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CCRF-CEM - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

3238 mutations reported
1089 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
GLI2ENSG00000074047ENST00000361492p.P51Pc.153G>ASubstitution - coding silent
PXDNLENSG00000147485ENST00000356297p.A144Tc.430G>ASubstitution - Missense
PXDNLENSG00000147485ENST00000356297p.A945Tc.2833G>ASubstitution - Missense
TMPRSS11AENSG00000187054ENST00000334830p.K48fs*11c.143delADeletion - Frameshift
EVLENSG00000196405ENST00000392920p.R330Wc.988C>TSubstitution - Missense
NUP160ENSG00000030066ENST00000378460p.R284Hc.851G>ASubstitution - Missense
GAL3ST1ENSG00000128242ENST00000338911p.R288Qc.863G>ASubstitution - Missense
PTPRHENSG00000080031ENST00000376350p.V597Ic.1789G>ASubstitution - Missense
KRT10ENSG00000186395ENST00000269576p.G120Gc.360C>TSubstitution - coding silent
CCDC151ENSG00000198003ENST00000356392p.V229Mc.685G>ASubstitution - Missense
AP3B1ENSG00000132842ENST00000255194p.K923fs*4c.2769delADeletion - Frameshift
SLC26A5ENSG00000170615ENST00000306312p.I57fs*1c.169delADeletion - Frameshift
CPA4ENSG00000128510ENST00000222482p.T241Tc.723G>ASubstitution - coding silent
XRCC2ENSG00000196584ENST00000359321p.R258Hc.773G>ASubstitution - Missense
XRCC5ENSG00000079246ENST00000392133p.R643Wc.1927C>TSubstitution - Missense
FHOD3ENSG00000134775ENST00000257209p.S336fs*138c.1000delCDeletion - Frameshift
FBXW7ENSG00000109670ENST00000281708p.R465Cc.1393C>TSubstitution - Missense
ZNF75AENSG00000162086ENST00000574298p.R285Qc.854G>ASubstitution - Missense
XAB2ENSG00000076924ENST00000358368p.A77Ac.231G>ASubstitution - coding silent
DTNAENSG00000134769ENST00000444659p.R494Wc.1480C>TSubstitution - Missense
BPIENSG00000101425ENST00000262865p.R198Qc.593G>ASubstitution - Missense
MED14ENSG00000180182ENST00000324817p.A1346Tc.4036G>ASubstitution - Missense
NFATC2ENSG00000101096ENST00000396009p.R754Wc.2260C>TSubstitution - Missense
COBLENSG00000106078ENST00000265136p.R300Cc.898C>TSubstitution - Missense
HIVEP1ENSG00000095951ENST00000379388p.P2489Lc.7466C>TSubstitution - Missense
SLC45A1ENSG00000162426ENST00000289877p.R267*c.799C>TSubstitution - Nonsense
TP53ENSG00000141510ENST00000413465p.R248Qc.743G>ASubstitution - Missense
ENST00000414315p.R43Hc.128G>ASubstitution - Missense
ENST00000545858p.R82Hc.245G>ASubstitution - Missense
MLH1ENSG00000076242ENST00000231790p.?c.790+1G>AUnknown
KMT2DENSG00000167548ENST00000301067p.R2519Qc.7556G>ASubstitution - Missense
ANKRD6ENSG00000135299ENST00000339746p.R183Cc.547C>TSubstitution - Missense
PNPLA6ENSG00000032444ENST00000221249p.R514Hc.1541G>ASubstitution - Missense
RPRD1AENSG00000141425ENST00000357384p.A231Ac.693G>ASubstitution - coding silent
FLT3ENSG00000122025ENST00000241453p.A627Tc.1879G>ASubstitution - Missense
FBXW7ENSG00000109670ENST00000281708p.R465Cc.1393C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R175Hc.524G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
CACNA1SENSG00000081248ENST00000362061p.R988Hc.2963G>ASubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.A2698Vc.8093C>TSubstitution - Missense
YBX1ENSG00000065978ENST00000321358p.R147Hc.440G>ASubstitution - Missense
FGGYENSG00000172456ENST00000303721p.V140fs*1c.412delGDeletion - Frameshift
ZNF365ENSG00000138311ENST00000395254p.K399fs*6c.1189delADeletion - Frameshift
STAMBPL1ENSG00000138134ENST00000371924p.K405fs*21c.1207delADeletion - Frameshift
USP5ENSG00000111667ENST00000389231p.R432Wc.1294C>TSubstitution - Missense
NM_152233.1p.N376Kc.1128T>ASubstitution - Missense
GABRA6ENSG00000145863ENST00000274545p.F163Vc.487T>GSubstitution - Missense
FAM160A2ENSG00000051009ENST00000265978p.R18Hc.53G>ASubstitution - Missense
KIFC3ENSG00000140859ENST00000379655p.R680Rc.2040C>TSubstitution - coding silent
ENST00000349637p.T2311Mc.6932C>TSubstitution - Missense
PAK4ENSG00000130669ENST00000358301p.R252Qc.755G>ASubstitution - Missense
TRIM71ENSG00000206557ENST00000383763p.R496Hc.1487G>ASubstitution - Missense
ZC3H13ENSG00000123200ENST00000282007p.R493Hc.1478G>ASubstitution - Missense
TRAM1L1ENSG00000174599ENST00000310754p.V269Ic.805G>ASubstitution - Missense
ADCY7ENSG00000121281ENST00000394697p.A493fs*14c.1472delGDeletion - Frameshift
VPS13AENSG00000197969ENST00000376634p.K372fs*2c.1108delADeletion - Frameshift
CCNJENSG00000107443ENST00000265992p.R61Cc.181C>TSubstitution - Missense
CTHENSG00000116761ENST00000370938p.R265*c.793C>TSubstitution - Nonsense
PLXNB3ENSG00000198753ENST00000361971p.V624Ic.1870G>ASubstitution - Missense
PLXNA3ENSG00000130827ENST00000369682p.T1843Mc.5528C>TSubstitution - Missense
KIF4AENSG00000090889ENST00000374403p.R722Wc.2164C>TSubstitution - Missense
AKAP8LENSG00000011243ENST00000397410p.V133Ic.397G>ASubstitution - Missense
FBXW7ENSG00000109670ENST00000296555p.R347Cc.1039C>TSubstitution - Missense
DLL1ENSG00000198719ENST00000366756p.P385Pc.1155C>TSubstitution - coding silent
PODXL2ENSG00000114631ENST00000342480p.S286Sc.858C>TSubstitution - coding silent
TMEM171ENSG00000157111ENST00000287773p.D98Nc.292G>ASubstitution - Missense
TMEM171ENSG00000157111ENST00000287773p.N146Nc.438C>TSubstitution - coding silent
SEMA5AENSG00000112902ENST00000382496p.G125Gc.375C>TSubstitution - coding silent
SSFA2ENSG00000138434ENST00000320370p.G886Rc.2656G>ASubstitution - Missense
LRRFIP1ENSG00000124831ENST00000392000p.V585Ic.1753G>ASubstitution - Missense
NM_206943.1p.V308Mc.922G>ASubstitution - Missense
CYP1A1ENSG00000140465ENST00000395048p.R77Qc.230G>ASubstitution - Missense
PEAK1ENSG00000173517ENST00000312493p.A1341Vc.4022C>TSubstitution - Missense
PEAK1ENSG00000173517ENST00000312493p.A1341Vc.4022C>TSubstitution - Missense
ENST00000293813p.D134Nc.400G>ASubstitution - Missense
RBMXL2ENSG00000170748ENST00000306904p.R241Hc.722G>ASubstitution - Missense
RBM25ENSG00000119707ENST00000261973p.R9Hc.26G>ASubstitution - Missense
TRIM32ENSG00000119401ENST00000450136p.R271Qc.812G>ASubstitution - Missense
IQGAP3ENSG00000183856ENST00000361170p.R1438Wc.4312C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.G1203Rc.3607G>ASubstitution - Missense
CWF19L2ENSG00000152404ENST00000282251p.R550Qc.1649G>ASubstitution - Missense
IRX5ENSG00000176842ENST00000394636p.T396Tc.1188G>ASubstitution - coding silent
ROCK1ENSG00000067900ENST00000399799p.R403Hc.1208G>ASubstitution - Missense
ZBTB20ENSG00000181722ENST00000357258p.T117Tc.351G>ASubstitution - coding silent
EIF2B5ENSG00000145191ENST00000273783p.N388Nc.1164C>TSubstitution - coding silent
PLXNA1ENSG00000114554ENST00000393409p.R1330Wc.3988C>TSubstitution - Missense
TFRCENSG00000072274ENST00000360110p.T504Mc.1511C>TSubstitution - Missense
NKAPENSG00000101882ENST00000371410p.S76Sc.228G>ASubstitution - coding silent
AGAP6ENSG00000204149ENST00000374056p.S127Ic.380G>TSubstitution - Missense
RGS6ENSG00000182732ENST00000555571p.R112Hc.335G>ASubstitution - Missense
GMEB2ENSG00000101216ENST00000370077p.A505Tc.1513G>ASubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.A347Tc.1039G>ASubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.A347Tc.1039G>ASubstitution - Missense
EGFRENSG00000146648ENST00000275493p.A1118Tc.3352G>ASubstitution - Missense
TPM2ENSG00000198467ENST00000360958p.D2Dc.6C>TSubstitution - coding silent
TPM2ENSG00000198467ENST00000378292p.D2Dc.6C>TSubstitution - coding silent
IFNAR2ENSG00000159110ENST00000382241p.G474Rc.1420G>ASubstitution - Missense
OR14I1ENSG00000189181ENST00000342623p.R81Hc.242G>ASubstitution - Missense
GPRC5BENSG00000167191ENST00000300571p.S25Sc.75G>ASubstitution - coding silent
PHF2ENSG00000197724ENST00000359246p.R94Qc.281G>ASubstitution - Missense
FAM98AENSG00000119812ENST00000238823p.P321Pc.963G>ASubstitution - coding silent
HECW2ENSG00000138411ENST00000260983p.R899*c.2695C>TSubstitution - Nonsense
MUC4ENSG00000145113ENST00000346145p.R315Wc.943C>TSubstitution - Missense
ZNF141ENSG00000131127ENST00000240499p.P226Sc.676C>TSubstitution - Missense
ENST00000542622p.V281Mc.841G>ASubstitution - Missense
NM_020416.2p.R248Wc.742C>TSubstitution - Missense
RASSF9ENSG00000198774ENST00000361228p.A302Ac.906G>ASubstitution - coding silent
EPHA8ENSG00000070886ENST00000374644p.Y125Hc.373T>CSubstitution - Missense
EXTL1ENSG00000158008ENST00000374280p.P432Hc.1295C>ASubstitution - Missense
AHDC1ENSG00000126705ENST00000247087p.G904Rc.2710G>ASubstitution - Missense
AHDC1ENSG00000126705ENST00000247087p.G292Wc.874G>TSubstitution - Missense
FGRENSG00000000938ENST00000374005p.C483Yc.1448G>ASubstitution - Missense
YTHDF2ENSG00000198492ENST00000373812p.A445Tc.1333G>ASubstitution - Missense
CAP1ENSG00000131236ENST00000372792p.E325Vc.974A>TSubstitution - Missense
MKNK1ENSG00000079277ENST00000371946p.P386Lc.1157C>TSubstitution - Missense
SLC44A5ENSG00000137968ENST00000370859p.R510*c.1528C>TSubstitution - Nonsense
BCL10ENSG00000142867ENST00000370580p.M153Vc.457A>GSubstitution - Missense
ENST00000369728p.R448Wc.1342C>TSubstitution - Missense
AP4B1ENSG00000134262ENST00000369569p.L483Pc.1448T>CSubstitution - Missense
NOTCH2ENSG00000134250ENST00000256646p.R2053Hc.6158G>ASubstitution - Missense
BNIPLENSG00000163141ENST00000368931p.R349Wc.1045C>TSubstitution - Missense
BNIPLENSG00000163141ENST00000295294p.R267Wc.799C>TSubstitution - Missense
COPAENSG00000122218ENST00000368069p.R1067Hc.3200G>ASubstitution - Missense
SLAMF6ENSG00000162739ENST00000368059p.Q134*c.400C>TSubstitution - Nonsense
DDR2ENSG00000162733ENST00000367922p.R752Cc.2254C>TSubstitution - Missense
STX6ENSG00000135823ENST00000258301p.R189Cc.565C>TSubstitution - Missense
PPP1R15BENSG00000158615ENST00000367188p.S8Lc.23C>TSubstitution - Missense
HHIPL2ENSG00000143512ENST00000343410p.R718*c.2152C>TSubstitution - Nonsense
PGBD2ENSG00000185220ENST00000329291p.Y483Hc.1447T>CSubstitution - Missense
PGBD2ENSG00000185220ENST00000355360p.Y232Hc.694T>CSubstitution - Missense
RGS6ENSG00000182732ENST00000553525p.R112Hc.335G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.G1203Rc.3607G>ASubstitution - Missense
ENST00000282251_v68p.R704Qc.2111G>ASubstitution - Missense
FBRSENSG00000156860ENST00000395073p.A93Tc.277G>ASubstitution - Missense
EHMT1ENSG00000181090ENST00000460843p.R387Hc.1160G>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.S427Sc.1281C>TSubstitution - coding silent
COL11A1ENSG00000060718ENST00000370096p.S415Sc.1245C>TSubstitution - coding silent
TNFAIP6ENSG00000123610ENST00000243347p.G36Sc.106G>ASubstitution - Missense
ENST00000288841p.V325Mc.973G>ASubstitution - Missense
DAAM1ENSG00000100592ENST00000351081p.T219Tc.657G>ASubstitution - coding silent
XM_377014.1p.Y330Yc.990C>TSubstitution - coding silent
NTRK1ENSG00000198400ENST00000524377p.P695Pc.2085G>ASubstitution - coding silent
NTRK1ENSG00000198400ENST00000392302p.P659Pc.1977G>ASubstitution - coding silent
ADCK3ENSG00000163050ENST00000366779p.R416Hc.1247G>ASubstitution - Missense
NM_020247p.R137Hc.410G>ASubstitution - Missense
ITPKBENSG00000143772ENST00000429204p.G434Rc.1300G>ASubstitution - Missense
EML2ENSG00000125746ENST00000245925p.A288Ac.864G>ASubstitution - coding silent
MAGI2ENSG00000187391ENST00000354212p.T137Tc.411G>ASubstitution - coding silent
ASPNENSG00000106819ENST00000375544p.I304fs*8c.910delADeletion - Frameshift
PCDHA2ENSG00000204969ENST00000378132p.K766fs*29c.2289delCDeletion - Frameshift
NSD1ENSG00000165671ENST00000439151p.M1531fs*43c.4585delADeletion - Frameshift
NSD1ENSG00000165671ENST00000439151p.M1531fs*43c.4585delADeletion - Frameshift
SLC22A3ENSG00000146477ENST00000275300p.R310Hc.929G>ASubstitution - Missense
ZNF133ENSG00000125846ENST00000377671p.K65fs*121c.188delADeletion - Frameshift
CECR2ENSG00000099954ENST00000262608p.R890Cc.2668C>TSubstitution - Missense
TUBGCP6ENSG00000128159ENST00000248846p.S999Sc.2997G>ASubstitution - coding silent
MCF2L2ENSG00000053524ENST00000328913p.H327Hc.981C>TSubstitution - coding silent
SNAPC2ENSG00000104976ENST00000221573p.P294fs*11c.875delCDeletion - Frameshift
MFSD9ENSG00000135953ENST00000258436p.R313Cc.937C>TSubstitution - Missense
ENST00000338282p.P1933fs*>6c.5798delCDeletion - Frameshift
DNAH3ENSG00000158486ENST00000261383p.R1401fs*3c.4201delCDeletion - Frameshift
ZNF668ENSG00000167394ENST00000394983p.Q515fs*14c.1543delCDeletion - Frameshift
TAF1CENSG00000103168ENST00000378541p.R749Rc.2247G>ASubstitution - coding silent
NCKAP5LENSG00000167566ENST00000335999p.P1311fs*>24c.3932delCDeletion - Frameshift
TMPRSS12ENSG00000186452ENST00000398458p.A180fs*2c.531delADeletion - Frameshift
GLTPD1ENSG00000224051ENST00000343938p.S4Sc.12G>ASubstitution - coding silent
DLG2ENSG00000150672ENST00000280241p.R822Wc.2464C>TSubstitution - Missense
DLG2ENSG00000150672ENST00000398309p.R783Wc.2347C>TSubstitution - Missense
PIWIL4ENSG00000134627ENST00000299001p.R6*c.16C>TSubstitution - Nonsense
USP2ENSG00000036672ENST00000525735p.R188*c.562C>TSubstitution - Nonsense
NM_018979p.R348Hc.1043G>ASubstitution - Missense
NDUFA9ENSG00000139180ENST00000266544p.R85Qc.254G>ASubstitution - Missense
KCNA1ENSG00000111262ENST00000382545p.V224Mc.670G>ASubstitution - Missense
SPP1ENSG00000118785ENST00000395080p.S239Ic.716G>TSubstitution - Missense
SMARCAD1ENSG00000163104ENST00000354268p.L995Wc.2984T>GSubstitution - Missense
ADH6ENSG00000172955ENST00000394899p.C283Yc.848G>ASubstitution - Missense
ADH6ENSG00000172955ENST00000237653p.C283Yc.848G>ASubstitution - Missense
POU4F2ENSG00000151615ENST00000281321p.R331Cc.991C>TSubstitution - Missense
ADAMTS12ENSG00000151388ENST00000504830p.R906Qc.2717G>ASubstitution - Missense
AP3B1ENSG00000132842ENST00000255194p.A88Tc.262G>ASubstitution - Missense
SNCAIPENSG00000064692ENST00000261368p.R846Wc.2536C>TSubstitution - Missense
SNCAIPENSG00000064692ENST00000379533p.R893Wc.2677C>TSubstitution - Missense
SOX30ENSG00000039600ENST00000265007p.R409Hc.1226G>ASubstitution - Missense
CLK4ENSG00000113240ENST00000316308p.I177Lc.529A>CSubstitution - Missense
KDM1BENSG00000165097ENST00000297792p.R288*c.862C>TSubstitution - Nonsense
MEP1AENSG00000112818ENST00000230588p.R653Wc.1957C>TSubstitution - Missense
MCM3ENSG00000112118ENST00000229854p.R234Qc.701G>ASubstitution - Missense
EFHC1ENSG00000096093ENST00000371068p.D447Nc.1339G>ASubstitution - Missense
POPDC3ENSG00000132429ENST00000254765p.A130Vc.389C>TSubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.C1436Sc.4306T>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.S8400Ic.25199G>TSubstitution - Missense
TMEM181ENSG00000146433ENST00000367090p.P107Lc.320C>TSubstitution - Missense
MACC1ENSG00000183742ENST00000332878p.A181Tc.541G>ASubstitution - Missense
ABCB5ENSG00000004846ENST00000443026p.T107Mc.320C>TSubstitution - Missense
GPNMBENSG00000136235ENST00000381990p.N197Kc.591C>GSubstitution - Missense
GSAPENSG00000186088ENST00000257626p.A849Vc.2546C>TSubstitution - Missense
SRRTENSG00000087087ENST00000347433p.R518Hc.1553G>ASubstitution - Missense
NUP205ENSG00000155561ENST00000285968p.P1784Sc.5350C>TSubstitution - Missense
ADAM7ENSG00000069206ENST00000175238p.R282Qc.845G>ASubstitution - Missense
APOBENSG00000084674ENST00000233242p.R45*c.133C>TSubstitution - Nonsense
OTOFENSG00000115155ENST00000402415p.R280Hc.839G>ASubstitution - Missense
TMEM178AENSG00000152154ENST00000281961p.W256*c.768G>ASubstitution - Nonsense
STON1-GTF2A1LENSG00000068781ENST00000394754p.P575Ac.1723C>GSubstitution - Missense
SPTBN1ENSG00000115306ENST00000356805p.V1860Mc.5578G>ASubstitution - Missense
USP34ENSG00000115464ENST00000398571p.S779Cc.2336C>GSubstitution - Missense
SLC4A5ENSG00000188687ENST00000394019p.R1000Wc.2998C>TSubstitution - Missense
SFTPBENSG00000168878ENST00000393822p.M109Vc.325A>GSubstitution - Missense
CDK5R2ENSG00000171450ENST00000302625p.R296Hc.887G>ASubstitution - Missense
CCDC140ENSG00000163081ENST00000295226p.R126Hc.377G>ASubstitution - Missense
IQSEC1ENSG00000144711ENST00000273221p.R566Hc.1697G>ASubstitution - Missense
IQSEC1ENSG00000144711ENST00000429247p.R552Hc.1655G>ASubstitution - Missense
IQSEC1ENSG00000144711ENST00000450726p.Q566Qc.1698G>ASubstitution - coding silent
UBE2E2ENSG00000182247ENST00000425792p.R190Wc.568C>TSubstitution - Missense
NEK10ENSG00000163491ENST00000429845p.P611Lc.1832C>TSubstitution - Missense
NEK10ENSG00000163491ENST00000357467p.P8Lc.23C>TSubstitution - Missense
CCR4ENSG00000183813ENST00000330953p.M129Ic.387G>ASubstitution - Missense
FBXL2ENSG00000153558ENST00000538181p.R302Wc.904C>TSubstitution - Missense
CCR2ENSG00000121807ENST00000445132p.Q39*c.115C>TSubstitution - Nonsense
CCR2ENSG00000121807ENST00000292301p.Q39*c.115C>TSubstitution - Nonsense
CACNA1DENSG00000157388ENST00000288139p.V1030Mc.3088G>ASubstitution - Missense
EOGTENSG00000163378ENST00000295571p.L376Pc.1127T>CSubstitution - Missense
ARL6IP5ENSG00000144746ENST00000273258p.F134Sc.401T>CSubstitution - Missense
CEP97ENSG00000182504ENST00000327230p.R570Qc.1709G>ASubstitution - Missense
GSK3BENSG00000082701ENST00000316626p.R96*c.286C>TSubstitution - Nonsense
GSK3BENSG00000082701ENST00000316626p.R96*c.286C>TSubstitution - Nonsense
PLXNA1ENSG00000114554ENST00000393409p.R1269Hc.3806G>ASubstitution - Missense
PLXND1ENSG00000004399ENST00000324093p.V1835Mc.5503G>ASubstitution - Missense
SLC35G2ENSG00000168917ENST00000446465p.R167*c.499C>TSubstitution - Nonsense
EIF4G1ENSG00000114867ENST00000319274p.A805Tc.2413G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.R4551Wc.13651C>TSubstitution - Missense
ZNF547ENSG00000152433ENST00000282282p.W251*c.753G>ASubstitution - Nonsense
CD163ENSG00000177575ENST00000359156p.R584Hc.1751G>ASubstitution - Missense
KIF21AENSG00000139116ENST00000361961p.R899*c.2695C>TSubstitution - Nonsense
PRPF40BENSG00000110844ENST00000380281p.T577Mc.1730C>TSubstitution - Missense
ORMDL2ENSG00000123353ENST00000243045p.S39Nc.116G>ASubstitution - Missense
SYT1ENSG00000067715ENST00000393240p.Y230Cc.689A>GSubstitution - Missense
NT5DC3ENSG00000111696ENST00000392876p.E412Dc.1236G>CSubstitution - Missense
GIT2ENSG00000139436ENST00000547815p.V395Mc.1183G>ASubstitution - Missense
GCN1L1ENSG00000089154ENST00000300648p.Q448*c.1342C>TSubstitution - Nonsense
HPDENSG00000158104ENST00000289004p.R353Hc.1058G>ASubstitution - Missense
NCOR2ENSG00000196498ENST00000405201p.E1328Kc.3982G>ASubstitution - Missense
LECT1ENSG00000136110ENST00000377962p.S89*c.266C>ASubstitution - Nonsense
ING1ENSG00000153487ENST00000333219p.R68Wc.202C>TSubstitution - Missense
ING1ENSG00000153487ENST00000338450p.R24Wc.70C>TSubstitution - Missense
REC8ENSG00000100918ENST00000311457p.P56Lc.167C>TSubstitution - Missense
AKAP6ENSG00000151320ENST00000280979p.T1874Ac.5620A>GSubstitution - Missense
KLHDC2ENSG00000165516ENST00000298307p.R366Wc.1096C>TSubstitution - Missense
SAV1ENSG00000151748ENST00000324679p.S245Lc.734C>TSubstitution - Missense
SIX4ENSG00000100625ENST00000216513p.D706Gc.2117A>GSubstitution - Missense
ESR2ENSG00000140009ENST00000554572p.G318Sc.952G>ASubstitution - Missense
ENST00000417249p.L240Vc.718C>GSubstitution - Missense
NM_004667.3p.A901Tc.2701G>ASubstitution - Missense
IGDCC4ENSG00000103742ENST00000352385p.R513Hc.1538G>ASubstitution - Missense
CORO2BENSG00000103647ENST00000566799p.R236Wc.706C>TSubstitution - Missense
IQGAP1ENSG00000140575ENST00000268182p.R847Wc.2539C>TSubstitution - Missense
FURINENSG00000140564ENST00000268171p.Q121Rc.362A>GSubstitution - Missense
BAIAP3ENSG00000007516ENST00000324385p.D344Nc.1030G>ASubstitution - Missense
ZNF205ENSG00000122386ENST00000219091p.R440Hc.1319G>ASubstitution - Missense
PPLENSG00000118898ENST00000345988p.Y305Nc.913T>ASubstitution - Missense
TMC5ENSG00000103534ENST00000396229p.G847Rc.2539G>ASubstitution - Missense
PDILTENSG00000169340ENST00000302451p.R327Wc.979C>TSubstitution - Missense
USP31ENSG00000103404ENST00000219689p.R792Qc.2375G>ASubstitution - Missense
PRKCBENSG00000166501ENST00000303531p.R465Hc.1394G>ASubstitution - Missense
PRKCBENSG00000166501ENST00000321728p.R465Hc.1394G>ASubstitution - Missense
PRR14ENSG00000156858ENST00000300835p.Q456*c.1366C>TSubstitution - Nonsense
ZDHHC1ENSG00000159714ENST00000348579p.R286Hc.857G>ASubstitution - Missense
FAM65AENSG00000039523ENST00000379312p.G225Dc.674G>ASubstitution - Missense
FAM65AENSG00000039523ENST00000042381p.G221Dc.662G>ASubstitution - Missense
SDCBPENSG00000137575ENST00000260130p.K280Tc.839A>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.R3391Cc.10171C>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.R3351Cc.10051C>TSubstitution - Missense
FER1L6ENSG00000214814ENST00000399018p.K118Mc.353A>TSubstitution - Missense
FER1L6ENSG00000214814ENST00000399018p.K118Nc.354G>TSubstitution - Missense
B4GALT1ENSG00000086062ENST00000379731p.R224Hc.671G>ASubstitution - Missense
AGTPBP1ENSG00000135049ENST00000376083p.S746Lc.2237C>TSubstitution - Missense
DAB2IPENSG00000136848ENST00000259371p.P758Lc.2273C>TSubstitution - Missense
PTRH1ENSG00000187024ENST00000419060p.C150Yc.449G>ASubstitution - Missense
CELENSG00000170835ENST00000372080p.G455Rc.1363G>ASubstitution - Missense
EGR2ENSG00000122877ENST00000242480p.R257Wc.769C>TSubstitution - Missense
MCUENSG00000156026ENST00000373053p.R113*c.337C>TSubstitution - Nonsense
CAMK2GENSG00000148660ENST00000351293p.H115Nc.343C>ASubstitution - Missense
ABCC2ENSG00000023839ENST00000370449p.R590Cc.1768C>TSubstitution - Missense
ARL3ENSG00000138175ENST00000260746p.R149Hc.446G>ASubstitution - Missense
PRLHRENSG00000119973ENST00000369169p.R255Hc.764G>ASubstitution - Missense
TACC2ENSG00000138162ENST00000369005p.A2794Vc.8381C>TSubstitution - Missense
TACC2ENSG00000138162ENST00000453444p.A2721Vc.8162C>TSubstitution - Missense
NKX6-2ENSG00000148826ENST00000368592p.R204Hc.611G>ASubstitution - Missense
VENTXENSG00000151650ENST00000325980p.R95Cc.283C>TSubstitution - Missense
SBF2ENSG00000133812ENST00000256190p.R860Qc.2579G>ASubstitution - Missense
BBOX1ENSG00000129151ENST00000263182p.T175Ic.524C>TSubstitution - Missense
CD6ENSG00000013725ENST00000313421p.G166Sc.496G>ASubstitution - Missense
DAKENSG00000149476ENST00000394900p.A77Tc.229G>ASubstitution - Missense
INTS5ENSG00000185085ENST00000330574p.R966Wc.2896C>TSubstitution - Missense
PLCB3ENSG00000149782ENST00000279230p.P112Lc.335C>TSubstitution - Missense
PFKFB2ENSG00000123836ENST00000367079p.F348fs*66c.1042delTDeletion - Frameshift
C4BPAENSG00000123838ENST00000367070p.R153Hc.458G>ASubstitution - Missense
CR1ENSG00000203710ENST00000400960p.A1129Tc.3385G>ASubstitution - Missense
IL17REENSG00000163701ENST00000383814p.R93Wc.277C>TSubstitution - Missense
IL17REENSG00000163701ENST00000454190p.R93Wc.277C>TSubstitution - Missense
CER1ENSG00000147869ENST00000380911p.V179Lc.535G>TSubstitution - Missense
ADAD2ENSG00000140955ENST00000268624p.R174Pc.521G>CSubstitution - Missense
ENST00000375089p.A841Vc.2522C>TSubstitution - Missense
XM_370630.2p.G225Gc.675G>CSubstitution - coding silent
PCED1AENSG00000132635ENST00000360652p.A183Vc.548C>TSubstitution - Missense
ZNF341ENSG00000131061ENST00000342427p.H666Yc.1996C>TSubstitution - Missense
PCNTENSG00000160299ENST00000359568p.T2584Mc.7751C>TSubstitution - Missense
CRYBB2ENSG00000244752ENST00000398215p.R189Sc.565C>ASubstitution - Missense
CCDC157ENSG00000187860ENST00000338306p.R71Hc.212G>ASubstitution - Missense
DEPDC5ENSG00000100150ENST00000535622p.V1260Mc.3778G>ASubstitution - Missense
C1QTNF6ENSG00000133466ENST00000397110p.W200*c.600G>ASubstitution - Nonsense
PRR5ENSG00000186654ENST00000432186p.R144Qc.431G>ASubstitution - Missense
WNT7BENSG00000188064ENST00000339464p.R78Hc.233G>ASubstitution - Missense
PKDREJENSG00000130943ENST00000253255p.R2234Cc.6700C>TSubstitution - Missense
MOV10L1ENSG00000073146ENST00000540615p.V584Mc.1750G>ASubstitution - Missense
CTPS2ENSG00000047230ENST00000443824p.P533Lc.1598C>TSubstitution - Missense
MED14ENSG00000180182ENST00000324817p.R1167Hc.3500G>ASubstitution - Missense
DDX3XENSG00000215301ENST00000399959p.R428Qc.1283G>ASubstitution - Missense
CFPENSG00000126759ENST00000396992p.V429Mc.1285G>ASubstitution - Missense
GATA1ENSG00000102145ENST00000376670p.R140Wc.418C>TSubstitution - Missense
ALAS2ENSG00000158578ENST00000330807p.R511Wc.1531C>TSubstitution - Missense
TAF1ENSG00000147133ENST00000276072p.G4Sc.10G>ASubstitution - Missense
TAF1ENSG00000147133ENST00000373790p.G4Sc.10G>ASubstitution - Missense
PAK3ENSG00000077264ENST00000446737p.F84Sc.251T>CSubstitution - Missense
PASD1ENSG00000166049ENST00000370357p.Y748Hc.2242T>CSubstitution - Missense
PDZD4ENSG00000067840ENST00000164640p.G279Rc.835G>ASubstitution - Missense
CNTRLENSG00000119397ENST00000373855p.E705fs*3c.2113_2114insGInsertion - Frameshift
MLKLENSG00000168404ENST00000308807p.V401Ic.1201G>ASubstitution - Missense
SLC38A8ENSG00000166558ENST00000299709p.A52Tc.154G>ASubstitution - Missense
CDT1ENSG00000167513ENST00000301019p.R228Cc.682C>TSubstitution - Missense
SLC25A35ENSG00000125434ENST00000380067p.G54Sc.160G>ASubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.A1067Vc.3200C>TSubstitution - Missense
LLGL1ENSG00000131899ENST00000316843p.R652Qc.1955G>ASubstitution - Missense
TOP3AENSG00000177302ENST00000321105p.E398Kc.1192G>ASubstitution - Missense
MPP3ENSG00000161647ENST00000398389p.Q205*c.613C>TSubstitution - Nonsense
HOXB1ENSG00000120094ENST00000239174p.R255*c.763C>TSubstitution - Nonsense
MGAT5BENSG00000167889ENST00000428789p.R164Wc.490C>TSubstitution - Missense
GAAENSG00000171298ENST00000390015p.T234Mc.701C>TSubstitution - Missense
FN3KRPENSG00000141560ENST00000269373p.R276Hc.827G>ASubstitution - Missense
MIB1ENSG00000101752ENST00000261537p.R89Hc.266G>ASubstitution - Missense
TSHZ1ENSG00000179981ENST00000322038p.L190Fc.568C>TSubstitution - Missense
FZR1ENSG00000105325ENST00000441788p.S484Fc.1451C>TSubstitution - Missense
PNPLA6ENSG00000032444ENST00000414982p.R662Hc.1985G>ASubstitution - Missense
PNPLA6ENSG00000032444ENST00000221249p.R614Hc.1841G>ASubstitution - Missense
ADAMTS10ENSG00000142303ENST00000270328p.R93Cc.277C>TSubstitution - Missense
GIPC1ENSG00000123159ENST00000393033p.G144Rc.430G>ASubstitution - Missense
SLC35E1ENSG00000127526ENST00000409648p.G175Sc.523G>ASubstitution - Missense
ENST00000248069p.G31Sc.91G>ASubstitution - Missense
SLC35E1ENSG00000127526ENST00000431408p.G19Sc.55G>ASubstitution - Missense
SLC5A5ENSG00000105641ENST00000222248p.P340Sc.1018C>TSubstitution - Missense
LRFN3ENSG00000126243ENST00000246529p.C255Yc.764G>ASubstitution - Missense
ZNF567ENSG00000189042ENST00000360729p.C367Yc.1100G>ASubstitution - Missense
PLD3ENSG00000105223ENST00000409587p.R267Wc.799C>TSubstitution - Missense
PLD3ENSG00000105223ENST00000409587p.R424Cc.1270C>TSubstitution - Missense
PVRENSG00000073008ENST00000425690p.R140*c.418C>TSubstitution - Nonsense
ZNF296ENSG00000170684ENST00000303809p.S399Rc.1197C>ASubstitution - Missense
NLRP12ENSG00000142405ENST00000324134p.Q600*c.1798C>TSubstitution - Nonsense
NLRP7ENSG00000167634ENST00000328092p.D256Vc.767A>TSubstitution - Missense
ZNF787ENSG00000142409ENST00000270459p.R113Wc.337C>TSubstitution - Missense
CLEC4EENSG00000166523ENST00000299663p.?c.489-8T>CUnknown
CEP290ENSG00000198707ENST00000552810p.A1685Ac.5055G>ASubstitution - coding silent
RASSF9ENSG00000198774ENST00000361228p.S261Sc.783C>TSubstitution - coding silent
NM_006313.1p.K754fs*4c.2257delADeletion - Frameshift
XPOTENSG00000184575ENST00000332707p.R778Wc.2332C>TSubstitution - Missense
PRIM1ENSG00000198056ENST00000338193p.I185Mc.555A>GSubstitution - Missense
GPR182ENSG00000166856ENST00000300098p.E31Kc.91G>ASubstitution - Missense
CADM3ENSG00000162706ENST00000368124p.S227Sc.681G>ASubstitution - coding silent
MYBPC3ENSG00000134571ENST00000399249p.T498Tc.1494C>GSubstitution - coding silent
DGKZENSG00000149091ENST00000454345p.?c.2983-5C>TUnknown
DGKZENSG00000149091ENST00000421244p.?c.2419-5C>TUnknown
DGKZENSG00000149091ENST00000395574p.?c.2317-5C>TUnknown
CHRM4ENSG00000180720ENST00000433765p.T355Ac.1063A>GSubstitution - Missense
CHRM4ENSG00000180720ENST00000433765p.P284Pc.852G>ASubstitution - coding silent
STIM1ENSG00000167323ENST00000300737p.R500Wc.1498C>TSubstitution - Missense
RRM1ENSG00000167325ENST00000300738p.R324Hc.971G>ASubstitution - Missense
ANO9ENSG00000185101ENST00000332826p.R516fs*14c.1546delCDeletion - Frameshift
TSPAN18ENSG00000157570ENST00000340160p.G23Gc.69C>TSubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.T3489Mc.10466C>TSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.T4237Mc.12710C>TSubstitution - Missense
ENST00000349637p.A1116Vc.3347C>TSubstitution - Missense
GRAMD1BENSG00000023171ENST00000529750p.M705Tc.2114T>CSubstitution - Missense
OR10G4ENSG00000254737ENST00000320891p.L153Lc.459G>ASubstitution - coding silent
TBRG1ENSG00000154144ENST00000441174p.G335Gc.1005G>ASubstitution - coding silent
MMS19ENSG00000155229ENST00000438925p.F420Lc.1260C>GSubstitution - Missense
MICAL2ENSG00000133816ENST00000256194p.T24Tc.72G>ASubstitution - coding silent
LDB3ENSG00000122367ENST00000429277p.P109Pc.327C>TSubstitution - coding silent
CDC42BPAENSG00000143776ENST00000366769p.S1706Ic.5117G>TSubstitution - Missense
ENST00000366719p.R83Wc.247C>TSubstitution - Missense
GUK1ENSG00000143774ENST00000366716p.G30Sc.88G>ASubstitution - Missense
DISP1ENSG00000154309ENST00000284476p.C1407Cc.4221C>TSubstitution - coding silent
TLR5ENSG00000187554ENST00000366881p.R459Cc.1375C>TSubstitution - Missense
TGFB2ENSG00000092969ENST00000366930p.F201Fc.603C>TSubstitution - coding silent
RAP1GAPENSG00000076864ENST00000374765p.A555Tc.1663G>ASubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.R3090Hc.9269G>ASubstitution - Missense
HSPG2ENSG00000142798ENST00000453796p.A113Vc.338C>TSubstitution - Missense
SYT15ENSG00000204176ENST00000374321p.P208Pc.624G>ASubstitution - coding silent
SYT15ENSG00000204176ENST00000374325p.P260Pc.780G>ASubstitution - coding silent
UBE4BENSG00000130939ENST00000343090p.P291Lc.872C>TSubstitution - Missense
UBE4BENSG00000130939ENST00000253251p.L1151Lc.3451C>TSubstitution - coding silent
DZIP1ENSG00000134874ENST00000361396p.A50Vc.149C>TSubstitution - Missense
FARP1ENSG00000152767ENST00000376586p.R275Cc.823C>TSubstitution - Missense
RNF219ENSG00000152193ENST00000282003p.?c.208+9C>AUnknown
LMO7ENSG00000136153ENST00000341547p.K332Ec.994A>GSubstitution - Missense
LMO7ENSG00000136153ENST00000357063p.K332Ec.994A>GSubstitution - Missense
HECTD4ENSG00000173064ENST00000377560p.S3546Nc.10637G>ASubstitution - Missense
HECTD4ENSG00000173064ENST00000377560p.T2956Mc.8867C>TSubstitution - Missense
CMKLR1ENSG00000174600ENST00000312143p.N336Nc.1008T>CSubstitution - coding silent
TAS2R8ENSG00000121314ENST00000240615p.F245Sc.734T>CSubstitution - Missense
DLEU7ENSG00000186047ENST00000504404p.Q168*c.502C>TSubstitution - Nonsense
PCDH8ENSG00000136099ENST00000377942p.A132Tc.394G>ASubstitution - Missense
PCDH17ENSG00000118946ENST00000377918p.E733Kc.2197G>ASubstitution - Missense
MTRF1ENSG00000120662ENST00000379477p.R103Qc.308G>ASubstitution - Missense
SERP2ENSG00000151778ENST00000379179p.Q59*c.175C>TSubstitution - Nonsense
C15orf27ENSG00000169758ENST00000388942p.R277Rc.831C>TSubstitution - coding silent
STOML1ENSG00000067221ENST00000316900p.R395Gc.1183A>GSubstitution - Missense
STAT2ENSG00000170581ENST00000314128p.A302Tc.904G>ASubstitution - Missense
MIPENSG00000135517ENST00000257979p.L32Lc.94C>TSubstitution - coding silent
PKMENSG00000067225ENST00000319622p.A438Ac.1314T>CSubstitution - coding silent
PKMENSG00000067225ENST00000335181p.A438Ac.1314T>CSubstitution - coding silent
OR9K2ENSG00000170605ENST00000305377p.K252Nc.756G>TSubstitution - Missense
PA2G4ENSG00000170515ENST00000303305p.?c.89-2A>GUnknown
HOXC11ENSG00000123388ENST00000546378p.V255Mc.763G>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.Q492Pc.1475A>CSubstitution - Missense
DNMBPENSG00000107554ENST00000324109p.R1326Hc.3977G>ASubstitution - Missense
ENST00000393462p.A898fs*63c.2692_2693insGInsertion - Frameshift
WDR11ENSG00000120008ENST00000263461p.?c.2229-9T>CUnknown
TACC2ENSG00000138162ENST00000369005p.L2052Lc.6156G>ASubstitution - coding silent
TACC2ENSG00000138162ENST00000453444p.L2056Lc.6168G>ASubstitution - coding silent
HPSE2ENSG00000172987ENST00000370546p.?c.1613+6T>CUnknown
ENTPD7ENSG00000198018ENST00000370489p.V21Ac.62T>CSubstitution - Missense
CUTCENSG00000119929ENST00000370476p.?c.440-1G>AUnknown
PRLHRENSG00000119973ENST00000369169p.R170Hc.509G>ASubstitution - Missense
NRAPENSG00000197893ENST00000359988p.?c.361-4G>AUnknown
NALCNENSG00000102452ENST00000376196p.I178Ic.534A>TSubstitution - coding silent
APAF1ENSG00000120868ENST00000551964p.D1096Nc.3286G>ASubstitution - Missense
PZPENSG00000126838ENST00000261336p.S929Sc.2787A>GSubstitution - coding silent
PZPENSG00000126838ENST00000381997p.S715Sc.2145A>GSubstitution - coding silent
MYEOVENSG00000172927ENST00000308946p.I5Ic.15C>TSubstitution - coding silent
CCND1ENSG00000110092ENST00000227507p.R260Hc.779G>ASubstitution - Missense
CCND1ENSG00000110092ENST00000227507p.R260Hc.779G>ASubstitution - Missense
SSH3ENSG00000172830ENST00000308127p.R256Wc.766C>TSubstitution - Missense
TBC1D10CENSG00000175463ENST00000312390p.L420Pc.1259T>CSubstitution - Missense
CARNS1ENSG00000172508ENST00000445895p.H648Rc.1943A>GSubstitution - Missense
TPP1ENSG00000166340ENST00000299427p.R266Qc.797G>ASubstitution - Missense
EEF1GENSG00000254772ENST00000329251p.A21Tc.61G>ASubstitution - Missense
GANABENSG00000089597ENST00000356638p.L729Pc.2186T>CSubstitution - Missense
CCDC86ENSG00000110104ENST00000227520p.S266Sc.798G>ASubstitution - coding silent
MDP1ENSG00000213920ENST00000288087p.V131Ic.391G>ASubstitution - Missense
TEP1ENSG00000129566ENST00000262715p.G1304Ec.3911G>ASubstitution - Missense
BTBD6ENSG00000184887ENST00000392554p.P126Pc.378C>TSubstitution - coding silent
PAOXENSG00000148832ENST00000278060p.Y158Hc.472T>CSubstitution - Missense
PAOXENSG00000148832ENST00000357296p.Y158Hc.472T>CSubstitution - Missense
TRAF3ENSG00000131323ENST00000560371p.R236Hc.707G>ASubstitution - Missense
CDC42BPBENSG00000198752ENST00000361246p.N1219Yc.3655A>TSubstitution - Missense
TRMT61AENSG00000166166ENST00000389749p.R32Hc.95G>ASubstitution - Missense
TRMT61AENSG00000166166ENST00000389749p.R223Hc.668G>ASubstitution - Missense
LRRC27ENSG00000148814ENST00000392638p.P313Sc.937C>TSubstitution - Missense
PWWP2BENSG00000171813ENST00000305233p.D288Dc.864C>TSubstitution - coding silent
FANK1ENSG00000203780ENST00000368693p.A117Dc.350C>ASubstitution - Missense
CAMK1DENSG00000183049ENST00000378847p.A368Vc.1103C>TSubstitution - Missense
EBF3ENSG00000108001ENST00000368648p.R395Rc.1185A>GSubstitution - coding silent
ENST00000361282p.?c.1219-6T>CUnknown
EDRF1ENSG00000107938ENST00000356792p.S879fs*46c.2629delADeletion - Frameshift
EDRF1ENSG00000107938ENST00000337623p.S845fs*46c.2527delADeletion - Frameshift
POLGENSG00000140521ENST00000268124p.P829Pc.2487C>TSubstitution - coding silent
AKAP13ENSG00000170776ENST00000394518p.D1181Gc.3542A>GSubstitution - Missense
AKAP13ENSG00000170776ENST00000394518p.S1513Nc.4538G>ASubstitution - Missense
AENENSG00000181026ENST00000379231p.R157Hc.470G>ASubstitution - Missense
GOLGA6L10ENSG00000205281ENST00000439287p.N471Sc.1412A>GSubstitution - Missense
KRT83ENSG00000170523ENST00000293670p.R38Hc.113G>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.S4695Gc.14083A>GSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.S4425Gc.13273A>GSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.?c.4972+7C>TUnknown
PIK3C2GENSG00000139144ENST00000433979p.T1257Ic.3770C>TSubstitution - Missense
PIK3C2GENSG00000139144ENST00000433979p.T1257Ic.3770C>TSubstitution - Missense
AEBP2ENSG00000139154ENST00000398864p.K444Qc.1330A>CSubstitution - Missense
DCP1BENSG00000151065ENST00000280665p.G345Dc.1034G>ASubstitution - Missense
GOLGA3ENSG00000090615ENST00000545875p.S476Sc.1428G>ASubstitution - coding silent
ZNF140ENSG00000196387ENST00000355557p.T324Ic.971C>TSubstitution - Missense
LMO3ENSG00000048540ENST00000354662p.Y131Yc.393C>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.K99Rc.296A>GSubstitution - Missense
MAP10ENSG00000212916ENST00000418460p.R124Gc.370C>GSubstitution - Missense
ACTA1ENSG00000143632ENST00000366684p.A9Sc.25G>TSubstitution - Missense
C1orf198ENSG00000119280ENST00000366663p.E151Ec.453G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.A5858Ac.17574G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.?c.25639+5G>AUnknown
SU_OBSCN.1p.?c.25249+5G>AUnknown
MMP3ENSG00000149968ENST00000299855p.A216Vc.647C>TSubstitution - Missense
VPS11ENSG00000160695ENST00000300793p.R791Wc.2371C>TSubstitution - Missense
MCAMENSG00000076706ENST00000264036p.E29Kc.85G>ASubstitution - Missense
NM_000926.2p.G188fs*23c.563delGDeletion - Frameshift
MUC6ENSG00000184956ENST00000421673p.T1945Kc.5834C>ASubstitution - Missense
BACE1ENSG00000186318ENST00000313005p.R484Cc.1450C>TSubstitution - Missense
KMT2AENSG00000118058ENST00000534358p.K381fs*19c.1137delADeletion - Frameshift
