000160691ENST00000444664p.V27fs*3c.77_78insGGInsertion - Frameshift
TDRD10ENSG00000163239ENST00000368480p.H96Hc.288C>TSubstitution - coding silent
UBAP2LENSG00000143569ENST00000361546p.H1048Rc.3143A>GSubstitution - Missense
ENST00000303840p.E135Dc.405G>TSubstitution - Missense
ASH1LENSG00000116539ENST00000392403p.K2357Kc.7071G>ASubstitution - coding silent
THBS3ENSG00000169231ENST00000368378p.R37Lc.110G>TSubstitution - Missense
KIF21BENSG00000116852ENST00000332129p.G468Gc.1404C>TSubstitution - coding silent
CYB5R1ENSG00000159348ENST00000367249p.R302*c.904C>TSubstitution - Nonsense
ELF3ENSG00000163435ENST00000359651p.A186Tc.556G>ASubstitution - Missense
DSTYKENSG00000133059ENST00000367162p.L384Mc.1150C>ASubstitution - Missense
CNTN2ENSG00000184144ENST00000331830p.D277Nc.829G>ASubstitution - Missense
CNTN2ENSG00000184144ENST00000331830p.?c.2545-1G>TUnknown
LRRN2ENSG00000170382ENST00000367175p.T42Tc.126G>ASubstitution - coding silent
PLEKHA6ENSG00000143850ENST00000272203p.D976Dc.2928C>TSubstitution - coding silent
SLC26A9ENSG00000174502ENST00000367135p.?c.1389+6T>CUnknown
GCNT3ENSG00000140297ENST00000396065p.P287fs*4c.856delCDeletion - Frameshift
RFX7ENSG00000181827ENST00000423270p.S1016fs*4c.3038_3039insCInsertion - Frameshift
RFX7ENSG00000181827ENST00000317318p.S919fs*4c.2747_2748insCInsertion - Frameshift
FAM181BENSG00000182103ENST00000329203p.E420fs*>7c.1258delGDeletion - Frameshift
ST5ENSG00000166444ENST00000534127p.G356Gc.1068C>ASubstitution - coding silent
FAT3ENSG00000165323ENST00000409404p.K3086Qc.9256A>CSubstitution - Missense
ENST00000298047_v61p.K3086Qc.9256A>CSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.Y2254Yc.6762C>TSubstitution - coding silent
SCUBE2ENSG00000175356ENST00000457346p.G673Wc.2017G>TSubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.Q1171Hc.3513A>CSubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.Q1171Hc.3513A>CSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.A4433Ac.13299C>ASubstitution - coding silent
ENST00000298047_v61p.A4465Ac.13395C>ASubstitution - coding silent
FAT3ENSG00000165323ENST00000298047p.A1040Ac.3120C>ASubstitution - coding silent
ABCB9ENSG00000150967ENST00000392439p.A212Vc.635C>TSubstitution - Missense
TMEM132BENSG00000139364ENST00000299308p.A468Ac.1404C>ASubstitution - coding silent
BRI3BPENSG00000184992ENST00000341446p.S114Nc.341G>ASubstitution - Missense
NCOR2ENSG00000196498ENST00000405201p.I976fs*8c.2925_2926insCInsertion - Frameshift
NM_006312.2p.I976fs*8c.2925_2926insCInsertion - Frameshift
ULK1ENSG00000177169ENST00000321867p.G530Sc.1588G>ASubstitution - Missense
EP400ENSG00000183495ENST00000389561p.A108Tc.322G>ASubstitution - Missense
EP400ENSG00000183495ENST00000389561p.R832Gc.2494C>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.N85fs*34c.253_254insGAInsertion - Frameshift
PDE4DIPENSG00000178104ENST00000369348p.N156fs*34c.462_463insGAInsertion - Frameshift
OR14C36ENSG00000177174ENST00000317861p.V106fs*14c.315_316insTInsertion - Frameshift
OR2L2ENSG00000203663ENST00000366479p.L112Lc.336G>ASubstitution - coding silent
OR2L2ENSG00000203663ENST00000366479p.T301Ac.901A>GSubstitution - Missense
WASF2ENSG00000158195ENST00000430629p.L441Lc.1323T>GSubstitution - coding silent
NEGR1ENSG00000172260ENST00000357731p.L133Lc.399A>TSubstitution - coding silent
KTN1ENSG00000126777ENST00000416613p.T631Ac.1891A>GSubstitution - Missense
DDHD1ENSG00000100523ENST00000357758p.S604Sc.1812T>CSubstitution - coding silent
REREENSG00000142599ENST00000400908p.P151fs*23c.452delCDeletion - Frameshift
