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CCK-81 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

6190 mutations reported
1907 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
C1QCENSG00000159189ENST00000374637p.A172Tc.514G>ASubstitution - Missense
IQSEC1ENSG00000144711ENST00000273221p.G881Gc.2643C>TSubstitution - coding silent
SOX6ENSG00000110693ENST00000316399p.R122Cc.364C>TSubstitution - Missense
PIGRENSG00000162896ENST00000356495p.A580Tc.1738G>ASubstitution - Missense
RGL1ENSG00000143344ENST00000304685p.R298Qc.893G>ASubstitution - Missense
EPHB4ENSG00000196411ENST00000358173p.S575Lc.1724C>TSubstitution - Missense
TFAP2DENSG00000008197ENST00000008391p.L351Ic.1051C>ASubstitution - Missense
FBXW7ENSG00000109670ENST00000281708p.R465Cc.1393C>TSubstitution - Missense
NM_147171.1p.R3314Wc.9940C>TSubstitution - Missense
B2MENSG00000166710ENST00000558401p.L15fs*41c.37_38delCTDeletion - Frameshift
NRXN2ENSG00000110076ENST00000377551p.A270fs*27c.808_809insGInsertion - Frameshift
KIAA1462ENSG00000165757ENST00000375377p.A33Vc.98C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.P278Hc.833C>ASubstitution - Missense
ARR3ENSG00000120500ENST00000307959p.I228fs*6c.682_683insAInsertion - Frameshift
FLCNENSG00000154803ENST00000285071p.H429fs*39c.1285delCDeletion - Frameshift
FBXW7ENSG00000109670ENST00000281708p.R465Cc.1393C>TSubstitution - Missense
TAF1LENSG00000122728ENST00000242310p.A852fs*14c.2553delADeletion - Frameshift
CTNNB1ENSG00000168036ENST00000349496p.T41Ac.121A>GSubstitution - Missense
NM_006218.1p.C420Rc.1258T>CSubstitution - Missense
HCN4ENSG00000138622ENST00000261917p.R387Cc.1159C>TSubstitution - Missense
TLK2ENSG00000146872ENST00000346027p.R262Qc.785G>ASubstitution - Missense
TLK2ENSG00000146872ENST00000326270p.R262Qc.785G>ASubstitution - Missense
SYNJ2ENSG00000078269ENST00000355585p.P1113fs*5c.3331delCDeletion - Frameshift
FCHO2ENSG00000157107ENST00000430046p.N15fs*11c.38delADeletion - Frameshift
HCFC1R1ENSG00000103145ENST00000574151p.M65fs*1c.192delCDeletion - Frameshift
EPHA3ENSG00000044524ENST00000452448p.V412Ic.1234G>ASubstitution - Missense
ENST00000402998p.G709fs*3c.2118delADeletion - Frameshift
ZNF292ENSG00000188994ENST00000339907p.S1904fs*11c.5702delADeletion - Frameshift
ZNF292ENSG00000188994ENST00000369577p.S2049fs*11c.6137delADeletion - Frameshift
CNOT1ENSG00000125107ENST00000317147p.T2297Mc.6890C>TSubstitution - Missense
SLC16A9ENSG00000165449ENST00000395347p.S108fs*26c.322_323insTInsertion - Frameshift
DOCK3ENSG00000088538ENST00000266037p.P1852fs*45c.5549delCDeletion - Frameshift
CCDC146ENSG00000135205ENST00000285871p.A880Tc.2638G>ASubstitution - Missense
ZC3H11AENSG00000058673ENST00000367210p.T443fs*2c.1321delADeletion - Frameshift
IGSF10ENSG00000152580ENST00000282466p.G1018Rc.3052G>ASubstitution - Missense
PLOD3ENSG00000106397ENST00000223127p.R297fs*61c.889delCDeletion - Frameshift
SLC26A5ENSG00000170615ENST00000306312p.I57fs*1c.169delADeletion - Frameshift
WDR96ENSG00000197748ENST00000357060p.G69Gc.207C>TSubstitution - coding silent
CBLBENSG00000114423ENST00000264122p.D448Nc.1342G>ASubstitution - Missense
DROSHAENSG00000113360ENST00000511367p.S539Sc.1617C>TSubstitution - coding silent
TEX33ENSG00000185264ENST00000402860p.A11Vc.32C>TSubstitution - Missense
NWD1ENSG00000188039ENST00000339803p.R1285Hc.3854G>ASubstitution - Missense
DDX42ENSG00000198231ENST00000578681p.R429Hc.1286G>ASubstitution - Missense
KRT13ENSG00000171401ENST00000246635p.G47Gc.141C>TSubstitution - coding silent
PHOX2AENSG00000165462ENST00000298231p.A124Vc.371C>TSubstitution - Missense
DNMBPENSG00000107554ENST00000324109p.P143Pc.429G>ASubstitution - coding silent
MACF1ENSG00000127603ENST00000360115p.R4738Qc.14213G>ASubstitution - Missense
IGFN1ENSG00000163395ENST00000335211p.P86Lc.257C>TSubstitution - Missense
SUCOENSG00000094975ENST00000263688p.A48Tc.142G>ASubstitution - Missense
FLAD1ENSG00000160688ENST00000292180p.R530Cc.1588C>TSubstitution - Missense
IMPA1ENSG00000133731ENST00000256108p.V234Mc.700G>ASubstitution - Missense
SLC2A7ENSG00000197241ENST00000400906p.G87Gc.261C>TSubstitution - coding silent
TNNENSG00000120332ENST00000239462p.A646Tc.1936G>ASubstitution - Missense
CBWD1ENSG00000172785ENST00000356521p.?c.431-1G>CUnknown
ATF6ENSG00000118217ENST00000367942p.A145Ac.435G>TSubstitution - coding silent
KLHL3ENSG00000146021ENST00000309755p.D368Dc.1104C>TSubstitution - coding silent
PRRC2BENSG00000130723ENST00000357304p.V190Ic.568G>ASubstitution - Missense
ANKRD36ENSG00000135976ENST00000420699p.D966Dc.2898C>TSubstitution - coding silent
IL10RBENSG00000243646ENST00000290200p.R130Cc.388C>TSubstitution - Missense
PCDHA7ENSG00000204963ENST00000525929p.R428Wc.1282C>TSubstitution - Missense
OR1C1ENSG00000221888ENST00000408896p.A257Tc.769G>ASubstitution - Missense
NLRP8ENSG00000179709ENST00000291971p.A486Tc.1456G>ASubstitution - Missense
PYHIN1ENSG00000163564ENST00000368140p.P312Pc.936G>ASubstitution - coding silent
CDK13ENSG00000065883ENST00000181839p.T1246Mc.3737C>TSubstitution - Missense
SLC34A1ENSG00000131183ENST00000324417p.V115Ic.343G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.P278Hc.833C>ASubstitution - Missense
PIK3C2BENSG00000133056ENST00000367187p.R287fs*92c.859delCDeletion - Frameshift
TBCKENSG00000145348ENST00000273980p.S729Lc.2186C>TSubstitution - Missense
ANAPC2ENSG00000176248ENST00000323927p.V328Mc.982G>ASubstitution - Missense
NM_014363.3p.K1570fs*8c.4710delADeletion - Frameshift
LRFN4ENSG00000173621ENST00000309602p.G524fs*100c.1566delGDeletion - Frameshift
C16orf46ENSG00000166455ENST00000299578p.G122fs*82c.365delGDeletion - Frameshift
FBXW7ENSG00000109670ENST00000296555p.R347Cc.1039C>TSubstitution - Missense
TLK2ENSG00000146872ENST00000346027p.R262Qc.785G>ASubstitution - Missense
DMDENSG00000198947ENST00000378677p.A2451Tc.7351G>ASubstitution - Missense
ABHD17BENSG00000107362ENST00000333421p.A245Tc.733G>ASubstitution - Missense
NM_001702.1p.G1321Sc.3961G>ASubstitution - Missense
SUPT3HENSG00000196284ENST00000371460p.E132Kc.394G>ASubstitution - Missense
MAN1A1ENSG00000111885ENST00000368468p.P546Sc.1636C>TSubstitution - Missense
DLL1ENSG00000198719ENST00000366756p.A627Tc.1879G>ASubstitution - Missense
PCDHB13ENSG00000187372ENST00000341948p.T405Mc.1214C>TSubstitution - Missense
PPP2R2BENSG00000156475ENST00000336640p.S288Lc.863C>TSubstitution - Missense
PPP2R2BENSG00000156475ENST00000394409p.S343Lc.1028C>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.T858Tc.2574G>ASubstitution - coding silent
RNF4ENSG00000063978ENST00000314289p.C188Cc.564C>TSubstitution - coding silent
LEF1ENSG00000138795ENST00000265165p.?c.846-7_846-6insACCUnknown
ROBO1ENSG00000169855ENST00000495273p.R1427Cc.4279C>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.R1472Cc.4414C>TSubstitution - Missense
IL1R2ENSG00000115590ENST00000393414p.A19Vc.56C>TSubstitution - Missense
RASAL2ENSG00000075391ENST00000367649p.K389fs*7c.1159delADeletion - Frameshift
LCE1CENSG00000197084ENST00000368768p.S110fs*>9c.327delGDeletion - Frameshift
FAM189BENSG00000160767ENST00000361361p.P396fs*44c.1187delCDeletion - Frameshift
CASZ1ENSG00000130940ENST00000377022p.Y177Yc.531C>TSubstitution - coding silent
SLC16A1ENSG00000155380ENST00000369626p.P14fs*10c.41delCDeletion - Frameshift
FANCAENSG00000187741ENST00000389301p.A430Vc.1289C>TSubstitution - Missense
NEDD9ENSG00000111859ENST00000379446p.A728Tc.2182G>ASubstitution - Missense
NEDD9ENSG00000111859ENST00000379446p.A728Tc.2182G>ASubstitution - Missense
NEDD9ENSG00000111859ENST00000504387p.A728Tc.2182G>ASubstitution - Missense
RANGAP1ENSG00000100401ENST00000356244p.E395Ec.1185A>GSubstitution - coding silent
CYP2U1ENSG00000155016ENST00000332884p.L446Mc.1336C>ASubstitution - Missense
MVKENSG00000110921ENST00000228510p.A141fs*18c.412delCDeletion - Frameshift
C22orf42ENSG00000205856ENST00000382097p.S158Pc.472T>CSubstitution - Missense
JARID2ENSG00000008083ENST00000341776p.R425fs*36c.1266delGDeletion - Frameshift
ZNF564ENSG00000249709ENST00000339282p.R157Qc.470G>ASubstitution - Missense
MYO1EENSG00000157483ENST00000288235p.R207Qc.620G>ASubstitution - Missense
KRTAP12-3ENSG00000205439ENST00000397907p.V28Mc.82G>ASubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.R261Cc.781C>TSubstitution - Missense
ENST00000300671p.A2843Vc.8528C>TSubstitution - Missense
EFTUD2ENSG00000108883ENST00000426333p.A445Tc.1333G>ASubstitution - Missense
ESRRGENSG00000196482ENST00000408911p.V53Ic.157G>ASubstitution - Missense
CDH2ENSG00000170558ENST00000269141p.R697Hc.2090G>ASubstitution - Missense
MORC3ENSG00000159256ENST00000400485p.R848Hc.2543G>ASubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.G434fs*3c.1293delADeletion - Frameshift
EPS8L1ENSG00000131037ENST00000201647p.A619Gc.1856C>GSubstitution - Missense
ARHGAP28ENSG00000088756ENST00000314319p.F196fs*8c.583delTDeletion - Frameshift
ABL1ENSG00000097007ENST00000318560p.A922Vc.2765C>TSubstitution - Missense
TMPOENSG00000120802ENST00000266732p.T99fs*12c.288delADeletion - Frameshift
CTCFENSG00000102974ENST00000264010p.T204fs*26c.603_604insAInsertion - Frameshift
ZNF831ENSG00000124203ENST00000371030p.T52fs*4c.146delCDeletion - Frameshift
NR2C2ENSG00000177463ENST00000323373p.F582fs*10c.1739delTDeletion - Frameshift
U2AF2ENSG00000063244ENST00000308924p.P234Pc.702G>ASubstitution - coding silent
WDR81ENSG00000167716ENST00000309182p.H701fs*33c.2096delCDeletion - Frameshift
CES1ENSG00000198848ENST00000360526p.A223Vc.668C>TSubstitution - Missense
E4F1ENSG00000167967ENST00000301727p.R492Cc.1474C>TSubstitution - Missense
ZNF668ENSG00000167394ENST00000539836p.G529fs*23c.1586delGDeletion - Frameshift
ZNF668ENSG00000167394ENST00000394983p.G506fs*23c.1517delGDeletion - Frameshift
IREB2ENSG00000136381ENST00000258886p.S749fs*14c.2244_2245delCTDeletion - Frameshift
DMXL2ENSG00000104093ENST00000251076p.L109fs*1c.326delTDeletion - Frameshift
PRTGENSG00000166450ENST00000389286p.F1056fs*30c.3167delTDeletion - Frameshift
DPP8ENSG00000074603ENST00000300141p.Q442fs*29c.1320delTDeletion - Frameshift
ADAM21ENSG00000139985ENST00000267499p.L684fs*3c.2045delTDeletion - Frameshift
KATNBL1ENSG00000134152ENST00000256544p.S145fs*19c.433delTDeletion - Frameshift
BRCA2ENSG00000139618ENST00000544455p.T3033fs*29c.9090delADeletion - Frameshift
BRCA2ENSG00000139618ENST00000380152p.T3033fs*29c.9090delADeletion - Frameshift
SETDB2ENSG00000136169ENST00000317257p.M506fs*24c.1510delADeletion - Frameshift
AHNAK2ENSG00000185567ENST00000333244p.D983fs*9c.2947delGDeletion - Frameshift
ENST00000456228p.N1250fs*3c.3742delADeletion - Frameshift
ENST00000456228p.N1250fs*3c.3742delADeletion - Frameshift
ZMYM2ENSG00000121741ENST00000382869p.N1250fs*3c.3742delADeletion - Frameshift
TENC1ENSG00000111077ENST00000314276p.P505fs*25c.1508delCDeletion - Frameshift
TENC1ENSG00000111077ENST00000314250p.P495fs*25c.1478delCDeletion - Frameshift
KLRK1ENSG00000213809ENST00000240618p.F55fs*7c.164delTDeletion - Frameshift
SLC22A6ENSG00000197901ENST00000377871p.F259fs*27c.777delTDeletion - Frameshift
NM_002426.1p.V108fs*18c.318delGDeletion - Frameshift
NDST2ENSG00000166507ENST00000309979p.L189Pc.566T>CSubstitution - Missense
SLC16A12ENSG00000152779ENST00000341233p.F43fs*22c.129delTDeletion - Frameshift
ZMYM1ENSG00000197056ENST00000373330p.T506fs*15c.1510delADeletion - Frameshift
TOE1ENSG00000132773ENST00000372090p.P208Pc.624T>CSubstitution - coding silent
RAB4AENSG00000168118ENST00000366690p.K37fs*10c.104delADeletion - Frameshift
ASPMENSG00000066279ENST00000367409p.R2515Qc.7544G>ASubstitution - Missense
CHIT1ENSG00000133063ENST00000367229p.A57Tc.169G>ASubstitution - Missense
LEMD1ENSG00000186007ENST00000367153p.K37fs*2c.110delADeletion - Frameshift
ENST00000263528p.K371fs*7c.1105delADeletion - Frameshift
RASAL2ENSG00000075391ENST00000462775p.K241fs*7c.715delADeletion - Frameshift
TCOF1ENSG00000070814ENST00000323668p.E1379fs*>33c.4127delADeletion - Frameshift
FAT2ENSG00000086570ENST00000261800p.Y3462fs*16c.10383delCDeletion - Frameshift
ATP10DENSG00000145246ENST00000273859p.L617fs*41c.1842delGDeletion - Frameshift
MAP9ENSG00000164114ENST00000311277p.K567fs*13c.1700delADeletion - Frameshift
GNL3ENSG00000163938ENST00000418458p.K24fs*9c.65delADeletion - Frameshift
HTR1FENSG00000179097ENST00000319595p.F310fs*2c.924delTDeletion - Frameshift
XRN1ENSG00000114127ENST00000264951p.R1611fs*34c.4831delADeletion - Frameshift
NF2ENSG00000186575ENST00000338641p.R172fs*2c.510delADeletion - Frameshift
NF2ENSG00000186575ENST00000403999p.R172fs*2c.510delADeletion - Frameshift
ENST00000397994p.G30fs*151c.84delGDeletion - Frameshift
SLC19A1ENSG00000173638ENST00000311124p.A302Vc.905C>TSubstitution - Missense
NAPBENSG00000125814ENST00000377026p.N57fs*48c.170delADeletion - Frameshift
PSME4ENSG00000068878ENST00000404125p.T1805fs*>39c.5413delADeletion - Frameshift
RTN4ENSG00000115310ENST00000357376p.V464fs*4c.1389delADeletion - Frameshift
KLHL30ENSG00000168427ENST00000409223p.R73Hc.218G>ASubstitution - Missense
KANSL1LENSG00000144445ENST00000281772p.N311fs*63c.932delADeletion - Frameshift
IRS1ENSG00000169047ENST00000305123p.H598fs*38c.1791delGDeletion - Frameshift
SNAPC2ENSG00000104976ENST00000221573p.P294fs*11c.875delCDeletion - Frameshift
CATSPERGENSG00000099338ENST00000312265p.P524fs*18c.1566delCDeletion - Frameshift
MEGF8ENSG00000105429ENST00000334370p.G2076fs*20c.6221delGDeletion - Frameshift
MEGF8ENSG00000105429ENST00000251268p.G1684fs*20c.5045delGDeletion - Frameshift
ENST00000251268_v61p.G2143fs*20c.6422delGDeletion - Frameshift
TSKSENSG00000126467ENST00000246801p.G575fs*>18c.1724delGDeletion - Frameshift
ARMC6ENSG00000105676ENST00000535612p.C127Cc.381C>TSubstitution - coding silent
ZNF506ENSG00000081665ENST00000443905p.G116fs*5c.345delADeletion - Frameshift
ZNF540ENSG00000171817ENST00000316433p.F281fs*4c.837delTDeletion - Frameshift
LAMA1ENSG00000101680ENST00000389658p.A582Vc.1745C>TSubstitution - Missense
CCDC178ENSG00000166960ENST00000383096p.N572fs*19c.1715delADeletion - Frameshift
ENST00000316893p.R2017fs*28c.6048delCDeletion - Frameshift
ENST00000300671p.N4126fs*34c.12375delCDeletion - Frameshift
EFCAB13ENSG00000178852ENST00000331493p.S342fs*25c.1018delADeletion - Frameshift
DOCK7ENSG00000116641ENST00000340370p.F473fs*8c.1419delTDeletion - Frameshift
CDADC1ENSG00000102543ENST00000251108p.P425Pc.1275A>GSubstitution - coding silent
LEF1ENSG00000138795ENST00000510624p.?c.558-7_558-6insACCUnknown
PPP2R2BENSG00000156475ENST00000394413p.S285Lc.854C>TSubstitution - Missense
CCDC60ENSG00000183273ENST00000327554p.I198fs*44c.586delADeletion - Frameshift
HNF4GENSG00000164749ENST00000396423p.R251Cc.751C>TSubstitution - Missense
NM_004133.3p.R214Cc.640C>TSubstitution - Missense
NM_015691.2p.G199Gc.597C>TSubstitution - coding silent
EPHA1ENSG00000146904ENST00000275815p.I565Lc.1693A>CSubstitution - Missense
ABCG5ENSG00000138075ENST00000260645p.R199Cc.595C>TSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.G4321Cc.12961G>TSubstitution - Missense
RPGRIP1ENSG00000092200ENST00000400017p.A129Tc.385G>ASubstitution - Missense
GLI2ENSG00000074047ENST00000361492p.R229Hc.686G>ASubstitution - Missense
BMP15ENSG00000130385ENST00000252677p.R204Qc.611G>ASubstitution - Missense
TSPYL2ENSG00000184205ENST00000375442p.S127fs*20c.372delGDeletion - Frameshift
FUBP3ENSG00000107164ENST00000319725p.P395fs*27c.1179delCDeletion - Frameshift
LAMC3ENSG00000050555ENST00000361069p.D568fs*8c.1693delCDeletion - Frameshift
ADAM7ENSG00000069206ENST00000175238p.L594fs*29c.1775delTDeletion - Frameshift
EIF2AK1ENSG00000086232ENST00000199389p.I198fs*2c.592delADeletion - Frameshift
INTS1ENSG00000164880ENST00000389470p.R986fs*11c.2956delCDeletion - Frameshift
GRM8ENSG00000179603ENST00000339582p.H720fs*12c.2158delCDeletion - Frameshift
DENND2AENSG00000146966ENST00000275884p.R36Rc.108A>GSubstitution - coding silent
SLC26A8ENSG00000112053ENST00000355574p.N842fs*2c.2525delADeletion - Frameshift
MDGA1ENSG00000112139ENST00000434837p.T793fs*3c.2376delCDeletion - Frameshift
FOXP4ENSG00000137166ENST00000373063p.L271fs*95c.805delCDeletion - Frameshift
ZNF451ENSG00000112200ENST00000370706p.P926Lc.2777C>TSubstitution - Missense
USTENSG00000111962ENST00000367463p.L373fs*20c.1110_1111insCInsertion - Frameshift
ERMARDENSG00000130023ENST00000366773p.M353Vc.1057A>GSubstitution - Missense
ZNF131ENSG00000172262ENST00000306938p.R145fs*26c.427delADeletion - Frameshift
MOCS2ENSG00000164172ENST00000361377p.I85fs*>4c.252delCDeletion - Frameshift
SLC39A5ENSG00000139540ENST00000266980p.L289Pc.866T>CSubstitution - Missense
MYL6ENSG00000092841ENST00000550697p.H111Hc.333T>CSubstitution - coding silent
RDH5ENSG00000135437ENST00000257895p.S58Sc.174C>TSubstitution - coding silent
ESPL1ENSG00000135476ENST00000257934p.P539Pc.1617T>CSubstitution - coding silent
SOAT2ENSG00000167780ENST00000301466p.N389Kc.1167C>ASubstitution - Missense
KRT18ENSG00000111057ENST00000388835p.K207Rc.620A>GSubstitution - Missense
EIF4BENSG00000063046ENST00000262056p.W199Rc.595T>CSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.P2458Lc.7373C>TSubstitution - Missense
EIF4G3ENSG00000075151ENST00000264211p.?c.656-6C>TUnknown
EIF4G3ENSG00000075151ENST00000374937p.A441Ac.1323T>CSubstitution - coding silent
EIF4G3ENSG00000075151ENST00000374937p.G699Gc.2097C>TSubstitution - coding silent
EIF4G3ENSG00000075151ENST00000544689p.G236Gc.708C>TSubstitution - coding silent
DIEXFENSG00000117597ENST00000491415p.V732Ac.2195T>CSubstitution - Missense
CD55ENSG00000196352ENST00000391920p.I383Ic.1149C>ASubstitution - coding silent
PIGRENSG00000162896ENST00000356495p.V362fs*81c.1084delGDeletion - Frameshift
MAPKAPK2ENSG00000162889ENST00000367103p.?c.280-5T>CUnknown
IL24ENSG00000162892ENST00000294984p.Q50Rc.149A>GSubstitution - Missense
IL24ENSG00000162892ENST00000294984p.P58Sc.172C>TSubstitution - Missense
RASSF5ENSG00000136653ENST00000304534p.T98Mc.293C>TSubstitution - Missense
ENST00000338603p.T251Mc.752C>TSubstitution - Missense
RASSF5ENSG00000136653ENST00000304534p.F127Vc.379T>GSubstitution - Missense
RASSF5ENSG00000136653ENST00000355294p.F280Vc.838T>GSubstitution - Missense
IKBKEENSG00000143466ENST00000367120p.F335fs*45c.1001delTDeletion - Frameshift
SLC25A2ENSG00000120329ENST00000239451p.Y55Yc.165C>TSubstitution - coding silent
FMN2ENSG00000155816ENST00000319653p.P1253Pc.3759G>TSubstitution - coding silent
RNF219ENSG00000152193ENST00000282003p.S716Pc.2146T>CSubstitution - Missense
ANKRD35ENSG00000198483ENST00000355594p.A573Tc.1717G>ASubstitution - Missense
LRRC43ENSG00000158113ENST00000425921p.I376fs*10c.1119delCDeletion - Frameshift
XM_370630.2p.G225Gc.675G>CSubstitution - coding silent
LRP12ENSG00000147650ENST00000276654p.V509Ic.1525G>ASubstitution - Missense
POLR3BENSG00000013503ENST00000228347p.T939Tc.2817G>TSubstitution - coding silent
RFX4ENSG00000111783ENST00000229387p.R27Gc.79A>GSubstitution - Missense
CKAP4ENSG00000136026ENST00000378026p.A556Ac.1668T>GSubstitution - coding silent
DACH1ENSG00000165659ENST00000305425p.R437Rc.1311T>CSubstitution - coding silent
PCDH9ENSG00000184226ENST00000377865p.G1067Sc.3199G>ASubstitution - Missense
PCDH9ENSG00000184226ENST00000377865p.T979Tc.2937C>ASubstitution - coding silent
PCDH17ENSG00000118946ENST00000377918p.A245Vc.734C>TSubstitution - Missense
KPNA3ENSG00000102753ENST00000261667p.I115Vc.343A>GSubstitution - Missense
RB1ENSG00000139687ENST00000267163p.S114Sc.342G>ASubstitution - coding silent
RB1ENSG00000139687ENST00000267163p.S114Sc.342G>ASubstitution - coding silent
KIAA0226LENSG00000102445ENST00000322896p.M1Lc.1A>TSubstitution - Missense
LRCH1ENSG00000136141ENST00000389798p.L162Mc.484C>ASubstitution - Missense
LRRC63ENSG00000173988ENST00000446175p.T256Ac.766A>GSubstitution - Missense
ENOX1ENSG00000120658ENST00000261488p.D44Dc.132T>CSubstitution - coding silent
AKAP11ENSG00000023516ENST00000025301p.S613Gc.1837A>GSubstitution - Missense
FOXO1ENSG00000150907ENST00000379561p.G208Dc.623G>ASubstitution - Missense
FOXO1ENSG00000150907ENST00000379561p.G208Dc.623G>ASubstitution - Missense
WBP4ENSG00000120688ENST00000379487p.?c.262+3_262+13delaaaaaaaaaaaUnknown
UBE2Q2ENSG00000140367ENST00000267938p.Y355Hc.1063T>CSubstitution - Missense
SIN3AENSG00000169375ENST00000394947p.T871Ac.2611A>GSubstitution - Missense
SIN3AENSG00000169375ENST00000394947p.R19Wc.55C>TSubstitution - Missense
CYP1A1ENSG00000140465ENST00000395048p.A250Ac.750C>ASubstitution - coding silent
CLK3ENSG00000179335ENST00000345005p.T243Ac.727A>GSubstitution - Missense
PMLENSG00000140464ENST00000435786p.E551fs*8c.1648delGDeletion - Frameshift
PMLENSG00000140464ENST00000268058p.A300Vc.899C>TSubstitution - Missense
PMLENSG00000140464ENST00000435786p.A300Vc.899C>TSubstitution - Missense
ENST00000398840_v65p.A180Ac.540T>CSubstitution - coding silent
ENST00000326995p.A92Ac.276T>CSubstitution - coding silent
BAZ2AENSG00000076108ENST00000551812p.H1610Hc.4830T>CSubstitution - coding silent
NRP1ENSG00000099250ENST00000265371p.K26Rc.77A>GSubstitution - Missense
NRP1ENSG00000099250ENST00000374823p.K26Rc.77A>GSubstitution - Missense
PARD3ENSG00000148498ENST00000374789p.E700Dc.2100G>TSubstitution - Missense
NM_033667.1p.?c.1039-4G>AUnknown
ITGB1ENSG00000150093ENST00000423113p.?c.1039-4G>AUnknown
ITGB1ENSG00000150093ENST00000423113p.Y219Cc.656A>GSubstitution - Missense
NM_033667.1p.P825Pc.2475G>ASubstitution - coding silent
ARHGAP12ENSG00000165322ENST00000344936p.Y23Cc.68A>GSubstitution - Missense
PITRM1ENSG00000107959ENST00000451104p.A557Tc.1669G>ASubstitution - Missense
PFKPENSG00000067057ENST00000381075p.G463Cc.1387G>TSubstitution - Missense
UBE4BENSG00000130939ENST00000253251p.I870Vc.2608A>GSubstitution - Missense
DOCK9ENSG00000088387ENST00000376460p.L23fs*27c.61_62insCInsertion - Frameshift
GPR183ENSG00000169508ENST00000376414p.I63fs*12c.187delADeletion - Frameshift
ENST00000357329p.R1894Cc.5680C>TSubstitution - Missense
DOCK9ENSG00000088387ENST00000339416p.R1880Cc.5638C>TSubstitution - Missense
FARP1ENSG00000152767ENST00000376586p.R775Rc.2325C>TSubstitution - coding silent
SLITRK5ENSG00000165300ENST00000325089p.D602Nc.1804G>ASubstitution - Missense
COMMD6ENSG00000188243ENST00000355801p.Q67fs*16c.199_200delCADeletion - Frameshift
OAS3ENSG00000111331ENST00000228928p.R501*c.1501C>TSubstitution - Nonsense
HECTD4ENSG00000173064ENST00000377560p.H1201Hc.3603C>TSubstitution - coding silent
PPP1CCENSG00000186298ENST00000340766p.Y78Hc.232T>CSubstitution - Missense
PPP1CCENSG00000186298ENST00000335007p.Y78Hc.232T>CSubstitution - Missense
TAS2R13ENSG00000212128ENST00000390677p.I233fs*2c.697delADeletion - Frameshift
ACACBENSG00000076555ENST00000543201p.E102Dc.306G>TSubstitution - Missense
TAS2R7ENSG00000121377ENST00000240687p.F156Fc.468C>TSubstitution - coding silent
UNGENSG00000076248ENST00000242576p.?c.802-8T>CUnknown
UNGENSG00000076248ENST00000336865p.?c.775-8T>CUnknown
TMEM119ENSG00000183160ENST00000392806p.T81fs*7c.240delCDeletion - Frameshift
YBX3ENSG00000060138ENST00000228251p.R326Rc.978C>TSubstitution - coding silent
NUTM2AENSG00000184923ENST00000381707p.T353Ac.1057A>GSubstitution - Missense
WAPALENSG00000062650ENST00000298767p.R479fs*3c.1435_1436insAInsertion - Frameshift
WAPALENSG00000062650ENST00000298767p.N270fs*8c.804_805insAInsertion - Frameshift
NRG3ENSG00000185737ENST00000372142p.K364fs*22c.1088delADeletion - Frameshift
ENST00000372160p.?c.193-3C>AUnknown
NRG3ENSG00000185737ENST00000372141p.K561fs*22c.1679delADeletion - Frameshift
KCNMA1ENSG00000156113ENST00000404857p.Y676fs*7c.2019_2020insTInsertion - Frameshift
KCNMA1ENSG00000156113ENST00000406533p.Y680fs*7c.2031_2032insTInsertion - Frameshift
ITIH5ENSG00000123243ENST00000256861p.L7Lc.21G>ASubstitution - coding silent
ITIH5ENSG00000123243ENST00000397145p.L7Lc.21G>ASubstitution - coding silent
KAT6BENSG00000156650ENST00000287239p.E1104_N1105insEc.3288_3289insGAAInsertion - In frame
KAT6BENSG00000156650ENST00000287239p.E1328Ec.3984A>GSubstitution - coding silent
USP54ENSG00000166348ENST00000408019p.E794Kc.2380G>ASubstitution - Missense
ZBTB40ENSG00000184677ENST00000404138p.T32Ac.94A>GSubstitution - Missense
SNAP47ENSG00000143740ENST00000366759p.A157Tc.469G>ASubstitution - Missense
PRSS38ENSG00000185888ENST00000366757p.I60fs*56c.175delADeletion - Frameshift
CDC42BPAENSG00000143776ENST00000366769p.R1613Rc.4839C>TSubstitution - coding silent
ACBD3ENSG00000182827ENST00000366812p.Y415Hc.1243T>CSubstitution - Missense
DEGS1ENSG00000143753ENST00000391877p.Y74Cc.221A>GSubstitution - Missense
FAM177BENSG00000197520ENST00000360827p.E120Ec.360A>GSubstitution - coding silent
EPRSENSG00000136628ENST00000366923p.D12Nc.34G>ASubstitution - Missense
SPATA17ENSG00000162814ENST00000366933p.?c.1006-2A>GUnknown
SYT15ENSG00000204176ENST00000374321p.D211Dc.633C>TSubstitution - coding silent
SYT15ENSG00000204176ENST00000374325p.D211Dc.633C>TSubstitution - coding silent
SYT15ENSG00000204176ENST00000374325p.D263Dc.789C>TSubstitution - coding silent
OR13A1ENSG00000256574ENST00000553795p.L319Fc.955C>TSubstitution - Missense
ZNF33BENSG00000196693ENST00000359467p.N388Nc.1164T>CSubstitution - coding silent
FZD8ENSG00000177283ENST00000374694p.V538Mc.1612G>ASubstitution - Missense
CREMENSG00000095794ENST00000337656p.R89Mc.266G>TSubstitution - Missense
CREMENSG00000095794ENST00000361599p.R59Mc.176G>TSubstitution - Missense
CREMENSG00000095794ENST00000395887p.R59Mc.176G>TSubstitution - Missense
AMBRA1ENSG00000110497ENST00000458649p.?c.2522-8C>TUnknown
GYLTL1BENSG00000165905ENST00000325468p.H159Yc.475C>TSubstitution - Missense
EXT2ENSG00000151348ENST00000358681p.A640Vc.1919C>TSubstitution - Missense
HSD17B12ENSG00000149084ENST00000278353p.E101Ac.302A>CSubstitution - Missense
ALKBH3ENSG00000166199ENST00000302708p.R64Cc.190C>TSubstitution - Missense
ALKBH3ENSG00000166199ENST00000302708p.W286Rc.856T>CSubstitution - Missense
B4GALNT4ENSG00000182272ENST00000329962p.C914Cc.2742C>TSubstitution - coding silent
ENST00000355500p.P118Sc.352C>TSubstitution - Missense
NFRKBENSG00000170322ENST00000524794p.T931Tc.2793G>ASubstitution - coding silent
ETS1ENSG00000134954ENST00000392668p.?c.69+1G>AUnknown
MUC5BENSG00000117983ENST00000529681p.Q5220*c.15658C>TSubstitution - Nonsense
ENST00000349637p.Q5175*c.15523C>TSubstitution - Nonsense
MUC5BENSG00000117983ENST00000529681p.T3542Tc.10626A>GSubstitution - coding silent
ENST00000349637p.T3521Tc.10563A>GSubstitution - coding silent
KIRREL3ENSG00000149571ENST00000525704p.?c.1354-6G>CUnknown
ENST00000278934p.?c.1231-6G>CUnknown
CDONENSG00000064309ENST00000263577p.N908Nc.2724T>CSubstitution - coding silent
PARVAENSG00000197702ENST00000334956p.?c.723+7A>GUnknown
STT3AENSG00000134910ENST00000392708p.V262Ac.785T>CSubstitution - Missense
ROBO4ENSG00000154133ENST00000306534p.D201Dc.603C>TSubstitution - coding silent
OR8B8ENSG00000197125ENST00000328064p.C141Sc.421T>ASubstitution - Missense
SCN3BENSG00000166257ENST00000299333p.Q192Rc.575A>GSubstitution - Missense
MICAL2ENSG00000133816ENST00000379612p.A950Tc.2848G>ASubstitution - Missense
SLIT1ENSG00000187122ENST00000266058p.G320Sc.958G>ASubstitution - Missense
ENST00000419934p.A248Tc.742G>ASubstitution - Missense
CCNJENSG00000107443ENST00000265992p.A237Tc.709G>ASubstitution - Missense
CYP2C9ENSG00000138109ENST00000260682p.T130Tc.390G>ASubstitution - coding silent
PLCE1ENSG00000138193ENST00000371375p.E190*c.568G>TSubstitution - Nonsense
CYP26A1ENSG00000095596ENST00000371531p.E427fs*>3c.1279_1280insGInsertion - Frameshift
MINPP1ENSG00000107789ENST00000371996p.R433Qc.1298G>ASubstitution - Missense
PAPSS2ENSG00000198682ENST00000361175p.P482Pc.1446G>ASubstitution - coding silent
MON2ENSG00000061987ENST00000393632p.S968Sc.2904A>GSubstitution - coding silent
FAM19A2ENSG00000198673ENST00000416284p.?c.385-8C>AUnknown
VWFENSG00000110799ENST00000261405p.P1824Pc.5472T>CSubstitution - coding silent
MBD6ENSG00000166987ENST00000355673p.F399Lc.1195T>CSubstitution - Missense
GLI1ENSG00000111087ENST00000228682p.T827Ic.2480C>TSubstitution - Missense
SHMT2ENSG00000182199ENST00000328923p.E58fs*35c.170delGDeletion - Frameshift
STAT6ENSG00000166888ENST00000300134p.L551Rc.1652T>GSubstitution - Missense
PYHIN1ENSG00000163564ENST00000392254p.Q397Rc.1190A>GSubstitution - Missense
ENST00000368148p.F1351Fc.4053C>TSubstitution - coding silent
OR10K2ENSG00000180708ENST00000314902p.L144Pc.431T>CSubstitution - Missense
KIRRELENSG00000183853ENST00000392272p.Q587Qc.1761G>ASubstitution - coding silent
CD1AENSG00000158477ENST00000289429p.S129Sc.387C>TSubstitution - coding silent
KIRRELENSG00000183853ENST00000359209p.Q751Qc.2253G>ASubstitution - coding silent
CCT3ENSG00000163468ENST00000295688p.T86Ac.256A>GSubstitution - Missense
SEMA4AENSG00000196189ENST00000368285p.A728Vc.2183C>TSubstitution - Missense
LMNAENSG00000160789ENST00000368300p.L61Ic.181C>ASubstitution - Missense
OR51H1PENSG00000176904ENST00000322059p.T61Ac.181A>GSubstitution - Missense
KBTBD4ENSG00000123444ENST00000526005p.R156Rc.466C>ASubstitution - coding silent
FAM180BENSG00000196666ENST00000356737p.M24Tc.71T>CSubstitution - Missense
FAM180BENSG00000196666ENST00000356737p.A69Tc.205G>ASubstitution - Missense
ENST00000356737_v68p.A69Tc.205G>ASubstitution - Missense
C1QTNF4ENSG00000172247ENST00000302514p.Q67Qc.201G>ASubstitution - coding silent
C11orf49ENSG00000149179ENST00000378618p.E161Ac.482A>CSubstitution - Missense
OR51E1ENSG00000180785ENST00000396952p.P142Sc.424C>TSubstitution - Missense
CKAP5ENSG00000175216ENST00000529230p.G558Rc.1672G>ASubstitution - Missense
ZNF408ENSG00000175213ENST00000311764p.V430Ac.1289T>CSubstitution - Missense
EP400ENSG00000183495ENST00000389561p.?c.7201-4G>AUnknown
EP400ENSG00000183495ENST00000389561p.P2509fs*86c.7522delCDeletion - Frameshift
HEATR1ENSG00000119285ENST00000366582p.Q1040Qc.3120A>GSubstitution - coding silent
ACTN2ENSG00000077522ENST00000366578p.A35Sc.103G>TSubstitution - Missense
ACTN2ENSG00000077522ENST00000366578p.?c.1975-6C>TUnknown
HEATR1ENSG00000119285ENST00000366582p.S1908Sc.5724C>TSubstitution - coding silent
LYSTENSG00000143669ENST00000389793p.Y1711Hc.5131T>CSubstitution - Missense
GGPS1ENSG00000152904ENST00000282841p.Y190Hc.568T>CSubstitution - Missense
TBCEENSG00000116957ENST00000543662p.R88Hc.263G>ASubstitution - Missense
ENST00000344698_v71p.Y161Hc.481T>CSubstitution - Missense
EPHB2ENSG00000133216ENST00000374632p.M341Vc.1021A>GSubstitution - Missense
NM_017449p.M341Vc.1021A>GSubstitution - Missense
EPHB2ENSG00000133216ENST00000374632p.M90Tc.269T>CSubstitution - Missense
NM_017449p.M90Tc.269T>CSubstitution - Missense