NM_005933.1p.K381fs*19c.1137delADeletion - Frameshift
NCAM1ENSG00000149294ENST00000316851p.I78Ic.234C>TSubstitution - coding silent
ENST00000316851_v65p.I78Ic.234C>TSubstitution - coding silent
NCAM1ENSG00000149294ENST00000401611p.I87Ic.261C>TSubstitution - coding silent
PTPRBENSG00000127329ENST00000334414p.?c.2578+5G>CUnknown
PTPRBENSG00000127329ENST00000261266p.?c.1924+5G>CUnknown
NM_002837.2p.?c.1924+5G>CUnknown
PIANPENSG00000139200ENST00000540656p.?c.523+8G>TUnknown
CHD4ENSG00000111642ENST00000357008p.R279Hc.836G>ASubstitution - Missense
CHD4ENSG00000111642ENST00000357008p.R279Hc.836G>ASubstitution - Missense
CHD4ENSG00000111642ENST00000309577p.R279Hc.836G>ASubstitution - Missense
TDRD5ENSG00000162782ENST00000367614p.A70Vc.209C>TSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.S1280Sc.3840G>ASubstitution - coding silent
CEP350ENSG00000135837ENST00000367607p.S1280Sc.3840G>ASubstitution - coding silent
OTOGENSG00000188162ENST00000399397p.G580Sc.1738G>ASubstitution - Missense
OTOGENSG00000188162ENST00000399397p.L2620Lc.7858C>TSubstitution - coding silent
IFITM10ENSG00000244242ENST00000340134p.E32Kc.94G>ASubstitution - Missense
TPH1ENSG00000129167ENST00000250018p.R207Qc.620G>ASubstitution - Missense
MOB2ENSG00000182208ENST00000329957p.G241Rc.721G>ASubstitution - Missense
SNX19ENSG00000120451ENST00000265909p.A647Tc.1939G>ASubstitution - Missense
JAM3ENSG00000166086ENST00000299106p.?c.848-7T>CUnknown
FCGR3AENSG00000203747ENST00000367969p.F263Sc.788T>CSubstitution - Missense
OLFML2BENSG00000162745ENST00000294794p.V37Ac.110T>CSubstitution - Missense
DDR2ENSG00000162733ENST00000367922p.V250Mc.748G>ASubstitution - Missense
IGSF9ENSG00000085552ENST00000361509p.A595Tc.1783G>ASubstitution - Missense
IGSF9ENSG00000085552ENST00000361509p.A388Tc.1162G>ASubstitution - Missense
GOLGA8IENSG00000153666ENST00000450802p.R169Hc.506G>ASubstitution - Missense
NM_004667.3p.S2781Sc.8343C>TSubstitution - coding silent
CSMD2ENSG00000121904ENST00000373381p.P2485Pc.7455C>TSubstitution - coding silent
PTPRUENSG00000060656ENST00000345512p.A187Tc.559G>ASubstitution - Missense
FABP3ENSG00000121769ENST00000373713p.D3Ec.9C>GSubstitution - Missense
SPOCD1ENSG00000134668ENST00000360482p.L756Pc.2267T>CSubstitution - Missense
TMEM39BENSG00000121775ENST00000336294p.R42Hc.125G>ASubstitution - Missense
IQCCENSG00000160051ENST00000291358p.R184Cc.550C>TSubstitution - Missense
MRPS14ENSG00000120333ENST00000476371p.A115Vc.344C>TSubstitution - Missense
STARD13ENSG00000133121ENST00000336934p.?c.1922+5G>AUnknown
SLC7A1ENSG00000139514ENST00000380752p.S213Sc.639G>ASubstitution - coding silent
NDUFA9ENSG00000139180ENST00000266544p.I226Tc.677T>CSubstitution - Missense
COL2A1ENSG00000139219ENST00000380518p.P293Tc.877C>ASubstitution - Missense
PRICKLE1ENSG00000139174ENST00000345127p.H178Hc.534C>TSubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000389420p.A804Tc.2410G>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.A804Tc.2410G>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.T782Mc.2345C>TSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.T782Mc.2345C>TSubstitution - Missense
SLC38A2ENSG00000134294ENST00000256689p.V275Mc.823G>ASubstitution - Missense
STAB2ENSG00000136011ENST00000388887p.R69Qc.206G>ASubstitution - Missense
STAB2ENSG00000136011ENST00000388887p.G921Sc.2761G>ASubstitution - Missense
TXNRD1ENSG00000198431ENST00000378070p.L477Lc.1431G>ASubstitution - coding silent
TXNRD1ENSG00000198431ENST00000503506p.L378Lc.1134G>ASubstitution - coding silent
AMOTL1ENSG00000166025ENST00000433060p.S406Pc.1216T>CSubstitution - Missense
ZNF143ENSG00000166478ENST00000396602p.A52Tc.154G>ASubstitution - Missense
SORCS1ENSG00000108018ENST00000344440p.R143Qc.428G>ASubstitution - Missense
SORCS1ENSG00000108018ENST00000263054p.R143Qc.428G>ASubstitution - Missense
IPO7ENSG00000205339ENST00000379719p.I6Vc.16A>GSubstitution - Missense
PPRC1ENSG00000148840ENST00000278070p.R1278Hc.3833G>ASubstitution - Missense
GBF1ENSG00000107862ENST00000369983p.M1119fs*27c.3349_3350insAInsertion - Frameshift
ENST00000336486p.H605Hc.1815C>TSubstitution - coding silent
ZSWIM5ENSG00000162415ENST00000359600p.I978Vc.2932A>GSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.R2312Hc.6935G>ASubstitution - Missense
SZT2ENSG00000198198ENST00000562955p.R3154Hc.9461G>ASubstitution - Missense
CGP_EPHA10.1p.A213Tc.637G>ASubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.R5720Rc.17160C>TSubstitution - coding silent
PPIEENSG00000084072ENST00000324379p.A295Tc.883G>ASubstitution - Missense
TIGD3ENSG00000173825ENST00000309880p.G78Ac.233G>CSubstitution - Missense
PCNXL3ENSG00000197136ENST00000355703p.R291Qc.872G>ASubstitution - Missense
PCNXL3ENSG00000197136ENST00000355703p.R1702Hc.5105G>ASubstitution - Missense
ATG2AENSG00000110046ENST00000377264p.G410Gc.1230C>TSubstitution - coding silent
CCKBRENSG00000110148ENST00000525462p.A288Vc.863C>TSubstitution - Missense
OTUB1ENSG00000167770ENST00000428192p.Y266Yc.798C>TSubstitution - coding silent
SMPD1ENSG00000166311ENST00000299397p.H467Hc.1401C>TSubstitution - coding silent
NM_139155.1p.?c.1757+3G>AUnknown
UNC5BENSG00000107731ENST00000335350p.R324Rc.972C>TSubstitution - coding silent
ENST00000398860p.A1396Vc.4187C>TSubstitution - Missense
ENST00000398860p.R2961Hc.8882G>ASubstitution - Missense
DDIT4ENSG00000168209ENST00000307365p.A164Tc.490G>ASubstitution - Missense
TET1ENSG00000138336ENST00000373644p.Q1245Rc.3734A>GSubstitution - Missense
ARID5BENSG00000150347ENST00000279873p.P914Pc.2742G>ASubstitution - coding silent
ASB13ENSG00000196372ENST00000357700p.V156Ic.466G>ASubstitution - Missense
SLC16A9ENSG00000165449ENST00000395347p.A139Ac.417G>ASubstitution - coding silent
ANK3ENSG00000151150ENST00000280772p.T765Tc.2295G>ASubstitution - coding silent
PRKG1ENSG00000185532ENST00000373980p.K41Rc.122A>GSubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.R1100Kc.3299G>ASubstitution - Missense
ENST00000417177p.R1105Kc.3314G>ASubstitution - Missense
C10orf71ENSG00000177354ENST00000374144p.P1059Pc.3177C>TSubstitution - coding silent
UNKLENSG00000059145ENST00000397462p.P488Pc.1464G>ASubstitution - coding silent
ARHGAP22ENSG00000128805ENST00000249601p.E96fs*62c.285delCDeletion - Frameshift
TXNDC11ENSG00000153066ENST00000283033p.G451Rc.1351G>ASubstitution - Missense
TXNDC11ENSG00000153066ENST00000356957p.G478Rc.1432G>ASubstitution - Missense
ZC3H7AENSG00000122299ENST00000355758p.W59Rc.175T>CSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.?c.3744+8C>TUnknown
SHISA9ENSG00000237515ENST00000558583p.?c.814+10G>AUnknown
NR2F2ENSG00000185551ENST00000394166p.T114Tc.342G>ASubstitution - coding silent
SYNMENSG00000182253ENST00000336292p.R472Qc.1415G>ASubstitution - Missense
SEMA4BENSG00000185033ENST00000332496p.R823Wc.2467C>TSubstitution - Missense
LTBP2ENSG00000119681ENST00000261978p.D1375Nc.4123G>ASubstitution - Missense
FLVCR2ENSG00000119686ENST00000238667p.P234Lc.701C>TSubstitution - Missense
VASH1ENSG00000071246ENST00000167106p.L207Rc.620T>GSubstitution - Missense
PLEKHD1ENSG00000175985ENST00000322564p.?c.906+9G>AUnknown
HEATR4ENSG00000187105ENST00000553558p.L417Lc.1251G>ASubstitution - coding silent
HEATR4ENSG00000187105ENST00000334988p.L370Lc.1110G>ASubstitution - coding silent
WACENSG00000095787ENST00000428935p.D166Nc.496G>ASubstitution - Missense
APBB1IPENSG00000077420ENST00000376236p.R415Lc.1244G>TSubstitution - Missense
CUBNENSG00000107611ENST00000377833p.G298Gc.894C>TSubstitution - coding silent
ST8SIA6ENSG00000148488ENST00000377602p.T323Tc.969C>TSubstitution - coding silent
ACSM5ENSG00000183549ENST00000331849p.D331Dc.993T>CSubstitution - coding silent
NOMO3ENSG00000103226ENST00000399336p.A599Tc.1795G>ASubstitution - Missense
ZNF281ENSG00000162702ENST00000367353p.S382Lc.1145C>TSubstitution - Missense
RRN3ENSG00000085721ENST00000198767p.G165Gc.495C>TSubstitution - coding silent
UBR4ENSG00000127481ENST00000375254p.M154Ic.462G>ASubstitution - Missense
PIAS3ENSG00000131788ENST00000393045p.A584Tc.1750G>ASubstitution - Missense
CHIAENSG00000134216ENST00000430615p.N305Nc.915C>TSubstitution - coding silent
WNT2BENSG00000134245ENST00000369686p.?c.125+5A>GUnknown
PPM1JENSG00000155367ENST00000309276p.A123Tc.367G>ASubstitution - Missense
CLCC1ENSG00000121940ENST00000369971p.S36Sc.108A>GSubstitution - coding silent
ABTB2ENSG00000166016ENST00000435224p.?c.883+7G>AUnknown
ABTB2ENSG00000166016ENST00000298992p.?c.325+7G>AUnknown
PAX6ENSG00000007372ENST00000419022p.P319Lc.956C>TSubstitution - Missense
C11orf52ENSG00000149300ENST00000278601p.H51Hc.153T>CSubstitution - coding silent
NAV2ENSG00000166833ENST00000360655p.R1535Wc.4603C>TSubstitution - Missense
MUC2ENSG00000198788ENST00000441003p.G2317Ac.6950G>CSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.T1945Kc.5834C>ASubstitution - Missense
PDE4BENSG00000184588ENST00000371045p.T535Tc.1605G>ASubstitution - coding silent
ANGPTL3ENSG00000132855ENST00000371129p.K425Kc.1275G>ASubstitution - coding silent
ENST00000371233p.?c.439-6T>GUnknown
DAB1ENSG00000173406ENST00000371231p.?c.439-6T>GUnknown
WDTC1ENSG00000142784ENST00000361771p.Q226Lc.677A>TSubstitution - Missense
FZD10ENSG00000111432ENST00000229030p.A560fs*>22c.1672delADeletion - Frameshift
ULK1ENSG00000177169ENST00000321867p.A728Tc.2182G>ASubstitution - Missense
ULK1ENSG00000177169ENST00000321867p.R959Hc.2876G>ASubstitution - Missense
ENST00000339192p.G627Gc.1881C>TSubstitution - coding silent
TMEM132BENSG00000139364ENST00000299308p.N823Yc.2467A>TSubstitution - Missense
RSRC2ENSG00000111011ENST00000331738p.R175Wc.523C>TSubstitution - Missense
DENRENSG00000139726ENST00000280557p.E163Kc.487G>ASubstitution - Missense
PITPNM2ENSG00000090975ENST00000320201p.L604Vc.1810C>GSubstitution - Missense
CCDC81ENSG00000149201ENST00000445632p.N632Nc.1896C>TSubstitution - coding silent
CCDC81ENSG00000149201ENST00000354755p.N542Nc.1626C>TSubstitution - coding silent
ME3ENSG00000151376ENST00000393324p.K47Tc.140A>CSubstitution - Missense
NEDD4ENSG00000069869ENST00000435532p.?c.1483+5G>AUnknown
ALDH1A2ENSG00000128918ENST00000249750p.R394Rc.1182A>GSubstitution - coding silent
SLC27A2ENSG00000140284ENST00000267842p.?c.1258+6G>AUnknown
PIK3C2BENSG00000133056ENST00000367184p.A51Tc.151G>ASubstitution - Missense
KIF21BENSG00000116852ENST00000332129p.?c.4122-10C>TUnknown
KIAA0907ENSG00000132680ENST00000368321p.P392Sc.1174C>TSubstitution - Missense
NUP210LENSG00000143552ENST00000368559p.V415Mc.1243G>ASubstitution - Missense
ENST00000338894p.G84Sc.250G>ASubstitution - Missense
KAZNENSG00000189337ENST00000376030p.G637Sc.1909G>ASubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.E24Gc.71A>GSubstitution - Missense
LCE2AENSG00000187173ENST00000368779p.Q7Hc.21G>CSubstitution - Missense
PGLYRP3ENSG00000159527ENST00000290722p.C81Cc.243C>TSubstitution - coding silent
ENSG00000206044ENST00000382678p.P148fs*11c.443delCDeletion - Frameshift
TMTC1ENSG00000133687ENST00000256062p.P149Pc.447C>TSubstitution - coding silent
ENST00000266524p.N600Nc.1800C>TSubstitution - coding silent
YARS2ENSG00000139131ENST00000324868p.N140Nc.420C>TSubstitution - coding silent
TSPAN9ENSG00000011105ENST00000011898p.N136Nc.408C>TSubstitution - coding silent
IQSEC3ENSG00000120645ENST00000538872p.S315Pc.943T>CSubstitution - Missense
PCSK6ENSG00000140479ENST00000344273p.S165Fc.494C>TSubstitution - Missense
PYGLENSG00000100504ENST00000216392p.L396Lc.1188G>CSubstitution - coding silent
BCL11BENSG00000127152ENST00000357195p.P254Pc.762G>ASubstitution - coding silent
FAM177A1ENSG00000151327ENST00000280987p.E175_N176insEc.505-1_505insGAAInsertion - In frame
FAM177A1ENSG00000151327ENST00000396472p.E152_N153insEc.436-1_436insGAAInsertion - In frame
SSTR1ENSG00000139874ENST00000267377p.A216Tc.646G>ASubstitution - Missense
CTAGE5ENSG00000150527ENST00000280083p.Q379Rc.1136A>GSubstitution - Missense
MROH7ENSG00000184313ENST00000421030p.H1279Rc.3836A>GSubstitution - Missense
PPAP2BENSG00000162407ENST00000371250p.A99Vc.296C>TSubstitution - Missense
HEATR5AENSG00000129493ENST00000389961p.R1229Gc.3685A>GSubstitution - Missense
ENST00000294347p.R39Qc.116G>ASubstitution - Missense
MAST2ENSG00000086015ENST00000361297p.A1588Tc.4762G>ASubstitution - Missense
TSPAN1ENSG00000117472ENST00000372003p.G64Sc.190G>ASubstitution - Missense
SPG11ENSG00000104133ENST00000261866p.L297Lc.891G>ASubstitution - coding silent
SPG11ENSG00000104133ENST00000558319p.L297Lc.891G>ASubstitution - coding silent
SHFENSG00000138606ENST00000290894p.R288*c.862C>TSubstitution - Nonsense
ZNF106ENSG00000103994ENST00000263805p.?c.5449-3C>TUnknown
STARD9ENSG00000159433ENST00000290607p.K169fs*24c.500delADeletion - Frameshift
SPTBN5ENSG00000137877ENST00000320955p.A560Ac.1680C>TSubstitution - coding silent
HRNRENSG00000197915ENST00000368801p.G676Sc.2026G>ASubstitution - Missense
MAELENSG00000143194ENST00000367872p.V142Ic.424G>ASubstitution - Missense
POGZENSG00000143442ENST00000491586p.R804Qc.2411G>ASubstitution - Missense
CGNENSG00000143375ENST00000271636p.P280Pc.840G>ASubstitution - coding silent
PRAMEF1ENSG00000116721ENST00000332296p.T246Tc.738G>ASubstitution - coding silent
SPAG17ENSG00000155761ENST00000336338p.S1836fs*10c.5506delADeletion - Frameshift
NHLH2ENSG00000177551ENST00000369506p.A83Tc.247G>ASubstitution - Missense
NM_152696p.E477fs*19c.1428delGDeletion - Frameshift
TESCENSG00000088992ENST00000392545p.E139Kc.415G>ASubstitution - Missense
CITENSG00000122966ENST00000392521p.P1717Pc.5151C>TSubstitution - coding silent
CITENSG00000122966ENST00000261833p.P1675Pc.5025C>TSubstitution - coding silent
CHD7ENSG00000171316ENST00000423902p.R148fs*63c.438delCDeletion - Frameshift
CHD7ENSG00000171316ENST00000423902p.D1837Yc.5509G>TSubstitution - Missense
DEFA6ENSG00000164822ENST00000297436p.R42Cc.124C>TSubstitution - Missense
PXDNLENSG00000147485ENST00000356297p.L737Lc.2211G>ASubstitution - coding silent
LYNENSG00000254087ENST00000519728p.A152Sc.454G>TSubstitution - Missense
MYT1LENSG00000186487ENST00000399161p.A212Tc.634G>ASubstitution - Missense
PARD3BENSG00000116117ENST00000351153p.P1077Lc.3230C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.V4283Vc.12849C>TSubstitution - coding silent
SIRPAENSG00000198053ENST00000356025p.W312*c.935G>ASubstitution - Nonsense
C20orf26ENSG00000089101ENST00000245957p.E515Gc.1544A>GSubstitution - Missense
TGM3ENSG00000125780ENST00000381458p.G161Dc.482G>ASubstitution - Missense
OR7G2ENSG00000170923ENST00000305456p.N176Sc.527A>GSubstitution - Missense
RNF167ENSG00000108523ENST00000571816p.Q204Qc.612G>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.T6282Ac.18844A>GSubstitution - Missense
ARRB2ENSG00000141480ENST00000269260p.P90fs*17c.264delCDeletion - Frameshift
ZMYND15ENSG00000141497ENST00000433935p.R421delRc.1260_1263CCGA>GDeletion - In frame
HOXB8ENSG00000120068ENST00000239144p.T66Rc.197C>GSubstitution - Missense
ENST00000456564p.E1001Dc.3003G>TSubstitution - Missense
ENST00000456564p.D1000Ec.3000T>GSubstitution - Missense
CMIPENSG00000153815ENST00000537098p.G540Rc.1618G>ASubstitution - Missense
CMIPENSG00000153815ENST00000539778p.G446Rc.1336G>ASubstitution - Missense
RBFOX1ENSG00000078328ENST00000550418p.T71Tc.213G>ASubstitution - coding silent
RBFOX1ENSG00000078328ENST00000311745p.T100Mc.299C>TSubstitution - Missense
RBFOX1ENSG00000078328ENST00000355637p.T100Mc.299C>TSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000478060p.H29Nc.85C>ASubstitution - Missense
CNTNAP4ENSG00000152910ENST00000478060p.D397Dc.1191C>TSubstitution - coding silent
WWOXENSG00000186153ENST00000566780p.V127Vc.381T>CSubstitution - coding silent
C7ENSG00000112936ENST00000313164p.A291Tc.871G>ASubstitution - Missense
ZNRF1ENSG00000186187ENST00000335325p.G109Gc.327T>CSubstitution - coding silent
LDHDENSG00000166816ENST00000300051p.S248Sc.744C>TSubstitution - coding silent
CHST6ENSG00000183196ENST00000390664p.R166Hc.497G>ASubstitution - Missense
EIF2AK4ENSG00000128829ENST00000263791p.P665Pc.1995G>ASubstitution - coding silent
NM_014363.3p.L379Lc.1135T>CSubstitution - coding silent
TNFRSF19ENSG00000127863ENST00000382258p.?c.610+3A>GUnknown
ENST00000360220p.A562Vc.1685C>TSubstitution - Missense
SOX1ENSG00000182968ENST00000330949p.G149Gc.447C>TSubstitution - coding silent
C13orf35ENSG00000197595ENST00000356049p.R49Hc.146G>ASubstitution - Missense
PIK3CDENSG00000171608ENST00000377346p.C147Cc.441C>TSubstitution - coding silent
PIK3CDENSG00000171608ENST00000377346p.P486Pc.1458C>TSubstitution - coding silent
PLEKHO2ENSG00000241839ENST00000323544p.C44Yc.131G>ASubstitution - Missense
DPP8ENSG00000074603ENST00000300141p.R199Qc.596G>ASubstitution - Missense
DENND4AENSG00000174485ENST00000443035p.A643Tc.1927G>ASubstitution - Missense
TLN2ENSG00000171914ENST00000306829p.A1983Tc.5947G>ASubstitution - Missense
TLN2ENSG00000171914ENST00000306829p.A2447Ac.7341C>TSubstitution - coding silent
TPM1ENSG00000140416ENST00000288398p.L185Ic.553C>ASubstitution - Missense
TPM1ENSG00000140416ENST00000334895p.L149Ic.445C>ASubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.A1814Ac.5442C>TSubstitution - coding silent
ZNF609ENSG00000180357ENST00000326648p.V31Vc.93A>GSubstitution - coding silent
ZNF609ENSG00000180357ENST00000416172p.V31Vc.93A>GSubstitution - coding silent
ENST00000416172_v68p.V31Vc.93A>GSubstitution - coding silent
UNC79ENSG00000133958ENST00000256339p.?c.821+8G>AUnknown
SYNE3ENSG00000176438ENST00000334258p.A709Ac.2127G>ASubstitution - coding silent
SYNE3ENSG00000176438ENST00000334258p.A709Ac.2127G>ASubstitution - coding silent
TCL1BENSG00000213231ENST00000340722p.A86Ac.258C>TSubstitution - coding silent
RPS6KA5ENSG00000100784ENST00000261991p.A328Tc.982G>ASubstitution - Missense
RPS6KA5ENSG00000100784ENST00000261991p.A328Tc.982G>ASubstitution - Missense
C14orf159ENSG00000133943ENST00000523816p.P228Sc.682C>TSubstitution - Missense
CPSF2ENSG00000165934ENST00000298875p.A599Vc.1796C>TSubstitution - Missense
PLEKHG3ENSG00000126822ENST00000247226p.E834Ac.2501A>CSubstitution - Missense
SPTBENSG00000070182ENST00000389722p.S333Sc.999G>ASubstitution - coding silent
SPTBENSG00000070182ENST00000542895p.S333Sc.999G>ASubstitution - coding silent
ODF2LENSG00000122417ENST00000370567p.A57Ac.171G>ASubstitution - coding silent
PER3ENSG00000049246ENST00000361923p.H671Hc.2013C>TSubstitution - coding silent
PDE4BENSG00000184588ENST00000329654p.T707Tc.2121G>ASubstitution - coding silent
TESK1ENSG00000107140ENST00000336395p.R164Wc.490C>TSubstitution - Missense
NOL6ENSG00000165271ENST00000297990p.T926Ac.2776A>GSubstitution - Missense
CAAP1ENSG00000120159ENST00000333916p.G355Dc.1064G>ASubstitution - Missense
FLNCENSG00000128591ENST00000325888p.C198Cc.594C>TSubstitution - coding silent
AASSENSG00000008311ENST00000393376p.A431Tc.1291G>ASubstitution - Missense
ZNF217ENSG00000171940ENST00000371471p.Q931Qc.2793G>ASubstitution - coding silent
CBLN4ENSG00000054803ENST00000064571p.P21Pc.63G>ASubstitution - coding silent
ZBP1ENSG00000124256ENST00000371173p.V127Dc.380T>ASubstitution - Missense
ZBP1ENSG00000124256ENST00000541799p.V127Dc.380T>ASubstitution - Missense
NPEPL1ENSG00000215440ENST00000356091p.V353Mc.1057G>ASubstitution - Missense
ADNPENSG00000101126ENST00000349014p.N1049Nc.3147T>CSubstitution - coding silent
NFATC2ENSG00000101096ENST00000396009p.A170Tc.508G>ASubstitution - Missense
PCNAENSG00000132646ENST00000379143p.Q184Qc.552G>ASubstitution - coding silent
ARHGAP40ENSG00000124143ENST00000373345p.?c.476-10C>TUnknown
HSPA12BENSG00000132622ENST00000254963p.A629Vc.1886C>TSubstitution - Missense
ACSS2ENSG00000131069ENST00000253382p.L461Lc.1381C>TSubstitution - coding silent
CEP250ENSG00000126001ENST00000397527p.S1487Fc.4460C>TSubstitution - Missense
LILRB4ENSG00000186818ENST00000391736p.S102Nc.305G>ASubstitution - Missense
SLC4A11ENSG00000088836ENST00000380056p.S652Sc.1956G>ASubstitution - coding silent
E2F1ENSG00000101412ENST00000343380p.L435fs*>3c.1303delCDeletion - Frameshift
LRRC4BENSG00000131409ENST00000389201p.N563Sc.1688A>GSubstitution - Missense
SHANK1ENSG00000161681ENST00000293441p.A1551Tc.4651G>ASubstitution - Missense
MYH14ENSG00000105357ENST00000262269p.E1309Dc.3927G>CSubstitution - Missense
ENST00000301415p.E1268Dc.3804G>CSubstitution - Missense
CPT1CENSG00000169169ENST00000323446p.T314Tc.942G>ASubstitution - coding silent
ZNF554ENSG00000172006ENST00000317243p.T431Tc.1293C>TSubstitution - coding silent
TLE6ENSG00000104953ENST00000246112p.R449Mc.1346G>TSubstitution - Missense
TLE6ENSG00000104953ENST00000452088p.R326Mc.977G>TSubstitution - Missense
TNRC6CENSG00000078687ENST00000335749p.T1298Tc.3894G>ASubstitution - coding silent
TMC8ENSG00000167895ENST00000318430p.S694Sc.2082C>TSubstitution - coding silent
ENST00000300671p.?c.7086+10C>AUnknown
EXOC7ENSG00000182473ENST00000335146p.K346Nc.1038G>CSubstitution - Missense
ITGB4ENSG00000132470ENST00000339591p.E995Gc.2984A>GSubstitution - Missense
ITGB4ENSG00000132470ENST00000339591p.S1366Sc.4098C>TSubstitution - coding silent
LLGL1ENSG00000131899ENST00000316843p.R628Hc.1883G>ASubstitution - Missense
LGALS9CENSG00000171916ENST00000328114p.G116Rc.346G>ASubstitution - Missense
RTN4RL1ENSG00000185924ENST00000331238p.A42Vc.125C>TSubstitution - Missense
TRPV2ENSG00000187688ENST00000338560p.G35Rc.103G>ASubstitution - Missense
CCDC144AENSG00000170160ENST00000456009p.T863Tc.2589G>ASubstitution - coding silent
HS3ST3B1ENSG00000125430ENST00000360954p.R369Rc.1107C>TSubstitution - coding silent
ESX1ENSG00000123576ENST00000372588p.A168Ac.504G>ASubstitution - coding silent
CXorf57ENSG00000147231ENST00000372548p.L203Fc.609A>CSubstitution - Missense
PRPS1ENSG00000147224ENST00000372435p.T303Ac.907A>GSubstitution - Missense
ENSG00000129951ENST00000359894p.A118Tc.352G>ASubstitution - Missense
ADAMTS10ENSG00000142303ENST00000270328p.A849Vc.2546C>TSubstitution - Missense
ARHGEF18ENSG00000104880ENST00000319670p.T155Tc.465G>ASubstitution - coding silent
TENM1ENSG00000009694ENST00000371130p.S971Lc.2912C>TSubstitution - Missense
TENM1ENSG00000009694ENST00000371130p.Q492Rc.1475A>GSubstitution - Missense
OCRLENSG00000122126ENST00000371113p.?c.939+7C>TUnknown
XPNPEP2ENSG00000122121ENST00000371106p.A656Tc.1966G>ASubstitution - Missense
BCORL1ENSG00000085185ENST00000218147p.D1569Dc.4707C>TSubstitution - coding silent
ZNF280CENSG00000056277ENST00000370978p.A526Tc.1576G>ASubstitution - Missense
ARHGAP36ENSG00000147256ENST00000276211p.S167Nc.500G>ASubstitution - Missense
KLHL13ENSG00000003096ENST00000262820p.L227Lc.679C>TSubstitution - coding silent
WDR44ENSG00000131725ENST00000254029p.N280Sc.839A>GSubstitution - Missense
ENST00000435384p.N280Sc.839A>GSubstitution - Missense
ZCCHC12ENSG00000174460ENST00000310164p.R7Hc.20G>ASubstitution - Missense
NKAPENSG00000101882ENST00000371410p.D218Gc.653A>GSubstitution - Missense
NKAPENSG00000101882ENST00000371410p.S132Sc.396T>CSubstitution - coding silent
CT47B1ENSG00000236446ENST00000371311p.V123Vc.369G>ASubstitution - coding silent
PAK3ENSG00000077264ENST00000360648p.?c.384+4C>TUnknown
ALG13ENSG00000101901ENST00000394780p.R466Hc.1397G>ASubstitution - Missense
ALG13ENSG00000101901ENST00000251943p.R362Hc.1085G>ASubstitution - Missense
ARHGAP6ENSG00000047648ENST00000380732p.T577Sc.1730C>GSubstitution - Missense
DUSP2ENSG00000158050ENST00000288943p.P178Pc.534C>TSubstitution - coding silent
POLR1AENSG00000068654ENST00000263857p.M654Vc.1960A>GSubstitution - Missense
SMYD1ENSG00000115593ENST00000419482p.S128Sc.384C>TSubstitution - coding silent
KRTAP10-4ENSG00000215454ENST00000400374p.A372Tc.1114G>ASubstitution - Missense
COL6A1ENSG00000142156ENST00000361866p.R711Wc.2131C>TSubstitution - Missense
COL6A2ENSG00000142173ENST00000357838p.R880Qc.2639G>ASubstitution - Missense
TNPO2ENSG00000105576ENST00000425528p.T458Tc.1374G>ASubstitution - coding silent
TNPO2ENSG00000105576ENST00000441499p.T458Tc.1374G>ASubstitution - coding silent
CCDC151ENSG00000198003ENST00000356392p.K295Mc.884A>TSubstitution - Missense
ENSG00000188474ENST00000339302p.C201Yc.602G>ASubstitution - Missense
ZNF44ENSG00000197857ENST00000426973p.R262Cc.784C>TSubstitution - Missense
HMHA1ENSG00000180448ENST00000313093p.R804Cc.2410C>TSubstitution - Missense
ENST00000250872p.A574Tc.1720G>ASubstitution - Missense
KANK2ENSG00000197256ENST00000355150p.T127Tc.381G>ASubstitution - coding silent
RPRD1AENSG00000141425ENST00000319040p.A231Ac.693G>ASubstitution - coding silent
MYOM1ENSG00000101605ENST00000356443p.K1343Rc.4028A>GSubstitution - Missense
MYOM1ENSG00000101605ENST00000356443p.T287Tc.861G>ASubstitution - coding silent
DTNAENSG00000134769ENST00000444659p.A468Vc.1403C>TSubstitution - Missense
DTNAENSG00000134769ENST00000399121p.A408Vc.1223C>TSubstitution - Missense
DTNAENSG00000134769ENST00000399097p.A116Vc.347C>TSubstitution - Missense
DTNAENSG00000134769ENST00000269190p.A469Vc.1406C>TSubstitution - Missense
LAMA3ENSG00000053747ENST00000269217p.R1277Cc.3829C>TSubstitution - Missense
LAMA3ENSG00000053747ENST00000313654p.R2886Cc.8656C>TSubstitution - Missense
HRH4ENSG00000134489ENST00000256906p.Y122Yc.366T>CSubstitution - coding silent
SIRT7ENSG00000187531ENST00000328666p.G121fs*20c.362delGDeletion - Frameshift
NOTUMENSG00000185269ENST00000409678p.R361Wc.1081C>TSubstitution - Missense
ENST00000330917p.R295Wc.883C>TSubstitution - Missense
DUS1LENSG00000169718ENST00000306796p.?c.397+3G>AUnknown
ENPP7ENSG00000182156ENST00000328313p.H353Hc.1059C>TSubstitution - coding silent
CHD3ENSG00000170004ENST00000330494p.V1037fs*36c.3101delTDeletion - Frameshift
SLC26A11ENSG00000181045ENST00000361193p.G166Sc.496G>ASubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.L1192Vc.3574C>GSubstitution - Missense
ANKRD13BENSG00000198720ENST00000394859p.V395Ic.1183G>ASubstitution - Missense
DNAH2ENSG00000183914ENST00000389173p.E4172Kc.12514G>ASubstitution - Missense
SU_NEK8p.*704fs?c.2103delCDeletion - Frameshift
DHRS13ENSG00000167536ENST00000378895p.R259Kc.776G>ASubstitution - Missense
SEZ6ENSG00000063015ENST00000317338p.A449Tc.1345G>ASubstitution - Missense
CLUHENSG00000132361ENST00000435359p.A407Vc.1220C>TSubstitution - Missense
CLUHENSG00000132361ENST00000435359p.?c.1153-8C>TUnknown
GNA13ENSG00000120063ENST00000439174p.V10Lc.28G>CSubstitution - Missense
MAPK7ENSG00000166484ENST00000308406p.R534Qc.1601G>ASubstitution - Missense
HIC1ENSG00000177374ENST00000399849p.A73Ac.219C>TSubstitution - coding silent
TANC2ENSG00000170921ENST00000389520p.R43Rc.129C>TSubstitution - coding silent
ENST00000389520_v65p.R43Rc.129C>TSubstitution - coding silent
ENST00000389520_v65p.V1886Ic.5656G>ASubstitution - Missense
SCN4AENSG00000007314ENST00000435607p.P192Pc.576C>TSubstitution - coding silent
MED13ENSG00000108510ENST00000397786p.V1732Ac.5195T>CSubstitution - Missense
MED13ENSG00000108510ENST00000397786p.V778Vc.2334C>TSubstitution - coding silent
MRC2ENSG00000011028ENST00000303375p.?c.859+8G>AUnknown
MRC2ENSG00000011028ENST00000303375p.?c.4220-10G>AUnknown
TNKSENSG00000173273ENST00000310430p.R683Rc.2049G>ASubstitution - coding silent
KIF13BENSG00000197892ENST00000524189p.R168Hc.503G>ASubstitution - Missense
KIF13BENSG00000197892ENST00000524189p.R168Hc.503G>ASubstitution - Missense
SORBS3ENSG00000120896ENST00000240123p.R137*c.409C>TSubstitution - Nonsense
C8orf58ENSG00000241852ENST00000289989p.S69Pc.205T>CSubstitution - Missense
BIN3ENSG00000147439ENST00000276416p.T151Tc.453G>ASubstitution - coding silent
ENST00000380781p.R100Hc.299G>ASubstitution - Missense
ADRA1AENSG00000120907ENST00000380573p.A189Ac.567G>ASubstitution - coding silent
CHRNA2ENSG00000120903ENST00000407991p.S302Sc.906G>ASubstitution - coding silent
MYOM2ENSG00000036448ENST00000262113p.C648Cc.1944C>TSubstitution - coding silent
NEK4ENSG00000114904ENST00000233027p.C349Yc.1046G>ASubstitution - Missense
PGM5ENSG00000154330ENST00000396396p.L201Pc.602T>CSubstitution - Missense
APBA1ENSG00000107282ENST00000265381p.P249Pc.747C>TSubstitution - coding silent
ALDH1B1ENSG00000137124ENST00000377698p.S50Ic.149G>TSubstitution - Missense
PIAS2ENSG00000078043ENST00000398654p.A41Ac.123G>ASubstitution - coding silent
CTIFENSG00000134030ENST00000256413p.R127Hc.380G>ASubstitution - Missense
PAG1ENSG00000076641ENST00000220597p.A148Vc.443C>TSubstitution - Missense
LRRCC1ENSG00000133739ENST00000414626p.N357Dc.1069A>GSubstitution - Missense
LRRCC1ENSG00000133739ENST00000360375p.A574Ac.1722G>ASubstitution - coding silent
LOXHD1ENSG00000167210ENST00000536736p.A679Tc.2035G>ASubstitution - Missense
NM_007332.1p.L584fs*43c.1751delTDeletion - Frameshift
KCNB2ENSG00000182674ENST00000523207p.N525Sc.1574A>GSubstitution - Missense
LRRC14ENSG00000160959ENST00000292524p.R73Hc.218G>ASubstitution - Missense
ENST00000292562_v68p.R369Kc.1106G>ASubstitution - Missense
ZNF16ENSG00000170631ENST00000394909p.R179Rc.537G>ASubstitution - coding silent
FBXL6ENSG00000182325ENST00000331890p.?c.575+9T>AUnknown
SLC39A4ENSG00000147804ENST00000301305p.L130Lc.390C>TSubstitution - coding silent
SCRIBENSG00000180900ENST00000356994p.G643Rc.1927G>ASubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.M2142Tc.6425T>CSubstitution - Missense
PLECENSG00000178209ENST00000322810p.R1648Qc.4943G>ASubstitution - Missense
PLECENSG00000178209ENST00000436759p.R1538Qc.4613G>ASubstitution - Missense
CYP3A43ENSG00000021461ENST00000222382p.F226Fc.678T>CSubstitution - coding silent
SCRIBENSG00000180900ENST00000356994p.G643Rc.1927G>ASubstitution - Missense
TECPR1ENSG00000205356ENST00000379795p.T457Tc.1371C>TSubstitution - coding silent
DYNC1I1ENSG00000158560ENST00000324972p.R54Hc.161G>ASubstitution - Missense
TRPV6ENSG00000165125ENST00000359396p.F434Yc.1301T>ASubstitution - Missense
AKAP9ENSG00000127914ENST00000356239p.Y145Yc.435T>CSubstitution - coding silent
NM_147171.1p.Y157Yc.471T>CSubstitution - coding silent
BTN2A1ENSG00000112763ENST00000312541p.G199Sc.595G>ASubstitution - Missense
ENST00000265424p.G199Sc.595G>ASubstitution - Missense
HIST1H2BBENSG00000196226ENST00000357905p.V99Vc.297G>ASubstitution - coding silent
HIST1H2BFENSG00000197846ENST00000359985p.S56Pc.166T>CSubstitution - Missense
DACT2ENSG00000164488ENST00000366795p.S201Sc.603C>TSubstitution - coding silent
THBS2ENSG00000186340ENST00000366787p.D825Gc.2474A>GSubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.R2124Hc.6371G>ASubstitution - Missense
ENST00000273600p.C4228Cc.12684C>TSubstitution - coding silent
PBRM1ENSG00000163939ENST00000337303p.E206Kc.616G>ASubstitution - Missense
PBRM1ENSG00000163939ENST00000296302p.E206Kc.616G>ASubstitution - Missense
TLR9ENSG00000239732ENST00000360658p.G102Dc.305G>ASubstitution - Missense
AMIGO3ENSG00000176020ENST00000320431p.V398Mc.1192G>ASubstitution - Missense
CAMKVENSG00000164076ENST00000477224p.S292Fc.875C>TSubstitution - Missense
IFRD2ENSG00000214706ENST00000336089p.R281Hc.842G>ASubstitution - Missense
HYAL2ENSG00000068001ENST00000395139p.G315Gc.945C>TSubstitution - coding silent
CORINENSG00000145244ENST00000273857p.P748Pc.2244G>ASubstitution - coding silent
XM_496642.1p.R335Qc.1004G>ASubstitution - Missense
DAG1ENSG00000173402ENST00000308775p.A375Tc.1123G>ASubstitution - Missense
WDR19ENSG00000157796ENST00000399820p.?c.604-3C>TUnknown
KLBENSG00000134962ENST00000257408p.A246Vc.737C>TSubstitution - Missense
ENSG00000168824ENST00000421177p.V77Vc.231C>TSubstitution - coding silent
SOD1ENSG00000142168ENST00000270142p.F21Lc.61T>CSubstitution - Missense
KRTAP4-3ENSG00000196156ENST00000391356p.R26Cc.76C>TSubstitution - Missense
ENST00000251648p.R108Hc.323G>ASubstitution - Missense
GPR179ENSG00000188888ENST00000342292p.E171Kc.511G>ASubstitution - Missense
RPL23ENSG00000125691ENST00000394332p.N36fs*24c.102_103insAInsertion - Frameshift
CAMKK1ENSG00000004660ENST00000158166p.?c.911-1G>AUnknown
CAMKK1ENSG00000004660ENST00000348335p.?c.797-1G>AUnknown
NLRC5ENSG00000140853ENST00000262510p.A1184Tc.3550G>ASubstitution - Missense
CIAPIN1ENSG00000005194ENST00000394391p.A34Vc.101C>TSubstitution - Missense
SEPT12ENSG00000140623ENST00000268231p.C161Cc.483C>TSubstitution - coding silent
UBN1ENSG00000118900ENST00000396658p.?c.3024+9C>TUnknown
FAM47E-STBD1ENSG00000118804ENST00000237642p.T87Sc.259A>TSubstitution - Missense
ENAMENSG00000132464ENST00000396073p.L28Lc.82C>TSubstitution - coding silent
TBC1D14ENSG00000132405ENST00000409757p.K409Kc.1227A>GSubstitution - coding silent
ENST00000340816p.K394Kc.1182A>GSubstitution - coding silent
UGT2B11ENSG00000213759ENST00000446444p.F486Fc.1458C>TSubstitution - coding silent
ROBO1ENSG00000169855ENST00000464233p.T46fs*3c.131_132insCInsertion - Frameshift
SSUH2ENSG00000125046ENST00000341795p.C158Cc.474C>TSubstitution - coding silent
NM_015009.1p.S955Sc.2865C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T3780Tc.11340C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.S3560Lc.10679C>TSubstitution - Missense
ENST00000405167p.S3560Lc.10679C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T3380Tc.10140C>TSubstitution - coding silent
ENST00000405167p.T3380Tc.10140C>TSubstitution - coding silent
BIRC6ENSG00000115760ENST00000421745p.T3211Ac.9631A>GSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.T3211Ac.9631A>GSubstitution - Missense
FEZ2ENSG00000171055ENST00000405912p.Y345Yc.1035T>CSubstitution - coding silent
CAPN13ENSG00000162949ENST00000295055p.A90Tc.268G>ASubstitution - Missense
ENST00000404496p.S371Sc.1113C>TSubstitution - coding silent
AP1B1ENSG00000100280ENST00000357586p.L317Pc.950T>CSubstitution - Missense
SMTNENSG00000183963ENST00000358743p.S379Sc.1137C>TSubstitution - coding silent
NPBWR2ENSG00000125522ENST00000369768p.A163fs*37c.487delGDeletion - Frameshift
SLC52A3ENSG00000101276ENST00000217254p.G162Sc.484G>ASubstitution - Missense
COL20A1ENSG00000101203ENST00000326996p.A1025Vc.3074C>TSubstitution - Missense
COL20A1ENSG00000101203ENST00000358894p.A1025Vc.3074C>TSubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.V1387Mc.4159G>ASubstitution - Missense
ZNF841ENSG00000197608ENST00000389534p.R469Cc.1405C>TSubstitution - Missense
MYH4ENSG00000264424ENST00000255381p.?c.4181+8C>TUnknown
SHISA6ENSG00000188803ENST00000432116p.R133Cc.397C>TSubstitution - Missense
DPEP1ENSG00000015413ENST00000261615p.A326Tc.976G>ASubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.G1551Rc.4651G>ASubstitution - Missense
ZSCAN32ENSG00000140987ENST00000304926p.Y323fs*19c.967_968insCInsertion - Frameshift
ZSCAN32ENSG00000140987ENST00000304926p.E165Ac.494A>CSubstitution - Missense
SLX4ENSG00000188827ENST00000294008p.G1042Gc.3126C>TSubstitution - coding silent
ITGAMENSG00000169896ENST00000287497p.R732Cc.2194C>TSubstitution - Missense
DZIP3ENSG00000198919ENST00000361582p.?c.258+6G>AUnknown
KIAA1211LENSG00000196872ENST00000397899p.R428Rc.1284C>TSubstitution - coding silent
SENP7ENSG00000138468ENST00000394095p.?c.796+10C>AUnknown
NM_020654.2p.?c.598+10C>AUnknown
OTOFENSG00000115155ENST00000272371p.C276Cc.828C>TSubstitution - coding silent
CENPAENSG00000115163ENST00000335756p.R80Hc.239G>ASubstitution - Missense
ANKRD36ENSG00000135976ENST00000461153p.?c.2784+3A>GUnknown
ZAP70ENSG00000115085ENST00000264972p.T588Tc.1764C>TSubstitution - coding silent
VWA3BENSG00000168658ENST00000477737p.A769Tc.2305G>ASubstitution - Missense
ENST00000407686p.R112Hc.335G>ASubstitution - Missense
GPC1ENSG00000063660ENST00000264039p.T121Tc.363G>ASubstitution - coding silent
FZD7ENSG00000155760ENST00000286201p.A385Ac.1155G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.A5765Tc.17293G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.A23047Ac.69141C>TSubstitution - coding silent
NM_003319p.A22922Ac.68766C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.R31678Hc.95033G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.R25306Hc.75917G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.R25373Hc.76118G>ASubstitution - Missense
NM_003319p.R25181Hc.75542G>ASubstitution - Missense
ITGA6ENSG00000091409ENST00000409080p.S286Nc.857G>ASubstitution - Missense
ITGA6ENSG00000091409ENST00000264107p.S286Nc.857G>ASubstitution - Missense
CDCA7ENSG00000144354ENST00000306721p.A157Ac.471G>ASubstitution - coding silent
HAT1ENSG00000128708ENST00000264108p.R411Hc.1232G>ASubstitution - Missense
PCNTENSG00000160299ENST00000359568p.R2888Pc.8663G>CSubstitution - Missense
DIP2AENSG00000160305ENST00000417564p.A758Ac.2274G>ASubstitution - coding silent
ASXL1ENSG00000171456ENST00000375687p.Q36*c.106C>TSubstitution - Nonsense
ASXL1ENSG00000171456ENST00000375687p.T557Tc.1671C>TSubstitution - coding silent
C20orf112ENSG00000197183ENST00000359676p.A84Tc.250G>ASubstitution - Missense
NOP56ENSG00000101361ENST00000445139p.E196Kc.586G>ASubstitution - Missense
C18orf8ENSG00000141452ENST00000269221p.A214Tc.640G>ASubstitution - Missense
FCARENSG00000186431ENST00000355524p.S179Fc.536C>TSubstitution - Missense