NAA30ENSG00000139977ENST00000556492p.N326Ic.977A>TSubstitution - Missense
NM_006255p.H606Hc.1818C>TSubstitution - coding silent
GALCENSG00000054983ENST00000261304p.V341Lc.1021G>CSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.L916Lc.2748C>GSubstitution - coding silent
CCDC88CENSG00000015133ENST00000389857p.L916Lc.2748C>GSubstitution - coding silent
NRDE2ENSG00000119720ENST00000354366p.R1019Sc.3057A>TSubstitution - Missense
ZC3H14ENSG00000100722ENST00000251038p.E692Kc.2074G>ASubstitution - Missense
ZC3H14ENSG00000100722ENST00000318308p.E262Kc.784G>ASubstitution - Missense
UNC79ENSG00000133958ENST00000256339p.C2309Cc.6927C>TSubstitution - coding silent
UNC79ENSG00000133958ENST00000553484p.C2508Cc.7524C>TSubstitution - coding silent
ZNF609ENSG00000180357ENST00000326648p.S685Sc.2055A>CSubstitution - coding silent
KIAA0101ENSG00000166803ENST00000300035p.S72Yc.215C>ASubstitution - Missense
TLN2ENSG00000171914ENST00000306829p.T1518Tc.4554G>ASubstitution - coding silent
GLRX2ENSG00000023572ENST00000367440p.S159fs*>7c.475delADeletion - Frameshift
MYH11ENSG00000133392ENST00000396324p.R1336Qc.4007G>ASubstitution - Missense
ENST00000338282p.R1329Qc.3986G>ASubstitution - Missense
HS3ST6ENSG00000162040ENST00000443547p.R134Hc.401G>ASubstitution - Missense
KNOP1ENSG00000103550ENST00000219837p.E141Kc.421G>ASubstitution - Missense
NTHL1ENSG00000065057ENST00000219066p.A170Ac.510C>TSubstitution - coding silent
NEBLENSG00000078114ENST00000377122p.G978Sc.2932G>ASubstitution - Missense
GAD2ENSG00000136750ENST00000259271p.E226Gc.677A>GSubstitution - Missense
ADAM21ENSG00000139985ENST00000267499p.T93Tc.279A>CSubstitution - coding silent
GALNT16ENSG00000100626ENST00000337827p.G319fs*83c.950delGDeletion - Frameshift
ACOT2ENSG00000119673ENST00000238651p.G287Ec.860G>ASubstitution - Missense
SLCO3A1ENSG00000176463ENST00000318445p.C271Cc.813C>TSubstitution - coding silent
FESENSG00000182511ENST00000328850p.T345Tc.1035C>TSubstitution - coding silent
CIITAENSG00000179583ENST00000324288p.G113Gc.339C>TSubstitution - coding silent
SLCO3A1ENSG00000176463ENST00000318445p.L602Lc.1806G>ASubstitution - coding silent
CACNA1HENSG00000196557ENST00000358590p.R705Lc.2114G>TSubstitution - Missense
FRMPD2ENSG00000170324ENST00000374201p.R587Qc.1760G>ASubstitution - Missense
RBP3ENSG00000107618ENST00000224600p.T943Tc.2829G>ASubstitution - coding silent
CHATENSG00000070748ENST00000337653p.E441Kc.1321G>ASubstitution - Missense
HKDC1ENSG00000156510ENST00000354624p.T234Tc.702C>ASubstitution - coding silent
LRRTM3ENSG00000198739ENST00000361320p.M493Tc.1478T>CSubstitution - Missense
NM_139155.1p.L474Lc.1422G>ASubstitution - coding silent
LGALS12ENSG00000133317ENST00000394618p.L65Lc.195G>ASubstitution - coding silent
SLC22A8ENSG00000149452ENST00000336232p.I175Vc.523A>GSubstitution - Missense
KCNK7ENSG00000173338ENST00000394216p.V78Vc.234C>ASubstitution - coding silent
KCNK7ENSG00000173338ENST00000394217p.V78Vc.234C>ASubstitution - coding silent
DPF2ENSG00000133884ENST00000528416p.L128fs*21c.378delCDeletion - Frameshift
CATSPER1ENSG00000175294ENST00000312106p.G97Dc.290G>ASubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.V1309Mc.3925G>ASubstitution - Missense
SZT2ENSG00000198198ENST00000562955p.V2151Mc.6451G>ASubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.?c.25-1G>AUnknown
TIE1ENSG00000066056ENST00000372476p.P630Pc.1890G>ASubstitution - coding silent
SLC8B1ENSG00000089060ENST00000202831p.T574Ac.1720A>GSubstitution - Missense
IQCDENSG00000166578ENST00000299732p.L194Lc.580C>TSubstitution - coding silent