EPHB2ENSG00000133216ENST00000374627p.M84Tc.251T>CSubstitution - Missense
C1QCENSG00000159189ENST00000374637p.S120Sc.360A>GSubstitution - coding silent
SU_OBSCN.1p.R8297Cc.24889C>TSubstitution - Missense
SU_OBSCN.1p.E7723Qc.23167G>CSubstitution - Missense
TSPAN19ENSG00000231738ENST00000532498p.I138Tc.413T>CSubstitution - Missense
SLC6A15ENSG00000072041ENST00000266682p.R640Cc.1918C>TSubstitution - Missense
PPFIA2ENSG00000139220ENST00000549396p.R114Sc.342G>CSubstitution - Missense
ACSS3ENSG00000111058ENST00000548058p.A459Vc.1376C>TSubstitution - Missense
MYF6ENSG00000111046ENST00000228641p.R135Wc.403C>TSubstitution - Missense
NAV3ENSG00000067798ENST00000397909p.V1544Ac.4631T>CSubstitution - Missense
B4GALNT3ENSG00000139044ENST00000266383p.L711Pc.2132T>CSubstitution - Missense
NCAPD2ENSG00000010292ENST00000315579p.K962Tc.2885A>CSubstitution - Missense
AVPR1AENSG00000166148ENST00000299178p.C240*c.720C>ASubstitution - Nonsense
RASGRF1ENSG00000058335ENST00000419573p.Y923Cc.2768A>GSubstitution - Missense
RASGRF1ENSG00000058335ENST00000419573p.P740Sc.2218C>TSubstitution - Missense
RASGRF1ENSG00000058335ENST00000419573p.R478fs*20c.1431_1432insGInsertion - Frameshift
ADAMTS7ENSG00000136378ENST00000388820p.G151Sc.451G>ASubstitution - Missense
KRT6BENSG00000185479ENST00000252252p.C130Yc.389G>ASubstitution - Missense
KRT6BENSG00000185479ENST00000252252p.R30Cc.88C>TSubstitution - Missense
KRT86ENSG00000170442ENST00000293525p.?c.1280-4G>AUnknown
C12orf44ENSG00000123395ENST00000336854p.T49Tc.147C>ASubstitution - coding silent
SCN8AENSG00000196876ENST00000354534p.V1900Lc.5698G>TSubstitution - Missense
ASIC1ENSG00000110881ENST00000228468p.G529Gc.1587C>TSubstitution - coding silent
NCKAP5LENSG00000167566ENST00000335999p.S628Sc.1884G>ASubstitution - coding silent
NCKAP5LENSG00000167566ENST00000335999p.S219Sc.657G>ASubstitution - coding silent
PRPF40BENSG00000110844ENST00000380281p.T74Tc.222C>TSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.A221fs*40c.661delGDeletion - Frameshift
KMT2DENSG00000167548ENST00000301067p.E749Gc.2246A>GSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.P2841Lc.8522C>TSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.P2571Lc.7712C>TSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.S2262fs*123c.6778_6779insCInsertion - Frameshift
ENST00000313194p.Q635*c.1903C>TSubstitution - Nonsense
KCNA6ENSG00000151079ENST00000280684p.G203Sc.607G>ASubstitution - Missense
ANP32DENSG00000139223ENST00000266594p.L103Ic.307C>ASubstitution - Missense
LALBAENSG00000167531ENST00000301046p.?c.292+2T>CUnknown
RECQLENSG00000004700ENST00000444129p.H345Rc.1034A>GSubstitution - Missense
WBP11ENSG00000084463ENST00000261167p.G285Rc.853G>ASubstitution - Missense
SMCO3ENSG00000179256ENST00000316048p.A205Ac.615C>ASubstitution - coding silent
ZNF10ENSG00000256223ENST00000248211p.Y573Cc.1718A>GSubstitution - Missense
CHFRENSG00000072609ENST00000432561p.R396Qc.1187G>ASubstitution - Missense
CHFRENSG00000072609ENST00000315585p.R237Cc.709C>TSubstitution - Missense
ANKLE2ENSG00000176915ENST00000357997p.P266Pc.798A>GSubstitution - coding silent
ANKLE2ENSG00000176915ENST00000357997p.F827fs*52c.2481delTDeletion - Frameshift
GALNT9ENSG00000182870ENST00000397325p.R33Rc.99C>TSubstitution - coding silent
GALNT9ENSG00000182870ENST00000328957p.R399Rc.1197C>TSubstitution - coding silent
GALNT9ENSG00000182870ENST00000328957p.M324Ic.972G>ASubstitution - Missense
PAOXENSG00000148832ENST00000357296p.P354Tc.1060C>ASubstitution - Missense
ENST00000368577p.D444Dc.1332C>TSubstitution - coding silent
TTC40ENSG00000171811ENST00000263170p.L830Lc.2490G>ASubstitution - coding silent
TTC40ENSG00000171811ENST00000368586p.P2405fs*5c.7214delCDeletion - Frameshift
TTC40ENSG00000171811ENST00000263170p.G186Sc.556G>ASubstitution - Missense
TTC40ENSG00000171811ENST00000368586p.G2025Sc.6073G>ASubstitution - Missense
C10orf90ENSG00000154493ENST00000284694p.H447Yc.1339C>TSubstitution - Missense
BCCIPENSG00000107949ENST00000278100p.E271delEc.806_808delAGGDeletion - In frame
FAM175BENSG00000165660ENST00000298492p.?c.778+2T>CUnknown
ENST00000368915p.D1664Dc.4992T>CSubstitution - coding silent
TENM4ENSG00000149256ENST00000278550p.E2714fs*16c.8140delGDeletion - Frameshift
USP35ENSG00000118369ENST00000529308p.S597Tc.1789T>ASubstitution - Missense
XM_290527.3p.S353Tc.1057T>ASubstitution - Missense
CYB5R2ENSG00000166394ENST00000299498p.T145fs*8c.433delADeletion - Frameshift
MYO7AENSG00000137474ENST00000409709p.A138Vc.413C>TSubstitution - Missense
C11orf30ENSG00000158636ENST00000334736p.P1016Sc.3046C>TSubstitution - Missense
NEU3ENSG00000162139ENST00000294064p.D52Nc.154G>ASubstitution - Missense
CHRDL2ENSG00000054938ENST00000263671p.S220Nc.659G>ASubstitution - Missense
C2CD3ENSG00000168014ENST00000334126p.T1062Ac.3184A>GSubstitution - Missense
PAAF1ENSG00000175575ENST00000310571p.G322Gc.966A>CSubstitution - coding silent
PLIN1ENSG00000166819ENST00000300055p.S174Ac.520T>GSubstitution - Missense
MESP1ENSG00000166823ENST00000300057p.T176Sc.526A>TSubstitution - Missense
TICRRENSG00000140534ENST00000268138p.G1005fs*4c.3008delADeletion - Frameshift
DET1ENSG00000140543ENST00000564406p.F136fs*16c.408delTDeletion - Frameshift
ADAMTSL3ENSG00000156218ENST00000286744p.T718Tc.2154C>TSubstitution - coding silent
ENST00000234505p.L598Pc.1793T>CSubstitution - Missense
FAM154BENSG00000188659ENST00000339465p.I64Tc.191T>CSubstitution - Missense
IL16ENSG00000172349ENST00000302987p.E676Kc.2026G>ASubstitution - Missense
NM_172217.1p.E630Kc.1888G>ASubstitution - Missense
MS4A6EENSG00000166926ENST00000300182p.L54Mc.160C>ASubstitution - Missense
MPEG1ENSG00000197629ENST00000361050p.M373fs*1c.1117delADeletion - Frameshift
PHRF1ENSG00000070047ENST00000416188p.A119Ac.357C>TSubstitution - coding silent
LPXNENSG00000110031ENST00000395074p.P158Pc.474G>ASubstitution - coding silent
CIDEBENSG00000136305ENST00000336557p.T26Tc.78C>ASubstitution - coding silent
TGM1ENSG00000092295ENST00000206765p.G794fs*12c.2381delGDeletion - Frameshift
LRRC16BENSG00000186648ENST00000342740p.T1134Ac.3400A>GSubstitution - Missense
ACIN1ENSG00000100813ENST00000262710p.R896Hc.2687G>ASubstitution - Missense
SALL2ENSG00000165821ENST00000327430p.G139fs*2c.416delGDeletion - Frameshift
CHD8ENSG00000100888ENST00000430710p.K164fs*23c.491delADeletion - Frameshift
SUPT16HENSG00000092201ENST00000216297p.?c.955+5G>TUnknown
HNRNPCENSG00000092199ENST00000320084p.L267Lc.799C>TSubstitution - coding silent
ENST00000382999p.D33Ec.99C>GSubstitution - Missense
OR4K17ENSG00000176230ENST00000315543p.K159fs*6c.477delGDeletion - Frameshift
OR4K5ENSG00000176281ENST00000315915p.Y132Cc.395A>GSubstitution - Missense
OR4K1ENSG00000155249ENST00000285600p.F86fs*27c.253delTDeletion - Frameshift
BTBD6ENSG00000184887ENST00000392554p.S225Pc.673T>CSubstitution - Missense
CDCA4ENSG00000170779ENST00000392590p.G150Gc.450C>TSubstitution - coding silent
AHNAK2ENSG00000185567ENST00000333244p.D983fs*9c.2948delADeletion - Frameshift
ADSSL1ENSG00000185100ENST00000332972p.?c.322-1delgUnknown
ASPGENSG00000166183ENST00000551177p.D190Dc.570C>TSubstitution - coding silent
ENST00000299234p.D218Dc.654C>TSubstitution - coding silent
PPP1R13BENSG00000088808ENST00000202556p.A895Ac.2685G>ASubstitution - coding silent
C14orf2ENSG00000156411ENST00000414262p.Y38fs*6c.112delTDeletion - Frameshift
C14orf2ENSG00000156411ENST00000286953p.Y21fs*6c.61delTDeletion - Frameshift
RCOR1ENSG00000089902ENST00000570597p.?c.849+4deltUnknown
TRAF3ENSG00000131323ENST00000560371p.T469Tc.1407G>ASubstitution - coding silent
MTG1ENSG00000148824ENST00000317502p.A330fs*2c.986_987insCInsertion - Frameshift
TUBGCP2ENSG00000130640ENST00000252936p.L324Fc.970C>TSubstitution - Missense
PAOXENSG00000148832ENST00000278060p.P354Tc.1060C>ASubstitution - Missense
NALCNENSG00000102452ENST00000251127p.L248Pc.743T>CSubstitution - Missense
NALCNENSG00000102452ENST00000376196p.L248Pc.743T>CSubstitution - Missense
NALCNENSG00000102452ENST00000251127p.A1166Vc.3497C>TSubstitution - Missense
ANKS1BENSG00000185046ENST00000549493p.R499Sc.1497G>TSubstitution - Missense
NM_018979p.F946Lc.2836T>CSubstitution - Missense
FGD6ENSG00000180263ENST00000343958p.N1391Sc.4172A>GSubstitution - Missense
NADSYN1ENSG00000172890ENST00000319023p.D187Nc.559G>ASubstitution - Missense
KRTAP5-8ENSG00000241233ENST00000398534p.R60fs*23c.172_200del29Deletion - Frameshift
KRTAP5-8ENSG00000241233ENST00000398534p.D69fs*24c.200_201insGInsertion - Frameshift
NLRP14ENSG00000158077ENST00000299481p.D865Dc.2595T>CSubstitution - coding silent
PPFIA1ENSG00000131626ENST00000253925p.L123Pc.368T>CSubstitution - Missense
ANO1ENSG00000131620ENST00000355303p.T808Tc.2424G>ASubstitution - coding silent
OR2D3ENSG00000178358ENST00000317834p.C157fs*39c.467_468delTGDeletion - Frameshift
TPCN2ENSG00000162341ENST00000294309p.E416Kc.1246G>ASubstitution - Missense
IGHMBP2ENSG00000132740ENST00000255078p.R270Hc.809G>ASubstitution - Missense
IGHMBP2ENSG00000132740ENST00000255078p.S578Sc.1734C>ASubstitution - coding silent
UNC93B1ENSG00000110057ENST00000227471p.L243Pc.728T>CSubstitution - Missense
PITPNM1ENSG00000110697ENST00000534749p.P295fs*74c.884delCDeletion - Frameshift
PITPNM1ENSG00000110697ENST00000534749p.M187fs*27c.552delGDeletion - Frameshift
CARNS1ENSG00000172508ENST00000445895p.C600Yc.1799G>ASubstitution - Missense
CARNS1ENSG00000172508ENST00000307823p.C35Yc.104G>ASubstitution - Missense
MRPL17ENSG00000158042ENST00000288937p.Q150Qc.450G>ASubstitution - coding silent
FAM160A2ENSG00000051009ENST00000265978p.P245Pc.735C>ASubstitution - coding silent
BSCL2ENSG00000168000ENST00000403550p.A9Vc.26C>TSubstitution - Missense
MTA2ENSG00000149480ENST00000278823p.R80Cc.238C>TSubstitution - Missense
SCGB1D2ENSG00000124935ENST00000244926p.G61Rc.181G>ASubstitution - Missense
CDHR5ENSG00000099834ENST00000358353p.I159Tc.476T>CSubstitution - Missense
DAGLAENSG00000134780ENST00000257215p.R796Hc.2387G>ASubstitution - Missense
DDB1ENSG00000167986ENST00000301764p.G878Rc.2632G>ASubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.M784Tc.2351T>CSubstitution - Missense
CWF19L1ENSG00000095485ENST00000354105p.?c.1472+2T>CUnknown
WNT8BENSG00000075290ENST00000343737p.R289Rc.865C>ASubstitution - coding silent
DNMBPENSG00000107554ENST00000342239p.P143Pc.429G>ASubstitution - coding silent
CHUKENSG00000213341ENST00000370397p.?c.2209-6T>GUnknown
TACC2ENSG00000138162ENST00000369005p.P179Lc.536C>TSubstitution - Missense
TACC2ENSG00000138162ENST00000369005p.E1042fs*8c.3120_3121insGInsertion - Frameshift
TACC2ENSG00000138162ENST00000453444p.E1042fs*8c.3120_3121insGInsertion - Frameshift
TIAL1ENSG00000151923ENST00000369093p.S37Gc.109A>GSubstitution - Missense
EIF3AENSG00000107581ENST00000369144p.S881Sc.2643T>CSubstitution - coding silent
ENO4ENSG00000188316ENST00000341276p.H345fs*21c.1023delADeletion - Frameshift
PNLIPENSG00000175535ENST00000369221p.?c.691+2T>CUnknown
PNLIPENSG00000175535ENST00000369221p.?c.691+2T>CUnknown
ENST00000298715p.?c.261+6T>CUnknown
ENST00000298715p.P298Tc.892C>ASubstitution - Missense
ENST00000298715p.G353Vc.1058G>TSubstitution - Missense
NRAPENSG00000197893ENST00000359988p.S782Sc.2346C>TSubstitution - coding silent
TCF7L2ENSG00000148737ENST00000543371p.P534Pc.1602G>ASubstitution - coding silent
TCF7L2ENSG00000148737ENST00000369397p.P528Pc.1584G>ASubstitution - coding silent
ZDHHC6ENSG00000023041ENST00000369405p.A38Tc.112G>ASubstitution - Missense
TCF7L2ENSG00000148737ENST00000543371p.V369Ic.1105G>ASubstitution - Missense
TCF7L2ENSG00000148737ENST00000355717p.V393Ic.1177G>ASubstitution - Missense
TECTBENSG00000119913ENST00000369422p.E43Kc.127G>ASubstitution - Missense
ENST00000310206p.T36Ac.106A>GSubstitution - Missense
MYOM3ENSG00000142661ENST00000374434p.D1098Gc.3293A>GSubstitution - Missense
PLD5ENSG00000180287ENST00000536534p.V70Ac.209T>CSubstitution - Missense
RGS7ENSG00000182901ENST00000366565p.P391Pc.1173C>TSubstitution - coding silent
RGS7ENSG00000182901ENST00000407727p.P391Pc.1173C>TSubstitution - coding silent
LYPLA2ENSG00000011009ENST00000374502p.A166fs*28c.489delCDeletion - Frameshift
FMN2ENSG00000155816ENST00000319653p.P1328Pc.3984T>CSubstitution - coding silent
ENST00000374536p.R95Qc.284G>ASubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.G1315Gc.3945C>ASubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.K4092Nc.12276G>TSubstitution - Missense
CCDC168ENSG00000175820ENST00000322527p.T2406Sc.7216A>TSubstitution - Missense
TEX30ENSG00000151287ENST00000376032p.L127Pc.380T>CSubstitution - Missense
ERCC5ENSG00000134899ENST00000355739p.?c.1954+6T>CUnknown
AKAP3ENSG00000111254ENST00000545990p.A634Tc.1900G>ASubstitution - Missense
AKAP3ENSG00000111254ENST00000228850p.A634Tc.1900G>ASubstitution - Missense
ARID2ENSG00000189079ENST00000334344p.Y1651Hc.4951T>CSubstitution - Missense
PUS7LENSG00000129317ENST00000344862p.E672Dc.2016A>CSubstitution - Missense
GXYLT1ENSG00000151233ENST00000398675p.K423Kc.1269A>GSubstitution - coding silent
KLRK1ENSG00000213809ENST00000240618p.W34*c.102G>ASubstitution - Nonsense
TXNRD1ENSG00000198431ENST00000378070p.M331Rc.992T>GSubstitution - Missense
STAB2ENSG00000136011ENST00000388887p.K507Rc.1520A>GSubstitution - Missense
SYCP3ENSG00000139351ENST00000392924p.G5fs*31c.14delGDeletion - Frameshift
MYBPC1ENSG00000196091ENST00000360610p.M736Tc.2207T>CSubstitution - Missense
UTP20ENSG00000120800ENST00000261637p.E492Kc.1474G>ASubstitution - Missense
UHRF1BP1LENSG00000111647ENST00000279907p.C647Yc.1940G>ASubstitution - Missense
AP2A2ENSG00000183020ENST00000448903p.R537Cc.1609C>TSubstitution - Missense
MAML2ENSG00000184384ENST00000524717p.A42Tc.124G>ASubstitution - Missense
COL17A1ENSG00000065618ENST00000353479p.P119Lc.356C>TSubstitution - Missense
WDR96ENSG00000197748ENST00000357060p.P346Sc.1036C>TSubstitution - Missense
CALHM1ENSG00000185933ENST00000329905p.E319Ac.956A>CSubstitution - Missense
CALHM1ENSG00000185933ENST00000329905p.R228Cc.682C>TSubstitution - Missense
NEURL1ENSG00000107954ENST00000369780p.G212Cc.634G>TSubstitution - Missense
PDCD11ENSG00000148843ENST00000369797p.?c.102+9T>CUnknown
PDCD11ENSG00000148843ENST00000369797p.S750Sc.2250A>GSubstitution - coding silent
PCGF6ENSG00000156374ENST00000337211p.P130Ac.388C>GSubstitution - Missense
PCGF6ENSG00000156374ENST00000369847p.E94Ec.282A>GSubstitution - coding silent
PCGF6ENSG00000156374ENST00000337211p.E94Ec.282A>GSubstitution - coding silent
AS3MTENSG00000214435ENST00000369880p.L328Sc.983T>CSubstitution - Missense
CNNM2ENSG00000148842ENST00000369878p.V687Ac.2060T>CSubstitution - Missense
TRIM8ENSG00000171206ENST00000302424p.T422Tc.1266G>TSubstitution - coding silent
PSDENSG00000059915ENST00000020673p.H413Hc.1239C>TSubstitution - coding silent
NM_002779.2p.H198Hc.594C>TSubstitution - coding silent
PPRC1ENSG00000148840ENST00000278070p.M1309fs*47c.3910_3911insCInsertion - Frameshift
MGEA5ENSG00000198408ENST00000361464p.I604fs*17c.1809delADeletion - Frameshift
MGEA5ENSG00000198408ENST00000370094p.I604fs*17c.1809delADeletion - Frameshift
MRPL43ENSG00000055950ENST00000318325p.Q102*c.304C>TSubstitution - Nonsense
PTPRUENSG00000060656ENST00000345512p.?c.1564-8G>AUnknown
PTPRUENSG00000060656ENST00000460170p.?c.1564-8G>AUnknown
EPB41ENSG00000159023ENST00000349460p.A293Vc.878C>TSubstitution - Missense
NM_007365.1p.M514Ic.1542G>ASubstitution - Missense
DARS2ENSG00000117593ENST00000361951p.S59Lc.176C>TSubstitution - Missense
KLHL20ENSG00000076321ENST00000209884p.R486Rc.1458A>GSubstitution - coding silent
SUCOENSG00000094975ENST00000263688p.C1059Cc.3177T>CSubstitution - coding silent
SUCOENSG00000094975ENST00000367723p.C1211Cc.3633T>CSubstitution - coding silent
PRRC2CENSG00000117523ENST00000392078p.V2881Ac.8642T>CSubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.I1233Mc.3699A>GSubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.I1233Mc.3699A>GSubstitution - Missense
METTL18ENSG00000171806ENST00000303469p.S267fs*3c.799_800insTInsertion - Frameshift
F5ENSG00000198734ENST00000367797p.T1076Ac.3226A>GSubstitution - Missense
CCDC181ENSG00000117477ENST00000367805p.Y15Yc.45C>TSubstitution - coding silent
TRPC4ENSG00000133107ENST00000379705p.C181Cc.543C>TSubstitution - coding silent
POSTNENSG00000133110ENST00000379747p.A21Tc.61G>ASubstitution - Missense
KLENSG00000133116ENST00000380099p.?c.1330+3A>GUnknown
BRCA2ENSG00000139618ENST00000380152p.R2973Hc.8918G>ASubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.A1439Ac.4317C>TSubstitution - coding silent
RXFP2ENSG00000133105ENST00000298386p.?c.94+4A>GUnknown
HSPH1ENSG00000120694ENST00000320027p.V578fs*12c.1731delADeletion - Frameshift
FLT1ENSG00000102755ENST00000282397p.V1214Ac.3641T>CSubstitution - Missense
CDK8ENSG00000132964ENST00000381527p.F346fs*14c.1034delTDeletion - Frameshift
WASF3ENSG00000132970ENST00000335327p.P307fs*29c.913_914delCCDeletion - Frameshift
WASF3ENSG00000132970ENST00000361042p.P304fs*29c.904_905delCCDeletion - Frameshift
WASF3ENSG00000132970ENST00000335327p.K456fs*>47c.1363delADeletion - Frameshift
ATP8A2ENSG00000132932ENST00000381655p.P196Pc.588T>CSubstitution - coding silent
HDAC7ENSG00000061273ENST00000080059p.S403fs*33c.1200_1201insCInsertion - Frameshift
NM_015401.1p.S364fs*33c.1083_1084insCInsertion - Frameshift
PCED1BENSG00000179715ENST00000546455p.D127Nc.379G>ASubstitution - Missense
FCGR2AENSG00000143226ENST00000367972p.R263Cc.787C>TSubstitution - Missense
NDUFS2ENSG00000158864ENST00000367993p.R118*c.352C>TSubstitution - Nonsense
NDUFS2ENSG00000158864ENST00000367993p.N147Sc.440A>GSubstitution - Missense
PVRL4ENSG00000143217ENST00000368012p.Q411Hc.1233G>TSubstitution - Missense
SLAMF1ENSG00000117090ENST00000302035p.P224Pc.672G>ASubstitution - coding silent
SLAMF7ENSG00000026751ENST00000368043p.G86*c.256G>TSubstitution - Nonsense
FAM189A1ENSG00000104059ENST00000261275p.V302Mc.904G>ASubstitution - Missense
MKRN3ENSG00000179455ENST00000314520p.S228Pc.682T>CSubstitution - Missense
SH3D21ENSG00000214193ENST00000453908p.T681Mc.2042C>TSubstitution - Missense
NCDNENSG00000020129ENST00000373253p.A592Vc.1775C>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.S321Rc.961A>CSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.S361Rc.1081A>CSubstitution - Missense
PHC2ENSG00000134686ENST00000257118p.A129Vc.386C>TSubstitution - Missense
ADCENSG00000142920ENST00000373443p.L175Pc.524T>CSubstitution - Missense
ENST00000291374p.K173Ec.517A>GSubstitution - Missense
TMEM234ENSG00000160055ENST00000309777p.A28_R34delASAGLQRc.83_103del21Deletion - In frame
TXLNAENSG00000084652ENST00000373609p.Q385Qc.1155A>GSubstitution - coding silent
KHDRBS1ENSG00000121774ENST00000327300p.S90fs*36c.262delCDeletion - Frameshift
HCRTR1ENSG00000121764ENST00000373706p.E204Ec.612A>GSubstitution - coding silent
SERINC2ENSG00000168528ENST00000373709p.T144Ac.430A>GSubstitution - Missense
SDC3ENSG00000162512ENST00000339394p.P260Pc.780C>TSubstitution - coding silent
SDC3ENSG00000162512ENST00000336798p.P202Pc.606C>TSubstitution - coding silent
FAM129AENSG00000135842ENST00000367511p.P259Sc.775C>TSubstitution - Missense
RNF2ENSG00000121481ENST00000367510p.R196Wc.586C>TSubstitution - Missense
LAMC1ENSG00000135862ENST00000258341p.Y178Cc.533A>GSubstitution - Missense
CACNA1EENSG00000198216ENST00000367573p.A487Tc.1459G>ASubstitution - Missense
IER5ENSG00000162783ENST00000367577p.P102Sc.304C>TSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.P1040Sc.3118C>TSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.P1040Sc.3118C>TSubstitution - Missense
ENSG00000258664ENST00000553856p.G107Gc.321T>CSubstitution - coding silent
ENSG00000258664ENST00000553856p.G107Gc.321T>CSubstitution - coding silent
ENST00000263528p.P990Pc.2970A>GSubstitution - coding silent
RASAL2ENSG00000075391ENST00000367649p.P1001Pc.3003A>GSubstitution - coding silent
PADI4ENSG00000159339ENST00000375448p.S62Pc.184T>CSubstitution - Missense
IGSF22ENSG00000179057ENST00000319338p.V567Lc.1699G>CSubstitution - Missense
USH1CENSG00000006611ENST00000005226p.A838Ac.2514C>TSubstitution - coding silent
USH1CENSG00000006611ENST00000318024p.A538Ac.1614C>TSubstitution - coding silent
PIK3C2AENSG00000011405ENST00000265970p.V838Ac.2513T>CSubstitution - Missense
PIK3C2AENSG00000011405ENST00000265970p.?c.1328-1G>AUnknown
KRTAP5-3ENSG00000196224ENST00000399685p.G76fs*>163c.227delGDeletion - Frameshift
SOX6ENSG00000110693ENST00000527619p.R125Cc.373C>TSubstitution - Missense
PLEKHA7ENSG00000166689ENST00000355661p.D500Gc.1499A>GSubstitution - Missense
INSCENSG00000188487ENST00000379554p.R274Cc.820C>TSubstitution - Missense
ENST00000310358p.S746Tc.2236T>ASubstitution - Missense
NCAPD3ENSG00000151503ENST00000534548p.R402Rc.1204C>ASubstitution - coding silent
JAM3ENSG00000166086ENST00000299106p.L73Pc.218T>CSubstitution - Missense
OPCMLENSG00000183715ENST00000331898p.H340Yc.1018C>TSubstitution - Missense
OPCMLENSG00000183715ENST00000524381p.H333Yc.997C>TSubstitution - Missense
OPCMLENSG00000183715ENST00000331898p.T154Ic.461C>TSubstitution - Missense
SNX19ENSG00000120451ENST00000265909p.H199Rc.596A>GSubstitution - Missense
ST14ENSG00000149418ENST00000278742p.V727Vc.2181G>ASubstitution - coding silent
EPHA2ENSG00000142627ENST00000358432p.S749Nc.2246G>ASubstitution - Missense
NUF2ENSG00000143228ENST00000271452p.H129Rc.386A>GSubstitution - Missense
SPENENSG00000065526ENST00000375759p.E1384Ec.4152A>GSubstitution - coding silent
NOS1APENSG00000198929ENST00000361897p.?c.177+6T>CUnknown
FCRLAENSG00000132185ENST00000367959p.A379Ac.1137T>CSubstitution - coding silent
CCDC153ENSG00000248712ENST00000503566p.G201fs*9c.592_593insCInsertion - Frameshift
NM_005933.1p.I3838Vc.11512A>GSubstitution - Missense
DSCAML1ENSG00000177103ENST00000321322p.G832Gc.2496C>TSubstitution - coding silent
PCSK7ENSG00000160613ENST00000320934p.H124Yc.370C>TSubstitution - Missense
CEP164ENSG00000110274ENST00000278935p.V55Ac.164T>CSubstitution - Missense
NXPE2ENSG00000204361ENST00000389586p.T492Ic.1475C>TSubstitution - Missense
TMPRSS5ENSG00000166682ENST00000299882p.G21*c.61G>TSubstitution - Nonsense
TMPRSS5ENSG00000166682ENST00000299882p.G21*c.61G>TSubstitution - Nonsense
ZW10ENSG00000086827ENST00000200135p.I252Vc.754A>GSubstitution - Missense
ANKK1ENSG00000170209ENST00000303941p.G723*c.2167G>TSubstitution - Nonsense
TMPRSS5ENSG00000166682ENST00000299882p.R387fs*23c.1159delCDeletion - Frameshift
C11orf57ENSG00000150776ENST00000280352p.P217fs*10c.648_649insAInsertion - Frameshift
GLIPR1L1ENSG00000173401ENST00000312442p.?c.610+10A>TUnknown
ENST00000290575p.S121Sc.363C>ASubstitution - coding silent
THAP2ENSG00000173451ENST00000308086p.T170Tc.510G>ASubstitution - coding silent
ZFC3H1ENSG00000133858ENST00000378743p.L969Lc.2905T>CSubstitution - coding silent
NM_002849.2p.L271Pc.812T>CSubstitution - Missense
NM_002837.2p.R992Wc.2974C>TSubstitution - Missense
CNOT2ENSG00000111596ENST00000229195p.?c.1622_1623delAAUnknown
ATN1ENSG00000111676ENST00000396684p.S559Nc.1676G>ASubstitution - Missense
USP5ENSG00000111667ENST00000229268p.M286Tc.857T>CSubstitution - Missense
USP5ENSG00000111667ENST00000389231p.M286Tc.857T>CSubstitution - Missense
CHD4ENSG00000111642ENST00000357008p.S515Sc.1545T>CSubstitution - coding silent
CHD4ENSG00000111642ENST00000309577p.S515Sc.1545T>CSubstitution - coding silent
STRIP1ENSG00000143093ENST00000369795p.Q166Qc.498G>ASubstitution - coding silent
KIAA1324ENSG00000116299ENST00000369939p.R162Wc.484C>TSubstitution - Missense
KIAA1324ENSG00000116299ENST00000369939p.A167Tc.499G>ASubstitution - Missense
ENST00000271311_v71p.I156Mc.468A>GSubstitution - Missense
AMY2BENSG00000240038ENST00000361355p.A461Vc.1382C>TSubstitution - Missense
KIAA1549LENSG00000110427ENST00000321505p.H870Hc.2610C>TSubstitution - coding silent
KIAA1549LENSG00000110427ENST00000321505p.G130Gc.390G>ASubstitution - coding silent
CARSENSG00000110619ENST00000397111p.F87Lc.259T>CSubstitution - Missense
CARSENSG00000110619ENST00000397114p.F77Lc.229T>CSubstitution - Missense
ENST00000429306p.E321Gc.962A>GSubstitution - Missense
CARSENSG00000110619ENST00000380525p.P653Pc.1959G>ASubstitution - coding silent
CARSENSG00000110619ENST00000397111p.P570Pc.1710G>ASubstitution - coding silent
NLRP6ENSG00000174885ENST00000312165p.A757fs*2c.2264delCDeletion - Frameshift
ANO3ENSG00000134343ENST00000256737p.A221Tc.661G>ASubstitution - Missense
MUC2ENSG00000198788ENST00000441003p.V2153Mc.6457G>ASubstitution - Missense
MUC2ENSG00000198788ENST00000359061p.D606Nc.1816G>ASubstitution - Missense
CUL5ENSG00000166266ENST00000393094p.?c.699+6T>CUnknown
MUC2ENSG00000198788ENST00000359061p.A115Ac.345C>ASubstitution - coding silent
ENST00000282251_v68p.E330Ac.989A>CSubstitution - Missense
GRIA4ENSG00000152578ENST00000393127p.?c.1054-2A>GUnknown
GRIA4ENSG00000152578ENST00000393125p.?c.1054-2A>GUnknown
PDGFDENSG00000170962ENST00000393158p.I214fs*68c.640delADeletion - Frameshift
PDGFDENSG00000170962ENST00000393158p.I214fs*68c.640delADeletion - Frameshift
YAP1ENSG00000137693ENST00000526343p.S227Lc.680C>TSubstitution - Missense
ENST00000375140p.G115fs*9c.334_335insCInsertion - Frameshift
DCUN1D3ENSG00000188215ENST00000324344p.E84Ec.252G>ASubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.Y3932*c.11796C>ASubstitution - Nonsense
UMODENSG00000169344ENST00000302509p.E281fs*22c.840delCDeletion - Frameshift
KNOP1ENSG00000103550ENST00000219837p.A158fs*16c.467_468insGInsertion - Frameshift
MEIOBENSG00000162039ENST00000412554p.?c.1delAUnknown
MYH11ENSG00000133392ENST00000396324p.N1906Sc.5717A>GSubstitution - Missense
KIAA0430ENSG00000166783ENST00000396368p.H511Rc.1532A>GSubstitution - Missense
CFHENSG00000000971ENST00000367429p.R53Hc.158G>ASubstitution - Missense
UBR4ENSG00000127481ENST00000375254p.H1892Rc.5675A>GSubstitution - Missense
UCHL5ENSG00000116750ENST00000367455p.A325Tc.973G>ASubstitution - Missense
UCHL5ENSG00000116750ENST00000367450p.A364Tc.1090G>ASubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.D3573Gc.10718A>GSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.R4430Hc.13289G>ASubstitution - Missense
IVNS1ABPENSG00000116679ENST00000367498p.V563Vc.1689A>GSubstitution - coding silent
BCL9ENSG00000116128ENST00000234739p.N186Nc.558T>CSubstitution - coding silent
ANKRD35ENSG00000198483ENST00000355594p.A27Ac.81A>GSubstitution - coding silent
HFE2ENSG00000168509ENST00000336751p.S155fs*91c.460delTDeletion - Frameshift
MTORENSG00000198793ENST00000361445p.L342Pc.1025T>CSubstitution - Missense
ATF7IP2ENSG00000166669ENST00000396560p.I438fs*21c.1306delADeletion - Frameshift
CHD2ENSG00000173575ENST00000394196p.Q1667Qc.5001G>ASubstitution - coding silent
NM_001271.1p.Q1667Qc.5001G>ASubstitution - coding silent
NM_001271.1p.S1087Sc.3261T>CSubstitution - coding silent
SV2BENSG00000185518ENST00000394232p.G38Cc.112G>TSubstitution - Missense
SV2BENSG00000185518ENST00000394232p.L658Ic.1972C>ASubstitution - Missense
MAN2A2ENSG00000196547ENST00000360468p.P1027Pc.3081T>CSubstitution - coding silent
TTLL13ENSG00000213471ENST00000339615p.?c.549-3T>CUnknown
C14orf166BENSG00000100565ENST00000216453p.K45fs*81c.133delADeletion - Frameshift
C14orf166BENSG00000100565ENST00000393774p.?c.1104+1G>AUnknown
TTLL5ENSG00000119685ENST00000298832p.R1170Qc.3509G>ASubstitution - Missense
NEK9ENSG00000119638ENST00000238616p.L125Lc.373C>TSubstitution - coding silent
ELMSAN1ENSG00000156030ENST00000286523p.R739Hc.2216G>ASubstitution - Missense
PTGR2ENSG00000140043ENST00000267568p.A163Ac.489C>TSubstitution - coding silent
ANKRD26ENSG00000107890ENST00000376087p.?c.242+9C>TUnknown
KIAA1217ENSG00000120549ENST00000430453p.P417fs*26c.1245delCDeletion - Frameshift
KIAA1217ENSG00000120549ENST00000376454p.V1360Mc.4078G>ASubstitution - Missense
SPAG6ENSG00000077327ENST00000376603p.V66Ac.197T>CSubstitution - Missense
MLLT10ENSG00000078403ENST00000307729p.P791Lc.2372C>TSubstitution - Missense
DNAJC1ENSG00000136770ENST00000376980p.V420fs*54c.1258delGDeletion - Frameshift
ARL5BENSG00000165997ENST00000377275p.L11Lc.33C>TSubstitution - coding silent
ST8SIA6ENSG00000148488ENST00000377602p.L287Pc.860T>CSubstitution - Missense
CUBNENSG00000107611ENST00000377833p.V2311Vc.6933T>CSubstitution - coding silent
CUBNENSG00000107611ENST00000377833p.H1891Rc.5672A>GSubstitution - Missense
FAM188AENSG00000148481ENST00000277632p.Q426*c.1276C>TSubstitution - Nonsense
FAM171A1ENSG00000148468ENST00000378116p.P604Lc.1811C>TSubstitution - Missense
C10orf54ENSG00000107738ENST00000394957p.G199Gc.597T>GSubstitution - coding silent
ENST00000398860p.N1672Nc.5016C>TSubstitution - coding silent
UNC5BENSG00000107731ENST00000335350p.T349Tc.1047A>CSubstitution - coding silent
UNC5BENSG00000107731ENST00000335350p.Y377Cc.1130A>GSubstitution - Missense
STOX1ENSG00000165730ENST00000399169p.T170Tc.510G>ASubstitution - coding silent
ENST00000265870p.I103Vc.307A>GSubstitution - Missense
MYPNENSG00000138347ENST00000358913p.H1052Hc.3156C>TSubstitution - coding silent
JMJD1CENSG00000171988ENST00000399262p.P737Pc.2211T>CSubstitution - coding silent
JMJD1CENSG00000171988ENST00000402544p.P518Pc.1554T>CSubstitution - coding silent
ARID5BENSG00000150347ENST00000279873p.R147Rc.441G>ASubstitution - coding silent
ARID5BENSG00000150347ENST00000279873p.K1043Rc.3128A>GSubstitution - Missense
ENSG00000212743ENST00000391437p.E45*c.133G>TSubstitution - Nonsense
PFKFB3ENSG00000170525ENST00000379785p.R220fs*104c.653_654insGInsertion - Frameshift
PFKFB3ENSG00000170525ENST00000379775p.I242Tc.725T>CSubstitution - Missense
PFKFB3ENSG00000170525ENST00000379785p.I242Tc.725T>CSubstitution - Missense
RHOBTB1ENSG00000072422ENST00000357917p.A286Tc.856G>ASubstitution - Missense
ANK3ENSG00000151150ENST00000280772p.T776Tc.2328G>ASubstitution - coding silent
ENST00000395293p.T437Tc.1311G>ASubstitution - coding silent
ANK3ENSG00000151150ENST00000280772p.A1785Ac.5355A>GSubstitution - coding silent
IL15RAENSG00000134470ENST00000379977p.T69Tc.207G>ASubstitution - coding silent
PCDH15ENSG00000150275ENST00000395438p.R134*c.400C>TSubstitution - Nonsense
PCDH15ENSG00000150275ENST00000414778p.R139*c.415C>TSubstitution - Nonsense
PCDH15ENSG00000150275ENST00000395438p.L1510Lc.4528C>TSubstitution - coding silent
PCDH15ENSG00000150275ENST00000361849p.A1855Vc.5564C>TSubstitution - Missense
NET1ENSG00000173848ENST00000355029p.A273Vc.818C>TSubstitution - Missense
NET1ENSG00000173848ENST00000380359p.A219Vc.656C>TSubstitution - Missense
PGBD3ENSG00000243251ENST00000374127p.C299Rc.895T>CSubstitution - Missense
ERCC6ENSG00000225830ENST00000355832p.R464Qc.1391G>ASubstitution - Missense
ERCC6ENSG00000225830ENST00000355832p.K187fs*18c.560delADeletion - Frameshift