NLRP7ENSG00000167634ENST00000328092p.A420Ac.1260G>ASubstitution - coding silent
NLRP7ENSG00000167634ENST00000448121p.A411Tc.1231G>ASubstitution - Missense
ABHD3ENSG00000158201ENST00000289119p.S30Sc.90G>ASubstitution - coding silent
RBBP8ENSG00000101773ENST00000399725p.A741Vc.2222C>TSubstitution - Missense
PIAS2ENSG00000078043ENST00000324794p.G48Sc.142G>ASubstitution - Missense
PIAS2ENSG00000078043ENST00000398654p.G48Sc.142G>ASubstitution - Missense
PIAS2ENSG00000078043ENST00000324794p.A41Ac.123G>ASubstitution - coding silent
KIAA0895LENSG00000196123ENST00000290881p.R150Hc.449G>ASubstitution - Missense
YTHDC2ENSG00000047188ENST00000161863p.?c.1688+10T>CUnknown
SEMA6AENSG00000092421ENST00000343348p.V681Mc.2041G>ASubstitution - Missense
GPR114ENSG00000159618ENST00000340339p.S29Cc.85A>TSubstitution - Missense
ROPN1LENSG00000145491ENST00000274134p.?c.131+7G>AUnknown
EPB41L4AENSG00000129595ENST00000261486p.?c.1933-9A>TUnknown
UNC5CENSG00000182168ENST00000453304p.V453Ac.1358T>CSubstitution - Missense
ZNF619ENSG00000177873ENST00000314686p.C482Cc.1446C>TSubstitution - coding silent
TRANK1ENSG00000168016ENST00000429976p.R1608Qc.4823G>ASubstitution - Missense
TRANK1ENSG00000168016ENST00000428977p.R1058Qc.3173G>ASubstitution - Missense
TRANK1ENSG00000168016ENST00000301807p.R1058Qc.3173G>ASubstitution - Missense
ZCWPW2ENSG00000206559ENST00000383768p.T266Tc.798G>ASubstitution - coding silent
DYNC1LI1ENSG00000144635ENST00000273130p.T518Mc.1553C>TSubstitution - Missense
GLB1ENSG00000170266ENST00000445488p.T595Tc.1785G>ASubstitution - coding silent
GLB1ENSG00000170266ENST00000307363p.T547Tc.1641G>ASubstitution - coding silent
TMPPEENSG00000188167ENST00000342462p.A185Tc.553G>ASubstitution - Missense
AFF3ENSG00000144218ENST00000356421p.G515Rc.1543G>ASubstitution - Missense
TBC1D8ENSG00000204634ENST00000409318p.P325Pc.975G>ASubstitution - coding silent
TBC1D8ENSG00000204634ENST00000376840p.R174Cc.520C>TSubstitution - Missense
TBC1D8ENSG00000204634ENST00000409318p.R189Cc.565C>TSubstitution - Missense
SLC9A2ENSG00000115616ENST00000233969p.M157Tc.470T>CSubstitution - Missense
NM_003985p.V602Vc.1806G>ASubstitution - coding silent
CDC42EP4ENSG00000179604ENST00000335793p.P232Lc.695C>TSubstitution - Missense
DNAI2ENSG00000171595ENST00000311014p.Y5Cc.14A>GSubstitution - Missense
TMEM95ENSG00000182896ENST00000330767p.A47Tc.139G>ASubstitution - Missense
ABCA6ENSG00000154262ENST00000284425p.?c.4185-5G>CUnknown
ABCA5ENSG00000154265ENST00000392676p.A285Vc.854C>TSubstitution - Missense
ZSCAN1ENSG00000152467ENST00000282326p.A222Tc.664G>ASubstitution - Missense
ZNF324BENSG00000249471ENST00000391696p.D104Nc.310G>ASubstitution - Missense
CATSPERDENSG00000174898ENST00000381624p.A714Tc.2140G>ASubstitution - Missense
ZNF547ENSG00000152433ENST00000282282p.L41Lc.123G>ASubstitution - coding silent
DUS3LENSG00000141994ENST00000309061p.?c.388-7C>AUnknown
ZNF17ENSG00000186272ENST00000307658p.D129Ec.387T>ASubstitution - Missense
ZNF787ENSG00000142409ENST00000270459p.R185Hc.554G>ASubstitution - Missense
ZSCAN5AENSG00000131848ENST00000391713p.G408Gc.1224C>TSubstitution - coding silent
LONP1ENSG00000196365ENST00000360614p.R940Qc.2819G>ASubstitution - Missense
TMEM190ENSG00000160472ENST00000291934p.A117Vc.350C>TSubstitution - Missense
ENSG00000204620ENST00000376775p.A81Vc.242C>TSubstitution - Missense
KCND1ENSG00000102057ENST00000218176p.G129Sc.385G>ASubstitution - Missense
NYXENSG00000188937ENST00000342595p.R255Hc.764G>ASubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.P596Lc.1787C>TSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.P596Lc.1787C>TSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.P668Pc.2004G>ASubstitution - coding silent
FNTAENSG00000168522ENST00000302279p.T120Pc.358A>CSubstitution - Missense
SPIDRENSG00000164808ENST00000297423p.A504Vc.1511C>TSubstitution - Missense
NM_006904p.S1512Cc.4534A>TSubstitution - Missense
PRKDCENSG00000253729ENST00000314191p.S1511Cc.4531A>TSubstitution - Missense
RAB11FIP1ENSG00000156675ENST00000330843p.S1214Sc.3642C>TSubstitution - coding silent
PPP2CBENSG00000104695ENST00000221138p.R303Hc.908G>ASubstitution - Missense
NRG1ENSG00000157168ENST00000356819p.T465Tc.1395G>ASubstitution - coding silent
C4orf36ENSG00000163633ENST00000295898p.?c.221-1G>AUnknown
NUDT9ENSG00000170502ENST00000302174p.A349Ac.1047G>ASubstitution - coding silent
TET2ENSG00000168769ENST00000380013p.R1440Wc.4318C>TSubstitution - Missense
TADA3ENSG00000171148ENST00000301964p.R199Hc.596G>ASubstitution - Missense
ENST00000287624p.G17Vc.50G>TSubstitution - Missense
ADH7ENSG00000196344ENST00000476959p.?c.319+9A>CUnknown
ADH7ENSG00000196344ENST00000209665p.?c.295+9A>CUnknown
MTMR14ENSG00000163719ENST00000296003p.T77Mc.230C>TSubstitution - Missense
BDH1ENSG00000161267ENST00000392378p.Y287Yc.861C>TSubstitution - coding silent
KIAA0226ENSG00000145016ENST00000273582p.?c.1846-10_1846-1>TUnknown
THRBENSG00000151090ENST00000396671p.R438Cc.1312C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A1518Tc.4552G>ASubstitution - Missense
ENST00000405167p.A1518Tc.4552G>ASubstitution - Missense
PIGZENSG00000119227ENST00000412723p.T197Rc.590C>GSubstitution - Missense
CUL3ENSG00000036257ENST00000264414p.A371Tc.1111G>ASubstitution - Missense
ENST00000373702p.?c.1827-7G>AUnknown
STK36ENSG00000163482ENST00000295709p.F1051Yc.3152T>ASubstitution - Missense
ZFAND2BENSG00000158552ENST00000289528p.?c.150+10C>TUnknown
SU_SPEGp.R1307fs*45c.3918_3919insCInsertion - Frameshift
TMEM177ENSG00000144120ENST00000272521p.T8Tc.24C>TSubstitution - coding silent
DMDENSG00000198947ENST00000378677p.Q2071*c.6211C>TSubstitution - Nonsense
DMDENSG00000198947ENST00000378677p.Q2071*c.6211C>TSubstitution - Nonsense
XM_498353.1p.D24Dc.72C>TSubstitution - coding silent
FTHL17ENSG00000132446ENST00000359202p.S103Sc.309C>TSubstitution - coding silent
FTHL17ENSG00000132446ENST00000359202p.S103Sc.309C>TSubstitution - coding silent
MAGEB17ENSG00000182798ENST00000400004p.R304Wc.910C>TSubstitution - Missense
MAGEB17ENSG00000182798ENST00000329538p.R304Wc.910C>TSubstitution - Missense
MAGEB17ENSG00000182798ENST00000329538p.R319Tc.956G>CSubstitution - Missense
CXorf23ENSG00000173681ENST00000379687p.P95Sc.283C>TSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.G237Gc.711C>TSubstitution - coding silent
FLNAENSG00000196924ENST00000369850p.G237Gc.711C>TSubstitution - coding silent
CTAG2ENSG00000126890ENST00000247306p.A69Tc.205G>ASubstitution - Missense
CTAG2ENSG00000126890ENST00000369585p.A69Tc.205G>ASubstitution - Missense
KIAA1324LENSG00000164659ENST00000450689p.A150Tc.448G>ASubstitution - Missense
SUN1ENSG00000164828ENST00000401592p.H118Hc.354C>TSubstitution - coding silent
SUN1ENSG00000164828ENST00000389574p.H68Hc.204C>TSubstitution - coding silent
IRAK1ENSG00000184216ENST00000369980p.T234Tc.702G>ASubstitution - coding silent
GSAPENSG00000186088ENST00000257626p.A433Vc.1298C>TSubstitution - Missense
MAGI2ENSG00000187391ENST00000354212p.I802Lc.2404A>CSubstitution - Missense
RAPGEF5ENSG00000136237ENST00000344041p.A678Tc.2032G>ASubstitution - Missense
NM_012294.2p.A392Tc.1174G>ASubstitution - Missense
CBX3ENSG00000122565ENST00000337620p.V35fs*2c.98delADeletion - Frameshift
IGF2RENSG00000197081ENST00000356956p.V2060Ic.6178G>ASubstitution - Missense
ARID1BENSG00000049618ENST00000346085p.P1444Pc.4332G>CSubstitution - coding silent
ARID1BENSG00000049618ENST00000275248p.P1426Pc.4278G>CSubstitution - coding silent
ADGBENSG00000118492ENST00000397944p.K535Qc.1603A>CSubstitution - Missense
ENST00000326929p.K535Qc.1603A>CSubstitution - Missense
ADGBENSG00000118492ENST00000397944p.R1517Hc.4550G>ASubstitution - Missense
ADGBENSG00000118492ENST00000367493p.R462Hc.1385G>ASubstitution - Missense
STXBP5ENSG00000164506ENST00000321680p.G695Sc.2083G>ASubstitution - Missense
STXBP5ENSG00000164506ENST00000367481p.G695Sc.2083G>ASubstitution - Missense
REPS1ENSG00000135597ENST00000258062p.G135Sc.403G>ASubstitution - Missense
PHACTR2ENSG00000112419ENST00000440869p.G432Gc.1296C>TSubstitution - coding silent
LTV1ENSG00000135521ENST00000367576p.D64Gc.191A>GSubstitution - Missense
RXFP3ENSG00000182631ENST00000330120p.K423Kc.1269G>ASubstitution - coding silent
NM_020340.2p.G1987fs*13c.5957delGDeletion - Frameshift
CDH10ENSG00000040731ENST00000264463p.T405Ic.1214C>TSubstitution - Missense
ENST00000346567p.R46Wc.136C>TSubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.T383Sc.1147A>TSubstitution - Missense
NDST4ENSG00000138653ENST00000264363p.M108Tc.323T>CSubstitution - Missense
LXNENSG00000079257ENST00000482640p.?c.162-6T>GUnknown
KPNA4ENSG00000186432ENST00000334256p.?c.1033-3C>TUnknown
C4orf21ENSG00000138658ENST00000505019p.S1221Lc.3662C>TSubstitution - Missense
ZIC4ENSG00000174963ENST00000525172p.T326Tc.978G>ASubstitution - coding silent
TM4SF1ENSG00000169908ENST00000305366p.L120Vc.358C>GSubstitution - Missense
FAM194AENSG00000163645ENST00000295910p.E29_V41>LEEc.85_122>TTAGAGGAComplex - deletion inframe
DNAH6ENSG00000115423ENST00000237449p.L3150Lc.9450A>TSubstitution - coding silent
AUP1ENSG00000115307ENST00000377526p.V197Vc.591C>ASubstitution - coding silent
FAM65AENSG00000039523ENST00000042381p.G537Sc.1609G>ASubstitution - Missense
RLTPRENSG00000159753ENST00000334583p.A401Gc.1202C>GSubstitution - Missense
RLTPRENSG00000159753ENST00000334583p.A441Gc.1322C>GSubstitution - Missense
RLTPRENSG00000159753ENST00000334583p.D535Nc.1603G>ASubstitution - Missense
RLTPRENSG00000159753ENST00000334583p.D575Nc.1723G>ASubstitution - Missense
CDH8ENSG00000150394ENST00000577390p.Y790Cc.2369A>GSubstitution - Missense
PIGQENSG00000007541ENST00000026218p.A332Tc.994G>ASubstitution - Missense
PIGQENSG00000007541ENST00000321878p.A332Tc.994G>ASubstitution - Missense
PIGQENSG00000007541ENST00000321878p.E568Gc.1703A>GSubstitution - Missense
RRADENSG00000166592ENST00000420652p.A222Ac.666G>ASubstitution - coding silent
ZNF100ENSG00000197020ENST00000358296p.T340Ac.1018A>GSubstitution - Missense
RELBENSG00000104856ENST00000221452p.Y142Yc.426C>TSubstitution - coding silent
RELBENSG00000104856ENST00000221452p.T163Mc.488C>TSubstitution - Missense
ZNF296ENSG00000170684ENST00000303809p.P36Pc.108C>TSubstitution - coding silent
ENST00000427170_v68p.?c.900+8G>AUnknown
ZNF28ENSG00000198538ENST00000339844p.D8Dc.24C>TSubstitution - coding silent
ATP8B3ENSG00000130270ENST00000525591p.H438Yc.1312C>TSubstitution - Missense
PNPLA4ENSG00000006757ENST00000381042p.L173Lc.517C>TSubstitution - coding silent
SATL1ENSG00000184788ENST00000509231p.Y605Hc.1813T>CSubstitution - Missense
SATL1ENSG00000184788ENST00000395409p.Y418Hc.1252T>CSubstitution - Missense
MED12ENSG00000184634ENST00000374080p.S981Pc.2941T>CSubstitution - Missense
MED12ENSG00000184634ENST00000374080p.S981Pc.2941T>CSubstitution - Missense
ACRCENSG00000147174ENST00000373695p.N132Nc.396C>TSubstitution - coding silent
XM_291321.3p.L406Lc.1218G>ASubstitution - coding silent
MAGEE1ENSG00000198934ENST00000361470p.P256Pc.768G>ASubstitution - coding silent
PHF8ENSG00000172943ENST00000357988p.L255Lc.763T>CSubstitution - coding silent
PHF8ENSG00000172943ENST00000338154p.L219Lc.655T>CSubstitution - coding silent
PHF8ENSG00000172943ENST00000322659p.L219Lc.655T>CSubstitution - coding silent
ZXDBENSG00000198455ENST00000374888p.T774Pc.2320A>CSubstitution - Missense
MTMR8ENSG00000102043ENST00000374852p.G303Sc.907G>ASubstitution - Missense
MTMR8ENSG00000102043ENST00000453546p.G303Sc.907G>ASubstitution - Missense
C9orf173ENSG00000197768ENST00000388931p.A304Ac.912G>ASubstitution - coding silent
NSMFENSG00000165802ENST00000371472p.V342Mc.1024G>ASubstitution - Missense
CLIC3ENSG00000169583ENST00000494426p.R204Hc.611G>ASubstitution - Missense
MLXIPLENSG00000009950ENST00000313375p.L613Lc.1837C>TSubstitution - coding silent
VKORC1L1ENSG00000196715ENST00000434382p.W55fs*2c.156delGDeletion - Frameshift
CUX1ENSG00000257923ENST00000292538p.G621Sc.1861G>ASubstitution - Missense
SLC26A5ENSG00000170615ENST00000393735p.I57fs*1c.169delADeletion - Frameshift
MUC12ENSG00000205277ENST00000536621p.V2878Ic.8632G>ASubstitution - Missense
POP7ENSG00000172336ENST00000303151p.Y70Hc.208T>CSubstitution - Missense
SRRTENSG00000087087ENST00000347433p.G105fs*15c.311_312insGInsertion - Frameshift
APOBEC2ENSG00000124701ENST00000244669p.A130Tc.388G>ASubstitution - Missense
OARD1ENSG00000124596ENST00000479950p.A42Tc.124G>ASubstitution - Missense
PEX6ENSG00000124587ENST00000304611p.S767Sc.2301C>TSubstitution - coding silent
MDGA1ENSG00000112139ENST00000297153p.I122Tc.365T>CSubstitution - Missense
MAPK14ENSG00000112062ENST00000229794p.?c.417+3A>GUnknown
FGD2ENSG00000146192ENST00000274963p.L300Lc.898C>TSubstitution - coding silent
ADCY2ENSG00000078295ENST00000537121p.K176Tc.527A>CSubstitution - Missense
SLC30A5ENSG00000145740ENST00000396591p.?c.535+1G>AUnknown
ENC1ENSG00000171617ENST00000302351p.F333Fc.999T>CSubstitution - coding silent
ZNF589ENSG00000164048ENST00000354698p.R311*c.931C>TSubstitution - Nonsense
SLC26A6ENSG00000225697ENST00000395550p.A348Tc.1042G>ASubstitution - Missense
KIF15ENSG00000163808ENST00000326047p.Q778Qc.2334G>ASubstitution - coding silent
CCDC13ENSG00000244607ENST00000310232p.A187Tc.559G>ASubstitution - Missense
A4GALTENSG00000128274ENST00000249005p.A231Ac.693G>CSubstitution - coding silent
PNPLA3ENSG00000100344ENST00000216180p.S223Lc.668C>TSubstitution - Missense
PARVBENSG00000188677ENST00000406477p.P233Pc.699T>CSubstitution - coding silent
COL6A6ENSG00000206384ENST00000358511p.T432Ic.1295C>TSubstitution - Missense
CENPMENSG00000100162ENST00000215980p.Y130Yc.390C>TSubstitution - coding silent
MCM2ENSG00000073111ENST00000265056p.R812Cc.2434C>TSubstitution - Missense
RUVBL1ENSG00000175792ENST00000322623p.S387Nc.1160G>ASubstitution - Missense
DNAJB8ENSG00000179407ENST00000469083p.A136Vc.407C>TSubstitution - Missense
ITGB5ENSG00000082781ENST00000296181p.A165Tc.493G>ASubstitution - Missense
PCBP1ENSG00000169564ENST00000303577p.L214Lc.642G>ASubstitution - coding silent
VPS54ENSG00000143952ENST00000272322p.R227Hc.680G>ASubstitution - Missense
ESPNLENSG00000144488ENST00000343063p.V326Mc.976G>ASubstitution - Missense
PSME4ENSG00000068878ENST00000404125p.D1834Nc.5500G>ASubstitution - Missense
ATG16L1ENSG00000085978ENST00000392017p.S439Sc.1317C>TSubstitution - coding silent
ENST00000334050p.S98Sc.294C>TSubstitution - coding silent
COL4A4ENSG00000081052ENST00000396625p.P1366Pc.4098G>ASubstitution - coding silent
GMPPAENSG00000144591ENST00000341142p.S298Sc.894G>ASubstitution - coding silent
STK11IPENSG00000144589ENST00000295641p.R439Hc.1316G>ASubstitution - Missense
STK11IPENSG00000144589ENST00000295641p.R439Hc.1316G>ASubstitution - Missense
ENST00000426736p.R404Hc.1211G>ASubstitution - Missense
ACTL7BENSG00000148156ENST00000374667p.A146Tc.436G>ASubstitution - Missense
MSANTD3ENSG00000066697ENST00000395067p.R47Hc.140G>ASubstitution - Missense
COL14A1ENSG00000187955ENST00000297848p.E631Kc.1891G>ASubstitution - Missense
ENST00000262365_v68p.G108Dc.323G>ASubstitution - Missense
BLKENSG00000136573ENST00000259089p.T270Tc.810G>ASubstitution - coding silent
UTP23ENSG00000147679ENST00000309822p.R226fs*11c.672_673insAInsertion - Frameshift
DSTENSG00000151914ENST00000370765p.G2371Wc.7111G>TSubstitution - Missense
DSTENSG00000151914ENST00000370765p.G2371Wc.7111G>TSubstitution - Missense
GPR6ENSG00000146360ENST00000275169p.A98Vc.293C>TSubstitution - Missense
GCATENSG00000100116ENST00000248924p.A212Tc.634G>ASubstitution - Missense
C22orf23ENSG00000128346ENST00000403305p.M51Ic.153G>ASubstitution - Missense
NFATC1ENSG00000131196ENST00000329101p.R260Wc.778C>TSubstitution - Missense
RALBP1ENSG00000017797ENST00000019317p.R43Lc.128G>TSubstitution - Missense
GRIN3BENSG00000116032ENST00000234389p.A757Ac.2271C>TSubstitution - coding silent
ZNF236ENSG00000130856ENST00000543926p.A260Ac.780C>TSubstitution - coding silent
ZNF236ENSG00000130856ENST00000253159p.?c.3055+5C>TUnknown
ZNF236ENSG00000130856ENST00000543926p.?c.3055+5C>TUnknown
PCDH19ENSG00000165194ENST00000373034p.A992Vc.2975C>TSubstitution - Missense
NM_020766.1p.A445Vc.1334C>TSubstitution - Missense
PCDH19ENSG00000165194ENST00000373034p.G610Sc.1828G>ASubstitution - Missense
NM_020766.1p.G111Sc.331G>ASubstitution - Missense
PCDH19ENSG00000165194ENST00000373034p.E609Ec.1827G>ASubstitution - coding silent
ASCC3ENSG00000112249ENST00000369143p.A2Tc.4G>ASubstitution - Missense
KAL1ENSG00000011201ENST00000262648p.G432Rc.1294G>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000373094p.E419Ec.1257G>ASubstitution - coding silent
PCDH11XENSG00000102290ENST00000395337p.E419Ec.1257G>ASubstitution - coding silent
GPR98ENSG00000164199ENST00000405460p.R4781Ic.14342G>TSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.T5348Ic.16043C>TSubstitution - Missense
KIAA0825ENSG00000185261ENST00000312498p.V709Ac.2126T>CSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.I1651Vc.4951A>GSubstitution - Missense
CSNK1G3ENSG00000151292ENST00000395411p.Y152Nc.454T>ASubstitution - Missense
ZCCHC4ENSG00000168228ENST00000302874p.T275Ac.823A>GSubstitution - Missense
GRIA2ENSG00000120251ENST00000296526p.G105Ec.314G>ASubstitution - Missense
TTC29ENSG00000137473ENST00000513335p.?c.72+5G>AUnknown
ZBTB38ENSG00000177311ENST00000514251p.C1015Cc.3045C>TSubstitution - coding silent
CLSTN2ENSG00000158258ENST00000458420p.L881Lc.2641C>TSubstitution - coding silent
DNAJC13ENSG00000138246ENST00000260818p.A1811Gc.5432C>GSubstitution - Missense
NPHP3ENSG00000113971ENST00000337331p.?c.1985+4C>TUnknown
GPR156ENSG00000175697ENST00000315843p.S356Nc.1067G>ASubstitution - Missense
TIGITENSG00000181847ENST00000383671p.R215Qc.644G>ASubstitution - Missense
LSAMPENSG00000185565ENST00000490035p.R89Cc.265C>TSubstitution - Missense
UPK1BENSG00000114638ENST00000264234p.T50Tc.150C>TSubstitution - coding silent
CD80ENSG00000121594ENST00000264246p.R5Qc.14G>ASubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.D3002Gc.9005A>GSubstitution - Missense
ENST00000451531_v68p.R136Hc.407G>ASubstitution - Missense
FBRSENSG00000156860ENST00000356166p.A701Tc.2101G>ASubstitution - Missense
NM_019085.1p.A438Tc.1312G>ASubstitution - Missense
UGGT1ENSG00000136731ENST00000259253p.F1021fs*1c.3059_3062delTATTDeletion - Frameshift
MVPENSG00000013364ENST00000395353p.S873Fc.2618C>TSubstitution - Missense
SEZ6L2ENSG00000174938ENST00000350527p.P580Lc.1739C>TSubstitution - Missense
SEZ6L2ENSG00000174938ENST00000308713p.A233Vc.698C>TSubstitution - Missense
SEZ6L2ENSG00000174938ENST00000350527p.A163Vc.488C>TSubstitution - Missense
TAOK2ENSG00000149930ENST00000279394p.?c.1789-6G>AUnknown
FAM57BENSG00000149926ENST00000380495p.T118Mc.353C>TSubstitution - Missense
EHD2ENSG00000024422ENST00000263277p.P172Pc.516G>ASubstitution - coding silent
GLTSCR2ENSG00000105373ENST00000246802p.?c.1430+1G>AUnknown
DACT3ENSG00000197380ENST00000391916p.L623Lc.1869C>ASubstitution - coding silent
DACT3ENSG00000197380ENST00000391916p.L623Lc.1869C>ASubstitution - coding silent
DACT3ENSG00000197380ENST00000391916p.R617Sc.1849C>ASubstitution - Missense
DACT3ENSG00000197380ENST00000300875p.R392Sc.1174C>ASubstitution - Missense
PRKD2ENSG00000105287ENST00000291281p.A523Tc.1567G>ASubstitution - Missense
DHX34ENSG00000134815ENST00000328771p.T644Tc.1932G>ASubstitution - coding silent
TICAM1ENSG00000127666ENST00000248244p.T665Tc.1995G>ASubstitution - coding silent
RSPH6AENSG00000104941ENST00000221538p.R610Hc.1829G>ASubstitution - Missense
IARSENSG00000196305ENST00000375643p.A1130Vc.3389C>TSubstitution - Missense
FRMD3ENSG00000172159ENST00000304195p.R563Hc.1688G>ASubstitution - Missense
AGPAT2ENSG00000169692ENST00000371696p.A35Ac.105G>ASubstitution - coding silent
FCN1ENSG00000085265ENST00000371806p.A13Vc.38C>TSubstitution - Missense
CAMSAP1ENSG00000130559ENST00000389532p.R1327Qc.3980G>ASubstitution - Missense
INPP5EENSG00000148384ENST00000371712p.R512Qc.1535G>ASubstitution - Missense
GBGT1ENSG00000148288ENST00000372040p.I111Tc.332T>CSubstitution - Missense
OBP2BENSG00000171102ENST00000372034p.S50Sc.150C>TSubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000354484p.V871Vc.2613G>ASubstitution - coding silent
GTF3C4ENSG00000125484ENST00000372146p.V345Ic.1033G>ASubstitution - Missense
TSC1ENSG00000165699ENST00000298552p.S840Sc.2520G>ASubstitution - coding silent
GTF3C5ENSG00000148308ENST00000372097p.E499_D500insEc.1470_1471insGAGInsertion - In frame
SH3RF2ENSG00000156463ENST00000359120p.P188Pc.564G>ASubstitution - coding silent
SPINK13ENSG00000214510ENST00000398450p.P47Pc.141T>CSubstitution - coding silent
FBXO38ENSG00000145868ENST00000340253p.R899Wc.2695C>TSubstitution - Missense
FCHSD1ENSG00000197948ENST00000435817p.A133Vc.398C>TSubstitution - Missense
PCDHGA4ENSG00000262576ENST00000571252p.R202Hc.605G>ASubstitution - Missense
PCDHGB3ENSG00000262209ENST00000576222p.S758Tc.2272T>ASubstitution - Missense
ENST00000576222_v68p.S758Tc.2272T>ASubstitution - Missense
PCDHGA6ENSG00000253731ENST00000517434p.V225Ic.673G>ASubstitution - Missense
PCDHGA10ENSG00000253846ENST00000398610p.V225Ic.673G>ASubstitution - Missense
PCDHGA7ENSG00000253537ENST00000518325p.A516Ac.1548G>ASubstitution - coding silent
PCDHGB4ENSG00000253953ENST00000519479p.A539Ac.1617G>ASubstitution - coding silent
ZMAT3ENSG00000172667ENST00000311417p.G244Gc.732C>TSubstitution - coding silent
TNIKENSG00000154310ENST00000436636p.R1085Qc.3254G>ASubstitution - Missense
ZNF565ENSG00000196357ENST00000304116p.V34Ac.101T>CSubstitution - Missense
NPHS1ENSG00000161270ENST00000378910p.A22Ac.66G>ASubstitution - coding silent
PIP5K1CENSG00000186111ENST00000335312p.R367Rc.1101C>GSubstitution - coding silent
ENST00000240343p.I83Ic.249C>TSubstitution - coding silent
MPOENSG00000005381ENST00000340482p.A396Ac.1188C>TSubstitution - coding silent
MPOENSG00000005381ENST00000225275p.L353Pc.1058T>CSubstitution - Missense
STXBP4ENSG00000166263ENST00000376352p.E166Gc.497A>GSubstitution - Missense
STXBP4ENSG00000166263ENST00000376352p.?c.498+7C>TUnknown
C17orf104ENSG00000180336ENST00000409122p.P185Pc.555A>GSubstitution - coding silent
FAM187AENSG00000214447ENST00000331733p.W346*c.1037G>ASubstitution - Nonsense
SLC4A1ENSG00000004939ENST00000262418p.R388Hc.1163G>ASubstitution - Missense
ATP6V0A1ENSG00000033627ENST00000343619p.?c.118-3C>TUnknown
KRT14ENSG00000186847ENST00000167586p.A127Vc.380C>TSubstitution - Missense
ACLYENSG00000131473ENST00000352035p.R127Rc.379C>ASubstitution - coding silent
CNPENSG00000173786ENST00000393892p.D123Nc.367G>ASubstitution - Missense
NM_033133.3p.D103Nc.307G>ASubstitution - Missense
THADAENSG00000115970ENST00000405975p.T456Tc.1368G>ASubstitution - coding silent
ABCG8ENSG00000143921ENST00000272286p.S222Nc.665G>ASubstitution - Missense
SLC3A1ENSG00000138079ENST00000260649p.M381Vc.1141A>GSubstitution - Missense
GPATCH11ENSG00000152133ENST00000409774p.S84Gc.250A>GSubstitution - Missense
ENST00000338839p.A268Vc.803C>TSubstitution - Missense
ENST00000338839p.R266Hc.797G>ASubstitution - Missense
NF1ENSG00000196712ENST00000358273p.R711Hc.2132G>ASubstitution - Missense
NF1ENSG00000196712ENST00000358273p.R711Hc.2132G>ASubstitution - Missense
MYO1DENSG00000176658ENST00000318217p.L304Fc.910C>TSubstitution - Missense
MDN1ENSG00000112159ENST00000369393p.T5126Tc.15378G>ASubstitution - coding silent
KLHL32ENSG00000186231ENST00000369261p.L124Lc.370C>TSubstitution - coding silent
MMS22LENSG00000146263ENST00000275053p.A712Vc.2135C>TSubstitution - Missense
ZNF292ENSG00000188994ENST00000369577p.N411Kc.1233T>ASubstitution - Missense
SPACA1ENSG00000118434ENST00000237201p.A63Tc.187G>ASubstitution - Missense
HTR1BENSG00000135312ENST00000369947p.A57Pc.169G>CSubstitution - Missense
ENPP3ENSG00000154269ENST00000357639p.C89Yc.266G>ASubstitution - Missense
SLC18B1ENSG00000146409ENST00000275227p.E220Kc.658G>ASubstitution - Missense
RSPO3ENSG00000146374ENST00000368317p.?c.437-3C>AUnknown
KIAA0408ENSG00000189367ENST00000483725p.T679Tc.2037T>CSubstitution - coding silent
ENST00000275189p.I529Tc.1586T>CSubstitution - Missense
FOXQ1ENSG00000164379ENST00000296839p.T115Tc.345G>ASubstitution - coding silent
MED23ENSG00000112282ENST00000354577p.E779Gc.2336A>GSubstitution - Missense
HIVEP1ENSG00000095951ENST00000379388p.Q1370Qc.4110G>ASubstitution - coding silent
VPS13BENSG00000132549ENST00000358544p.R510Rc.1530C>TSubstitution - coding silent
CCT6AENSG00000146731ENST00000275603p.?c.725+1G>AUnknown
POM121L12ENSG00000221900ENST00000408890p.L112Lc.336C>TSubstitution - coding silent
PKD1L1ENSG00000158683ENST00000289672p.A826Tc.2476G>ASubstitution - Missense
ENST00000319379p.A3578Vc.10733C>TSubstitution - Missense
PKD1L1ENSG00000158683ENST00000289672p.?c.6174+9A>CUnknown
ASIC3ENSG00000213199ENST00000357922p.S39Sc.117C>TSubstitution - coding silent
ASIC3ENSG00000213199ENST00000349064p.S39Sc.117C>TSubstitution - coding silent
ASIC3ENSG00000213199ENST00000357922p.P132Pc.396C>TSubstitution - coding silent
SLC4A2ENSG00000164889ENST00000485713p.S151Sc.453G>ASubstitution - coding silent
ARHGEF5ENSG00000050327ENST00000056217p.H1199Yc.3595C>TSubstitution - Missense
ZNF282ENSG00000170265ENST00000262085p.T351Mc.1052C>TSubstitution - Missense
ASZ1ENSG00000154438ENST00000284629p.G24Sc.70G>ASubstitution - Missense
CDHR3ENSG00000128536ENST00000317716p.P37Lc.110C>TSubstitution - Missense
CDHR3ENSG00000128536ENST00000317716p.K347Nc.1041G>TSubstitution - Missense
CDHR3ENSG00000128536ENST00000542731p.K347Nc.1041G>TSubstitution - Missense
LAMB1ENSG00000091136ENST00000222399p.L1433Pc.4298T>CSubstitution - Missense
LAMB1ENSG00000091136ENST00000222399p.I647Vc.1939A>GSubstitution - Missense
DDX39BENSG00000198563ENST00000449757p.Q95Qc.285G>ASubstitution - coding silent
DDX39BENSG00000198563ENST00000449074p.Q72Qc.216G>ASubstitution - coding silent
LY6G5CENSG00000204428ENST00000383237p.F127Fc.381C>TSubstitution - coding silent
KMT2EENSG00000005483ENST00000476671p.V585Ac.1754T>CSubstitution - Missense
ATXN7L1ENSG00000146776ENST00000419735p.P694Pc.2082C>TSubstitution - coding silent
ATXN7L1ENSG00000146776ENST00000388807p.P354Pc.1062C>TSubstitution - coding silent
HLA-CENSG00000204525ENST00000376228p.L102Pc.305T>CSubstitution - Missense
ENST00000539307p.L139Pc.416T>CSubstitution - Missense
ENST00000539307p.A33Sc.97G>TSubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.Q808Qc.2424G>ASubstitution - coding silent
OR2H1ENSG00000204688ENST00000377132p.L151Pc.452T>CSubstitution - Missense
HLA-FENSG00000204642ENST00000259951p.?c.335-10G>AUnknown
HLA-FENSG00000204642ENST00000259951p.G112Gc.336G>ASubstitution - coding silent
HLA-FENSG00000204642ENST00000376861p.G112Gc.336G>ASubstitution - coding silent
TRIM15ENSG00000204610ENST00000376694p.P22Lc.65C>TSubstitution - Missense
FAM134BENSG00000154153ENST00000399793p.N17Nc.51T>CSubstitution - coding silent
ENST00000377643p.V263Vc.789G>ASubstitution - coding silent
LARP1ENSG00000155506ENST00000336314p.V186Vc.558G>ASubstitution - coding silent
FNDC9ENSG00000172568ENST00000312349p.G212fs*>13c.635delGDeletion - Frameshift
PCDHGA3ENSG00000254245ENST00000253812p.V672Mc.2014G>ASubstitution - Missense
ARSIENSG00000183876ENST00000328668p.?c.312-3C>TUnknown
PCDHB3ENSG00000113205ENST00000231130p.A635Vc.1904C>TSubstitution - Missense
PCDHB6ENSG00000113211ENST00000231136p.A406Vc.1217C>TSubstitution - Missense
PCDHB15ENSG00000113248ENST00000231173p.A408Vc.1223C>TSubstitution - Missense
ENST00000505235p.C95Cc.285C>TSubstitution - coding silent
ENST00000502505_v68p.S5Lc.14C>TSubstitution - Missense
ENSG00000249034ENST00000502505p.S5Lc.14C>TSubstitution - Missense
PCDHA4ENSG00000204967ENST00000530339p.A731Tc.2191G>ASubstitution - Missense
PCDHA10ENSG00000250120ENST00000307360p.C95Cc.285C>TSubstitution - coding silent
PSD2ENSG00000146005ENST00000274710p.R134Rc.402G>ASubstitution - coding silent
BRD8ENSG00000112983ENST00000230901p.L271Lc.811C>TSubstitution - coding silent
CD99L2ENSG00000102181ENST00000370377p.R135Hc.404G>ASubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.T650Tc.1950G>ASubstitution - coding silent
HECW1ENSG00000002746ENST00000395891p.T650Tc.1950G>ASubstitution - coding silent
DBNLENSG00000136279ENST00000494774p.N90Nc.270C>TSubstitution - coding silent
POLMENSG00000122678ENST00000242248p.C180Yc.539G>ASubstitution - Missense
GPR112ENSG00000156920ENST00000394143p.N79Dc.235A>GSubstitution - Missense
ARHGEF6ENSG00000129675ENST00000250617p.G207Gc.621C>TSubstitution - coding silent
PDE1CENSG00000154678ENST00000396193p.L61Vc.181C>GSubstitution - Missense
BMPERENSG00000164619ENST00000297161p.C682Cc.2046T>CSubstitution - coding silent
NM_144685p.V224Ac.671T>CSubstitution - Missense
PRXENSG00000105227ENST00000324001p.V1225Mc.3673G>ASubstitution - Missense
EGLN2ENSG00000269858ENST00000303961p.G125Gc.375T>CSubstitution - coding silent
CYP2S1ENSG00000167600ENST00000310054p.A448Ac.1344G>ASubstitution - coding silent
RPS16ENSG00000105193ENST00000251453p.Y145Yc.435C>TSubstitution - coding silent
ENST00000248668_v71p.G145Ec.434G>ASubstitution - Missense
DAB2IPENSG00000136848ENST00000309989p.H730Yc.2188C>TSubstitution - Missense
OR1N2ENSG00000171501ENST00000373688p.M76Vc.226A>GSubstitution - Missense
COL27A1ENSG00000196739ENST00000356083p.G1246Gc.3738G>ASubstitution - coding silent
TNCENSG00000041982ENST00000350763p.D489Dc.1467C>TSubstitution - coding silent
ST3GAL1ENSG00000008513ENST00000319914p.R106Wc.316C>TSubstitution - Missense
FAM91A1ENSG00000176853ENST00000334705p.A168Ac.504G>ASubstitution - coding silent
UBR3ENSG00000144357ENST00000392632p.R155Hc.464G>ASubstitution - Missense
UBR3ENSG00000144357ENST00000418381p.R1302Hc.3905G>ASubstitution - Missense
TTC21BENSG00000123607ENST00000243344p.N417Sc.1250A>GSubstitution - Missense
C22orf43ENSG00000189269ENST00000317749p.L76Mc.226C>ASubstitution - Missense
UPB1ENSG00000100024ENST00000326010p.P219Pc.657C>TSubstitution - coding silent
SGSM1ENSG00000167037ENST00000400358p.K1085Kc.3255G>ASubstitution - coding silent
DPP6ENSG00000130226ENST00000377770p.R775Qc.2324G>ASubstitution - Missense
PAXIP1ENSG00000157212ENST00000404141p.?c.1074+9C>GUnknown
NM_017760.4p.S636Sc.1908T>CSubstitution - coding silent
TMEM184AENSG00000164855ENST00000297477p.Y100Yc.300C>TSubstitution - coding silent
WFS1ENSG00000109501ENST00000226760p.A719Vc.2156C>TSubstitution - Missense
KIAA1211ENSG00000109265ENST00000264229p.E218Kc.652G>ASubstitution - Missense
JAKMIP1ENSG00000152969ENST00000409021p.R137Rc.411C>TSubstitution - coding silent
JAKMIP1ENSG00000152969ENST00000282924p.R137Rc.411C>TSubstitution - coding silent
PKP4ENSG00000144283ENST00000389759p.?c.3010-7T>GUnknown
LY75ENSG00000054219ENST00000263636p.A1699Ac.5097G>ASubstitution - coding silent
PLA2R1ENSG00000153246ENST00000283243p.C1223Cc.3669C>TSubstitution - coding silent
PRPF40AENSG00000196504ENST00000410080p.R24Cc.70C>TSubstitution - Missense
RPRMENSG00000177519ENST00000325926p.T37Tc.111C>TSubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.I208Vc.622A>GSubstitution - Missense
ZEB2ENSG00000169554ENST00000303660p.M476fs*11c.1426delADeletion - Frameshift
ENST00000334436p.?c.2476+4C>TUnknown
NEBENSG00000183091ENST00000427231p.A6231Vc.18692C>TSubstitution - Missense
NEBENSG00000183091ENST00000409198p.A4530Vc.13589C>TSubstitution - Missense
NEBENSG00000183091ENST00000397345p.P4093Lc.12278C>TSubstitution - Missense
NEBENSG00000183091ENST00000409198p.P3850Lc.11549C>TSubstitution - Missense
SLC12A5ENSG00000124140ENST00000243964p.G1108Gc.3324C>TSubstitution - coding silent
PREX1ENSG00000124126ENST00000371941p.K1217Kc.3651G>ASubstitution - coding silent
PREX1ENSG00000124126ENST00000396220p.K1217Kc.3651G>ASubstitution - coding silent
SEMG1ENSG00000124233ENST00000372781p.S312Rc.934A>CSubstitution - Missense
WFDC3ENSG00000124116ENST00000243938p.C194Yc.581G>ASubstitution - Missense
ZNF223ENSG00000178386ENST00000434772p.G76Gc.228G>ASubstitution - coding silent
ZNF112ENSG00000062370ENST00000337401p.T688Tc.2064G>ASubstitution - coding silent
ZNF112ENSG00000062370ENST00000337401p.T688Tc.2064G>ASubstitution - coding silent
ETHE1ENSG00000105755ENST00000292147p.D42Ac.125A>CSubstitution - Missense
XM_375550.2p.R526Hc.1577G>ASubstitution - Missense
CHAF1AENSG00000167670ENST00000301280p.T211Mc.632C>TSubstitution - Missense
CCDC94ENSG00000105248ENST00000262962p.D318Dc.954C>TSubstitution - coding silent
CICENSG00000079432ENST00000160740p.P1553Sc.4657C>TSubstitution - Missense
CPAMD8ENSG00000160111ENST00000291440p.V648Vc.1944T>CSubstitution - coding silent
ENST00000319396p.V200Mc.598G>ASubstitution - Missense
CYP4F22ENSG00000171954ENST00000269703p.R20Lc.59G>TSubstitution - Missense
GIPC1ENSG00000123159ENST00000393033p.G115Gc.345C>GSubstitution - coding silent
C19orf57ENSG00000132016ENST00000346736p.M336Vc.1006A>GSubstitution - Missense
CC2D1AENSG00000132024ENST00000318003p.P345fs*89c.1030delCDeletion - Frameshift
NPIPB5ENSG00000243716ENST00000424340p.A507Ac.1521G>CSubstitution - coding silent
USP31ENSG00000103404ENST00000219689p.L1015Vc.3043C>GSubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.S1074Tc.3220T>ASubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.E1073Ec.3219G>ASubstitution - coding silent
TATENSG00000198650ENST00000355962p.R27Gc.79A>GSubstitution - Missense
DHX38ENSG00000140829ENST00000268482p.D913Dc.2739C>TSubstitution - coding silent
EIF3EENSG00000104408ENST00000220849p.Y144fs*1c.432_435delCTCADeletion - Frameshift
ENY2ENSG00000120533ENST00000521688p.G58Gc.174A>GSubstitution - coding silent
ENST00000532298p.R187Hc.560G>ASubstitution - Missense
ENST00000532298_v68p.R187Hc.560G>ASubstitution - Missense
UBR5ENSG00000104517ENST00000520539p.N1773Nc.5319C>TSubstitution - coding silent
CTHRC1ENSG00000164932ENST00000330295p.K122Rc.365A>GSubstitution - Missense
CTHRC1ENSG00000164932ENST00000520337p.K108Rc.323A>GSubstitution - Missense
CNTN2ENSG00000184144ENST00000331830p.A247Tc.739G>ASubstitution - Missense
TDRD5ENSG00000162782ENST00000444136p.A70Vc.209C>TSubstitution - Missense
ENST00000318130_v70p.R721Cc.2161C>TSubstitution - Missense
UBR4ENSG00000127481ENST00000375267p.M154Ic.462G>ASubstitution - Missense
DCST1ENSG00000163357ENST00000368419p.L346Lc.1036C>TSubstitution - coding silent
MSTO1ENSG00000125459ENST00000538143p.R133Qc.398G>ASubstitution - Missense
IGSF9ENSG00000085552ENST00000368094p.S723Sc.2169G>ASubstitution - coding silent
IGSF9ENSG00000085552ENST00000368094p.A404Tc.1210G>ASubstitution - Missense
UBE4BENSG00000130939ENST00000377157p.L1039Lc.3115C>TSubstitution - coding silent
DENND2CENSG00000175984ENST00000393274p.R480Wc.1438C>TSubstitution - Missense
ENST00000458043_v65p.Y942Yc.2826C>TSubstitution - coding silent
GAS6ENSG00000183087ENST00000355761p.?c.304+4C>TUnknown
MRPS31ENSG00000102738ENST00000323563p.Q183Hc.549G>CSubstitution - Missense
ENST00000266544_v70p.I226Tc.677T>CSubstitution - Missense
LRIG3ENSG00000139263ENST00000379141p.S973Lc.2918C>TSubstitution - Missense
ENST00000458043_v65p.V922Ic.2764G>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000553158p.A804Tc.2410G>ASubstitution - Missense
PITPNM2ENSG00000090975ENST00000280562p.L604Vc.1810C>GSubstitution - Missense
EEF1GENSG00000254772ENST00000378019p.A71Tc.211G>ASubstitution - Missense
OR5M8ENSG00000181371ENST00000327216p.A105Tc.313G>ASubstitution - Missense
BDNFENSG00000176697ENST00000395986p.S60Sc.180C>TSubstitution - coding silent
PGRENSG00000082175ENST00000325455p.P69Tc.205C>ASubstitution - Missense
B3GAT1ENSG00000109956ENST00000537389p.?c.660+6G>AUnknown
ENST00000340134_v70p.E130Kc.388G>ASubstitution - Missense
TPH1ENSG00000129167ENST00000341556p.R207Qc.620G>ASubstitution - Missense
CAMK2GENSG00000148660ENST00000322635p.H115Nc.343C>ASubstitution - Missense
RASSF4ENSG00000107551ENST00000334940p.R175Wc.523C>TSubstitution - Missense
SYT15ENSG00000204176ENST00000374323p.P261Pc.783G>ASubstitution - coding silent
DIP2CENSG00000151240ENST00000423550p.R162Qc.485G>ASubstitution - Missense
TCF7L2ENSG00000148737ENST00000352065p.A355Tc.1063G>ASubstitution - Missense
NUDT5ENSG00000165609ENST00000378937p.A122Tc.364G>ASubstitution - Missense
BCCIPENSG00000107949ENST00000368759p.N69Nc.207T>CSubstitution - coding silent
FANK1ENSG00000203780ENST00000368691p.A117Dc.350C>ASubstitution - Missense
DOCK1ENSG00000150760ENST00000280333p.V497Vc.1491G>ASubstitution - coding silent
GUK1ENSG00000143774ENST00000366728p.S31Sc.93C>TSubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000553158p.T782Mc.2345C>TSubstitution - Missense
HNRNPUL1ENSG00000105323ENST00000378215p.T432Tc.1296C>TSubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000393061p.V980Vc.2940G>ASubstitution - coding silent
NEK8ENSG00000160602ENST00000268766p.*693fs?c.2070delCDeletion - Frameshift
MUC4ENSG00000145113ENST00000463781p.H3533Hc.10599C>TSubstitution - coding silent