MED13LENSG00000123066ENST00000281928p.P759Sc.2275C>TSubstitution - Missense
TBX5ENSG00000089225ENST00000526441p.L346Lc.1036T>CSubstitution - coding silent
COX6A1ENSG00000111775ENST00000229379p.N96Nc.288C>TSubstitution - coding silent
SU_CRIKp.A245Vc.734C>TSubstitution - Missense
WDR66ENSG00000158023ENST00000288912p.S1051Rc.3153C>ASubstitution - Missense
TRIM33ENSG00000197323ENST00000358465p.S720delSc.2158_2160delTCTDeletion - In frame
LRP6ENSG00000070018ENST00000261349p.V1380Ic.4138G>ASubstitution - Missense
HSD3B1ENSG00000203857ENST00000369413p.G13Rc.37G>ASubstitution - Missense
SPAG17ENSG00000155761ENST00000336338p.?c.229-4A>GUnknown
DVL1ENSG00000107404ENST00000378891p.?c.1433-5G>AUnknown
ENST00000369053p.I146Ic.438T>CSubstitution - coding silent
PRPF3ENSG00000117360ENST00000324862p.A673Ac.2019G>ASubstitution - coding silent
OAZ3ENSG00000143450ENST00000321531p.R52Cc.154C>TSubstitution - Missense
PRUNEENSG00000143363ENST00000271620p.A329Vc.986C>TSubstitution - Missense
SPTBN5ENSG00000137877ENST00000320955p.R342Rc.1026G>ASubstitution - coding silent
ZNF106ENSG00000103994ENST00000263805p.Q361Qc.1083G>ASubstitution - coding silent
CDCP2ENSG00000157211ENST00000371330p.V148Ic.442G>ASubstitution - Missense
ORC1ENSG00000085840ENST00000371568p.G527Rc.1579G>ASubstitution - Missense
AGBL4ENSG00000186094ENST00000371839p.Y279*c.837C>ASubstitution - Nonsense
AGBL4ENSG00000186094ENST00000371838p.Y279*c.837C>ASubstitution - Nonsense
LDLRAD1ENSG00000203985ENST00000371360p.D149Gc.446A>GSubstitution - Missense
CDKL1ENSG00000100490ENST00000395834p.R354Hc.1061G>ASubstitution - Missense
KLHDC1ENSG00000197776ENST00000359332p.L263Lc.787C>TSubstitution - coding silent
MDGA2ENSG00000139915ENST00000399232p.T850Sc.2548A>TSubstitution - Missense
NID2ENSG00000087303ENST00000216286p.?c.3421-7C>TUnknown
OR4F15ENSG00000182854ENST00000332238p.L27delLc.73_75delCTTDeletion - In frame
SU_LRRK1p.P1190Pc.3570C>ASubstitution - coding silent
ETNK1ENSG00000139163ENST00000335148p.G250Wc.748G>TSubstitution - Missense
DDX11ENSG00000013573ENST00000407793p.A381Ac.1143G>ASubstitution - coding silent
CACNA1CENSG00000151067ENST00000344100p.L1895Fc.5683C>TSubstitution - Missense
PYROXD2ENSG00000119943ENST00000370575p.S429Sc.1287C>TSubstitution - coding silent
ENST00000393462p.R661Hc.1982G>ASubstitution - Missense
PPRC1ENSG00000148840ENST00000278070p.A261Dc.782C>ASubstitution - Missense
XPNPEP1ENSG00000108039ENST00000502935p.R578Hc.1733G>ASubstitution - Missense
CNTN1ENSG00000018236ENST00000551295p.V942Ac.2825T>CSubstitution - Missense
MUC19ENSG00000205592ENST00000425730p.V1112Mc.3334G>ASubstitution - Missense
SLC38A2ENSG00000134294ENST00000256689p.S210Sc.630G>ASubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000389420p.S1822fs*37c.5464delTDeletion - Frameshift
MTMR6ENSG00000139505ENST00000381801p.M234Ic.702G>ASubstitution - Missense
CENPJENSG00000151849ENST00000381884p.M21Lc.61A>TSubstitution - Missense
USPL1ENSG00000132952ENST00000255304p.R717Hc.2150G>ASubstitution - Missense
WASF3ENSG00000132970ENST00000335327p.Q463Qc.1389G>ASubstitution - coding silent
RNF6ENSG00000127870ENST00000346166p.R119Cc.355C>TSubstitution - Missense
RFC3ENSG00000133119ENST00000434425p.V184Vc.552G>ASubstitution - coding silent
PRRX1ENSG00000116132ENST00000367760p.K90fs*42c.263delADeletion - Frameshift
POSTNENSG00000133110ENST00000379747p.D811Yc.2431G>TSubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.G1199Dc.3596G>ASubstitution - Missense
NM_007365.1p.T114Ic.341C>TSubstitution - Missense