C10orf71ENSG00000177354ENST00000323868p.?c.2075-6_2075-1delacacacUnknown
ENST00000426033p.A3158Sc.9472G>TSubstitution - Missense
GDF10ENSG00000107623ENST00000224605p.R334Wc.1000C>TSubstitution - Missense
AKR1E2ENSG00000165568ENST00000298375p.P249delPc.743_745delCTCDeletion - In frame
CACNA1HENSG00000196557ENST00000358590p.I1232Vc.3694A>GSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.I1232Vc.3694A>GSubstitution - Missense
NM_002094.1p.G35fs*15c.101_102insGInsertion - Frameshift
GSPT1ENSG00000103342ENST00000434724p.G173fs*15c.510_511insGInsertion - Frameshift
GSPT1ENSG00000103342ENST00000434724p.V454Ec.1361T>ASubstitution - Missense
CIITAENSG00000179583ENST00000324288p.G198Gc.594C>TSubstitution - coding silent
DEXIENSG00000182108ENST00000331808p.D84Gc.251A>GSubstitution - Missense
IQCDENSG00000166578ENST00000299732p.I184Vc.550A>GSubstitution - Missense
BEST4ENSG00000142959ENST00000372207p.Y362Nc.1084T>ASubstitution - Missense
KDM4AENSG00000066135ENST00000372396p.I405Tc.1214T>CSubstitution - Missense
SLC2A1ENSG00000117394ENST00000426263p.R51Cc.151C>TSubstitution - Missense
SLC2A1ENSG00000117394ENST00000415851p.R51Cc.151C>TSubstitution - Missense
ERMAPENSG00000164010ENST00000372514p.K304Rc.911A>GSubstitution - Missense
SLC2A1ENSG00000117394ENST00000426263p.R264Cc.790C>TSubstitution - Missense
ZNF684ENSG00000117010ENST00000372699p.F4Lc.10T>CSubstitution - Missense
COL9A2ENSG00000049089ENST00000372748p.V585Mc.1753G>ASubstitution - Missense
KIAA0754ENSG00000255103ENST00000530275p.P913Tc.2737C>ASubstitution - Missense
ENST00000530275_v68p.P913Tc.2737C>ASubstitution - Missense
DNALI1ENSG00000163879ENST00000296218p.R176Qc.527G>ASubstitution - Missense
CGP_EPHA10.1p.P892Sc.2674C>TSubstitution - Missense
DNHD1ENSG00000179532ENST00000254579p.G4650fs*45c.13941_13942delAGDeletion - Frameshift
SIPA1ENSG00000213445ENST00000394224p.L838Pc.2513T>CSubstitution - Missense
RELAENSG00000173039ENST00000406246p.T365Ac.1093A>GSubstitution - Missense
SNX32ENSG00000172803ENST00000308342p.T195Tc.585G>ASubstitution - coding silent
PCNXL3ENSG00000197136ENST00000355703p.K483fs*22c.1441delCDeletion - Frameshift
ENST00000309024p.K364fs*22c.1084delCDeletion - Frameshift
TIGD3ENSG00000173825ENST00000309880p.P147Pc.441T>CSubstitution - coding silent
NAALADL1ENSG00000168060ENST00000358658p.V465Vc.1395C>TSubstitution - coding silent
SF1ENSG00000168066ENST00000377390p.M242Vc.724A>GSubstitution - Missense
RPS6KA4ENSG00000162302ENST00000334205p.M204Tc.611T>CSubstitution - Missense
CCDC88BENSG00000168071ENST00000359902p.R59Qc.176G>ASubstitution - Missense
ENST00000328404_v68p.Q114Hc.342G>TSubstitution - Missense
SLC22A24ENSG00000197658ENST00000417740p.T113Tc.339G>ASubstitution - coding silent
CNGA4ENSG00000132259ENST00000379936p.M123Vc.367A>GSubstitution - Missense
ENST00000398860p.G1387Gc.4161C>TSubstitution - coding silent
ILDR2ENSG00000143195ENST00000271417p.M309Tc.926T>CSubstitution - Missense
TCHHENSG00000159450ENST00000368804p.P1924Pc.5772A>GSubstitution - coding silent
TCHHENSG00000159450ENST00000368804p.Q1386Rc.4157A>GSubstitution - Missense
POGZENSG00000143442ENST00000271715p.L1300Lc.3898C>TSubstitution - coding silent
POGZENSG00000143442ENST00000491586p.L1117Lc.3351A>GSubstitution - coding silent
ZNF687ENSG00000143373ENST00000324048p.S338Sc.1014C>ASubstitution - coding silent
PI4KBENSG00000143393ENST00000368875p.L52Lc.156A>GSubstitution - coding silent
LYSMD1ENSG00000163155ENST00000368908p.E180fs*13c.534delADeletion - Frameshift
SEMA6CENSG00000143434ENST00000341697p.G378fs*16c.1133delGDeletion - Frameshift
SV2AENSG00000159164ENST00000369146p.F718Fc.2154T>CSubstitution - coding silent
FAM231DENSG00000203815ENST00000369173p.L132Pc.395T>CSubstitution - Missense
MFN2ENSG00000116688ENST00000235329p.G681Dc.2042G>ASubstitution - Missense
ENST00000376337p.G379Dc.1136G>ASubstitution - Missense
SPAG17ENSG00000155761ENST00000336338p.R1448Qc.4343G>ASubstitution - Missense
C1orf167ENSG00000215910ENST00000433342p.Q641*c.1921C>TSubstitution - Nonsense
SYCP1ENSG00000198765ENST00000369518p.K853Qc.2557A>CSubstitution - Missense
HIPK1ENSG00000163349ENST00000369558p.Q1042Qc.3126A>GSubstitution - coding silent
NM_152696p.Q1042Qc.3126A>GSubstitution - coding silent
MLXIPENSG00000175727ENST00000319080p.A560Vc.1679C>TSubstitution - Missense
TMEM120BENSG00000188735ENST00000449592p.F304Fc.912C>TSubstitution - coding silent
OASLENSG00000135114ENST00000257570p.Q473Qc.1419G>ASubstitution - coding silent
PXNENSG00000089159ENST00000228307p.P22Hc.65C>ASubstitution - Missense
GCN1L1ENSG00000089154ENST00000300648p.I2153Mc.6459C>GSubstitution - Missense
GCN1L1ENSG00000089154ENST00000300648p.I1638Ic.4914T>CSubstitution - coding silent
CCDC60ENSG00000183273ENST00000327554p.R411Hc.1232G>ASubstitution - Missense
RNFT2ENSG00000135119ENST00000257575p.L174Lc.520C>TSubstitution - coding silent
RNFT2ENSG00000135119ENST00000257575p.L84Lc.250C>TSubstitution - coding silent
NOS1ENSG00000089250ENST00000317775p.V1252Ic.3754G>ASubstitution - Missense
TBX3ENSG00000135111ENST00000257566p.L365Ic.1093C>ASubstitution - Missense
RBM19ENSG00000122965ENST00000392561p.P676Lc.2027C>TSubstitution - Missense
SLC8B1ENSG00000089060ENST00000202831p.N71Sc.212A>GSubstitution - Missense
HEATR5AENSG00000129493ENST00000389961p.?c.2850+7A>GUnknown
ENST00000389961_v65p.I1426Ic.4278C>TSubstitution - coding silent
HECTD1ENSG00000092148ENST00000399332p.F2271fs*13c.6813delTDeletion - Frameshift
HECTD1ENSG00000092148ENST00000399332p.L1913Sc.5738T>CSubstitution - Missense
TCEANC2ENSG00000116205ENST00000234827p.N134fs*12c.397delADeletion - Frameshift
LRP8ENSG00000157193ENST00000306052p.?c.2434+2T>CUnknown
ZYG11AENSG00000203995ENST00000371528p.S342Gc.1024A>GSubstitution - Missense
ORC1ENSG00000085840ENST00000371568p.?c.1864-8C>TUnknown
TTC39AENSG00000085831ENST00000262676p.M66Tc.197T>CSubstitution - Missense
C1orf185ENSG00000204006ENST00000371759p.N114fs*5c.335_336insAInsertion - Frameshift
ENST00000371759_v68p.N114fs*5c.335_336insAInsertion - Frameshift
SPATA6ENSG00000132122ENST00000371847p.K300Tc.899A>CSubstitution - Missense
CYP4B1ENSG00000142973ENST00000271153p.E347*c.1039G>TSubstitution - Nonsense
ENST00000341288p.T162fs*10c.477_478insAInsertion - Frameshift
NASPENSG00000132780ENST00000350030p.T160fs*10c.471_472insAInsertion - Frameshift
NASPENSG00000132780ENST00000350030p.T207Tc.621T>GSubstitution - coding silent
SLC12A1ENSG00000074803ENST00000380993p.I911Vc.2731A>GSubstitution - Missense
SEMA6DENSG00000137872ENST00000316364p.V987Vc.2961T>CSubstitution - coding silent
SHFENSG00000138606ENST00000290894p.N54Kc.162C>GSubstitution - Missense
STRCENSG00000242866ENST00000450892p.P160Pc.480A>GSubstitution - coding silent
ZSCAN29ENSG00000140265ENST00000396976p.A337Tc.1009G>ASubstitution - Missense
UBR1ENSG00000159459ENST00000290650p.I484Tc.1451T>CSubstitution - Missense
CDAN1ENSG00000140326ENST00000356231p.V305Vc.915A>GSubstitution - coding silent
ZNF106ENSG00000103994ENST00000263805p.E1046fs*9c.3135delADeletion - Frameshift
PLA2G4DENSG00000159337ENST00000290472p.A54Tc.160G>ASubstitution - Missense
ENST00000358576p.T78Mc.233C>TSubstitution - Missense
XCL1ENSG00000143184ENST00000367818p.?c.62-10T>CUnknown
ADCY10ENSG00000143199ENST00000367851p.?c.1217-3T>CUnknown
CACNA1CENSG00000151067ENST00000399617p.R1027Wc.3079C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.R1077Wc.3229C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.A305Vc.914C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.A305Vc.914C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000399617p.A305Vc.914C>TSubstitution - Missense
TUBGCP5ENSG00000153575ENST00000283645p.L592Lc.1776A>GSubstitution - coding silent
LRRK1ENSG00000154237ENST00000388948p.L143Lc.429A>GSubstitution - coding silent
SU_LRRK1p.L116Lc.348A>GSubstitution - coding silent
LRRK1ENSG00000154237ENST00000284395p.?c.341+7A>GUnknown
SU_LRRK1p.L489Mc.1465C>ASubstitution - Missense
PYGLENSG00000100504ENST00000216392p.A314Ac.942C>TSubstitution - coding silent
SOS2ENSG00000100485ENST00000216373p.H1316Hc.3948C>TSubstitution - coding silent
SOS2ENSG00000100485ENST00000216373p.H1316Hc.3948C>TSubstitution - coding silent
KLHDC1ENSG00000197776ENST00000359332p.L229Lc.687A>GSubstitution - coding silent
KLHDC2ENSG00000165516ENST00000298307p.?c.773+10A>GUnknown
PNNENSG00000100941ENST00000216832p.R97Cc.289C>TSubstitution - Missense
MIPOL1ENSG00000151338ENST00000327441p.R398Qc.1193G>ASubstitution - Missense
RALGAPA1ENSG00000174373ENST00000389698p.T294Ac.880A>GSubstitution - Missense
NPAS3ENSG00000151322ENST00000356141p.S681Gc.2041A>GSubstitution - Missense
NM_152233.1p.?c.159+2T>CUnknown
AKAP6ENSG00000151320ENST00000280979p.S1471Lc.4412C>TSubstitution - Missense
ARHGAP5ENSG00000100852ENST00000345122p.L1355Lc.4063T>CSubstitution - coding silent
ENST00000389961_v65p.?c.2850+7A>GUnknown
SECISBP2LENSG00000138593ENST00000559471p.K412fs*18c.1236delADeletion - Frameshift
SECISBP2LENSG00000138593ENST00000261847p.K367fs*18c.1101delADeletion - Frameshift
CEP152ENSG00000103995ENST00000399334p.I591Ic.1773T>CSubstitution - coding silent
LEMD1ENSG00000186007ENST00000367154p.?c.205+3A>GUnknown
MDM4ENSG00000198625ENST00000367182p.A123Ac.369A>GSubstitution - coding silent
PIK3C2BENSG00000133056ENST00000367187p.A1182Tc.3544G>ASubstitution - Missense
LAX1ENSG00000122188ENST00000367217p.T309Kc.926C>ASubstitution - Missense
SOX13ENSG00000143842ENST00000367204p.A59Tc.175G>ASubstitution - Missense
ATP2B4ENSG00000058668ENST00000357681p.R607Wc.1819C>TSubstitution - Missense
XM_046751.7p.H1205Hc.3615T>CSubstitution - coding silent
KLHL12ENSG00000117153ENST00000367261p.E164Ec.492A>GSubstitution - coding silent
KDM5BENSG00000117139ENST00000367265p.L1339fs*8c.4015delCDeletion - Frameshift
RNPEPENSG00000176393ENST00000295640p.T273Tc.819A>CSubstitution - coding silent
CAMSAP2ENSG00000118200ENST00000358823p.H571Rc.1712A>GSubstitution - Missense
ARHGEF2ENSG00000116584ENST00000313695p.G449Dc.1346G>ASubstitution - Missense
ASH1LENSG00000116539ENST00000392403p.P2031Sc.6091C>TSubstitution - Missense
PKLRENSG00000143627ENST00000342741p.E427fs*13c.1276_1277insGInsertion - Frameshift
FAM189BENSG00000160767ENST00000361361p.T256Ac.766A>GSubstitution - Missense
DCST2ENSG00000163354ENST00000368424p.P771Sc.2311C>TSubstitution - Missense
DCST2ENSG00000163354ENST00000368424p.T750fs*17c.2242_2243insCInsertion - Frameshift
SHC1ENSG00000160691ENST00000368453p.T125Tc.375C>ASubstitution - coding silent
UBAP2LENSG00000143569ENST00000361546p.G711Ec.2132G>ASubstitution - Missense
UBAP2LENSG00000143569ENST00000343815p.G711Ec.2132G>ASubstitution - Missense
PGLYRP4ENSG00000163218ENST00000359650p.C246Rc.736T>CSubstitution - Missense
SPRR3ENSG00000163209ENST00000295367p.K68Nc.204G>TSubstitution - Missense
CRNNENSG00000143536ENST00000271835p.D50Nc.148G>ASubstitution - Missense
FLGENSG00000143631ENST00000368799p.E1659fs*58c.4977_4978delGADeletion - Frameshift
PKP2ENSG00000057294ENST00000070846p.R158Kc.473G>ASubstitution - Missense
PKP2ENSG00000057294ENST00000070846p.R735Qc.2204G>ASubstitution - Missense
H3F3CENSG00000188375ENST00000340398p.E59Kc.175G>ASubstitution - Missense
LOH12CR1ENSG00000165714ENST00000314565p.L16Vc.46C>GSubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.A1821Ac.5463G>ASubstitution - coding silent
DNAH10ENSG00000197653ENST00000409039p.R2487Sc.7459C>ASubstitution - Missense
CCDC62ENSG00000130783ENST00000341952p.?c.396+10A>GUnknown
HCAR2ENSG00000182782ENST00000328880p.R270Hc.809G>ASubstitution - Missense
HEPHL1ENSG00000181333ENST00000315765p.G458Gc.1374C>TSubstitution - coding silent
KIAA1731ENSG00000166004ENST00000325212p.?c.5597-10T>CUnknown
FAT3ENSG00000165323ENST00000409404p.L926fs*1c.2771delTDeletion - Frameshift
ENST00000298047_v61p.L926fs*1c.2771delTDeletion - Frameshift
ENST00000298047_v61p.I644Ic.1932T>ASubstitution - coding silent
SCUBE2ENSG00000175356ENST00000457346p.?c.1090+3A>GUnknown
TRIM49CENSG00000204449ENST00000448984p.N436Dc.1306A>GSubstitution - Missense
AKIP1ENSG00000166452ENST00000309377p.L126Lc.376C>TSubstitution - coding silent
TYRENSG00000077498ENST00000263321p.S184Sc.552A>CSubstitution - coding silent
CTSCENSG00000109861ENST00000227266p.S254Sc.762C>TSubstitution - coding silent
ME3ENSG00000151376ENST00000393324p.L150Pc.449T>CSubstitution - Missense
DLG2ENSG00000150672ENST00000280241p.R576Hc.1727G>ASubstitution - Missense
DLG2ENSG00000150672ENST00000398309p.R537Hc.1610G>ASubstitution - Missense
DLG2ENSG00000150672ENST00000418306p.R434Hc.1301G>ASubstitution - Missense
RNF111ENSG00000157450ENST00000348370p.A525Ac.1575T>CSubstitution - coding silent
ALDH1A2ENSG00000128918ENST00000249750p.R85Hc.254G>ASubstitution - Missense
TCF12ENSG00000140262ENST00000438423p.R274Hc.821G>ASubstitution - Missense
WDR72ENSG00000166415ENST00000396328p.P156fs*13c.467delCDeletion - Frameshift
MYO5AENSG00000197535ENST00000399231p.R1262Hc.3785G>ASubstitution - Missense
GLDNENSG00000186417ENST00000335449p.Q312*c.934C>TSubstitution - Nonsense
TRPM7ENSG00000092439ENST00000313478p.H382Hc.1146T>CSubstitution - coding silent
HDCENSG00000140287ENST00000267845p.?c.787+1G>AUnknown
NFIAENSG00000162599ENST00000371189p.F268fs*6c.800delTDeletion - Frameshift
NFIAENSG00000162599ENST00000485903p.F223fs*6c.665delTDeletion - Frameshift
FGGYENSG00000172456ENST00000303721p.S332Sc.996C>TSubstitution - coding silent
C1orf168ENSG00000187889ENST00000343433p.?c.757+9C>TUnknown
THEMIS2ENSG00000130775ENST00000373921p.E433delEc.1293_1295delGGADeletion - In frame
MAP3K6ENSG00000142733ENST00000374040p.H1027Hc.3081T>CSubstitution - coding silent
MAP3K6ENSG00000142733ENST00000374040p.I740Tc.2219T>CSubstitution - Missense
MAP3K6ENSG00000142733ENST00000493901p.R244Wc.730C>TSubstitution - Missense
MAP3K6ENSG00000142733ENST00000374040p.R236Wc.706C>TSubstitution - Missense
RPS6KA1ENSG00000117676ENST00000374168p.?c.2085+10C>TUnknown
MAN1C1ENSG00000117643ENST00000374332p.T484Tc.1452G>ASubstitution - coding silent
ZNF692ENSG00000171163ENST00000306601p.P472Qc.1415C>ASubstitution - Missense
PGBD2ENSG00000185220ENST00000355360p.L33Lc.99G>ASubstitution - coding silent
PGBD2ENSG00000185220ENST00000355360p.R336Gc.1006A>GSubstitution - Missense
OR2T5ENSG00000203661ENST00000366473p.A42Vc.125C>TSubstitution - Missense
OR2T4ENSG00000196944ENST00000366475p.A70Vc.209C>TSubstitution - Missense
OR2T33ENSG00000177212ENST00000318021p.A231Gc.692C>GSubstitution - Missense
OR2L13ENSG00000196071ENST00000358120p.K235fs*10c.699delADeletion - Frameshift
OR2L13ENSG00000196071ENST00000366478p.K235fs*10c.699delADeletion - Frameshift
OR2L2ENSG00000203663ENST00000366479p.I98Vc.292A>GSubstitution - Missense
NIPAL3ENSG00000001461ENST00000339255p.L349Pc.1046T>CSubstitution - Missense
OR2B11ENSG00000177535ENST00000318749p.Q274Rc.821A>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.?c.228+3A>GUnknown
PDE4DIPENSG00000178104ENST00000369348p.E87Dc.261G>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.T1684Tc.5052C>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369354p.T1684Tc.5052C>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.T1640Tc.4920C>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.Q1965*c.5893C>TSubstitution - Nonsense
PRDM2ENSG00000116731ENST00000235372p.L601fs*12c.1798_1801delTGTCDeletion - Frameshift
MXRA8ENSG00000162576ENST00000309212p.L320Vc.958C>GSubstitution - Missense
EP400ENSG00000183495ENST00000389561p.L1854Pc.5561T>CSubstitution - Missense
EP400ENSG00000183495ENST00000389561p.R1940Rc.5820T>CSubstitution - coding silent
PUS1ENSG00000177192ENST00000376649p.S420Sc.1260T>CSubstitution - coding silent
GPR133ENSG00000111452ENST00000261654p.R848Wc.2542C>TSubstitution - Missense
SFSWAPENSG00000061936ENST00000261674p.S155Sc.465C>TSubstitution - coding silent
MMP17ENSG00000198598ENST00000360564p.A338Tc.1012G>ASubstitution - Missense
ENST00000331998p.?c.106+6G>AUnknown
GPRC5DENSG00000111291ENST00000228887p.W220Cc.660G>TSubstitution - Missense
FZD10ENSG00000111432ENST00000229030p.A92Vc.275C>TSubstitution - Missense
TMEM132CENSG00000181234ENST00000435159p.T859Tc.2577G>ASubstitution - coding silent
TMEM132CENSG00000181234ENST00000315208p.T475Tc.1425G>ASubstitution - coding silent
PTPN21ENSG00000070778ENST00000328736p.K848fs*5c.2544_2545delAADeletion - Frameshift
SEL1LENSG00000071537ENST00000336735p.V715Ic.2143G>ASubstitution - Missense
CEP128ENSG00000100629ENST00000281129p.R91Wc.271C>TSubstitution - Missense
CEP128ENSG00000100629ENST00000216517p.R91Wc.271C>TSubstitution - Missense
PLEKHG3ENSG00000126822ENST00000247226p.D1069Vc.3206A>TSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.Q6685Pc.20054A>CSubstitution - Missense
SYNE2ENSG00000054654ENST00000458046p.Q319Pc.956A>CSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.Q1529Rc.4586A>GSubstitution - Missense
DAAM1ENSG00000100592ENST00000351081p.P578Pc.1734A>GSubstitution - coding silent
KIAA0586ENSG00000100578ENST00000354386p.L573Pc.1718T>CSubstitution - Missense
KIAA0586ENSG00000100578ENST00000261244p.L520Pc.1559T>CSubstitution - Missense
ARID4AENSG00000032219ENST00000355431p.N515Ic.1544A>TSubstitution - Missense
SAMD4AENSG00000020577ENST00000357634p.T316Tc.948A>GSubstitution - coding silent
WDR63ENSG00000162643ENST00000294664p.V844fs*15c.2524delADeletion - Frameshift
ELTD1ENSG00000162618ENST00000370742p.L173Lc.519A>GSubstitution - coding silent
LPHN2ENSG00000117114ENST00000359929p.C72Yc.215G>ASubstitution - Missense
ACADMENSG00000117054ENST00000370841p.R281Kc.842G>ASubstitution - Missense
RABGGTBENSG00000137955ENST00000319942p.P15Pc.45G>ASubstitution - coding silent
MSH4ENSG00000057468ENST00000263187p.S68Sc.204C>TSubstitution - coding silent
ASB17ENSG00000154007ENST00000284142p.*296*c.888A>GSubstitution - coding silent
C1orf173ENSG00000178965ENST00000326665p.D536fs*3c.1605delADeletion - Frameshift
TNNI3KENSG00000116783ENST00000326637p.?c.445-8T>CUnknown
LRRC40ENSG00000066557ENST00000370952p.N394Nc.1182T>CSubstitution - coding silent
LRRC7ENSG00000033122ENST00000035383p.Q69Qc.207A>GSubstitution - coding silent
LRRC7ENSG00000033122ENST00000370958p.Q107Qc.321A>GSubstitution - coding silent
LRRC7ENSG00000033122ENST00000035383p.?c.386+7A>GUnknown
DNAJC6ENSG00000116675ENST00000395325p.W730Rc.2188T>CSubstitution - Missense
JAK1ENSG00000162434ENST00000342505p.V938Ac.2813T>CSubstitution - Missense
PLEKHG5ENSG00000171680ENST00000377748p.R527Cc.1579C>TSubstitution - Missense
ATG4CENSG00000125703ENST00000371120p.G321Gc.963T>CSubstitution - coding silent
ATG4CENSG00000125703ENST00000317868p.G321Gc.963T>CSubstitution - coding silent
TGFBR3ENSG00000069702ENST00000212355p.P194Hc.581C>ASubstitution - Missense
HFM1ENSG00000162669ENST00000370425p.?c.1237-7T>CUnknown
PLEKHN1ENSG00000187583ENST00000379410p.R556Gc.1666A>GSubstitution - Missense
LRRC8DENSG00000171492ENST00000337338p.V147Vc.441A>TSubstitution - coding silent
GBP4ENSG00000162654ENST00000355754p.T64Ac.190A>GSubstitution - Missense
GBP5ENSG00000154451ENST00000370459p.L585Lc.1753T>CSubstitution - coding silent
LRRC49ENSG00000137821ENST00000260382p.N587Nc.1761C>TSubstitution - coding silent
GLCEENSG00000138604ENST00000261858p.R2Cc.4C>TSubstitution - Missense
FEM1BENSG00000169018ENST00000306917p.V506Vc.1518C>GSubstitution - coding silent
SKOR1ENSG00000188779ENST00000389002p.S156Sc.468G>ASubstitution - coding silent
SKOR1ENSG00000188779ENST00000341418p.S351Sc.1053G>ASubstitution - coding silent
IQCHENSG00000103599ENST00000335894p.T869Ac.2605A>GSubstitution - Missense
LCTLENSG00000188501ENST00000341509p.V543Ac.1628T>CSubstitution - Missense
LCTLENSG00000188501ENST00000341509p.Q160Qc.480G>ASubstitution - coding silent
ZWILCHENSG00000174442ENST00000307897p.D319fs*3c.954_955insAInsertion - Frameshift
MEGF11ENSG00000157890ENST00000395625p.N912fs*44c.2735delADeletion - Frameshift
IGDCC3ENSG00000174498ENST00000327987p.W75Rc.223T>CSubstitution - Missense
CILPENSG00000138615ENST00000261883p.F60Lc.178T>CSubstitution - Missense
MTFMTENSG00000103707ENST00000220058p.T276Tc.828G>ASubstitution - coding silent
CA12ENSG00000074410ENST00000178638p.A345Tc.1033G>ASubstitution - Missense
VPS13CENSG00000129003ENST00000261517p.P2738Pc.8214T>GSubstitution - coding silent
BDKRB1ENSG00000100739ENST00000216629p.G166fs*3c.492delGDeletion - Frameshift
ASB2ENSG00000100628ENST00000315988p.A72Ac.216C>ASubstitution - coding silent
BTBD7ENSG00000011114ENST00000334746p.R284Lc.851G>TSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.V2004Ic.6010G>ASubstitution - Missense
KCNK13ENSG00000152315ENST00000282146p.L291Lc.873G>ASubstitution - coding silent
EML5ENSG00000165521ENST00000554922p.H357Rc.1070A>GSubstitution - Missense
PTPN21ENSG00000070778ENST00000328736p.L624Lc.1872C>TSubstitution - coding silent
PTPN21ENSG00000070778ENST00000328736p.T1041Tc.3123C>TSubstitution - coding silent
EIF2AK4ENSG00000128829ENST00000263791p.A878Ac.2634T>CSubstitution - coding silent
SRP14ENSG00000140319ENST00000267884p.A116_P117insAc.320_321insAGCInsertion - In frame
MEIS2ENSG00000134138ENST00000561208p.A454Ac.1362A>GSubstitution - coding silent
AVENENSG00000169857ENST00000306730p.?c.974-7C>TUnknown
RYR3ENSG00000198838ENST00000389232p.G1217Sc.3649G>ASubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.R1988Gc.5962A>GSubstitution - Missense
FMN1ENSG00000248905ENST00000334528p.V606Ic.1816G>ASubstitution - Missense
ENST00000414268p.V829Ic.2485G>ASubstitution - Missense
ENST00000414268p.?c.3981-8T>CUnknown
LATS2ENSG00000150457ENST00000382592p.R817Gc.2449A>GSubstitution - Missense
XPO4ENSG00000132953ENST00000255305p.T1124Ac.3370A>GSubstitution - Missense
GAS6ENSG00000183087ENST00000357389p.M137Tc.410T>CSubstitution - Missense
TMCO3ENSG00000150403ENST00000434316p.G537Cc.1609G>TSubstitution - Missense
LAMP1ENSG00000185896ENST00000332556p.D312Gc.935A>GSubstitution - Missense
MCF2LENSG00000126217ENST00000375601p.T440Mc.1319C>TSubstitution - Missense
MCF2LENSG00000126217ENST00000375604p.T493Mc.1478C>TSubstitution - Missense
COL4A2ENSG00000134871ENST00000360467p.G926Vc.2777G>TSubstitution - Missense
COL4A1ENSG00000187498ENST00000375820p.?c.904-8G>CUnknown
TNFSF13BENSG00000102524ENST00000375887p.D44Dc.132C>TSubstitution - coding silent
WARSENSG00000140105ENST00000392882p.A7Sc.19G>TSubstitution - Missense
BEGAINENSG00000183092ENST00000355173p.S316Gc.946A>GSubstitution - Missense
ENSG00000117600ENST00000370185p.G710Gc.2130C>TSubstitution - coding silent
HHIPL1ENSG00000182218ENST00000357223p.A178Tc.532G>ASubstitution - Missense
AGRNENSG00000188157ENST00000379370p.A544Sc.1630G>TSubstitution - Missense
AGRNENSG00000188157ENST00000379370p.S918Ac.2752T>GSubstitution - Missense
ARHGAP29ENSG00000137962ENST00000260526p.S1110Nc.3329G>ASubstitution - Missense
FAM69AENSG00000154511ENST00000370310p.H330Rc.989A>GSubstitution - Missense
KIAA1107ENSG00000069712ENST00000370378p.S365fs*9c.1087delADeletion - Frameshift
GLMNENSG00000174842ENST00000370360p.T496Ic.1487C>TSubstitution - Missense
PELP1ENSG00000141456ENST00000301396p.N419Sc.1256A>GSubstitution - Missense
OSBPL7ENSG00000006025ENST00000007414p.P585fs*18c.1754delCDeletion - Frameshift
EFCAB13ENSG00000178852ENST00000331493p.I886Vc.2656A>GSubstitution - Missense
NPEPPSENSG00000141279ENST00000322157p.N645Nc.1935T>CSubstitution - coding silent
CRISPLD2ENSG00000103196ENST00000262424p.A446Vc.1337C>TSubstitution - Missense
HSD17B2ENSG00000086696ENST00000199936p.R304Qc.911G>ASubstitution - Missense
PLCG2ENSG00000197943ENST00000359376p.A180Vc.539C>TSubstitution - Missense
ENST00000389700p.V45fs*3c.129delGDeletion - Frameshift
ADAMTS18ENSG00000140873ENST00000282849p.?c.1056+8G>AUnknown
CNTNAP4ENSG00000152910ENST00000478060p.S841Sc.2523T>CSubstitution - coding silent
BCAR1ENSG00000050820ENST00000418647p.E463Ec.1389A>GSubstitution - coding silent
BCAR1ENSG00000050820ENST00000162330p.E417Ec.1251A>GSubstitution - coding silent
C7ENSG00000112936ENST00000313164p.F225fs*71c.670delTDeletion - Frameshift
C7ENSG00000112936ENST00000313164p.S349fs*41c.1045_1046insTInsertion - Frameshift
FYBENSG00000082074ENST00000351578p.P509Sc.1525C>TSubstitution - Missense
RICTORENSG00000164327ENST00000357387p.L1537Rc.4610T>GSubstitution - Missense
EGFLAMENSG00000164318ENST00000354891p.G737Gc.2211C>TSubstitution - coding silent
EGFLAMENSG00000164318ENST00000354891p.S883Sc.2649C>TSubstitution - coding silent
EGFLAMENSG00000164318ENST00000322350p.S875Sc.2625C>TSubstitution - coding silent
C5orf42ENSG00000197603ENST00000425232p.S1772Sc.5316T>CSubstitution - coding silent
C5orf42ENSG00000197603ENST00000425232p.T2415fs*19c.7243delADeletion - Frameshift
C5orf42ENSG00000197603ENST00000274258p.T1295fs*19c.3883delADeletion - Frameshift
RAD1ENSG00000113456ENST00000382038p.G116Dc.347G>ASubstitution - Missense
TYRO3ENSG00000092445ENST00000263798p.?c.2283-7A>CUnknown
NM_006293p.?c.2259-7A>CUnknown
ITPKAENSG00000137825ENST00000260386p.*462Wc.1386A>GNonstop extension
RPUSD2ENSG00000166133ENST00000315616p.C344Rc.1030T>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.?c.295+9C>TUnknown
NM_003319p.?c.295+9C>TUnknown
TTNENSG00000155657ENST00000360870p.?c.295+9C>TUnknown
TTNENSG00000155657ENST00000359218p.S964Sc.2892C>TSubstitution - coding silent
ENST00000356127p.S1010Sc.3030C>TSubstitution - coding silent
NM_003319p.S964Sc.2892C>TSubstitution - coding silent
TTNENSG00000155657ENST00000360870p.S1010Sc.3030C>TSubstitution - coding silent
TTNENSG00000155657ENST00000360870p.K3710Qc.11128A>CSubstitution - Missense
NM_003319p.P3362Lc.10085C>TSubstitution - Missense
TTNENSG00000155657ENST00000360870p.P3408Lc.10223C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.G4449Cc.13345G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.T6658Ac.19972A>GSubstitution - Missense
XRN2ENSG00000088930ENST00000377191p.V79Ac.236T>CSubstitution - Missense
FBXL12ENSG00000127452ENST00000247977p.L275Ic.823C>ASubstitution - Missense
ZNF177ENSG00000188629ENST00000434737p.R304Gc.910A>GSubstitution - Missense
ZNF177ENSG00000188629ENST00000343499p.R144Gc.430A>GSubstitution - Missense
ENST00000344049p.V53Ac.158T>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.K4437Rc.13310A>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.K4437Rc.13310A>GSubstitution - Missense
SAMD14ENSG00000167100ENST00000503131p.D308Ec.924T>GSubstitution - Missense
MINK1ENSG00000141503ENST00000347992p.K452Rc.1355A>GSubstitution - Missense
GIPENSG00000159224ENST00000357424p.M1Vc.1A>GSubstitution - Missense
HOXB6ENSG00000108511ENST00000225648p.R198Hc.593G>ASubstitution - Missense
CYP7B1ENSG00000172817ENST00000310193p.G198fs*16c.591_592insATInsertion - Frameshift
TOXENSG00000198846ENST00000361421p.H366Rc.1097A>GSubstitution - Missense
PLAG1ENSG00000181690ENST00000316981p.K184fs*45c.551delADeletion - Frameshift
PLAG1ENSG00000181690ENST00000316981p.K184fs*45c.551delADeletion - Frameshift
PCMTD1ENSG00000168300ENST00000360540p.N293Ic.878A>TSubstitution - Missense
SNAI2ENSG00000019549ENST00000020945p.R179Qc.536G>ASubstitution - Missense
FN1ENSG00000115414ENST00000354785p.T1106Tc.3318A>GSubstitution - coding silent
FN1ENSG00000115414ENST00000336916p.T1106Tc.3318A>GSubstitution - coding silent
ABCA12ENSG00000144452ENST00000272895p.A1224Vc.3671C>TSubstitution - Missense
TDRD15ENSG00000218819ENST00000405799p.P1568Pc.4704T>CSubstitution - coding silent
APOBENSG00000084674ENST00000233242p.H1866Rc.5597A>GSubstitution - Missense
ERBB4ENSG00000178568ENST00000342788p.L780Pc.2339T>CSubstitution - Missense
UNC80ENSG00000144406ENST00000439458p.R2807Mc.8420G>TSubstitution - Missense
UNC80ENSG00000144406ENST00000439458p.?c.1553-1G>AUnknown
MAP2ENSG00000078018ENST00000360351p.A641Tc.1921G>ASubstitution - Missense
DYTNENSG00000232125ENST00000452335p.?c.555+8C>TUnknown
DYTNENSG00000232125ENST00000452335p.?c.555+8C>TUnknown
SDPRENSG00000168497ENST00000304141p.G41Vc.122G>TSubstitution - Missense
MFSD6ENSG00000151690ENST00000392328p.A788Vc.2363C>TSubstitution - Missense
ASNSD1ENSG00000138381ENST00000260952p.D42Gc.125A>GSubstitution - Missense
ANKARENSG00000151687ENST00000520309p.L46Lc.136T>CSubstitution - coding silent
ENST00000344648p.K700fs*6c.2092delADeletion - Frameshift
FSIP2ENSG00000188738ENST00000343098p.N1070fs*6c.3209_3210insAInsertion - Frameshift
FSIP2ENSG00000188738ENST00000343098p.N1070fs*6c.3209_3210insAInsertion - Frameshift
NCKAP1ENSG00000061676ENST00000360982p.?c.3088+2T>CUnknown
SSFA2ENSG00000138434ENST00000431877p.V363Ac.1088T>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T11819Sc.35455A>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S14364Sc.43092C>TSubstitution - coding silent
CFDENSG00000197766ENST00000327726p.P102Pc.306C>ASubstitution - coding silent
CERS4ENSG00000090661ENST00000251363p.A105Tc.313G>ASubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.R2774Qc.8321G>ASubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.G1085Dc.3254G>ASubstitution - Missense
LRRC8EENSG00000171017ENST00000306708p.I124Ic.372T>CSubstitution - coding silent
MAP2K7ENSG00000076984ENST00000397979p.?c.124+2T>CUnknown
MAP2K7ENSG00000076984ENST00000397979p.A147Vc.440C>TSubstitution - Missense
MCOLN1ENSG00000090674ENST00000264079p.A113Vc.338C>TSubstitution - Missense
PNPLA6ENSG00000032444ENST00000414982p.P410Pc.1230C>ASubstitution - coding silent
PNPLA6ENSG00000032444ENST00000221249p.P362Pc.1086C>ASubstitution - coding silent
PNPLA6ENSG00000032444ENST00000221249p.R606Hc.1817G>ASubstitution - Missense
ENST00000361270p.L344Lc.1032A>GSubstitution - coding silent
INSRENSG00000171105ENST00000302850p.R1053Rc.3159C>TSubstitution - coding silent
INSRENSG00000171105ENST00000302850p.R1053Rc.3159C>TSubstitution - coding silent
SH2D3AENSG00000125731ENST00000245908p.G33Dc.98G>ASubstitution - Missense
GPR108ENSG00000125734ENST00000264080p.R89Wc.265C>TSubstitution - Missense
TRIP10ENSG00000125733ENST00000313285p.V374Ac.1121T>CSubstitution - Missense
TRIP10ENSG00000125733ENST00000313244p.V430Ac.1289T>CSubstitution - Missense
RFX2ENSG00000087903ENST00000303657p.V67Lc.199G>TSubstitution - Missense
GPC3ENSG00000147257ENST00000370818p.T343Tc.1029C>TSubstitution - coding silent
TLR8ENSG00000101916ENST00000218032p.R784Qc.2351G>ASubstitution - Missense
UTP14AENSG00000156697ENST00000394422p.Q764fs*>9c.2289_2290insAInsertion - Frameshift
ENST00000429478p.F1462Lc.4384T>CSubstitution - Missense
XPNPEP2ENSG00000122121ENST00000371106p.T215Tc.645T>GSubstitution - coding silent
DCAF12L1ENSG00000198889ENST00000371126p.V377Ic.1129G>ASubstitution - Missense