ENST00000405167p.H3533Hc.10599C>TSubstitution - coding silent
SLC45A1ENSG00000162426ENST00000377479p.R301*c.901C>TSubstitution - Nonsense
NSMFENSG00000165802ENST00000371468p.V77Mc.229G>ASubstitution - Missense
SSUH2ENSG00000125046ENST00000544814p.C180Cc.540C>TSubstitution - coding silent
GCLCENSG00000001084ENST00000229416p.M101Vc.301A>GSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.R248Qc.743G>ASubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.C932Yc.2795G>ASubstitution - Missense
IP6K3ENSG00000161896ENST00000451316p.A102Ac.306G>ASubstitution - coding silent
B3GALT4ENSG00000235863ENST00000451237p.Q250Rc.749A>GSubstitution - Missense
ZBTB22ENSG00000236104ENST00000418724p.E336Kc.1006G>ASubstitution - Missense
NM_006622p.A21Ac.63G>ASubstitution - coding silent
ITGA2ENSG00000164171ENST00000296585p.A398Vc.1193C>TSubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.?c.5304-2A>GUnknown
NSD1ENSG00000165671ENST00000439151p.?c.5304-2A>GUnknown
LDB2ENSG00000169744ENST00000304523p.A345Vc.1034C>TSubstitution - Missense
FGF12ENSG00000114279ENST00000445105p.K4Nc.12A>TSubstitution - Missense
ATP13A5ENSG00000187527ENST00000342358p.K6Rc.17A>GSubstitution - Missense
ADIPOQENSG00000181092ENST00000320741p.G208Gc.624C>TSubstitution - coding silent
CLCN2ENSG00000114859ENST00000265593p.T714Tc.2142A>GSubstitution - coding silent
SLC25A25ENSG00000148339ENST00000432073p.D394Dc.1182C>TSubstitution - coding silent
PSMB7ENSG00000136930ENST00000259457p.T64Tc.192T>CSubstitution - coding silent
ZBTB34ENSG00000177125ENST00000373452p.P350Pc.1050C>TSubstitution - coding silent
CNTRLENSG00000119397ENST00000373855p.?c.4929+8T>CUnknown
GSNENSG00000148180ENST00000373818p.K277fs*50c.825delCDeletion - Frameshift
PDZRN3ENSG00000121440ENST00000535920p.S677Sc.2031C>TSubstitution - coding silent
FBXL2ENSG00000153558ENST00000446237p.R127Wc.379C>TSubstitution - Missense
UROC1ENSG00000159650ENST00000383579p.R280Cc.838C>TSubstitution - Missense
UROC1ENSG00000159650ENST00000290868p.R280Cc.838C>TSubstitution - Missense
GPR149ENSG00000174948ENST00000389740p.S543Sc.1629C>TSubstitution - coding silent
ENST00000393822_v70p.M121Vc.361A>GSubstitution - Missense
ANKMY1ENSG00000144504ENST00000405523p.L235Lc.703C>TSubstitution - coding silent
COL3A1ENSG00000168542ENST00000317840p.P581Pc.1743C>TSubstitution - coding silent
COBLL1ENSG00000082438ENST00000194871p.P352Lc.1055C>TSubstitution - Missense
ENST00000263817_v70p.R223Cc.667C>TSubstitution - Missense
UBR3ENSG00000144357ENST00000392631p.R123Hc.368G>ASubstitution - Missense
ITGA6ENSG00000091409ENST00000264106p.S325Nc.974G>ASubstitution - Missense
DEPDC5ENSG00000100150ENST00000400246p.V1360Mc.4078G>ASubstitution - Missense
C1QTNF6ENSG00000133466ENST00000255836p.W76*c.228G>ASubstitution - Nonsense
CACNA1IENSG00000100346ENST00000336649p.L54Rc.161T>GSubstitution - Missense
CACNA1IENSG00000100346ENST00000400164p.L54Rc.161T>GSubstitution - Missense
PPP6R2ENSG00000100239ENST00000216061p.A299Tc.895G>ASubstitution - Missense
NFATC2ENSG00000101096ENST00000371564p.A170Tc.508G>ASubstitution - Missense
ZBP1ENSG00000124256ENST00000343535p.V127Dc.380T>ASubstitution - Missense
OSBPL2ENSG00000130703ENST00000439951p.P327Lc.980C>TSubstitution - Missense
COL20A1ENSG00000101203ENST00000422202p.A1032Vc.3095C>TSubstitution - Missense
SLC52A3ENSG00000101276ENST00000381944p.G162Sc.484G>ASubstitution - Missense
TTLL9ENSG00000131044ENST00000375922p.R182Hc.545G>ASubstitution - Missense
ASXL1ENSG00000171456ENST00000306058p.Q32*c.94C>TSubstitution - Nonsense
NLRP7ENSG00000167634ENST00000446217p.A448Ac.1344G>ASubstitution - coding silent
NLRP7ENSG00000167634ENST00000446217p.D284Vc.851A>TSubstitution - Missense
EML2ENSG00000125746ENST00000536630p.A435Ac.1305G>ASubstitution - coding silent
FZR1ENSG00000105325ENST00000395095p.S487Fc.1460C>TSubstitution - Missense
KANK2ENSG00000197256ENST00000432929p.A299Ac.897G>ASubstitution - coding silent
KANK2ENSG00000197256ENST00000432929p.T127Tc.381G>ASubstitution - coding silent
UNC13AENSG00000130477ENST00000252773p.R634Wc.1900C>TSubstitution - Missense
DTNAENSG00000134769ENST00000269191p.A468Vc.1403C>TSubstitution - Missense
DTNAENSG00000134769ENST00000269191p.R494Wc.1480C>TSubstitution - Missense
HMHA1ENSG00000180448ENST00000536472p.R672Cc.2014C>TSubstitution - Missense
ENTHD2ENSG00000167302ENST00000374769p.M1Ic.3G>ASubstitution - Missense
HIC1ENSG00000177374ENST00000322941p.A92Ac.276C>TSubstitution - coding silent
SEZ6ENSG00000063015ENST00000360295p.A449Tc.1345G>ASubstitution - Missense
CHST5ENSG00000135702ENST00000541075p.R68Cc.202C>TSubstitution - Missense
RBFOX1ENSG00000078328ENST00000547372p.T114Tc.342G>ASubstitution - coding silent
RBFOX1ENSG00000078328ENST00000547372p.T123Mc.368C>TSubstitution - Missense
BAIAP3ENSG00000007516ENST00000397488p.D326Nc.976G>ASubstitution - Missense
ACSM2BENSG00000066813ENST00000414188p.R108Hc.323G>ASubstitution - Missense
OTOAENSG00000155719ENST00000286149p.S224Sc.672G>ASubstitution - coding silent
CLN3ENSG00000188603ENST00000354630p.R324Hc.971G>ASubstitution - Missense
ZSCAN32ENSG00000140987ENST00000396852p.E377Ac.1130A>CSubstitution - Missense
PIGBENSG00000069943ENST00000164305p.P460Lc.1379C>TSubstitution - Missense
DPP8ENSG00000074603ENST00000341861p.R215Qc.644G>ASubstitution - Missense
NR2F2ENSG00000185551ENST00000421109p.?c.44-4G>AUnknown
NR2F2ENSG00000185551ENST00000421109p.S43Pc.127T>CSubstitution - Missense
GOLGA8HENSG00000261794ENST00000566740p.?c.592-3C>TUnknown
ODF2LENSG00000122417ENST00000359242p.A57Ac.171G>ASubstitution - coding silent
PIK3CDENSG00000171608ENST00000536656p.C147Cc.441C>TSubstitution - coding silent
ENST00000392554_v70p.P201Pc.603C>TSubstitution - coding silent
MRPS15ENSG00000116898ENST00000373116p.?c.636+4C>TUnknown
EPHA10ENSG00000183317ENST00000319637p.A213Tc.637G>ASubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.R805Qc.2414G>ASubstitution - Missense
MMEL1ENSG00000142606ENST00000378412p.T170Mc.509C>TSubstitution - Missense
USH2AENSG00000042781ENST00000366942p.Q492Pc.1475A>CSubstitution - Missense
RAP1GAPENSG00000076864ENST00000542643p.A581Tc.1741G>ASubstitution - Missense
ITPKBENSG00000143772ENST00000366784p.G434Rc.1300G>ASubstitution - Missense
CDC42BPAENSG00000143776ENST00000366765p.S1719Ic.5156G>TSubstitution - Missense
GUK1ENSG00000143774ENST00000366728p.G51Sc.151G>ASubstitution - Missense
GUK1ENSG00000143774ENST00000366722p.G30Sc.88G>ASubstitution - Missense
SIPA1L2ENSG00000116991ENST00000308942p.E21Kc.61G>ASubstitution - Missense
ENST00000237275_v68p.A132Tc.394G>ASubstitution - Missense
ZNF750ENSG00000141579ENST00000269394p.A501Vc.1502C>TSubstitution - Missense
ARL14ENSG00000179674ENST00000320767p.A187Ac.561G>ASubstitution - coding silent
B4GALT3ENSG00000158850ENST00000367998p.H194Yc.580C>TSubstitution - Missense
PCDH11XENSG00000102290ENST00000361724p.E419Ec.1257G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.R175Hc.524G>ASubstitution - Missense
ATP11CENSG00000101974ENST00000370543p.K837Tc.2510A>CSubstitution - Missense
PLXNB3ENSG00000198753ENST00000538282p.V234Ic.700G>ASubstitution - Missense
GATA1ENSG00000102145ENST00000376665p.R140Wc.418C>TSubstitution - Missense
ARHGEF9ENSG00000131089ENST00000374878p.Y330Yc.990C>TSubstitution - coding silent
KIF4AENSG00000090889ENST00000374388p.R722Wc.2164C>TSubstitution - Missense
TAF1ENSG00000147133ENST00000449580p.G4Sc.10G>ASubstitution - Missense
ARHGAP6ENSG00000047648ENST00000380718p.T545Sc.1634C>GSubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.S971Lc.2912C>TSubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.Q492Rc.1475A>GSubstitution - Missense
NFX1ENSG00000086102ENST00000318524p.G534Sc.1600G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.H656Hc.1968C>TSubstitution - coding silent
TMEM210ENSG00000185863ENST00000413619p.M131Ic.393G>ASubstitution - Missense
PSMB7ENSG00000136930ENST00000441097p.T64Tc.192T>CSubstitution - coding silent
NUP214ENSG00000126883ENST00000451030p.?c.592+8A>GUnknown
ZFHX4ENSG00000091656ENST00000050961p.P2882Lc.8645C>TSubstitution - Missense
PLECENSG00000178209ENST00000356346p.R1497Qc.4490G>ASubstitution - Missense
ADRA1AENSG00000120907ENST00000358857p.A189Ac.567G>ASubstitution - coding silent
ADAP1ENSG00000105963ENST00000539900p.T340Tc.1020G>ASubstitution - coding silent
PTCD1ENSG00000106246ENST00000555673p.P173Pc.519G>ASubstitution - coding silent
DBNLENSG00000136279ENST00000468694p.N90Nc.270C>TSubstitution - coding silent
COBLENSG00000106078ENST00000395542p.R325Cc.973C>TSubstitution - Missense
UBN2ENSG00000157741ENST00000473989p.?c.1830-6G>AUnknown
DGKBENSG00000136267ENST00000258767p.?c.1930-9A>GUnknown
ENST00000328843_v70p.P525Pc.1575A>GSubstitution - coding silent
CDHR3ENSG00000128536ENST00000343407p.K64Nc.192G>TSubstitution - Missense
LAMB1ENSG00000091136ENST00000222399p.V1436Vc.4308T>ASubstitution - coding silent
MCM3ENSG00000112118ENST00000596288p.R279Qc.836G>ASubstitution - Missense
KLHL32ENSG00000186231ENST00000447886p.L20Lc.58C>TSubstitution - coding silent
SLC17A2ENSG00000112337ENST00000377850p.R17Cc.49C>TSubstitution - Missense
ENST00000354576p.R89Rc.267C>GSubstitution - coding silent
TRIM15ENSG00000204610ENST00000376688p.P22Lc.65C>TSubstitution - Missense
DDX39BENSG00000198563ENST00000417556p.Q72Qc.216G>ASubstitution - coding silent
DACT2ENSG00000164488ENST00000366796p.S201Sc.603C>TSubstitution - coding silent
MED23ENSG00000112282ENST00000403834p.E779Gc.2336A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.S8352Ic.25055G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.S8012Ic.24035G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.R7084*c.21250C>TSubstitution - Nonsense
SYNE1ENSG00000131018ENST00000341594p.R6767*c.20299C>TSubstitution - Nonsense
BRD9ENSG00000028310ENST00000467963p.?c.1383+6C>TUnknown
GPR6ENSG00000146360ENST00000414000p.A275Vc.824C>TSubstitution - Missense
PCDHAC1ENSG00000248383ENST00000409700p.R56Hc.167G>ASubstitution - Missense
ZNF112ENSG00000062370ENST00000536500p.T705Tc.2115G>ASubstitution - coding silent
GSNENSG00000148180ENST00000436847p.K237fs*50c.705delCDeletion - Frameshift
ENST00000421660p.I1025_S1026>Tc.3074_3076delTCTComplex - deletion inframe
KIAA0226ENSG00000145016ENST00000389665p.?c.2056-10_2056-1>TUnknown
NEK8ENSG00000160602ENST00000268766p.L325fs*37c.968delCDeletion - Frameshift
ZNF181ENSG00000197841ENST00000392232p.K113fs*6c.334delADeletion - Frameshift
HKR1ENSG00000181666ENST00000392153p.N272fs*26c.811delADeletion - Frameshift
ATF7IPENSG00000171681ENST00000543189p.D506fs*16c.1511delADeletion - Frameshift
USP15ENSG00000135655ENST00000393654p.K758fs*4c.2269delADeletion - Frameshift
DLEU7ENSG00000186047ENST00000504404p.A98fs*58c.284_285insGInsertion - Frameshift
PPA2ENSG00000138777ENST00000357415p.S328Lc.983C>TSubstitution - Missense
TRPC3ENSG00000138741ENST00000264811p.T155Tc.465G>ASubstitution - coding silent
CSPG5ENSG00000114646ENST00000383738p.T112Tc.336C>TSubstitution - coding silent
SLC26A6ENSG00000225697ENST00000383733p.A348Tc.1042G>ASubstitution - Missense
IFRD2ENSG00000214706ENST00000336089p.R601Qc.1802G>ASubstitution - Missense
ITIH4ENSG00000055955ENST00000346281p.R680Hc.2039G>ASubstitution - Missense
PDZRN3ENSG00000121440ENST00000263666p.S955Sc.2865C>TSubstitution - coding silent
ZBED4ENSG00000100426ENST00000216268p.V179Mc.535G>ASubstitution - Missense
L3MBTL4ENSG00000154655ENST00000400105p.N173Nc.519T>CSubstitution - coding silent
DTX3LENSG00000163840ENST00000296161p.A126Vc.377C>TSubstitution - Missense
VPS54ENSG00000143952ENST00000272322p.M912Vc.2734A>GSubstitution - Missense
ENST00000287468_v65p.Q71*c.211C>TSubstitution - Nonsense
SUN1ENSG00000164828ENST00000389574p.T71Ac.211A>GSubstitution - Missense
TRADDENSG00000102871ENST00000345057p.G227Sc.679G>ASubstitution - Missense
CTCFENSG00000102974ENST00000264010p.?c.781+2T>CUnknown
ITGA9ENSG00000144668ENST00000264741p.R285Kc.854G>ASubstitution - Missense
CAPN15ENSG00000103326ENST00000219611p.S524Sc.1572C>TSubstitution - coding silent
WDFY3ENSG00000163625ENST00000295888p.R2829Hc.8486G>ASubstitution - Missense
WHSC1L1ENSG00000147548ENST00000316985p.A458Ac.1374G>ASubstitution - coding silent
ARFRP1ENSG00000101246ENST00000217224p.P8fs*7c.21delCDeletion - Frameshift
SMTNENSG00000183963ENST00000333137p.S379Sc.1137C>TSubstitution - coding silent
COL9A3ENSG00000092758ENST00000343916p.G145Rc.433G>ASubstitution - Missense
DIP2AENSG00000160305ENST00000457905p.A758Ac.2274G>ASubstitution - coding silent
ENST00000356127p.A29417Ac.88251C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.A23114Ac.69342C>TSubstitution - coding silent
AKR1D1ENSG00000122787ENST00000242375p.R9Cc.25C>TSubstitution - Missense
SLC13A2ENSG00000007216ENST00000314669p.L94fs*14c.279_280insGInsertion - Frameshift
KANK2ENSG00000197256ENST00000355150p.A299Ac.897G>ASubstitution - coding silent
DSG3ENSG00000134757ENST00000257189p.?c.49-3C>TUnknown
ADRA1AENSG00000120907ENST00000380582p.A189Ac.567G>ASubstitution - coding silent
ENST00000300671p.?c.918+10C>TUnknown
ZNFX1ENSG00000124201ENST00000371754p.S1145Sc.3435G>ASubstitution - coding silent
HCN2ENSG00000099822ENST00000251287p.E436Ec.1308G>ASubstitution - coding silent
C3ENSG00000125730ENST00000245907p.L1319Lc.3957G>ASubstitution - coding silent
TLR7ENSG00000196664ENST00000380659p.W1015Cc.3045G>TSubstitution - Missense
ATP1B2ENSG00000129244ENST00000250111p.R76Qc.227G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T6282Ac.18844A>GSubstitution - Missense
ENST00000331986p.T1915Ac.5743A>GSubstitution - Missense
ZMYND15ENSG00000141497ENST00000269289p.R421delRc.1260_1263CCGA>GDeletion - In frame
ZRANB2ENSG00000132485ENST00000370920p.R201Qc.602G>ASubstitution - Missense
SMPDL3BENSG00000130768ENST00000373894p.H266Yc.796C>TSubstitution - Missense
SLC15A4ENSG00000139370ENST00000266771p.N528Nc.1584C>TSubstitution - coding silent
NOTCH2NLENSG00000213240ENST00000362074p.R33Hc.98G>ASubstitution - Missense
C1orf127ENSG00000175262ENST00000377008p.P386Pc.1158C>TSubstitution - coding silent
GRIN2AENSG00000183454ENST00000396573p.T249Tc.747C>TSubstitution - coding silent
NM_000926.2p.P69Tc.205C>ASubstitution - Missense
SMPD1ENSG00000166311ENST00000342245p.H511Hc.1533C>TSubstitution - coding silent
SCYL1ENSG00000142186ENST00000270176p.A54Tc.160G>ASubstitution - Missense
JMJD1CENSG00000171988ENST00000402544p.Q621Qc.1863G>ASubstitution - coding silent
GPR83ENSG00000123901ENST00000243673p.A191Tc.571G>ASubstitution - Missense
GOLGA3ENSG00000090615ENST00000456883p.S476Sc.1428G>ASubstitution - coding silent
ENST00000349637p.T4192Mc.12575C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.A6570Ac.19710G>ASubstitution - coding silent
ENST00000412131p.D1775Ac.5324A>CSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.I659Mc.1977A>GSubstitution - Missense
ARFIP2ENSG00000132254ENST00000396777p.Y104Cc.311A>GSubstitution - Missense
COL4A2ENSG00000134871ENST00000360467p.G1046Sc.3136G>ASubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.R413Wc.1237C>TSubstitution - Missense
SLC5A4ENSG00000100191ENST00000266086p.A417Vc.1250C>TSubstitution - Missense
PCDHAC1ENSG00000248383ENST00000253807p.R56Hc.167G>ASubstitution - Missense
SCAPENSG00000114650ENST00000265565p.G406Sc.1216G>ASubstitution - Missense
CEP97ENSG00000182504ENST00000341893p.R570Qc.1709G>ASubstitution - Missense
GPR6ENSG00000146360ENST00000275169p.A260Vc.779C>TSubstitution - Missense
OR1B1ENSG00000171484ENST00000304833p.L38Pc.113T>CSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.R175Hc.524G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.S8400Ic.25199G>TSubstitution - Missense
C1QL3ENSG00000165985ENST00000298943p.R135Wc.403C>TSubstitution - Missense
NPC1L1ENSG00000015520ENST00000289547p.R693Hc.2078G>ASubstitution - Missense
ENST00000377560_v62p.S3796Nc.11387G>ASubstitution - Missense
MYCBP2ENSG00000005810ENST00000407578p.V261Ic.781G>ASubstitution - Missense
FN1ENSG00000115414ENST00000336916p.R1634Hc.4901G>ASubstitution - Missense
SLC47A1ENSG00000142494ENST00000270570p.L185Qc.554T>ASubstitution - Missense
SLC35B4ENSG00000205060ENST00000378509p.T75Tc.225C>TSubstitution - coding silent
TKTENSG00000163931ENST00000462138p.?c.1396-8G>AUnknown
TNKSENSG00000173273ENST00000310430p.R683Rc.2049G>ASubstitution - coding silent
ZNF217ENSG00000171940ENST00000371471p.Q931Qc.2793G>ASubstitution - coding silent
PXDNLENSG00000147485ENST00000356297p.Q88Qc.264G>ASubstitution - coding silent
NXF2BENSG00000185945ENST00000372750p.A619Vc.1856C>TSubstitution - Missense
FZD5ENSG00000163251ENST00000295417p.T416Tc.1248G>ASubstitution - coding silent
SLC25A29ENSG00000197119ENST00000359232p.G15Gc.45C>TSubstitution - coding silent
ABCA4ENSG00000198691ENST00000370225p.S1518Nc.4553G>ASubstitution - Missense
TPM1ENSG00000140416ENST00000267996p.L185Ic.553C>ASubstitution - Missense
RBFOX1ENSG00000078328ENST00000311745p.T91Tc.273G>ASubstitution - coding silent
FYBENSG00000082074ENST00000512982p.K373Ec.1117A>GSubstitution - Missense
ALG10BENSG00000175548ENST00000308742p.M242Tc.725T>CSubstitution - Missense
HIP1RENSG00000130787ENST00000253083p.P310Pc.930G>ASubstitution - coding silent
WACENSG00000095787ENST00000354911p.D211Nc.631G>ASubstitution - Missense
THEM4ENSG00000159445ENST00000368814p.I160Tc.479T>CSubstitution - Missense
EHD4ENSG00000103966ENST00000220325p.T407Tc.1221G>ASubstitution - coding silent
UNKLENSG00000059145ENST00000389221p.P298Pc.894G>ASubstitution - coding silent
IGSF9ENSG00000085552ENST00000361509p.S707Sc.2121G>ASubstitution - coding silent
MAU2ENSG00000129933ENST00000392313p.D447Nc.1339G>ASubstitution - Missense
DDIT4ENSG00000168209ENST00000307365p.L118Lc.352C>TSubstitution - coding silent
MAML2ENSG00000184384ENST00000524717p.G254Rc.760G>CSubstitution - Missense
NOS1APENSG00000198929ENST00000493151p.G155Gc.465C>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.R807Qc.2420G>ASubstitution - Missense
PAX2ENSG00000075891ENST00000428433p.H62Hc.186C>TSubstitution - coding silent
RAP1GAPENSG00000076864ENST00000374761p.A586Tc.1756G>ASubstitution - Missense
KRT73ENSG00000186049ENST00000305748p.?c.662+6C>TUnknown
ING1ENSG00000153487ENST00000375774p.R211Wc.631C>TSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.R164Kc.491G>ASubstitution - Missense
DTNAENSG00000134769ENST00000269190p.R495Wc.1483C>TSubstitution - Missense
SHROOM2ENSG00000146950ENST00000380913p.R1508Cc.4522C>TSubstitution - Missense
PGM2L1ENSG00000165434ENST00000298198p.R178Cc.532C>TSubstitution - Missense
DIS3LENSG00000166938ENST00000319212p.D804fs*3c.2412delTDeletion - Frameshift
MOCS1ENSG00000124615ENST00000340692p.R222Qc.665G>ASubstitution - Missense
GOPCENSG00000047932ENST00000368498p.G5Dc.14G>ASubstitution - Missense
ABCB5ENSG00000004846ENST00000258738p.T107Mc.320C>TSubstitution - Missense
STON1ENSG00000243244ENST00000309835p.P575Ac.1723C>GSubstitution - Missense
ATP6V1B1ENSG00000116039ENST00000234396p.R56Wc.166C>TSubstitution - Missense
OLFM4ENSG00000102837ENST00000219022p.Y334Cc.1001A>GSubstitution - Missense
KRASENSG00000133703ENST00000256078p.G12Dc.35G>ASubstitution - Missense
CDH12ENSG00000154162ENST00000382254p.T370Mc.1109C>TSubstitution - Missense
ADRA1AENSG00000120907ENST00000380572p.A189Ac.567G>ASubstitution - coding silent
EPHB6ENSG00000106123ENST00000392957p.T505Tc.1515G>ASubstitution - coding silent
ENST00000310397_v70p.T564Tc.1692C>TSubstitution - coding silent
HSPB9ENSG00000197723ENST00000355067p.V101Lc.301G>CSubstitution - Missense
DSPENSG00000096696ENST00000379802p.D614Nc.1840G>ASubstitution - Missense
MYH14ENSG00000105357ENST00000440075p.E1309Dc.3927G>CSubstitution - Missense
PITRM1ENSG00000107959ENST00000455371p.G84fs*27c.249delADeletion - Frameshift
IL17REENSG00000163701ENST00000421412p.R126Wc.376C>TSubstitution - Missense
SLC5A10ENSG00000154025ENST00000317977p.C196Cc.588C>TSubstitution - coding silent
ZC3H13ENSG00000123200ENST00000242848p.R493Hc.1478G>ASubstitution - Missense
GUK1ENSG00000143774ENST00000366721p.S10Sc.30C>TSubstitution - coding silent
CDK5RAP2ENSG00000136861ENST00000349780p.I1467Ic.4401T>CSubstitution - coding silent
OR10H5ENSG00000172519ENST00000308940p.V200Vc.600G>ASubstitution - coding silent
GTPBP3ENSG00000130299ENST00000358792p.?c.1071-4G>AUnknown
KIAA1671ENSG00000197077ENST00000358431p.T288Mc.863C>TSubstitution - Missense
ENST00000502505_v70p.S5Lc.14C>TSubstitution - Missense
ZNF786ENSG00000197362ENST00000491431p.T671Mc.2012C>TSubstitution - Missense
PCDHA4ENSG00000204967ENST00000356878p.A731Tc.2191G>ASubstitution - Missense
ENST00000325845p.R155Hc.464G>ASubstitution - Missense
FCHSD1ENSG00000197948ENST00000435817p.D641Dc.1923T>CSubstitution - coding silent
FOXQ1ENSG00000164379ENST00000296839p.R133Rc.399C>TSubstitution - coding silent
CYB5R4ENSG00000065615ENST00000369681p.G31Dc.92G>ASubstitution - Missense
NR3C1ENSG00000113580ENST00000231509p.L754Fc.2262A>TSubstitution - Missense
KCTD21ENSG00000188997ENST00000340067p.G10Rc.28G>ASubstitution - Missense
SLC17A2ENSG00000112337ENST00000360488p.R17Cc.49C>TSubstitution - Missense
ZNF536ENSG00000198597ENST00000355537p.R138Cc.412C>TSubstitution - Missense
WNK1ENSG00000060237ENST00000537687p.R348Hc.1043G>ASubstitution - Missense
SLX4ENSG00000188827ENST00000294008p.G700Rc.2098G>ASubstitution - Missense
MRPS14ENSG00000120333ENST00000476371p.H113Yc.337C>TSubstitution - Missense
PLD3ENSG00000105223ENST00000359274p.R371Cc.1111C>TSubstitution - Missense
NLRP12ENSG00000142405ENST00000345770p.Q600*c.1798C>TSubstitution - Nonsense
SLC4A5ENSG00000188687ENST00000377634p.R1016Wc.3046C>TSubstitution - Missense
BTG3ENSG00000154640ENST00000348354p.D141Gc.422A>GSubstitution - Missense
LAMB1ENSG00000091136ENST00000222399p.R152*c.454C>TSubstitution - Nonsense
TCF7L2ENSG00000148737ENST00000355717p.A402Tc.1204G>ASubstitution - Missense
ENST00000417442p.R184Wc.550C>TSubstitution - Missense
ENST00000377560_v62p.T3206Mc.9617C>TSubstitution - Missense
ACSM2BENSG00000066813ENST00000329697p.R108Hc.323G>ASubstitution - Missense
ENST00000369584p.A140Vc.419C>TSubstitution - Missense
HIC2ENSG00000169635ENST00000407464p.A270Tc.808G>ASubstitution - Missense
OBSL1ENSG00000124006ENST00000404537p.G1643Gc.4929C>TSubstitution - coding silent
SLC35D2ENSG00000130958ENST00000253270p.G203Rc.607G>ASubstitution - Missense
LAMB4ENSG00000091128ENST00000388780p.?c.1180+10C>TUnknown
HERC5ENSG00000138646ENST00000264350p.A1012Ac.3036G>ASubstitution - coding silent
FBXW10ENSG00000171931ENST00000308799p.R890Qc.2669G>ASubstitution - Missense
TPM1ENSG00000140416ENST00000403994p.L185Ic.553C>ASubstitution - Missense
MB21D2ENSG00000180611ENST00000392452p.S294Sc.882C>TSubstitution - coding silent
PWWP2BENSG00000171813ENST00000368609p.D288Dc.864C>TSubstitution - coding silent
SMOXENSG00000088826ENST00000278795p.R500Hc.1499G>ASubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.R43Qc.128G>ASubstitution - Missense
IFT52ENSG00000101052ENST00000373039p.T359Mc.1076C>TSubstitution - Missense
NPIPB5ENSG00000243716ENST00000424340p.A507Ac.1521G>CSubstitution - coding silent
CDHR3ENSG00000128536ENST00000317716p.K347Nc.1041G>TSubstitution - Missense
VPS13BENSG00000132549ENST00000357162p.R510Rc.1530C>TSubstitution - coding silent
SIPA1L3ENSG00000105738ENST00000222345p.R502Cc.1504C>TSubstitution - Missense
ENST00000305759p.C96Cc.288C>TSubstitution - coding silent
PCDHB8ENSG00000120322ENST00000239444p.F780Sc.2339T>CSubstitution - Missense
FCHSD1ENSG00000197948ENST00000435817p.P532Sc.1594C>TSubstitution - Missense
CA4ENSG00000167434ENST00000300900p.L205Lc.615G>ASubstitution - coding silent
CACNA1IENSG00000100346ENST00000404898p.L54Rc.161T>GSubstitution - Missense
MSANTD3ENSG00000066697ENST00000374885p.R47Hc.140G>ASubstitution - Missense
TMEM171ENSG00000157111ENST00000287773p.V18Ic.52G>ASubstitution - Missense
PIK3CBENSG00000051382ENST00000477593p.R668Qc.2003G>ASubstitution - Missense
KPNA1ENSG00000114030ENST00000344337p.D498Gc.1493A>GSubstitution - Missense
WDPCPENSG00000143951ENST00000272321p.F5Cc.14T>GSubstitution - Missense
SRRM2ENSG00000167978ENST00000301740p.R2129Cc.6385C>TSubstitution - Missense
POTEIENSG00000196834ENST00000451531p.R136Hc.407G>ASubstitution - Missense
ZFAND2BENSG00000158552ENST00000444522p.?c.150+10C>TUnknown
REPS1ENSG00000135597ENST00000258062p.S73Sc.219G>ASubstitution - coding silent
UTRNENSG00000152818ENST00000367545p.R1833Hc.5498G>ASubstitution - Missense
RPS6KA2ENSG00000071242ENST00000265678p.T325Tc.975G>ASubstitution - coding silent
RPS6KA2ENSG00000071242ENST00000510118p.T350Tc.1050G>ASubstitution - coding silent
IRAK1ENSG00000184216ENST00000369980p.T234Tc.702G>ASubstitution - coding silent
ZIC1ENSG00000152977ENST00000282928p.S347Sc.1041C>TSubstitution - coding silent
CENPEENSG00000138778ENST00000265148p.T174Tc.522A>GSubstitution - coding silent
PDE11AENSG00000128655ENST00000286063p.L706Lc.2118C>TSubstitution - coding silent
ENST00000356127p.A12137Tc.36409G>ASubstitution - Missense
AXIN1ENSG00000103126ENST00000262320p.G265fs*149c.792delCDeletion - Frameshift
GRIN2AENSG00000183454ENST00000396573p.F1344Lc.4030T>CSubstitution - Missense
MST1RENSG00000164078ENST00000296474p.G357Sc.1069G>ASubstitution - Missense
ENST00000273600p.R2124Hc.6371G>ASubstitution - Missense
ADAP1ENSG00000105963ENST00000265846p.T329Tc.987G>ASubstitution - coding silent
SLC39A4ENSG00000147804ENST00000276833p.L105Lc.315C>TSubstitution - coding silent
KIDINS220ENSG00000134313ENST00000256707p.R1739Hc.5216G>ASubstitution - Missense
PDE9AENSG00000160191ENST00000291539p.S97Nc.290G>ASubstitution - Missense
SARM1ENSG00000004139ENST00000457710p.V165Mc.493G>ASubstitution - Missense
DACT3ENSG00000197380ENST00000300875p.L398Lc.1194C>ASubstitution - coding silent
MAGI2ENSG00000187391ENST00000354212p.R1099Kc.3296G>ASubstitution - Missense
SUN1ENSG00000164828ENST00000457378p.H139Hc.417C>TSubstitution - coding silent
SUN1ENSG00000164828ENST00000457378p.T142Ac.424A>GSubstitution - Missense
DOCK10ENSG00000135905ENST00000258390p.?c.6300-7G>AUnknown
ENST00000330166p.T383Sc.1147A>TSubstitution - Missense
ZIC4ENSG00000174963ENST00000383075p.T276Tc.828G>ASubstitution - coding silent
NM_016323.1p.A1012Ac.3036G>ASubstitution - coding silent
NM_006904p.G1513Rc.4537G>ASubstitution - Missense
ABCA6ENSG00000154262ENST00000284425p.L691Lc.2071C>TSubstitution - coding silent
ADH1BENSG00000196616ENST00000305046p.D361Nc.1081G>ASubstitution - Missense
ENST00000398685p.A160Tc.478G>ASubstitution - Missense
KLHDC4ENSG00000104731ENST00000446344p.T251Mc.752C>TSubstitution - Missense
ZNF841ENSG00000197608ENST00000389534p.R469Cc.1405C>TSubstitution - Missense
NOP56ENSG00000101361ENST00000445139p.G197Dc.590G>ASubstitution - Missense
TUSC3ENSG00000104723ENST00000382020p.R97Qc.290G>ASubstitution - Missense
ZSCAN25ENSG00000197037ENST00000394152p.R359Qc.1076G>ASubstitution - Missense
TMEM241ENSG00000134490ENST00000399707p.?c.306-3C>TUnknown
ELAC1ENSG00000141642ENST00000269466p.E352Gc.1055A>GSubstitution - Missense
PIK3R5ENSG00000141506ENST00000447110p.S389Nc.1166G>ASubstitution - Missense
PFASENSG00000178921ENST00000314666p.L1317Lc.3951G>ASubstitution - coding silent
USP19ENSG00000172046ENST00000434032p.R350Qc.1049G>ASubstitution - Missense
LAMB2ENSG00000172037ENST00000305544p.R1465Qc.4394G>ASubstitution - Missense
BSNENSG00000164061ENST00000296452p.L1480Fc.4438C>TSubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.C4164Cc.12492C>TSubstitution - coding silent
RPIAENSG00000153574ENST00000283646p.R52Cc.154C>TSubstitution - Missense
BRIP1ENSG00000136492ENST00000259008p.G290Vc.869G>TSubstitution - Missense
ENST00000436173p.R2566Rc.7698C>TSubstitution - coding silent
NPC1ENSG00000141458ENST00000269228p.A938Tc.2812G>ASubstitution - Missense
ITGB4ENSG00000132470ENST00000200181p.S1366Sc.4098C>TSubstitution - coding silent
SYT3ENSG00000213023ENST00000338916p.H545Hc.1635C>TSubstitution - coding silent
ALDH16A1ENSG00000161618ENST00000293350p.Q113Qc.339G>ASubstitution - coding silent
PARD3BENSG00000116117ENST00000358768p.P1084Lc.3251C>TSubstitution - Missense
ARHGAP6ENSG00000047648ENST00000337414p.T545Sc.1634C>GSubstitution - Missense
HTR2CENSG00000147246ENST00000371951p.I25Ic.75T>CSubstitution - coding silent
NM_003069.2p.R808Qc.2423G>ASubstitution - Missense
DNAAF1ENSG00000154099ENST00000378553p.G361Gc.1083C>TSubstitution - coding silent
TBKBP1ENSG00000198933ENST00000361722p.Q196Qc.588G>ASubstitution - coding silent
ZRANB2ENSG00000132485ENST00000254821p.R201Qc.602G>ASubstitution - Missense
PDE4BENSG00000184588ENST00000423207p.T692Tc.2076G>ASubstitution - coding silent
TPM1ENSG00000140416ENST00000358278p.L185Ic.553C>ASubstitution - Missense
TERF2IPENSG00000166848ENST00000300086p.R259Qc.776G>ASubstitution - Missense
STRIP1ENSG00000143093ENST00000369795p.L220Fc.658C>TSubstitution - Missense
PTGFRNENSG00000134247ENST00000393203p.S580Lc.1739C>TSubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.R1100Kc.3299G>ASubstitution - Missense
NR2F2ENSG00000185551ENST00000394166p.?c.443-4G>AUnknown
PLCB3ENSG00000149782ENST00000279230p.?c.1339-10G>AUnknown
STK40ENSG00000196182ENST00000373129p.T425Mc.1274C>TSubstitution - Missense
TRPC4ENSG00000133107ENST00000379681p.C911Yc.2732G>ASubstitution - Missense
GANABENSG00000089597ENST00000346178p.L751Pc.2252T>CSubstitution - Missense
OR10Q1ENSG00000180475ENST00000316770p.L134Lc.400C>TSubstitution - coding silent
TRIM68ENSG00000167333ENST00000300747p.M244Vc.730A>GSubstitution - Missense
OSBPL8ENSG00000091039ENST00000261183p.P860Lc.2579C>TSubstitution - Missense
NEIL1ENSG00000140398ENST00000355059p.R133Rc.399C>TSubstitution - coding silent
DLEU7ENSG00000186047ENST00000400393p.A98fs*62c.284_285insGInsertion - Frameshift
LMO7ENSG00000136153ENST00000465261p.K47Ec.139A>GSubstitution - Missense
PITRM1ENSG00000107959ENST00000380989p.G904fs*27c.2709delADeletion - Frameshift
SVILENSG00000197321ENST00000355867p.R215Qc.644G>ASubstitution - Missense
NM_016377.2p.K57fs*21c.163delADeletion - Frameshift
SEMA5AENSG00000112902ENST00000382496p.K378Nc.1134G>TSubstitution - Missense
PRR5ENSG00000186654ENST00000336985p.R153Qc.458G>ASubstitution - Missense
KCND1ENSG00000102057ENST00000218176p.R261Qc.782G>ASubstitution - Missense
MOV10L1ENSG00000073146ENST00000262794p.V604Mc.1810G>ASubstitution - Missense
CPSF7ENSG00000149532ENST00000394888p.R343*c.1027C>TSubstitution - Nonsense
NM_001004342.2p.T302Mc.905C>TSubstitution - Missense
GOLGA3ENSG00000090615ENST00000204726p.S476Sc.1428G>ASubstitution - coding silent
OR4C5ENSG00000176540ENST00000319813p.H214Hc.642C>TSubstitution - coding silent
GLI1ENSG00000111087ENST00000228682p.L1047Lc.3139C>TSubstitution - coding silent
GPC6ENSG00000183098ENST00000377047p.Y269Cc.806A>GSubstitution - Missense
SP1ENSG00000185591ENST00000327443p.Q282Qc.846G>ASubstitution - coding silent
CLK4ENSG00000113240ENST00000316308p.I177Lc.529A>CSubstitution - Missense
RAB8BENSG00000166128ENST00000321437p.K10Ec.28A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.S8352Ic.25055G>TSubstitution - Missense
ADARB2ENSG00000185736ENST00000381312p.A389Vc.1166C>TSubstitution - Missense
SMPD3ENSG00000103056ENST00000219334p.D358Gc.1073A>GSubstitution - Missense
OTOFENSG00000115155ENST00000339598p.R223Hc.668G>ASubstitution - Missense
ENST00000405167p.R4423Wc.13267C>TSubstitution - Missense
ARHGAP36ENSG00000147256ENST00000276211p.R439Rc.1317C>TSubstitution - coding silent
ENST00000419934p.R61Cc.181C>TSubstitution - Missense
NKX6-2ENSG00000148826ENST00000368592p.R200Qc.599G>ASubstitution - Missense
FAM198BENSG00000164125ENST00000296530p.R184Wc.550C>TSubstitution - Missense
CCP110ENSG00000103540ENST00000396212p.A491Tc.1471G>ASubstitution - Missense
ENST00000373969p.R702Qc.2105G>ASubstitution - Missense
GABBR1ENSG00000204681ENST00000377034p.R896Hc.2687G>ASubstitution - Missense
NM_000032.1p.R511Wc.1531C>TSubstitution - Missense
RPL37AENSG00000197756ENST00000491306p.A65Dc.194C>ASubstitution - Missense
TBC1D31ENSG00000156787ENST00000287380p.R913*c.2737C>TSubstitution - Nonsense
C3ENSG00000125730ENST00000245907p.I888Tc.2663T>CSubstitution - Missense
CCDC105ENSG00000160994ENST00000292574p.A416Tc.1246G>ASubstitution - Missense
CLN3ENSG00000188603ENST00000359984p.R341Hc.1022G>ASubstitution - Missense
TAB3ENSG00000157625ENST00000378933p.R44*c.130C>TSubstitution - Nonsense
VPS13AENSG00000197969ENST00000360280p.K372fs*2c.1108delADeletion - Frameshift
ENST00000505256p.T1829Mc.5486C>TSubstitution - Missense
PAQR9ENSG00000188582ENST00000340634p.R195Cc.583C>TSubstitution - Missense
ABCB11ENSG00000073734ENST00000263817p.R223Cc.667C>TSubstitution - Missense
TRIM56ENSG00000169871ENST00000306085p.R519Qc.1556G>ASubstitution - Missense
ENST00000258062_v70p.S125Sc.375G>ASubstitution - coding silent
DDX39BENSG00000198563ENST00000428450p.Q72Qc.216G>ASubstitution - coding silent
THADAENSG00000115970ENST00000330266p.T166Tc.498G>ASubstitution - coding silent
DNAH17ENSG00000187775ENST00000389840p.?c.7059+10C>AUnknown
DNAH17ENSG00000187775ENST00000389840p.?c.918+10C>TUnknown
MAP3K3ENSG00000198909ENST00000361357p.R308Wc.922C>TSubstitution - Missense
PIK3CDENSG00000171608ENST00000536656p.P451Pc.1353C>TSubstitution - coding silent
EOGTENSG00000163378ENST00000383701p.L460Pc.1379T>CSubstitution - Missense
IFRD2ENSG00000214706ENST00000429673p.R499Qc.1496G>ASubstitution - Missense
OR5M3ENSG00000174937ENST00000312240p.T16Pc.46A>CSubstitution - Missense
NFATC2ENSG00000101096ENST00000371564p.R754Wc.2260C>TSubstitution - Missense
TAP1ENSG00000168394ENST00000354258p.V470Ic.1408G>ASubstitution - Missense
PKHD1ENSG00000170927ENST00000340994p.C932Yc.2795G>ASubstitution - Missense
SMOXENSG00000088826ENST00000379460p.R523Hc.1568G>ASubstitution - Missense
KIF5CENSG00000168280ENST00000435030p.?c.2767+4C>TUnknown
HNRNPUL1ENSG00000105323ENST00000392006p.H280Hc.840C>TSubstitution - coding silent
JPH2ENSG00000149596ENST00000342272p.G103Sc.307G>ASubstitution - Missense
ZNF575ENSG00000176472ENST00000314228p.T172Tc.516C>TSubstitution - coding silent
LRFN1ENSG00000128011ENST00000248668p.G97Ec.290G>ASubstitution - Missense
MTSS1LENSG00000132613ENST00000338779p.T549Mc.1646C>TSubstitution - Missense
SEC16AENSG00000148396ENST00000313050p.S1413Nc.4238G>ASubstitution - Missense
CA4ENSG00000167434ENST00000300900p.T198Tc.594G>ASubstitution - coding silent
FGAENSG00000171560ENST00000302053p.C663Cc.1989C>TSubstitution - coding silent
KIF2BENSG00000141200ENST00000268919p.L287Lc.861G>ASubstitution - coding silent
PLEKHH2ENSG00000152527ENST00000282406p.?c.2103+6T>CUnknown
OR2K2ENSG00000171133ENST00000374428p.V146Mc.436G>ASubstitution - Missense
PTH1RENSG00000160801ENST00000313049p.W329Gc.985T>GSubstitution - Missense
SOCS6ENSG00000170677ENST00000397942p.T76Tc.228G>ASubstitution - coding silent
NFATC1ENSG00000131196ENST00000591814p.R273Wc.817C>TSubstitution - Missense
VCANENSG00000038427ENST00000265077p.R1431Cc.4291C>TSubstitution - Missense
ZBTB20ENSG00000181722ENST00000474710p.T190Tc.570G>ASubstitution - coding silent
WBSCR16ENSG00000174374ENST00000329959p.T388Tc.1164G>ASubstitution - coding silent
ARHGEF9ENSG00000131089ENST00000253401p.Y332Yc.996C>TSubstitution - coding silent
PMS2ENSG00000122512ENST00000265849p.V717Mc.2149G>ASubstitution - Missense
TYK2ENSG00000105397ENST00000525621p.R1027Hc.3080G>ASubstitution - Missense
OR2T34ENSG00000183310ENST00000328782p.I216Tc.647T>CSubstitution - Missense
ALMS1ENSG00000116127ENST00000264448p.R292Hc.875G>ASubstitution - Missense
SIPA1L2ENSG00000116991ENST00000366630p.E947Kc.2839G>ASubstitution - Missense
TPM2ENSG00000198467ENST00000378300p.D2Dc.6C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
KDM1BENSG00000165097ENST00000388870p.R420*c.1258C>TSubstitution - Nonsense
SHC2ENSG00000129946ENST00000264554p.R165Hc.494G>ASubstitution - Missense
IFRD2ENSG00000214706ENST00000429673p.R179Hc.536G>ASubstitution - Missense
NOP14ENSG00000087269ENST00000398071p.?c.1892-2A>GUnknown
PGRENSG00000082175ENST00000325455p.G188fs*23c.563delGDeletion - Frameshift
MYT1LENSG00000186487ENST00000428368p.A212Tc.634G>ASubstitution - Missense
GUK1ENSG00000143774ENST00000366722p.S10Sc.30C>TSubstitution - coding silent
ZNF318ENSG00000171467ENST00000361428p.A745Tc.2233G>ASubstitution - Missense
PBX2ENSG00000204304ENST00000375050p.S174Sc.522G>ASubstitution - coding silent
NOA1ENSG00000084092ENST00000264230p.V436Ic.1306G>ASubstitution - Missense
LAMB1ENSG00000091136ENST00000222399p.R849Wc.2545C>TSubstitution - Missense
THSD7AENSG00000005108ENST00000423059p.S1526Sc.4578G>ASubstitution - coding silent
PRRC2AENSG00000204469ENST00000376033p.R917Hc.2750G>ASubstitution - Missense
CDHR3ENSG00000128536ENST00000542731p.P37Lc.110C>TSubstitution - Missense
ZNF75DENSG00000186376ENST00000370766p.G188Gc.564C>TSubstitution - coding silent
PCDHGA2ENSG00000081853ENST00000394576p.C96Cc.288C>TSubstitution - coding silent