MEAF6ENSG00000163875ENST00000373074p.F5fs*39c.14delTDeletion - Frameshift
CSF3RENSG00000119535ENST00000373103p.?c.1864+5G>TUnknown
NM_004667.3p.Y2324Yc.6972C>TSubstitution - coding silent
ATP10AENSG00000206190ENST00000356865p.K996*c.2986A>TSubstitution - Nonsense
ENST00000563027_v68p.S553Fc.1658C>TSubstitution - Missense
PBX1ENSG00000185630ENST00000420696p.C70Cc.210C>TSubstitution - coding silent
SPENENSG00000065526ENST00000375759p.R1416Cc.4246C>TSubstitution - Missense
GTF2H1ENSG00000110768ENST00000453096p.?c.347+1G>AUnknown
OTOGENSG00000188162ENST00000399397p.A1866Tc.5596G>ASubstitution - Missense
ASTN1ENSG00000152092ENST00000361833p.R373Ic.1118G>TSubstitution - Missense
LHX4ENSG00000121454ENST00000263726p.A125Dc.374C>ASubstitution - Missense
TOR1AIP1ENSG00000143337ENST00000435319p.R148Gc.442A>GSubstitution - Missense
SMG7ENSG00000116698ENST00000347615p.A229Tc.685G>ASubstitution - Missense
SMG7ENSG00000116698ENST00000507469p.H403Lc.1208A>TSubstitution - Missense
SMG7ENSG00000116698ENST00000347615p.H403Lc.1208A>TSubstitution - Missense
CACNA1EENSG00000198216ENST00000367570p.D1431fs*3c.4288delGDeletion - Frameshift
RNF214ENSG00000167257ENST00000531452p.K277Ec.829A>GSubstitution - Missense
BACE1ENSG00000186318ENST00000313005p.Y403Yc.1209C>TSubstitution - coding silent
TAGLNENSG00000149591ENST00000392951p.K78Tc.233A>CSubstitution - Missense
NXPE2ENSG00000204361ENST00000389586p.F100Ic.298T>ASubstitution - Missense
TRIM29ENSG00000137699ENST00000341846p.S164Sc.492C>TSubstitution - coding silent
OAFENSG00000184232ENST00000328965p.C227fs*>47c.675delCDeletion - Frameshift
DYNC2H1ENSG00000187240ENST00000398093p.Q599Qc.1797A>GSubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.A961Vc.2882C>TSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.A961Vc.2882C>TSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.S1699Yc.5096C>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.S1699Yc.5096C>ASubstitution - Missense
ENST00000282251_v68p.E330Ac.989A>CSubstitution - Missense
MRVI1ENSG00000072952ENST00000547195p.P436Pc.1308A>GSubstitution - coding silent
GUCY1A2ENSG00000152402ENST00000526355p.S645Sc.1935C>TSubstitution - coding silent
LAYNENSG00000204381ENST00000375615p.D31Nc.91G>ASubstitution - Missense
SIRT3ENSG00000142082ENST00000382743p.R235Kc.704G>ASubstitution - Missense
IGF2ENSG00000167244ENST00000381395p.P173fs*>8c.518delCDeletion - Frameshift
ELP4ENSG00000109911ENST00000350638p.A79Ac.237C>TSubstitution - coding silent
ELP4ENSG00000109911ENST00000395934p.A79Ac.237C>TSubstitution - coding silent
LIN7CENSG00000148943ENST00000278193p.?c.156+10C>TUnknown
WDR47ENSG00000085433ENST00000369965p.G201Dc.602G>ASubstitution - Missense
AKNAD1ENSG00000162641ENST00000370001p.P570Sc.1708C>TSubstitution - Missense
FNDC7ENSG00000143107ENST00000370017p.T71Ac.211A>GSubstitution - Missense
MTORENSG00000198793ENST00000361445p.P1951Sc.5851C>TSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.V1070Ec.3209T>ASubstitution - Missense
FMO5ENSG00000131781ENST00000254090p.L439Fc.1315C>TSubstitution - Missense
NUDT17ENSG00000186364ENST00000334513p.R113Cc.337C>TSubstitution - Missense
ANKRD35ENSG00000198483ENST00000355594p.A341Vc.1022C>TSubstitution - Missense
ANKRD35ENSG00000198483ENST00000355594p.D376Dc.1128C>TSubstitution - coding silent
UBR4ENSG00000127481ENST00000375254p.S4975Nc.14924G>ASubstitution - Missense
NUP160ENSG00000030066ENST00000378460p.E414Ac.1241A>CSubstitution - Missense
OR10X1ENSG00000186400ENST00000368150p.K252Kc.756G>ASubstitution - coding silent
NAB2ENSG00000166886ENST00000300131p.P211fs*58c.626delCDeletion - Frameshift