TENM1ENSG00000009694ENST00000371130p.T1556Ic.4667C>TSubstitution - Missense
XIAPENSG00000101966ENST00000434753p.?c.1099+7A>GUnknown
GLUD2ENSG00000182890ENST00000328078p.P43Sc.127C>TSubstitution - Missense
LAMP2ENSG00000005893ENST00000200639p.Y407Cc.1220A>GSubstitution - Missense
NKRFENSG00000186416ENST00000371527p.P17Lc.50C>TSubstitution - Missense
XM_172801.3p.A718Vc.2153C>TSubstitution - Missense
UBE2AENSG00000077721ENST00000346330p.?c.125+8T>CUnknown
KLHL13ENSG00000003096ENST00000262820p.R283Lc.848G>TSubstitution - Missense
PAK3ENSG00000077264ENST00000446737p.K243Ec.727A>GSubstitution - Missense
CAPN6ENSG00000077274ENST00000324068p.R572Rc.1716G>ASubstitution - coding silent
RGAG1ENSG00000243978ENST00000465301p.M772Ic.2316G>ASubstitution - Missense
ENST00000262211p.H278Rc.833A>GSubstitution - Missense
NM_013257p.H211Rc.632A>GSubstitution - Missense
MYBL1ENSG00000185697ENST00000522677p.Q490Rc.1469A>GSubstitution - Missense
UBE2OENSG00000175931ENST00000319380p.N1080Nc.3240C>TSubstitution - coding silent
POLR2AENSG00000181222ENST00000322644p.G843fs*22c.2523delGDeletion - Frameshift
ENST00000293218_v68p.K515Kc.1545A>GSubstitution - coding silent
UNKENSG00000132478ENST00000293218p.K439Kc.1317A>GSubstitution - coding silent
ITGB4ENSG00000132470ENST00000200181p.E532Ac.1595A>CSubstitution - Missense
ITGB4ENSG00000132470ENST00000339591p.E532Ac.1595A>CSubstitution - Missense
TRPV2ENSG00000187688ENST00000338560p.R562Cc.1684C>TSubstitution - Missense
TEKT3ENSG00000125409ENST00000395930p.R419Hc.1256G>ASubstitution - Missense
MYO1CENSG00000197879ENST00000361007p.V964Ac.2891T>CSubstitution - Missense
ACSL4ENSG00000068366ENST00000469796p.A538Tc.1612G>ASubstitution - Missense
TMEM164ENSG00000157600ENST00000372073p.Y4Hc.10T>CSubstitution - Missense
NM_032227.1p.Y4Hc.10T>CSubstitution - Missense
IRS4ENSG00000133124ENST00000372129p.P632Pc.1896A>TSubstitution - coding silent
COL4A6ENSG00000197565ENST00000334504p.I271Mc.813A>GSubstitution - Missense
COL4A6ENSG00000197565ENST00000394872p.I269Mc.807A>GSubstitution - Missense
RIPPLY1ENSG00000147223ENST00000276173p.*152Wc.455A>GNonstop extension
GPRASP2ENSG00000158301ENST00000543253p.T182Ic.545C>TSubstitution - Missense
TCEAL6ENSG00000204071ENST00000372773p.T118Ac.352A>GSubstitution - Missense
DMRT3ENSG00000064218ENST00000190165p.I437Tc.1310T>CSubstitution - Missense
PTCH1ENSG00000185920ENST00000331920p.Q1284Rc.3851A>GSubstitution - Missense
PTCH1ENSG00000185920ENST00000331920p.Q1284Rc.3851A>GSubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.Q1283Rc.3848A>GSubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.Q1283Rc.3848A>GSubstitution - Missense
C9orf3ENSG00000148120ENST00000297979p.D111Nc.331G>ASubstitution - Missense
C9orf3ENSG00000148120ENST00000375315p.D111Nc.331G>ASubstitution - Missense
ZNF169ENSG00000175787ENST00000395395p.H97fs*7c.285_286insCInsertion - Frameshift
FAM120AENSG00000048828ENST00000375389p.V448Mc.1342G>ASubstitution - Missense
FAM120AENSG00000048828ENST00000277165p.R1104Cc.3310C>TSubstitution - Missense
WNK2ENSG00000165238ENST00000427277p.R1827Hc.5480G>ASubstitution - Missense
BICD2ENSG00000185963ENST00000356884p.R214Hc.641G>ASubstitution - Missense
SHANK1ENSG00000161681ENST00000391813p.H35fs*13c.96_97insCInsertion - Frameshift
LRRC4BENSG00000131409ENST00000389201p.H358Rc.1073A>GSubstitution - Missense
PNKPENSG00000039650ENST00000322344p.P101Lc.302C>TSubstitution - Missense
MED25ENSG00000104973ENST00000312865p.P614Pc.1842G>ASubstitution - coding silent
NOSIPENSG00000142546ENST00000391853p.R92Wc.274C>TSubstitution - Missense
PRR12ENSG00000126464ENST00000418929p.C1128Cc.3384C>TSubstitution - coding silent
DOHHENSG00000129932ENST00000250937p.R32Cc.94C>TSubstitution - Missense
RUVBL2ENSG00000183207ENST00000221413p.Q404Qc.1212G>ASubstitution - coding silent
CGB5ENSG00000189052ENST00000301408p.R134fs*>32c.396delCDeletion - Frameshift
KIAA0355ENSG00000166398ENST00000299505p.I446Ic.1338C>TSubstitution - coding silent
LSM14AENSG00000257103ENST00000544216p.V136Vc.408T>CSubstitution - coding silent
TDRD12ENSG00000173809ENST00000444215p.R409Wc.1225C>TSubstitution - Missense
ANKRD27ENSG00000105186ENST00000306065p.A867Ac.2601G>ASubstitution - coding silent
ANKRD27ENSG00000105186ENST00000306065p.N841Nc.2523T>CSubstitution - coding silent
ZNF536ENSG00000198597ENST00000355537p.R981Wc.2941C>TSubstitution - Missense
DIRAS1ENSG00000176490ENST00000323469p.G183Rc.547G>ASubstitution - Missense
TMPRSS9ENSG00000178297ENST00000332578p.A703Ac.2109A>GSubstitution - coding silent
ZNF726ENSG00000213967ENST00000334589p.T95Ac.283A>GSubstitution - Missense
ENST00000452401p.A387Tc.1159G>ASubstitution - Missense
LGALS3BPENSG00000108679ENST00000262776p.G510Gc.1530C>TSubstitution - coding silent
ENST00000300671p.R2580Hc.7739G>ASubstitution - Missense
TNRC6CENSG00000078687ENST00000335749p.P1384fs*131c.4147delCDeletion - Frameshift
TNRC6CENSG00000078687ENST00000301624p.P1387fs*92c.4156delCDeletion - Frameshift
TNRC6CENSG00000078687ENST00000335749p.T3Ac.7A>GSubstitution - Missense
TNRC6CENSG00000078687ENST00000335749p.N24Sc.71A>GSubstitution - Missense
SEPT9ENSG00000184640ENST00000427177p.K291Tc.872A>CSubstitution - Missense
ENST00000329047_v70p.K273Tc.818A>CSubstitution - Missense
MGAT5BENSG00000167889ENST00000301618p.?c.1422+6C>TUnknown
EIF4A1ENSG00000161960ENST00000293831p.M121Vc.361A>GSubstitution - Missense
ST6GALNAC2ENSG00000070731ENST00000225276p.P248Ac.742C>GSubstitution - Missense
LSM14BENSG00000149657ENST00000279068p.A127Vc.380C>TSubstitution - Missense
CDH4ENSG00000179242ENST00000360469p.S95Sc.285C>TSubstitution - coding silent
CYP24A1ENSG00000019186ENST00000216862p.Y293Cc.878A>GSubstitution - Missense
SALL4ENSG00000101115ENST00000217086p.V995fs*14c.2983delGDeletion - Frameshift
HSPA12BENSG00000132622ENST00000254963p.?c.43+9C>AUnknown
RBL1ENSG00000080839ENST00000373664p.?c.2631+6T>CUnknown
ENST00000343811_v68p.?c.1865+9T>CUnknown
MROH8ENSG00000101353ENST00000400441p.?c.1785+9T>CUnknown
DLGAP4ENSG00000080845ENST00000373913p.R950Hc.2849G>ASubstitution - Missense
ENST00000344237p.G271Gc.813C>TSubstitution - coding silent
PHF20ENSG00000025293ENST00000374012p.H839Rc.2516A>GSubstitution - Missense
MYH7BENSG00000078814ENST00000262873p.K604fs*44c.1806delGDeletion - Frameshift
TRPC4APENSG00000100991ENST00000252015p.Y549Cc.1646A>GSubstitution - Missense
EIF2S2ENSG00000125977ENST00000374980p.R329Cc.985C>TSubstitution - Missense
CBFA2T2ENSG00000078699ENST00000375279p.H553fs*10c.1653delCDeletion - Frameshift
SLC4A11ENSG00000088836ENST00000380059p.L415Lc.1245G>ASubstitution - coding silent
KIR2DL3ENSG00000243772ENST00000342376p.H106Rc.317A>GSubstitution - Missense
KIR3DL3ENSG00000242019ENST00000291860p.D64Dc.192C>TSubstitution - coding silent
KIR3DX1ENSG00000104970ENST00000335056p.S181fs*5c.538delTDeletion - Frameshift
CEACAM18ENSG00000213822ENST00000451626p.L81Pc.242T>CSubstitution - Missense
CLDND2ENSG00000160318ENST00000291715p.W42Lc.125G>TSubstitution - Missense
NKG7ENSG00000105374ENST00000221978p.P123Tc.367C>ASubstitution - Missense
KLK11ENSG00000167757ENST00000319756p.Q224Rc.671A>GSubstitution - Missense
ZNF658ENSG00000196409ENST00000377626p.T750fs*65c.2248delADeletion - Frameshift
DOCK8ENSG00000107099ENST00000453981p.V789Mc.2365G>ASubstitution - Missense
PAX5ENSG00000196092ENST00000358127p.D125fs*35c.373_374insTGInsertion - Frameshift
ZCCHC7ENSG00000147905ENST00000336755p.R150*c.448C>TSubstitution - Nonsense
CCINENSG00000185972ENST00000335119p.R208Wc.622C>TSubstitution - Missense
NM_032818.1p.T57fs*65c.168delGDeletion - Frameshift
FAM214BENSG00000005238ENST00000378557p.S335fs*19c.995_996insCInsertion - Frameshift
UNC13BENSG00000198722ENST00000378495p.R260Gc.778A>GSubstitution - Missense
FAM205AENSG00000205108ENST00000378788p.H1006Hc.3018C>TSubstitution - coding silent
FAM205AENSG00000205108ENST00000378788p.H1006Hc.3018C>TSubstitution - coding silent
NFX1ENSG00000086102ENST00000379540p.A491Ac.1473T>CSubstitution - coding silent
TOPORSENSG00000197579ENST00000360538p.F110Sc.329T>CSubstitution - Missense
ACO1ENSG00000122729ENST00000309951p.N620Kc.1860T>ASubstitution - Missense
ACO1ENSG00000122729ENST00000379923p.N620Kc.1860T>ASubstitution - Missense
ACO1ENSG00000122729ENST00000309951p.R732Gc.2194A>GSubstitution - Missense
ACO1ENSG00000122729ENST00000379923p.R732Gc.2194A>GSubstitution - Missense
LINGO2ENSG00000174482ENST00000379992p.G479Rc.1435G>ASubstitution - Missense
TEKENSG00000120156ENST00000380036p.V462Ac.1385T>CSubstitution - Missense
EXOC4ENSG00000131558ENST00000253861p.N259Hc.775A>CSubstitution - Missense
LRGUKENSG00000155530ENST00000285928p.A213Ac.639G>ASubstitution - coding silent
LRGUKENSG00000155530ENST00000285928p.Q296Rc.887A>GSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.R376Qc.1127G>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.R1376Hc.4127G>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.R1376Hc.4127G>ASubstitution - Missense
PODXLENSG00000128567ENST00000378555p.?c.706+6T>CUnknown
SSMEM1ENSG00000165120ENST00000297819p.N24Sc.71A>GSubstitution - Missense
TNPO3ENSG00000064419ENST00000393245p.P900Pc.2700G>ASubstitution - coding silent
FLNCENSG00000128591ENST00000325888p.P807Pc.2421A>GSubstitution - coding silent
HILPDAENSG00000135245ENST00000257696p.M63Tc.188T>CSubstitution - Missense
ARF5ENSG00000004059ENST00000000233p.G40Vc.119G>TSubstitution - Missense
VWDEENSG00000146530ENST00000275358p.?c.1796+10T>CUnknown
LMOD2ENSG00000170807ENST00000458573p.P425Pc.1275C>TSubstitution - coding silent
SLC13A1ENSG00000081800ENST00000194130p.L513Lc.1539T>GSubstitution - coding silent
NEFMENSG00000104722ENST00000221166p.D197Nc.589G>ASubstitution - Missense
LOXL2ENSG00000134013ENST00000389131p.M575Ic.1725G>ASubstitution - Missense
CCAR2ENSG00000158941ENST00000389279p.G91Gc.273T>CSubstitution - coding silent
PIWIL2ENSG00000197181ENST00000356766p.K488Kc.1464A>GSubstitution - coding silent
SLC39A14ENSG00000104635ENST00000381237p.T58Ac.172A>GSubstitution - Missense
DMTNENSG00000158856ENST00000265800p.I47Tc.140T>CSubstitution - Missense
ATP6V1B2ENSG00000147416ENST00000276390p.G325Cc.973G>TSubstitution - Missense
ENST00000325394p.N25Dc.73A>GSubstitution - Missense
PSMD6ENSG00000163636ENST00000295901p.Q184Rc.551A>GSubstitution - Missense
PRICKLE2ENSG00000163637ENST00000295902p.N786Nc.2358C>TSubstitution - coding silent
C3orf67ENSG00000163689ENST00000295966p.S243fs*39c.727delADeletion - Frameshift
DNAH12ENSG00000174844ENST00000311202p.Y219Yc.657T>CSubstitution - coding silent
DNAH12ENSG00000174844ENST00000351747p.Y219Yc.657T>CSubstitution - coding silent
ERC2ENSG00000187672ENST00000288221p.A335Tc.1003G>ASubstitution - Missense
LRTM1ENSG00000144771ENST00000273286p.C186Cc.558C>TSubstitution - coding silent
CACNA2D3ENSG00000157445ENST00000474759p.C994Cc.2982C>TSubstitution - coding silent
CACNA1DENSG00000157388ENST00000350061p.A1948Tc.5842G>ASubstitution - Missense
ITIH1ENSG00000055957ENST00000273283p.I110Ic.330C>TSubstitution - coding silent
TRPM3ENSG00000083067ENST00000377110p.E619Gc.1856A>GSubstitution - Missense
TRPM3ENSG00000083067ENST00000377106p.E491Gc.1472A>GSubstitution - Missense
TRPM3ENSG00000083067ENST00000377105p.E478Gc.1433A>GSubstitution - Missense
TRPM3ENSG00000083067ENST00000377110p.T527Ac.1579A>GSubstitution - Missense
TRPM3ENSG00000083067ENST00000377106p.T399Ac.1195A>GSubstitution - Missense
TRPM3ENSG00000083067ENST00000377105p.T374Ac.1120A>GSubstitution - Missense
TRPM3ENSG00000083067ENST00000423814p.T529Ac.1585A>GSubstitution - Missense
KANK1ENSG00000107104ENST00000382293p.D783Gc.2348A>GSubstitution - Missense
TJP2ENSG00000119139ENST00000377245p.T849Tc.2547G>ASubstitution - coding silent
KANK1ENSG00000107104ENST00000382293p.A244Vc.731C>TSubstitution - Missense
ENST00000354485p.A402Vc.1205C>TSubstitution - Missense
KANK1ENSG00000107104ENST00000382303p.A402Vc.1205C>TSubstitution - Missense
GLDCENSG00000178445ENST00000321612p.I508Ic.1524T>CSubstitution - coding silent
CLUHENSG00000132361ENST00000435359p.I721Ic.2163C>ASubstitution - coding silent
CLUHENSG00000132361ENST00000435359p.G234Rc.700G>ASubstitution - Missense
MAPK7ENSG00000166484ENST00000308406p.A296Tc.886G>ASubstitution - Missense
BPTFENSG00000171634ENST00000306378p.T1703Ac.5107A>GSubstitution - Missense
PRKCAENSG00000154229ENST00000413366p.R598Wc.1792C>TSubstitution - Missense
CACNG5ENSG00000075429ENST00000533854p.R220Wc.658C>TSubstitution - Missense
CEP112ENSG00000154240ENST00000392769p.L148Sc.443T>CSubstitution - Missense
CEP112ENSG00000154240ENST00000535342p.L148Sc.443T>CSubstitution - Missense
PSMC5ENSG00000087191ENST00000310144p.N321fs*9c.954delADeletion - Frameshift
METTL2AENSG00000087995ENST00000311506p.R354Rc.1060C>ASubstitution - coding silent
MED13ENSG00000108510ENST00000397786p.K464Tc.1391A>CSubstitution - Missense
INTS2ENSG00000108506ENST00000444766p.S89Sc.267C>TSubstitution - coding silent
TBC1D2ENSG00000095383ENST00000375063p.V335Mc.1003G>ASubstitution - Missense
NCBP1ENSG00000136937ENST00000375147p.K41Rc.122A>GSubstitution - Missense
PLEKHF2ENSG00000175895ENST00000315367p.L231Lc.691T>CSubstitution - coding silent
KIAA1429ENSG00000164944ENST00000297591p.L1345Pc.4034T>CSubstitution - Missense
KIAA1429ENSG00000164944ENST00000297591p.H50Rc.149A>GSubstitution - Missense
KIAA1429ENSG00000164944ENST00000421249p.H50Rc.149A>GSubstitution - Missense
TMEM67ENSG00000164953ENST00000453321p.A538Tc.1612G>ASubstitution - Missense
TMEM67ENSG00000164953ENST00000453321p.E679Vc.2036A>TSubstitution - Missense
RBM12BENSG00000183808ENST00000399300p.P614Hc.1841C>ASubstitution - Missense
RIPK2ENSG00000104312ENST00000220751p.?c.1029+3_1029+16delaaaaaaaaaaaaaaUnknown
WWP1ENSG00000123124ENST00000517970p.?c.2499+2T>CUnknown
KIF13BENSG00000197892ENST00000524189p.L1249Pc.3746T>CSubstitution - Missense
PBKENSG00000168078ENST00000301905p.H58Hc.174T>CSubstitution - coding silent
ESCO2ENSG00000171320ENST00000305188p.L266Lc.798A>GSubstitution - coding silent
PTK2BENSG00000120899ENST00000397501p.E496Gc.1487A>GSubstitution - Missense
MAPRE2ENSG00000166974ENST00000300249p.I115Ic.345T>CSubstitution - coding silent
DTNAENSG00000134769ENST00000315456p.C258Cc.774C>TSubstitution - coding silent
DTNAENSG00000134769ENST00000554864p.C258Cc.774C>TSubstitution - coding silent
DTNAENSG00000134769ENST00000269190p.C258Cc.774C>TSubstitution - coding silent
LPIN2ENSG00000101577ENST00000261596p.A372Ac.1116G>ASubstitution - coding silent
DSC1ENSG00000134765ENST00000257197p.C454Yc.1361G>ASubstitution - Missense
DSC1ENSG00000134765ENST00000257198p.L874Pc.2621T>CSubstitution - Missense
PSMA8ENSG00000154611ENST00000308268p.K226Kc.678G>ASubstitution - coding silent
CABYRENSG00000154040ENST00000399496p.G250Dc.749G>ASubstitution - Missense
OSBPL1AENSG00000141447ENST00000319481p.Q319Qc.957G>ASubstitution - coding silent
LAMA3ENSG00000053747ENST00000313654p.A1189Vc.3566C>TSubstitution - Missense
ASPSCR1ENSG00000169696ENST00000580534p.R370Qc.1109G>ASubstitution - Missense
LRRC45ENSG00000169683ENST00000306688p.E309Ec.927G>ASubstitution - coding silent
SLC25A10ENSG00000183048ENST00000350690p.N140Tc.419A>CSubstitution - Missense
NPLOC4ENSG00000182446ENST00000331134p.Y447Cc.1340A>GSubstitution - Missense
ENST00000436173p.P1006Pc.3018C>GSubstitution - coding silent
RPTORENSG00000141564ENST00000306801p.T957Ac.2869A>GSubstitution - Missense
RNF213ENSG00000173821ENST00000336301p.G617Dc.1850G>ASubstitution - Missense
RNF213ENSG00000173821ENST00000319921p.E201Kc.601G>ASubstitution - Missense
CHD3ENSG00000170004ENST00000330494p.R1491Cc.4471C>TSubstitution - Missense
GAAENSG00000171298ENST00000390015p.R600Hc.1799G>ASubstitution - Missense
CBX2ENSG00000173894ENST00000310942p.L22Fc.64C>TSubstitution - Missense
CBX2ENSG00000173894ENST00000269399p.L22Fc.64C>TSubstitution - Missense
SSH2ENSG00000141298ENST00000269033p.E1277Gc.3830A>GSubstitution - Missense
GIT1ENSG00000108262ENST00000394869p.P527Sc.1579C>TSubstitution - Missense
GIT1ENSG00000108262ENST00000225394p.P518Sc.1552C>TSubstitution - Missense
SEZ6ENSG00000063015ENST00000317338p.P306fs*2c.915_916insGInsertion - Frameshift
PROCA1ENSG00000167525ENST00000301039p.I9Fc.25A>TSubstitution - Missense
SU_NEK8p.P172Pc.516T>CSubstitution - coding silent
COL6A1ENSG00000142156ENST00000361866p.V840Mc.2518G>ASubstitution - Missense
TSPEARENSG00000175894ENST00000323084p.?c.1150-10T>GUnknown
ICOSLGENSG00000160223ENST00000407780p.?c.898+1G>AUnknown
ICOSLGENSG00000160223ENST00000407780p.I259Vc.775A>GSubstitution - Missense
RRP1BENSG00000160208ENST00000340648p.A541Vc.1622C>TSubstitution - Missense
UBASH3AENSG00000160185ENST00000319294p.M569Vc.1705A>GSubstitution - Missense
C2CD2ENSG00000157617ENST00000380486p.?c.844+9C>TUnknown
RIPK4ENSG00000183421ENST00000352483p.P632Pc.1896C>TSubstitution - coding silent
NACC1ENSG00000160877ENST00000292431p.Y378Hc.1132T>CSubstitution - Missense
CALRENSG00000179218ENST00000316448p.A413Tc.1237G>ASubstitution - Missense
RAD23AENSG00000179262ENST00000316856p.T317Mc.950C>TSubstitution - Missense
MAST1ENSG00000105613ENST00000251472p.G1223Dc.3668G>ASubstitution - Missense
DNASE2ENSG00000105612ENST00000222219p.P346Pc.1038C>ASubstitution - coding silent
JUNBENSG00000171223ENST00000302754p.P103Hc.308C>ASubstitution - Missense
TNPO2ENSG00000105576ENST00000441499p.C443Rc.1327T>CSubstitution - Missense
WDR83ENSG00000123154ENST00000418543p.G37Dc.110G>ASubstitution - Missense
ZNF20ENSG00000132010ENST00000334213p.G163Gc.489T>CSubstitution - coding silent
ZNF20ENSG00000132010ENST00000334213p.G116Gc.348T>CSubstitution - coding silent
DOCK6ENSG00000130158ENST00000319867p.R527Rc.1581G>ASubstitution - coding silent
SMARCA4ENSG00000127616ENST00000429416p.R1445Wc.4333C>TSubstitution - Missense
SMARCA4ENSG00000127616ENST00000429416p.V420Ac.1259T>CSubstitution - Missense
SMARCA4ENSG00000127616ENST00000358026p.L728Lc.2184G>ASubstitution - coding silent
OR4F17ENSG00000176695ENST00000318050p.T3Tc.9T>CSubstitution - coding silent
SMARCA4ENSG00000127616ENST00000358026p.M27Ic.81G>ASubstitution - Missense
SMARCA4ENSG00000127616ENST00000429416p.M27Ic.81G>ASubstitution - Missense
CARM1ENSG00000142453ENST00000327064p.L231Pc.692T>CSubstitution - Missense
ABCA7ENSG00000064687ENST00000263094p.?c.2963-2A>GUnknown
SETBP1ENSG00000152217ENST00000282030p.L411Rc.1232T>GSubstitution - Missense
ELP2ENSG00000134759ENST00000350494p.K687fs*32c.2056delADeletion - Frameshift
TOX3ENSG00000103460ENST00000219746p.T346Tc.1038C>ASubstitution - coding silent
SALL1ENSG00000103449ENST00000251020p.A612Ac.1836C>TSubstitution - coding silent
ADCY7ENSG00000121281ENST00000394697p.S734Lc.2201C>TSubstitution - Missense
BRD7ENSG00000166164ENST00000394688p.E314fs*5c.941_942delAGDeletion - Frameshift
PAPD5ENSG00000121274ENST00000436909p.P334Hc.1001C>ASubstitution - Missense
ZNF423ENSG00000102935ENST00000262383p.V335Mc.1003G>ASubstitution - Missense
PPLENSG00000118898ENST00000345988p.L803Vc.2407T>GSubstitution - Missense
GLYR1ENSG00000140632ENST00000321919p.A478Vc.1433C>TSubstitution - Missense
AFAP1ENSG00000196526ENST00000420658p.R476Cc.1426C>TSubstitution - Missense
SCARB2ENSG00000138760ENST00000264896p.?c.1114-2A>CUnknown
NM_032217.3p.A556Tc.1666G>ASubstitution - Missense
ROBO1ENSG00000169855ENST00000495273p.R1248Wc.3742C>TSubstitution - Missense
ROBO2ENSG00000185008ENST00000461745p.V1079fs*22c.3233_3234insCInsertion - Frameshift
FAHD2BENSG00000144199ENST00000272610p.T67Mc.200C>TSubstitution - Missense
FAHD2BENSG00000144199ENST00000272610p.Q31Rc.92A>GSubstitution - Missense
NCAPHENSG00000121152ENST00000240423p.P23Pc.69C>ASubstitution - coding silent
GPAT2ENSG00000186281ENST00000359548p.S27Pc.79T>CSubstitution - Missense
FAHD2AENSG00000115042ENST00000233379p.T279Tc.837C>ASubstitution - coding silent
TEX37ENSG00000172073ENST00000303254p.R49Wc.145C>TSubstitution - Missense
KDM3AENSG00000115548ENST00000409556p.H92Rc.275A>GSubstitution - Missense
POLR1AENSG00000068654ENST00000263857p.G747Rc.2239G>ASubstitution - Missense
COL6A2ENSG00000142173ENST00000357838p.G827Sc.2479G>ASubstitution - Missense
ADRA2CENSG00000184160ENST00000330055p.T243Tc.729G>ASubstitution - coding silent
DOK7ENSG00000175920ENST00000389653p.D143Gc.428A>GSubstitution - Missense
HTTENSG00000197386ENST00000355072p.P1703Lc.5108C>TSubstitution - Missense
DYRK1AENSG00000157540ENST00000398960p.R683Hc.2048G>ASubstitution - Missense
DOPEY2ENSG00000142197ENST00000399151p.L1806Hc.5417T>ASubstitution - Missense
RUNX1ENSG00000159216ENST00000300305p.G127Dc.380G>ASubstitution - Missense
RCAN1ENSG00000159200ENST00000313806p.T93Ac.277A>GSubstitution - Missense
SONENSG00000159140ENST00000356577p.P960Pc.2880T>CSubstitution - coding silent
SONENSG00000159140ENST00000300278p.P960Pc.2880T>CSubstitution - coding silent
SYNJ1ENSG00000159082ENST00000433931p.P1311Pc.3933T>GSubstitution - coding silent
NM_003895.2p.P1272Pc.3816T>GSubstitution - coding silent
URB1ENSG00000142207ENST00000382751p.R195Rc.585G>ASubstitution - coding silent
TIAM1ENSG00000156299ENST00000286827p.M576Vc.1726A>GSubstitution - Missense
KRT32ENSG00000108759ENST00000225899p.E120Qc.358G>CSubstitution - Missense
KRT12ENSG00000187242ENST00000251643p.D185Dc.555C>TSubstitution - coding silent
SMARCE1ENSG00000073584ENST00000348513p.A308Tc.922G>ASubstitution - Missense
WIPF2ENSG00000171475ENST00000323571p.P434Hc.1301C>ASubstitution - Missense
ITGAEENSG00000083457ENST00000263087p.K89fs*7c.264delCDeletion - Frameshift
SRCIN1ENSG00000017373ENST00000264659p.R1064Hc.3191G>ASubstitution - Missense
GPR179ENSG00000188888ENST00000342292p.W1960Rc.5878T>CSubstitution - Missense
GPR179ENSG00000188888ENST00000342292p.P1661Pc.4983A>GSubstitution - coding silent
CCDC102AENSG00000135736ENST00000258214p.G528Gc.1584C>TSubstitution - coding silent
NUP93ENSG00000102900ENST00000308159p.A260Ac.780G>ASubstitution - coding silent
NUP93ENSG00000102900ENST00000308159p.K606Mc.1817A>TSubstitution - Missense
SLC12A3ENSG00000070915ENST00000438926p.L187Lc.561C>ASubstitution - coding silent
IRX6ENSG00000159387ENST00000290552p.C345Yc.1034G>ASubstitution - Missense
KIAA0319ENSG00000137261ENST00000378214p.T1039Tc.3117A>GSubstitution - coding silent
CDKAL1ENSG00000145996ENST00000378610p.H225Rc.674A>GSubstitution - Missense
DLL1ENSG00000198719ENST00000366756p.A564Tc.1690G>ASubstitution - Missense
ENST00000366809p.V1357Ac.4070T>CSubstitution - Missense
MLLT4ENSG00000130396ENST00000392108p.Y1375Hc.4123T>CSubstitution - Missense
MLLT4ENSG00000130396ENST00000366806p.Y1375Hc.4123T>CSubstitution - Missense
BAP1ENSG00000163930ENST00000460680p.G307Dc.920G>ASubstitution - Missense
ENST00000273600p.V2587Mc.7759G>ASubstitution - Missense
NM_025222.2p.G30Gc.90C>TSubstitution - coding silent
ABHD14AENSG00000248487ENST00000273596p.H239Rc.716A>GSubstitution - Missense
PARP3ENSG00000041880ENST00000398755p.T461Mc.1382C>TSubstitution - Missense
NM_020418.2p.A37Vc.110C>TSubstitution - Missense
PCBP4ENSG00000090097ENST00000461554p.A71Vc.212C>TSubstitution - Missense
IQCF1ENSG00000173389ENST00000310914p.N149Nc.447T>CSubstitution - coding silent
GRM2ENSG00000164082ENST00000395052p.W474Lc.1421G>TSubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.P1852fs*45c.5549delCDeletion - Frameshift
MAPKAPK3ENSG00000114738ENST00000446044p.L50Mc.148C>ASubstitution - Missense
RASSF1ENSG00000068028ENST00000327761p.A42Gc.125C>GSubstitution - Missense
CYB561D2ENSG00000114395ENST00000232508p.S46Sc.138C>ASubstitution - coding silent
SEMA3FENSG00000001617ENST00000002829p.V77Mc.229G>ASubstitution - Missense
MST1ENSG00000173531ENST00000449682p.H103fs*24c.308delADeletion - Frameshift
RHOAENSG00000067560ENST00000418115p.Y42Cc.125A>GSubstitution - Missense
IMPDH2ENSG00000178035ENST00000326739p.P64Pc.192A>GSubstitution - coding silent
ATP10DENSG00000145246ENST00000273859p.R1109Qc.3326G>ASubstitution - Missense
CORINENSG00000145244ENST00000273857p.D607Nc.1819G>ASubstitution - Missense
CORINENSG00000145244ENST00000273857p.L47Pc.140T>CSubstitution - Missense
ENSG00000168824ENST00000421177p.T145fs*34c.431_432delACDeletion - Frameshift
SLC30A9ENSG00000014824ENST00000264451p.I211fs*24c.625_626insAInsertion - Frameshift
RBM47ENSG00000163694ENST00000381795p.R111Rc.333C>TSubstitution - coding silent
APBB2ENSG00000163697ENST00000513140p.?c.20-3delcUnknown
RBM47ENSG00000163694ENST00000381793p.Y357Yc.1071C>TSubstitution - coding silent
RBM47ENSG00000163694ENST00000381795p.Y357Yc.1071C>TSubstitution - coding silent
RBM47ENSG00000163694ENST00000319592p.Y357Yc.1071C>TSubstitution - coding silent
RBM47ENSG00000163694ENST00000381793p.R111Rc.333C>TSubstitution - coding silent
N4BP2ENSG00000078177ENST00000261435p.D82Nc.244G>ASubstitution - Missense
N4BP2ENSG00000078177ENST00000261435p.E118Gc.353A>GSubstitution - Missense
KLHL5ENSG00000109790ENST00000504108p.Q719Hc.2157G>TSubstitution - Missense
RFC1ENSG00000035928ENST00000381897p.I795Ic.2385T>CSubstitution - coding silent
EEF1DENSG00000104529ENST00000442189p.Q78Qc.234G>ASubstitution - coding silent
ZC3H3ENSG00000014164ENST00000262577p.G101fs*102c.302delGDeletion - Frameshift
ZFP41ENSG00000181638ENST00000330701p.R125Wc.373C>TSubstitution - Missense
BUD31ENSG00000106245ENST00000222969p.N87fs*2c.256delADeletion - Frameshift
PPP1R9AENSG00000158528ENST00000433360p.G582Sc.1744G>ASubstitution - Missense
XM_374491.1p.G582Sc.1744G>ASubstitution - Missense
CCDC132ENSG00000004766ENST00000305866p.?c.351+2T>CUnknown
CCDC132ENSG00000004766ENST00000251739p.?c.351+2T>CUnknown
CCDC132ENSG00000004766ENST00000305866p.?c.702+9T>CUnknown
SAMD9LENSG00000177409ENST00000318238p.K1374Nc.4122G>TSubstitution - Missense
ERVW-1ENSG00000242950ENST00000493463p.G273Sc.817G>ASubstitution - Missense
AKAP9ENSG00000127914ENST00000356239p.N2321fs*3c.6956delADeletion - Frameshift
CDK14ENSG00000058091ENST00000265741p.L210fs*6c.622delGDeletion - Frameshift
CDK14ENSG00000058091ENST00000380050p.L228fs*6c.676delGDeletion - Frameshift
EPHB6ENSG00000106123ENST00000392957p.A253fs*71c.757_758insGInsertion - Frameshift
BRAFENSG00000157764ENST00000288602p.R506Gc.1516A>GSubstitution - Missense
BRAFENSG00000157764ENST00000288602p.S273Nc.818G>ASubstitution - Missense
KDM7AENSG00000006459ENST00000397560p.D78Gc.233A>GSubstitution - Missense
CHRM2ENSG00000181072ENST00000320658p.V168fs*79c.498_499insGInsertion - Frameshift
NUP205ENSG00000155561ENST00000285968p.L249delLc.739_741delCTCDeletion - In frame
ENST00000262563p.F744fs*3c.2231delTDeletion - Frameshift
HIST1H3EENSG00000196966ENST00000360408p.R54Hc.161G>ASubstitution - Missense
HIST1H3BENSG00000124693ENST00000244661p.H40Pc.119A>CSubstitution - Missense
FAM65BENSG00000111913ENST00000259698p.I1010Vc.3028A>GSubstitution - Missense
NM_007332.1p.S340Sc.1020T>CSubstitution - coding silent
ENST00000360191p.P233Pc.699T>CSubstitution - coding silent
ENST00000360191p.S236Gc.706A>GSubstitution - Missense
SLCO5A1ENSG00000137571ENST00000260126p.S668Pc.2002T>CSubstitution - Missense
PRDM14ENSG00000147596ENST00000276594p.C437fs*5c.1308_1309delCTDeletion - Frameshift
SULF1ENSG00000137573ENST00000260128p.?c.2551+2T>CUnknown
MICU3ENSG00000155970ENST00000318063p.L208Lc.624A>GSubstitution - coding silent
SLC7A2ENSG00000003989ENST00000494857p.A169fs*24c.504_505insTInsertion - Frameshift
MSR1ENSG00000038945ENST00000381998p.G321*c.961G>TSubstitution - Nonsense
ENST00000292562_v68p.R37Qc.110G>ASubstitution - Missense
ZNF34ENSG00000196378ENST00000343459p.R495Mc.1484G>TSubstitution - Missense
ZNF34ENSG00000196378ENST00000343459p.T330Tc.990T>CSubstitution - coding silent
NM_004260.1p.E928Ac.2783A>CSubstitution - Missense
NM_004260.1p.S256Gc.766A>GSubstitution - Missense
SLC39A4ENSG00000147804ENST00000276833p.A553Tc.1657G>ASubstitution - Missense
ADCK5ENSG00000173137ENST00000308860p.L15Pc.44T>CSubstitution - Missense
ENST00000360660p.S921Lc.2762C>TSubstitution - Missense
PLECENSG00000178209ENST00000322810p.A1415Tc.4243G>ASubstitution - Missense
PLECENSG00000178209ENST00000436759p.A1305Tc.3913G>ASubstitution - Missense
PLECENSG00000178209ENST00000345136p.A1278Tc.3832G>ASubstitution - Missense
PLECENSG00000178209ENST00000436759p.T1089Mc.3266C>TSubstitution - Missense
PLECENSG00000178209ENST00000354958p.T1040Mc.3119C>TSubstitution - Missense
PLECENSG00000178209ENST00000436759p.R4155Wc.12463C>TSubstitution - Missense
PLECENSG00000178209ENST00000354958p.R4106Wc.12316C>TSubstitution - Missense
PLECENSG00000178209ENST00000322810p.E4547Gc.13640A>GSubstitution - Missense
PLECENSG00000178209ENST00000436759p.E4437Gc.13310A>GSubstitution - Missense
PLECENSG00000178209ENST00000345136p.E4410Gc.13229A>GSubstitution - Missense
PLECENSG00000178209ENST00000354958p.E4388Gc.13163A>GSubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.S228Pc.682T>CSubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.S228Pc.682T>CSubstitution - Missense
FAM83HENSG00000180921ENST00000388913p.R174Rc.522G>TSubstitution - coding silent
SU_Erk7p.G532fs*>32c.1590delGDeletion - Frameshift
CTAGE1ENSG00000212710ENST00000391403p.L564Lc.1692G>ASubstitution - coding silent
CTAGE1ENSG00000212710ENST00000391403p.L564Lc.1692G>ASubstitution - coding silent
GREB1LENSG00000141449ENST00000424526p.M925Tc.2774T>CSubstitution - Missense
ANKRD30BENSG00000180777ENST00000358984p.Q1286*c.3856C>TSubstitution - Nonsense
ROCK1ENSG00000067900ENST00000399799p.K452Ec.1354A>GSubstitution - Missense
AFG3L2ENSG00000141385ENST00000269143p.P688Pc.2064T>CSubstitution - coding silent
PIEZO2ENSG00000154864ENST00000302079p.G2140fs*14c.6417delADeletion - Frameshift
PIK3R5ENSG00000141506ENST00000447110p.P185Sc.553C>TSubstitution - Missense
PHLPP1ENSG00000081913ENST00000262719p.?c.3324+5G>AUnknown
ENST00000262719_v68p.?c.3324+5G>AUnknown
PHLPP1ENSG00000081913ENST00000400316p.?c.1785+5G>AUnknown
NM_052947p.V27Ic.79G>ASubstitution - Missense
NM_052947p.G1324Gc.3972G>ASubstitution - coding silent
ENST00000262095p.Q275Rc.824A>GSubstitution - Missense
WDR7ENSG00000091157ENST00000254442p.V476Lc.1426G>CSubstitution - Missense
TCF4ENSG00000196628ENST00000398339p.H500Rc.1499A>GSubstitution - Missense
MYO5BENSG00000167306ENST00000285039p.Q464*c.1390C>TSubstitution - Nonsense
ST8SIA5ENSG00000101638ENST00000315087p.M1Ic.3G>ASubstitution - Missense
ZFAND1ENSG00000104231ENST00000220669p.?c.480+2T>CUnknown
ENSG00000182319ENST00000330777p.A1158Tc.3472G>ASubstitution - Missense
SU_SgK223p.A1160Tc.3478G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.G881Vc.2642G>TSubstitution - Missense
CRISPLD1ENSG00000121005ENST00000262207p.N211Kc.633C>ASubstitution - Missense
TERF1ENSG00000147601ENST00000276603p.R100Gc.298A>GSubstitution - Missense