SLC25A2ENSG00000120329ENST00000239451p.Y85Yc.255C>TSubstitution - coding silent
ST3GAL2ENSG00000157350ENST00000342907p.R74Hc.221G>ASubstitution - Missense
POM121L12ENSG00000221900ENST00000408890p.P130Sc.388C>TSubstitution - Missense
ZFYVE28ENSG00000159733ENST00000290974p.Y860Yc.2580C>TSubstitution - coding silent
MPOENSG00000005381ENST00000225275p.A364Ac.1092C>TSubstitution - coding silent
TRIOENSG00000038382ENST00000344204p.H950Hc.2850C>TSubstitution - coding silent
NOP14ENSG00000087269ENST00000314262p.?c.1892-2A>GUnknown
EML6ENSG00000214595ENST00000356458p.L1846fs*5c.5532delCDeletion - Frameshift
SUN1ENSG00000164828ENST00000456758p.T179Ac.535A>GSubstitution - Missense
SLC23A3ENSG00000213901ENST00000295738p.P435Hc.1304C>ASubstitution - Missense
HJURPENSG00000123485ENST00000411486p.G690Ac.2069G>CSubstitution - Missense
ENST00000378682p.Q734*c.2200C>TSubstitution - Nonsense
KIAA0226ENSG00000145016ENST00000296343p.?c.1981-10_1981-1>TUnknown
TMEM8AENSG00000129925ENST00000431232p.S384Sc.1152C>TSubstitution - coding silent
CAMKVENSG00000164076ENST00000477224p.S292Fc.875C>TSubstitution - Missense
PCM1ENSG00000078674ENST00000325083p.N1492Nc.4476T>CSubstitution - coding silent
ENST00000360660p.L551Lc.1653G>ASubstitution - coding silent
URB1ENSG00000142207ENST00000382751p.T1404Ac.4210A>GSubstitution - Missense
DOCK8ENSG00000107099ENST00000453981p.Y37Hc.109T>CSubstitution - Missense
SU_NEK8p.L336fs*37c.1001delCDeletion - Frameshift
TANC2ENSG00000170921ENST00000389520p.V1886Ic.5656G>ASubstitution - Missense
DNAI1ENSG00000122735ENST00000242317p.S268Sc.804T>CSubstitution - coding silent
GUCY2FENSG00000101890ENST00000218006p.?c.2275+7G>AUnknown
FBXW10ENSG00000171931ENST00000395667p.R880Qc.2639G>ASubstitution - Missense
CHD7ENSG00000171316ENST00000423902p.L2146Pc.6437T>CSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000307431p.D469Dc.1407C>TSubstitution - coding silent
VPS13CENSG00000129003ENST00000261517p.P851Pc.2553T>CSubstitution - coding silent
ENST00000339740p.H29Nc.85C>ASubstitution - Missense
DYNC1H1ENSG00000197102ENST00000360184p.T4401Tc.13203C>ASubstitution - coding silent
PCF11ENSG00000165494ENST00000298281p.V1366Ac.4097T>CSubstitution - Missense
ACTN1ENSG00000072110ENST00000193403p.A862Tc.2584G>ASubstitution - Missense
C1orf127ENSG00000175262ENST00000377004p.P553Pc.1659C>TSubstitution - coding silent
IFT46ENSG00000118096ENST00000264020p.Q23Rc.68A>GSubstitution - Missense
UNC5BENSG00000107731ENST00000335350p.?c.1941+6G>AUnknown
GRIK3ENSG00000163873ENST00000373091p.M448Vc.1342A>GSubstitution - Missense
CDHR5ENSG00000099834ENST00000358353p.G298Dc.893G>ASubstitution - Missense
CDHR5ENSG00000099834ENST00000358353p.V296Vc.888G>ASubstitution - coding silent
NALCNENSG00000102452ENST00000251127p.I178Ic.534A>TSubstitution - coding silent
NM_001380.2p.V497Vc.1491G>ASubstitution - coding silent
ADAMTS7ENSG00000136378ENST00000388820p.A731Tc.2191G>ASubstitution - Missense
HSD17B13ENSG00000170509ENST00000328546p.A87Vc.260C>TSubstitution - Missense
LYG2ENSG00000185674ENST00000333017p.K173Tc.518A>CSubstitution - Missense
OSBPL2ENSG00000130703ENST00000313733p.P460Pc.1380C>TSubstitution - coding silent
SYNDIG1ENSG00000101463ENST00000376862p.P89Sc.265C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.A12137Tc.36409G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.A5832Tc.17494G>ASubstitution - Missense
C2orf47ENSG00000162972ENST00000392290p.L176Lc.528A>GSubstitution - coding silent
KCNB2ENSG00000182674ENST00000523207p.S762fs*46c.2279delCDeletion - Frameshift
SLAIN2ENSG00000109171ENST00000264313p.R384Hc.1151G>ASubstitution - Missense
TDP2ENSG00000111802ENST00000545995p.R24Wc.70C>TSubstitution - Missense
MST1RENSG00000164078ENST00000296474p.G357Sc.1069G>ASubstitution - Missense
MRPS5ENSG00000144029ENST00000272418p.?c.59-4G>AUnknown
P2RX5ENSG00000083454ENST00000225328p.?c.887+7G>AUnknown
LPLENSG00000175445ENST00000311322p.V340Ic.1018G>ASubstitution - Missense
SMG6ENSG00000070366ENST00000263073p.D1200Dc.3600T>CSubstitution - coding silent
DSC1ENSG00000134765ENST00000257198p.V360Ac.1079T>CSubstitution - Missense
PHYHIPENSG00000168490ENST00000321613p.L294Lc.880C>TSubstitution - coding silent
ITGB4ENSG00000132470ENST00000339591p.P1188Pc.3564G>ASubstitution - coding silent
GPCPD1ENSG00000125772ENST00000379019p.G80Sc.238G>ASubstitution - Missense
NM_144967.2p.S167Nc.500G>ASubstitution - Missense
PGBD2ENSG00000185220ENST00000355360p.R295Hc.884G>ASubstitution - Missense
CAPSLENSG00000152611ENST00000397366p.T58Tc.174C>TSubstitution - coding silent
MROH7ENSG00000184313ENST00000421030p.H1279Rc.3836A>GSubstitution - Missense
ENSG00000273259ENST00000553947p.A108Tc.322G>ASubstitution - Missense
NOTCH2NLENSG00000213240ENST00000362074p.R33Hc.98G>ASubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.Q1721Qc.5163G>ASubstitution - coding silent
PCF11ENSG00000165494ENST00000298281p.V1267Ac.3800T>CSubstitution - Missense
ASH1LENSG00000116539ENST00000392403p.?c.6178-7C>TUnknown
MACF1ENSG00000127603ENST00000361689p.R5212Rc.15636C>TSubstitution - coding silent
FCRL6ENSG00000181036ENST00000368106p.?c.319+5G>CUnknown
THYN1ENSG00000151500ENST00000392595p.R171Hc.512G>ASubstitution - Missense
PROSER1ENSG00000120685ENST00000352251p.G640Ac.1919G>CSubstitution - Missense
AIPENSG00000110711ENST00000279146p.D113Dc.339C>TSubstitution - coding silent
AIPENSG00000110711ENST00000279146p.H135Yc.403C>TSubstitution - Missense
MYRFENSG00000124920ENST00000265460p.E404Kc.1210G>ASubstitution - Missense
DNMBPENSG00000107554ENST00000342239p.R1350Hc.4049G>ASubstitution - Missense
TMEM180ENSG00000138111ENST00000238936p.R98Wc.292C>TSubstitution - Missense
CNR2ENSG00000188822ENST00000374472p.T272Tc.816G>ASubstitution - coding silent
BCCIPENSG00000107949ENST00000278100p.N69Nc.207T>CSubstitution - coding silent
AKAP13ENSG00000170776ENST00000361243p.S1513Nc.4538G>ASubstitution - Missense
METTL17ENSG00000165792ENST00000382985p.A301Pc.901G>CSubstitution - Missense
PPP1R12AENSG00000058272ENST00000261207p.K375Kc.1125A>GSubstitution - coding silent
DGKZENSG00000149091ENST00000343674p.?c.2467-5C>TUnknown
GRAMD1BENSG00000023171ENST00000322282p.M705Tc.2114T>CSubstitution - Missense
GALNT2ENSG00000143641ENST00000366672p.E416Qc.1246G>CSubstitution - Missense
TRIM11ENSG00000154370ENST00000284551p.T437Tc.1311G>ASubstitution - coding silent
ESPL1ENSG00000135476ENST00000257934p.R106Wc.316C>TSubstitution - Missense
DEPDC5ENSG00000100150ENST00000400248p.V1329Mc.3985G>ASubstitution - Missense
NRP2ENSG00000118257ENST00000272849p.H881Yc.2641C>TSubstitution - Missense
ODF1ENSG00000155087ENST00000285402p.V150Ac.449T>CSubstitution - Missense
CPSF1ENSG00000071894ENST00000349769p.V84Mc.250G>ASubstitution - Missense
GPLD1ENSG00000112293ENST00000230036p.R714Hc.2141G>ASubstitution - Missense
ALAS1ENSG00000023330ENST00000394965p.P576Sc.1726C>TSubstitution - Missense
AGTPBP1ENSG00000135049ENST00000357081p.S786Lc.2357C>TSubstitution - Missense
VWFENSG00000110799ENST00000261405p.R575Cc.1723C>TSubstitution - Missense
PRKCBENSG00000166501ENST00000303531p.R465Hc.1394G>ASubstitution - Missense
GUCY2DENSG00000132518ENST00000254854p.R995Wc.2983C>TSubstitution - Missense
CDH22ENSG00000149654ENST00000372262p.E128Kc.382G>ASubstitution - Missense
PDE6CENSG00000095464ENST00000371447p.V402Ac.1205T>CSubstitution - Missense
IFRD1ENSG00000006652ENST00000005558p.R132Hc.395G>ASubstitution - Missense
EZH2ENSG00000106462ENST00000350995p.R303Qc.908G>ASubstitution - Missense
STAB2ENSG00000136011ENST00000388887p.D153Nc.457G>ASubstitution - Missense
ZYXENSG00000159840ENST00000322764p.A525Tc.1573G>ASubstitution - Missense
PALB2ENSG00000083093ENST00000261584p.M296fs*1c.886delADeletion - Frameshift
COL2A1ENSG00000139219ENST00000337299p.P224Tc.670C>ASubstitution - Missense
PTP4A2ENSG00000184007ENST00000344035p.C95Cc.285C>TSubstitution - coding silent
ADCY6ENSG00000174233ENST00000307885p.P437Pc.1311G>ASubstitution - coding silent
GOLGA6L10ENSG00000205281ENST00000439287p.N471Sc.1412A>GSubstitution - Missense
CLPBENSG00000162129ENST00000294053p.S109Tc.326G>CSubstitution - Missense
MYH7ENSG00000092054ENST00000355349p.?c.4354-7C>AUnknown
CAPZA3ENSG00000177938ENST00000317658p.R16Hc.47G>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.?c.5782+7C>TUnknown
ATF7IPENSG00000171681ENST00000261168p.D506fs*17c.1511delADeletion - Frameshift
VSIG2ENSG00000019102ENST00000326621p.L142Lc.424C>TSubstitution - coding silent
PITRM1ENSG00000107959ENST00000451104p.G805fs*27c.2412delADeletion - Frameshift
RASSF4ENSG00000107551ENST00000340258p.R166Wc.496C>TSubstitution - Missense
DZIP1ENSG00000134874ENST00000347108p.A50Vc.149C>TSubstitution - Missense
NIPBLENSG00000164190ENST00000282516p.Q2738*c.8212C>TSubstitution - Nonsense
SLC34A1ENSG00000131183ENST00000324417p.H223Yc.667C>TSubstitution - Missense
SLAMF8ENSG00000158714ENST00000289707p.R51*c.151C>TSubstitution - Nonsense
POLR1EENSG00000137054ENST00000377798p.M369Tc.1106T>CSubstitution - Missense
USF1ENSG00000158773ENST00000368020p.R297Wc.889C>TSubstitution - Missense
PLD3ENSG00000105223ENST00000359274p.R214Wc.640C>TSubstitution - Missense
SHKBP1ENSG00000160410ENST00000291842p.V410Mc.1228G>ASubstitution - Missense
CHST5ENSG00000135702ENST00000336257p.R62Cc.184C>TSubstitution - Missense
TCF7L2ENSG00000148737ENST00000369397p.A355Tc.1063G>ASubstitution - Missense
AKAP8LENSG00000011243ENST00000397410p.V133Ic.397G>ASubstitution - Missense
HIST1H4GENSG00000124578ENST00000244537p.G15Sc.43G>ASubstitution - Missense
TNRC6CENSG00000078687ENST00000301624p.V375Ic.1123G>ASubstitution - Missense
HRASENSG00000174775ENST00000397594p.A59Ac.177C>TSubstitution - coding silent
CLSTN2ENSG00000158258ENST00000458420p.R599Wc.1795C>TSubstitution - Missense
PPFIA1ENSG00000131626ENST00000253925p.V1048Mc.3142G>ASubstitution - Missense
MLH1ENSG00000076242ENST00000231790p.R100*c.298C>TSubstitution - Nonsense
KRASENSG00000133703ENST00000311936p.G12Dc.35G>ASubstitution - Missense
SOGA3ENSG00000214338ENST00000368268p.A707Ac.2121G>ASubstitution - coding silent
FBXW7ENSG00000109670ENST00000263981p.R385Cc.1153C>TSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.V3021Ic.9061G>ASubstitution - Missense
STK40ENSG00000196182ENST00000373130p.T430Mc.1289C>TSubstitution - Missense
DCBLD2ENSG00000057019ENST00000326857p.A270Tc.808G>ASubstitution - Missense
ENST00000309584_v70p.E250Gc.749A>GSubstitution - Missense
ENST00000304105p.I71Ic.213C>TSubstitution - coding silent
PLIN4ENSG00000167676ENST00000301286p.T184Tc.552C>TSubstitution - coding silent
ENST00000359961p.R9Cc.25C>TSubstitution - Missense
ATP11CENSG00000101974ENST00000327569p.K837Tc.2510A>CSubstitution - Missense
HIPK4ENSG00000160396ENST00000291823p.V224Ac.671T>CSubstitution - Missense
SPARCENSG00000113140ENST00000231061p.E65Vc.194A>TSubstitution - Missense
HKR1ENSG00000181666ENST00000324411p.N291fs*26c.868delADeletion - Frameshift
MED23ENSG00000112282ENST00000540546p.E779Gc.2336A>GSubstitution - Missense
ENST00000356906_v68p.S20Yc.59C>ASubstitution - Missense
KLF4ENSG00000136826ENST00000374672p.G402Gc.1206C>GSubstitution - coding silent
CCDC149ENSG00000181982ENST00000504487p.A419Tc.1255G>ASubstitution - Missense
ICAM3ENSG00000076662ENST00000160262p.C190Yc.569G>ASubstitution - Missense
UNC13AENSG00000130477ENST00000519716p.R634Wc.1900C>TSubstitution - Missense
SCAMP4ENSG00000227500ENST00000316097p.D27Dc.81C>TSubstitution - coding silent
ADCY2ENSG00000078295ENST00000338316p.K356Tc.1067A>CSubstitution - Missense
MLC1ENSG00000100427ENST00000395876p.A205Tc.613G>ASubstitution - Missense
TAOK2ENSG00000149930ENST00000308893p.?c.1789-6G>AUnknown
DACT3ENSG00000197380ENST00000391916p.R617Sc.1849C>ASubstitution - Missense
XRN1ENSG00000114127ENST00000264951p.A1591Vc.4772C>TSubstitution - Missense
C3orf56ENSG00000214324ENST00000398112p.A185Tc.553G>ASubstitution - Missense
AF083811.1p.L362fs*61c.1083delGDeletion - Frameshift
RPS6KA2ENSG00000071242ENST00000503859p.T333Tc.999G>ASubstitution - coding silent
HK2ENSG00000159399ENST00000290573p.T430Tc.1290C>TSubstitution - coding silent
CPA3ENSG00000163751ENST00000296046p.C245Cc.735C>TSubstitution - coding silent
SLC7A11ENSG00000151012ENST00000280612p.R361Hc.1082G>ASubstitution - Missense
KIAA0195ENSG00000177728ENST00000314256p.?c.1072-8C>TUnknown
ZNF324BENSG00000249471ENST00000336614p.D114Nc.340G>ASubstitution - Missense
ENST00000405167p.T1892Tc.5676C>TSubstitution - coding silent
PCNTENSG00000160299ENST00000359568p.S3060Nc.9179G>ASubstitution - Missense
EPHA8ENSG00000070886ENST00000166244p.Y125Hc.373T>CSubstitution - Missense
TFPIENSG00000003436ENST00000392365p.A228Vc.683C>TSubstitution - Missense
SLC25A32ENSG00000164933ENST00000297578p.G84Ec.251G>ASubstitution - Missense
IGF1RENSG00000140443ENST00000268035p.R107Hc.320G>ASubstitution - Missense
POLR1EENSG00000137054ENST00000377792p.M431Tc.1292T>CSubstitution - Missense
ANXA4ENSG00000196975ENST00000394295p.D212Nc.634G>ASubstitution - Missense
SU_OBSCN.1p.G1203Rc.3607G>ASubstitution - Missense
CAMSAP1ENSG00000130559ENST00000409386p.A686Tc.2056G>ASubstitution - Missense
MYO1DENSG00000176658ENST00000318217p.S738Sc.2214G>ASubstitution - coding silent
ATP6V0A1ENSG00000033627ENST00000264649p.?c.118-3C>TUnknown
PVRENSG00000073008ENST00000406449p.R140*c.418C>TSubstitution - Nonsense
ENST00000258062_v70p.G187Sc.559G>ASubstitution - Missense
TRPC3ENSG00000138741ENST00000379645p.T228Tc.684G>ASubstitution - coding silent
HEATR5AENSG00000129493ENST00000404677p.L1085Lc.3255A>GSubstitution - coding silent
UBXN1ENSG00000162191ENST00000301935p.H58Yc.172C>TSubstitution - Missense
TMTC1ENSG00000133687ENST00000381224p.P149Pc.447C>TSubstitution - coding silent
SLC25A25ENSG00000148339ENST00000373068p.D408Dc.1224C>TSubstitution - coding silent
NM_002203.2p.A398Vc.1193C>TSubstitution - Missense
ENST00000293882_v62p.R287Wc.859C>TSubstitution - Missense
ENST00000319396p.V200Mc.598G>ASubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.D4619Dc.13857C>TSubstitution - coding silent
SUPT5HENSG00000196235ENST00000359191p.?c.307+7G>AUnknown
WFS1ENSG00000109501ENST00000226760p.L181Lc.541C>TSubstitution - coding silent
HDAC9ENSG00000048052ENST00000441542p.L926Lc.2778A>GSubstitution - coding silent
NM_007349.2p.?c.972+9C>GUnknown
ENST00000316490_v65p.R1630Cc.4888C>TSubstitution - Missense
MED23ENSG00000112282ENST00000368068p.E773Gc.2318A>GSubstitution - Missense
ENST00000356906p.S20Yc.59C>ASubstitution - Missense
ARHGEF37ENSG00000183111ENST00000333677p.Y125Yc.375C>TSubstitution - coding silent
CACNA1IENSG00000100346ENST00000402142p.L54Rc.161T>GSubstitution - Missense
POU4F2ENSG00000151615ENST00000281321p.Q267*c.799C>TSubstitution - Nonsense
SLC26A8ENSG00000112053ENST00000355574p.H239Lc.716A>TSubstitution - Missense
MAPK14ENSG00000112062ENST00000229795p.?c.417+3A>GUnknown
OPHN1ENSG00000079482ENST00000355520p.S9Sc.27C>TSubstitution - coding silent
SLC25A42ENSG00000181035ENST00000318596p.A265Tc.793G>ASubstitution - Missense
ZKSCAN7ENSG00000196345ENST00000273320p.A268Tc.802G>ASubstitution - Missense
MED20ENSG00000124641ENST00000265350p.A12Tc.34G>ASubstitution - Missense
FBXL19ENSG00000099364ENST00000380310p.A608Tc.1822G>ASubstitution - Missense
LXNENSG00000079257ENST00000264265p.?c.371-6T>GUnknown
CHST12ENSG00000136213ENST00000258711p.A122Vc.365C>TSubstitution - Missense
ENST00000290390_v68p.R166Wc.496C>TSubstitution - Missense
SLC9A2ENSG00000115616ENST00000233969p.R586Hc.1757G>ASubstitution - Missense
ENST00000265148.1p.T174Tc.522A>GSubstitution - coding silent
HERC6ENSG00000138642ENST00000264346p.A822Tc.2464G>ASubstitution - Missense
SHISA6ENSG00000188803ENST00000432116p.G409fs*65c.1223delGDeletion - Frameshift
PDE11AENSG00000128655ENST00000358450p.L456Lc.1368C>TSubstitution - coding silent
ANKRD36ENSG00000135976ENST00000420699p.?c.3294+3A>GUnknown
EPPK1ENSG00000227184ENST00000525985p.L2200Lc.6600G>ASubstitution - coding silent
PIEZO2ENSG00000154864ENST00000302079p.R386Qc.1157G>ASubstitution - Missense
DIP2AENSG00000160305ENST00000417564p.A758Ac.2274G>ASubstitution - coding silent
ASAP2ENSG00000151693ENST00000281419p.S179Sc.537C>TSubstitution - coding silent
ADRA1AENSG00000120907ENST00000354550p.A189Ac.567G>ASubstitution - coding silent
ADRA1AENSG00000120907ENST00000380581p.A189Ac.567G>ASubstitution - coding silent
IL4I1ENSG00000104951ENST00000341114p.T128Tc.384G>ASubstitution - coding silent
RNF113AENSG00000125352ENST00000371442p.C36Cc.108C>TSubstitution - coding silent
MISPENSG00000099812ENST00000215582p.G442Rc.1324G>ASubstitution - Missense
CHD5ENSG00000116254ENST00000262450p.P385Pc.1155C>ASubstitution - coding silent
FAF1ENSG00000185104ENST00000396153p.T283Tc.849C>TSubstitution - coding silent
TLN2ENSG00000171914ENST00000306829p.Q352Qc.1056G>ASubstitution - coding silent
CLCC1ENSG00000121940ENST00000369976p.S36Sc.108A>GSubstitution - coding silent
CHD2ENSG00000173575ENST00000394196p.?c.1720-7C>TUnknown
RHOBTB1ENSG00000072422ENST00000357917p.T41Tc.123G>ASubstitution - coding silent
CCKBRENSG00000110148ENST00000525462p.G356Gc.1068C>TSubstitution - coding silent
FOXF2ENSG00000137273ENST00000259806p.A337Ac.1011G>ASubstitution - coding silent
PHACTR2ENSG00000112419ENST00000305766p.G341Gc.1023C>TSubstitution - coding silent
ENST00000342088p.R347Qc.1040G>ASubstitution - Missense
GALPENSG00000197487ENST00000357330p.L12Vc.34C>GSubstitution - Missense
SLC16A6ENSG00000108932ENST00000327268p.R176Hc.527G>ASubstitution - Missense
BDH2ENSG00000164039ENST00000296424p.I239Vc.715A>GSubstitution - Missense
ZSCAN32ENSG00000140987ENST00000304926p.E176Gc.527A>GSubstitution - Missense
PRSS8ENSG00000052344ENST00000317508p.A160Vc.479C>TSubstitution - Missense
ENSG00000271698ENST00000531225p.R109Wc.325C>TSubstitution - Missense
PLECENSG00000178209ENST00000354958p.R1489Qc.4466G>ASubstitution - Missense
SNX20ENSG00000167208ENST00000330943p.T300Mc.899C>TSubstitution - Missense
SONENSG00000159140ENST00000356577p.R1928Qc.5783G>ASubstitution - Missense
PIGPENSG00000185808ENST00000464265p.I100Vc.298A>GSubstitution - Missense
TLR1ENSG00000174125ENST00000308979p.V465Ic.1393G>ASubstitution - Missense
MIDNENSG00000167470ENST00000300952p.Q62Qc.186G>ASubstitution - coding silent
CARM1ENSG00000142453ENST00000327064p.W313*c.938G>ASubstitution - Nonsense
PWP2ENSG00000241945ENST00000291576p.?c.2140+9T>CUnknown
ADRA1AENSG00000120907ENST00000380586p.A189Ac.567G>ASubstitution - coding silent
ASB14ENSG00000239388ENST00000487349p.G150Gc.450C>TSubstitution - coding silent
ENST00000452401p.G194Rc.580G>ASubstitution - Missense
NFX1ENSG00000086102ENST00000379540p.G534Sc.1600G>ASubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.?c.1345+8G>AUnknown
XM_290732.4p.G459Dc.1376G>ASubstitution - Missense
TNRC6CENSG00000078687ENST00000335749p.V375Ic.1123G>ASubstitution - Missense
ITGB4ENSG00000132470ENST00000200181p.P1188Pc.3564G>ASubstitution - coding silent
ELF4ENSG00000102034ENST00000335997p.Y546Hc.1636T>CSubstitution - Missense
MMEL1ENSG00000142606ENST00000288709p.T161Mc.482C>TSubstitution - Missense
FYBENSG00000082074ENST00000351578p.K373Ec.1117A>GSubstitution - Missense
ME3ENSG00000151376ENST00000532471p.K47Tc.140A>CSubstitution - Missense
MYO5CENSG00000128833ENST00000261839p.A1585Ac.4755G>ASubstitution - coding silent
GRM5ENSG00000168959ENST00000305432p.G936Gc.2808C>ASubstitution - coding silent
NEDD4ENSG00000069869ENST00000338963p.?c.2524+5G>AUnknown
ADAM10ENSG00000137845ENST00000260408p.C510Yc.1529G>ASubstitution - Missense
QSER1ENSG00000060749ENST00000399302p.A518Vc.1553C>TSubstitution - Missense
BDNFENSG00000176697ENST00000314915p.S53Sc.159C>TSubstitution - coding silent
MUC2ENSG00000198788ENST00000359061p.T786Mc.2357C>TSubstitution - Missense
ALDH6A1ENSG00000119711ENST00000553458p.S487Ac.1459T>GSubstitution - Missense
NOS1APENSG00000198929ENST00000361897p.G450Gc.1350C>TSubstitution - coding silent
USF1ENSG00000158773ENST00000368020p.R210Cc.628C>TSubstitution - Missense
GABRA5ENSG00000186297ENST00000335625p.?c.878-4G>AUnknown
BANF1ENSG00000175334ENST00000312175p.C80Cc.240C>TSubstitution - coding silent
TEP1ENSG00000129566ENST00000262715p.L1489Lc.4465C>TSubstitution - coding silent
ADRA2AENSG00000150594ENST00000280155p.R148Cc.442C>TSubstitution - Missense
SEMA4GENSG00000095539ENST00000210633p.R707Qc.2120G>ASubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.V1889Ic.5665G>ASubstitution - Missense
SLC16A7ENSG00000118596ENST00000261187p.S104Sc.312C>ASubstitution - coding silent
TMTC2ENSG00000179104ENST00000321196p.T690Tc.2070A>GSubstitution - coding silent
ZBTB40ENSG00000184677ENST00000404138p.T80Tc.240G>ASubstitution - coding silent
LGI1ENSG00000108231ENST00000371418p.A375Vc.1124C>TSubstitution - Missense
KIAA2018ENSG00000176542ENST00000316407p.R1330Hc.3989G>ASubstitution - Missense
HGDENSG00000113924ENST00000283871p.Q238*c.712C>TSubstitution - Nonsense
MAFGENSG00000197063ENST00000357736p.A10fs*3c.24_25insAAInsertion - Frameshift
SYNE1ENSG00000131018ENST00000265368p.R7155*c.21463C>TSubstitution - Nonsense
PIGWENSG00000184886ENST00000328396p.L94*c.281T>ASubstitution - Nonsense
ANK2ENSG00000145362ENST00000357077p.E2996Dc.8988A>TSubstitution - Missense
FAM198BENSG00000164125ENST00000393807p.R184Wc.550C>TSubstitution - Missense
EZH2ENSG00000106462ENST00000320356p.R347Qc.1040G>ASubstitution - Missense
MYCBP2ENSG00000005810ENST00000357337p.V223Ic.667G>ASubstitution - Missense
TGFB2ENSG00000092969ENST00000366929p.F229Fc.687C>TSubstitution - coding silent
SYT15ENSG00000204176ENST00000374325p.P208Pc.624G>ASubstitution - coding silent
EXOC2ENSG00000112685ENST00000230449p.E214Kc.640G>ASubstitution - Missense
EXOC2ENSG00000112685ENST00000230449p.R518Hc.1553G>ASubstitution - Missense
ZC2HC1BENSG00000118491ENST00000237275p.A36Tc.106G>ASubstitution - Missense
TNRC18ENSG00000182095ENST00000430969p.V1270Mc.3808G>ASubstitution - Missense
RSRC2ENSG00000111011ENST00000354654p.A248Tc.742G>ASubstitution - Missense
FAM214AENSG00000047346ENST00000261844p.V183Vc.549A>GSubstitution - coding silent
IQSEC3ENSG00000120645ENST00000538872p.A820Gc.2459C>GSubstitution - Missense
ZNF598ENSG00000167962ENST00000431526p.Q794*c.2380C>TSubstitution - Nonsense
PCDH15ENSG00000150275ENST00000414778p.R1105Kc.3314G>ASubstitution - Missense
BDNFENSG00000176697ENST00000438929p.S127Sc.381C>TSubstitution - coding silent
CD44ENSG00000026508ENST00000428726p.R154Hc.461G>ASubstitution - Missense
HORMAD1ENSG00000143452ENST00000361824p.M82Tc.245T>CSubstitution - Missense
JMJD1CENSG00000171988ENST00000399262p.Q840Qc.2520G>ASubstitution - coding silent
RBM20ENSG00000203867ENST00000369519p.H147Hc.441C>TSubstitution - coding silent
MYO7AENSG00000137474ENST00000409709p.?c.5480+10G>AUnknown
CARNS1ENSG00000172508ENST00000307823p.S185Sc.555C>TSubstitution - coding silent
DDB2ENSG00000134574ENST00000256996p.?c.1189-10G>CUnknown
WSCD2ENSG00000075035ENST00000332082p.A441Ac.1323G>ASubstitution - coding silent
CDC42BPAENSG00000143776ENST00000366766p.S1741Ic.5222G>TSubstitution - Missense
ENST00000315089p.V28fs*1c.76delGDeletion - Frameshift
ARID1AENSG00000117713ENST00000324856p.R1463Hc.4388G>ASubstitution - Missense
TNPO1ENSG00000083312ENST00000506351p.R338Hc.1013G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.N1563Dc.4687A>GSubstitution - Missense
NM_017936.3p.L240Vc.718C>GSubstitution - Missense
COL3A1ENSG00000168542ENST00000304636p.R1034Hc.3101G>ASubstitution - Missense
SLC44A5ENSG00000137968ENST00000370855p.R510*c.1528C>TSubstitution - Nonsense
OR6K2ENSG00000196171ENST00000359610p.A274Sc.820G>TSubstitution - Missense
COPAENSG00000122218ENST00000241704p.R1058Hc.3173G>ASubstitution - Missense
BRINP2ENSG00000198797ENST00000361539p.R392Wc.1174C>TSubstitution - Missense
ZNF581ENSG00000171425ENST00000270451p.G146Sc.436G>ASubstitution - Missense
CCDC50ENSG00000152492ENST00000392456p.Q82Pc.245A>CSubstitution - Missense
TRUB1ENSG00000165832ENST00000298746p.G135Rc.403G>ASubstitution - Missense
SPECC1ENSG00000128487ENST00000395527p.N303fs*63c.901delADeletion - Frameshift
CASZ1ENSG00000130940ENST00000377022p.R487Hc.1460G>ASubstitution - Missense
DSG4ENSG00000175065ENST00000359747p.T704Tc.2112C>TSubstitution - coding silent
GRIN2AENSG00000183454ENST00000396573p.R1067Wc.3199C>TSubstitution - Missense
ENST00000298728p.R356Hc.1067G>ASubstitution - Missense
SH3GLB2ENSG00000148341ENST00000372554p.H258Hc.774C>TSubstitution - coding silent
CPA6ENSG00000165078ENST00000518549p.T115Tc.345A>CSubstitution - coding silent
PHF8ENSG00000172943ENST00000338946p.L219Lc.655T>CSubstitution - coding silent
MTSS1ENSG00000170873ENST00000378017p.G713Gc.2139C>TSubstitution - coding silent
ZNF318ENSG00000171467ENST00000318149p.A745Tc.2233G>ASubstitution - Missense
BTG3ENSG00000154640ENST00000339775p.D185Gc.554A>GSubstitution - Missense
PLXND1ENSG00000004399ENST00000393239p.S1474Lc.4421C>TSubstitution - Missense
PARVBENSG00000188677ENST00000338758p.P200Pc.600T>CSubstitution - coding silent
ZSCAN32ENSG00000140987ENST00000396852p.E388Gc.1163A>GSubstitution - Missense
MCUENSG00000156026ENST00000357157p.R113*c.337C>TSubstitution - Nonsense
PKD1ENSG00000008710ENST00000262304p.L3381Fc.10141C>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
ASIC3ENSG00000213199ENST00000349064p.P132Pc.396C>TSubstitution - coding silent
ENST00000316490p.R1582Cc.4744C>TSubstitution - Missense
ZNF181ENSG00000197841ENST00000492450p.K69fs*6c.202delADeletion - Frameshift
ENST00000571252_v68p.R202Hc.605G>ASubstitution - Missense
SIPA1L3ENSG00000105738ENST00000222345p.G524Rc.1570G>ASubstitution - Missense
PCDHA10ENSG00000250120ENST00000506939p.C95Cc.285C>TSubstitution - coding silent
TNIKENSG00000154310ENST00000436636p.R1085Qc.3254G>ASubstitution - Missense
STAT5AENSG00000126561ENST00000345506p.?c.2063-7T>CUnknown
DSTENSG00000151914ENST00000244364p.L4086Lc.12256T>CSubstitution - coding silent
DSTENSG00000151914ENST00000370769p.L6500Lc.19498T>CSubstitution - coding silent
JMYENSG00000152409ENST00000396137p.M277Vc.829A>GSubstitution - Missense
PLXNB1ENSG00000164050ENST00000296440p.?c.3617+8C>TUnknown
NR2F1ENSG00000175745ENST00000327111p.Y355Yc.1065C>TSubstitution - coding silent
R3HDM1ENSG00000048991ENST00000264160p.S397Gc.1189A>GSubstitution - Missense
ATP8B3ENSG00000130270ENST00000539485p.H485Yc.1453C>TSubstitution - Missense
FOXP4ENSG00000137166ENST00000373063p.A258Tc.772G>ASubstitution - Missense
HIRIP3ENSG00000149929ENST00000279392p.S68Sc.204C>TSubstitution - coding silent
ENST00000427986p.A24Tc.70G>ASubstitution - Missense
ECEL1ENSG00000171551ENST00000304546p.A686Ac.2058C>GSubstitution - coding silent
FN1ENSG00000115414ENST00000354785p.R1725Hc.5174G>ASubstitution - Missense
SMG6ENSG00000070366ENST00000263073p.R739Qc.2216G>ASubstitution - Missense
A2MENSG00000175899ENST00000318602p.N124Nc.372C>TSubstitution - coding silent
CEACAM4ENSG00000105352ENST00000221954p.A154Tc.460G>ASubstitution - Missense
NOL6ENSG00000165271ENST00000379471p.T926Ac.2776A>GSubstitution - Missense
THADAENSG00000115970ENST00000330266p.N32Nc.96C>TSubstitution - coding silent
TMEM95ENSG00000182896ENST00000389982p.A47Tc.139G>ASubstitution - Missense
ENST00000378024_v70p.K4448Nc.13344G>CSubstitution - Missense
TRIM56ENSG00000169871ENST00000306085p.R519Qc.1556G>ASubstitution - Missense
ZSCAN32ENSG00000140987ENST00000396852p.Y535fs*19c.1603_1604insCInsertion - Frameshift
TRPA1ENSG00000104321ENST00000262209p.L584fs*43c.1751delTDeletion - Frameshift
ENST00000373851p.E187fs*3c.559_560insGInsertion - Frameshift
STK19ENSG00000204344ENST00000375333p.Q174Qc.522G>ASubstitution - coding silent
MTSS1ENSG00000170873ENST00000518547p.G738Gc.2214C>TSubstitution - coding silent
CPAMD8ENSG00000160111ENST00000291440p.?c.2986+8C>TUnknown
PHYKPLENSG00000175309ENST00000308158p.G61Gc.183G>ASubstitution - coding silent
LY75ENSG00000054219ENST00000263636p.H413Hc.1239T>CSubstitution - coding silent
PPP1R10ENSG00000204569ENST00000376511p.T182Ac.544A>GSubstitution - Missense
CDHR3ENSG00000128536ENST00000317716p.P37Lc.110C>TSubstitution - Missense
ATP11CENSG00000101974ENST00000361648p.K837Tc.2510A>CSubstitution - Missense
SGSM1ENSG00000167037ENST00000400359p.K1140Kc.3420G>ASubstitution - coding silent
TESENSG00000135269ENST00000358204p.R42Hc.125G>ASubstitution - Missense
COL12A1ENSG00000111799ENST00000322507p.T719Tc.2157C>TSubstitution - coding silent
CAMSAP1ENSG00000130559ENST00000389532p.A675Tc.2023G>ASubstitution - Missense
PCDHGA10ENSG00000253846ENST00000398610p.A87Tc.259G>ASubstitution - Missense
PRDM6ENSG00000061455ENST00000407847p.G8Gc.24C>TSubstitution - coding silent
KIAA0825ENSG00000185261ENST00000513200p.V709Ac.2126T>CSubstitution - Missense
GCNT2ENSG00000111846ENST00000379597p.?c.925+5G>TUnknown
KLF8ENSG00000102349ENST00000468660p.Q248*c.742C>TSubstitution - Nonsense
CERS1ENSG00000223802ENST00000427170p.?c.900+8G>AUnknown
IFI30ENSG00000216490ENST00000407280p.T97Tc.291G>ASubstitution - coding silent
GLTSCR1ENSG00000063169ENST00000396720p.I1212Ic.3636C>TSubstitution - coding silent
NUP210ENSG00000132182ENST00000254508p.P876Pc.2628G>ASubstitution - coding silent
ENSG00000197182ENST00000381051p.A110Tc.328G>ASubstitution - Missense
SEMA3AENSG00000075213ENST00000265362p.A507Tc.1519G>ASubstitution - Missense
PHEXENSG00000102174ENST00000379374p.?c.1645+8C>TUnknown
HS3ST1ENSG00000002587ENST00000002596p.P55Pc.165G>ASubstitution - coding silent
ZNF619ENSG00000177873ENST00000447116p.C538Cc.1614C>TSubstitution - coding silent
PLATENSG00000104368ENST00000429089p.A274Ac.822C>TSubstitution - coding silent
TBC1D8ENSG00000204634ENST00000376840p.P310Pc.930G>ASubstitution - coding silent
MYADMENSG00000179820ENST00000391768p.L317Lc.949C>TSubstitution - coding silent
ENST00000405167p.T3780Tc.11340C>TSubstitution - coding silent
GAL3ST2ENSG00000154252ENST00000192314p.A75Ac.225C>TSubstitution - coding silent
HOXD3ENSG00000128652ENST00000249440p.S348Gc.1042A>GSubstitution - Missense
USP19ENSG00000172046ENST00000434032p.S901Sc.2703G>ASubstitution - coding silent
HIST1H2AAENSG00000164508ENST00000297012p.G99Gc.297C>TSubstitution - coding silent
TRAIPENSG00000183763ENST00000331456p.L131Lc.391C>TSubstitution - coding silent
RAD54L2ENSG00000164080ENST00000409535p.R547Qc.1640G>ASubstitution - Missense
PBRM1ENSG00000163939ENST00000356770p.E206Kc.616G>ASubstitution - Missense
UBN2ENSG00000157741ENST00000288561p.?c.1581-6G>AUnknown
PEG10ENSG00000242265ENST00000482108p.V48Mc.142G>ASubstitution - Missense
C17orf62ENSG00000178927ENST00000342572p.P96Sc.286C>TSubstitution - Missense
SLC4A11ENSG00000088836ENST00000380059p.S679Sc.2037G>ASubstitution - coding silent
PTPRZ1ENSG00000106278ENST00000393386p.E1821Kc.5461G>ASubstitution - Missense
PXDNLENSG00000147485ENST00000356297p.Q889Qc.2667G>ASubstitution - coding silent
ENST00000166139_v68p.?c.289+5G>AUnknown
PELP1ENSG00000141456ENST00000301396p.D1094Ec.3282T>GSubstitution - Missense
PARP4ENSG00000102699ENST00000381989p.?c.1352+7G>AUnknown
TMEM255BENSG00000184497ENST00000375353p.Y324Cc.971A>GSubstitution - Missense
SMPDL3BENSG00000130768ENST00000373888p.H266Yc.796C>TSubstitution - Missense
DNAJC6ENSG00000116675ENST00000371069p.G44Rc.130G>ASubstitution - Missense
CMPK1ENSG00000162368ENST00000371873p.T62Tc.186A>GSubstitution - coding silent
NEMFENSG00000165525ENST00000298310p.Q338Qc.1014G>ASubstitution - coding silent
UNC79ENSG00000133958ENST00000553484p.P916Hc.2747C>ASubstitution - Missense
WDR53ENSG00000185798ENST00000332629p.G30Gc.90C>TSubstitution - coding silent
PRKDCENSG00000253729ENST00000314191p.G1512Rc.4534G>ASubstitution - Missense
ZNF543ENSG00000178229ENST00000321545p.R518Rc.1554G>ASubstitution - coding silent
CXXC11ENSG00000188011ENST00000343216p.G389Rc.1165G>ASubstitution - Missense
LOXHD1ENSG00000167210ENST00000398722p.A401Tc.1201G>ASubstitution - Missense
PTCD1ENSG00000106246ENST00000292478p.P124Pc.372G>ASubstitution - coding silent
CCDC151ENSG00000198003ENST00000356392p.Q100Qc.300G>ASubstitution - coding silent
SLC37A1ENSG00000160190ENST00000352133p.D310fs*15c.925delGDeletion - Frameshift
URB1ENSG00000142207ENST00000382751p.T1404Ac.4210A>GSubstitution - Missense
SLC13A2ENSG00000007216ENST00000444914p.L143fs*14c.426_427insGInsertion - Frameshift
MYO18AENSG00000196535ENST00000527372p.L1192Vc.3574C>GSubstitution - Missense
ALDH3A1ENSG00000108602ENST00000225740p.E359Ec.1077G>ASubstitution - coding silent
DSC1ENSG00000134765ENST00000257197p.V360Ac.1079T>CSubstitution - Missense
TAS2R16ENSG00000128519ENST00000249284p.A221Ac.663G>ASubstitution - coding silent
NCOA6ENSG00000198646ENST00000374796p.T365Tc.1095G>ASubstitution - coding silent
FLNBENSG00000136068ENST00000490882p.A2313Tc.6937G>ASubstitution - Missense
TRPV2ENSG00000187688ENST00000338560p.E89Ec.267G>ASubstitution - coding silent
PRPS1ENSG00000147224ENST00000372435p.N263Sc.788A>GSubstitution - Missense
ARHGEF18ENSG00000104880ENST00000359920p.T313Tc.939G>ASubstitution - coding silent
MYO16ENSG00000041515ENST00000357550p.P1537Pc.4611G>ASubstitution - coding silent
PPFIBP1ENSG00000110841ENST00000318304p.A825Ac.2475G>ASubstitution - coding silent
PCSK6ENSG00000140479ENST00000348070p.S165Fc.494C>TSubstitution - Missense
KLHDC2ENSG00000165516ENST00000298307p.A30Vc.89C>TSubstitution - Missense
PAPOLAENSG00000090060ENST00000216277p.?c.2005-9T>AUnknown
NAV1ENSG00000134369ENST00000367296p.?c.1226+7G>AUnknown
FOXB1ENSG00000171956ENST00000396057p.G158Gc.474C>TSubstitution - coding silent
PTPRBENSG00000127329ENST00000334414p.T94Ac.280A>GSubstitution - Missense
NR2F2ENSG00000185551ENST00000394166p.S176Pc.526T>CSubstitution - Missense
NOS1APENSG00000198929ENST00000361897p.G450Gc.1350C>TSubstitution - coding silent
CSMD2ENSG00000121904ENST00000241312p.P2487Pc.7461C>TSubstitution - coding silent
KLENSG00000133116ENST00000380099p.V573Vc.1719T>CSubstitution - coding silent
RABGGTAENSG00000100949ENST00000399409p.Q511*c.1531C>TSubstitution - Nonsense
NYNRINENSG00000205978ENST00000382554p.R845Qc.2534G>ASubstitution - Missense
LDB3ENSG00000122367ENST00000361373p.P109Pc.327C>TSubstitution - coding silent
MICAL2ENSG00000133816ENST00000379612p.T24Tc.72G>ASubstitution - coding silent
CR1ENSG00000203710ENST00000367049p.A1579Tc.4735G>ASubstitution - Missense
KIF17ENSG00000117245ENST00000247986p.R882Cc.2644C>TSubstitution - Missense
RDH5ENSG00000135437ENST00000257895p.R126Qc.377G>ASubstitution - Missense
ZSWIM8ENSG00000214655ENST00000398706p.M1811Lc.5431A>CSubstitution - Missense
ZSWIM8ENSG00000214655ENST00000398706p.M1191Lc.3571A>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.R7155*c.21463C>TSubstitution - Nonsense
AUTS2ENSG00000158321ENST00000342771p.V1014Mc.3040G>ASubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.R1401fs*3c.4201delCDeletion - Frameshift
TCF20ENSG00000100207ENST00000359486p.K1579fs*36c.4737delADeletion - Frameshift
CASD1ENSG00000127995ENST00000297273p.A543fs*13c.1619delADeletion - Frameshift
PGAP2ENSG00000148985ENST00000300730p.R306*c.916C>TSubstitution - Nonsense
MGAT5BENSG00000167889ENST00000301618p.R153Wc.457C>TSubstitution - Missense
PRR5ENSG00000186654ENST00000403581p.R176Qc.527G>ASubstitution - Missense
DTNAENSG00000134769ENST00000399121p.R434Wc.1300C>TSubstitution - Missense
POLA1ENSG00000101868ENST00000379059p.R921Wc.2761C>TSubstitution - Missense
PNPLA6ENSG00000032444ENST00000414982p.R562Hc.1685G>ASubstitution - Missense
OVGP1ENSG00000085465ENST00000369732p.R384Wc.1150C>TSubstitution - Missense
LHFPL4ENSG00000156959ENST00000287585p.L105Pc.314T>CSubstitution - Missense
ZNF627ENSG00000198551ENST00000361113p.R141Hc.422G>ASubstitution - Missense
USP2ENSG00000036672ENST00000260187p.R397*c.1189C>TSubstitution - Nonsense
ARHGAP32ENSG00000134909ENST00000310343p.R1760Hc.5279G>ASubstitution - Missense
ABHD14AENSG00000248487ENST00000273596p.S229Lc.686C>TSubstitution - Missense
CACNA1DENSG00000157388ENST00000350061p.V1010Mc.3028G>ASubstitution - Missense
ATP1A3ENSG00000105409ENST00000302102p.E815Kc.2443G>ASubstitution - Missense
GPATCH2ENSG00000092978ENST00000366935p.G433*c.1297G>TSubstitution - Nonsense
MUC13ENSG00000173702ENST00000311075p.M275Ic.825G>ASubstitution - Missense
SEC61A1ENSG00000058262ENST00000243253p.S197Nc.590G>ASubstitution - Missense
SLC25A18ENSG00000182902ENST00000399813p.A238Tc.712G>ASubstitution - Missense
PLAURENSG00000011422ENST00000340093p.A40Tc.118G>ASubstitution - Missense
HALENSG00000084110ENST00000261208p.P598Lc.1793C>TSubstitution - Missense
APAF1ENSG00000120868ENST00000551964p.D1138Nc.3412G>ASubstitution - Missense
AKAP13ENSG00000170776ENST00000361243p.D1181Gc.3542A>GSubstitution - Missense
OR4N2ENSG00000176294ENST00000315947p.K300fs*7c.895delADeletion - Frameshift
EBF3ENSG00000108001ENST00000355311p.R404Rc.1212A>GSubstitution - coding silent
DPY19L2ENSG00000177990ENST00000324472p.F305Fc.915C>TSubstitution - coding silent