MYO1AENSG00000166866ENST00000300119p.T150Tc.450C>TSubstitution - coding silent
SLC16A7ENSG00000118596ENST00000261187p.F172Yc.515T>ASubstitution - Missense
AGAP2ENSG00000135439ENST00000547588p.K698Rc.2093A>GSubstitution - Missense
CDK4ENSG00000135446ENST00000257904p.R246fs*31c.736delCDeletion - Frameshift
R3HDM2ENSG00000179912ENST00000347140p.Q393Qc.1179G>ASubstitution - coding silent
ENST00000393811p.Q54Qc.162G>ASubstitution - coding silent
R3HDM2ENSG00000179912ENST00000441731p.Q54Qc.162G>ASubstitution - coding silent
LRP1ENSG00000123384ENST00000243077p.A3316Ac.9948C>ASubstitution - coding silent
NCAPD2ENSG00000010292ENST00000315579p.T1352Tc.4056C>ASubstitution - coding silent
LLPHENSG00000139233ENST00000266604p.D71fs*3c.210delADeletion - Frameshift
SLC6A15ENSG00000072041ENST00000266682p.I576Nc.1727T>ASubstitution - Missense
CEP290ENSG00000198707ENST00000552810p.Q2035fs*9c.6102_6103insAInsertion - Frameshift
MORN1ENSG00000116151ENST00000378531p.A316fs*117c.946delGDeletion - Frameshift
PCNXL2ENSG00000135749ENST00000258229p.E491Kc.1471G>ASubstitution - Missense
EPHB2ENSG00000133216ENST00000374627p.V373Ac.1118T>CSubstitution - Missense
NID1ENSG00000116962ENST00000264187p.I548Vc.1642A>GSubstitution - Missense
GOLGA3ENSG00000090615ENST00000545875p.N495fs*25c.1484delADeletion - Frameshift
GOLGA3ENSG00000090615ENST00000456883p.N495fs*25c.1484delADeletion - Frameshift
POLEENSG00000177084ENST00000320574p.W1348*c.4043G>ASubstitution - Nonsense
POLEENSG00000177084ENST00000320574p.W1348*c.4043G>ASubstitution - Nonsense
MTRENSG00000116984ENST00000366577p.?c.409+5G>AUnknown
MTRENSG00000116984ENST00000418145p.?c.577+5G>AUnknown
PIK3C2GENSG00000139144ENST00000433979p.F1192Fc.3576T>CSubstitution - coding silent
CHRNB4ENSG00000117971ENST00000261751p.C260Cc.780C>TSubstitution - coding silent
KRT74ENSG00000170484ENST00000305620p.S497Nc.1490G>ASubstitution - Missense
KRT7ENSG00000135480ENST00000331817p.R351Hc.1052G>ASubstitution - Missense
ENST00000543899p.?c.861-3C>TUnknown
AP3B2ENSG00000103723ENST00000261722p.Q986*c.2956C>TSubstitution - Nonsense
AP3B2ENSG00000103723ENST00000261722p.V819Ic.2455G>ASubstitution - Missense
KIAA1199ENSG00000103888ENST00000356249p.R643Cc.1927C>TSubstitution - Missense
NM_172217.1p.K235Rc.704A>GSubstitution - Missense
ADAMTS7ENSG00000136378ENST00000388820p.R964Cc.2890C>TSubstitution - Missense
P4HA3ENSG00000149380ENST00000331597p.D231Gc.692A>GSubstitution - Missense
B3GNT6ENSG00000198488ENST00000533140p.A210Tc.628G>ASubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.C341Cc.1023C>TSubstitution - coding silent
USP35ENSG00000118369ENST00000529308p.R759Cc.2275C>TSubstitution - Missense
XM_290527.3p.R515Cc.1543C>TSubstitution - Missense
ENST00000317359p.Y260Yc.780T>CSubstitution - coding silent
KNDC1ENSG00000171798ENST00000304613p.R381Hc.1142G>ASubstitution - Missense
OR11H12ENSG00000257115ENST00000550708p.W65Cc.195G>TSubstitution - Missense
MS4A4AENSG00000110079ENST00000395016p.L56Lc.168G>CSubstitution - coding silent
OR52N2ENSG00000180988ENST00000317037p.L84Lc.250C>TSubstitution - coding silent
ZP1ENSG00000149506ENST00000278853p.Y346Yc.1038T>CSubstitution - coding silent
EML3ENSG00000149499ENST00000394773p.R42Hc.125G>ASubstitution - Missense
SCGB1D1ENSG00000168515ENST00000306238p.R2Rc.6G>ASubstitution - coding silent
RBMXL2ENSG00000170748ENST00000306904p.R367Wc.1099C>TSubstitution - Missense
ZNF214ENSG00000149050ENST00000278314p.P385Pc.1155A>GSubstitution - coding silent
ANO1ENSG00000131620ENST00000355303p.R477Hc.1430G>ASubstitution - Missense