TERF1ENSG00000147601ENST00000276602p.D282delDc.842_844delATGDeletion - In frame
TTNENSG00000155657ENST00000359218p.S19753fs*2c.59256_59257insAInsertion - Frameshift
ENST00000356127p.S26123fs*2c.78366_78367insAInsertion - Frameshift
TTNENSG00000155657ENST00000342175p.S19820fs*2c.59457_59458insAInsertion - Frameshift
TTNENSG00000155657ENST00000342992p.H28571Hc.85713C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.H22199Hc.66597C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.H22266Hc.66798C>TSubstitution - coding silent
NM_003319p.H22074Hc.66222C>TSubstitution - coding silent
OSBPL6ENSG00000079156ENST00000190611p.E623Ec.1869G>ASubstitution - coding silent
TTC30AENSG00000197557ENST00000355689p.L494Pc.1481T>CSubstitution - Missense
SCRN3ENSG00000144306ENST00000272732p.S5fs*39c.9delTDeletion - Frameshift
DLX2ENSG00000115844ENST00000234198p.N146Sc.437A>GSubstitution - Missense
CDC45ENSG00000093009ENST00000407835p.G366fs*43c.1095_1096insTInsertion - Frameshift
CLTCL1ENSG00000070371ENST00000263200p.S525Sc.1575T>CSubstitution - coding silent
MICAL3ENSG00000243156ENST00000429452p.G397Rc.1189G>ASubstitution - Missense
MICAL3ENSG00000243156ENST00000444520p.G397Rc.1189G>ASubstitution - Missense
IL17RAENSG00000177663ENST00000319363p.R218Cc.652C>TSubstitution - Missense
CECR6ENSG00000183307ENST00000331437p.G564fs*>15c.1691delGDeletion - Frameshift
CECR2ENSG00000099954ENST00000400585p.P147Lc.440C>TSubstitution - Missense
XKR3ENSG00000172967ENST00000331428p.F88fs*5c.263delTDeletion - Frameshift
POTEHENSG00000198062ENST00000343518p.E421Kc.1261G>ASubstitution - Missense
POTEHENSG00000198062ENST00000343518p.P168Lc.503C>TSubstitution - Missense
PCNTENSG00000160299ENST00000359568p.D1268Dc.3804C>TSubstitution - coding silent
ENSG00000088899ENST00000329152p.G306Gc.918C>GSubstitution - coding silent
COMMD7ENSG00000149600ENST00000278980p.F109Sc.326T>CSubstitution - Missense
PTPRAENSG00000132670ENST00000380393p.T416Tc.1248C>TSubstitution - coding silent
PTPRAENSG00000132670ENST00000358719p.T272Tc.816C>TSubstitution - coding silent
NINLENSG00000101004ENST00000278886p.A928Vc.2783C>TSubstitution - Missense
SYT5ENSG00000129990ENST00000354308p.D205Dc.615C>TSubstitution - coding silent
SYT5ENSG00000129990ENST00000354308p.S144Sc.432G>ASubstitution - coding silent
CABLES1ENSG00000134508ENST00000256925p.H620Hc.1860C>TSubstitution - coding silent
RIOK3ENSG00000101782ENST00000339486p.K502Kc.1506A>GSubstitution - coding silent
MFSD2BENSG00000205639ENST00000406420p.W336Sc.1007G>CSubstitution - Missense
MFSD2BENSG00000205639ENST00000406420p.W336Sc.1007G>CSubstitution - Missense
FARP2ENSG00000006607ENST00000264042p.H725Rc.2174A>GSubstitution - Missense
ANO7ENSG00000146205ENST00000274979p.C631Cc.1893C>TSubstitution - coding silent
ANO7ENSG00000146205ENST00000402430p.C630Cc.1890C>TSubstitution - coding silent
ANO7ENSG00000146205ENST00000274979p.P754Pc.2262G>CSubstitution - coding silent
ANO7ENSG00000146205ENST00000274979p.D835Dc.2505C>TSubstitution - coding silent
ANO7ENSG00000146205ENST00000274979p.A494Ac.1482G>ASubstitution - coding silent
ANO7ENSG00000146205ENST00000402430p.A493Ac.1479G>ASubstitution - coding silent
SNED1ENSG00000162804ENST00000310397p.V247Mc.739G>ASubstitution - Missense
KIF1AENSG00000130294ENST00000320389p.P970Pc.2910A>CSubstitution - coding silent
KIF1AENSG00000130294ENST00000498729p.S887fs*64c.2658delCDeletion - Frameshift
KIF1AENSG00000130294ENST00000320389p.M678Tc.2033T>CSubstitution - Missense
PARD3BENSG00000116117ENST00000351153p.A420Vc.1259C>TSubstitution - Missense
RAPH1ENSG00000173166ENST00000319170p.M1144Tc.3431T>CSubstitution - Missense
ENSG00000182329ENST00000541917p.S570fs*53c.1700_1701insCInsertion - Frameshift
ENST00000331807p.K249fs*2c.739delADeletion - Frameshift
ENST00000331807p.E272Ec.816G>ASubstitution - coding silent
NOP58ENSG00000055044ENST00000264279p.Y179Hc.535T>CSubstitution - Missense
ALS2ENSG00000003393ENST00000467448p.T303Tc.909T>CSubstitution - coding silent
ALS2ENSG00000003393ENST00000264276p.T303Tc.909T>CSubstitution - coding silent
ALS2CR11ENSG00000155754ENST00000439140p.I1258Mc.3774A>GSubstitution - Missense
TRAK2ENSG00000115993ENST00000332624p.R822Qc.2465G>ASubstitution - Missense
HSPE1ENSG00000115541ENST00000233893p.F91Fc.273T>CSubstitution - coding silent
HECW2ENSG00000138411ENST00000260983p.R1039Hc.3116G>ASubstitution - Missense
ENST00000356127p.Q9049Rc.27146A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.K10009Mc.30026A>TSubstitution - Missense
ENST00000356127p.K10009Mc.30026A>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.P10000Lc.29999C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.V13283Ic.39847G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.V6911Ic.20731G>ASubstitution - Missense
ENST00000356127p.V13283Ic.39847G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.V6978Ic.20932G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.K13952fs*25c.41856delADeletion - Frameshift
ENST00000356127p.K13952fs*25c.41856delADeletion - Frameshift
ANKS3ENSG00000168096ENST00000304283p.Y442Hc.1324T>CSubstitution - Missense
DNAJA3ENSG00000103423ENST00000262375p.R395Qc.1184G>ASubstitution - Missense
ADCY9ENSG00000162104ENST00000294016p.T258Tc.774C>ASubstitution - coding silent
SLX4ENSG00000188827ENST00000294008p.A1750Vc.5249C>TSubstitution - Missense
SLX4ENSG00000188827ENST00000294008p.T537Tc.1611T>CSubstitution - coding silent
ZNF200ENSG00000010539ENST00000396870p.P23Sc.67C>TSubstitution - Missense
ENST00000356559p.K58fs*18c.159_183del25Deletion - Frameshift
ZNF213ENSG00000085644ENST00000574902p.A3Tc.7G>ASubstitution - Missense
ZNF267ENSG00000185947ENST00000300870p.R116fs*66c.342delADeletion - Frameshift
FUSENSG00000089280ENST00000254108p.G256Rc.766G>ASubstitution - Missense
FUSENSG00000089280ENST00000254108p.G488Dc.1463G>ASubstitution - Missense
ZNF646ENSG00000167395ENST00000300850p.A1664Tc.4990G>ASubstitution - Missense
DPPA4ENSG00000121570ENST00000335658p.A123Vc.368C>TSubstitution - Missense
ZNF668ENSG00000167394ENST00000539836p.Q286Kc.856C>ASubstitution - Missense
MYH15ENSG00000144821ENST00000273353p.T658Mc.1973C>TSubstitution - Missense
DZIP3ENSG00000198919ENST00000361582p.R539Cc.1615C>TSubstitution - Missense
CBLBENSG00000114423ENST00000264122p.N879fs*71c.2636delADeletion - Frameshift
ATP2B2ENSG00000157087ENST00000383800p.?c.2569-8G>AUnknown
ZPLD1ENSG00000170044ENST00000306176p.S348Sc.1044T>CSubstitution - coding silent
IRAK2ENSG00000134070ENST00000256458p.R43Wc.127C>TSubstitution - Missense
IRAK2ENSG00000134070ENST00000256458p.R43Wc.127C>TSubstitution - Missense
IMPG2ENSG00000081148ENST00000193391p.Q749Rc.2246A>GSubstitution - Missense
TFGENSG00000114354ENST00000490574p.Q246Qc.738G>ASubstitution - coding silent
TOMM70AENSG00000154174ENST00000284320p.P606Sc.1816C>TSubstitution - Missense
EIF5BENSG00000158417ENST00000289371p.K99fs*11c.285_286insAInsertion - Frameshift
TSGA10ENSG00000135951ENST00000355053p.A292Vc.875C>TSubstitution - Missense
LYG2ENSG00000185674ENST00000333017p.Y36Cc.107A>GSubstitution - Missense
KIF3CENSG00000084731ENST00000264712p.R625Hc.1874G>ASubstitution - Missense
DNMT3AENSG00000119772ENST00000321117p.A121Tc.361G>ASubstitution - Missense
DNMT3AENSG00000119772ENST00000406659p.A121Tc.361G>ASubstitution - Missense
ITSN2ENSG00000198399ENST00000355123p.A1410Vc.4229C>TSubstitution - Missense
GAL3ST2ENSG00000154252ENST00000192314p.Y94Hc.280T>CSubstitution - Missense
NEU4ENSG00000204099ENST00000325935p.R278Hc.833G>ASubstitution - Missense
SLCO4A1ENSG00000101187ENST00000370507p.G635Cc.1903G>TSubstitution - Missense
GZMMENSG00000197540ENST00000264553p.?c.56-10A>GUnknown
LILRA6ENSG00000244482ENST00000396365p.R369Sc.1107A>CSubstitution - Missense
LENG1ENSG00000105617ENST00000222224p.L226Pc.677T>CSubstitution - Missense
LENG1ENSG00000105617ENST00000222224p.P141fs*>124c.422delCDeletion - Frameshift
TMC4ENSG00000167608ENST00000416963p.V124Vc.372C>TSubstitution - coding silent
CACNG6ENSG00000130433ENST00000252729p.R21Wc.61C>TSubstitution - Missense
ZNRF4ENSG00000105428ENST00000222033p.I129Mc.387A>GSubstitution - Missense
OSCARENSG00000170909ENST00000359649p.M1Tc.2T>CSubstitution - Missense
OSCARENSG00000170909ENST00000356532p.M1Tc.2T>CSubstitution - Missense
VN1R2ENSG00000196131ENST00000341702p.Q294Qc.882G>ASubstitution - coding silent
ZNF816ENSG00000180257ENST00000357666p.R520Hc.1559G>ASubstitution - Missense
ZNF534ENSG00000198633ENST00000332323p.K480Kc.1440A>GSubstitution - coding silent
ZNF841ENSG00000197608ENST00000389534p.Y793Cc.2378A>GSubstitution - Missense
ZNF841ENSG00000197608ENST00000359973p.Y369Cc.1106A>GSubstitution - Missense
ZNF614ENSG00000142556ENST00000270649p.R149Rc.445A>CSubstitution - coding silent
MYH3ENSG00000109063ENST00000226209p.?c.348+7G>AUnknown
C16orf3ENSG00000221819ENST00000408886p.C42Cc.126C>TSubstitution - coding silent
SPATA2LENSG00000158792ENST00000289805p.M138Tc.413T>CSubstitution - Missense
CBFA2T3ENSG00000129993ENST00000268679p.P318Sc.952C>TSubstitution - Missense
PIEZO1ENSG00000103335ENST00000301015p.P1438Lc.4313C>TSubstitution - Missense
CTU2ENSG00000174177ENST00000312060p.C388Yc.1163G>ASubstitution - Missense
PIEZO1ENSG00000103335ENST00000301015p.K2163Nc.6489A>CSubstitution - Missense
BANPENSG00000172530ENST00000393207p.M251Kc.752T>ASubstitution - Missense
BANPENSG00000172530ENST00000355163p.M226Kc.677T>ASubstitution - Missense
BANPENSG00000172530ENST00000355022p.M220Kc.659T>ASubstitution - Missense
EHD3ENSG00000013016ENST00000322054p.R473Cc.1417C>TSubstitution - Missense
NRBP1ENSG00000115216ENST00000233557p.L188Pc.563T>CSubstitution - Missense
SLC30A3ENSG00000115194ENST00000233535p.S38Tc.112T>ASubstitution - Missense
DEPDC5ENSG00000100150ENST00000535622p.V1118Mc.3352G>ASubstitution - Missense
SFI1ENSG00000198089ENST00000400288p.?c.3433+7A>GUnknown
INPP5JENSG00000185133ENST00000331075p.A134Dc.401C>ASubstitution - Missense
SMTNENSG00000183963ENST00000358743p.?c.373+7G>AUnknown
SMTNENSG00000183963ENST00000333137p.?c.373+7G>AUnknown
ENST00000404496p.?c.349+7G>AUnknown
CCDC157ENSG00000187860ENST00000405659p.P639Tc.1915C>ASubstitution - Missense
NEFHENSG00000100285ENST00000310624p.G489Gc.1467T>CSubstitution - coding silent
TPST2ENSG00000128294ENST00000398110p.N333fs*6c.989_990insCInsertion - Frameshift
MN1ENSG00000169184ENST00000302326p.L83fs*140c.246delGDeletion - Frameshift
NRIP1ENSG00000180530ENST00000400199p.E232Ec.696A>GSubstitution - coding silent
NM_000933.2p.V181Ac.542T>CSubstitution - Missense
MYT1ENSG00000196132ENST00000536311p.P1104Pc.3312G>ASubstitution - coding silent
MYT1ENSG00000196132ENST00000328439p.R870Hc.2609G>ASubstitution - Missense
KCNQ2ENSG00000075043ENST00000354587p.P677Pc.2031G>ASubstitution - coding silent
KCNQ2ENSG00000075043ENST00000359125p.A381fs*8c.1141delGDeletion - Frameshift
CHRNA4ENSG00000101204ENST00000370263p.R360Qc.1079G>ASubstitution - Missense
ARFGAP1ENSG00000101199ENST00000353546p.G308Sc.922G>ASubstitution - Missense
YTHDF1ENSG00000149658ENST00000370339p.V548Ec.1643T>ASubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.L1138Lc.3414C>ASubstitution - coding silent
FRAS1ENSG00000138759ENST00000325942p.L1138Lc.3414C>ASubstitution - coding silent
LEF1ENSG00000138795ENST00000379951p.D14fs*10c.40delGDeletion - Frameshift
TET2ENSG00000168769ENST00000305737p.M695Vc.2083A>GSubstitution - Missense
NFKB1ENSG00000109320ENST00000226574p.?c.2749+3delaUnknown
BANK1ENSG00000153064ENST00000322953p.?c.1969+2T>CUnknown
CMSS1ENSG00000184220ENST00000421999p.K243Ec.727A>GSubstitution - Missense
IL17REENSG00000163701ENST00000383814p.C295Rc.883T>CSubstitution - Missense
IL17REENSG00000163701ENST00000454190p.C295Rc.883T>CSubstitution - Missense
GPR15ENSG00000154165ENST00000284311p.L164Lc.490C>TSubstitution - coding silent
MINAENSG00000170854ENST00000360258p.L190Pc.569T>CSubstitution - Missense
CRYBG3ENSG00000080200ENST00000182096p.A83Vc.248C>TSubstitution - Missense
SENP5ENSG00000119231ENST00000323460p.?c.1619+10T>CUnknown
UBXN7ENSG00000163960ENST00000296328p.Y216Hc.646T>CSubstitution - Missense
SLC51AENSG00000163959ENST00000296327p.K141fs*5c.415delGDeletion - Frameshift
TNK2ENSG00000061938ENST00000381916p.Y937Sc.2810A>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2443Tc.7329A>GSubstitution - coding silent
STRNENSG00000115808ENST00000263918p.Q326Rc.977A>GSubstitution - Missense
RPS7ENSG00000171863ENST00000304921p.?c.147+4A>CUnknown
CRIM1ENSG00000150938ENST00000280527p.R314Hc.941G>ASubstitution - Missense
NM_206943.1p.D626Dc.1878T>CSubstitution - coding silent
LTBP1ENSG00000049323ENST00000407925p.D300Dc.900T>CSubstitution - coding silent
BIRC6ENSG00000115760ENST00000421745p.Y4557Hc.13669T>CSubstitution - Missense
SHROOM4ENSG00000158352ENST00000289292p.A372Vc.1115C>TSubstitution - Missense
MAGIXENSG00000017621ENST00000412696p.E270Ac.809A>CSubstitution - Missense
PQBP1ENSG00000102103ENST00000376563p.P2Lc.5C>TSubstitution - Missense
RBM3ENSG00000102317ENST00000430348p.T117Ac.349A>GSubstitution - Missense
HDAC6ENSG00000094631ENST00000334136p.L119Pc.356T>CSubstitution - Missense
UBA1ENSG00000130985ENST00000377351p.R127Wc.379C>TSubstitution - Missense
CASKENSG00000147044ENST00000378166p.V25Ac.74T>CSubstitution - Missense
BCORENSG00000183337ENST00000378444p.H750Hc.2250T>CSubstitution - coding silent
RPGRENSG00000156313ENST00000378505p.G370Gc.1110T>CSubstitution - coding silent
RPGRENSG00000156313ENST00000318842p.G370Gc.1110T>CSubstitution - coding silent
CYBBENSG00000165168ENST00000378588p.T183Tc.549G>ASubstitution - coding silent
FAM47BENSG00000189132ENST00000329357p.Q46Lc.137A>TSubstitution - Missense
NM_006904p.Y651Cc.1952A>GSubstitution - Missense
PRKDCENSG00000253729ENST00000314191p.Y651Cc.1952A>GSubstitution - Missense
NM_006904p.N2830fs*16c.8482_8483insAInsertion - Frameshift
PRKDCENSG00000253729ENST00000314191p.N2829fs*16c.8479_8480insAInsertion - Frameshift
POMKENSG00000185900ENST00000331373p.H54Hc.162C>TSubstitution - coding silent
POMKENSG00000185900ENST00000331373p.H54Hc.162C>TSubstitution - coding silent
KAT6AENSG00000083168ENST00000265713p.L342Sc.1025T>CSubstitution - Missense
GOLGA7ENSG00000147533ENST00000357743p.R40Gc.118A>GSubstitution - Missense
ADAM2ENSG00000104755ENST00000265708p.F6Lc.18T>GSubstitution - Missense
C8orf86ENSG00000196166ENST00000358138p.T105Mc.314C>TSubstitution - Missense
BAG4ENSG00000156735ENST00000287322p.I383fs*12c.1140_1141insAInsertion - Frameshift
DDHD2ENSG00000085788ENST00000397166p.I485Ic.1455T>CSubstitution - coding silent
PROSCENSG00000147471ENST00000328195p.M225Vc.673A>GSubstitution - Missense
UNC5DENSG00000156687ENST00000404895p.L448Pc.1343T>CSubstitution - Missense
UNC5DENSG00000156687ENST00000287272p.L443Pc.1328T>CSubstitution - Missense
GPRIN3ENSG00000185477ENST00000333209p.S474Gc.1420A>GSubstitution - Missense
HERC3ENSG00000138641ENST00000402738p.S1007Sc.3021C>TSubstitution - coding silent
SPARCL1ENSG00000152583ENST00000282470p.G441Gc.1323C>TSubstitution - coding silent
AFF1ENSG00000172493ENST00000395146p.I64Mc.192A>GSubstitution - Missense
AFF1ENSG00000172493ENST00000395146p.E316Ec.948A>GSubstitution - coding silent
ARHGAP24ENSG00000138639ENST00000395184p.S371Gc.1111A>GSubstitution - Missense
WDFY3ENSG00000163625ENST00000295888p.L185Pc.554T>CSubstitution - Missense
CPZENSG00000109625ENST00000360986p.E481fs*33c.1440_1441insCInsertion - Frameshift
WDFY3ENSG00000163625ENST00000295888p.S1260Sc.3780A>GSubstitution - coding silent
WDFY3ENSG00000163625ENST00000295888p.I1249Vc.3745A>GSubstitution - Missense
LIN54ENSG00000189308ENST00000340417p.?c.808+5T>CUnknown
TTYH2ENSG00000141540ENST00000269346p.C300Cc.900C>TSubstitution - coding silent
SLC2A4ENSG00000181856ENST00000317370p.Y440Cc.1319A>GSubstitution - Missense
DVL2ENSG00000004975ENST00000005340p.G644fs*37c.1931delGDeletion - Frameshift
ASGR1ENSG00000141505ENST00000380920p.G114Gc.342A>GSubstitution - coding silent
SLC16A11ENSG00000174326ENST00000308009p.V107Mc.319G>ASubstitution - Missense
ABCA9ENSG00000154258ENST00000340001p.A79Vc.236C>TSubstitution - Missense
ABCA6ENSG00000154262ENST00000284425p.H515Yc.1543C>TSubstitution - Missense
TRIM28ENSG00000130726ENST00000253024p.C120Yc.359G>ASubstitution - Missense
AMZ2ENSG00000196704ENST00000359783p.S149Sc.447T>CSubstitution - coding silent
ZSCAN18ENSG00000121413ENST00000433686p.P290Hc.869C>ASubstitution - Missense
ZNF671ENSG00000083814ENST00000317398p.T521Ac.1561A>GSubstitution - Missense
AURKCENSG00000105146ENST00000448930p.G201Gc.603A>GSubstitution - coding silent
AURKCENSG00000105146ENST00000302804p.G235Gc.705A>GSubstitution - coding silent
PEG3ENSG00000198300ENST00000326441p.N755Nc.2265C>TSubstitution - coding silent
ZNF667ENSG00000198046ENST00000292069p.L373Lc.1119T>CSubstitution - coding silent
ZNF667ENSG00000198046ENST00000342634p.L501Lc.1503T>CSubstitution - coding silent
ZNF667ENSG00000198046ENST00000292069p.Q236Qc.708A>GSubstitution - coding silent
HSD11B1LENSG00000167733ENST00000423665p.F14Fc.42C>TSubstitution - coding silent
NLRP5ENSG00000171487ENST00000390649p.V283Ac.848T>CSubstitution - Missense
NLRP5ENSG00000171487ENST00000390649p.M912Ic.2736G>ASubstitution - Missense
NLRP13ENSG00000173572ENST00000342929p.E74Ec.222A>GSubstitution - coding silent
NLRP11ENSG00000179873ENST00000443188p.D5Vc.14A>TSubstitution - Missense
NLRP11ENSG00000179873ENST00000443188p.N817fs*7c.2450delADeletion - Frameshift
ZNF628ENSG00000197483ENST00000391718p.G803fs*9c.2403delGDeletion - Frameshift
PHF8ENSG00000172943ENST00000357988p.P944Hc.2831C>ASubstitution - Missense
XM_497119.1p.I261fs*8c.780_781delCADeletion - Frameshift
KDM5CENSG00000126012ENST00000375401p.L1255Lc.3765G>ASubstitution - coding silent
KDM5CENSG00000126012ENST00000452825p.L1188Lc.3564G>ASubstitution - coding silent
SSX7ENSG00000187754ENST00000298181p.?c.280+10C>TUnknown
XAGE3ENSG00000171402ENST00000375491p.E33Kc.97G>ASubstitution - Missense
CTNNB1ENSG00000168036ENST00000349496p.T779Tc.2337T>CSubstitution - coding silent
OXSR1ENSG00000172939ENST00000311806p.L171fs*1c.507delTDeletion - Frameshift
PLCD1ENSG00000187091ENST00000334661p.A282Ac.846T>CSubstitution - coding silent
GOLGA4ENSG00000144674ENST00000361924p.H1062Hc.3186T>CSubstitution - coding silent
ITGA9ENSG00000144668ENST00000264741p.?c.2234+5delgUnknown
TRANK1ENSG00000168016ENST00000429976p.S343Pc.1027T>CSubstitution - Missense
MLH1ENSG00000076242ENST00000231790p.T117Mc.350C>TSubstitution - Missense
UBP1ENSG00000153560ENST00000283629p.R125Rc.375G>ASubstitution - coding silent
GLB1ENSG00000170266ENST00000445488p.?c.541-8T>CUnknown
TRIM71ENSG00000206557ENST00000383763p.S710Sc.2130T>CSubstitution - coding silent
CCR4ENSG00000183813ENST00000330953p.F326fs*>35c.974delTDeletion - Frameshift
NM_006343p.?c.1450+1G>AUnknown
RANBP2ENSG00000153201ENST00000283195p.R1555*c.4663C>TSubstitution - Nonsense
RANBP2ENSG00000153201ENST00000283195p.E1887delEc.5657_5659delAAGDeletion - In frame
SULT1C2ENSG00000198203ENST00000251481p.R131Qc.392G>ASubstitution - Missense
SULT1C2ENSG00000198203ENST00000326853p.R142Qc.425G>ASubstitution - Missense
MRPS9ENSG00000135972ENST00000258455p.T357Ac.1069A>GSubstitution - Missense
TGFBRAP1ENSG00000135966ENST00000258449p.L796Lc.2386T>CSubstitution - coding silent
POU3F3ENSG00000198914ENST00000361360p.E314Gc.941A>GSubstitution - Missense
IL18RAPENSG00000115607ENST00000264260p.D404fs*25c.1207delGDeletion - Frameshift
NM_145686p.S1182Sc.3546A>GSubstitution - coding silent
TBC1D8ENSG00000204634ENST00000376840p.?c.1559-9A>GUnknown
TBC1D8ENSG00000204634ENST00000409318p.?c.1604-9A>GUnknown
CHST10ENSG00000115526ENST00000264249p.S106Fc.317C>TSubstitution - Missense
KIAA0195ENSG00000177728ENST00000314256p.R948Wc.2842C>TSubstitution - Missense
MRPS7ENSG00000125445ENST00000245539p.Q197Qc.591G>ASubstitution - coding silent
ATP5HENSG00000167863ENST00000301587p.D68Dc.204T>CSubstitution - coding silent
OTOP2ENSG00000183034ENST00000331427p.T364Kc.1091C>ASubstitution - Missense
FDXRENSG00000161513ENST00000581530p.L286Vc.856C>GSubstitution - Missense
FDXRENSG00000161513ENST00000581530p.L286Vc.856C>GSubstitution - Missense
DYSFENSG00000135636ENST00000258104p.D215fs*11c.641_644delCAGADeletion - Frameshift
CDH3ENSG00000062038ENST00000429102p.?c.997-4A>GUnknown
DPEP3ENSG00000141096ENST00000268793p.A372Tc.1114G>ASubstitution - Missense
ENST00000319955p.T196Ac.586A>GSubstitution - Missense
CENPTENSG00000102901ENST00000219172p.D218Dc.654C>TSubstitution - coding silent
ENKD1ENSG00000124074ENST00000243878p.N205Nc.615T>CSubstitution - coding silent
RLTPRENSG00000159753ENST00000334583p.A593Vc.1778C>TSubstitution - Missense
FAM65AENSG00000039523ENST00000379312p.S640Sc.1920A>GSubstitution - coding silent
FAM65AENSG00000039523ENST00000042381p.?c.2479-1G>AUnknown
FAM65AENSG00000039523ENST00000379312p.Y161Hc.481T>CSubstitution - Missense
ELMO3ENSG00000102890ENST00000393997p.R603Hc.1808G>ASubstitution - Missense
C16orf70ENSG00000125149ENST00000219139p.G408Gc.1224C>TSubstitution - coding silent
CDH8ENSG00000150394ENST00000577390p.L241Lc.721C>TSubstitution - coding silent
PIGQENSG00000007541ENST00000321878p.V165Ic.493G>ASubstitution - Missense
PGGT1BENSG00000164219ENST00000419445p.F53fs*12c.159delTDeletion - Frameshift
TSSK1BENSG00000212122ENST00000390666p.A93Vc.278C>TSubstitution - Missense
TSSK1BENSG00000212122ENST00000390666p.A93Vc.278C>TSubstitution - Missense
CTNND2ENSG00000169862ENST00000304623p.M1113Tc.3338T>CSubstitution - Missense
SLC26A1ENSG00000145217ENST00000361661p.L555Mc.1663C>ASubstitution - Missense
PDLIM5ENSG00000163110ENST00000317968p.?c.710+1G>AUnknown
PDLIM5ENSG00000163110ENST00000380180p.?c.383+1G>AUnknown
SMARCAD1ENSG00000163104ENST00000354268p.D821Gc.2462A>GSubstitution - Missense
TRAK1ENSG00000182606ENST00000396175p.Y713Cc.2138A>GSubstitution - Missense
ENST00000543338p.?c.2246+3A>GUnknown
ULK4ENSG00000168038ENST00000301831p.?c.1086-1G>AUnknown
NM_017886p.?c.1086-1G>AUnknown
TRAK1ENSG00000182606ENST00000341421p.?c.595+3A>GUnknown
TRAK1ENSG00000182606ENST00000396175p.?c.595+3A>GUnknown
ZNF621ENSG00000172888ENST00000339296p.H281Rc.842A>GSubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.C3942Cc.11826T>CSubstitution - coding silent
FAT4ENSG00000196159ENST00000394329p.V3393Ac.10178T>CSubstitution - Missense
EXOSC9ENSG00000123737ENST00000379663p.V222Ac.665T>CSubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.R3568Qc.10703G>ASubstitution - Missense
C4orf21ENSG00000138658ENST00000309071p.Y655Yc.1965C>TSubstitution - coding silent
EGFENSG00000138798ENST00000265171p.N65Nc.195T>CSubstitution - coding silent
TIPARPENSG00000163659ENST00000295924p.T150Tc.450G>ASubstitution - coding silent
ARHGEF26ENSG00000114790ENST00000356448p.L810Lc.2428C>TSubstitution - coding silent
IGSF10ENSG00000152580ENST00000282466p.V548Ac.1643T>CSubstitution - Missense
SLC6A6ENSG00000131389ENST00000360861p.A343Tc.1027G>ASubstitution - Missense
SH2D6ENSG00000152292ENST00000340326p.G123Rc.367G>ASubstitution - Missense
BOLA3ENSG00000163170ENST00000327428p.T37Ac.109A>GSubstitution - Missense
ESR1ENSG00000091831ENST00000440973p.G160Sc.478G>ASubstitution - Missense
PLEKHG1ENSG00000120278ENST00000358517p.L931Ic.2791C>ASubstitution - Missense
MTHFD1LENSG00000120254ENST00000367321p.V795Fc.2383G>TSubstitution - Missense
KATNA1ENSG00000186625ENST00000335647p.T185Ac.553A>GSubstitution - Missense
ADGBENSG00000118492ENST00000367493p.P371Pc.1113G>ASubstitution - coding silent
STXBP5ENSG00000164506ENST00000321680p.I187Tc.560T>CSubstitution - Missense
ENST00000326929p.I647Vc.1939A>GSubstitution - Missense
SHPRHENSG00000146414ENST00000367505p.G458fs*26c.1371delADeletion - Frameshift
HECAENSG00000112406ENST00000367658p.G335fs*27c.998delGDeletion - Frameshift
NHSL1ENSG00000135540ENST00000343505p.L1396Lc.4188G>TSubstitution - coding silent
NHSL1ENSG00000135540ENST00000342260p.L1442Lc.4326G>TSubstitution - coding silent
NHSL1ENSG00000135540ENST00000343505p.S901Sc.2703G>ASubstitution - coding silent
NHSL1ENSG00000135540ENST00000342260p.L570fs*1c.1708delCDeletion - Frameshift
KIAA1244ENSG00000112379ENST00000251691p.V1837Vc.5511G>CSubstitution - coding silent
IL20RAENSG00000016402ENST00000316649p.Q107Qc.321G>ASubstitution - coding silent
MAP3K5ENSG00000197442ENST00000359015p.I832Tc.2495T>CSubstitution - Missense
MAP3K5ENSG00000197442ENST00000359015p.V800Ac.2399T>CSubstitution - Missense
ADAMTS12ENSG00000151388ENST00000504830p.L1220Vc.3658C>GSubstitution - Missense
PDZD2ENSG00000133401ENST00000282493p.?c.3537+4_3537+7delactgUnknown
SDHAENSG00000073578ENST00000264932p.T656Ic.1967C>TSubstitution - Missense
CDH10ENSG00000040731ENST00000264463p.I617Tc.1850T>CSubstitution - Missense
TBC1D9BENSG00000197226ENST00000356834p.K370Ec.1108A>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.H1201Hc.3603T>CSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.H1262Hc.3786T>CSubstitution - coding silent
ICA1ENSG00000003147ENST00000402384p.T421Tc.1263A>GSubstitution - coding silent
CACNA2D1ENSG00000153956ENST00000356860p.L7Lc.19C>TSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.G4997Gc.14991A>GSubstitution - coding silent
MAGI2ENSG00000187391ENST00000354212p.Q1116*c.3346C>TSubstitution - Nonsense
MDH2ENSG00000146701ENST00000315758p.G37Rc.109G>ASubstitution - Missense
MDH2ENSG00000146701ENST00000315758p.C89Yc.266G>ASubstitution - Missense
SRRM3ENSG00000177679ENST00000388802p.D136Gc.407A>GSubstitution - Missense
PORENSG00000127948ENST00000450476p.G64Dc.191G>ASubstitution - Missense
PLEKHA8ENSG00000106086ENST00000258679p.P351Ac.1051C>GSubstitution - Missense
PLEKHA8ENSG00000106086ENST00000449726p.R442Qc.1325G>ASubstitution - Missense
NFE2L3ENSG00000050344ENST00000056233p.H300Qc.900T>ASubstitution - Missense
LFNGENSG00000106003ENST00000402506p.R9Mc.26G>TSubstitution - Missense
RAPGEF5ENSG00000136237ENST00000344041p.S413Tc.1238G>CSubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.E917Vc.2750A>TSubstitution - Missense
ABCB5ENSG00000004846ENST00000404938p.Y750Hc.2248T>CSubstitution - Missense
ATXN1ENSG00000124788ENST00000244769p.A165fs*23c.493delGDeletion - Frameshift
IGF2RENSG00000197081ENST00000356956p.A1074Ac.3222G>ASubstitution - coding silent
IGF2RENSG00000197081ENST00000356956p.A1360Tc.4078G>ASubstitution - Missense
TCP1ENSG00000120438ENST00000321394p.G431Ec.1292G>ASubstitution - Missense
TAGAPENSG00000164691ENST00000367066p.L111Lc.333A>GSubstitution - coding silent
ARID1BENSG00000049618ENST00000346085p.?c.2879+4C>TUnknown
IL37ENSG00000125571ENST00000263326p.A30Vc.89C>TSubstitution - Missense
SNTG2ENSG00000172554ENST00000308624p.D119Vc.356A>TSubstitution - Missense
TMEM87BENSG00000153214ENST00000283206p.V431Vc.1293T>CSubstitution - coding silent
ENST00000381114p.T895Tc.2685T>GSubstitution - coding silent
ENST00000381114p.C2368Rc.7102T>CSubstitution - Missense
DMDENSG00000198947ENST00000378707p.Q808Qc.2424A>GSubstitution - coding silent
ENST00000378682p.Q1927Qc.5781A>GSubstitution - coding silent
ENST00000378682p.T2343fs?c.7027_7031delACCCCDeletion - Frameshift
IL1RAPL1ENSG00000169306ENST00000378993p.I590Tc.1769T>CSubstitution - Missense
IL1RAPL1ENSG00000169306ENST00000378993p.I590Tc.1769T>CSubstitution - Missense
IL1RAPL1ENSG00000169306ENST00000378993p.L368Pc.1103T>CSubstitution - Missense
IL1RAPL1ENSG00000169306ENST00000378993p.L368Pc.1103T>CSubstitution - Missense
GYG2ENSG00000056998ENST00000381163p.P319fs*14c.947_948insGInsertion - Frameshift
MAGEB6ENSG00000176746ENST00000379034p.E400Kc.1198G>ASubstitution - Missense
APOOENSG00000184831ENST00000379226p.?c.562-2delaUnknown
SH3KBP1ENSG00000147010ENST00000379698p.P349fs*45c.1034_1035insAGInsertion - Frameshift
SH3KBP1ENSG00000147010ENST00000379697p.P430fs*45c.1277_1278insAGInsertion - Frameshift
SU_SK681p.E1245fs*12c.3732delADeletion - Frameshift
NM_001001671.1p.R273Cc.817C>TSubstitution - Missense
TXLNGENSG00000086712ENST00000380122p.F328fs*4c.967_968insAGInsertion - Frameshift
F8ENSG00000185010ENST00000360256p.S62Sc.186A>GSubstitution - coding silent
F8ENSG00000185010ENST00000360256p.S62Sc.186A>GSubstitution - coding silent
F8ENSG00000185010ENST00000360256p.N1092fs*46c.3275delADeletion - Frameshift
F8ENSG00000185010ENST00000360256p.E1057Kc.3169G>ASubstitution - Missense
F8ENSG00000185010ENST00000360256p.S1968Nc.5903G>ASubstitution - Missense
F8ENSG00000185010ENST00000360256p.S1968Nc.5903G>ASubstitution - Missense
ENST00000291567p.I199Ic.597C>TSubstitution - coding silent
PLXNA3ENSG00000130827ENST00000369682p.V287Mc.859G>ASubstitution - Missense
FLNAENSG00000196924ENST00000369850p.A640Ac.1920T>GSubstitution - coding silent
ATP6AP1ENSG00000071553ENST00000369762p.N406Nc.1218C>TSubstitution - coding silent
FLNAENSG00000196924ENST00000369850p.T1685Tc.5055G>ASubstitution - coding silent
FLNAENSG00000196924ENST00000369850p.C1353Cc.4059C>TSubstitution - coding silent
MECP2ENSG00000169057ENST00000303391p.K451Ec.1351A>GSubstitution - Missense
ADAM22ENSG00000008277ENST00000398209p.D653Nc.1957G>ASubstitution - Missense
DBF4ENSG00000006634ENST00000265728p.N25fs*5c.68delADeletion - Frameshift
KIAA1324LENSG00000164659ENST00000450689p.C890Rc.2668T>CSubstitution - Missense
SEMA3DENSG00000153993ENST00000284136p.A379Tc.1135G>ASubstitution - Missense
GRM3ENSG00000198822ENST00000361669p.A293Vc.878C>TSubstitution - Missense
SPP2ENSG00000072080ENST00000373368p.F105Lc.315C>GSubstitution - Missense
MROH2AENSG00000185038ENST00000389758p.R765Wc.2293C>TSubstitution - Missense
USP40ENSG00000085982ENST00000450966p.?c.2416+7A>GUnknown
USP40ENSG00000085982ENST00000450966p.?c.2416+7A>GUnknown
DGKDENSG00000077044ENST00000264057p.A1096Vc.3287C>TSubstitution - Missense
EIF4E2ENSG00000135930ENST00000258416p.T199Tc.597A>GSubstitution - coding silent
SP100ENSG00000067066ENST00000264052p.M492Vc.1474A>GSubstitution - Missense
TRIP12ENSG00000153827ENST00000283943p.D28Nc.82G>ASubstitution - Missense
TRIP12ENSG00000153827ENST00000283943p.S129Pc.385T>CSubstitution - Missense
SPHKAPENSG00000153820ENST00000392056p.A592Tc.1774G>ASubstitution - Missense
XM_051221.5p.R1131Mc.3392G>TSubstitution - Missense
COL4A4ENSG00000081052ENST00000396625p.P1059fs*82c.3176delCDeletion - Frameshift
COL4A3ENSG00000169031ENST00000396578p.G58fs*35c.166delCDeletion - Frameshift
ENST00000328380p.G58fs*38c.166delCDeletion - Frameshift
IRS1ENSG00000169047ENST00000305123p.P368Ac.1102C>GSubstitution - Missense
AP1S3ENSG00000152056ENST00000396654p.A70Ac.210A>GSubstitution - coding silent
MRPL44ENSG00000135900ENST00000258383p.S181Sc.543T>CSubstitution - coding silent