LDB3ENSG00000122367ENST00000372056p.P109Pc.327C>TSubstitution - coding silent
ZDHHC16ENSG00000171307ENST00000393760p.K239fs*23c.712_715delAACADeletion - Frameshift
ENST00000349637p.T3468Mc.10403C>TSubstitution - Missense
ENST00000399269p.T177Mc.530C>TSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.A1113Vc.3338C>TSubstitution - Missense
DCDENSG00000161634ENST00000293371p.V105Ic.313G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.G1203Rc.3607G>ASubstitution - Missense
CCDC157ENSG00000187860ENST00000405659p.R122Hc.365G>ASubstitution - Missense
FCN3ENSG00000142748ENST00000270879p.S159Fc.476C>TSubstitution - Missense
COBLL1ENSG00000082438ENST00000342193p.P286Lc.857C>TSubstitution - Missense
MAGED1ENSG00000179222ENST00000375695p.R632Hc.1895G>ASubstitution - Missense
PCDH12ENSG00000113555ENST00000231484p.R1124Cc.3370C>TSubstitution - Missense
FAM84BENSG00000168672ENST00000304916p.D75Nc.223G>ASubstitution - Missense
DLG2ENSG00000150672ENST00000418306p.R662Wc.1984C>TSubstitution - Missense
SLC7A10ENSG00000130876ENST00000253188p.C154Yc.461G>ASubstitution - Missense
SOGA3ENSG00000214338ENST00000368268p.R773Hc.2318G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.R7084*c.21250C>TSubstitution - Nonsense
NLRP7ENSG00000167634ENST00000448121p.D256Vc.767A>TSubstitution - Missense
FGFRL1ENSG00000127418ENST00000398484p.V311Mc.931G>ASubstitution - Missense
DHX33ENSG00000005100ENST00000225296p.R348Hc.1043G>ASubstitution - Missense
COBLENSG00000106078ENST00000395540p.R300Cc.898C>TSubstitution - Missense
HPSEENSG00000173083ENST00000311412p.L401Sc.1202T>CSubstitution - Missense
TRPM2ENSG00000142185ENST00000397928p.F1065Lc.3195C>ASubstitution - Missense
ALAS1ENSG00000023330ENST00000394965p.R465Qc.1394G>ASubstitution - Missense
LRRFIP1ENSG00000124831ENST00000244815p.V561Ic.1681G>ASubstitution - Missense
TNIKENSG00000154310ENST00000436636p.R637Cc.1909C>TSubstitution - Missense
CLMNENSG00000165959ENST00000298912p.A371Ac.1113G>ASubstitution - coding silent
HUNKENSG00000142149ENST00000270112p.K100fs*18c.295delADeletion - Frameshift
FAM120BENSG00000112584ENST00000537664p.R716Hc.2147G>ASubstitution - Missense
BCORL1ENSG00000085185ENST00000303743p.D1643Dc.4929C>TSubstitution - coding silent
FRMPD1ENSG00000070601ENST00000541302p.M304Ic.912G>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000298274p.E419Ec.1257G>ASubstitution - coding silent
RPRD1AENSG00000141425ENST00000590898p.A195Ac.585G>ASubstitution - coding silent
SNX6ENSG00000129515ENST00000362031p.N388Kc.1164T>ASubstitution - Missense
CTAGE5ENSG00000150527ENST00000341502p.Q379Rc.1136A>GSubstitution - Missense
ESR2ENSG00000140009ENST00000557772p.G318Sc.952G>ASubstitution - Missense
PKMENSG00000067225ENST00000449901p.A423Ac.1269T>CSubstitution - coding silent
NLRP7ENSG00000167634ENST00000446217p.A439Tc.1315G>ASubstitution - Missense
OR5R1ENSG00000174942ENST00000312253p.R54Qc.161G>ASubstitution - Missense
TXNRD1ENSG00000198431ENST00000427956p.L493Lc.1479G>ASubstitution - coding silent
DAB2IPENSG00000136848ENST00000259371p.H826Yc.2476C>TSubstitution - Missense
DPP6ENSG00000130226ENST00000404039p.R711Qc.2132G>ASubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.L926Lc.2778A>GSubstitution - coding silent
KIAA1211ENSG00000109265ENST00000264229p.S1139Nc.3416G>ASubstitution - Missense
ZEB2ENSG00000169554ENST00000303660p.C1004Rc.3010T>CSubstitution - Missense
HLA-FENSG00000204642ENST00000376861p.?c.335-10G>AUnknown
DYRK1BENSG00000105204ENST00000593685p.C490Yc.1469G>ASubstitution - Missense
PCDHB6ENSG00000113211ENST00000231136p.E226Kc.676G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.H547Hc.1641C>TSubstitution - coding silent
C8orf76ENSG00000189376ENST00000276704p.S3Sc.9C>TSubstitution - coding silent
FBN2ENSG00000138829ENST00000508053p.I1651Vc.4951A>GSubstitution - Missense
ASCC3ENSG00000112249ENST00000369162p.A2Tc.4G>ASubstitution - Missense
NHSL2ENSG00000204131ENST00000540800p.L775Lc.2325G>ASubstitution - coding silent
PNPLA3ENSG00000100344ENST00000216180p.S78Ic.233G>TSubstitution - Missense
NYAP1ENSG00000166924ENST00000300179p.H72Pc.215A>CSubstitution - Missense
VKORC1L1ENSG00000196715ENST00000360768p.W55fs*2c.156delGDeletion - Frameshift
PLXND1ENSG00000004399ENST00000324093p.S1474Lc.4421C>TSubstitution - Missense
PODXL2ENSG00000114631ENST00000342480p.Y498Yc.1494C>TSubstitution - coding silent
TTLL9ENSG00000131044ENST00000310998p.R205Hc.614G>ASubstitution - Missense
TSHZ1ENSG00000179981ENST00000580243p.L235Fc.703C>TSubstitution - Missense
KIF21BENSG00000116852ENST00000422435p.?c.4161-10C>TUnknown
OR4C13ENSG00000258817ENST00000555099p.L84Pc.251T>CSubstitution - Missense
MYRFENSG00000124920ENST00000327797p.E40Kc.118G>ASubstitution - Missense
DCP1BENSG00000151065ENST00000397173p.G243Dc.728G>ASubstitution - Missense
ENST00000266544_v70p.R85Qc.254G>ASubstitution - Missense
ENST00000371287p.H348Rc.1043A>GSubstitution - Missense
FETUBENSG00000090512ENST00000265029p.T292fs*18c.865_866insCInsertion - Frameshift
SH3GLB2ENSG00000148341ENST00000372559p.H254Hc.762C>TSubstitution - coding silent
NUP214ENSG00000126883ENST00000359428p.?c.592+8A>GUnknown
ARID5BENSG00000150347ENST00000309334p.P671Pc.2013G>ASubstitution - coding silent
PKHD1ENSG00000170927ENST00000371117p.Q3989Qc.11967G>ASubstitution - coding silent
PLIN4ENSG00000167676ENST00000301286p.R115Qc.344G>ASubstitution - Missense
JMJD8ENSG00000161999ENST00000293882p.R287Wc.859C>TSubstitution - Missense
ENST00000257721p.R42Hc.125G>ASubstitution - Missense
ACTN4ENSG00000130402ENST00000252699p.E765Ec.2295G>ASubstitution - coding silent
LAMTOR4ENSG00000188186ENST00000341942p.D14Nc.40G>ASubstitution - Missense
GRHL2ENSG00000083307ENST00000251808p.S281Gc.841A>GSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.L102Pc.305T>CSubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.Q808Qc.2424G>ASubstitution - coding silent
ENST00000328088p.K5fs*6c.10delADeletion - Frameshift
ZNF292ENSG00000188994ENST00000339907p.N266Kc.798T>ASubstitution - Missense
ENPP3ENSG00000154269ENST00000427148p.C55Yc.164G>ASubstitution - Missense
PCDHGA3ENSG00000254245ENST00000253812p.V643Mc.1927G>ASubstitution - Missense
VDAC1ENSG00000213585ENST00000395044p.R120Qc.359G>ASubstitution - Missense
CSPG5ENSG00000114646ENST00000264723p.T112Tc.336C>TSubstitution - coding silent
DAAM2ENSG00000146122ENST00000538976p.R1058Qc.3173G>ASubstitution - Missense
CTAG2ENSG00000126890ENST00000247306p.A69Tc.205G>ASubstitution - Missense
GREB1ENSG00000196208ENST00000381486p.Y907Sc.2720A>CSubstitution - Missense
RETSATENSG00000042445ENST00000295802p.V71Vc.213G>TSubstitution - coding silent
SOWAHCENSG00000198142ENST00000356454p.A406Vc.1217C>TSubstitution - Missense
LRRTM1ENSG00000162951ENST00000295057p.S37Sc.111C>TSubstitution - coding silent
CCDC109BENSG00000005059ENST00000394650p.V54Mc.160G>ASubstitution - Missense
ZNF416ENSG00000083817ENST00000196489p.L313Lc.939C>TSubstitution - coding silent
PPA2ENSG00000138777ENST00000341695p.S313Lc.938C>TSubstitution - Missense
BREENSG00000158019ENST00000344773p.P374fs*>42c.1119delCDeletion - Frameshift
MYH2ENSG00000125414ENST00000245503p.E693Kc.2077G>ASubstitution - Missense
ENST00000375935p.R200Hc.599G>ASubstitution - Missense
XM_496642.1p.S888Sc.2664G>ASubstitution - coding silent
RMND5AENSG00000153561ENST00000283632p.S283Gc.847A>GSubstitution - Missense
NM_016231p.?c.552+7G>AUnknown
ITGB4ENSG00000132470ENST00000200181p.E995Gc.2984A>GSubstitution - Missense
SHANK1ENSG00000161681ENST00000391813p.A938Tc.2812G>ASubstitution - Missense
APBA1ENSG00000107282ENST00000265381p.P319Pc.957G>ASubstitution - coding silent
CPA6ENSG00000165078ENST00000297770p.T115Tc.345A>CSubstitution - coding silent
AMELXENSG00000125363ENST00000380712p.H25Rc.74A>GSubstitution - Missense
PNPLA6ENSG00000032444ENST00000221249p.V691Vc.2073G>ASubstitution - coding silent
ENST00000356127p.V4283Vc.12849C>TSubstitution - coding silent
TLE3ENSG00000140332ENST00000317509p.A258Tc.772G>ASubstitution - Missense
TEAD4ENSG00000197905ENST00000359864p.R360Hc.1079G>ASubstitution - Missense
ENST00000389961_v65p.L1079Lc.3237A>GSubstitution - coding silent
SYNE3ENSG00000176438ENST00000334258p.A709Ac.2127G>ASubstitution - coding silent
RBFOX1ENSG00000078328ENST00000550418p.T80Mc.239C>TSubstitution - Missense
FAM214AENSG00000047346ENST00000261844p.S355Pc.1063T>CSubstitution - Missense
FOXB1ENSG00000171956ENST00000396057p.G158Gc.474C>TSubstitution - coding silent
IQSEC3ENSG00000120645ENST00000382841p.A517Gc.1550C>GSubstitution - Missense
CLCC1ENSG00000121940ENST00000369970p.S36Sc.108A>GSubstitution - coding silent
EDEM3ENSG00000116406ENST00000318130p.R678Cc.2032C>TSubstitution - Missense
CCDC84ENSG00000186166ENST00000334418p.A127Vc.380C>TSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.R2312Hc.6935G>ASubstitution - Missense
SCYL1ENSG00000142186ENST00000270176p.A54Tc.160G>ASubstitution - Missense
HSP90B1ENSG00000166598ENST00000299767p.?c.49+7G>AUnknown
TXNRD1ENSG00000198431ENST00000525566p.L528Lc.1584G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.S1768Lc.5303C>TSubstitution - Missense
IL32ENSG00000008517ENST00000525377p.W48*c.143G>ASubstitution - Nonsense
TTNENSG00000155657ENST00000342992p.A29419Ac.88257C>TSubstitution - coding silent
ENST00000313266p.V59Mc.175G>ASubstitution - Missense
RBBP8ENSG00000101773ENST00000327155p.A741Vc.2222C>TSubstitution - Missense
NLRP7ENSG00000167634ENST00000328092p.A411Tc.1231G>ASubstitution - Missense
SONENSG00000159140ENST00000300278p.R1928Qc.5783G>ASubstitution - Missense
LGALS9ENSG00000168961ENST00000395473p.?c.333+1G>AUnknown
BRIP1ENSG00000136492ENST00000259008p.G290Vc.869G>TSubstitution - Missense
PER1ENSG00000179094ENST00000317276p.R274Hc.821G>ASubstitution - Missense
DSG1ENSG00000134760ENST00000257192p.Y230Yc.690C>TSubstitution - coding silent
FLNBENSG00000136068ENST00000295956p.A2282Tc.6844G>ASubstitution - Missense
XM_373367.2p.P198Pc.594C>TSubstitution - coding silent
PNPLA6ENSG00000032444ENST00000414982p.V739Vc.2217G>ASubstitution - coding silent
UNC13DENSG00000092929ENST00000207549p.Q9Rc.26A>GSubstitution - Missense
TBKBP1ENSG00000198933ENST00000361722p.Q172Qc.516G>ASubstitution - coding silent
ENO3ENSG00000108515ENST00000323997p.L279Lc.835C>TSubstitution - coding silent
RPAP1ENSG00000103932ENST00000304330p.R881Cc.2641C>TSubstitution - Missense
GAS6ENSG00000183087ENST00000327773p.?c.466+4C>TUnknown
ENST00000389961_v65p.R1229Gc.3685A>GSubstitution - Missense
RBFOX1ENSG00000078328ENST00000355637p.T91Tc.273G>ASubstitution - coding silent
ATAD3AENSG00000197785ENST00000378755p.Q81Qc.243G>ASubstitution - coding silent
IQSEC3ENSG00000120645ENST00000382841p.S12Pc.34T>CSubstitution - Missense
UBR4ENSG00000127481ENST00000375254p.E3313Dc.9939G>CSubstitution - Missense
DIP2CENSG00000151240ENST00000280886p.R106Qc.317G>ASubstitution - Missense
C11orf52ENSG00000149300ENST00000278601p.E91Kc.271G>ASubstitution - Missense
ATMENSG00000149311ENST00000278616p.?c.3577-6G>AUnknown
CACNA1HENSG00000196557ENST00000358590p.?c.3744+8C>TUnknown
NM_001271.1p.?c.1720-7C>TUnknown
LTBP3ENSG00000168056ENST00000322147p.R612Hc.1835G>ASubstitution - Missense
TRIM62ENSG00000116525ENST00000291416p.V350Ic.1048G>ASubstitution - Missense
NKAIN1ENSG00000084628ENST00000373736p.A21Vc.62C>TSubstitution - Missense
PAX2ENSG00000075891ENST00000361791p.H62Hc.186C>TSubstitution - coding silent
AENENSG00000181026ENST00000332810p.R157Hc.470G>ASubstitution - Missense
ZFHX2ENSG00000136367ENST00000419474p.L775Lc.2325C>GSubstitution - coding silent
LRP1ENSG00000123384ENST00000243077p.?c.11194+8G>AUnknown
TRIM67ENSG00000119283ENST00000366653p.T302Mc.905C>TSubstitution - Missense
RRP12ENSG00000052749ENST00000370992p.G1112Gc.3336C>TSubstitution - coding silent
GUK1ENSG00000143774ENST00000366716p.S10Sc.30C>TSubstitution - coding silent
PFKFB2ENSG00000123836ENST00000367080p.F348fs*66c.1042delTDeletion - Frameshift
ENSG00000258311ENST00000257899p.L112Lc.334C>TSubstitution - coding silent
CD6ENSG00000013725ENST00000313421p.G166Sc.496G>ASubstitution - Missense
CIPCENSG00000198894ENST00000361786p.P212Hc.635C>ASubstitution - Missense
ALAS2ENSG00000158578ENST00000396198p.R498Wc.1492C>TSubstitution - Missense
DLG2ENSG00000150672ENST00000376104p.R888Wc.2662C>TSubstitution - Missense
TJP3ENSG00000105289ENST00000262968p.R273Wc.817C>TSubstitution - Missense
LRRC8EENSG00000171017ENST00000306708p.R790Wc.2368C>TSubstitution - Missense
PPLENSG00000118898ENST00000345988p.R1655Wc.4963C>TSubstitution - Missense
MAN1A1ENSG00000111885ENST00000368468p.G485Rc.1453G>ASubstitution - Missense
ADCY5ENSG00000173175ENST00000462833p.V1203Mc.3607G>ASubstitution - Missense
NM_016575.1p.E337Dc.1011G>CSubstitution - Missense
NM_144967.2p.R439Rc.1317C>TSubstitution - coding silent
CLDN3ENSG00000165215ENST00000395145p.V84Mc.250G>ASubstitution - Missense
CAMK2GENSG00000148660ENST00000322680p.H115Nc.343C>ASubstitution - Missense
LLGL1ENSG00000131899ENST00000316843p.R190Hc.569G>ASubstitution - Missense
TSSK6ENSG00000178093ENST00000360913p.R226Hc.677G>ASubstitution - Missense
USP5ENSG00000111667ENST00000229268p.R432Wc.1294C>TSubstitution - Missense
ARFGEF1ENSG00000066777ENST00000262215p.I1169fs*1c.3505delADeletion - Frameshift
STAMBPL1ENSG00000138134ENST00000371927p.K405fs*22c.1207delADeletion - Frameshift
CTCFENSG00000102974ENST00000264010p.R377Cc.1129C>TSubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.G4439Rc.13315G>ASubstitution - Missense
NCAPG2ENSG00000146918ENST00000409423p.S636Sc.1908T>CSubstitution - coding silent
C20orf26ENSG00000089101ENST00000389656p.T159Tc.477G>ASubstitution - coding silent
ASXL1ENSG00000171456ENST00000306058p.T552Tc.1656C>TSubstitution - coding silent
RASSF9ENSG00000198774ENST00000361228p.S261Sc.783C>TSubstitution - coding silent
CDC42BPAENSG00000143776ENST00000366767p.S1625Ic.4874G>TSubstitution - Missense
KIAA0355ENSG00000166398ENST00000299505p.Q777Hc.2331G>CSubstitution - Missense
RAB14ENSG00000119396ENST00000373840p.R72Qc.215G>ASubstitution - Missense
DAB2IPENSG00000136848ENST00000309989p.P662Lc.1985C>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.R248Qc.743G>ASubstitution - Missense
GLI1ENSG00000111087ENST00000228682p.R372Cc.1114C>TSubstitution - Missense
OTOFENSG00000115155ENST00000272371p.R970Hc.2909G>ASubstitution - Missense
RHOT1ENSG00000126858ENST00000358365p.R691*c.2071C>TSubstitution - Nonsense
TSHZ2ENSG00000182463ENST00000371497p.A1008Vc.3023C>TSubstitution - Missense
ENST00000389520_v65p.T1885Tc.5655C>TSubstitution - coding silent
CECR2ENSG00000099954ENST00000400585p.R889Cc.2665C>TSubstitution - Missense
NINJ2ENSG00000171840ENST00000305108p.R135Wc.403C>TSubstitution - Missense
MKXENSG00000150051ENST00000375790p.G69Rc.205G>ASubstitution - Missense
SSFA2ENSG00000138434ENST00000431877p.G886Rc.2656G>ASubstitution - Missense
URB2ENSG00000135763ENST00000258243p.L1076Pc.3227T>CSubstitution - Missense
ZNF398ENSG00000197024ENST00000475153p.R530Qc.1589G>ASubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.R2537Cc.7609C>TSubstitution - Missense
COL5A2ENSG00000204262ENST00000374866p.R1067Cc.3199C>TSubstitution - Missense
FGF18ENSG00000156427ENST00000274625p.R76Rc.228C>TSubstitution - coding silent
PDE3AENSG00000172572ENST00000359062p.S1110Sc.3330G>ASubstitution - coding silent
ENST00000287468_v65p.A181Tc.541G>ASubstitution - Missense
ADAM7ENSG00000069206ENST00000175238p.N541Hc.1621A>CSubstitution - Missense
CAMSAP1ENSG00000130559ENST00000409386p.R1338Qc.4013G>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.R175Hc.524G>ASubstitution - Missense
TNIKENSG00000154310ENST00000436636p.R637Cc.1909C>TSubstitution - Missense
MAP3K3ENSG00000198909ENST00000361733p.R277Wc.829C>TSubstitution - Missense
TTC21AENSG00000168026ENST00000431162p.R1127Wc.3379C>TSubstitution - Missense
BCAP29ENSG00000075790ENST00000445771p.W114fs*2c.334delTDeletion - Frameshift
STAT5AENSG00000126561ENST00000452307p.?c.2054-7T>CUnknown
BCAP29ENSG00000075790ENST00000379121p.W20fs*2c.52delTDeletion - Frameshift
PCNTENSG00000160299ENST00000359568p.?c.1936+2T>GUnknown
CTAGE5ENSG00000150527ENST00000341749p.Q367Rc.1100A>GSubstitution - Missense
ESR2ENSG00000140009ENST00000357782p.G318Sc.952G>ASubstitution - Missense
CACNA1HENSG00000196557ENST00000348261p.?c.3744+8C>TUnknown
GTPBP3ENSG00000130299ENST00000361619p.?c.1041-4G>AUnknown
MYRFENSG00000124920ENST00000278836p.E413Kc.1237G>ASubstitution - Missense
OTUB1ENSG00000167770ENST00000543004p.Y275Yc.825C>TSubstitution - coding silent
ENST00000458043_v65p.C1518Rc.4552T>CSubstitution - Missense
NSMFENSG00000165802ENST00000392812p.V321Mc.961G>ASubstitution - Missense
PHYKPLENSG00000175309ENST00000308158p.G61Gc.183G>ASubstitution - coding silent
ITPKCENSG00000086544ENST00000263370p.P334Lc.1001C>TSubstitution - Missense
DYRK1BENSG00000105204ENST00000348817p.C462Yc.1385G>ASubstitution - Missense
DPP6ENSG00000130226ENST00000332007p.R713Qc.2138G>ASubstitution - Missense
JPH2ENSG00000149596ENST00000372980p.G103Sc.307G>ASubstitution - Missense
KCNJ3ENSG00000162989ENST00000295101p.H57Hc.171C>TSubstitution - coding silent
ENST00000309900p.P79Pc.237C>TSubstitution - coding silent
ABCA13ENSG00000179869ENST00000435803p.A3633Vc.10898C>TSubstitution - Missense
DGKBENSG00000136267ENST00000403951p.?c.1930-9A>GUnknown
LAMB4ENSG00000091128ENST00000205386p.?c.1180+10C>TUnknown
DDX39BENSG00000198563ENST00000396172p.Q72Qc.216G>ASubstitution - coding silent
ZSCAN23ENSG00000187987ENST00000289788p.R235Ic.704G>TSubstitution - Missense
CDR1ENSG00000184258ENST00000370532p.T103Mc.308C>TSubstitution - Missense
SLFN11ENSG00000172716ENST00000394566p.S708Nc.2123G>ASubstitution - Missense
RSPO3ENSG00000146374ENST00000356698p.?c.437-3C>AUnknown
MAGEE1ENSG00000198934ENST00000361470p.P256Pc.768G>ASubstitution - coding silent
SPINK8ENSG00000229453ENST00000434006p.A19Dc.56C>ASubstitution - Missense
FBRSENSG00000156860ENST00000356166p.Q591*c.1771C>TSubstitution - Nonsense
WDR52ENSG00000206530ENST00000393845p.F943Sc.2828T>CSubstitution - Missense
NM_014614.1p.D1720Nc.5158G>ASubstitution - Missense
ABCB4ENSG00000005471ENST00000359206p.R1224Cc.3670C>TSubstitution - Missense
UVSSAENSG00000163945ENST00000389851p.S478Nc.1433G>ASubstitution - Missense
TMEM208ENSG00000168701ENST00000304800p.Q14*c.40C>TSubstitution - Nonsense
SLC9A9ENSG00000181804ENST00000316549p.A269Tc.805G>ASubstitution - Missense
INPP5EENSG00000148384ENST00000371712p.R486Cc.1456C>TSubstitution - Missense
NM_014866.1p.S1413Nc.4238G>ASubstitution - Missense
REV3LENSG00000009413ENST00000358835p.L27fs*62c.73_74insCInsertion - Frameshift
REXO1ENSG00000079313ENST00000170168p.S776Sc.2328G>ASubstitution - coding silent
HAUS6ENSG00000147874ENST00000380502p.M354Ic.1062G>ASubstitution - Missense
TEAD3ENSG00000007866ENST00000338863p.P204Pc.612G>ASubstitution - coding silent
SETD1AENSG00000099381ENST00000262519p.K803Kc.2409G>ASubstitution - coding silent
ENST00000358511_v70p.T432Ic.1295C>TSubstitution - Missense
DMDENSG00000198947ENST00000357033p.Q2075*c.6223C>TSubstitution - Nonsense
SEMA3AENSG00000075213ENST00000265362p.T329Mc.986C>TSubstitution - Missense
SUN1ENSG00000164828ENST00000456758p.H176Hc.528C>TSubstitution - coding silent
SUN1ENSG00000164828ENST00000401592p.T121Ac.361A>GSubstitution - Missense
PIGQENSG00000007541ENST00000026218p.G547Gc.1641A>GSubstitution - coding silent
BMP3ENSG00000152785ENST00000282701p.A396Gc.1187C>GSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.P668Pc.2004G>ASubstitution - coding silent
ZNF512BENSG00000196700ENST00000369888p.?c.2265+7G>AUnknown
ANKMY1ENSG00000144504ENST00000391987p.L376Lc.1126C>TSubstitution - coding silent
GAREMLENSG00000157833ENST00000401533p.Y141Hc.421T>CSubstitution - Missense
ARMC5ENSG00000140691ENST00000408912p.P590Lc.1769C>TSubstitution - Missense
CA5AENSG00000174990ENST00000309893p.W159Rc.475T>CSubstitution - Missense
ENST00000433231p.S179Fc.536C>TSubstitution - Missense
NLRP7ENSG00000167634ENST00000448121p.A420Ac.1260G>ASubstitution - coding silent
TGM6ENSG00000166948ENST00000202625p.S494Nc.1481G>ASubstitution - Missense
ARHGEF10ENSG00000104728ENST00000398560p.L181Lc.541C>TSubstitution - coding silent
ZNF251ENSG00000198169ENST00000292562p.R326Kc.977G>ASubstitution - Missense
PEX1ENSG00000127980ENST00000248633p.A123Gc.368C>GSubstitution - Missense
UBN1ENSG00000118900ENST00000396658p.F817Fc.2451C>TSubstitution - coding silent
PCBP3ENSG00000183570ENST00000400314p.R156Gc.466A>GSubstitution - Missense
LOXL2ENSG00000134013ENST00000389131p.?c.1997-8G>AUnknown
C17orf62ENSG00000178927ENST00000342572p.A226Vc.677C>TSubstitution - Missense
TGM2ENSG00000198959ENST00000361475p.?c.860-3C>AUnknown
MROH8ENSG00000101353ENST00000400441p.R339Wc.1015C>TSubstitution - Missense
FRMPD1ENSG00000070601ENST00000377765p.M435Ic.1305G>ASubstitution - Missense
EFNB3ENSG00000108947ENST00000226091p.?c.123-10C>TUnknown
SIGLEC7ENSG00000168995ENST00000317643p.D389Dc.1167C>TSubstitution - coding silent
GNASENSG00000087460ENST00000371100p.A259Tc.775G>ASubstitution - Missense
PARD3BENSG00000116117ENST00000358768p.P1084Lc.3251C>TSubstitution - Missense
RNF128ENSG00000133135ENST00000324342p.A109Ac.327G>ASubstitution - coding silent
ENST00000339740p.D445Dc.1335C>TSubstitution - coding silent
UNC79ENSG00000133958ENST00000553484p.?c.1352+8G>AUnknown
UNC79ENSG00000133958ENST00000256339p.P739Hc.2216C>ASubstitution - Missense
ENSG00000273259ENST00000393078p.A83Tc.247G>ASubstitution - Missense
CNTNAP4ENSG00000152910ENST00000307431p.H53Nc.157C>ASubstitution - Missense
FYBENSG00000082074ENST00000351578p.K373Ec.1117A>GSubstitution - Missense
HCN3ENSG00000143630ENST00000368358p.R583Qc.1748G>ASubstitution - Missense
RAD54LENSG00000085999ENST00000442598p.L664Pc.1991T>CSubstitution - Missense
SCUBE2ENSG00000175356ENST00000309263p.G818Gc.2454G>ASubstitution - coding silent
NOTCH2NLENSG00000213240ENST00000344859p.R33Hc.98G>ASubstitution - Missense
PTPRBENSG00000127329ENST00000334414p.R874Cc.2620C>TSubstitution - Missense
ENST00000358546p.N45Dc.133A>GSubstitution - Missense
ENST00000395293p.T426Tc.1278G>ASubstitution - coding silent
FESENSG00000182511ENST00000328850p.T595Tc.1785G>ASubstitution - coding silent
ENST00000333475p.K169fs*24c.500delADeletion - Frameshift
PRAMEF1ENSG00000116721ENST00000332296p.T246Tc.738G>ASubstitution - coding silent
SU_CRIKp.P1703Pc.5109C>TSubstitution - coding silent
DDR2ENSG00000162733ENST00000367922p.V250Mc.748G>ASubstitution - Missense
ATG2AENSG00000110046ENST00000377264p.S1312Sc.3936C>TSubstitution - coding silent
PCNXL3ENSG00000197136ENST00000355703p.R410Qc.1229G>ASubstitution - Missense
CD6ENSG00000013725ENST00000313421p.R343Wc.1027C>TSubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.K4448Nc.13344G>CSubstitution - Missense
COG2ENSG00000135775ENST00000366669p.R138Qc.413G>ASubstitution - Missense
POU6F1ENSG00000184271ENST00000333640p.I117Vc.349A>GSubstitution - Missense
WDR93ENSG00000140527ENST00000268130p.L301fs*41c.897delCDeletion - Frameshift
TBRG1ENSG00000154144ENST00000284290p.G184Gc.552G>ASubstitution - coding silent
SCUBE2ENSG00000175356ENST00000457346p.G847Gc.2541G>ASubstitution - coding silent
UNC13CENSG00000137766ENST00000260323p.Q1721Qc.5163G>ASubstitution - coding silent
KNOP1ENSG00000103550ENST00000219837p.R341Hc.1022G>ASubstitution - Missense
ENST00000309584p.E228Gc.683A>GSubstitution - Missense
CHIAENSG00000134216ENST00000369740p.N413Nc.1239C>TSubstitution - coding silent
PTPRBENSG00000127329ENST00000261266p.R656Cc.1966C>TSubstitution - Missense
FESENSG00000182511ENST00000328850p.T595Tc.1785G>ASubstitution - coding silent
ATMENSG00000149311ENST00000278616p.?c.3577-6G>AUnknown
MUC2ENSG00000198788ENST00000441003p.T786Mc.2357C>TSubstitution - Missense
PTPRUENSG00000060656ENST00000460170p.A187Tc.559G>ASubstitution - Missense
IQCCENSG00000160051ENST00000537469p.R264Cc.790C>TSubstitution - Missense
TJP1ENSG00000104067ENST00000346128p.R165fs*18c.493_494delAGDeletion - Frameshift
NUDT5ENSG00000165609ENST00000491614p.A109Tc.325G>ASubstitution - Missense
CARNS1ENSG00000172508ENST00000307823p.H83Rc.248A>GSubstitution - Missense
CARNS1ENSG00000172508ENST00000445895p.S750Sc.2250C>TSubstitution - coding silent
DDB1ENSG00000167986ENST00000301764p.D366Gc.1097A>GSubstitution - Missense
UBXN1ENSG00000162191ENST00000294119p.H58Yc.172C>TSubstitution - Missense
DAGLAENSG00000134780ENST00000257215p.K670fs*12c.2004delGDeletion - Frameshift
NUMA1ENSG00000137497ENST00000393695p.A966Ac.2898G>ASubstitution - coding silent
OR10A6ENSG00000175393ENST00000309838p.R308*c.922C>TSubstitution - Nonsense
ENST00000366719p.R102Qc.305G>ASubstitution - Missense
TNRC18ENSG00000182095ENST00000430969p.V1270Mc.3808G>ASubstitution - Missense
PDZD2ENSG00000133401ENST00000282493p.T569Mc.1706C>TSubstitution - Missense
PGAP2ENSG00000148985ENST00000278243p.R314*c.940C>TSubstitution - Nonsense
PIWIL3ENSG00000184571ENST00000332271p.R723Qc.2168G>ASubstitution - Missense
ESR2ENSG00000140009ENST00000341099p.G318Sc.952G>ASubstitution - Missense
HSPA2ENSG00000126803ENST00000394709p.R272Cc.814C>TSubstitution - Missense
THBS4ENSG00000113296ENST00000350881p.S624Fc.1871C>TSubstitution - Missense
ZCCHC13ENSG00000187969ENST00000339534p.G116Sc.346G>ASubstitution - Missense
AGXTENSG00000172482ENST00000307503p.R118Hc.353G>ASubstitution - Missense
CD163ENSG00000177575ENST00000396620p.R617Hc.1850G>ASubstitution - Missense
DFNB31ENSG00000095397ENST00000374059p.T174Mc.521C>TSubstitution - Missense
MYH15ENSG00000144821ENST00000273353p.R165*c.493C>TSubstitution - Nonsense
GIT2ENSG00000139436ENST00000355312p.V395Mc.1183G>ASubstitution - Missense
NM_006312.2p.E1335Kc.4003G>ASubstitution - Missense
GFAPENSG00000131095ENST00000435360p.T302Mc.905C>TSubstitution - Missense
ZFP3ENSG00000180787ENST00000318833p.R186Qc.557G>ASubstitution - Missense
TANC2ENSG00000170921ENST00000389520p.T1885Tc.5655C>TSubstitution - coding silent
NUMA1ENSG00000137497ENST00000393695p.R744*c.2230C>TSubstitution - Nonsense
ALKENSG00000171094ENST00000389048p.R1209*c.3625C>TSubstitution - Nonsense
ZNF695ENSG00000197472ENST00000339986p.P211Pc.633G>ASubstitution - coding silent
TNK1ENSG00000174292ENST00000570896p.V597Vc.1791G>ASubstitution - coding silent
ACTN1ENSG00000072110ENST00000394419p.A884Tc.2650G>ASubstitution - Missense
USP15ENSG00000135655ENST00000280377p.K783fs*4c.2344delADeletion - Frameshift
SHFENSG00000138606ENST00000318390p.R298*c.892C>TSubstitution - Nonsense
TAOK2ENSG00000149930ENST00000416441p.?c.1270-6G>AUnknown
NOMO3ENSG00000103226ENST00000538468p.A432Tc.1294G>ASubstitution - Missense
GSNENSG00000148180ENST00000373823p.K226fs*50c.672delCDeletion - Frameshift
TENM3ENSG00000218336ENST00000511685p.E517Gc.1550A>GSubstitution - Missense
DCAF15ENSG00000132017ENST00000254337p.?c.474-3_474-2insCUnknown
KIAA1671ENSG00000197077ENST00000358431p.R586Hc.1757G>ASubstitution - Missense
UBE3CENSG00000009335ENST00000348165p.?c.343-9C>TUnknown
ACVR1ENSG00000115170ENST00000263640p.C37fs*1c.111_112delTGDeletion - Frameshift
ZNF335ENSG00000198026ENST00000322927p.R657Hc.1970G>ASubstitution - Missense
URGCPENSG00000106608ENST00000453200p.S28Pc.82T>CSubstitution - Missense
INHBAENSG00000122641ENST00000242208p.S288Lc.863C>TSubstitution - Missense
DYRK1BENSG00000105204ENST00000348817p.T167Tc.501G>ASubstitution - coding silent
SLC25A2ENSG00000120329ENST00000239451p.Q246*c.736C>TSubstitution - Nonsense
ENST00000316490p.P2400Pc.7200C>TSubstitution - coding silent
USP13ENSG00000058056ENST00000263966p.I633fs*5c.1889_1890insCInsertion - Frameshift
PCDHB4ENSG00000081818ENST00000194152p.P673Pc.2019T>CSubstitution - coding silent
KRT14ENSG00000186847ENST00000167586p.R288Cc.862C>TSubstitution - Missense
RAB5CENSG00000108774ENST00000346213p.R4Qc.11G>ASubstitution - Missense
MRPS2ENSG00000122140ENST00000371785p.V81Mc.241G>ASubstitution - Missense
SLC25A25ENSG00000148339ENST00000373064p.D374Dc.1122C>TSubstitution - coding silent
CYP39A1ENSG00000146233ENST00000275016p.R23Wc.67C>TSubstitution - Missense
NEBENSG00000183091ENST00000427231p.P4093Lc.12278C>TSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
CAV2ENSG00000105971ENST00000222693p.T63Tc.189G>ASubstitution - coding silent
ZFAND2AENSG00000178381ENST00000316495p.G69Gc.207C>TSubstitution - coding silent
FAM134BENSG00000154153ENST00000306320p.N158Nc.474T>CSubstitution - coding silent
HNRNPUL1ENSG00000105323ENST00000392006p.T546Tc.1638C>TSubstitution - coding silent
ENST00000319589p.S5Lc.14C>TSubstitution - Missense
ZNF398ENSG00000197024ENST00000475153p.I499Ic.1497C>TSubstitution - coding silent
ZNF420ENSG00000197050ENST00000337995p.S628Sc.1884A>TSubstitution - coding silent
FAM101BENSG00000183688ENST00000329099p.R117Hc.350G>ASubstitution - Missense
MMS22LENSG00000146263ENST00000275053p.T1198Tc.3594T>ASubstitution - coding silent
PCDHB5ENSG00000113209ENST00000231134p.R229Rc.687C>TSubstitution - coding silent
RALGDSENSG00000160271ENST00000542690p.H123Hc.369T>CSubstitution - coding silent
SLC6A7ENSG00000011083ENST00000230671p.G58Gc.174G>ASubstitution - coding silent
PCDH11XENSG00000102290ENST00000504220p.E419Ec.1257G>ASubstitution - coding silent
RTTNENSG00000176225ENST00000255674p.?c.4565-10G>AUnknown
CCRL2ENSG00000121797ENST00000399036p.T5Tc.15G>ASubstitution - coding silent
DCTPP1ENSG00000179958ENST00000319285p.R35Hc.104G>ASubstitution - Missense
RELENSG00000162924ENST00000295025p.G392Gc.1176G>ASubstitution - coding silent
FOXP4ENSG00000137166ENST00000373060p.A259Tc.775G>ASubstitution - Missense
PEX6ENSG00000124587ENST00000304611p.L605Lc.1815G>ASubstitution - coding silent
ZNF736ENSG00000234444ENST00000355095p.S375Rc.1123A>CSubstitution - Missense
OBSL1ENSG00000124006ENST00000404537p.A1001Tc.3001G>ASubstitution - Missense
LRRTM1ENSG00000162951ENST00000417012p.S37Sc.111C>TSubstitution - coding silent
FAM65AENSG00000039523ENST00000379312p.G541Sc.1621G>ASubstitution - Missense
KIAA1244ENSG00000112379ENST00000251691p.G2058fs*13c.6170delGDeletion - Frameshift
SDHAENSG00000073578ENST00000264932p.A488Tc.1462G>ASubstitution - Missense
SLC12A7ENSG00000113504ENST00000264930p.A959Vc.2876C>TSubstitution - Missense
LOXL3ENSG00000115318ENST00000264094p.A277fs*57c.816_817insGInsertion - Frameshift
ENKD1ENSG00000124074ENST00000243878p.E329Ec.987G>ASubstitution - coding silent
RAB11FIP1ENSG00000156675ENST00000330843p.?c.3633+3A>GUnknown
RAB11FIP1ENSG00000156675ENST00000330843p.D669Vc.2006A>TSubstitution - Missense
WHSC1L1ENSG00000147548ENST00000317025p.A458Ac.1374G>ASubstitution - coding silent
CRYBB3ENSG00000100053ENST00000215855p.D185Dc.555C>TSubstitution - coding silent
GAL3ST2ENSG00000154252ENST00000192314p.I70Ic.210C>TSubstitution - coding silent
SHISA6ENSG00000188803ENST00000441885p.G428fs*65c.1280delGDeletion - Frameshift
ENST00000420275p.R79Hc.236G>ASubstitution - Missense
LRRCC1ENSG00000133739ENST00000414626p.A554Ac.1662G>ASubstitution - coding silent
ENST00000273612p.?c.1255-10A>TUnknown
ENTHD2ENSG00000167302ENST00000300714p.M153Ic.459G>ASubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.T46fs*3c.131_132insCInsertion - Frameshift
ROBO1ENSG00000169855ENST00000464233p.T46fs*3c.131_132insCInsertion - Frameshift
PRKCDENSG00000163932ENST00000394729p.R444Cc.1330C>TSubstitution - Missense
PRKCDENSG00000163932ENST00000394729p.R444Cc.1330C>TSubstitution - Missense
LRRC37A3ENSG00000176809ENST00000319651p.C1514Yc.4541G>ASubstitution - Missense
HEXDCENSG00000169660ENST00000337014p.S345Sc.1035C>TSubstitution - coding silent
ACSS2ENSG00000131069ENST00000360596p.L448Lc.1342C>TSubstitution - coding silent
GNASENSG00000087460ENST00000371100p.R562Cc.1684C>TSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.E1821Kc.5461G>ASubstitution - Missense
DDX27ENSG00000124228ENST00000371764p.P648Pc.1944C>TSubstitution - coding silent
TNRC6CENSG00000078687ENST00000301624p.T1301Tc.3903G>ASubstitution - coding silent
LENG8ENSG00000167615ENST00000326764p.Q642Qc.1926G>ASubstitution - coding silent
NKAIN3ENSG00000185942ENST00000523211p.L38Lc.114T>ASubstitution - coding silent
OTTHUMT00000057903.1p.L48Lc.144G>ASubstitution - coding silent
PGBD2ENSG00000185220ENST00000329291p.R546Hc.1637G>ASubstitution - Missense
SIRPAENSG00000198053ENST00000400068p.W312*c.935G>ASubstitution - Nonsense
HERC1ENSG00000103657ENST00000443617p.A1814Ac.5442C>TSubstitution - coding silent
OSMRENSG00000145623ENST00000274276p.S583Sc.1749C>TSubstitution - coding silent
NM_004855.3p.P460Lc.1379C>TSubstitution - Missense
FAM101AENSG00000178882ENST00000389727p.A79Vc.236C>TSubstitution - Missense
RSRC2ENSG00000111011ENST00000331738p.A296Tc.886G>ASubstitution - Missense
RSRC2ENSG00000111011ENST00000354654p.R127Wc.379C>TSubstitution - Missense
USP5ENSG00000111667ENST00000229268p.T294Tc.882T>CSubstitution - coding silent
USP5ENSG00000111667ENST00000389231p.T294Tc.882T>CSubstitution - coding silent
DNAH10ENSG00000197653ENST00000409039p.G809Gc.2427C>TSubstitution - coding silent
LRRN2ENSG00000170382ENST00000367175p.W558*c.1674G>ASubstitution - Nonsense
GRM5ENSG00000168959ENST00000418177p.G968Gc.2904C>ASubstitution - coding silent
PTX4ENSG00000251692ENST00000293922p.R118Qc.353G>ASubstitution - Missense
PTX4ENSG00000251692ENST00000447419p.R123Qc.368G>ASubstitution - Missense
MAN2A2ENSG00000196547ENST00000360468p.R389fs*101c.1162delCDeletion - Frameshift
TRIM44ENSG00000166326ENST00000299413p.A47Ac.141G>ASubstitution - coding silent
ENST00000309024p.R291Qc.872G>ASubstitution - Missense
ARHGAP22ENSG00000128805ENST00000417912p.E96fs*66c.285delCDeletion - Frameshift
STK40ENSG00000196182ENST00000373129p.T425Mc.1274C>TSubstitution - Missense
TYSND1ENSG00000156521ENST00000287078p.A427Tc.1279G>ASubstitution - Missense
CD6ENSG00000013725ENST00000313421p.R343Wc.1027C>TSubstitution - Missense
METTL17ENSG00000165792ENST00000339374p.A301Pc.901G>CSubstitution - Missense
CMA1ENSG00000092009ENST00000250378p.G24Rc.70G>ASubstitution - Missense
TROAPENSG00000135451ENST00000257909p.P685fs*8c.2049delCDeletion - Frameshift
MAP10ENSG00000212916ENST00000418460p.R124Gc.370C>GSubstitution - Missense
KRT6CENSG00000170465ENST00000252250p.Y360Yc.1080C>TSubstitution - coding silent
TECTAENSG00000109927ENST00000392793p.Q265Rc.794A>GSubstitution - Missense
SU_OBSCN.1p.A6440Ac.19320G>ASubstitution - coding silent
LRIG3ENSG00000139263ENST00000320743p.S1033Lc.3098C>TSubstitution - Missense
NM_015057.1p.V223Ic.667G>ASubstitution - Missense
FARP1ENSG00000152767ENST00000319562p.R275Cc.823C>TSubstitution - Missense
C15orf60ENSG00000183324ENST00000331090p.L130Lc.388C>TSubstitution - coding silent
KMT2CENSG00000055609ENST00000262189p.N1563Dc.4687A>GSubstitution - Missense
MAP3K9ENSG00000006432ENST00000555993p.A367Tc.1099G>ASubstitution - Missense
PPP6R2ENSG00000100239ENST00000359139p.A299Tc.895G>ASubstitution - Missense
DENND2CENSG00000175984ENST00000393276p.R423Wc.1267C>TSubstitution - Missense
SEMA7AENSG00000138623ENST00000261918p.M505Vc.1513A>GSubstitution - Missense
SU_NEK10p.P611Lc.1832C>TSubstitution - Missense
FBXL2ENSG00000153558ENST00000484457p.R386Wc.1156C>TSubstitution - Missense
ARHGAP32ENSG00000134909ENST00000392657p.R1411Hc.4232G>ASubstitution - Missense
YEATS2ENSG00000163872ENST00000305135p.I1025_S1026>Tc.3074_3076delTCTComplex - deletion inframe
GABBR2ENSG00000136928ENST00000259455p.R249Wc.745C>TSubstitution - Missense
HDAC7ENSG00000061273ENST00000080059p.C18Yc.53G>ASubstitution - Missense
OR6C3ENSG00000205329ENST00000379667p.K233Nc.699G>TSubstitution - Missense
ZNF669ENSG00000188295ENST00000343381p.H211Qc.633C>ASubstitution - Missense
HTTENSG00000197386ENST00000355072p.R414*c.1240C>TSubstitution - Nonsense
ABCB5ENSG00000004846ENST00000404938p.T552Mc.1655C>TSubstitution - Missense
PFASENSG00000178921ENST00000314666p.V668Fc.2002G>TSubstitution - Missense
ZNF512BENSG00000196700ENST00000369888p.R335Hc.1004G>ASubstitution - Missense
TCF7L2ENSG00000148737ENST00000543371p.A378Tc.1132G>ASubstitution - Missense
GFAPENSG00000131095ENST00000253408p.T302Mc.905C>TSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.L3179Pc.9536T>CSubstitution - Missense
PLXNB3ENSG00000198753ENST00000538966p.V647Ic.1939G>ASubstitution - Missense
CD93ENSG00000125810ENST00000246006p.R607Hc.1820G>ASubstitution - Missense
TXNDC15ENSG00000113621ENST00000358387p.R41Hc.122G>ASubstitution - Missense
VPS13AENSG00000197969ENST00000357409p.K372fs*2c.1108delADeletion - Frameshift
PCDHA2ENSG00000204969ENST00000526136p.K766fs*29c.2289delCDeletion - Frameshift
APOBEC3AENSG00000128383ENST00000402255p.R128Cc.382C>TSubstitution - Missense
PHF23ENSG00000040633ENST00000320316p.R322Wc.964C>TSubstitution - Missense
DTNAENSG00000134769ENST00000399097p.R142Wc.424C>TSubstitution - Missense
HRASENSG00000174775ENST00000397596p.A59Ac.177C>TSubstitution - coding silent
GOPCENSG00000047932ENST00000535237p.G5Dc.14G>ASubstitution - Missense