NUDT4ENSG00000173598ENST00000337179p.N154Ic.461A>TSubstitution - Missense
NALCNENSG00000102452ENST00000251127p.F1151fs*4c.3453delTDeletion - Frameshift
TMPOENSG00000120802ENST00000556029p.K407fs*9c.1215delADeletion - Frameshift
PLCH2ENSG00000149527ENST00000378486p.A313Vc.938C>TSubstitution - Missense
DUSP5ENSG00000138166ENST00000369583p.T235Mc.704C>TSubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.V382Vc.1146G>CSubstitution - coding silent
COX20ENSG00000203667ENST00000411948p.R89Ic.266G>TSubstitution - Missense
CASP7ENSG00000165806ENST00000369321p.C172Cc.516C>TSubstitution - coding silent
INPP5FENSG00000198825ENST00000361976p.R801*c.2401C>TSubstitution - Nonsense
DHTKD1ENSG00000181192ENST00000263035p.H277Dc.829C>GSubstitution - Missense
SLC18A2ENSG00000165646ENST00000298472p.A229Ac.687C>TSubstitution - coding silent
FAM160B1ENSG00000151553ENST00000369248p.D560Nc.1678G>ASubstitution - Missense
FAM160B1ENSG00000151553ENST00000369250p.D560Nc.1678G>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.Y220Cc.659A>GSubstitution - Missense
ARID1AENSG00000117713ENST00000324856p.D1850fs*4c.5541_5542insGInsertion - Frameshift
RGS7ENSG00000182901ENST00000407727p.L494Mc.1480C>ASubstitution - Missense
VNN1ENSG00000112299ENST00000367928p.R392Cc.1174C>TSubstitution - Missense
CR1ENSG00000203710ENST00000400960p.A786Ac.2358G>ASubstitution - coding silent
RPS6KC1ENSG00000136643ENST00000366960p.E653Ec.1959G>ASubstitution - coding silent
DTLENSG00000143476ENST00000366991p.A665Vc.1994C>TSubstitution - Missense
TENC1ENSG00000111077ENST00000314276p.R814fs*41c.2441delGDeletion - Frameshift
TENC1ENSG00000111077ENST00000314250p.R804fs*41c.2411delGDeletion - Frameshift
TENC1ENSG00000111077ENST00000314250p.D1025fs*40c.3065_3066insCInsertion - Frameshift
USH2AENSG00000042781ENST00000307340p.I5044Tc.15131T>CSubstitution - Missense
CENPFENSG00000117724ENST00000366955p.T1974fs*9c.5920_5921insAInsertion - Frameshift
ITGA7ENSG00000135424ENST00000553804p.L908Lc.2722C>TSubstitution - coding silent
ITGA7ENSG00000135424ENST00000257879p.L904Lc.2710C>TSubstitution - coding silent
ITGA7ENSG00000135424ENST00000553804p.E484Ec.1452G>ASubstitution - coding silent
ITGA7ENSG00000135424ENST00000257879p.E480Ec.1440G>ASubstitution - coding silent
ERBB3ENSG00000065361ENST00000267101p.G1273Rc.3817G>CSubstitution - Missense
ERBB3ENSG00000065361ENST00000267101p.G1273Rc.3817G>CSubstitution - Missense
C15orf27ENSG00000169758ENST00000388942p.T404Mc.1211C>TSubstitution - Missense
MAN2C1ENSG00000140400ENST00000267978p.S949Sc.2847C>TSubstitution - coding silent
ZC3H13ENSG00000123200ENST00000282007p.G1193Gc.3579G>ASubstitution - coding silent
PCDH8ENSG00000136099ENST00000377942p.T484Tc.1452G>TSubstitution - coding silent
ENST00000358674p.Y456Cc.1367A>GSubstitution - Missense
ACACBENSG00000076555ENST00000377848p.G1689Rc.5065G>ASubstitution - Missense
ACACBENSG00000076555ENST00000543201p.G355Rc.1063G>ASubstitution - Missense
TAS2R8ENSG00000121314ENST00000240615p.A112Sc.334G>TSubstitution - Missense
RPL6ENSG00000089009ENST00000202773p.?c.715-3T>AUnknown
HECTD4ENSG00000173064ENST00000377560p.A3771Tc.11311G>ASubstitution - Missense
MYCBP2ENSG00000005810ENST00000357337p.E3044Ec.9132A>GSubstitution - coding silent
MYCBP2ENSG00000005810ENST00000407578p.E3082Ec.9246A>GSubstitution - coding silent
NM_015057.1p.E3044Ec.9132A>GSubstitution - coding silent
GPC5ENSG00000179399ENST00000377067p.C504Cc.1512C>TSubstitution - coding silent
NDFIP2ENSG00000102471ENST00000218652p.A189Ac.567T>CSubstitution - coding silent