SLC4A3ENSG00000114923ENST00000273063p.G692fs*25c.2070delGDeletion - Frameshift
STK11IPENSG00000144589ENST00000295641p.R846Mc.2537G>TSubstitution - Missense
STK11IPENSG00000144589ENST00000295641p.R846Mc.2537G>TSubstitution - Missense
INHAENSG00000123999ENST00000243786p.A211Vc.632C>TSubstitution - Missense
CCDC108ENSG00000181378ENST00000341552p.S846Gc.2536A>GSubstitution - Missense
WNT6ENSG00000115596ENST00000233948p.D174Gc.521A>GSubstitution - Missense
ZNF142ENSG00000115568ENST00000411696p.R147Rc.441G>ASubstitution - coding silent
STK36ENSG00000163482ENST00000295709p.L565fs*49c.1688delTDeletion - Frameshift
SAP130ENSG00000136715ENST00000357702p.K167fs*39c.498delCDeletion - Frameshift
CNTNAP5ENSG00000155052ENST00000431078p.T1195Tc.3585G>ASubstitution - coding silent
GREB1ENSG00000196208ENST00000263834p.K381Rc.1142A>GSubstitution - Missense
ENST00000505920_v68p.N76Nc.228C>TSubstitution - coding silent
ATP5L2ENSG00000249222ENST00000505920p.N76Nc.228C>TSubstitution - coding silent
TCF20ENSG00000100207ENST00000359486p.E1585fs*30c.4753delGDeletion - Frameshift
TCF20ENSG00000100207ENST00000359486p.Y118Cc.353A>GSubstitution - Missense
ENST00000358511_v70p.A2064Vc.6191C>TSubstitution - Missense
COL6A6ENSG00000206384ENST00000358511p.A2064Vc.6191C>TSubstitution - Missense
ATP2C1ENSG00000017260ENST00000393221p.A60fs*21c.171delADeletion - Frameshift
ENST00000358511_v70p.L1574Pc.4721T>CSubstitution - Missense
COL6A6ENSG00000206384ENST00000358511p.L1574Pc.4721T>CSubstitution - Missense
TRHENSG00000170893ENST00000302649p.C197Yc.590G>ASubstitution - Missense
IQSEC1ENSG00000144711ENST00000429247p.P311Sc.931C>TSubstitution - Missense
IQSEC1ENSG00000144711ENST00000429247p.G867Gc.2601C>TSubstitution - coding silent
TMEM40ENSG00000088726ENST00000314124p.?c.683-8C>TUnknown
SEC61A1ENSG00000058262ENST00000243253p.R205*c.613C>TSubstitution - Nonsense
MCM2ENSG00000073111ENST00000265056p.V679Mc.2035G>ASubstitution - Missense
CHST13ENSG00000180767ENST00000319340p.Y192Cc.575A>GSubstitution - Missense
HEG1ENSG00000173706ENST00000311127p.?c.3996+7A>GUnknown
HEG1ENSG00000173706ENST00000311127p.L883Lc.2647C>TSubstitution - coding silent
NM_053025p.Q63Rc.188A>GSubstitution - Missense
DIRC2ENSG00000138463ENST00000261038p.I415Ic.1245T>CSubstitution - coding silent
TIA1ENSG00000116001ENST00000433529p.T287Ac.859A>GSubstitution - Missense
PCBP1ENSG00000169564ENST00000303577p.A93Tc.277G>ASubstitution - Missense
SLC1A4ENSG00000115902ENST00000234256p.F320Lc.958T>CSubstitution - Missense
VPS54ENSG00000143952ENST00000272322p.S720fs*11c.2157_2158insAInsertion - Frameshift
B3GNT2ENSG00000170340ENST00000301998p.R86Gc.256A>GSubstitution - Missense
USP34ENSG00000115464ENST00000398571p.G878Gc.2634A>GSubstitution - coding silent
SMEK2ENSG00000138041ENST00000345102p.T505Ac.1513A>GSubstitution - Missense
SPTBN1ENSG00000115306ENST00000356805p.T848Tc.2544T>GSubstitution - coding silent
SPTBN1ENSG00000115306ENST00000333896p.T835Tc.2505T>GSubstitution - coding silent
NM_014614.1p.F145Lc.433T>CSubstitution - Missense
TSPYL6ENSG00000178021ENST00000317802p.R393Hc.1178G>ASubstitution - Missense
KLHL30ENSG00000168427ENST00000409223p.S117fs*84c.345delCDeletion - Frameshift
LRRFIP1ENSG00000124831ENST00000392000p.T711Sc.2132C>GSubstitution - Missense
LRRFIP1ENSG00000124831ENST00000244815p.T687Sc.2060C>GSubstitution - Missense
MLPHENSG00000115648ENST00000264605p.Y571Cc.1712A>GSubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.D2112Gc.6335A>GSubstitution - Missense
ACKR3ENSG00000144476ENST00000272928p.C302Yc.905G>ASubstitution - Missense
MAST4ENSG00000069020ENST00000403625p.F327delFc.978_980delCTTDeletion - In frame
MAST4ENSG00000069020ENST00000405643p.F148delFc.441_443delCTTDeletion - In frame
CELSR3ENSG00000008300ENST00000164024p.G1975Cc.5923G>TSubstitution - Missense
NCKIPSDENSG00000213672ENST00000294129p.R688Qc.2063G>ASubstitution - Missense
NCKIPSDENSG00000213672ENST00000294129p.S455Tc.1363T>ASubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.R2973Cc.8917C>TSubstitution - Missense
COL7A1ENSG00000114270ENST00000328333p.I1996fs*9c.5985delCDeletion - Frameshift
COL7A1ENSG00000114270ENST00000328333p.P1372Pc.4116A>GSubstitution - coding silent
ZNF501ENSG00000186446ENST00000396048p.P133Sc.397C>TSubstitution - Missense
KIF15ENSG00000163808ENST00000326047p.N1203fs*9c.3605delADeletion - Frameshift
ZNF445ENSG00000185219ENST00000396077p.K455Kc.1365A>GSubstitution - coding silent
TOPAZ1ENSG00000173769ENST00000309765p.M52Lc.154A>TSubstitution - Missense
TOPAZ1ENSG00000173769ENST00000309765p.M52Lc.154A>TSubstitution - Missense
TYMPENSG00000025708ENST00000395678p.?c.516+10G>AUnknown
CRELD2ENSG00000184164ENST00000404488p.C168Cc.504C>TSubstitution - coding silent
CRELD2ENSG00000184164ENST00000328268p.C168Cc.504C>TSubstitution - coding silent
TTLL8ENSG00000138892ENST00000266182p.A723Vc.2168C>TSubstitution - Missense
BRD1ENSG00000100425ENST00000216267p.D630Gc.1889A>GSubstitution - Missense
BRD1ENSG00000100425ENST00000342989p.D225Gc.674A>GSubstitution - Missense
ZBED4ENSG00000100426ENST00000216268p.L849Lc.2547G>ASubstitution - coding silent
TTC38ENSG00000075234ENST00000381031p.V437Ic.1309G>ASubstitution - Missense
SMC1BENSG00000077935ENST00000357450p.?c.298+3A>GUnknown
NUP50ENSG00000093000ENST00000347635p.T259Mc.776C>TSubstitution - Missense
ARHGAP8ENSG00000241484ENST00000389774p.K84Kc.252G>ASubstitution - coding silent
NM_181334.1p.K120Kc.360G>ASubstitution - coding silent
MUC17ENSG00000169876ENST00000306151p.Q1903Pc.5708A>CSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.N108Sc.323A>GSubstitution - Missense
PNISRENSG00000132424ENST00000369239p.Q10Qc.30G>ASubstitution - coding silent
ZCWPW1ENSG00000078487ENST00000398027p.G305Gc.915G>ASubstitution - coding silent
CUL7ENSG00000044090ENST00000265348p.P320Sc.958C>TSubstitution - Missense
PEX6ENSG00000124587ENST00000304611p.?c.1688+2T>CUnknown
PPP2R5DENSG00000112640ENST00000485511p.K83delKc.244_246delAAGDeletion - In frame
TBCCENSG00000124659ENST00000372876p.T242Ac.724A>GSubstitution - Missense
NCR2ENSG00000096264ENST00000373086p.L182Fc.544C>TSubstitution - Missense
KIF6ENSG00000164627ENST00000287152p.I229Ic.687T>CSubstitution - coding silent
DNAH8ENSG00000124721ENST00000359357p.G3545Dc.10634G>ASubstitution - Missense
NM_001371.1p.G3545Dc.10634G>ASubstitution - Missense
BTBD9ENSG00000183826ENST00000403056p.D341Gc.1022A>GSubstitution - Missense
STK38ENSG00000112079ENST00000229812p.?c.131+2T>CUnknown
C6orf89ENSG00000198663ENST00000355190p.R57fs*10c.171delADeletion - Frameshift
C6orf222ENSG00000189325ENST00000437635p.V251Vc.753G>ASubstitution - coding silent
SRPK1ENSG00000096063ENST00000373822p.L500Ic.1498C>ASubstitution - Missense
TULP1ENSG00000112041ENST00000229771p.D498Hc.1492G>CSubstitution - Missense
LHFPL2ENSG00000145685ENST00000380345p.N223fs*2c.668delADeletion - Frameshift
SV2CENSG00000122012ENST00000502798p.T567Mc.1700C>TSubstitution - Missense
HMGCRENSG00000113161ENST00000511206p.?c.556+2T>CUnknown
HMGCRENSG00000113161ENST00000511206p.N419Yc.1255A>TSubstitution - Missense
NSA2ENSG00000164346ENST00000296802p.M149Tc.446T>CSubstitution - Missense
UTP15ENSG00000164338ENST00000296792p.M345Tc.1034T>CSubstitution - Missense
BDP1ENSG00000145734ENST00000358731p.P178Sc.532C>TSubstitution - Missense
CCNB1ENSG00000134057ENST00000256442p.?c.193-5T>CUnknown
SMARCA2ENSG00000080503ENST00000349721p.R979Hc.2936G>ASubstitution - Missense
SMARCA2ENSG00000080503ENST00000349721p.H81Hc.243T>CSubstitution - coding silent
ADAMTSL1ENSG00000178031ENST00000380548p.?c.2551+4A>GUnknown
PSIP1ENSG00000164985ENST00000380733p.A162Ac.486A>CSubstitution - coding silent
PSIP1ENSG00000164985ENST00000380716p.A162Ac.486A>CSubstitution - coding silent
FREM1ENSG00000164946ENST00000422223p.R415fs*12c.1243_1244insCInsertion - Frameshift
EHMT1ENSG00000181090ENST00000460843p.R1264Qc.3791G>ASubstitution - Missense
ENST00000298728p.R1233Qc.3698G>ASubstitution - Missense
CACNA1BENSG00000148408ENST00000371372p.?c.391-7C>AUnknown
EHMT1ENSG00000181090ENST00000460843p.A597Tc.1789G>ASubstitution - Missense
NDOR1ENSG00000188566ENST00000371521p.R598Wc.1792C>TSubstitution - Missense
RNF208ENSG00000212864ENST00000392827p.Q169Rc.506A>GSubstitution - Missense
DPP7ENSG00000176978ENST00000371579p.M271Ic.813G>ASubstitution - Missense
GRIN1ENSG00000176884ENST00000371561p.G827Rc.2479G>ASubstitution - Missense
NPDC1ENSG00000107281ENST00000371601p.L271Pc.812T>CSubstitution - Missense
ABCA2ENSG00000107331ENST00000341511p.M2009Tc.6026T>CSubstitution - Missense
ABCA2ENSG00000107331ENST00000341511p.T696Tc.2088A>GSubstitution - coding silent
ENST00000419043p.T420Tc.1260G>ASubstitution - coding silent
TBL2ENSG00000106638ENST00000305632p.Y319Hc.955T>CSubstitution - Missense
BAZ1BENSG00000009954ENST00000339594p.E736Dc.2208A>TSubstitution - Missense
ENST00000222857p.P130Pc.390G>ASubstitution - coding silent
PRKAR1BENSG00000188191ENST00000360274p.R115Gc.343A>GSubstitution - Missense
RABGEF1ENSG00000154710ENST00000510829p.P329fs*19c.981delCDeletion - Frameshift
ZNF92ENSG00000146757ENST00000328747p.A24Vc.71C>TSubstitution - Missense
ZNF680ENSG00000173041ENST00000309683p.P489Sc.1465C>TSubstitution - Missense
ORC5ENSG00000164815ENST00000297431p.V214Fc.640G>TSubstitution - Missense
SLC26A5ENSG00000170615ENST00000393735p.I57fs*1c.169delADeletion - Frameshift
CUX1ENSG00000257923ENST00000292535p.K346Nc.1038A>TSubstitution - Missense
ZNF714ENSG00000160352ENST00000291770p.E477Gc.1430A>GSubstitution - Missense
ZNF714ENSG00000160352ENST00000291770p.E372Gc.1115A>GSubstitution - Missense
ENST00000344519_v61p.T300fs*4c.898_899insAInsertion - Frameshift
ENST00000344519_v61p.T272fs*4c.815_897del83Deletion - Frameshift
ZNF14ENSG00000105708ENST00000344099p.P586Lc.1757C>TSubstitution - Missense
ATP13A1ENSG00000105726ENST00000357324p.?c.2632+4A>GUnknown
CILP2ENSG00000160161ENST00000291495p.D631Dc.1893C>TSubstitution - coding silent
MAU2ENSG00000129933ENST00000392313p.A356Tc.1066G>ASubstitution - Missense
NCANENSG00000130287ENST00000252575p.P114Sc.340C>TSubstitution - Missense
CRTC1ENSG00000105662ENST00000338797p.S585fs*9c.1753delTDeletion - Frameshift
CRTC1ENSG00000105662ENST00000321949p.S569fs*9c.1705delTDeletion - Frameshift
CRLF1ENSG00000006016ENST00000392386p.G191Rc.571G>ASubstitution - Missense
KLHL26ENSG00000167487ENST00000300976p.V526Mc.1576G>ASubstitution - Missense
ISYNA1ENSG00000105655ENST00000338128p.V534Vc.1602A>GSubstitution - coding silent
KIAA1683ENSG00000130518ENST00000392413p.M1103Tc.3308T>CSubstitution - Missense
ATP8B3ENSG00000130270ENST00000525591p.T87Tc.261G>ASubstitution - coding silent
FAM46DENSG00000174016ENST00000538312p.G140Wc.418G>TSubstitution - Missense
PGK1ENSG00000102144ENST00000373316p.K216Tc.647A>CSubstitution - Missense
ATP7AENSG00000165240ENST00000341514p.A522Vc.1565C>TSubstitution - Missense
NM_000052.2p.A522Vc.1565C>TSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.S747Rc.2239A>CSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.S747Rc.2239A>CSubstitution - Missense
ENST00000373468p.T326Ac.976A>GSubstitution - Missense
ERCC6LENSG00000186871ENST00000334463p.C82Rc.244T>CSubstitution - Missense
OGTENSG00000147162ENST00000373719p.S669Gc.2005A>GSubstitution - Missense
OGTENSG00000147162ENST00000373701p.S659Gc.1975A>GSubstitution - Missense
NLGN3ENSG00000196338ENST00000358741p.E452Dc.1356G>TSubstitution - Missense
NLGN3ENSG00000196338ENST00000374051p.E432Dc.1296G>TSubstitution - Missense
NLGN3ENSG00000196338ENST00000358741p.N700Sc.2099A>GSubstitution - Missense
NLGN3ENSG00000196338ENST00000374051p.N680Sc.2039A>GSubstitution - Missense
OPHN1ENSG00000079482ENST00000355520p.?c.486+2T>CUnknown
NM_001010888.1p.Q82*c.244C>TSubstitution - Nonsense
KLF8ENSG00000102349ENST00000468660p.K332Ec.994A>GSubstitution - Missense
PFKFB1ENSG00000158571ENST00000375006p.S408Rc.1222A>CSubstitution - Missense
TUBA3EENSG00000152086ENST00000312988p.?c.4-10C>TUnknown
ZNF668ENSG00000167394ENST00000539836p.E530fs*22c.1587delTDeletion - Frameshift
SETD1AENSG00000099381ENST00000262519p.?c.150+7G>AUnknown
SRCAPENSG00000080603ENST00000262518p.S1421Fc.4262C>TSubstitution - Missense
HCFC1R1ENSG00000103145ENST00000248089p.M84fs*1c.249delCDeletion - Frameshift
ZNF48ENSG00000180035ENST00000320159p.A341Tc.1021G>ASubstitution - Missense
ITGALENSG00000005844ENST00000356798p.A41Tc.121G>ASubstitution - Missense
FAM57BENSG00000149926ENST00000380495p.L73Lc.219G>ASubstitution - coding silent
TAOK2ENSG00000149930ENST00000416441p.S41Sc.123A>GSubstitution - coding silent
GTF3C1ENSG00000077235ENST00000356183p.D1621Gc.4862A>GSubstitution - Missense
KDM8ENSG00000155666ENST00000441782p.G336Gc.1008C>TSubstitution - coding silent
TBC1D24ENSG00000162065ENST00000567020p.A509Ac.1527G>ASubstitution - coding silent
FTLENSG00000087086ENST00000331825p.?c.375+1_376-1del176Unknown
MAMSTRENSG00000176909ENST00000318083p.?c.910-6C>TUnknown
MAMSTRENSG00000176909ENST00000318083p.T262fs*46c.779_780insCInsertion - Frameshift
MAMSTRENSG00000176909ENST00000356751p.T159fs*46c.470_471insCInsertion - Frameshift
CCDC114ENSG00000105479ENST00000315396p.L227Ic.679C>ASubstitution - Missense
CCDC114ENSG00000105479ENST00000315396p.L20Ic.58C>ASubstitution - Missense
PLA2G4CENSG00000105499ENST00000413144p.T401Tc.1203G>ASubstitution - coding silent
TICAM1ENSG00000127666ENST00000248244p.P367_S368insPPc.1101_1102insCCTCCTInsertion - In frame
SLC8A2ENSG00000118160ENST00000236877p.A157Ac.471G>ASubstitution - coding silent
ENST00000317082_v61p.G1131Rc.3391G>ASubstitution - Missense
ENST00000317082p.V1459Ic.4375G>ASubstitution - Missense
ENST00000357909p.P285Pc.855G>ASubstitution - coding silent
PPP5CENSG00000011485ENST00000012443p.R87Qc.260G>ASubstitution - Missense
RSPH6AENSG00000104941ENST00000221538p.P617Pc.1851G>ASubstitution - coding silent
EML2ENSG00000125746ENST00000245925p.P411Tc.1231C>ASubstitution - Missense
ERCC2ENSG00000104884ENST00000485403p.S397Ic.1190G>TSubstitution - Missense
TOMM40ENSG00000130204ENST00000252487p.F314Sc.941T>CSubstitution - Missense
ENST00000396750_v65p.R153Hc.458G>ASubstitution - Missense
NM_012116.2p.G72fs*207c.211delGDeletion - Frameshift
DOT1LENSG00000104885ENST00000398665p.T100Mc.299C>TSubstitution - Missense
SMARCA5ENSG00000153147ENST00000283131p.P807Pc.2421T>GSubstitution - coding silent
SLC25A36ENSG00000114120ENST00000324194p.?c.284+3_284+7delaaaaaUnknown
COPB2ENSG00000184432ENST00000333188p.A555Vc.1664C>TSubstitution - Missense
A4GNTENSG00000118017ENST00000236709p.L9Mc.25C>ASubstitution - Missense
KYENSG00000174611ENST00000423778p.G128Ec.383G>ASubstitution - Missense
KYENSG00000174611ENST00000423778p.G128Ec.383G>ASubstitution - Missense
TOPBP1ENSG00000163781ENST00000260810p.N469Sc.1406A>GSubstitution - Missense
NM_007027.2p.N382Sc.1145A>GSubstitution - Missense
DNAJC13ENSG00000138246ENST00000260818p.G2237Gc.6711C>TSubstitution - coding silent
DTX3LENSG00000163840ENST00000296161p.V573fs*62c.1711delADeletion - Frameshift
CASRENSG00000036828ENST00000296154p.N893Nc.2679C>TSubstitution - coding silent
IQCB1ENSG00000173226ENST00000310864p.R341Rc.1023G>ASubstitution - coding silent
FBXO40ENSG00000163833ENST00000338040p.T386Tc.1158T>GSubstitution - coding silent
FSTL1ENSG00000163430ENST00000295633p.C253Cc.759T>CSubstitution - coding silent
C3orf30ENSG00000163424ENST00000295622p.Q321Rc.962A>GSubstitution - Missense
KIAA1407ENSG00000163617ENST00000295878p.N387fs*32c.1160delADeletion - Frameshift
THSD7BENSG00000144229ENST00000272643p.D1226Nc.3676G>ASubstitution - Missense
THSD7BENSG00000144229ENST00000413152p.D1195Nc.3583G>ASubstitution - Missense
CCNT2ENSG00000082258ENST00000264157p.H403Qc.1209T>ASubstitution - Missense
MGAT5ENSG00000152127ENST00000281923p.F550Lc.1648T>CSubstitution - Missense
NCKAP5ENSG00000176771ENST00000405974p.R301Hc.902G>ASubstitution - Missense
AMER3ENSG00000178171ENST00000321420p.R337Sc.1011G>TSubstitution - Missense
AMER3ENSG00000178171ENST00000321420p.R606Qc.1817G>ASubstitution - Missense
ARHGEF4ENSG00000136002ENST00000326016p.A262Tc.784G>ASubstitution - Missense
ARHGEF4ENSG00000136002ENST00000392953p.A262Tc.784G>ASubstitution - Missense
PTPN18ENSG00000072135ENST00000175756p.S184Fc.551C>TSubstitution - Missense
AFF4ENSG00000072364ENST00000265343p.K569fs*14c.1706delADeletion - Frameshift
KIF3AENSG00000131437ENST00000378746p.R671*c.2011C>TSubstitution - Nonsense
P4HA2ENSG00000072682ENST00000166534p.?c.1371+2T>CUnknown
FNIP1ENSG00000217128ENST00000510461p.S368Nc.1103G>ASubstitution - Missense
SLC12A2ENSG00000064651ENST00000262461p.E1106Ec.3318A>GSubstitution - coding silent
FBN2ENSG00000138829ENST00000508053p.L2853Fc.8557C>TSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.L2853Fc.8557C>TSubstitution - Missense
PRRC1ENSG00000164244ENST00000442138p.P170Hc.509C>ASubstitution - Missense
HSD17B4ENSG00000133835ENST00000256216p.Y676Hc.2026T>CSubstitution - Missense
NOP14ENSG00000087269ENST00000314262p.E341Kc.1021G>ASubstitution - Missense
MFSD10ENSG00000109736ENST00000355443p.A178Ac.534G>TSubstitution - coding silent
TBC1D19ENSG00000109680ENST00000264866p.A489Vc.1466C>TSubstitution - Missense
SH3BP2ENSG00000087266ENST00000389838p.A89Tc.265G>ASubstitution - Missense
FAM193AENSG00000125386ENST00000382839p.T66Mc.197C>TSubstitution - Missense
PACRGLENSG00000163138ENST00000295290p.?c.609+10G>AUnknown
FAT1ENSG00000083857ENST00000441802p.A467Ac.1401G>ASubstitution - coding silent
MTNR1AENSG00000168412ENST00000307161p.S110Nc.329G>ASubstitution - Missense
FAM149AENSG00000109794ENST00000503432p.R145Rc.435C>TSubstitution - coding silent
FGBENSG00000171564ENST00000302068p.T186Ic.557C>TSubstitution - Missense
DCHS2ENSG00000197410ENST00000357232p.?c.5213-4A>GUnknown
SFRP2ENSG00000145423ENST00000274063p.S157Sc.471C>TSubstitution - coding silent
KIAA0922ENSG00000121210ENST00000409959p.L256fs*5c.764delTDeletion - Frameshift
ENST00000361316p.L108fs*5c.320delTDeletion - Frameshift
HHIPENSG00000164161ENST00000296575p.G489Cc.1465G>TSubstitution - Missense
PDGFBENSG00000100311ENST00000331163p.V208Mc.622G>ASubstitution - Missense
PDGFBENSG00000100311ENST00000381551p.V193Mc.577G>ASubstitution - Missense
APOBEC3FENSG00000128394ENST00000308521p.A101Ac.303G>ASubstitution - coding silent
DDX17ENSG00000100201ENST00000403230p.D325Dc.975C>TSubstitution - coding silent
APOL2ENSG00000128335ENST00000358502p.A226Tc.676G>ASubstitution - Missense
APOL4ENSG00000100336ENST00000352371p.G297Gc.891T>CSubstitution - coding silent
CNN2ENSG00000064666ENST00000263097p.G265Gc.795C>TSubstitution - coding silent
SOGA2ENSG00000168502ENST00000359865p.D450Ac.1349A>CSubstitution - Missense
PTPRMENSG00000173482ENST00000332175p.G269Rc.805G>ASubstitution - Missense
ARHGAP28ENSG00000088756ENST00000314319p.P480Pc.1440G>ASubstitution - coding silent
ARHGAP28ENSG00000088756ENST00000400091p.P639Pc.1917G>ASubstitution - coding silent
TYMSENSG00000176890ENST00000323274p.R115*c.343C>TSubstitution - Nonsense
TBL1XENSG00000101849ENST00000407597p.T502Mc.1505C>TSubstitution - Missense
DIAPH2ENSG00000147202ENST00000324765p.?c.342+7T>CUnknown
DACH2ENSG00000126733ENST00000373125p.A200Ac.600A>GSubstitution - coding silent
ELL2ENSG00000118985ENST00000237853p.D409Gc.1226A>GSubstitution - Missense
ARSKENSG00000164291ENST00000380009p.G44Rc.130G>ASubstitution - Missense
KIAA0825ENSG00000185261ENST00000312498p.S867fs*10c.2599delTDeletion - Frameshift
MSH3ENSG00000113318ENST00000265081p.L414Pc.1241T>CSubstitution - Missense
RASGRF2ENSG00000113319ENST00000265080p.T298Sc.892A>TSubstitution - Missense
TRPC7ENSG00000069018ENST00000513104p.R218Rc.654C>TSubstitution - coding silent
TGFBIENSG00000120708ENST00000442011p.A481Vc.1442C>TSubstitution - Missense
TXNDC15ENSG00000113621ENST00000358387p.A119Ac.357G>ASubstitution - coding silent
PITX1ENSG00000069011ENST00000265340p.G73Gc.219A>GSubstitution - coding silent
JADE2ENSG00000043143ENST00000395003p.R772Wc.2314C>TSubstitution - Missense
SEC24AENSG00000113615ENST00000398844p.S1032Pc.3094T>CSubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.S502Gc.1504A>GSubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.Q32Rc.95A>GSubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.Q32Rc.95A>GSubstitution - Missense
FAM167AENSG00000154319ENST00000284486p.P93fs*28c.278delCDeletion - Frameshift
DSPENSG00000096696ENST00000379802p.W550*c.1650G>ASubstitution - Nonsense
DDX43ENSG00000080007ENST00000370336p.R50Hc.149G>ASubstitution - Missense
KHDC3LENSG00000203908ENST00000370367p.R5Rc.15G>ASubstitution - coding silent
CAGE1ENSG00000164304ENST00000296742p.K244fs*10c.731delADeletion - Frameshift
PHF3ENSG00000118482ENST00000262043p.I454_E455delIEc.1359_1364delTATAGADeletion - In frame
PHF3ENSG00000118482ENST00000262043p.I454Ic.1362A>TSubstitution - coding silent
PHF3ENSG00000118482ENST00000262043p.H542Hc.1626T>CSubstitution - coding silent
EYSENSG00000188107ENST00000370621p.K3064Ec.9190A>GSubstitution - Missense
DSTENSG00000151914ENST00000370765p.A1569Tc.4705G>ASubstitution - Missense
DSTENSG00000151914ENST00000370765p.A1569Tc.4705G>ASubstitution - Missense
COL21A1ENSG00000124749ENST00000244728p.G907Dc.2720G>ASubstitution - Missense
COL21A1ENSG00000124749ENST00000244728p.G907Dc.2720G>ASubstitution - Missense
FAM26FENSG00000188820ENST00000368605p.T296Tc.888G>ASubstitution - coding silent
LAMA4ENSG00000112769ENST00000389463p.E886fs*55c.2655delADeletion - Frameshift
TRAF3IP2ENSG00000056972ENST00000368761p.?c.1290+4_1290+7delagtaUnknown
SLC22A16ENSG00000004809ENST00000368919p.V444Ac.1331T>CSubstitution - Missense
FIG4ENSG00000112367ENST00000230124p.R679Qc.2036G>ASubstitution - Missense
CD164ENSG00000135535ENST00000310786p.?c.332-6T>AUnknown
PREPENSG00000085377ENST00000369110p.Q268Pc.803A>CSubstitution - Missense
TNRC6BENSG00000100354ENST00000301923p.E34fs*15c.100delGDeletion - Frameshift
TNRC6BENSG00000100354ENST00000454349p.E12fs*15c.34delGDeletion - Frameshift
CACNA1IENSG00000100346ENST00000402142p.F1317delFc.3945_3947delCTTDeletion - In frame
CACNA1IENSG00000100346ENST00000404898p.R416Rc.1248G>ASubstitution - coding silent
MGAT3ENSG00000128268ENST00000341184p.Q298Lc.893A>TSubstitution - Missense
FILIP1ENSG00000118407ENST00000237172p.L376Pc.1127T>CSubstitution - Missense
FILIP1ENSG00000118407ENST00000237172p.Q294fs*5c.880_883delCAGADeletion - Frameshift
FILIP1ENSG00000118407ENST00000237172p.Q1153Qc.3459G>ASubstitution - coding silent
DSPENSG00000096696ENST00000379802p.S1629Ic.4886G>TSubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.P236Hc.707C>ASubstitution - Missense
SIRT5ENSG00000124523ENST00000379250p.A240Tc.718G>ASubstitution - Missense
SIRT5ENSG00000124523ENST00000379262p.A240Tc.718G>ASubstitution - Missense
HBS1LENSG00000112339ENST00000367837p.A302Ac.906T>CSubstitution - coding silent
SGK1ENSG00000118515ENST00000367858p.E278Dc.834G>TSubstitution - Missense
SGK1ENSG00000118515ENST00000413996p.E197Dc.591G>TSubstitution - Missense
SGK1ENSG00000118515ENST00000237305p.E183Dc.549G>TSubstitution - Missense
SLC18B1ENSG00000146409ENST00000275227p.G73Gc.219T>CSubstitution - coding silent
TAAR1ENSG00000146399ENST00000275216p.W60Rc.178T>CSubstitution - Missense
EPB41L2ENSG00000079819ENST00000368128p.H684Hc.2052T>CSubstitution - coding silent
EPB41L2ENSG00000079819ENST00000368128p.S682fs*4c.2040_2041insGInsertion - Frameshift
ECHDC1ENSG00000093144ENST00000531967p.A215Ac.645C>TSubstitution - coding silent
TPD52L1ENSG00000111907ENST00000534000p.V154Ac.461T>CSubstitution - Missense
TRDNENSG00000186439ENST00000398178p.E168Gc.503A>GSubstitution - Missense
HSF2ENSG00000025156ENST00000368455p.?c.532-4T>CUnknown
TBC1D32ENSG00000146350ENST00000398212p.A675Ac.2025T>GSubstitution - coding silent
MCM9ENSG00000111877ENST00000316316p.?c.1528+4C>TUnknown
RNF183ENSG00000165188ENST00000297894p.P14Pc.42C>TSubstitution - coding silent
CEP85LENSG00000111860ENST00000368491p.Q421Qc.1263A>GSubstitution - coding silent
ZFP37ENSG00000136866ENST00000374227p.H567Hc.1701T>CSubstitution - coding silent
EPB41L4BENSG00000095203ENST00000374557p.?c.631+2T>CUnknown
ENST00000374801p.R25Cc.73C>TSubstitution - Missense
TMEM246ENSG00000165152ENST00000374848p.L41fs*34c.115_116insCInsertion - Frameshift
TMEFF1ENSG00000241697ENST00000374879p.P356Sc.1066C>TSubstitution - Missense
MURCENSG00000170681ENST00000307584p.R131Sc.391C>ASubstitution - Missense
ANKS6ENSG00000165138ENST00000353234p.N392fs*7c.1169_1170insAInsertion - Frameshift
ZHX1ENSG00000165156ENST00000395571p.T668fs*3c.1995_1996insAInsertion - Frameshift
TBC1D31ENSG00000156787ENST00000287380p.N1045Hc.3133A>CSubstitution - Missense
SNTB1ENSG00000172164ENST00000395601p.V156Mc.466G>ASubstitution - Missense
COL14A1ENSG00000187955ENST00000297848p.Q763Hc.2289G>TSubstitution - Missense
TAF2ENSG00000064313ENST00000378164p.I604fs*3c.1810delADeletion - Frameshift
TAF2ENSG00000064313ENST00000378164p.P241Hc.722C>ASubstitution - Missense
ENPP2ENSG00000136960ENST00000259486p.R880Hc.2639G>ASubstitution - Missense
ENPP2ENSG00000136960ENST00000522826p.R853Hc.2558G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.R121Hc.362G>ASubstitution - Missense
GPR75ENSG00000119737ENST00000394705p.C238Fc.713G>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.K714Nc.2142G>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.K714Nc.2142G>TSubstitution - Missense
MSH2ENSG00000095002ENST00000233146p.L175Pc.524T>CSubstitution - Missense
MSH2ENSG00000095002ENST00000233146p.?c.942+3_942+18del16Unknown
FAM110CENSG00000184731ENST00000327669p.G259Sc.775G>ASubstitution - Missense
PPM1BENSG00000138032ENST00000282412p.T448Tc.1344A>GSubstitution - coding silent
PLEKHH2ENSG00000152527ENST00000282406p.?c.2301+10_2301+19delttttttttttUnknown
EML4ENSG00000143924ENST00000318522p.?c.1012-9deltUnknown
ACACAENSG00000132142ENST00000353139p.R1485Wc.4453C>TSubstitution - Missense
ACACAENSG00000132142ENST00000360679p.R1390Wc.4168C>TSubstitution - Missense
PIGWENSG00000184886ENST00000328396p.A346Sc.1036G>TSubstitution - Missense
GGNBP2ENSG00000005955ENST00000304718p.R98Hc.293G>ASubstitution - Missense
SLFN12ENSG00000172123ENST00000394562p.T232Tc.696T>CSubstitution - coding silent
OR3A1ENSG00000180090ENST00000323404p.F64Vc.190T>GSubstitution - Missense
NM_006495.2p.V121Mc.361G>ASubstitution - Missense
ATAD5ENSG00000176208ENST00000321990p.I446fs*26c.1330delADeletion - Frameshift
ENSG00000272514ENST00000369562p.R11Mc.32G>TSubstitution - Missense
ENST00000296885p.R11Mc.32G>TSubstitution - Missense
SLC35A1ENSG00000164414ENST00000369552p.?c.355-3_355-2insTUnknown
SNX14ENSG00000135317ENST00000314673p.E587fs*41c.1758delADeletion - Frameshift
SLC35B3ENSG00000124786ENST00000379660p.V67delVc.198_200delGGTDeletion - In frame
SLC35B3ENSG00000124786ENST00000426876p.V133delVc.396_398delGGTDeletion - In frame
UBE3DENSG00000118420ENST00000369747p.S67Pc.199T>CSubstitution - Missense
DOPEY1ENSG00000083097ENST00000349129p.Q49Qc.147A>GSubstitution - coding silent
UPK1AENSG00000105668ENST00000222275p.F80fs*48c.237delTDeletion - Frameshift
RPS6KB1ENSG00000108443ENST00000225577p.?c.780-7A>GUnknown
CLTCENSG00000141367ENST00000269122p.P413delPc.1235_1237delCTCDeletion - In frame
TEX14ENSG00000121101ENST00000240361p.I979fs*80c.2934delCDeletion - Frameshift
TEX14ENSG00000121101ENST00000349033p.I973fs*80c.2916delCDeletion - Frameshift
BZRAP1ENSG00000005379ENST00000343736p.L862Pc.2585T>CSubstitution - Missense
BZRAP1ENSG00000005379ENST00000355701p.L862Pc.2585T>CSubstitution - Missense
OR4D2ENSG00000255713ENST00000545221p.I124Vc.370A>GSubstitution - Missense
MSI2ENSG00000153944ENST00000322684p.H167Rc.500A>GSubstitution - Missense
CCDC182ENSG00000166329ENST00000299415p.K148Mc.443A>TSubstitution - Missense
RABEP1ENSG00000029725ENST00000262477p.R140Qc.419G>ASubstitution - Missense
NM_133373.2p.Y222Hc.664T>CSubstitution - Missense
ENST00000335500p.R99Hc.296G>ASubstitution - Missense
SLC25A39ENSG00000013306ENST00000225308p.D269Gc.806A>GSubstitution - Missense
LSM12ENSG00000161654ENST00000293406p.Y146Hc.436T>CSubstitution - Missense
HDAC5ENSG00000108840ENST00000393622p.R489Wc.1465C>TSubstitution - Missense
PYYENSG00000131096ENST00000360085p.?c.189-7C>TUnknown
ENST00000341011p.L143Lc.427C>TSubstitution - coding silent
BRCA1ENSG00000012048ENST00000471181p.N976Sc.2927A>GSubstitution - Missense
BRCA1ENSG00000012048ENST00000357654p.N976Sc.2927A>GSubstitution - Missense
BRCA1ENSG00000012048ENST00000471181p.H553Rc.1658A>GSubstitution - Missense
BRCA1ENSG00000012048ENST00000357654p.H553Rc.1658A>GSubstitution - Missense
RPL27ENSG00000131469ENST00000253788p.Y85Hc.253T>CSubstitution - Missense
AOC3ENSG00000131471ENST00000308423p.W654fs*25c.1959delTDeletion - Frameshift
WNK4ENSG00000126562ENST00000246914p.R1075Cc.3223C>TSubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.G1098fs*6c.3289delGDeletion - Frameshift
ANKFY1ENSG00000185722ENST00000574367p.G622Gc.1866G>ASubstitution - coding silent
NAGLUENSG00000108784ENST00000225927p.?c.532-1G>TUnknown
KCNH4ENSG00000089558ENST00000264661p.L395Rc.1184T>GSubstitution - Missense
JUPENSG00000173801ENST00000393930p.C457Cc.1371C>TSubstitution - coding silent
NRXN1ENSG00000179915ENST00000404971p.R121Hc.362G>ASubstitution - Missense
ANKHENSG00000154122ENST00000284268p.G211Cc.631G>TSubstitution - Missense
SPINK5ENSG00000133710ENST00000359874p.T287fs*8c.854delADeletion - Frameshift
SPINK5ENSG00000133710ENST00000256084p.T287fs*8c.854delADeletion - Frameshift
PPP2R2BENSG00000156475ENST00000508545p.T211Mc.632C>TSubstitution - Missense
PCDHGC4ENSG00000242419ENST00000306593p.D78Gc.233A>GSubstitution - Missense
PCDHGA12ENSG00000253159ENST00000252085p.A735Vc.2204C>TSubstitution - Missense
PCDHGB6ENSG00000253305ENST00000520790p.I120Ic.360T>CSubstitution - coding silent
PCDHGB6ENSG00000253305ENST00000520790p.A6Vc.17C>TSubstitution - Missense
PCDHGA7ENSG00000253537ENST00000518325p.R30Sc.88C>ASubstitution - Missense
PCDHGA7ENSG00000253537ENST00000518325p.R62Hc.185G>ASubstitution - Missense
PCDHGB3ENSG00000262209ENST00000576222p.T541Mc.1622C>TSubstitution - Missense
PCDHGA5ENSG00000253485ENST00000518069p.F520Fc.1560C>TSubstitution - coding silent
PCDHGA5ENSG00000253485ENST00000518069p.F520Fc.1560C>TSubstitution - coding silent
PCDHGA4ENSG00000262576ENST00000571252p.T72Tc.216G>ASubstitution - coding silent
ENST00000571252_v68p.T72Tc.216G>ASubstitution - coding silent
ATP11BENSG00000058063ENST00000323116p.C1121Cc.3363C>TSubstitution - coding silent
DCUN1D1ENSG00000043093ENST00000292782p.L60Lc.178T>CSubstitution - coding silent
B3GNT5ENSG00000176597ENST00000326505p.H185Yc.553C>TSubstitution - Missense