ARHGAP6ENSG00000047648ENST00000534860p.T370Sc.1109C>GSubstitution - Missense
AP1B1ENSG00000100280ENST00000415447p.L317Pc.950T>CSubstitution - Missense
ODF2LENSG00000122417ENST00000294678p.A57Ac.171G>ASubstitution - coding silent
GUK1ENSG00000143774ENST00000366721p.G30Sc.88G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.Q492Pc.1475A>CSubstitution - Missense
ZNF567ENSG00000189042ENST00000536254p.C398Yc.1193G>ASubstitution - Missense
OR8H3ENSG00000181761ENST00000313472p.V209Lc.625G>TSubstitution - Missense
CPSF7ENSG00000149532ENST00000340437p.R386*c.1156C>TSubstitution - Nonsense
SATB1ENSG00000182568ENST00000338745p.R442Qc.1325G>ASubstitution - Missense
PI4K2BENSG00000038210ENST00000264864p.R177Qc.530G>ASubstitution - Missense
SPTBN1ENSG00000115306ENST00000333896p.V1847Mc.5539G>ASubstitution - Missense
CTBP2ENSG00000175029ENST00000309035p.G187Rc.559G>ASubstitution - Missense
IGF2RENSG00000197081ENST00000356956p.G1844Rc.5530G>ASubstitution - Missense
SH3PXD2AENSG00000107957ENST00000355946p.S501fs*43c.1500delCDeletion - Frameshift
BRD9ENSG00000028310ENST00000323510p.?c.1095+6C>TUnknown
PLECENSG00000178209ENST00000354589p.R1511Qc.4532G>ASubstitution - Missense
ZNRF1ENSG00000186187ENST00000320619p.G109Gc.327T>CSubstitution - coding silent
UNC13CENSG00000137766ENST00000545554p.Q1721Qc.5163G>ASubstitution - coding silent
GRIK3ENSG00000163873ENST00000373093p.M448Vc.1342A>GSubstitution - Missense
VWA5B1ENSG00000158816ENST00000375083p.A841Vc.2522C>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.R175Hc.524G>ASubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.R1026Qc.3077G>ASubstitution - Missense
DGKBENSG00000136267ENST00000403951p.C274Rc.820T>CSubstitution - Missense
CHTF8ENSG00000168802ENST00000448552p.H65Hc.195C>TSubstitution - coding silent
TBXA2RENSG00000006638ENST00000411851p.S355Sc.1065C>TSubstitution - coding silent
MPOENSG00000005381ENST00000340482p.L385Pc.1154T>CSubstitution - Missense
UBTFENSG00000108312ENST00000302904p.P592Pc.1776G>ASubstitution - coding silent
ENST00000357281p.P241Pc.723G>ASubstitution - coding silent
KLHL18ENSG00000114648ENST00000232766p.R132Qc.395G>ASubstitution - Missense
PTPN23ENSG00000076201ENST00000265562p.H811Hc.2433T>CSubstitution - coding silent
ASCC3ENSG00000112249ENST00000369162p.E1994Kc.5980G>ASubstitution - Missense
ATP9BENSG00000166377ENST00000307671p.R856Hc.2567G>ASubstitution - Missense
UNC13AENSG00000130477ENST00000428389p.R722Wc.2164C>TSubstitution - Missense
ISYNA1ENSG00000105655ENST00000338128p.A125Tc.373G>ASubstitution - Missense
THOC6ENSG00000131652ENST00000326266p.L300Lc.900G>ASubstitution - coding silent
SEZ6L2ENSG00000174938ENST00000308713p.P650Lc.1949C>TSubstitution - Missense
WDR52ENSG00000206530ENST00000393845p.E996fs*>8c.2985_2986insAAInsertion - Frameshift
COL6A3ENSG00000163359ENST00000295550p.A2565Ac.7695G>ASubstitution - coding silent
SLC26A5ENSG00000170615ENST00000339444p.I57fs*1c.169delADeletion - Frameshift
DBF4ENSG00000006634ENST00000265728p.K408fs*16c.1217delADeletion - Frameshift
ENSG00000163075ENST00000295220p.P8Pc.24G>ASubstitution - coding silent
USP37ENSG00000135913ENST00000258399p.T837Tc.2511C>TSubstitution - coding silent
HIVEP2ENSG00000010818ENST00000012134p.V1647Mc.4939G>ASubstitution - Missense
AF083811.1p.R387Hc.1160G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T1892Tc.5676C>TSubstitution - coding silent
ENST00000405167p.S1768Lc.5303C>TSubstitution - Missense
DCBLD2ENSG00000057019ENST00000326840p.A270Tc.808G>ASubstitution - Missense
SNED1ENSG00000162804ENST00000310397p.T564Tc.1692C>TSubstitution - coding silent
FANCAENSG00000187741ENST00000389301p.A1233Vc.3698C>TSubstitution - Missense
SHISA6ENSG00000188803ENST00000441885p.R133Cc.397C>TSubstitution - Missense
MIB1ENSG00000101752ENST00000261537p.A511Tc.1531G>ASubstitution - Missense
ARHGEF10ENSG00000104728ENST00000349830p.L157Lc.469C>TSubstitution - coding silent
PLECENSG00000178209ENST00000345136p.R1511Qc.4532G>ASubstitution - Missense
ZCCHC2ENSG00000141664ENST00000269499p.A842Ac.2526A>GSubstitution - coding silent
TMEM241ENSG00000134490ENST00000383233p.W41Rc.121T>CSubstitution - Missense
SBNO2ENSG00000064932ENST00000361757p.A550Tc.1648G>ASubstitution - Missense
NM_020528.1p.R124Gc.370A>GSubstitution - Missense
ADAMTS9ENSG00000163638ENST00000498707p.S457Sc.1371T>CSubstitution - coding silent
NLKENSG00000087095ENST00000407008p.?c.588+7G>AUnknown
PPM1DENSG00000170836ENST00000305921p.N443Dc.1327A>GSubstitution - Missense
CLUHENSG00000132361ENST00000435359p.A407Vc.1220C>TSubstitution - Missense
SLC5A10ENSG00000154025ENST00000395647p.C279Cc.837C>TSubstitution - coding silent
PRAM1ENSG00000133246ENST00000423345p.A312Ac.936C>TSubstitution - coding silent
WWOXENSG00000186153ENST00000355860p.V127Vc.381T>CSubstitution - coding silent
C20orf26ENSG00000089101ENST00000245957p.T803Tc.2409G>ASubstitution - coding silent
TMEM30BENSG00000182107ENST00000355702p.R268Hc.803G>ASubstitution - Missense
VPS13CENSG00000129003ENST00000395896p.P851Pc.2553T>CSubstitution - coding silent
TSHRENSG00000165409ENST00000541158p.?c.882-7C>TUnknown
GAS6ENSG00000183087ENST00000357389p.?c.466+4C>TUnknown
SACSENSG00000151835ENST00000382298p.L526Lc.1576T>CSubstitution - coding silent
PPFIBP1ENSG00000110841ENST00000228425p.A819Ac.2457G>ASubstitution - coding silent
ITPR2ENSG00000123104ENST00000381340p.N1498Nc.4494T>CSubstitution - coding silent
DCST1ENSG00000163357ENST00000295542p.L346Lc.1036C>TSubstitution - coding silent
SPRED2ENSG00000198369ENST00000356388p.C345Cc.1035C>TSubstitution - coding silent
PELI1ENSG00000197329ENST00000358912p.V265Mc.793G>ASubstitution - Missense
PIK3R4ENSG00000196455ENST00000356763p.I1245Vc.3733A>GSubstitution - Missense
SP4ENSG00000105866ENST00000222584p.I590Mc.1770A>GSubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.P525Pc.1575A>GSubstitution - coding silent
PNLDC1ENSG00000146453ENST00000275275p.?c.962+8C>TUnknown
MAGEB17ENSG00000182798ENST00000400004p.R319Tc.956G>CSubstitution - Missense
NKTRENSG00000114857ENST00000232978p.T955Ic.2864C>TSubstitution - Missense
KCTD19ENSG00000168676ENST00000304372p.L160Lc.480C>TSubstitution - coding silent
DROSHAENSG00000113360ENST00000511367p.A1328Ac.3984G>ASubstitution - coding silent
USP11ENSG00000102226ENST00000218348p.R231Wc.691C>TSubstitution - Missense
CXXC11ENSG00000188011ENST00000343216p.A164Dc.491C>ASubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.L344Lc.1032G>TSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.P2927Lc.8780C>TSubstitution - Missense
GREB1LENSG00000141449ENST00000424526p.D170Gc.509A>GSubstitution - Missense
DIP2AENSG00000160305ENST00000427143p.A694Ac.2082G>ASubstitution - coding silent
ENST00000356127p.R31676Hc.95027G>ASubstitution - Missense
LYPD2ENSG00000197353ENST00000359228p.A7Ac.21G>ASubstitution - coding silent
TUSC3ENSG00000104723ENST00000503731p.R97Qc.290G>ASubstitution - Missense
CLUHENSG00000132361ENST00000435359p.?c.1153-8C>TUnknown
ZNF564ENSG00000249709ENST00000339282p.P252Pc.756T>ASubstitution - coding silent
CACHD1ENSG00000158966ENST00000290039p.S1199Pc.3595T>CSubstitution - Missense
AK4ENSG00000162433ENST00000545314p.E49Kc.145G>ASubstitution - Missense
CAMTA1ENSG00000171735ENST00000303635p.A1493Vc.4478C>TSubstitution - Missense
ADAMTS18ENSG00000140873ENST00000282849p.K1050fs*49c.3147_3148insCInsertion - Frameshift
DENND4AENSG00000174485ENST00000431932p.A643Tc.1927G>ASubstitution - Missense
FYBENSG00000082074ENST00000505428p.K373Ec.1117A>GSubstitution - Missense
CAPSLENSG00000152611ENST00000397367p.T58Tc.174C>TSubstitution - coding silent
TLE3ENSG00000140332ENST00000558939p.A258Tc.772G>ASubstitution - Missense
CT62ENSG00000225362ENST00000449977p.A39Ac.117A>GSubstitution - coding silent
ABCD3ENSG00000117528ENST00000370214p.?c.1065+7T>GUnknown
PCSK6ENSG00000140479ENST00000331826p.S165Fc.494C>TSubstitution - Missense
BEND5ENSG00000162373ENST00000371833p.R208Qc.623G>ASubstitution - Missense
HEATR5AENSG00000129493ENST00000389961p.L1079Lc.3237A>GSubstitution - coding silent
PRPF38BENSG00000134186ENST00000370025p.R500Hc.1499G>ASubstitution - Missense
PIAS3ENSG00000131788ENST00000393045p.A584Tc.1750G>ASubstitution - Missense
NAV2ENSG00000166833ENST00000360655p.S1802Sc.5406C>TSubstitution - coding silent
CCKBRENSG00000110148ENST00000334619p.G287Gc.861C>TSubstitution - coding silent
TBX19ENSG00000143178ENST00000367821p.A423Tc.1267G>ASubstitution - Missense
POGZENSG00000143442ENST00000271715p.R848Qc.2543G>ASubstitution - Missense
PTPRUENSG00000060656ENST00000460170p.A187Tc.559G>ASubstitution - Missense
CNR2ENSG00000188822ENST00000374472p.T272Tc.816G>ASubstitution - coding silent
RBM20ENSG00000203867ENST00000369519p.H436Hc.1308C>TSubstitution - coding silent
LRRC32ENSG00000137507ENST00000260061p.L585Lc.1755G>ASubstitution - coding silent
GDF3ENSG00000184344ENST00000329913p.R351Rc.1051C>ASubstitution - coding silent
LRTM2ENSG00000166159ENST00000299194p.A68Tc.202G>ASubstitution - Missense
ANXA7ENSG00000138279ENST00000372919p.G70Rc.208G>ASubstitution - Missense
CDC42BPAENSG00000143776ENST00000334218p.S1768Ic.5303G>TSubstitution - Missense
GPALPP1ENSG00000133114ENST00000379151p.G13Rc.37G>CSubstitution - Missense
HOXC12ENSG00000123407ENST00000243103p.G231Gc.693C>TSubstitution - coding silent
NCKAP5LENSG00000167566ENST00000335999p.P902fs*>24c.2705delCDeletion - Frameshift
SORL1ENSG00000137642ENST00000260197p.M1581fs*34c.4735delADeletion - Frameshift
CACNG3ENSG00000006116ENST00000005284p.A161Tc.481G>ASubstitution - Missense
CCNA1ENSG00000133101ENST00000255465p.A429Ac.1287G>ASubstitution - coding silent
SPOCD1ENSG00000134668ENST00000360482p.A336Tc.1006G>ASubstitution - Missense
HOXD10ENSG00000128710ENST00000249501p.Q243*c.727C>TSubstitution - Nonsense
RXFP4ENSG00000173080ENST00000368318p.K115Nc.345G>TSubstitution - Missense
MOCS1ENSG00000124615ENST00000373186p.R222Qc.665G>ASubstitution - Missense
COL27A1ENSG00000196739ENST00000356083p.R155Hc.464G>ASubstitution - Missense
DFNB31ENSG00000095397ENST00000362057p.T525Mc.1574C>TSubstitution - Missense
KIF21AENSG00000139116ENST00000395670p.R912*c.2734C>TSubstitution - Nonsense
TMC5ENSG00000103534ENST00000219821p.G601Rc.1801G>ASubstitution - Missense
DEGS1ENSG00000143753ENST00000391877p.R133Qc.398G>ASubstitution - Missense
RHOBENSG00000143878ENST00000272233p.V139Mc.415G>ASubstitution - Missense
TRPC4ENSG00000133107ENST00000379705p.C906Yc.2717G>ASubstitution - Missense
B3GAT1ENSG00000109956ENST00000392580p.?c.621+6G>AUnknown
MOB2ENSG00000182208ENST00000329957p.G241Rc.721G>ASubstitution - Missense
HPSE2ENSG00000172987ENST00000370552p.?c.1613+6T>CUnknown
FGF6ENSG00000111241ENST00000228837p.A70Ac.210C>TSubstitution - coding silent
ENST00000450802_v68p.R169Hc.506G>ASubstitution - Missense
PDS5BENSG00000083642ENST00000315596p.R724fs*16c.2170_2171insCInsertion - Frameshift
ADSSL1ENSG00000185100ENST00000332972p.Q470Qc.1410G>ASubstitution - coding silent
NDUFV1ENSG00000167792ENST00000322776p.G266Gc.798C>TSubstitution - coding silent
KIAA1199ENSG00000103888ENST00000356249p.?c.1412-3T>CUnknown
BCCIPENSG00000107949ENST00000299130p.N69Nc.207T>CSubstitution - coding silent
ADARB2ENSG00000185736ENST00000381312p.F212Lc.636C>GSubstitution - Missense
R3HCC1LENSG00000166024ENST00000298999p.A125Sc.373G>TSubstitution - Missense
SVILENSG00000197321ENST00000355867p.V882Ic.2644G>ASubstitution - Missense
UBE4BENSG00000130939ENST00000343090p.L1280Lc.3838C>TSubstitution - coding silent
NM_005830.2p.Q183Hc.549G>CSubstitution - Missense
CENPFENSG00000117724ENST00000366955p.?c.9141+8A>GUnknown
BLOC1S1ENSG00000135441ENST00000548925p.L140Lc.418C>TSubstitution - coding silent
DDR2ENSG00000162733ENST00000367922p.R752Cc.2254C>TSubstitution - Missense
GDPD3ENSG00000102886ENST00000406256p.V296Ac.887T>CSubstitution - Missense
NETO2ENSG00000171208ENST00000562435p.G388Ec.1163G>ASubstitution - Missense
FAM120BENSG00000112584ENST00000476287p.R693Hc.2078G>ASubstitution - Missense
GLI3ENSG00000106571ENST00000395925p.R792*c.2374C>TSubstitution - Nonsense
PLEKHH2ENSG00000152527ENST00000282406p.K687Nc.2061G>CSubstitution - Missense
SLC25A35ENSG00000125434ENST00000577745p.G54Sc.160G>ASubstitution - Missense
RASSF9ENSG00000198774ENST00000361228p.A302Ac.906G>ASubstitution - coding silent
ZNF668ENSG00000167394ENST00000539836p.Q538fs*14c.1612delCDeletion - Frameshift
KMT2DENSG00000167548ENST00000301067p.R2789Qc.8366G>ASubstitution - Missense
IVNS1ABPENSG00000116679ENST00000367498p.R407Qc.1220G>ASubstitution - Missense
MYH7BENSG00000078814ENST00000262873p.G1888Gc.5664C>TSubstitution - coding silent
DLG4ENSG00000132535ENST00000302955p.D88Nc.262G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.R164Kc.491G>ASubstitution - Missense
PAK3ENSG00000077264ENST00000360648p.F84Sc.251T>CSubstitution - Missense
PASD1ENSG00000166049ENST00000370357p.Y748Hc.2242T>CSubstitution - Missense
NEK10ENSG00000163491ENST00000341435p.P611Lc.1832C>TSubstitution - Missense
DIS3LENSG00000166938ENST00000319194p.D721fs*3c.2163delTDeletion - Frameshift
LPCAT3ENSG00000111684ENST00000261407p.G162Rc.484G>ASubstitution - Missense
ATG7ENSG00000197548ENST00000354449p.R481Qc.1442G>ASubstitution - Missense
PLAURENSG00000011422ENST00000339082p.A40Tc.118G>ASubstitution - Missense
PEG10ENSG00000242265ENST00000482108p.E3Kc.7G>ASubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.T2308Mc.6923C>TSubstitution - Missense
ENST00000545858p.R155Qc.464G>ASubstitution - Missense
ENST00000534231p.R226Cc.676C>TSubstitution - Missense
ENST00000328585_v65p.L116fs*19c.336delGDeletion - Frameshift
TBC1D14ENSG00000132405ENST00000446947p.K22Kc.66A>GSubstitution - coding silent
DOCK10ENSG00000135905ENST00000409592p.?c.6288-7G>AUnknown
PITRM1ENSG00000107959ENST00000224949p.G903fs*27c.2706delADeletion - Frameshift
IGSF9ENSG00000085552ENST00000368094p.A611Tc.1831G>ASubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.R5212Rc.15636C>TSubstitution - coding silent
GPR6ENSG00000146360ENST00000414000p.A113Vc.338C>TSubstitution - Missense
FGFR3ENSG00000068078ENST00000340107p.R359*c.1075C>TSubstitution - Nonsense
OTOAENSG00000155719ENST00000388958p.S224Sc.672G>ASubstitution - coding silent
ENST00000334436p.P67Pc.201G>ASubstitution - coding silent
OR2J2ENSG00000204700ENST00000377167p.R173Cc.517C>TSubstitution - Missense
DYRK1BENSG00000105204ENST00000593685p.T167Tc.501G>ASubstitution - coding silent
PPM1FENSG00000100034ENST00000263212p.T47Tc.141G>ASubstitution - coding silent
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
THADAENSG00000115970ENST00000405975p.N322Nc.966C>TSubstitution - coding silent
ASCC3ENSG00000112249ENST00000369162p.G158Gc.474C>TSubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.T3998Tc.11994T>CSubstitution - coding silent
NM_020766.1p.E110Ec.330G>ASubstitution - coding silent
NCKAP5ENSG00000176771ENST00000409261p.R572Hc.1715G>ASubstitution - Missense
ZNF100ENSG00000197020ENST00000358296p.P344Pc.1032C>TSubstitution - coding silent
SLC23A3ENSG00000213901ENST00000455516p.P560Hc.1679C>ASubstitution - Missense
DGKBENSG00000136267ENST00000258767p.C274Rc.820T>CSubstitution - Missense
STXBP5ENSG00000164506ENST00000392291p.G55Sc.163G>ASubstitution - Missense
LAMB4ENSG00000091128ENST00000414450p.?c.1180+10C>TUnknown
PHEXENSG00000102174ENST00000418858p.?c.754+8C>TUnknown
KLHL13ENSG00000003096ENST00000539496p.L230Lc.688C>TSubstitution - coding silent
EPT1ENSG00000138018ENST00000260585p.R112Hc.335G>ASubstitution - Missense
SONENSG00000159140ENST00000290239p.R1928Qc.5783G>ASubstitution - Missense
SLAMF6ENSG00000162739ENST00000368057p.Q134*c.400C>TSubstitution - Nonsense
UBR4ENSG00000127481ENST00000375267p.E3313Dc.9939G>CSubstitution - Missense
MYBPC3ENSG00000134571ENST00000545968p.T498Tc.1494C>GSubstitution - coding silent
WSCD2ENSG00000075035ENST00000261400p.A441Ac.1323G>ASubstitution - coding silent
PPP2R2CENSG00000074211ENST00000335585p.R248Wc.742C>TSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.T256Tc.768C>TSubstitution - coding silent
KIF5CENSG00000168280ENST00000435030p.P164Pc.492G>ASubstitution - coding silent
NEBENSG00000183091ENST00000397345p.A6231Vc.18692C>TSubstitution - Missense
ZNF526ENSG00000167625ENST00000301215p.P432Pc.1296A>CSubstitution - coding silent
TPK1ENSG00000196511ENST00000549981p.Y92Cc.275A>GSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.T572Tc.1716G>ASubstitution - coding silent
SLC25A2ENSG00000120329ENST00000239451p.G62fs*44c.184_185delGGDeletion - Frameshift
ENST00000316490_v65p.P2448Pc.7344C>TSubstitution - coding silent
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
MMS22LENSG00000146263ENST00000275053p.C31Fc.92G>TSubstitution - Missense
PCDHB2ENSG00000112852ENST00000194155p.P566Pc.1698G>ASubstitution - coding silent
PCDHB7ENSG00000113212ENST00000231137p.R536Hc.1607G>ASubstitution - Missense
GPR151ENSG00000173250ENST00000311104p.P281Lc.842C>TSubstitution - Missense
PCDHGA6ENSG00000253731ENST00000517434p.A87Tc.259G>ASubstitution - Missense
ANKS6ENSG00000165138ENST00000353234p.G658Sc.1972G>ASubstitution - Missense
OR2K2ENSG00000171133ENST00000302681p.V117Mc.349G>ASubstitution - Missense
GRIA2ENSG00000120251ENST00000264426p.G105Ec.314G>ASubstitution - Missense
POLR3GENSG00000113356ENST00000399107p.D180Gc.539A>GSubstitution - Missense
ZNF236ENSG00000130856ENST00000253159p.A260Ac.780C>TSubstitution - coding silent
JOSD1ENSG00000100221ENST00000216039p.L16Lc.46T>CSubstitution - coding silent
MARVELD2ENSG00000152939ENST00000325631p.G431fs*5c.1289_1290insCInsertion - Frameshift
LMF2ENSG00000100258ENST00000216080p.A590Tc.1768G>ASubstitution - Missense
MDGA1ENSG00000112139ENST00000434837p.I122Tc.365T>CSubstitution - Missense
SLC7A3ENSG00000165349ENST00000374299p.V388Mc.1162G>ASubstitution - Missense
PLXNA1ENSG00000114554ENST00000393409p.T713Mc.2138C>TSubstitution - Missense
CLIC3ENSG00000169583ENST00000494426p.E224Ec.672G>ASubstitution - coding silent
GSAPENSG00000186088ENST00000257626p.H780Hc.2340C>TSubstitution - coding silent
CPSF4LENSG00000187959ENST00000397671p.A108Ac.324C>TSubstitution - coding silent
ARMC5ENSG00000140691ENST00000457010p.P495Lc.1484C>TSubstitution - Missense
NM_003319p.A5640Tc.16918G>ASubstitution - Missense
ANKMY1ENSG00000144504ENST00000361678p.L235Lc.703C>TSubstitution - coding silent
WDR35ENSG00000118965ENST00000345530p.T577Tc.1731G>ASubstitution - coding silent
ENST00000404449p.D171Gc.512A>GSubstitution - Missense
LRRCC1ENSG00000133739ENST00000360375p.N377Dc.1129A>GSubstitution - Missense
ZNF337ENSG00000130684ENST00000376436p.?c.250+3G>CUnknown
MST1ENSG00000173531ENST00000449682p.A337Tc.1009G>ASubstitution - Missense
MAPRE2ENSG00000166974ENST00000300249p.P322Lc.965C>TSubstitution - Missense
UBN1ENSG00000118900ENST00000396658p.P995Pc.2985C>ASubstitution - coding silent
EXTL3ENSG00000012232ENST00000220562p.A653Ac.1959G>ASubstitution - coding silent
DOK5ENSG00000101134ENST00000262593p.A183Tc.547G>ASubstitution - Missense
ITIH4ENSG00000055955ENST00000266041p.R710Hc.2129G>ASubstitution - Missense
TOP3AENSG00000177302ENST00000321105p.G674Rc.2020G>ASubstitution - Missense
TRPM4ENSG00000130529ENST00000252826p.A480Ac.1440G>ASubstitution - coding silent
COL3A1ENSG00000168542ENST00000304636p.P581Pc.1743C>TSubstitution - coding silent
RAD21L1ENSG00000244588ENST00000409241p.R515Rc.1543C>ASubstitution - coding silent
PELP1ENSG00000141456ENST00000301396p.E1095Dc.3285G>TSubstitution - Missense
OLFM2ENSG00000105088ENST00000264833p.H446Hc.1338C>TSubstitution - coding silent
NM_002837.2p.R656Cc.1966C>TSubstitution - Missense
ARCN1ENSG00000095139ENST00000264028p.A190Ac.570A>GSubstitution - coding silent
SYNMENSG00000182253ENST00000328642p.R472Qc.1415G>ASubstitution - Missense
LIN7CENSG00000148943ENST00000278193p.A2Tc.4G>ASubstitution - Missense
HIPK1ENSG00000163349ENST00000369558p.E477fs*19c.1428delGDeletion - Frameshift


COSMIC

645 mutations reported
19 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
KRASENSG00000133703ENST00000311936p.G12Dc.35G>ASubstitution - Missense20806365
CDKN2AENSG00000147889ENST00000304494p.?c.1_457del457Unknown8641406
RUNX1ENSG00000159216ENST00000300305p.A370Tc.1108G>ASubstitution - Missense22675565
FBXW7ENSG00000109670ENST00000281708p.A685Vc.2054C>TSubstitution - Missense22675565
ENST00000534231p.A446Vc.1337C>TSubstitution - Missense22675565
STK11ENSG00000118046ENST00000326873p.H154Hc.462C>TSubstitution - coding silent22675565
NM_006218.1p.W446*c.1338G>ASubstitution - Nonsense22675565
PDGFRBENSG00000113721ENST00000261799p.V761Ic.2281G>ASubstitution - Missense22675565
FGFR3ENSG00000068078ENST00000440486p.V487Vc.1461C>TSubstitution - coding silent22675565
GATA1ENSG00000102145ENST00000376670p.G126Gc.378A>GSubstitution - coding silent22675565
ERBB2ENSG00000141736ENST00000269571p.?c.760-2A>GUnknown22675565
MLH1ENSG00000076242ENST00000231790p.?c.790+1G>AUnknown22675565
FGFR3ENSG00000068078ENST00000440486p.T689Tc.2067G>ASubstitution - coding silent22675565
EGFRENSG00000146648ENST00000275493p.C535Cc.1605C>TSubstitution - coding silent22675565
EGFRENSG00000146648ENST00000275493p.A1118Tc.3352G>ASubstitution - Missense22675565
PIK3CAENSG00000121879ENST00000263967p.W446*c.1338G>ASubstitution - Nonsense22675565
FLT3ENSG00000122025ENST00000241453p.A627Tc.1879G>ASubstitution - Missense22675565
FBXW7ENSG00000109670ENST00000281708p.A685Vc.2054C>TSubstitution - Missense22675565
EGFRENSG00000146648ENST00000344576p.C535Cc.1605C>TSubstitution - coding silent22675565
TET3ENSG00000187605ENST00000409262p.K1080Tc.3239A>CSubstitution - Missense22675565
ATOH1ENSG00000172238ENST00000306011p.G111Gc.333C>TSubstitution - coding silent22675565
FBXW7ENSG00000109670ENST00000281708p.R465Cc.1393C>TSubstitution - Missense22675565
ENST00000233310p.K357Tc.1070A>CSubstitution - Missense22675565
FBXW7ENSG00000109670ENST00000281708p.R465Cc.1393C>TSubstitution - Missense22675565
ENST00000534231p.R226Cc.676C>TSubstitution - Missense22675565
NOTCH1ENSG00000148400ENST00000277541p.H2246Yc.6736C>TSubstitution - Missense22675565
PTPN11ENSG00000179295ENST00000351677p.M82Tc.245T>CSubstitution - Missense22675565
HRASENSG00000174775ENST00000397594p.A59Ac.177C>TSubstitution - coding silent22675565
KRASENSG00000133703ENST00000311936p.G12Dc.35G>ASubstitution - Missense22675565
FBXW7ENSG00000109670ENST00000263981p.R385Cc.1153C>TSubstitution - Missense22675565
TYK2ENSG00000105397ENST00000525621p.A35Vc.104C>TSubstitution - Missense22675565
APCENSG00000134982ENST00000457016p.C947Yc.2840G>ASubstitution - Missense22675565
TYK2ENSG00000105397ENST00000525621p.R1027Hc.3080G>ASubstitution - Missense22675565
TET2ENSG00000168769ENST00000380013p.?c.3500+10G>AUnknown22675565
PMS2ENSG00000122512ENST00000265849p.V717Mc.2149G>ASubstitution - Missense22675565
FBXW7ENSG00000109670ENST00000263981p.A605Vc.1814C>TSubstitution - Missense22675565
NOTCH1ENSG00000148400ENST00000277541p.H2246Yc.6736C>TSubstitution - Missense22675565
NOTCH1ENSG00000148400ENST00000277541p.?c.3326-3C>TUnknown22675565
HRASENSG00000174775ENST00000397596p.A59Ac.177C>TSubstitution - coding silent22675565
NOTCH1ENSG00000148400ENST00000277541p.?c.3326-3C>TUnknown22675565
ALKENSG00000171094ENST00000389048p.R1209*c.3625C>TSubstitution - Nonsense22675565
NOTCH1ENSG00000148400ENST00000277541p.R1594_E1595ins12c.4781_4782ins36Insertion - In frame17515920
FBXW7ENSG00000109670ENST00000281708p.R465Cc.1393C>TSubstitution - Missense17515920
LLGL1ENSG00000131899ENST00000316843p.R190Hc.569G>ASubstitution - Missense23856246
GRIN3AENSG00000198785ENST00000361820p.R96Cc.286C>TSubstitution - Missense23856246
SLX4ENSG00000188827ENST00000294008p.G700Rc.2098G>ASubstitution - Missense23856246
TJP3ENSG00000105289ENST00000262968p.R273Wc.817C>TSubstitution - Missense23856246
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense23856246
KCTD21ENSG00000188997ENST00000340067p.G10Rc.28G>ASubstitution - Missense23856246
ABCC2ENSG00000023839ENST00000370449p.R590Cc.1768C>TSubstitution - Missense23856246
MOV10L1ENSG00000073146ENST00000540615p.V584Mc.1750G>ASubstitution - Missense23856246
DLG2ENSG00000150672ENST00000398309p.R783Wc.2347C>TSubstitution - Missense23856246
CCNJENSG00000107443ENST00000265992p.R61Cc.181C>TSubstitution - Missense23856246
PNPLA6ENSG00000032444ENST00000221249p.R614Hc.1841G>ASubstitution - Missense23856246
NOTCH2ENSG00000134250ENST00000256646p.R2053Hc.6158G>ASubstitution - Missense23856246
ADCK3ENSG00000163050ENST00000366779p.R416Hc.1247G>ASubstitution - Missense23856246
ARL6IP5ENSG00000144746ENST00000273258p.F134Sc.401T>CSubstitution - Missense23856246
SLC25A35ENSG00000125434ENST00000380067p.G54Sc.160G>ASubstitution - Missense23856246
MOV10L1ENSG00000073146ENST00000262794p.V604Mc.1810G>ASubstitution - Missense23856246
BZRAP1ENSG00000005379ENST00000355701p.S1417fs*40c.4247_4248insAInsertion - Frameshift23856246
MRPS14ENSG00000120333ENST00000476371p.H113Yc.337C>TSubstitution - Missense23856246
CD6ENSG00000013725ENST00000313421p.G166Sc.496G>ASubstitution - Missense23856246
CIPCENSG00000198894ENST00000361786p.P212Hc.635C>ASubstitution - Missense23856246
SCAPENSG00000114650ENST00000265565p.G406Sc.1216G>ASubstitution - Missense23856246
B4GALT3ENSG00000158850ENST00000367998p.H194Yc.580C>TSubstitution - Missense23856246
OR1B1ENSG00000171484ENST00000304833p.L38Pc.113T>CSubstitution - Missense23856246
COL4A2ENSG00000134871ENST00000360467p.G1046Sc.3136G>ASubstitution - Missense23856246
C1QL3ENSG00000165985ENST00000298943p.R135Wc.403C>TSubstitution - Missense23856246
PCDHAC1ENSG00000248383ENST00000253807p.R56Hc.167G>ASubstitution - Missense23856246
SYNE1ENSG00000131018ENST00000265368p.S8400Ic.25199G>TSubstitution - Missense23856246
POPDC3ENSG00000132429ENST00000254765p.A130Vc.389C>TSubstitution - Missense23856246
MMP15ENSG00000102996ENST00000219271p.Y62*c.186C>ASubstitution - Nonsense23856246
NLRP12ENSG00000142405ENST00000345770p.Q600*c.1798C>TSubstitution - Nonsense23856246
BTG3ENSG00000154640ENST00000348354p.D141Gc.422A>GSubstitution - Missense23856246
FOPNLENSG00000133393ENST00000255759p.S144_R145insSc.428_429insTAGInsertion - In frame23856246
CTPS2ENSG00000047230ENST00000443824p.P533Lc.1598C>TSubstitution - Missense23856246
ENST00000248069p.G31Sc.91G>ASubstitution - Missense23856246
NM_016575.1p.E337Dc.1011G>CSubstitution - Missense23856246
MAN1A1ENSG00000111885ENST00000368468p.G485Rc.1453G>ASubstitution - Missense23856246
LAMB1ENSG00000091136ENST00000222399p.R152*c.454C>TSubstitution - Nonsense23856246
SLAMF6ENSG00000162739ENST00000368059p.Q134*c.400C>TSubstitution - Nonsense23856246
TMC5ENSG00000103534ENST00000396229p.G847Rc.2539G>ASubstitution - Missense23856246
BBOX1ENSG00000129151ENST00000263182p.T175Ic.524C>TSubstitution - Missense23856246
SLC17A2ENSG00000112337ENST00000360488p.R17Cc.49C>TSubstitution - Missense23856246
PKDREJENSG00000130943ENST00000253255p.R2234Cc.6700C>TSubstitution - Missense23856246
RGS6ENSG00000182732ENST00000553525p.R112Hc.335G>ASubstitution - Missense23856246
WNK1ENSG00000060237ENST00000537687p.R348Hc.1043G>ASubstitution - Missense23856246
PGBD2ENSG00000185220ENST00000329291p.Y483Hc.1447T>CSubstitution - Missense23856246
CLDN3ENSG00000165215ENST00000395145p.V84Mc.250G>ASubstitution - Missense23856246
SLC25A2ENSG00000120329ENST00000239451p.G62fs*44c.182_183delGGDeletion - Frameshift23856246
TRIM32ENSG00000119401ENST00000450136p.R271Qc.812G>ASubstitution - Missense23856246
LRP1ENSG00000123384ENST00000243077p.G4439Rc.13315G>ASubstitution - Missense23856246
RBM25ENSG00000119707ENST00000261973p.R9Hc.26G>ASubstitution - Missense23856246
SEMA5AENSG00000112902ENST00000382496p.K378Nc.1134G>TSubstitution - Missense23856246
GIPC1ENSG00000123159ENST00000393033p.G144Rc.430G>ASubstitution - Missense23856246
CAMK2GENSG00000148660ENST00000322680p.H115Nc.343C>ASubstitution - Missense23856246
KIF4AENSG00000090889ENST00000374403p.R722Wc.2164C>TSubstitution - Missense23856246
DLG2ENSG00000150672ENST00000376104p.R888Wc.2662C>TSubstitution - Missense23856246
SLC35E1ENSG00000127526ENST00000431408p.G19Sc.55G>ASubstitution - Missense23856246
GOLIM4ENSG00000173905ENST00000470487p.E606delEc.1814_1816delAGGDeletion - In frame23856246
XRCC5ENSG00000079246ENST00000392133p.R643Wc.1927C>TSubstitution - Missense23856246
EIF2AK4ENSG00000128829ENST00000263791p.D737_E738insDDc.2213_2214insCGACGAInsertion - In frame23856246
CNDP1ENSG00000150656ENST00000358821p.L20_E21insLc.60_61insCTGInsertion - In frame23856246
PSG8ENSG00000124467ENST00000306511p.Y120fs*6c.356delCDeletion - Frameshift23856246
NM_024426.2p.A31Vc.92C>TSubstitution - Missense19494353
NM_024426.2p.Y48*c.144C>GSubstitution - Nonsense19494353
FBXW7ENSG00000109670ENST00000281708p.R465Cc.1393C>TSubstitution - Missense11565033
BNIPLENSG00000163141ENST00000368931p.R349Wc.1045C>TSubstitution - Missense23856246
CSMD3ENSG00000164796ENST00000297405p.R3391Cc.10171C>TSubstitution - Missense23856246
ESR2ENSG00000140009ENST00000554572p.G318Sc.952G>ASubstitution - Missense23856246
EGFRENSG00000146648ENST00000275493p.A1118Tc.3352G>ASubstitution - Missense23856246
AGTPBP1ENSG00000135049ENST00000376083p.S746Lc.2237C>TSubstitution - Missense23856246
SYT1ENSG00000067715ENST00000393240p.Y230Cc.689A>GSubstitution - Missense23856246
NFATC2ENSG00000101096ENST00000396009p.R754Wc.2260C>TSubstitution - Missense23856246
DEPDC5ENSG00000100150ENST00000535622p.V1260Mc.3778G>ASubstitution - Missense23856246
NCOR2ENSG00000196498ENST00000405201p.E1328Kc.3982G>ASubstitution - Missense23856246
CLDN16ENSG00000113946ENST00000264734p.A56fs*16c.166delGDeletion - Frameshift23856246
SYNE1ENSG00000131018ENST00000265368p.S8400Ic.25199G>TSubstitution - Missense23856246
KLHDC2ENSG00000165516ENST00000298307p.R366Wc.1096C>TSubstitution - Missense23856246
NM_004667.3p.A901Tc.2701G>ASubstitution - Missense23856246
MKNK1ENSG00000079277ENST00000371946p.P386Lc.1157C>TSubstitution - Missense23856246
PEAK1ENSG00000173517ENST00000312493p.A1341Vc.4022C>TSubstitution - Missense23856246
MLH1ENSG00000076242ENST00000231790p.?c.790+1G>AUnknown23856246
IQSEC1ENSG00000144711ENST00000273221p.R566Hc.1697G>ASubstitution - Missense23856246
MED14ENSG00000180182ENST00000324817p.R1167Hc.3500G>ASubstitution - Missense23856246
DEGS1ENSG00000143753ENST00000391877p.R133Qc.398G>ASubstitution - Missense23856246
SPOCD1ENSG00000134668ENST00000360482p.A336Tc.1006G>ASubstitution - Missense23856246
PI4K2BENSG00000038210ENST00000264864p.R177Qc.530G>ASubstitution - Missense23856246
PFKFB2ENSG00000123836ENST00000367079p.F348fs*66c.1044delTDeletion - Frameshift23856246
MOCS1ENSG00000124615ENST00000373186p.R222Qc.665G>ASubstitution - Missense23856246
DFNB31ENSG00000095397ENST00000362057p.T525Mc.1574C>TSubstitution - Missense23856246
TMC5ENSG00000103534ENST00000219821p.G601Rc.1801G>ASubstitution - Missense23856246
RXFP4ENSG00000173080ENST00000368318p.K115Nc.345G>TSubstitution - Missense23856246
CTBP2ENSG00000175029ENST00000309035p.G187Rc.559G>ASubstitution - Missense23856246
SBF2ENSG00000133812ENST00000256190p.R860Qc.2579G>ASubstitution - Missense23856246
KCND1ENSG00000102057ENST00000218176p.R261Qc.782G>ASubstitution - Missense23856246
WHSC1ENSG00000109685ENST00000382891p.S946fs*21c.2835_2836insCInsertion - Frameshift23856246
CCR2ENSG00000121807ENST00000445132p.Q39*c.115C>TSubstitution - Nonsense23856246
IGDCC4ENSG00000103742ENST00000352385p.R513Hc.1538G>ASubstitution - Missense23856246
ZNF205ENSG00000122386ENST00000219091p.R440Hc.1319G>ASubstitution - Missense23856246
CCDC157ENSG00000187860ENST00000338306p.R71Hc.212G>ASubstitution - Missense23856246
PPLENSG00000118898ENST00000345988p.R1655Wc.4963C>TSubstitution - Missense23856246
MAGI1ENSG00000151276ENST00000330909p.E823fs*31c.2455_2456delGADeletion - Frameshift23856246
PRR5ENSG00000186654ENST00000432186p.R144Qc.431G>ASubstitution - Missense23856246
CPSF7ENSG00000149532ENST00000394888p.R343*c.1027C>TSubstitution - Nonsense23856246
ALPK2ENSG00000198796ENST00000361673p.F1389delFc.4161_4163delCTTDeletion - In frame23856246
PHF2ENSG00000197724ENST00000359246p.R94Qc.281G>ASubstitution - Missense23856246
PLD3ENSG00000105223ENST00000359274p.R371Cc.1111C>TSubstitution - Missense23856246
ALAS2ENSG00000158578ENST00000396198p.R498Wc.1492C>TSubstitution - Missense23856246
PFKFB2ENSG00000123836ENST00000367080p.F348fs*66c.1044delTDeletion - Frameshift23856246
GAAENSG00000171298ENST00000390015p.T234Mc.701C>TSubstitution - Missense23856246
OTOFENSG00000115155ENST00000402415p.R280Hc.839G>ASubstitution - Missense23856246
MACC1ENSG00000183742ENST00000332878p.A181Tc.541G>ASubstitution - Missense23856246
TCF7L2ENSG00000148737ENST00000355717p.A402Tc.1204G>ASubstitution - Missense23856246
SLC4A5ENSG00000188687ENST00000377634p.R1016Wc.3046C>TSubstitution - Missense23856246
EPHA8ENSG00000070886ENST00000374644p.Y125Hc.373T>CSubstitution - Missense23856246
LRRC8EENSG00000171017ENST00000306708p.R790Wc.2368C>TSubstitution - Missense23856246
ING1ENSG00000153487ENST00000338450p.R24Wc.70C>TSubstitution - Missense23856246
PDILTENSG00000169340ENST00000302451p.R327Wc.979C>TSubstitution - Missense23856246
TMEM171ENSG00000157111ENST00000287773p.D98Nc.292G>ASubstitution - Missense23856246
NR3C1ENSG00000113580ENST00000231509p.L754Fc.2262A>TSubstitution - Missense23856246
PIWIL4ENSG00000134627ENST00000299001p.R6*c.16C>TSubstitution - Nonsense23856246
CELENSG00000170835ENST00000372080p.G455Rc.1363G>ASubstitution - Missense23856246
ADCY5ENSG00000173175ENST00000462833p.V1203Mc.3607G>ASubstitution - Missense23856246
HOXB1ENSG00000120094ENST00000239174p.R255*c.763C>TSubstitution - Nonsense23856246
ENST00000417442p.R184Wc.550C>TSubstitution - Missense23856246
MPP3ENSG00000161647ENST00000398389p.Q205*c.613C>TSubstitution - Nonsense23856246
PRR5ENSG00000186654ENST00000336985p.R153Qc.458G>ASubstitution - Missense23856246
POU4F2ENSG00000151615ENST00000281321p.R331Cc.991C>TSubstitution - Missense23856246
ZNF536ENSG00000198597ENST00000355537p.R138Cc.412C>TSubstitution - Missense23856246
TACC2ENSG00000138162ENST00000369005p.A2794Vc.8381C>TSubstitution - Missense23856246
YTHDF2ENSG00000198492ENST00000373812p.A445Tc.1333G>ASubstitution - Missense23856246
HECW2ENSG00000138411ENST00000260983p.R899*c.2695C>TSubstitution - Nonsense23856246
TP53ENSG00000141510ENST00000269305p.R175Hc.524G>ASubstitution - Missense23856246
NLRP12ENSG00000142405ENST00000324134p.Q600*c.1798C>TSubstitution - Nonsense23856246
CD6ENSG00000013725ENST00000313421p.G166Sc.496G>ASubstitution - Missense23856246
COPAENSG00000122218ENST00000368069p.R1067Hc.3200G>ASubstitution - Missense23856246
TNFAIP6ENSG00000123610ENST00000243347p.G36Sc.106G>ASubstitution - Missense23856246
ENST00000542622p.V281Mc.841G>ASubstitution - Missense23856246
FER1L6ENSG00000214814ENST00000399018p.K118Nc.354G>TSubstitution - Missense23856246
FZR1ENSG00000105325ENST00000441788p.S484Fc.1451C>TSubstitution - Missense23856246
CLK4ENSG00000113240ENST00000316308p.I177Lc.529A>CSubstitution - Missense23856246
BPIENSG00000101425ENST00000262865p.R198Qc.593G>ASubstitution - Missense23856246
ABCB5ENSG00000004846ENST00000443026p.T107Mc.320C>TSubstitution - Missense23856246
C1QTNF6ENSG00000133466ENST00000397110p.W200*c.600G>ASubstitution - Nonsense23856246
ACVR1ENSG00000115170ENST00000263640p.C37fs*1c.101_102delTGDeletion - Frameshift23856246
CACNA1DENSG00000157388ENST00000288139p.V1030Mc.3088G>ASubstitution - Missense23856246
MCM3ENSG00000112118ENST00000229854p.R234Qc.701G>ASubstitution - Missense23856246
USP34ENSG00000115464ENST00000398571p.S779Cc.2336C>GSubstitution - Missense23856246
FN3KRPENSG00000141560ENST00000269373p.R276Hc.827G>ASubstitution - Missense23856246
EXTL1ENSG00000158008ENST00000374280p.P432Hc.1295C>ASubstitution - Missense23856246
REC8ENSG00000100918ENST00000311457p.P56Lc.167C>TSubstitution - Missense23856246
GSK3BENSG00000082701ENST00000316626p.R96*c.286C>TSubstitution - Nonsense23856246
TMEM178AENSG00000152154ENST00000281961p.W256*c.768G>ASubstitution - Nonsense23856246
DDR2ENSG00000162733ENST00000367922p.R752Cc.2254C>TSubstitution - Missense23856246
WNT7BENSG00000188064ENST00000339464p.R78Hc.233G>ASubstitution - Missense23856246
ENST00000417249p.L240Vc.718C>GSubstitution - Missense23856246
ITPKBENSG00000143772ENST00000429204p.G434Rc.1300G>ASubstitution - Missense23856246
NPC1L1ENSG00000015520ENST00000289547p.R693Hc.2078G>ASubstitution - Missense23856246
GPR6ENSG00000146360ENST00000275169p.A260Vc.779C>TSubstitution - Missense23856246
TFEBENSG00000112561ENST00000230323p.R13Wc.37C>TSubstitution - Missense23856246
CEP97ENSG00000182504ENST00000341893p.R570Qc.1709G>ASubstitution - Missense23856246
DNAH5ENSG00000039139ENST00000265104p.I659Mc.1977A>GSubstitution - Missense23856246
TP53ENSG00000141510ENST00000455263p.R175Hc.524G>ASubstitution - Missense23856246