ENST00000253892p.R17Hc.50G>ASubstitution - Missense
UBE4BENSG00000130939ENST00000343090p.A444fs*52c.1329_1330insAInsertion - Frameshift
UBE4BENSG00000130939ENST00000253251p.A315fs*52c.942_943insAInsertion - Frameshift
CDC14AENSG00000079335ENST00000370124p.N177Kc.531T>ASubstitution - Missense
ZNF248ENSG00000198105ENST00000395867p.G276Vc.827G>TSubstitution - Missense
NVLENSG00000143748ENST00000281701p.I282Vc.844A>GSubstitution - Missense
MIA3ENSG00000154305ENST00000344922p.?c.4875-9A>GUnknown
ADCK3ENSG00000163050ENST00000366779p.P84Pc.252G>ASubstitution - coding silent
DNAH14ENSG00000185842ENST00000430092p.T2944fs*7c.8825delADeletion - Frameshift
ZSWIM8ENSG00000214655ENST00000398706p.P1072Sc.3214C>TSubstitution - Missense
ITIH2ENSG00000151655ENST00000358415p.A585Sc.1753G>TSubstitution - Missense
PAPSS2ENSG00000198682ENST00000361175p.A503Tc.1507G>ASubstitution - Missense
FAM35AENSG00000122376ENST00000298786p.L687*c.2060T>ASubstitution - Nonsense
PLCE1ENSG00000138193ENST00000371375p.?c.2891-8T>CUnknown
PLCE1ENSG00000138193ENST00000260766p.?c.3815-8T>CUnknown
ANKRD1ENSG00000148677ENST00000371697p.E308Ec.924G>ASubstitution - coding silent
PGAM1ENSG00000171314ENST00000334828p.P131Pc.393T>ASubstitution - coding silent
NM_032900.2p.?c.852+1G>CUnknown
TECTAENSG00000109927ENST00000392793p.E1468Gc.4403A>GSubstitution - Missense
OR10G9ENSG00000236981ENST00000375024p.L225Mc.673C>ASubstitution - Missense
OR6T1ENSG00000181499ENST00000321252p.D89fs*19c.265delGDeletion - Frameshift
CD82ENSG00000085117ENST00000227155p.A64fs*31c.186delGDeletion - Frameshift
ANO9ENSG00000185101ENST00000332826p.A440Vc.1319C>TSubstitution - Missense
ANO9ENSG00000185101ENST00000332826p.T376Mc.1127C>TSubstitution - Missense
B4GALNT4ENSG00000182272ENST00000329962p.?c.444+10G>AUnknown
NUP98ENSG00000110713ENST00000324932p.T456Mc.1367C>TSubstitution - Missense
ZNF408ENSG00000175213ENST00000311764p.G344Gc.1032A>CSubstitution - coding silent
AMBRA1ENSG00000110497ENST00000458649p.A1074Ac.3222C>ASubstitution - coding silent
OR52I1ENSG00000232268ENST00000450052p.A213Tc.637G>ASubstitution - Missense
CRY2ENSG00000121671ENST00000443527p.C218Rc.652T>CSubstitution - Missense
ENST00000263762p.C197Rc.589T>CSubstitution - Missense
NGEFENSG00000066248ENST00000264051p.R259Qc.776G>ASubstitution - Missense
ADSSENSG00000035687ENST00000366535p.G160Dc.479G>ASubstitution - Missense
SUPT6HENSG00000109111ENST00000314616p.N800Sc.2399A>GSubstitution - Missense
IRS4ENSG00000133124ENST00000372129p.R731Hc.2192G>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.Y220Cc.659A>GSubstitution - Missense
FHOD3ENSG00000134775ENST00000257209p.S336fs*138c.1000delCDeletion - Frameshift
IARS2ENSG00000067704ENST00000302637p.R731Cc.2191C>TSubstitution - Missense
APOBEC3DENSG00000243811ENST00000216099p.R144Wc.430C>TSubstitution - Missense
GPR158ENSG00000151025ENST00000376351p.R1152Cc.3454C>TSubstitution - Missense
P4HTMENSG00000178467ENST00000343546p.L416fs*6c.1240delCDeletion - Frameshift
GLUD2ENSG00000182890ENST00000328078p.R124Hc.371G>ASubstitution - Missense
TTI1ENSG00000101407ENST00000373448p.L924fs*37c.2770delCDeletion - Frameshift
MYRFENSG00000124920ENST00000265460p.H314Hc.942C>TSubstitution - coding silent
F8ENSG00000185010ENST00000360256p.N1460fs*2c.4379_4380insAInsertion - Frameshift
F8ENSG00000185010ENST00000360256p.N1460fs*2c.4379_4380insAInsertion - Frameshift
PAX6ENSG00000007372ENST00000419022p.P389fs*7c.1166delCDeletion - Frameshift
CBWD1ENSG00000172785ENST00000356521p.?c.431-1G>CUnknown