TBL1XR1ENSG00000177565ENST00000430069p.I3Mc.9A>GSubstitution - Missense
NM_006218.1p.C472Yc.1415G>ASubstitution - Missense
GHSRENSG00000121853ENST00000427970p.G245Dc.734G>ASubstitution - Missense
GHSRENSG00000121853ENST00000241256p.T229Tc.687G>ASubstitution - coding silent
GHSRENSG00000121853ENST00000427970p.T229Tc.687G>ASubstitution - coding silent
LRRC31ENSG00000114248ENST00000316428p.C535Rc.1603T>CSubstitution - Missense
PDCD10ENSG00000114209ENST00000392750p.L44Pc.131T>CSubstitution - Missense
SERPINI1ENSG00000163536ENST00000446050p.R294Gc.880A>GSubstitution - Missense
GOLIM4ENSG00000173905ENST00000470487p.P245Sc.733C>TSubstitution - Missense
OXNAD1ENSG00000154814ENST00000285083p.L195Pc.584T>CSubstitution - Missense
ENST00000437720p.C313Yc.938G>ASubstitution - Missense
WDR87ENSG00000171804ENST00000447313p.Q723Qc.2169A>GSubstitution - coding silent
WDR87ENSG00000171804ENST00000447313p.P1740Pc.5220C>ASubstitution - coding silent
ZNF571ENSG00000180479ENST00000328550p.L30Vc.88T>GSubstitution - Missense
ZNF420ENSG00000197050ENST00000337995p.T582Sc.1745C>GSubstitution - Missense
APBA3ENSG00000011132ENST00000316757p.?c.577-7C>AUnknown
ENST00000332454p.K413Kc.1239A>GSubstitution - coding silent
PIP5K1CENSG00000186111ENST00000335312p.S532Pc.1594T>CSubstitution - Missense
ARHGAP33ENSG00000004777ENST00000314737p.R723Hc.2168G>ASubstitution - Missense
PRODH2ENSG00000250799ENST00000301175p.R146Qc.437G>ASubstitution - Missense
ENSG00000272333ENST00000222270p.T2225fs*38c.6667delCDeletion - Frameshift
OMDENSG00000127083ENST00000375550p.F14fs*36c.42delTDeletion - Frameshift
SEMA4DENSG00000187764ENST00000450295p.F799Vc.2395T>GSubstitution - Missense
DAPK1ENSG00000196730ENST00000358077p.?c.423+4C>TUnknown
DAPK1ENSG00000196730ENST00000408954p.?c.423+4C>TUnknown
FRMD3ENSG00000172159ENST00000304195p.Q277Rc.830A>GSubstitution - Missense
ENST00000376422p.Q173Rc.518A>GSubstitution - Missense
CEP78ENSG00000148019ENST00000376597p.H710fs*3c.2121_2122insAInsertion - Frameshift
GNA14ENSG00000156049ENST00000341700p.E100Ec.300A>GSubstitution - coding silent
PRUNE2ENSG00000106772ENST00000376718p.E1058fs*5c.3173_3174delAGDeletion - Frameshift
NMRK1ENSG00000106733ENST00000376811p.V11Ac.32T>CSubstitution - Missense
OSTF1ENSG00000134996ENST00000346234p.?c.587-10T>CUnknown
RABL6ENSG00000196642ENST00000311502p.S389Nc.1166G>ASubstitution - Missense
RABL6ENSG00000196642ENST00000371663p.R356Hc.1067G>ASubstitution - Missense
RABL6ENSG00000196642ENST00000311502p.R433Hc.1298G>ASubstitution - Missense
C9orf172ENSG00000232434ENST00000436881p.S729Gc.2185A>GSubstitution - Missense
LCN10ENSG00000187922ENST00000497771p.H33Hc.99C>TSubstitution - coding silent
NOTCH1ENSG00000148400ENST00000277541p.P2438Lc.7313C>TSubstitution - Missense
SEC16AENSG00000148396ENST00000313050p.Q661Qc.1983G>ASubstitution - coding silent
SEC16AENSG00000148396ENST00000313050p.A127Vc.380C>TSubstitution - Missense
NM_014866.1p.A127Vc.380C>TSubstitution - Missense
SEC16AENSG00000148396ENST00000313050p.?c.6312+5T>CUnknown
NM_014866.1p.?c.6312+5T>CUnknown
CARD9ENSG00000187796ENST00000371732p.S193Sc.579T>CSubstitution - coding silent
SNAPC4ENSG00000165684ENST00000298532p.?c.2318-4G>AUnknown
BRD3ENSG00000169925ENST00000303407p.E25fs*51c.63_64insCInsertion - Frameshift
VAV2ENSG00000160293ENST00000371850p.T820Ac.2458A>GSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.S775Sc.2325C>GSubstitution - coding silent
AK8ENSG00000165695ENST00000298545p.Y233*c.699C>ASubstitution - Nonsense
AK8ENSG00000165695ENST00000298545p.Y233*c.699C>ASubstitution - Nonsense
DDX31ENSG00000125485ENST00000372159p.E565Gc.1694A>GSubstitution - Missense
SETXENSG00000107290ENST00000224140p.K473fs*8c.1419delADeletion - Frameshift
IL17BENSG00000127743ENST00000261796p.A173Tc.517G>ASubstitution - Missense
PDZD4ENSG00000067840ENST00000164640p.G712Gc.2136C>TSubstitution - coding silent
PDZD4ENSG00000067840ENST00000164640p.?c.61-6C>TUnknown
PLXNB3ENSG00000198753ENST00000538966p.A1434Ac.4302G>ASubstitution - coding silent
PLXNB3ENSG00000198753ENST00000361971p.A1411Ac.4233G>ASubstitution - coding silent
BCAP31ENSG00000185825ENST00000458587p.V75Ic.223G>ASubstitution - Missense
DUSP9ENSG00000130829ENST00000370167p.R180Hc.539G>ASubstitution - Missense
PNMA5ENSG00000198883ENST00000361887p.R312*c.934C>TSubstitution - Nonsense
MAGEA12ENSG00000213401ENST00000357916p.T103Mc.308C>TSubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.W1260Cc.3780G>TSubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.W1260Cc.3780G>TSubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.S660Nc.1979G>ASubstitution - Missense
AFF2ENSG00000155966ENST00000286437p.S301Nc.902G>ASubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.S660Nc.1979G>ASubstitution - Missense
MAGEC1ENSG00000155495ENST00000285879p.R1074Kc.3221G>ASubstitution - Missense
MCF2ENSG00000101977ENST00000370576p.F611fs*8c.1832delTDeletion - Frameshift
MCF2ENSG00000101977ENST00000370578p.F756fs*8c.2267delTDeletion - Frameshift
MCF2ENSG00000101977ENST00000519895p.Q523Rc.1568A>GSubstitution - Missense
OTTHUMT00000055796.1p.V334Vc.1002A>GSubstitution - coding silent
GPR112ENSG00000156920ENST00000394143p.H2138Hc.6414C>TSubstitution - coding silent
MMGT1ENSG00000169446ENST00000305963p.S40Tc.118T>ASubstitution - Missense
ZNF75DENSG00000186376ENST00000370766p.A164Ac.492A>TSubstitution - coding silent
AEBP1ENSG00000106624ENST00000223357p.L590Rc.1769T>GSubstitution - Missense
URGCPENSG00000106608ENST00000453200p.A231Vc.692C>TSubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.R1232Hc.3695G>ASubstitution - Missense
VPS41ENSG00000006715ENST00000310301p.?c.1422+3A>GUnknown
C19orf54ENSG00000188493ENST00000339153p.D80Nc.238G>ASubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.A4334Ac.13002C>TSubstitution - coding silent
PAF1ENSG00000006712ENST00000595564p.S478fs*24c.1432_1433insAInsertion - Frameshift
SARS2ENSG00000104835ENST00000430193p.T92Ac.274A>GSubstitution - Missense
SARS2ENSG00000104835ENST00000430193p.K78Ec.232A>GSubstitution - Missense
NFKBIBENSG00000104825ENST00000313582p.A269Vc.806C>TSubstitution - Missense
SERPINB1ENSG00000021355ENST00000380739p.Y206Cc.617A>GSubstitution - Missense
ZSCAN31ENSG00000235109ENST00000439158p.R240Mc.719G>TSubstitution - Missense
ZNF165ENSG00000197279ENST00000377325p.L19Pc.56T>CSubstitution - Missense
PTTG1ENSG00000164611ENST00000352433p.P164fs*4c.486delCDeletion - Frameshift
ATP10BENSG00000118322ENST00000327245p.?c.2527-1G>TUnknown
ENST00000307063_v68p.G493Rc.1477G>ASubstitution - Missense
PWWP2AENSG00000170234ENST00000456329p.G493Rc.1477G>ASubstitution - Missense
NM_023038.2p.?c.2244-8G>AUnknown
ADAM19ENSG00000135074ENST00000257527p.?c.2241-8G>AUnknown
SLC36A2ENSG00000186335ENST00000335244p.S238Sc.714C>TSubstitution - coding silent
CAMK2AENSG00000070808ENST00000398376p.K226Kc.678A>GSubstitution - coding silent
TAF7ENSG00000178913ENST00000313368p.P106Hc.317C>ASubstitution - Missense
PCDHB11ENSG00000197479ENST00000354757p.R712Qc.2135G>ASubstitution - Missense
PCDHB8ENSG00000120322ENST00000239444p.R462Hc.1385G>ASubstitution - Missense
PCDHB2ENSG00000112852ENST00000194155p.Y753Yc.2259C>TSubstitution - coding silent
PCDHB1ENSG00000171815ENST00000306549p.H782Rc.2345A>GSubstitution - Missense
ENST00000502505_v70p.T36Tc.108G>ASubstitution - coding silent
PCDHA11ENSG00000249158ENST00000398640p.A451Ac.1353G>ASubstitution - coding silent
PCDHA11ENSG00000249158ENST00000398640p.A451Ac.1353G>ASubstitution - coding silent
PCDHA9ENSG00000204961ENST00000532602p.R415Sc.1243C>ASubstitution - Missense
PCDHA10ENSG00000250120ENST00000506939p.S140Sc.420A>CSubstitution - coding silent
PCDHA6ENSG00000081842ENST00000529310p.N697Nc.2091C>TSubstitution - coding silent
PCDHA6ENSG00000081842ENST00000529310p.P5fs*73c.11delCDeletion - Frameshift
ENST00000289630p.P5fs*73c.11delCDeletion - Frameshift
PCDHA3ENSG00000255408ENST00000522353p.R415Hc.1244G>ASubstitution - Missense
PCDHA1ENSG00000204970ENST00000504120p.A512Tc.1534G>ASubstitution - Missense
PCDHA1ENSG00000204970ENST00000378133p.A512Tc.1534G>ASubstitution - Missense
IKENSG00000113141ENST00000417647p.P47Pc.141T>CSubstitution - coding silent
CXXC5ENSG00000171604ENST00000302517p.A238Ac.714G>ASubstitution - coding silent
DNAH5ENSG00000039139ENST00000265104p.S361Sc.1083T>CSubstitution - coding silent
ETF1ENSG00000120705ENST00000360541p.R289*c.865C>TSubstitution - Nonsense
ZMIZ2ENSG00000122515ENST00000309315p.A14Ac.42G>ASubstitution - coding silent
NPC1L1ENSG00000015520ENST00000289547p.G322Dc.965G>ASubstitution - Missense
GALNT11ENSG00000178234ENST00000320311p.S600Sc.1800T>CSubstitution - coding silent
SMARCD3ENSG00000082014ENST00000262188p.?c.579+3A>GUnknown
SMARCD3ENSG00000082014ENST00000392811p.?c.540+3A>GUnknown
TMUB1ENSG00000164897ENST00000392818p.P52Pc.156C>ASubstitution - coding silent
ASIC3ENSG00000213199ENST00000357922p.L434Lc.1300C>TSubstitution - coding silent
ASIC3ENSG00000213199ENST00000349064p.L434Lc.1300C>TSubstitution - coding silent
SLC4A2ENSG00000164889ENST00000485713p.D705fs*1c.2110_2111insTInsertion - Frameshift
AOC1ENSG00000002726ENST00000360937p.V233Mc.697G>ASubstitution - Missense
ZNF212ENSG00000170260ENST00000335870p.V44Mc.130G>ASubstitution - Missense
TAS2R40ENSG00000221937ENST00000408947p.S250Ic.749G>TSubstitution - Missense
TSPAN12ENSG00000106025ENST00000222747p.M128Tc.383T>CSubstitution - Missense
THSD7AENSG00000005108ENST00000423059p.R1046Hc.3137G>ASubstitution - Missense
DOCK4ENSG00000128512ENST00000437633p.N556Nc.1668T>CSubstitution - coding silent
SLC26A3ENSG00000091138ENST00000340010p.A113Tc.337G>ASubstitution - Missense
LAMB1ENSG00000091136ENST00000222399p.T1728fs*3c.5182delADeletion - Frameshift
LAMB1ENSG00000091136ENST00000222399p.?c.4537+2T>CUnknown
BCAP29ENSG00000075790ENST00000445771p.L306fs*1c.911delTDeletion - Frameshift
PIK3CGENSG00000105851ENST00000440650p.Y107Yc.321C>TSubstitution - coding silent
PUS7ENSG00000091127ENST00000356362p.K307Ec.919A>GSubstitution - Missense
PUS7ENSG00000091127ENST00000356362p.S74Ac.220T>GSubstitution - Missense
PUS7ENSG00000091127ENST00000356362p.S66Gc.196A>GSubstitution - Missense
RINT1ENSG00000135249ENST00000257700p.P247Pc.741T>GSubstitution - coding silent
GPANK1ENSG00000204438ENST00000375893p.L123Pc.368T>CSubstitution - Missense
MICBENSG00000204516ENST00000252229p.A269Vc.806C>TSubstitution - Missense
HLA-BENSG00000234745ENST00000412585p.S48Tc.142T>ASubstitution - Missense
ENST00000539307p.A33Sc.97G>TSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.?c.343+5G>TUnknown
HLA-CENSG00000204525ENST00000383329p.?c.343+5G>TUnknown
MDC1ENSG00000137337ENST00000376406p.E468delEc.1403_1405delAAGDeletion - In frame
TRIM40ENSG00000204614ENST00000307859p.Y114Sc.341A>CSubstitution - Missense
OR2H1ENSG00000204688ENST00000377132p.G279Dc.836G>ASubstitution - Missense
ENSG00000260537ENST00000567706p.E243Gc.728A>GSubstitution - Missense
WWP2ENSG00000198373ENST00000359154p.I813Ic.2439C>TSubstitution - coding silent
NUDCD1ENSG00000120526ENST00000239690p.S549Nc.1646G>ASubstitution - Missense
ENST00000312046_v70p.P154Pc.462T>GSubstitution - coding silent
PINX1ENSG00000254093ENST00000314787p.P283Pc.849G>ASubstitution - coding silent
RIMS2ENSG00000176406ENST00000507740p.K1021Rc.3062A>GSubstitution - Missense
RIMS2ENSG00000176406ENST00000436393p.K1225Rc.3674A>GSubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.K1021Rc.3062A>GSubstitution - Missense
AZIN1ENSG00000155096ENST00000337198p.N38fs*12c.113delADeletion - Frameshift
SNX31ENSG00000174226ENST00000311812p.V266Vc.798A>GSubstitution - coding silent
RGS22ENSG00000132554ENST00000360863p.A1180Vc.3539C>TSubstitution - Missense
RGS22ENSG00000132554ENST00000360863p.A1180Vc.3539C>TSubstitution - Missense
VPS13BENSG00000132549ENST00000357162p.T1845fs*6c.5528delADeletion - Frameshift
ACTBENSG00000075624ENST00000331789p.D286Gc.857A>GSubstitution - Missense
EGFRENSG00000146648ENST00000275493p.Y1069Cc.3206A>GSubstitution - Missense
EGFRENSG00000146648ENST00000344576p.Q408Rc.1223A>GSubstitution - Missense
TNRC18ENSG00000182095ENST00000430969p.R1786fs*3c.5356delCDeletion - Frameshift
TNRC18ENSG00000182095ENST00000430969p.R1786fs*3c.5356delCDeletion - Frameshift
TNRC18ENSG00000182095ENST00000430969p.A2707Ac.8121C>TSubstitution - coding silent
TNRC18ENSG00000182095ENST00000430969p.A2707Ac.8121C>TSubstitution - coding silent
COBLENSG00000106078ENST00000395540p.?c.686-5T>CUnknown
RADILENSG00000157927ENST00000399583p.?c.1728+6C>TUnknown
RADILENSG00000157927ENST00000399583p.A1058Vc.3173C>TSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.M3622Ic.10866G>TSubstitution - Missense
PKD1L1ENSG00000158683ENST00000289672p.E2562Dc.7686G>TSubstitution - Missense
CCM2ENSG00000136280ENST00000381112p.L327Lc.981G>ASubstitution - coding silent
EPS15L1ENSG00000127527ENST00000248070p.S306Lc.917C>TSubstitution - Missense
HSH2DENSG00000196684ENST00000397372p.?c.42+5G>AUnknown
CYP4F3ENSG00000186529ENST00000221307p.C206Rc.616T>CSubstitution - Missense
NM_203304.1p.D169Gc.506A>GSubstitution - Missense
AKAP8ENSG00000105127ENST00000269701p.Q628Rc.1883A>GSubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.A1802fs*23c.5404delGDeletion - Frameshift
CASP14ENSG00000105141ENST00000427043p.Q136Qc.408A>GSubstitution - coding silent
CASP14ENSG00000105141ENST00000427043p.?c.624+1G>AUnknown
CCDC105ENSG00000160994ENST00000292574p.L223Pc.668T>CSubstitution - Missense
EMR3ENSG00000131355ENST00000253673p.F254fs*12c.762delTDeletion - Frameshift
LPHN1ENSG00000072071ENST00000340736p.V779Ic.2335G>ASubstitution - Missense
ZSWIM4ENSG00000132003ENST00000254323p.S152Sc.456C>TSubstitution - coding silent
AQP8ENSG00000103375ENST00000219660p.F188Lc.562T>CSubstitution - Missense
AQP8ENSG00000103375ENST00000219660p.F188Lc.562T>CSubstitution - Missense
TNRC6AENSG00000090905ENST00000395799p.V1546Mc.4636G>ASubstitution - Missense
TNRC6AENSG00000090905ENST00000395799p.T1728Ac.5182A>GSubstitution - Missense
TNRC6AENSG00000090905ENST00000395799p.L1875fs*34c.5620_5621delTCDeletion - Frameshift
RBBP6ENSG00000122257ENST00000319715p.P548Lc.1643C>TSubstitution - Missense
PLK1ENSG00000166851ENST00000300093p.V587delVc.1757_1759delTGGDeletion - In frame
PALB2ENSG00000083093ENST00000261584p.F440fs*12c.1314delADeletion - Frameshift
RNPS1ENSG00000205937ENST00000397086p.D33Ec.99C>GSubstitution - Missense
DNASE1L2ENSG00000167968ENST00000320700p.V190Mc.568G>ASubstitution - Missense
IGSF6ENSG00000140749ENST00000268389p.P35Pc.105G>ASubstitution - coding silent
OTOAENSG00000155719ENST00000388958p.T274Mc.821C>TSubstitution - Missense
OTOAENSG00000155719ENST00000388958p.S448Ic.1343G>TSubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.D2821Gc.8462A>GSubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.K1242Ec.3724A>GSubstitution - Missense
DHX38ENSG00000140829ENST00000268482p.D171Dc.513T>CSubstitution - coding silent
DHX38ENSG00000140829ENST00000268482p.S737Lc.2210C>TSubstitution - Missense
WDR90ENSG00000161996ENST00000293879p.?c.4741-8A>GUnknown
HYDINENSG00000157423ENST00000538248p.N882Nc.2646T>CSubstitution - coding silent
ENST00000316490p.N855Nc.2565T>CSubstitution - coding silent
TP53RKENSG00000172315ENST00000372114p.K238fs*2c.714delADeletion - Frameshift
ELMO2ENSG00000062598ENST00000396391p.L197Lc.591G>ASubstitution - coding silent
ZNF335ENSG00000198026ENST00000322927p.D306Ac.917A>CSubstitution - Missense
MMP9ENSG00000100985ENST00000372330p.S548fs*66c.1637delGDeletion - Frameshift
ZNF335ENSG00000198026ENST00000322927p.Q1288Hc.3864G>TSubstitution - Missense
ZSWIM3ENSG00000132801ENST00000454862p.L308Lc.922T>CSubstitution - coding silent
RBPJLENSG00000124232ENST00000343694p.A33Ac.99C>TSubstitution - coding silent
TOMM34ENSG00000025772ENST00000372813p.I147Vc.439A>GSubstitution - Missense
CHD6ENSG00000124177ENST00000373233p.Q1624Pc.4871A>CSubstitution - Missense
ZNF227ENSG00000131115ENST00000313040p.Q102Rc.305A>GSubstitution - Missense
ZNF227ENSG00000131115ENST00000313040p.P450Sc.1348C>TSubstitution - Missense
ZNF233ENSG00000159915ENST00000391958p.T587Tc.1761A>GSubstitution - coding silent
UBXN6ENSG00000167671ENST00000301281p.E389Kc.1165G>ASubstitution - Missense
XRCC1ENSG00000073050ENST00000262887p.T304Tc.912C>TSubstitution - coding silent
MEGF8ENSG00000105429ENST00000251268p.P628Sc.1882C>TSubstitution - Missense
GSK3AENSG00000105723ENST00000222330p.?c.798-1G>AUnknown
ENST00000292077p.A384Tc.1150G>ASubstitution - Missense
POU2F2ENSG00000028277ENST00000389341p.A368Tc.1102G>ASubstitution - Missense
ATP1A3ENSG00000105409ENST00000302102p.T272Mc.815C>TSubstitution - Missense
ANKRD24ENSG00000089847ENST00000318934p.M1124Tc.3371T>CSubstitution - Missense
ANKRD24ENSG00000089847ENST00000262970p.M1214Tc.3641T>CSubstitution - Missense
ENST00000262969p.M647Tc.1940T>CSubstitution - Missense
ANKLE1ENSG00000160117ENST00000404261p.H506Hc.1518T>CSubstitution - coding silent
ENST00000319396p.A500Tc.1498G>ASubstitution - Missense
MACC1ENSG00000183742ENST00000332878p.V555Ac.1664T>CSubstitution - Missense
UBE3CENSG00000009335ENST00000348165p.K603fs*6c.1807delADeletion - Frameshift
LMBR1ENSG00000105983ENST00000353442p.?c.684+6T>CUnknown
PAXIP1ENSG00000157212ENST00000404141p.?c.438+7G>AUnknown
DPP6ENSG00000130226ENST00000377770p.N404Sc.1211A>GSubstitution - Missense
DPP6ENSG00000130226ENST00000332007p.N342Sc.1025A>GSubstitution - Missense
DPP6ENSG00000130226ENST00000377770p.I184fs*4c.544delADeletion - Frameshift
DPP6ENSG00000130226ENST00000332007p.I122fs*4c.358delADeletion - Frameshift
KMT2CENSG00000055609ENST00000262189p.T693Ac.2077A>GSubstitution - Missense
KIAA0232ENSG00000170871ENST00000307659p.G823Wc.2467G>TSubstitution - Missense
C4orf50ENSG00000181215ENST00000324058p.L107Ic.319C>ASubstitution - Missense
KIAA1211ENSG00000109265ENST00000264229p.K167fs*82c.495delADeletion - Frameshift
KDRENSG00000128052ENST00000263923p.?c.2135-6T>CUnknown
PDGFRAENSG00000134853ENST00000257290p.P345Hc.1034C>ASubstitution - Missense
SPATA18ENSG00000163071ENST00000295213p.K172Kc.516G>ASubstitution - coding silent
STK32BENSG00000152953ENST00000282908p.Y140Hc.418T>CSubstitution - Missense
LRRC66ENSG00000188993ENST00000343457p.V113Ac.338T>CSubstitution - Missense
PIGGENSG00000174227ENST00000310340p.A319Vc.956C>TSubstitution - Missense
GPD2ENSG00000115159ENST00000310454p.A352Ac.1056T>CSubstitution - coding silent
NEBENSG00000183091ENST00000397345p.Y85fs*66c.252delCDeletion - Frameshift
NEBENSG00000183091ENST00000409198p.Y85fs*66c.252delCDeletion - Frameshift
NEBENSG00000183091ENST00000397345p.K781Kc.2343G>ASubstitution - coding silent
NEBENSG00000183091ENST00000409198p.K781Kc.2343G>ASubstitution - coding silent
RIF1ENSG00000080345ENST00000444746p.C1734Rc.5200T>CSubstitution - Missense
PREX1ENSG00000124126ENST00000371941p.T1018Tc.3054C>TSubstitution - coding silent
KCNQ3ENSG00000184156ENST00000388996p.R777fs*5c.2323_2324insCInsertion - Frameshift
KCNQ3ENSG00000184156ENST00000388996p.T109Tc.327T>CSubstitution - coding silent
HHLA1ENSG00000132297ENST00000414222p.?c.1469+6T>GUnknown
KIAA0196ENSG00000164961ENST00000318410p.F586Fc.1758C>TSubstitution - coding silent
MTSS1ENSG00000170873ENST00000518547p.R300Hc.899G>ASubstitution - Missense
NM_138995p.H411fs*38c.1225delCDeletion - Frameshift
MYO3BENSG00000071909ENST00000408978p.V1037Ac.3110T>CSubstitution - Missense
NM_138995p.V1037Ac.3110T>CSubstitution - Missense
PPIGENSG00000138398ENST00000260970p.K681fs*12c.2036delADeletion - Frameshift
KLHL23ENSG00000213160ENST00000392647p.I87Tc.260T>CSubstitution - Missense
NOSTRINENSG00000163072ENST00000317647p.H397Hc.1191T>CSubstitution - coding silent
ABCB11ENSG00000073734ENST00000263817p.G455Gc.1365A>GSubstitution - coding silent
B3GALT1ENSG00000172318ENST00000392690p.M290fs*>37c.865delADeletion - Frameshift
SCN1AENSG00000144285ENST00000303395p.Q506Ec.1516C>GSubstitution - Missense
SCN1AENSG00000144285ENST00000375405p.Q506Ec.1516C>GSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.A1287Tc.3859G>ASubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.V243Vc.729G>ASubstitution - coding silent
SGSM1ENSG00000167037ENST00000400358p.D757Yc.2269G>TSubstitution - Missense
GGT5ENSG00000099998ENST00000327365p.D397Gc.1190A>GSubstitution - Missense
ENSG00000267954ENST00000598975p.A134Sc.400G>TSubstitution - Missense
PRAMEENSG00000185686ENST00000398741p.C388Cc.1164T>CSubstitution - coding silent
NM_058004.1p.L491Mc.1471C>ASubstitution - Missense
MED15ENSG00000099917ENST00000263205p.Q453fs*41c.1351delCDeletion - Frameshift
MED15ENSG00000099917ENST00000292733p.Q413fs*41c.1231delCDeletion - Frameshift
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
NM_178001.1p.Y45Hc.133T>CSubstitution - Missense
PHYHD1ENSG00000175287ENST00000308941p.Q60Qc.180G>ASubstitution - coding silent
LRRC8AENSG00000136802ENST00000372599p.E206Gc.617A>GSubstitution - Missense
ZER1ENSG00000160445ENST00000291900p.A374Vc.1121C>TSubstitution - Missense
COQ4ENSG00000167113ENST00000300452p.?c.402+4A>GUnknown
GOLGA2ENSG00000167110ENST00000421699p.P452Sc.1354C>TSubstitution - Missense
SLC25A25ENSG00000148339ENST00000432073p.D394Gc.1181A>GSubstitution - Missense
SLC25A25ENSG00000148339ENST00000373064p.D374Gc.1121A>GSubstitution - Missense
ST6GALNAC6ENSG00000160408ENST00000373146p.N268fs*>66c.801delCDeletion - Frameshift
TTC16ENSG00000167094ENST00000373289p.A848Tc.2542G>ASubstitution - Missense
GARNL3ENSG00000136895ENST00000373387p.I724Vc.2170A>GSubstitution - Missense
RALGPS1ENSG00000136828ENST00000373434p.I268Vc.802A>GSubstitution - Missense
GPR144ENSG00000180264ENST00000334810p.V734Ac.2201T>CSubstitution - Missense
TYRP1ENSG00000107165ENST00000388918p.C303Rc.907T>CSubstitution - Missense
DENND1AENSG00000119522ENST00000373624p.?c.1299+1G>AUnknown
CRB2ENSG00000148204ENST00000373631p.R69fs*73c.202delCDeletion - Frameshift
RC3H2ENSG00000056586ENST00000373670p.A183Vc.548C>TSubstitution - Missense
RC3H2ENSG00000056586ENST00000335387p.A183Vc.548C>TSubstitution - Missense
PTGS1ENSG00000095303ENST00000362012p.Y474Cc.1421A>GSubstitution - Missense
CDK5RAP2ENSG00000136861ENST00000349780p.E1052Gc.3155A>GSubstitution - Missense
AKNAENSG00000106948ENST00000307564p.Q291Rc.872A>GSubstitution - Missense
DFNB31ENSG00000095397ENST00000362057p.T744Mc.2231C>TSubstitution - Missense
DFNB31ENSG00000095397ENST00000374059p.T393Mc.1178C>TSubstitution - Missense
KIF12ENSG00000136883ENST00000374118p.M442Ic.1326G>ASubstitution - Missense
ZNF618ENSG00000157657ENST00000374126p.P355Lc.1064C>TSubstitution - Missense
RGS3ENSG00000138835ENST00000343817p.L667Lc.1999C>TSubstitution - coding silent
NM_144488.2p.L844Lc.2530C>TSubstitution - coding silent
BSPRYENSG00000119411ENST00000374183p.Q73Lc.218A>TSubstitution - Missense
GPR20ENSG00000204882ENST00000377741p.P268Pc.804C>TSubstitution - coding silent
TGENSG00000042832ENST00000220616p.A686Vc.2057C>TSubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.C810Rc.2428T>CSubstitution - Missense
NSD1ENSG00000165671ENST00000439151p.C810Rc.2428T>CSubstitution - Missense
HK3ENSG00000160883ENST00000292432p.L323Lc.969G>ASubstitution - coding silent
GPRIN1ENSG00000169258ENST00000303991p.P20fs*23c.59delCDeletion - Frameshift
THOC3ENSG00000051596ENST00000265097p.R337Qc.1010G>ASubstitution - Missense
DOCK2ENSG00000134516ENST00000256935p.I1004Vc.3010A>GSubstitution - Missense
TENM2ENSG00000145934ENST00000519204p.N2096Dc.6286A>GSubstitution - Missense
CLDN22ENSG00000177300ENST00000323319p.H208Hc.624T>CSubstitution - coding silent
TRAPPC11ENSG00000168538ENST00000334690p.T490Ac.1468A>GSubstitution - Missense
TENM3ENSG00000218336ENST00000511685p.S1446Sc.4338A>CSubstitution - coding silent
HAND2ENSG00000164107ENST00000359562p.E178Gc.533A>GSubstitution - Missense
APODENSG00000189058ENST00000343267p.N165fs*3c.494delADeletion - Frameshift
KCNH8ENSG00000183960ENST00000328405p.R479Gc.1435A>GSubstitution - Missense
CPN2ENSG00000178772ENST00000323830p.R316Cc.946C>TSubstitution - Missense
ATP13A4ENSG00000127249ENST00000342695p.S330Nc.989G>ASubstitution - Missense
IL1RAPENSG00000196083ENST00000072516p.H52Rc.155A>GSubstitution - Missense
CRYGSENSG00000213139ENST00000307944p.N15fs*20c.44delADeletion - Frameshift
CLCN2ENSG00000114859ENST00000265593p.P367Lc.1100C>TSubstitution - Missense
ALG3ENSG00000214160ENST00000445626p.Q177*c.529C>TSubstitution - Nonsense
ECE2ENSG00000145194ENST00000357474p.G640Gc.1920T>CSubstitution - coding silent
ALG3ENSG00000214160ENST00000397676p.Q225*c.673C>TSubstitution - Nonsense
PRRC2BENSG00000130723ENST00000357304p.?c.1211+10C>TUnknown
NUP214ENSG00000126883ENST00000359428p.S760Sc.2280G>ASubstitution - coding silent
ABL1ENSG00000097007ENST00000372348p.A941Vc.2822C>TSubstitution - Missense
ENST00000318560_v70p.A922Vc.2765C>TSubstitution - Missense
B2MENSG00000166710ENST00000544417p.L15fs*41c.37_38delCTDeletion - Frameshift
GRID1ENSG00000182771ENST00000327946p.A744Vc.2231C>TSubstitution - Missense
AOC1ENSG00000002726ENST00000416793p.V233Mc.697G>ASubstitution - Missense
TP53ENSG00000141510ENST00000420246p.P278Hc.833C>ASubstitution - Missense
PAQR8ENSG00000170915ENST00000442253p.L189Lc.565T>CSubstitution - coding silent
PAQR8ENSG00000170915ENST00000442253p.Y247Hc.739T>CSubstitution - Missense
MUTENSG00000146085ENST00000274813p.M186Tc.557T>CSubstitution - Missense
TTBK1ENSG00000146216ENST00000259750p.R1250fs*>72c.3743delCDeletion - Frameshift
DUSP22ENSG00000112679ENST00000344450p.A90Ac.270C>TSubstitution - coding silent
DUSP22ENSG00000112679ENST00000344450p.N126Kc.378C>ASubstitution - Missense
SPDEFENSG00000124664ENST00000374037p.I323Tc.968T>CSubstitution - Missense
IP6K3ENSG00000161896ENST00000451316p.R234Cc.700C>TSubstitution - Missense
RGL2ENSG00000237441ENST00000497454p.S204fs*3c.600_601insGInsertion - Frameshift
TAPBPENSG00000231925ENST00000434618p.A176Ac.528T>CSubstitution - coding silent
NOTCH4ENSG00000204301ENST00000375023p.G1891fs*13c.5672delGDeletion - Frameshift
TNXBENSG00000168477ENST00000375247p.P2179Pc.6537C>TSubstitution - coding silent
TNXBENSG00000168477ENST00000375244p.P2092Pc.6276C>TSubstitution - coding silent
VWA7ENSG00000204396ENST00000375688p.T805Tc.2415T>CSubstitution - coding silent
NM_018695.1p.Q893Qc.2679G>ASubstitution - coding silent
NM_018695.1p.N113fs*5c.333delADeletion - Frameshift
RGS7BPENSG00000186479ENST00000334025p.A86Vc.257C>TSubstitution - Missense
FAM159BENSG00000145642ENST00000389074p.P49Pc.147G>ASubstitution - coding silent
MAP3K1ENSG00000095015ENST00000399503p.I1365Lc.4093A>CSubstitution - Missense
XM_042066p.I1202Lc.3604A>CSubstitution - Missense
KIAA0947ENSG00000164151ENST00000296564p.Q1585Rc.4754A>GSubstitution - Missense
CCL28ENSG00000151882ENST00000361115p.Q2Qc.6G>ASubstitution - coding silent
HNRNPABENSG00000197451ENST00000358344p.D85fs*2c.247delADeletion - Frameshift
N4BP3ENSG00000145911ENST00000274605p.G180Cc.538G>TSubstitution - Missense
ALKBH3ENSG00000166199ENST00000378840p.R64Cc.190C>TSubstitution - Missense
PEX16ENSG00000121680ENST00000378750p.?c.695-1G>AUnknown
CARSENSG00000110619ENST00000401769p.P583Pc.1749G>ASubstitution - coding silent
CARSENSG00000110619ENST00000401769p.F100Lc.298T>CSubstitution - Missense
SIDT2ENSG00000149577ENST00000278951p.P7Sc.19C>TSubstitution - Missense
DRD2ENSG00000149295ENST00000355319p.V59Mc.175G>ASubstitution - Missense
MYOFENSG00000138119ENST00000371502p.T1573Tc.4719G>ASubstitution - coding silent
MINPP1ENSG00000107789ENST00000536010p.H199Yc.595C>TSubstitution - Missense
MYPNENSG00000138347ENST00000540630p.H1052Hc.3156C>TSubstitution - coding silent
IL15RAENSG00000134470ENST00000397255p.T69Tc.207G>ASubstitution - coding silent
BICC1ENSG00000122870ENST00000263103p.H181Rc.542A>GSubstitution - Missense
NCOA4ENSG00000138293ENST00000438493p.K225Kc.675A>GSubstitution - coding silent
NCOA4ENSG00000138293ENST00000431200p.K125Ec.373A>GSubstitution - Missense
ENST00000302418_v70p.D665Yc.1993G>TSubstitution - Missense
CREMENSG00000095794ENST00000395895p.R138Mc.413G>TSubstitution - Missense
C10orf90ENSG00000154493ENST00000544758p.H544Yc.1630C>TSubstitution - Missense
PSTKENSG00000179988ENST00000406217p.G174Sc.520G>ASubstitution - Missense
PSTKENSG00000179988ENST00000405485p.G173Dc.518G>ASubstitution - Missense
VWA2ENSG00000165816ENST00000392982p.G353Vc.1058G>TSubstitution - Missense
NEURL1ENSG00000107954ENST00000369777p.G195Cc.583G>TSubstitution - Missense
MYT1ENSG00000196132ENST00000360149p.R549Hc.1646G>ASubstitution - Missense
ITPKBENSG00000143772ENST00000366784p.P167Lc.500C>TSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366765p.K913Kc.2739A>GSubstitution - coding silent
CDC42BPAENSG00000143776ENST00000441725p.K87Ec.259A>GSubstitution - Missense
PCDHAC1ENSG00000248383ENST00000409700p.S346Lc.1037C>TSubstitution - Missense
NUP214ENSG00000126883ENST00000451030p.S761Sc.2283G>ASubstitution - coding silent
CCDC122ENSG00000151773ENST00000281508p.M122Tc.365T>CSubstitution - Missense
GAS6ENSG00000183087ENST00000355761p.M83Tc.248T>CSubstitution - Missense
MYO16ENSG00000041515ENST00000457511p.?c.1599+3T>CUnknown
PPFIA2ENSG00000139220ENST00000333447p.R96Sc.288G>CSubstitution - Missense
GLIPR1L1ENSG00000173401ENST00000378695p.?c.610+10A>TUnknown
MON2ENSG00000061987ENST00000280379p.S969Sc.2907A>GSubstitution - coding silent
MCRS1ENSG00000187778ENST00000550165p.F57Fc.171C>TSubstitution - coding silent
MCRS1ENSG00000187778ENST00000549528p.F61Fc.183C>TSubstitution - coding silent
ITFG2ENSG00000111203ENST00000542548p.C167Yc.500G>ASubstitution - Missense
EP400ENSG00000183495ENST00000333577p.?c.7309-4G>AUnknown
ANKLE2ENSG00000176915ENST00000337516p.P266Pc.798A>GSubstitution - coding silent
EP400ENSG00000183495ENST00000333577p.R1976Rc.5928T>CSubstitution - coding silent
PITPNM2ENSG00000090975ENST00000280562p.G1010Sc.3028G>ASubstitution - Missense
MLXIPENSG00000175727ENST00000377037p.A150Vc.449C>TSubstitution - Missense
KSR2ENSG00000171435ENST00000339824p.R102Hc.305G>ASubstitution - Missense
ACAD10ENSG00000111271ENST00000455480p.L697Lc.2091G>ASubstitution - coding silent
FAT3ENSG00000165323ENST00000541502p.I644Ic.1932T>ASubstitution - coding silent
BSCL2ENSG00000168000ENST00000433053p.A73Vc.218C>TSubstitution - Missense
UBE2L6ENSG00000156587ENST00000287156p.V79Mc.235G>ASubstitution - Missense
TNKS1BP1ENSG00000149115ENST00000358252p.V1087Vc.3261C>TSubstitution - coding silent
TNKS1BP1ENSG00000149115ENST00000358252p.G1058Gc.3174A>GSubstitution - coding silent
TNKS1BP1ENSG00000149115ENST00000358252p.F998Vc.2992T>GSubstitution - Missense