ARFIP2ENSG00000132254ENST00000396777p.Y104Cc.311A>GSubstitution - Missense23856246
HSPG2ENSG00000142798ENST00000374695p.R413Wc.1237C>TSubstitution - Missense23856246
SLC5A4ENSG00000100191ENST00000266086p.A417Vc.1250C>TSubstitution - Missense23856246
TP53ENSG00000141510ENST00000269305p.R175Hc.524G>ASubstitution - Missense23856246
ENST00000369728p.R448Wc.1342C>TSubstitution - Missense23856246
TACC2ENSG00000138162ENST00000453444p.A2721Vc.8162C>TSubstitution - Missense23856246
OR52D1ENSG00000181609ENST00000322641p.T204fs*33c.608_609insGGCTInsertion - Frameshift23856246
SIRT7ENSG00000187531ENST00000328666p.G121fs*20c.359delGDeletion - Frameshift23856246
FBXW7ENSG00000109670ENST00000296555p.R347Cc.1039C>TSubstitution - Missense23856246
KDM1BENSG00000165097ENST00000297792p.R288*c.862C>TSubstitution - Nonsense23856246
FBXL2ENSG00000153558ENST00000538181p.R302Wc.904C>TSubstitution - Missense23856246
SULT2B1ENSG00000088002ENST00000201586p.E17delEc.51_53delAGADeletion - In frame23856246
FAM65AENSG00000039523ENST00000042381p.G221Dc.662G>ASubstitution - Missense23856246
KCNA1ENSG00000111262ENST00000382545p.V224Mc.670G>ASubstitution - Missense23856246
SPTBN1ENSG00000115306ENST00000356805p.V1860Mc.5578G>ASubstitution - Missense23856246
DAB2IPENSG00000136848ENST00000259371p.P758Lc.2273C>TSubstitution - Missense23856246
SDCBPENSG00000137575ENST00000260130p.K280Tc.839A>CSubstitution - Missense23856246
SPP1ENSG00000118785ENST00000395080p.S239Ic.716G>TSubstitution - Missense23856246
BRAT1ENSG00000106009ENST00000340611p.V214fs*189c.636_637insAInsertion - Frameshift23856246
AHDC1ENSG00000126705ENST00000247087p.G292Wc.874G>TSubstitution - Missense23856246
SIX4ENSG00000100625ENST00000216513p.D706Gc.2117A>GSubstitution - Missense23856246
NM_018979p.R348Hc.1043G>ASubstitution - Missense23856246
STON1-GTF2A1LENSG00000068781ENST00000394754p.P575Ac.1723C>GSubstitution - Missense23856246
CCR4ENSG00000183813ENST00000330953p.M129Ic.387G>ASubstitution - Missense23856246
PLD3ENSG00000105223ENST00000409587p.R424Cc.1270C>TSubstitution - Missense23856246
ABCA10ENSG00000154263ENST00000269081p.S444fs*17c.1328_1331delTGTCDeletion - Frameshift23856246
SRRTENSG00000087087ENST00000347433p.R518Hc.1553G>ASubstitution - Missense23856246
NM_000926.2p.G188fs*23c.560delGDeletion - Frameshift23856246
PCNTENSG00000160299ENST00000359568p.T2584Mc.7751C>TSubstitution - Missense23856246
GATA1ENSG00000102145ENST00000376670p.R140Wc.418C>TSubstitution - Missense23856246
PEAK1ENSG00000173517ENST00000312493p.A1341Vc.4022C>TSubstitution - Missense23856246
HELZ2ENSG00000130589ENST00000467148p.S873Nc.2618G>ASubstitution - Missense23856246
PLD3ENSG00000105223ENST00000409587p.R267Wc.799C>TSubstitution - Missense23856246
VENTXENSG00000151650ENST00000325980p.R95Cc.283C>TSubstitution - Missense23856246
CAP1ENSG00000131236ENST00000372792p.E325Vc.974A>TSubstitution - Missense23856246
DAKENSG00000149476ENST00000394900p.A77Tc.229G>ASubstitution - Missense23856246
NLRP7ENSG00000167634ENST00000328092p.D256Vc.767A>TSubstitution - Missense23856246
ING1ENSG00000153487ENST00000333219p.R68Wc.202C>TSubstitution - Missense23856246
UBE2E2ENSG00000182247ENST00000425792p.R190Wc.568C>TSubstitution - Missense23856246
PLCB3ENSG00000149782ENST00000279230p.P112Lc.335C>TSubstitution - Missense23856246
APOBENSG00000084674ENST00000233242p.R45*c.133C>TSubstitution - Nonsense23856246
NEK10ENSG00000163491ENST00000357467p.P8Lc.23C>TSubstitution - Missense23856246
TOP3AENSG00000177302ENST00000321105p.E398Kc.1192G>ASubstitution - Missense23856246
ADH6ENSG00000172955ENST00000394899p.C283Yc.848G>ASubstitution - Missense23856246
PSG8ENSG00000124467ENST00000404209p.Y120fs*6c.356delCDeletion - Frameshift23856246
EGR2ENSG00000122877ENST00000242480p.R257Wc.769C>TSubstitution - Missense23856246
NDUFA9ENSG00000139180ENST00000266544p.R85Qc.254G>ASubstitution - Missense23856246
PNPLA6ENSG00000032444ENST00000221249p.R514Hc.1541G>ASubstitution - Missense23856246
ZNF567ENSG00000189042ENST00000360729p.C367Yc.1100G>ASubstitution - Missense23856246
PAK4ENSG00000130669ENST00000358301p.R252Qc.755G>ASubstitution - Missense23856246
CTHENSG00000116761ENST00000370938p.R265*c.793C>TSubstitution - Nonsense23856246
ENST00000414315p.R43Hc.128G>ASubstitution - Missense23856246
HHIPL2ENSG00000143512ENST00000343410p.R718*c.2152C>TSubstitution - Nonsense23856246
SHANK1ENSG00000161681ENST00000391813p.R557Hc.1670G>ASubstitution - Missense23856246
STX6ENSG00000135823ENST00000258301p.R189Cc.565C>TSubstitution - Missense23856246
AP4B1ENSG00000134262ENST00000369569p.L483Pc.1448T>CSubstitution - Missense23856246
LAMA2ENSG00000196569ENST00000421865p.C1436Sc.4306T>ASubstitution - Missense23856246
FGRENSG00000000938ENST00000374005p.C483Yc.1448G>ASubstitution - Missense23856246
PLXNB3ENSG00000198753ENST00000361971p.V624Ic.1870G>ASubstitution - Missense23856246
RHOBENSG00000143878ENST00000272233p.V139Mc.415G>ASubstitution - Missense23856246
HOXD10ENSG00000128710ENST00000249501p.Q243*c.727C>TSubstitution - Nonsense23856246
COL27A1ENSG00000196739ENST00000356083p.R155Hc.464G>ASubstitution - Missense23856246
KIF21AENSG00000139116ENST00000395670p.R912*c.2734C>TSubstitution - Nonsense23856246
IGF2RENSG00000197081ENST00000356956p.G1844Rc.5530G>ASubstitution - Missense23856246
SPTBN1ENSG00000115306ENST00000333896p.V1847Mc.5539G>ASubstitution - Missense23856246
SNCAIPENSG00000064692ENST00000261368p.R846Wc.2536C>TSubstitution - Missense23856246
PRKCBENSG00000166501ENST00000321728p.R465Hc.1394G>ASubstitution - Missense23856246
EIF4G1ENSG00000114867ENST00000319274p.A805Tc.2413G>ASubstitution - Missense23856246
TSHZ1ENSG00000179981ENST00000322038p.L190Fc.568C>TSubstitution - Missense23856246
OGFRENSG00000060491ENST00000290291p.G588*c.1762G>TSubstitution - Nonsense23856246
TC2NENSG00000165929ENST00000360594p.K151Mc.452A>TSubstitution - Missense23856246
CCR2ENSG00000121807ENST00000292301p.Q39*c.115C>TSubstitution - Nonsense23856246
ORMDL2ENSG00000123353ENST00000243045p.S39Nc.116G>ASubstitution - Missense23856246
BZRAP1ENSG00000005379ENST00000343736p.S1417fs*40c.4247_4248insAInsertion - Frameshift23856246
BCL10ENSG00000142867ENST00000370580p.M153Vc.457A>GSubstitution - Missense23856246
NKX6-2ENSG00000148826ENST00000368592p.R204Hc.611G>ASubstitution - Missense23856246
COBLENSG00000106078ENST00000265136p.R300Cc.898C>TSubstitution - Missense23856246
LLGL1ENSG00000131899ENST00000316843p.R652Qc.1955G>ASubstitution - Missense23856246
ZNF787ENSG00000142409ENST00000270459p.R113Wc.337C>TSubstitution - Missense23856246
IFNAR2ENSG00000159110ENST00000382241p.G474Rc.1420G>ASubstitution - Missense23856246
DLG2ENSG00000150672ENST00000280241p.R822Wc.2464C>TSubstitution - Missense23856246
GSAPENSG00000186088ENST00000257626p.A849Vc.2546C>TSubstitution - Missense23856246
SAV1ENSG00000151748ENST00000324679p.S245Lc.734C>TSubstitution - Missense23856246
ENST00000545858p.R82Hc.245G>ASubstitution - Missense23856246
FLT3ENSG00000122025ENST00000241453p.A627Tc.1879G>ASubstitution - Missense23856246
ADAM7ENSG00000069206ENST00000175238p.R282Qc.845G>ASubstitution - Missense23856246
SCARB2ENSG00000138760ENST00000264896p.A444Vc.1331C>TSubstitution - Missense23856246
PPP1R15BENSG00000158615ENST00000367188p.S8Lc.23C>TSubstitution - Missense23856246
LRFN3ENSG00000126243ENST00000246529p.C255Yc.764G>ASubstitution - Missense23856246
VILLENSG00000136059ENST00000283713p.T326_N327insTc.979_980insCCAInsertion - In frame23856246
CAMK2GENSG00000148660ENST00000351293p.H115Nc.343C>ASubstitution - Missense23856246
SLC4A5ENSG00000188687ENST00000394019p.R1000Wc.2998C>TSubstitution - Missense23856246
MCUENSG00000156026ENST00000373053p.R113*c.337C>TSubstitution - Nonsense23856246
EVLENSG00000196405ENST00000392920p.R330Wc.988C>TSubstitution - Missense23856246
ZNF547ENSG00000152433ENST00000282282p.W251*c.753G>ASubstitution - Nonsense23856246
NM_020416.2p.R248Wc.742C>TSubstitution - Missense23856246
SNCAIPENSG00000064692ENST00000379533p.R893Wc.2677C>TSubstitution - Missense23856246
CSMD3ENSG00000164796ENST00000343508p.R3351Cc.10051C>TSubstitution - Missense23856246
ZC3H13ENSG00000123200ENST00000282007p.R493Hc.1478G>ASubstitution - Missense23856246
SLC38A8ENSG00000166558ENST00000299709p.A52Tc.154G>ASubstitution - Missense23856246
CORO2BENSG00000103647ENST00000566799p.R236Wc.706C>TSubstitution - Missense23856246
PGBD2ENSG00000185220ENST00000355360p.Y232Hc.694T>CSubstitution - Missense23856246
GPNMBENSG00000136235ENST00000381990p.N197Kc.591C>GSubstitution - Missense23856246
BNIPLENSG00000163141ENST00000295294p.R267Wc.799C>TSubstitution - Missense23856246
SFTPBENSG00000168878ENST00000393822p.M109Vc.325A>GSubstitution - Missense23856246
NM_152696p.E477fs*19c.1429delGDeletion - Frameshift23856246
MED14ENSG00000180182ENST00000324817p.A1346Tc.4036G>ASubstitution - Missense23856246
MUC4ENSG00000145113ENST00000463781p.R4551Wc.13651C>TSubstitution - Missense23856246
HAVCR1ENSG00000113249ENST00000339252p.T160_V161insTc.474_475insACAInsertion - In frame23856246
AP3B1ENSG00000132842ENST00000255194p.A88Tc.262G>ASubstitution - Missense23856246
CDT1ENSG00000167513ENST00000301019p.R228Cc.682C>TSubstitution - Missense23856246
EFHC1ENSG00000096093ENST00000371068p.D447Nc.1339G>ASubstitution - Missense23856246
CRYBB2ENSG00000244752ENST00000398215p.R189Sc.565C>ASubstitution - Missense23856246
CCDC151ENSG00000198003ENST00000356392p.V229Mc.685G>ASubstitution - Missense23856246
GIT2ENSG00000139436ENST00000547815p.V395Mc.1183G>ASubstitution - Missense23856246
RGS6ENSG00000182732ENST00000555571p.R112Hc.335G>ASubstitution - Missense23856246
TP53ENSG00000141510ENST00000413465p.R248Qc.743G>ASubstitution - Missense23856246
CCDC140ENSG00000163081ENST00000295226p.R126Hc.377G>ASubstitution - Missense23856246
PRKCBENSG00000166501ENST00000303531p.R465Hc.1394G>ASubstitution - Missense23856246
PPLENSG00000118898ENST00000345988p.Y305Nc.913T>ASubstitution - Missense23856246
SLC44A5ENSG00000137968ENST00000370859p.R510*c.1528C>TSubstitution - Nonsense23856246
HPDENSG00000158104ENST00000289004p.R353Hc.1058G>ASubstitution - Missense23856246
PDZD4ENSG00000067840ENST00000164640p.G279Rc.835G>ASubstitution - Missense23856246
PRSS50ENSG00000206549ENST00000315170p.L32_R33insLc.72_73insCTGInsertion - In frame23856246
LECT1ENSG00000136110ENST00000377962p.S89*c.266C>ASubstitution - Nonsense23856246
MEP1AENSG00000112818ENST00000230588p.R653Wc.1957C>TSubstitution - Missense23856246
ZDHHC1ENSG00000159714ENST00000348579p.R286Hc.857G>ASubstitution - Missense23856246
TDRD6ENSG00000180113ENST00000316081p.E705delEc.2114_2116delAAGDeletion - In frame23856246
GSK3BENSG00000082701ENST00000316626p.R96*c.286C>TSubstitution - Nonsense23856246
MIB1ENSG00000101752ENST00000261537p.R89Hc.266G>ASubstitution - Missense23856246
PLXNA1ENSG00000114554ENST00000393409p.R1269Hc.3806G>ASubstitution - Missense23856246
ZNF141ENSG00000131127ENST00000240499p.P226Sc.676C>TSubstitution - Missense23856246
TMEM181ENSG00000146433ENST00000367090p.P107Lc.320C>TSubstitution - Missense23856246
L1CAMENSG00000198910ENST00000370060p.L167Pc.500T>CSubstitution - Missense23856246
GCN1L1ENSG00000089154ENST00000300648p.Q448*c.1342C>TSubstitution - Nonsense23856246
IQSEC1ENSG00000144711ENST00000450726p.Q566Qc.1698G>ASubstitution - coding silent23856246
ADAMTS10ENSG00000142303ENST00000270328p.R93Cc.277C>TSubstitution - Missense23856246
ADAMTS10ENSG00000142303ENST00000270328p.R66Cc.196C>TSubstitution - Missense23856246
FER1L6ENSG00000214814ENST00000399018p.K118Mc.353A>TSubstitution - Missense23856246
SDC3ENSG00000162512ENST00000339394p.P174Lc.521C>TSubstitution - Missense23856246
AHDC1ENSG00000126705ENST00000247087p.G904Rc.2710G>ASubstitution - Missense23856246
ALAS2ENSG00000158578ENST00000330807p.R511Wc.1531C>TSubstitution - Missense23856246
PRSS16ENSG00000112812ENST00000230582p.E507_K511delESQIKc.1520_1534del15Deletion - In frame23856246
CFPENSG00000126759ENST00000396992p.V429Mc.1285G>ASubstitution - Missense23856246
ZNF296ENSG00000170684ENST00000303809p.S399Rc.1197C>ASubstitution - Missense23856246
TAF1ENSG00000147133ENST00000373790p.G4Sc.10G>ASubstitution - Missense23856246
MYO15AENSG00000091536ENST00000205890p.A1067Vc.3200C>TSubstitution - Missense23856246
PLXNA1ENSG00000114554ENST00000393409p.R1330Wc.3988C>TSubstitution - Missense23856246
IQGAP1ENSG00000140575ENST00000268182p.R847Wc.2539C>TSubstitution - Missense23856246
CNTRLENSG00000119397ENST00000373855p.E705fs*3c.2113_2114insGInsertion - Frameshift23856246
PRPF40BENSG00000110844ENST00000380281p.T577Mc.1730C>TSubstitution - Missense23856246
SLC35G2ENSG00000168917ENST00000446465p.R167*c.499C>TSubstitution - Nonsense23856246
PNPLA6ENSG00000032444ENST00000414982p.R662Hc.1985G>ASubstitution - Missense23856246
HIVEP1ENSG00000095951ENST00000379388p.P2489Lc.7466C>TSubstitution - Missense23856246
CDK5R2ENSG00000171450ENST00000302625p.R296Hc.887G>ASubstitution - Missense23856246
FAM65AENSG00000039523ENST00000379312p.G225Dc.674G>ASubstitution - Missense23856246
USP31ENSG00000103404ENST00000219689p.R792Qc.2375G>ASubstitution - Missense23856246
SOX30ENSG00000039600ENST00000265007p.R409Hc.1226G>ASubstitution - Missense23856246
AKAP6ENSG00000151320ENST00000280979p.T1874Ac.5620A>GSubstitution - Missense23856246
CCDC27ENSG00000162592ENST00000294600p.L639fs*8c.1916delTDeletion - Frameshift23856246
PLD3ENSG00000105223ENST00000359274p.R214Wc.640C>TSubstitution - Missense23856246
HIST1H4GENSG00000124578ENST00000244537p.G15Sc.43G>ASubstitution - Missense23856246
TCF7L2ENSG00000148737ENST00000369397p.A355Tc.1063G>ASubstitution - Missense23856246
USF1ENSG00000158773ENST00000368020p.R297Wc.889C>TSubstitution - Missense23856246
CHST5ENSG00000135702ENST00000336257p.R62Cc.184C>TSubstitution - Missense23856246
MLH1ENSG00000076242ENST00000231790p.R100*c.298C>TSubstitution - Nonsense23856246
NIPBLENSG00000164190ENST00000282516p.Q2738*c.8212C>TSubstitution - Nonsense23856246
SLC34A1ENSG00000131183ENST00000324417p.H223Yc.667C>TSubstitution - Missense23856246
SFRP1ENSG00000104332ENST00000220772p.R137Hc.410G>ASubstitution - Missense23856246
KIAA2018ENSG00000176542ENST00000316407p.R1330Hc.3989G>ASubstitution - Missense23856246
KLHL34ENSG00000185915ENST00000379499p.G578Sc.1732G>ASubstitution - Missense23856246
SLC25A32ENSG00000164933ENST00000297578p.G84Ec.251G>ASubstitution - Missense23856246
FAM198BENSG00000164125ENST00000393807p.R184Wc.550C>TSubstitution - Missense23856246
ANK2ENSG00000145362ENST00000357077p.E2996Dc.8988A>TSubstitution - Missense23856246
EPHA8ENSG00000070886ENST00000166244p.Y125Hc.373T>CSubstitution - Missense23856246
FKBP9ENSG00000122642ENST00000242209p.R107Hc.320G>ASubstitution - Missense23856246
EXOC2ENSG00000112685ENST00000230449p.E214Kc.640G>ASubstitution - Missense23856246
HIPK1ENSG00000163349ENST00000369558p.E477fs*19c.1429delGDeletion - Frameshift23856246
SYNE1ENSG00000131018ENST00000265368p.R7155*c.21463C>TSubstitution - Nonsense23856246
HGDENSG00000113924ENST00000283871p.Q238*c.712C>TSubstitution - Nonsense23856246
POLR1EENSG00000137054ENST00000377792p.M431Tc.1292T>CSubstitution - Missense23856246
TFPIENSG00000003436ENST00000392365p.A228Vc.683C>TSubstitution - Missense23856246
NM_052947p.F750delFc.2244_2246delCTTDeletion - In frame23856246
MAFGENSG00000197063ENST00000357736p.A10fs*3c.24_25insAAInsertion - Frameshift23856246
ANXA4ENSG00000196975ENST00000394295p.D212Nc.634G>ASubstitution - Missense23856246
PIGWENSG00000184886ENST00000328396p.L94*c.281T>ASubstitution - Nonsense23856246
PCNTENSG00000160299ENST00000359568p.S3060Nc.9179G>ASubstitution - Missense23856246
KCND1ENSG00000102057ENST00000218176p.R169Wc.505C>TSubstitution - Missense23856246
TAF1ENSG00000147133ENST00000276072p.G4Sc.10G>ASubstitution - Missense23856246
FBXW7ENSG00000109670ENST00000281708p.R465Cc.1393C>TSubstitution - Missense23856246
ZNF341ENSG00000131061ENST00000342427p.H666Yc.1996C>TSubstitution - Missense23856246
ANKRD9ENSG00000156381ENST00000286918p.E57Kc.169G>ASubstitution - Missense23856246
MLKLENSG00000168404ENST00000308807p.V401Ic.1201G>ASubstitution - Missense23856246
SEMA5BENSG00000082684ENST00000357599p.A804Vc.2411C>TSubstitution - Missense23856246
IQSEC1ENSG00000144711ENST00000429247p.R552Hc.1655G>ASubstitution - Missense23856246
CACNA1SENSG00000081248ENST00000362061p.R988Hc.2963G>ASubstitution - Missense23856246
CD163ENSG00000177575ENST00000359156p.R584Hc.1751G>ASubstitution - Missense23856246
PASD1ENSG00000166049ENST00000370357p.Y748Hc.2242T>CSubstitution - Missense23856246
ARL3ENSG00000138175ENST00000260746p.R149Hc.446G>ASubstitution - Missense23856246
PLXND1ENSG00000004399ENST00000324093p.V1835Mc.5503G>ASubstitution - Missense23856246
RAB3IL1ENSG00000167994ENST00000394836p.R309Cc.925C>TSubstitution - Missense23856246
ADAMTS12ENSG00000151388ENST00000504830p.R906Qc.2717G>ASubstitution - Missense23856246
CEP97ENSG00000182504ENST00000327230p.R570Qc.1709G>ASubstitution - Missense23856246
PVRENSG00000073008ENST00000425690p.R140*c.418C>TSubstitution - Nonsense23856246
B4GALT1ENSG00000086062ENST00000379731p.R224Hc.671G>ASubstitution - Missense23856246
FURINENSG00000140564ENST00000268171p.Q121Rc.362A>GSubstitution - Missense23856246
COG1ENSG00000166685ENST00000299886p.A2Tc.4G>ASubstitution - Missense23856246
PTRH1ENSG00000187024ENST00000419060p.C150Yc.449G>ASubstitution - Missense23856246
INTS5ENSG00000185085ENST00000330574p.R966Wc.2896C>TSubstitution - Missense23856246
MUC4ENSG00000145113ENST00000346145p.R315Wc.943C>TSubstitution - Missense23856246
SLC35E1ENSG00000127526ENST00000409648p.G175Sc.523G>ASubstitution - Missense23856246
NT5DC3ENSG00000111696ENST00000392876p.E412Dc.1236G>CSubstitution - Missense23856246
NUP205ENSG00000155561ENST00000285968p.P1784Sc.5350C>TSubstitution - Missense23856246
NM_020247p.R137Hc.410G>ASubstitution - Missense23856246
NEK10ENSG00000163491ENST00000429845p.P611Lc.1832C>TSubstitution - Missense23856246
SP6ENSG00000189120ENST00000342234p.P164Lc.491C>TSubstitution - Missense23856246
PRR14ENSG00000156858ENST00000300835p.Q456*c.1366C>TSubstitution - Nonsense23856246
PRG4ENSG00000116690ENST00000445192p.K205delKc.615_617delGAADeletion - In frame23856246
USP2ENSG00000036672ENST00000525735p.R188*c.562C>TSubstitution - Nonsense23856246
SLC5A5ENSG00000105641ENST00000222248p.P340Sc.1018C>TSubstitution - Missense23856246
KIF21AENSG00000139116ENST00000361961p.R899*c.2695C>TSubstitution - Nonsense23856246
SLC45A1ENSG00000162426ENST00000289877p.R267*c.799C>TSubstitution - Nonsense23856246
ADH6ENSG00000172955ENST00000237653p.C283Yc.848G>ASubstitution - Missense23856246
CEACAM4ENSG00000105352ENST00000221954p.A154Tc.460G>ASubstitution - Missense23856246
SLC25A18ENSG00000182902ENST00000399813p.A238Tc.712G>ASubstitution - Missense23856246
LHFPL4ENSG00000156959ENST00000287585p.L105Pc.314T>CSubstitution - Missense23856246
AGMATENSG00000116771ENST00000375826p.R207Wc.619C>TSubstitution - Missense23856246
ABHD14AENSG00000248487ENST00000273596p.S229Lc.686C>TSubstitution - Missense23856246
CACNA1DENSG00000157388ENST00000350061p.V1010Mc.3028G>ASubstitution - Missense23856246
ARHGAP32ENSG00000134909ENST00000310343p.R1760Hc.5279G>ASubstitution - Missense23856246
ATP1A3ENSG00000105409ENST00000302102p.E815Kc.2443G>ASubstitution - Missense23856246
DTNAENSG00000134769ENST00000399121p.R434Wc.1300C>TSubstitution - Missense23856246
OVGP1ENSG00000085465ENST00000369732p.R384Wc.1150C>TSubstitution - Missense23856246
PCDH12ENSG00000113555ENST00000231484p.R1124Cc.3370C>TSubstitution - Missense23856246
FGFRL1ENSG00000127418ENST00000398484p.V311Mc.931G>ASubstitution - Missense23856246
FCN3ENSG00000142748ENST00000270879p.S159Fc.476C>TSubstitution - Missense23856246
DLG2ENSG00000150672ENST00000418306p.R662Wc.1984C>TSubstitution - Missense23856246
SOGA3ENSG00000214338ENST00000368268p.R773Hc.2318G>ASubstitution - Missense23856246
SYNE1ENSG00000131018ENST00000423061p.R7084*c.21250C>TSubstitution - Nonsense23856246
COBLL1ENSG00000082438ENST00000342193p.P286Lc.857C>TSubstitution - Missense23856246
ALAS1ENSG00000023330ENST00000394965p.R465Qc.1394G>ASubstitution - Missense23856246
FAM84BENSG00000168672ENST00000304916p.D75Nc.223G>ASubstitution - Missense23856246
DHX33ENSG00000005100ENST00000225296p.R348Hc.1043G>ASubstitution - Missense23856246
CAMK2N1ENSG00000162545ENST00000375078p.R55Qc.164G>ASubstitution - Missense23856246
HPSEENSG00000173083ENST00000311412p.L401Sc.1202T>CSubstitution - Missense23856246
TRPM2ENSG00000142185ENST00000397928p.F1065Lc.3195C>ASubstitution - Missense23856246
CCDC157ENSG00000187860ENST00000405659p.R122Hc.365G>ASubstitution - Missense23856246
COBLENSG00000106078ENST00000395540p.R300Cc.898C>TSubstitution - Missense23856246
NLRP7ENSG00000167634ENST00000448121p.D256Vc.767A>TSubstitution - Missense23856246
PKD1L2ENSG00000166473ENST00000337114p.N236fs*26c.705_706delAADeletion - Frameshift23856246
MAGED1ENSG00000179222ENST00000375695p.R632Hc.1895G>ASubstitution - Missense23856246
DTNAENSG00000134769ENST00000444659p.R494Wc.1480C>TSubstitution - Missense23856246
SMARCAD1ENSG00000163104ENST00000354268p.L995Wc.2984T>GSubstitution - Missense23856246
DDX3XENSG00000215301ENST00000399959p.R428Qc.1283G>ASubstitution - Missense23856246
ABCA10ENSG00000154263ENST00000269081p.Q1506fs*12c.4510_4511delCTDeletion - Frameshift23856246
PAK3ENSG00000077264ENST00000446737p.F84Sc.251T>CSubstitution - Missense23856246
BAIAP3ENSG00000007516ENST00000324385p.D344Nc.1030G>ASubstitution - Missense23856246
MGAT5BENSG00000167889ENST00000428789p.R164Wc.490C>TSubstitution - Missense23856246
FAM160A2ENSG00000051009ENST00000265978p.R18Hc.53G>ASubstitution - Missense23856246
DLEC1ENSG00000008226ENST00000308059p.S1691fs*28c.5071_5072insAACAInsertion - Frameshift23856246
PRLHRENSG00000119973ENST00000369169p.R255Hc.764G>ASubstitution - Missense23856246
FBXW7ENSG00000109670ENST00000281708p.R465Cc.1393C>TSubstitution - Missense23856246
ATG7ENSG00000197548ENST00000354449p.R481Qc.1442G>ASubstitution - Missense23856246
NETO2ENSG00000171208ENST00000562435p.G388Ec.1163G>ASubstitution - Missense23856246
DIS3LENSG00000166938ENST00000319194p.D721fs*3c.2163delTDeletion - Frameshift23856246
ENST00000545858p.R155Qc.464G>ASubstitution - Missense23856246
SLC25A35ENSG00000125434ENST00000577745p.G54Sc.160G>ASubstitution - Missense23856246
FAM111BENSG00000189057ENST00000343597p.Y132fs*6c.394delTDeletion - Frameshift23856246
ENST00000534231p.R226Cc.676C>TSubstitution - Missense23856246
GDPD3ENSG00000102886ENST00000406256p.V296Ac.887T>CSubstitution - Missense23856246
PAK3ENSG00000077264ENST00000360648p.F84Sc.251T>CSubstitution - Missense23856246
PASD1ENSG00000166049ENST00000370357p.Y748Hc.2242T>CSubstitution - Missense23856246
DDR2ENSG00000162733ENST00000367922p.R752Cc.2254C>TSubstitution - Missense23856246
NEK10ENSG00000163491ENST00000341435p.P611Lc.1832C>TSubstitution - Missense23856246
KMT2CENSG00000055609ENST00000262189p.R164Kc.491G>ASubstitution - Missense23856246
GLI3ENSG00000106571ENST00000395925p.R792*c.2374C>TSubstitution - Nonsense23856246
ADRM1ENSG00000130706ENST00000253003p.D396_K397insTKDc.1189_1190insCGAAGGACAInsertion - In frame23856246
FAM120BENSG00000112584ENST00000476287p.R693Hc.2078G>ASubstitution - Missense23856246
PLEKHH2ENSG00000152527ENST00000282406p.K687Nc.2061G>CSubstitution - Missense23856246
LPCAT3ENSG00000111684ENST00000261407p.G162Rc.484G>ASubstitution - Missense23856246
PPFIA1ENSG00000131626ENST00000253925p.V1048Mc.3142G>ASubstitution - Missense23856246
POLR1EENSG00000137054ENST00000377798p.M369Tc.1106T>CSubstitution - Missense23856246
OR1B1ENSG00000171484ENST00000304833p.F30Lc.88T>CSubstitution - Missense23856246
SHKBP1ENSG00000160410ENST00000291842p.V410Mc.1228G>ASubstitution - Missense23856246
KRASENSG00000133703ENST00000311936p.G12Dc.35G>ASubstitution - Missense23856246
SLAMF8ENSG00000158714ENST00000289707p.R51*c.151C>TSubstitution - Nonsense23856246
FBXW7ENSG00000109670ENST00000263981p.R385Cc.1153C>TSubstitution - Missense23856246
ARID1AENSG00000117713ENST00000324856p.R1463Hc.4388G>ASubstitution - Missense23856246
SLC44A5ENSG00000137968ENST00000370855p.R510*c.1528C>TSubstitution - Nonsense23856246
SEMA5BENSG00000082684ENST00000195173p.A803Vc.2408C>TSubstitution - Missense23856246
COPAENSG00000122218ENST00000241704p.R1058Hc.3173G>ASubstitution - Missense23856246
TNPO1ENSG00000083312ENST00000506351p.R338Hc.1013G>ASubstitution - Missense23856246
OR6K2ENSG00000196171ENST00000359610p.A274Sc.820G>TSubstitution - Missense23856246
COL3A1ENSG00000168542ENST00000304636p.R1034Hc.3101G>ASubstitution - Missense23856246
KMT2CENSG00000055609ENST00000355193p.N1563Dc.4687A>GSubstitution - Missense23856246
NM_017936.3p.L240Vc.718C>GSubstitution - Missense23856246
ZNF581ENSG00000171425ENST00000270451p.G146Sc.436G>ASubstitution - Missense23856246
CASZ1ENSG00000130940ENST00000377022p.R487Hc.1460G>ASubstitution - Missense23856246
TC2NENSG00000165929ENST00000340892p.K151Mc.452A>TSubstitution - Missense23856246
CCDC50ENSG00000152492ENST00000392456p.Q82Pc.245A>CSubstitution - Missense23856246
BRINP2ENSG00000198797ENST00000361539p.R392Wc.1174C>TSubstitution - Missense23856246
CD93ENSG00000125810ENST00000246006p.R607Hc.1820G>ASubstitution - Missense23856246
GABBR2ENSG00000136928ENST00000259455p.R249Wc.745C>TSubstitution - Missense23856246
DENND2CENSG00000175984ENST00000393276p.R423Wc.1267C>TSubstitution - Missense23856246
PKD1L2ENSG00000166473ENST00000525539p.N236fs*26c.705_706delAADeletion - Frameshift23856246
OR6C3ENSG00000205329ENST00000379667p.K233Nc.699G>TSubstitution - Missense23856246
MAP3K9ENSG00000006432ENST00000555993p.A367Tc.1099G>ASubstitution - Missense23856246
HTTENSG00000197386ENST00000355072p.R414*c.1240C>TSubstitution - Nonsense23856246
TCF7L2ENSG00000148737ENST00000543371p.A378Tc.1132G>ASubstitution - Missense23856246
ARHGAP32ENSG00000134909ENST00000392657p.R1411Hc.4232G>ASubstitution - Missense23856246
ENST00000287624p.G13Cc.37G>TSubstitution - Missense23856246
ZNF669ENSG00000188295ENST00000343381p.H211Qc.633C>ASubstitution - Missense23856246
KMT2CENSG00000055609ENST00000262189p.N1563Dc.4687A>GSubstitution - Missense23856246
DTNAENSG00000134769ENST00000399097p.R142Wc.424C>TSubstitution - Missense23856246
PPP6R2ENSG00000100239ENST00000359139p.A299Tc.895G>ASubstitution - Missense23856246
IGF1RENSG00000140443ENST00000268035p.R107Hc.320G>ASubstitution - Missense23856246
NRP2ENSG00000118257ENST00000272849p.H881Yc.2641C>TSubstitution - Missense23856246
CPSF1ENSG00000071894ENST00000349769p.V84Mc.250G>ASubstitution - Missense23856246
VWFENSG00000110799ENST00000261405p.R575Cc.1723C>TSubstitution - Missense23856246
CDH22ENSG00000149654ENST00000372262p.E128Kc.382G>ASubstitution - Missense23856246
DEPDC5ENSG00000100150ENST00000400248p.V1329Mc.3985G>ASubstitution - Missense23856246
PDE6CENSG00000095464ENST00000371447p.V402Ac.1205T>CSubstitution - Missense23856246
ALAS1ENSG00000023330ENST00000394965p.P576Sc.1726C>TSubstitution - Missense23856246
GUCY2DENSG00000132518ENST00000254854p.R995Wc.2983C>TSubstitution - Missense23856246
ALMS1ENSG00000116127ENST00000264448p.R292Hc.875G>ASubstitution - Missense23856246
ODF1ENSG00000155087ENST00000285402p.V150Ac.449T>CSubstitution - Missense23856246
IFRD1ENSG00000006652ENST00000005558p.R132Hc.395G>ASubstitution - Missense23856246
TYK2ENSG00000105397ENST00000525621p.R1027Hc.3080G>ASubstitution - Missense23856246
IFT172ENSG00000138002ENST00000260570p.Y1299Cc.3896A>GSubstitution - Missense23856246
AGTPBP1ENSG00000135049ENST00000357081p.S786Lc.2357C>TSubstitution - Missense23856246
STAB2ENSG00000136011ENST00000388887p.D153Nc.457G>ASubstitution - Missense23856246
ZYXENSG00000159840ENST00000322764p.A525Tc.1573G>ASubstitution - Missense23856246
GPLD1ENSG00000112293ENST00000230036p.R714Hc.2141G>ASubstitution - Missense23856246
TSTENSG00000128311ENST00000249042p.G55Sc.163G>ASubstitution - Missense23856246
TROAPENSG00000135451ENST00000257909p.P685fs*8c.2054delCDeletion - Frameshift23856246
PRKCBENSG00000166501ENST00000303531p.R465Hc.1394G>ASubstitution - Missense23856246
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense23856246
SMG6ENSG00000070366ENST00000263073p.R739Qc.2216G>ASubstitution - Missense23856246
PGAP2ENSG00000148985ENST00000300730p.R306*c.916C>TSubstitution - Nonsense23856246
POLA1ENSG00000101868ENST00000379059p.R921Wc.2761C>TSubstitution - Missense23856246
PRR5ENSG00000186654ENST00000403581p.R176Qc.527G>ASubstitution - Missense23856246
SYNE1ENSG00000131018ENST00000265368p.R7155*c.21463C>TSubstitution - Nonsense23856246
PNPLA6ENSG00000032444ENST00000414982p.R562Hc.1685G>ASubstitution - Missense23856246
USP2ENSG00000036672ENST00000260187p.R397*c.1189C>TSubstitution - Nonsense23856246
ZNF627ENSG00000198551ENST00000361113p.R141Hc.422G>ASubstitution - Missense23856246
SEC61A1ENSG00000058262ENST00000243253p.S197Nc.590G>ASubstitution - Missense23856246
MGAT5BENSG00000167889ENST00000301618p.R153Wc.457C>TSubstitution - Missense23856246
GPATCH2ENSG00000092978ENST00000366935p.G433*c.1297G>TSubstitution - Nonsense23856246
MUC13ENSG00000173702ENST00000311075p.M275Ic.825G>ASubstitution - Missense23856246
MAGI1ENSG00000151276ENST00000483466p.E823fs*31c.2455_2456delGADeletion - Frameshift23856246
AUTS2ENSG00000158321ENST00000342771p.V1014Mc.3040G>ASubstitution - Missense23856246
MOCS1ENSG00000124615ENST00000340692p.R222Qc.665G>ASubstitution - Missense23856246
KRASENSG00000133703ENST00000256078p.G12Dc.35G>ASubstitution - Missense23856246
SHANK1ENSG00000161681ENST00000293441p.R1170Hc.3509G>ASubstitution - Missense23856246
ICKENSG00000112144ENST00000350082p.P369_L372delPSPLc.1104_1115del12Deletion - In frame23856246
GOPCENSG00000047932ENST00000368498p.G5Dc.14G>ASubstitution - Missense23856246
SHROOM2ENSG00000146950ENST00000380913p.R1508Cc.4522C>TSubstitution - Missense23856246
PGM2L1ENSG00000165434ENST00000298198p.R178Cc.532C>TSubstitution - Missense23856246
CD163ENSG00000177575ENST00000396620p.R617Hc.1850G>ASubstitution - Missense23856246
AGXTENSG00000172482ENST00000307503p.R118Hc.353G>ASubstitution - Missense23856246
THBS4ENSG00000113296ENST00000350881p.S624Fc.1871C>TSubstitution - Missense23856246
NM_006312.2p.E1335Kc.4003G>ASubstitution - Missense23856246
SEMA5BENSG00000082684ENST00000451055p.A858Vc.2573C>TSubstitution - Missense23856246
GFAPENSG00000131095ENST00000435360p.T302Mc.905C>TSubstitution - Missense23856246
OGFRENSG00000060491ENST00000370461p.G536*c.1606G>TSubstitution - Nonsense23856246
PGAP2ENSG00000148985ENST00000278243p.R314*c.940C>TSubstitution - Nonsense23856246
ALKENSG00000171094ENST00000389048p.R1209*c.3625C>TSubstitution - Nonsense23856246
HSPA2ENSG00000126803ENST00000394709p.R272Cc.814C>TSubstitution - Missense23856246
NUMA1ENSG00000137497ENST00000393695p.R744*c.2230C>TSubstitution - Nonsense23856246
ZCCHC13ENSG00000187969ENST00000339534p.G116Sc.346G>ASubstitution - Missense23856246
DFNB31ENSG00000095397ENST00000374059p.T174Mc.521C>TSubstitution - Missense23856246
ZFP3ENSG00000180787ENST00000318833p.R186Qc.557G>ASubstitution - Missense23856246
MYH15ENSG00000144821ENST00000273353p.R165*c.493C>TSubstitution - Nonsense23856246
PDZD2ENSG00000133401ENST00000282493p.T569Mc.1706C>TSubstitution - Missense23856246
ESR2ENSG00000140009ENST00000341099p.G318Sc.952G>ASubstitution - Missense23856246
GIT2ENSG00000139436ENST00000355312p.V395Mc.1183G>ASubstitution - Missense23856246
SDC3ENSG00000162512ENST00000336798p.P116Lc.347C>TSubstitution - Missense23856246
PIWIL3ENSG00000184571ENST00000332271p.R723Qc.2168G>ASubstitution - Missense23856246
SFRP1ENSG00000104332ENST00000220772p.R137Hc.410G>ASubstitution - Missense23856246
SLC7A10ENSG00000130876ENST00000253188p.C154Yc.461G>ASubstitution - Missense23856246
GLI1ENSG00000111087ENST00000228682p.R372Cc.1114C>TSubstitution - Missense23856246
MAP3K3ENSG00000198909ENST00000361733p.R277Wc.829C>TSubstitution - Missense23856246
COL5A2ENSG00000204262ENST00000374866p.R1067Cc.3199C>TSubstitution - Missense23856246
ZNF398ENSG00000197024ENST00000475153p.R530Qc.1589G>ASubstitution - Missense23856246
MKXENSG00000150051ENST00000375790p.G69Rc.205G>ASubstitution - Missense23856246
KIAA0355ENSG00000166398ENST00000299505p.Q777Hc.2331G>CSubstitution - Missense23856246
TP53ENSG00000141510ENST00000413465p.R175Hc.524G>ASubstitution - Missense23856246
LAMA1ENSG00000101680ENST00000389658p.R2537Cc.7609C>TSubstitution - Missense23856246
OTOFENSG00000115155ENST00000272371p.R970Hc.2909G>ASubstitution - Missense23856246
NINJ2ENSG00000171840ENST00000305108p.R135Wc.403C>TSubstitution - Missense23856246
TP53ENSG00000141510ENST00000455263p.R248Qc.743G>ASubstitution - Missense23856246
HOXB1ENSG00000120094ENST00000239174p.A27_P28insHSAc.64_65insACAGCGCCCInsertion - In frame23856246
TTC21AENSG00000168026ENST00000431162p.R1127Wc.3379C>TSubstitution - Missense23856246
RAB14ENSG00000119396ENST00000373840p.R72Qc.215G>ASubstitution - Missense23856246
RHOT1ENSG00000126858ENST00000358365p.R691*c.2071C>TSubstitution - Nonsense23856246
DAB2IPENSG00000136848ENST00000309989p.P662Lc.1985C>TSubstitution - Missense23856246
PAQR9ENSG00000188582ENST00000340634p.R195Cc.583C>TSubstitution - Missense23856246
ADARB2ENSG00000185736ENST00000381312p.A389Vc.1166C>TSubstitution - Missense23856246
NM_000032.1p.R511Wc.1531C>TSubstitution - Missense23856246
CLK4ENSG00000113240ENST00000316308p.I177Lc.529A>CSubstitution - Missense23856246
RAB8BENSG00000166128ENST00000321437p.K10Ec.28A>GSubstitution - Missense23856246
FAM198BENSG00000164125ENST00000296530p.R184Wc.550C>TSubstitution - Missense23856246
C3ENSG00000125730ENST00000245907p.I888Tc.2663T>CSubstitution - Missense23856246
SYNE1ENSG00000131018ENST00000423061p.S8352Ic.25055G>TSubstitution - Missense23856246
TAB3ENSG00000157625ENST00000378933p.R44*c.130C>TSubstitution - Nonsense23856246
ENST00000405167p.R4423Wc.13267C>TSubstitution - Missense23856246
OTOFENSG00000115155ENST00000339598p.R223Hc.668G>ASubstitution - Missense23856246
SMPD3ENSG00000103056ENST00000219334p.D358Gc.1073A>GSubstitution - Missense23856246
ENST00000419934p.R61Cc.181C>TSubstitution - Missense23856246
NKX6-2ENSG00000148826ENST00000368592p.R200Qc.599G>ASubstitution - Missense23856246
TBC1D31ENSG00000156787ENST00000287380p.R913*c.2737C>TSubstitution - Nonsense23856246
RPL37AENSG00000197756ENST00000491306p.A65Dc.194C>ASubstitution - Missense23856246
PHLPP2ENSG00000040199ENST00000356272p.A1068fs*6c.3198_3199insCInsertion - Frameshift23856246
NKAPENSG00000101882ENST00000371410p.S202delSc.600_602delATCDeletion - In frame23856246
TRUB1ENSG00000165832ENST00000298746p.G135Rc.403G>ASubstitution - Missense23856246
NOTCH1ENSG00000148400ENST00000277541p.P2412Tc.7234C>ASubstitution - Missense15472075
NOTCH1ENSG00000148400ENST00000277541p.L1593_R1594ins12c.4780_4781ins36Insertion - In frame15472075
NOTCH1ENSG00000148400ENST00000277541p.P2412Sc.?Substitution - Missense17575125
NOTCH1ENSG00000148400ENST00000277541p.L1594_R1595ins12c.?Insertion - In frame17575125
FBXW7ENSG00000109670ENST00000281708p.R465Cc.1393C>TSubstitution - Missense17575125
PTENENSG00000171862ENST00000371953p.?fsc.?del?Deletion - Frameshift9596690
PHF23ENSG00000040633ENST00000320316p.R322Wc.964C>TSubstitution - Missense23856246
GFAPENSG00000131095ENST00000253408p.T302Mc.905C>TSubstitution - Missense23856246
FBXL2ENSG00000153558ENST00000484457p.R386Wc.1156C>TSubstitution - Missense23856246
ABCB5ENSG00000004846ENST00000404938p.T552Mc.1655C>TSubstitution - Missense23856246
PLXNB3ENSG00000198753ENST00000538966p.V647Ic.1939G>ASubstitution - Missense23856246
YEATS2ENSG00000163872ENST00000305135p.I1025_S1026>Tc.3074_3076delTCTComplex - deletion inframe23856246
PFASENSG00000178921ENST00000314666p.V668Fc.2002G>TSubstitution - Missense23856246
SU_NEK10p.P611Lc.1832C>TSubstitution - Missense23856246
ZNF512BENSG00000196700ENST00000369888p.R335Hc.1004G>ASubstitution - Missense23856246
SEMA7AENSG00000138623ENST00000261918p.M505Vc.1513A>GSubstitution - Missense23856246
LRP1BENSG00000168702ENST00000389484p.L3179Pc.9536T>CSubstitution - Missense23856246
HDAC7ENSG00000061273ENST00000080059p.C18Yc.53G>ASubstitution - Missense23856246
ING1ENSG00000153487ENST00000375774p.R211Wc.631C>TSubstitution - Missense23856246
STON1ENSG00000243244ENST00000309835p.P575Ac.1723C>GSubstitution - Missense23856246
DTNAENSG00000134769ENST00000269190p.R495Wc.1483C>TSubstitution - Missense23856246
ATP6V1B1ENSG00000116039ENST00000234396p.R56Wc.166C>TSubstitution - Missense23856246
DIS3LENSG00000166938ENST00000319212p.D804fs*3c.2412delTDeletion - Frameshift23856246
ABCB5ENSG00000004846ENST00000258738p.T107Mc.320C>TSubstitution - Missense23856246
KMT2CENSG00000055609ENST00000355193p.R164Kc.491G>ASubstitution - Missense23856246
OLFM4ENSG00000102837ENST00000219022p.Y334Cc.1001A>GSubstitution - Missense23856246