SLC6A7ENSG00000011083ENST00000230671p.A472Vc.1415C>TSubstitution - Missense
RAB3GAP2ENSG00000118873ENST00000358951p.P102Sc.304C>TSubstitution - Missense
TP53BP2ENSG00000143514ENST00000391878p.E674Kc.2020G>ASubstitution - Missense
GNB1ENSG00000078369ENST00000378609p.S74Sc.222G>ASubstitution - coding silent
ATP8A2ENSG00000132932ENST00000381655p.N967Nc.2901C>TSubstitution - coding silent
OR5AP2ENSG00000172464ENST00000302981p.R267Cc.799C>TSubstitution - Missense
GLB1L3ENSG00000166105ENST00000431683p.G453Rc.1357G>ASubstitution - Missense
ZNF554ENSG00000172006ENST00000317243p.D49Dc.147C>TSubstitution - coding silent
GABPB1ENSG00000104064ENST00000220429p.R23Hc.68G>ASubstitution - Missense
TLN2ENSG00000171914ENST00000306829p.R180Qc.539G>ASubstitution - Missense
C15orf52ENSG00000188549ENST00000559313p.R200*c.598C>TSubstitution - Nonsense
THUMPD2ENSG00000138050ENST00000260619p.R253*c.757C>TSubstitution - Nonsense
CHRNA1ENSG00000138435ENST00000261007p.D363Nc.1087G>ASubstitution - Missense
MINAENSG00000170854ENST00000360258p.S47Sc.141G>ASubstitution - coding silent
ZBTB11ENSG00000066422ENST00000312938p.A680Tc.2038G>ASubstitution - Missense
NM_032217.3p.R1752Wc.5254C>TSubstitution - Missense
ENST00000380781p.E510delEc.1529_1531delAAGDeletion - In frame
OBSCNENSG00000154358ENST00000284548p.A2575Vc.7724C>TSubstitution - Missense
NGEFENSG00000066248ENST00000264051p.R259Qc.776G>ASubstitution - Missense
ZDHHC14ENSG00000175048ENST00000359775p.Y211fs*10c.625delTDeletion - Frameshift
PLXNA4ENSG00000221866ENST00000378539p.R420Cc.1258C>TSubstitution - Missense
CCAR2ENSG00000158941ENST00000389279p.P427Lc.1280C>TSubstitution - Missense
MEF2CENSG00000081189ENST00000424173p.I118Nc.353T>ASubstitution - Missense
DGKIENSG00000157680ENST00000288490p.R791Cc.2371C>TSubstitution - Missense
ENST00000417249p.R739Wc.2215C>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.R420Cc.1258C>TSubstitution - Missense
TTKENSG00000112742ENST00000369798p.K857fs?c.2565delADeletion - Frameshift
FRRS1ENSG00000156869ENST00000287474p.T124fs*4c.370_371insAInsertion - Frameshift
ART1ENSG00000129744ENST00000250693p.F246fs*6c.729delCDeletion - Frameshift
NUCB2ENSG00000070081ENST00000529010p.K400fs*15c.1193delADeletion - Frameshift
TM9SF1ENSG00000100926ENST00000261789p.P302fs*50c.905delCDeletion - Frameshift
TTNENSG00000155657ENST00000342992p.G8523Vc.25568G>TSubstitution - Missense
ACVR2AENSG00000121989ENST00000241416p.D96fs*54c.278delADeletion - Frameshift
SCN11AENSG00000168356ENST00000302328p.K491fs*5c.1472delADeletion - Frameshift
CHGBENSG00000089199ENST00000378961p.S46Sc.138G>ASubstitution - coding silent
SLC4A11ENSG00000088836ENST00000380059p.F111fs*32c.333delTDeletion - Frameshift
ENSG00000172901ENST00000357872p.V176Mc.526G>ASubstitution - Missense
RADILENSG00000157927ENST00000399583p.T274Mc.821C>TSubstitution - Missense
USP42ENSG00000106346ENST00000306177p.K1236fs*>81c.3700delADeletion - Frameshift
XM_374396.2p.K1336fs*79c.4000delADeletion - Frameshift
TMEM168ENSG00000146802ENST00000312814p.A78Tc.232G>ASubstitution - Missense
DDR1ENSG00000204580ENST00000376575p.T531fs*122c.1584delCDeletion - Frameshift
THBS4ENSG00000113296ENST00000350881p.T789Tc.2367C>TSubstitution - coding silent
SETXENSG00000107290ENST00000224140p.F1748fs*3c.5243delTDeletion - Frameshift
PCK1ENSG00000124253ENST00000319441p.E375Dc.1125G>TSubstitution - Missense
CA1ENSG00000133742ENST00000523953p.L186Fc.556C>TSubstitution - Missense
GLIPR1L1ENSG00000173401ENST00000312442p.?c.521+1G>AUnknown


COSMIC

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