OR5J2ENSG00000174957ENST00000312298p.H290Rc.869A>GSubstitution - Missense
OR5AS1ENSG00000181785ENST00000313555p.I324Vc.970A>GSubstitution - Missense
TRIM48ENSG00000150244ENST00000417545p.A208Vc.623C>TSubstitution - Missense
NM_024114.2p.A192Vc.575C>TSubstitution - Missense
OR51B6ENSG00000176239ENST00000380219p.M274Tc.821T>CSubstitution - Missense
KBTBD4ENSG00000123444ENST00000430070p.A227Ac.681C>ASubstitution - coding silent
DNAJC6ENSG00000116675ENST00000371069p.W787Rc.2359T>CSubstitution - Missense
PLEKHG5ENSG00000171680ENST00000535355p.R519Cc.1555C>TSubstitution - Missense
SLC2A1ENSG00000117394ENST00000439722p.R169Cc.505C>TSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.?c.1524-7A>GUnknown
SERINC2ENSG00000168528ENST00000373710p.T153Ac.457A>GSubstitution - Missense
HCRTR1ENSG00000121764ENST00000373705p.E204Ec.612A>GSubstitution - coding silent
FAM76AENSG00000009780ENST00000010299p.K174Rc.521A>GSubstitution - Missense
MYOM3ENSG00000142661ENST00000329601p.D1098Gc.3293A>GSubstitution - Missense
PLD5ENSG00000180287ENST00000427495p.V8Ac.23T>CSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.K4098Nc.12294G>TSubstitution - Missense
ACTN2ENSG00000077522ENST00000542672p.A35Sc.103G>TSubstitution - Missense
PSEN2ENSG00000143801ENST00000391872p.G67Dc.200G>ASubstitution - Missense
CDC42BPAENSG00000143776ENST00000366765p.R1626Rc.4878C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.P2458Lc.7373C>TSubstitution - Missense
ENST00000295713_v70p.N547Sc.1640A>GSubstitution - Missense
RNPEPENSG00000176393ENST00000447312p.T142Tc.426A>CSubstitution - coding silent
LGR6ENSG00000133067ENST00000439764p.E181Dc.543G>CSubstitution - Missense
CAMSAP2ENSG00000118200ENST00000236925p.H582Rc.1745A>GSubstitution - Missense
UBR4ENSG00000127481ENST00000375267p.T2534Ic.7601C>TSubstitution - Missense
UBR4ENSG00000127481ENST00000375267p.H1892Rc.5675A>GSubstitution - Missense
UBR4ENSG00000127481ENST00000375267p.K5161Nc.15483A>CSubstitution - Missense
UBR4ENSG00000127481ENST00000375225p.K215Nc.645A>CSubstitution - Missense
ENST00000367531p.R298Qc.893G>ASubstitution - Missense
TDRD5ENSG00000162782ENST00000444136p.T904Ac.2710A>GSubstitution - Missense
PADI2ENSG00000117115ENST00000375486p.M514Ic.1542G>ASubstitution - Missense
FCRLAENSG00000132185ENST00000540926p.A362Ac.1086T>CSubstitution - coding silent
FHAD1ENSG00000142621ENST00000358897p.R1158*c.3472C>TSubstitution - Nonsense
ARHGEF2ENSG00000116584ENST00000368315p.G478Dc.1433G>ASubstitution - Missense
UBAP2LENSG00000143569ENST00000271877p.G722Ec.2165G>ASubstitution - Missense
ADAMTSL4ENSG00000143382ENST00000369041p.L341Lc.1023G>ASubstitution - coding silent
SDK2ENSG00000069188ENST00000392650p.A607Vc.1820C>TSubstitution - Missense
AKAP1ENSG00000121057ENST00000314126p.S309Gc.925A>GSubstitution - Missense
ENST00000360085_v70p.?c.189-7C>TUnknown
STAT5AENSG00000126561ENST00000452307p.R775Rc.2325C>TSubstitution - coding silent
MYO1CENSG00000197879ENST00000359786p.V999Ac.2996T>CSubstitution - Missense
ENST00000316490p.D2446Dc.7338C>TSubstitution - coding silent
CENPTENSG00000102901ENST00000445712p.D115Dc.345C>TSubstitution - coding silent
ENST00000254108_v70p.G256Rc.766G>ASubstitution - Missense
ENST00000254108_v70p.G488Dc.1463G>ASubstitution - Missense
ATXN2LENSG00000168488ENST00000325215p.V857Ic.2569G>ASubstitution - Missense
ATXN2LENSG00000168488ENST00000340394p.V857Ic.2569G>ASubstitution - Missense
FLYWCH1ENSG00000059122ENST00000399667p.A308Tc.922G>ASubstitution - Missense
OTOAENSG00000155719ENST00000286149p.S462Ic.1385G>TSubstitution - Missense
SU_SMG1p.L361Lc.1083G>ASubstitution - coding silent
CACNA1HENSG00000196557ENST00000348261p.I1232Vc.3694A>GSubstitution - Missense
SIN3AENSG00000169375ENST00000567289p.R19Wc.55C>TSubstitution - Missense
UBE2Q2ENSG00000140367ENST00000561851p.Y339Hc.1015T>CSubstitution - Missense
PMLENSG00000140464ENST00000569477p.A300Vc.899C>TSubstitution - Missense
MYO9AENSG00000066933ENST00000424560p.E1005Ec.3015G>ASubstitution - coding silent
CEP128ENSG00000100629ENST00000327841p.R31Wc.91C>TSubstitution - Missense
EML5ENSG00000165521ENST00000352093p.H357Rc.1070A>GSubstitution - Missense
SYNE2ENSG00000054654ENST00000357395p.Q3047Pc.9140A>CSubstitution - Missense
L2HGDHENSG00000087299ENST00000261699p.L5Rc.14T>GSubstitution - Missense
MIPOL1ENSG00000151338ENST00000545536p.R367Qc.1100G>ASubstitution - Missense
RALGAPA1ENSG00000174373ENST00000258840p.R1554Cc.4660C>TSubstitution - Missense
RALGAPA1ENSG00000174373ENST00000258840p.T294Ac.880A>GSubstitution - Missense
ENST00000392554_v70p.S300Pc.898T>CSubstitution - Missense
ENSG00000117600ENST00000370184p.G552Gc.1656C>TSubstitution - coding silent
ODF2LENSG00000122417ENST00000359242p.C327Fc.980G>TSubstitution - Missense
LPHN2ENSG00000117114ENST00000449420p.?c.1424+5C>GUnknown
LPHN2ENSG00000117114ENST00000370721p.C72Yc.215G>ASubstitution - Missense
LPHN2ENSG00000117114ENST00000370715p.C72Yc.215G>ASubstitution - Missense
ENST00000263187_v70p.S68Sc.204C>TSubstitution - coding silent
ABHD12ENSG00000100997ENST00000450393p.R26Cc.76C>TSubstitution - Missense
ZNF557ENSG00000130544ENST00000252840p.Q268*c.802C>TSubstitution - Nonsense
MAP2K7ENSG00000076984ENST00000545011p.?c.124+2T>CUnknown
TRIP10ENSG00000125733ENST00000596758p.V374Ac.1121T>CSubstitution - Missense
ENSG00000268948ENST00000597520p.G3Sc.7G>ASubstitution - Missense
KIR2DL3ENSG00000243772ENST00000434419p.H106Rc.317A>GSubstitution - Missense
ZNF841ENSG00000197608ENST00000389534p.Q626Rc.1877A>GSubstitution - Missense
ZNF841ENSG00000197608ENST00000359973p.Q67Rc.200A>GSubstitution - Missense
PLA2G4CENSG00000105499ENST00000599111p.T411Tc.1233G>ASubstitution - coding silent
ARHGAP35ENSG00000160007ENST00000404338p.G1131Rc.3391G>ASubstitution - Missense
EML2ENSG00000125746ENST00000536630p.P558Tc.1672C>ASubstitution - Missense
ARHGAP33ENSG00000004777ENST00000378944p.R748Hc.2243G>ASubstitution - Missense
ATP13A1ENSG00000105726ENST00000291503p.?c.2278+4A>GUnknown
EPS15L1ENSG00000127527ENST00000455140p.S306Lc.917C>TSubstitution - Missense
CYP4F3ENSG00000186529ENST00000585846p.C206Rc.616T>CSubstitution - Missense
MRPL4ENSG00000105364ENST00000590669p.Y209Cc.626A>GSubstitution - Missense
PTPRMENSG00000173482ENST00000400060p.G269Rc.805G>ASubstitution - Missense
CLUL1ENSG00000079101ENST00000338387p.?c.1398-8T>AUnknown
MAPRE2ENSG00000166974ENST00000588910p.I115Ic.345T>CSubstitution - coding silent
DTNAENSG00000134769ENST00000269191p.C258Cc.774C>TSubstitution - coding silent
DNAH17ENSG00000187775ENST00000389840p.R2571Hc.7712G>ASubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.G4085Gc.12255C>TSubstitution - coding silent
DNAH17ENSG00000187775ENST00000389840p.N3906Nc.11718C>TSubstitution - coding silent
SEPT9ENSG00000184640ENST00000423034p.K284Tc.851A>CSubstitution - Missense
ZACNENSG00000186919ENST00000392503p.G14Ac.41G>CSubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.V1518Mc.4552G>ASubstitution - Missense
ZNF514ENSG00000144026ENST00000295208p.?c.218-10T>AUnknown
DNAH6ENSG00000115423ENST00000398278p.Q2374Rc.7121A>GSubstitution - Missense
DYSFENSG00000135636ENST00000258104p.D215Nc.643G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000402717p.K666Nc.1998G>TSubstitution - Missense
KIF1AENSG00000130294ENST00000498729p.P1071Pc.3213A>CSubstitution - coding silent
AP1S3ENSG00000152056ENST00000423110p.A70Ac.210A>GSubstitution - coding silent
TTNENSG00000155657ENST00000360870p.?c.10361-9T>CUnknown
SMC6ENSG00000163029ENST00000381272p.D406Dc.1218T>CSubstitution - coding silent
ITGA6ENSG00000091409ENST00000264106p.I418Ic.1254T>CSubstitution - coding silent
ENST00000263817_v70p.E197Vc.590A>TSubstitution - Missense
DHRS9ENSG00000073737ENST00000432060p.K255Rc.764A>GSubstitution - Missense
ENST00000263817_v70p.T1029Tc.3087A>GSubstitution - coding silent
SCN2AENSG00000136531ENST00000375427p.R630Cc.1888C>TSubstitution - Missense
SCN2AENSG00000136531ENST00000375437p.R630Cc.1888C>TSubstitution - Missense
COBLL1ENSG00000082438ENST00000194871p.G618Dc.1853G>ASubstitution - Missense
NR4A2ENSG00000153234ENST00000539077p.R236Hc.707G>ASubstitution - Missense
ARHGEF4ENSG00000136002ENST00000355771p.A191Tc.571G>ASubstitution - Missense
CLASP1ENSG00000074054ENST00000397587p.G70Gc.210C>TSubstitution - coding silent
STEAP3ENSG00000115107ENST00000409811p.V235Ic.703G>ASubstitution - Missense
MERTKENSG00000153208ENST00000295408p.?c.1450+1G>AUnknown
RANBP2ENSG00000153201ENST00000283195p.K1886Nc.5658A>CSubstitution - Missense
DEPDC5ENSG00000100150ENST00000400246p.V1218Mc.3652G>ASubstitution - Missense
PPIL2ENSG00000100023ENST00000412327p.R427Hc.1280G>ASubstitution - Missense
DGCR2ENSG00000070413ENST00000545799p.G71Rc.211G>CSubstitution - Missense
ICOSLGENSG00000160223ENST00000344330p.I259Vc.775A>GSubstitution - Missense
RUNX1ENSG00000159216ENST00000486278p.G103Dc.308G>ASubstitution - Missense
PLCB4ENSG00000101333ENST00000378473p.V181Ac.542T>CSubstitution - Missense
KCNQ2ENSG00000075043ENST00000359689p.P669Pc.2007G>ASubstitution - coding silent
RTFDC1ENSG00000022277ENST00000357348p.A235Tc.703G>ASubstitution - Missense
PTPRTENSG00000196090ENST00000373184p.S824Sc.2472C>TSubstitution - coding silent
ZNF566ENSG00000186017ENST00000454319p.K310fs*>110c.930delADeletion - Frameshift
DHX40ENSG00000108406ENST00000451169p.?c.1280+3_1280+10delaaaaaaaaUnknown
PMLENSG00000140464ENST00000569477p.E551fs*8c.1648delGDeletion - Frameshift
RHBDF1ENSG00000007384ENST00000454039p.E457delEc.1369_1371delGAGDeletion - In frame
MTA1ENSG00000182979ENST00000435036p.G178fs*11c.527delGDeletion - Frameshift
TCEANC2ENSG00000116205ENST00000371331p.N164fs*12c.487delADeletion - Frameshift
NFIAENSG00000162599ENST00000371191p.F246fs*6c.734delTDeletion - Frameshift
DOCK7ENSG00000116641ENST00000251157p.F473fs*8c.1419delTDeletion - Frameshift
DOCK7ENSG00000116641ENST00000404627p.F473fs*8c.1419delTDeletion - Frameshift
SGIP1ENSG00000118473ENST00000237247p.P359fs*22c.1071delCDeletion - Frameshift
SEMA6CENSG00000143434ENST00000368913p.G378fs*16c.1133delGDeletion - Frameshift
FAT3ENSG00000165323ENST00000541502p.L926fs*1c.2771delTDeletion - Frameshift
SLC43A3ENSG00000134802ENST00000395123p.H212fs*77c.633delGDeletion - Frameshift
KCNMA1ENSG00000156113ENST00000404771p.Y613fs*7c.1830_1831insTInsertion - Frameshift
SLC16A12ENSG00000152779ENST00000371790p.F73fs*22c.219delTDeletion - Frameshift
MYOFENSG00000138119ENST00000371502p.F241fs*11c.723delTDeletion - Frameshift
ST8SIA6ENSG00000148488ENST00000440449p.E70fs*43c.206_207insAInsertion - Frameshift
KLHL5ENSG00000109790ENST00000359687p.Q719Hc.2157G>TSubstitution - Missense
KLHL5ENSG00000109790ENST00000381930p.Q719Hc.2157G>TSubstitution - Missense
GPR125ENSG00000152990ENST00000508133p.Y319Hc.955T>CSubstitution - Missense
ANK2ENSG00000145362ENST00000506722p.R1474Qc.4421G>ASubstitution - Missense
DAPP1ENSG00000070190ENST00000512369p.?c.687-6T>CUnknown
GNAI2ENSG00000114353ENST00000266027p.V164Ac.491T>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T1391Mc.4172C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A4217Tc.12649G>ASubstitution - Missense
ENST00000405167p.A4217Tc.12649G>ASubstitution - Missense
DHX36ENSG00000174953ENST00000544526p.G39Gc.117C>ASubstitution - coding silent
PPP2R2BENSG00000156475ENST00000504198p.T228Mc.683C>TSubstitution - Missense
PRRC1ENSG00000164244ENST00000512635p.P170Hc.509C>ASubstitution - Missense
DDX60LENSG00000181381ENST00000505890p.R545Wc.1633C>TSubstitution - Missense
AP1S3ENSG00000152056ENST00000446015p.A70Ac.210A>GSubstitution - coding silent
SLC30A3ENSG00000115194ENST00000447008p.S33Tc.97T>ASubstitution - Missense
VPS9D1ENSG00000075399ENST00000389386p.E551Dc.1653G>TSubstitution - Missense
PIEZO1ENSG00000103335ENST00000327397p.K31Nc.93A>CSubstitution - Missense
UCHL5ENSG00000116750ENST00000367449p.W58*c.174G>ASubstitution - Nonsense
ENST00000378024_v70p.A2229Vc.6686C>TSubstitution - Missense
MAP3K15ENSG00000180815ENST00000338883p.E1198fs*12c.3591delADeletion - Frameshift
UTP14AENSG00000156697ENST00000371042p.Q596fs*>9c.1785_1786insAInsertion - Frameshift
CNTLNENSG00000044459ENST00000262360p.E1127delEc.3374_3376delAAGDeletion - In frame
CRB2ENSG00000148204ENST00000359999p.R69fs*73c.202delCDeletion - Frameshift
EIF2AK1ENSG00000086232ENST00000536084p.I74fs*2c.220delADeletion - Frameshift
RABGEF1ENSG00000154710ENST00000437078p.P343fs*19c.1023delCDeletion - Frameshift
TFECENSG00000105967ENST00000393485p.K112fs*42c.335delADeletion - Frameshift
RGL2ENSG00000237441ENST00000444031p.S122fs*3c.354_355insGInsertion - Frameshift
ENST00000416621p.R57fs*10c.171delADeletion - Frameshift
BCAP29ENSG00000075790ENST00000379121p.R66fs*3c.192delADeletion - Frameshift
JARID2ENSG00000008083ENST00000541660p.R387fs*36c.1152delGDeletion - Frameshift
ZNF131ENSG00000172262ENST00000399534p.R145fs*26c.427delADeletion - Frameshift
ERBB2IPENSG00000112851ENST00000380943p.N113fs*5c.333delADeletion - Frameshift
MAST4ENSG00000069020ENST00000403666p.F138delFc.411_413delCTTDeletion - In frame
FCHO2ENSG00000157107ENST00000287761p.N15fs*11c.38delADeletion - Frameshift
ANK2ENSG00000145362ENST00000506722p.G33fs*2c.93delGDeletion - Frameshift
IFRD2ENSG00000214706ENST00000429673p.D126fs*16c.376delGDeletion - Frameshift
C3orf67ENSG00000163689ENST00000482387p.S243fs*39c.727delADeletion - Frameshift
KIAA1407ENSG00000163617ENST00000545063p.N218fs*32c.653delADeletion - Frameshift
FGF12ENSG00000114279ENST00000445105p.S164fs*7c.490delADeletion - Frameshift
TRIP12ENSG00000153827ENST00000543084p.K133fs*26c.399delADeletion - Frameshift
LCLAT1ENSG00000172954ENST00000319406p.N222fs*21c.659delADeletion - Frameshift
CBLBENSG00000114423ENST00000394027p.N857fs*71c.2570delADeletion - Frameshift
KCNQ2ENSG00000075043ENST00000359689p.A381fs*8c.1141delGDeletion - Frameshift
CACNA1IENSG00000100346ENST00000400164p.F1282delFc.3840_3842delCTTDeletion - In frame
ZNF628ENSG00000197483ENST00000598519p.Q242fs*185c.718delCDeletion - Frameshift
MUC12ENSG00000205277ENST00000379442p.S1837Nc.5510G>ASubstitution - Missense
DOPEY1ENSG00000083097ENST00000237163p.V467Mc.1399G>ASubstitution - Missense
FILIP1ENSG00000118407ENST00000393004p.Q1153Qc.3459G>ASubstitution - coding silent
PHF3ENSG00000118482ENST00000262043p.E455Ac.1364A>CSubstitution - Missense
MCM3ENSG00000112118ENST00000596288p.A349Pc.1045G>CSubstitution - Missense
MCM3ENSG00000112118ENST00000596288p.E117Ec.351G>ASubstitution - coding silent
COL21A1ENSG00000124749ENST00000535941p.G907Dc.2720G>ASubstitution - Missense
PTCHD4ENSG00000244694ENST00000543600p.E67Ec.201G>ASubstitution - coding silent
DNAH8ENSG00000124721ENST00000449981p.G3762Dc.11285G>ASubstitution - Missense
ENST00000377325_v70p.L19Pc.56T>CSubstitution - Missense
NRSN1ENSG00000152954ENST00000378477p.L150Pc.449T>CSubstitution - Missense
ERMARDENSG00000130023ENST00000366772p.M353Vc.1057A>GSubstitution - Missense
MTHFD1LENSG00000120254ENST00000420192p.V26Fc.76G>TSubstitution - Missense
MED23ENSG00000112282ENST00000403834p.T1053Sc.3158C>GSubstitution - Missense
IFNGR1ENSG00000027697ENST00000367735p.I133Vc.397A>GSubstitution - Missense
CEP85LENSG00000111860ENST00000419517p.Q421Qc.1263A>GSubstitution - coding silent
SLC22A16ENSG00000004809ENST00000439654p.V444Ac.1331T>CSubstitution - Missense
SLC22A16ENSG00000004809ENST00000330550p.V400Ac.1199T>CSubstitution - Missense
SLC22A16ENSG00000004809ENST00000439654p.A408Tc.1222G>ASubstitution - Missense
CD164ENSG00000135535ENST00000413644p.?c.332-6T>AUnknown
MCTP1ENSG00000175471ENST00000312216p.S492Pc.1474T>CSubstitution - Missense
ERBB2IPENSG00000112851ENST00000284037p.Q893Qc.2679G>ASubstitution - coding silent
RAI14ENSG00000039560ENST00000397449p.T773Tc.2319T>CSubstitution - coding silent
BTNL9ENSG00000165810ENST00000376841p.P63Sc.187C>TSubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.N2216Dc.6646A>GSubstitution - Missense
PPP2R2BENSG00000156475ENST00000504198p.S291Lc.872C>TSubstitution - Missense
NCS1ENSG00000107130ENST00000458469p.V131Ac.392T>CSubstitution - Missense
RALGPS1ENSG00000136828ENST00000394022p.I268Vc.802A>GSubstitution - Missense
DENND1AENSG00000119522ENST00000373620p.?c.1299+1G>AUnknown
ENST00000373851p.A431Dc.1292C>ASubstitution - Missense
ENST00000259410p.M575Ic.1725G>ASubstitution - Missense
CBWD1ENSG00000172785ENST00000314367p.N327Ic.980A>TSubstitution - Missense
ZBTB10ENSG00000205189ENST00000379091p.N217Yc.649A>TSubstitution - Missense
TMEM67ENSG00000164953ENST00000409623p.A457Tc.1369G>ASubstitution - Missense
TMEM67ENSG00000164953ENST00000409623p.E598Vc.1793A>TSubstitution - Missense
TRPA1ENSG00000104321ENST00000262209p.S340Sc.1020T>CSubstitution - coding silent
PROSCENSG00000147471ENST00000328195p.R63Hc.188G>ASubstitution - Missense
PLECENSG00000178209ENST00000354589p.R596Qc.1787G>ASubstitution - Missense
PLECENSG00000178209ENST00000356346p.R582Qc.1745G>ASubstitution - Missense
PLECENSG00000178209ENST00000354589p.A1278Tc.3832G>ASubstitution - Missense
PLECENSG00000178209ENST00000356346p.A1264Tc.3790G>ASubstitution - Missense
PLECENSG00000178209ENST00000354589p.T1062Mc.3185C>TSubstitution - Missense
PLECENSG00000178209ENST00000356346p.T1048Mc.3143C>TSubstitution - Missense
PLECENSG00000178209ENST00000356346p.R4114Wc.12340C>TSubstitution - Missense
EEF1DENSG00000104529ENST00000423316p.Q78Qc.234G>ASubstitution - coding silent
MTSS1ENSG00000170873ENST00000378017p.R300Hc.899G>ASubstitution - Missense
MTSS1ENSG00000170873ENST00000378017p.R134Cc.400C>TSubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.?c.12343-6T>GUnknown
OXR1ENSG00000164830ENST00000517566p.P161Pc.483T>GSubstitution - coding silent
GRM3ENSG00000198822ENST00000394720p.A291Vc.872C>TSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.H1262Hc.3786T>CSubstitution - coding silent
CACNA2D1ENSG00000153956ENST00000356253p.L7Lc.19C>TSubstitution - coding silent
LIMK1ENSG00000106683ENST00000538333p.T386Tc.1158G>ASubstitution - coding silent
PLEKHA8ENSG00000106086ENST00000396257p.R442Qc.1325G>ASubstitution - Missense
DENND2AENSG00000146966ENST00000492720p.R36Rc.108A>GSubstitution - coding silent
CRYL1ENSG00000165475ENST00000298248p.A45Tc.133G>ASubstitution - Missense
ARHGAP28ENSG00000088756ENST00000400091p.F355fs*8c.1060delTDeletion - Frameshift
SUPT3HENSG00000196284ENST00000371459p.E121Kc.361G>ASubstitution - Missense
OR7D4ENSG00000174667ENST00000308682p.A116Ac.348C>TSubstitution - coding silent
FAM90A1ENSG00000171847ENST00000307435p.P34Pc.102G>ASubstitution - coding silent
RIPK4ENSG00000183421ENST00000332512p.G670Cc.2008G>TSubstitution - Missense
TAF1LENSG00000122728ENST00000242310p.E248Kc.742G>ASubstitution - Missense
FOLH1ENSG00000086205ENST00000256999p.S501fs*12c.1501delADeletion - Frameshift
UBR5ENSG00000104517ENST00000520539p.E2121fs*28c.6360delADeletion - Frameshift
DIAPH2ENSG00000147202ENST00000373049p.?c.342+7T>CUnknown
PHF8ENSG00000172943ENST00000338946p.P807Hc.2420C>ASubstitution - Missense
GATA1ENSG00000102145ENST00000376665p.N226Dc.676A>GSubstitution - Missense
HDAC6ENSG00000094631ENST00000413163p.L64Pc.191T>CSubstitution - Missense
UBA1ENSG00000130985ENST00000451702p.R178Wc.532C>TSubstitution - Missense
MAP3K15ENSG00000180815ENST00000338883p.R798Cc.2392C>TSubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.V1789Ac.5366T>CSubstitution - Missense
WWC3ENSG00000047644ENST00000380861p.N984Nc.2952T>CSubstitution - coding silent
FAM120AENSG00000048828ENST00000333936p.V448Mc.1342G>ASubstitution - Missense
FAM120AENSG00000048828ENST00000333936p.R1132Cc.3394C>TSubstitution - Missense
IARSENSG00000196305ENST00000375629p.Y135Cc.404A>GSubstitution - Missense
PCSK5ENSG00000099139ENST00000424854p.R830Cc.2488C>TSubstitution - Missense
ABHD17BENSG00000107362ENST00000377041p.A245Tc.733G>ASubstitution - Missense
ENST00000381532_v70p.?c.1755+2T>CUnknown
UNC13BENSG00000198722ENST00000396787p.R272Gc.814A>GSubstitution - Missense
ENST00000329762p.Y199Hc.595T>CSubstitution - Missense
NFX1ENSG00000086102ENST00000318524p.A491Ac.1473T>CSubstitution - coding silent
CBWD1ENSG00000172785ENST00000314367p.?c.323-1G>CUnknown
NPDC1ENSG00000107281ENST00000371600p.L349Pc.1046T>CSubstitution - Missense
GRIN1ENSG00000176884ENST00000315048p.G827Rc.2479G>ASubstitution - Missense
LCN10ENSG00000187922ENST00000474369p.H33Hc.99C>TSubstitution - coding silent
KCNT1ENSG00000107147ENST00000263604p.I290Vc.868A>GSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.S823Sc.2469G>ASubstitution - coding silent
PNLIPRP1ENSG00000187021ENST00000358834p.N139Sc.416A>GSubstitution - Missense
ECHS1ENSG00000127884ENST00000368547p.I229fs*8c.685delADeletion - Frameshift
ZNF839ENSG00000022976ENST00000442396p.R419*c.1255C>TSubstitution - Nonsense
CHD8ENSG00000100888ENST00000399982p.K443fs*23c.1328delADeletion - Frameshift
ZSCAN2ENSG00000176371ENST00000448803p.S318Sc.954T>CSubstitution - coding silent
NTRK3ENSG00000140538ENST00000394480p.Y604Cc.1811A>GSubstitution - Missense
TROAPENSG00000135451ENST00000257909p.V24Ac.71T>CSubstitution - Missense
SLCO1B7ENSG00000205754ENST00000421593p.P84Tc.250C>ASubstitution - Missense
POLEENSG00000177084ENST00000320574p.?c.1686+6C>TUnknown
SORL1ENSG00000137642ENST00000260197p.?c.5166+9C>TUnknown
SEMA4AENSG00000196189ENST00000368285p.F115Lc.343T>CSubstitution - Missense
CCSER2ENSG00000107771ENST00000372088p.S985fs*15c.2952_2953insCCInsertion - Frameshift
ENST00000330762p.T280Ac.838A>GSubstitution - Missense
ENST00000224764p.L59fs*1c.171delTDeletion - Frameshift
ENST00000328974p.N184Nc.552C>TSubstitution - coding silent
SPRYD3ENSG00000167778ENST00000301463p.C429Cc.1287C>TSubstitution - coding silent
PIGRENSG00000162896ENST00000356495p.L286Pc.857T>CSubstitution - Missense
NM_053025p.E1066Vc.3197A>TSubstitution - Missense
C4BPBENSG00000123843ENST00000367076p.E182Ec.546G>ASubstitution - coding silent
PSEN2ENSG00000143801ENST00000366783p.G34Dc.101G>ASubstitution - Missense
HHIPL2ENSG00000143512ENST00000343410p.G557fs*7c.1664_1665insCInsertion - Frameshift
UPF3AENSG00000169062ENST00000375299p.K266fs*4c.790_791delAADeletion - Frameshift
EIF3MENSG00000149100ENST00000531120p.K161fs*5c.476delADeletion - Frameshift
CEP170BENSG00000099814ENST00000414716p.A1303Vc.3908C>TSubstitution - Missense
LCLAT1ENSG00000172954ENST00000309052p.N222fs*21c.659delADeletion - Frameshift
BAG4ENSG00000156735ENST00000287322p.G456fs*>2c.1358delADeletion - Frameshift
TEX10ENSG00000136891ENST00000374902p.R5fs*10c.13delADeletion - Frameshift
ABCA10ENSG00000154263ENST00000269081p.K31fs*18c.93delADeletion - Frameshift
ENST00000260373p.L127fs*22c.378_379insAInsertion - Frameshift
ARID4AENSG00000032219ENST00000355431p.N515Ic.1544A>TSubstitution - Missense
CATSPERBENSG00000133962ENST00000256343p.S272Sc.816A>GSubstitution - coding silent
ASH1LENSG00000116539ENST00000392403p.T192Tc.576G>ASubstitution - coding silent
PM20D1ENSG00000162877ENST00000367136p.T426Ac.1276A>GSubstitution - Missense
ELK4ENSG00000158711ENST00000357992p.L386Lc.1156C>TSubstitution - coding silent
ATP2B4ENSG00000058668ENST00000357681p.E671Dc.2013G>TSubstitution - Missense
TCF12ENSG00000140262ENST00000438423p.R274Hc.821G>ASubstitution - Missense
AURKAIP1ENSG00000175756ENST00000378853p.A180Vc.539C>TSubstitution - Missense
ERC1ENSG00000082805ENST00000397203p.R631Cc.1891C>TSubstitution - Missense
DRD2ENSG00000149295ENST00000362072p.V59Mc.175G>ASubstitution - Missense
LRRC23ENSG00000010626ENST00000007969p.E100Ec.300G>ASubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.Y3932*c.11796C>ASubstitution - Nonsense
MMP20ENSG00000137674ENST00000260228p.?c.375-10G>AUnknown
HINFPENSG00000172273ENST00000350777p.L419Pc.1256T>CSubstitution - Missense
MUC2ENSG00000198788ENST00000441003p.D606Nc.1816G>ASubstitution - Missense
EIF3MENSG00000149100ENST00000531120p.H238Rc.713A>GSubstitution - Missense
NAV2ENSG00000166833ENST00000360655p.S859Sc.2577T>CSubstitution - coding silent
PAX6ENSG00000007372ENST00000419022p.A93Vc.278C>TSubstitution - Missense
ISM2ENSG00000100593ENST00000342219p.E221Kc.661G>ASubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.P2191fs*20c.6568delCDeletion - Frameshift
CACNA1HENSG00000196557ENST00000358590p.V1299Mc.3895G>ASubstitution - Missense
SU_KSR2p.R134Hc.401G>ASubstitution - Missense
CITENSG00000122966ENST00000392521p.E1994Dc.5982G>TSubstitution - Missense
HNF1AENSG00000135100ENST00000543427p.G175fs*25c.521_522insCInsertion - Frameshift
POGZENSG00000143442ENST00000491586p.L1256Lc.3766C>TSubstitution - coding silent
OTUD7BENSG00000163113ENST00000369135p.R85Qc.254G>ASubstitution - Missense
FLGENSG00000143631ENST00000368799p.R2403Wc.7207C>TSubstitution - Missense
CCDC19ENSG00000213085ENST00000368099p.R411Wc.1231C>TSubstitution - Missense
C1orf110ENSG00000185860ENST00000367910p.?c.187+4A>TUnknown
COL8A2ENSG00000171812ENST00000397799p.A416fs*13c.1246_1247insGInsertion - Frameshift
ADCENSG00000142920ENST00000398167p.L175Pc.524T>CSubstitution - Missense
EPB41ENSG00000159023ENST00000343067p.A502Vc.1505C>TSubstitution - Missense
KIAA1522ENSG00000162522ENST00000401073p.R246Wc.736C>TSubstitution - Missense
BAIAP2L1ENSG00000006453ENST00000005260p.Y156Hc.466T>CSubstitution - Missense
PLECENSG00000178209ENST00000354958p.R574Qc.1721G>ASubstitution - Missense
ZNF34ENSG00000196378ENST00000343459p.E293Kc.877G>ASubstitution - Missense
KLHDC8BENSG00000185909ENST00000332780p.L158Lc.474A>GSubstitution - coding silent
TLR9ENSG00000239732ENST00000360658p.F414Fc.1242C>TSubstitution - coding silent
RNF123ENSG00000164068ENST00000327697p.A191Ac.573G>ASubstitution - coding silent
PDS5AENSG00000121892ENST00000303538p.?c.4010+8A>GUnknown
SRCIN1ENSG00000017373ENST00000264659p.M16fs*44c.45delCDeletion - Frameshift
ROBO2ENSG00000185008ENST00000487694p.V1095fs*22c.3281_3282insCInsertion - Frameshift
ENST00000342938p.E124Ec.372A>GSubstitution - coding silent
CLUHENSG00000132361ENST00000435359p.I721Ic.2163C>ASubstitution - coding silent
SEBOX,VTNENSG00000109072ENST00000226218p.P205Pc.615C>TSubstitution - coding silent
PTK2BENSG00000120899ENST00000544172p.E496Gc.1487A>GSubstitution - Missense
ANKRD20A4ENSG00000172014ENST00000357336p.N459fs*5c.1369delADeletion - Frameshift
FLNCENSG00000128591ENST00000325888p.R2173Cc.6517C>TSubstitution - Missense
TEKENSG00000120156ENST00000380036p.V462Ac.1385T>CSubstitution - Missense
CCDC107ENSG00000159884ENST00000426546p.D216Gc.647A>GSubstitution - Missense
LINGO2ENSG00000174482ENST00000379992p.G479Rc.1435G>ASubstitution - Missense
XM_291314.4p.C174Rc.520T>CSubstitution - Missense
TRPM4ENSG00000130529ENST00000252826p.A145Tc.433G>ASubstitution - Missense
ENST00000312881p.P614Pc.1842G>ASubstitution - coding silent
GALR2ENSG00000182687ENST00000329003p.R209Gc.625C>GSubstitution - Missense
DMRT3ENSG00000064218ENST00000190165p.N248fs*6c.743_744insAInsertion - Frameshift
TNRC6CENSG00000078687ENST00000301624p.N24Sc.71A>GSubstitution - Missense
TDRD15ENSG00000218819ENST00000405799p.R500Hc.1499G>ASubstitution - Missense
AGPAT5ENSG00000155189ENST00000285518p.Y69Cc.206A>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.P3362Lc.10085C>TSubstitution - Missense
ENST00000356127p.P3408Lc.10223C>TSubstitution - Missense
INO80DENSG00000114933ENST00000403263p.K428Nc.1284A>CSubstitution - Missense
NM_022459.3p.T1097Ac.3289A>GSubstitution - Missense
SACSENSG00000151835ENST00000382298p.S3975Rc.11923A>CSubstitution - Missense
IRX1ENSG00000170549ENST00000302006p.H344Yc.1030C>TSubstitution - Missense
SLC35G2ENSG00000168917ENST00000446465p.L361Sc.1082T>CSubstitution - Missense
ZNF48ENSG00000180035ENST00000320159p.C336Yc.1007G>ASubstitution - Missense
RAB6CENSG00000222014ENST00000410061p.S247Sc.741A>GSubstitution - coding silent
NM_001371.1p.H1759Hc.5277T>CSubstitution - coding silent
CELSR1ENSG00000075275ENST00000262738p.G1433Gc.4299C>TSubstitution - coding silent
ATP2C1ENSG00000017260ENST00000359644p.A26fs*21c.69delADeletion - Frameshift
CCT4ENSG00000115484ENST00000394440p.E479fs*15c.1435_1436delGADeletion - Frameshift
STEAP3ENSG00000115107ENST00000393106p.V235Ic.703G>ASubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.C3158Rc.9472T>CSubstitution - Missense
FAM134AENSG00000144567ENST00000430297p.P238Sc.712C>TSubstitution - Missense
SCML2ENSG00000102098ENST00000251900p.L462fs*1c.1385delTDeletion - Frameshift
ENST00000381114p.T895Tc.2685T>GSubstitution - coding silent
EZRENSG00000092820ENST00000367075p.R363Kc.1088G>ASubstitution - Missense
ENST00000330166p.V3393Ac.10178T>CSubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.G54fs*2c.156delGDeletion - Frameshift
C4orf21ENSG00000138658ENST00000505019p.Y655Yc.1965C>TSubstitution - coding silent
DHX36ENSG00000174953ENST00000496811p.G39Gc.117C>ASubstitution - coding silent
DYSFENSG00000135636ENST00000258104p.S1129Sc.3387C>TSubstitution - coding silent
B3GNT9ENSG00000237172ENST00000449549p.A184Ac.552C>ASubstitution - coding silent
CAMK4ENSG00000152495ENST00000512453p.V269Vc.807A>GSubstitution - coding silent
TBC1D25ENSG00000068354ENST00000376771p.P436Lc.1307C>TSubstitution - Missense
KIF19ENSG00000196169ENST00000389916p.R923Mc.2768G>TSubstitution - Missense
ENST00000293813p.S306Pc.916T>CSubstitution - Missense
MAGED1ENSG00000179222ENST00000375695p.S507fs*32c.1518delTDeletion - Frameshift
SYTL5ENSG00000147041ENST00000297875p.G569fs*3c.1704_1705insAInsertion - Frameshift
TMC4ENSG00000167608ENST00000301187p.V536Vc.1608C>TSubstitution - coding silent
SLX4ENSG00000188827ENST00000294008p.P504Hc.1511C>ASubstitution - Missense
SEPT2ENSG00000168385ENST00000360051p.G308Sc.922G>ASubstitution - Missense
GPR113ENSG00000173567ENST00000311519p.?c.178+5T>CUnknown
ZAP70ENSG00000115085ENST00000264972p.A387Ac.1161G>ASubstitution - coding silent
NM_003319p.S19628fs*2c.58881_58882insAInsertion - Frameshift
ABHD12ENSG00000100997ENST00000376542p.R71Cc.211C>TSubstitution - Missense
ABHD12ENSG00000100997ENST00000339157p.R71Cc.211C>TSubstitution - Missense
ACVR1ENSG00000115170ENST00000263640p.W98Rc.292T>CSubstitution - Missense
DPP6ENSG00000130226ENST00000406326p.I184fs*4c.544delADeletion - Frameshift
MACC1ENSG00000183742ENST00000332878p.S139fs*9c.415delADeletion - Frameshift
SCN2AENSG00000136531ENST00000375437p.K1180Ec.3538A>GSubstitution - Missense
COBLL1ENSG00000082438ENST00000342193p.G552Dc.1655G>ASubstitution - Missense
VPS41ENSG00000006715ENST00000310301p.N829Sc.2486A>GSubstitution - Missense
NM_007181p.A72Tc.214G>ASubstitution - Missense
KCND2ENSG00000184408ENST00000331113p.V237Ic.709G>ASubstitution - Missense
BCAP29ENSG00000075790ENST00000445771p.R160fs*3c.474delADeletion - Frameshift
PPP1R10ENSG00000204569ENST00000376511p.G804Gc.2412C>TSubstitution - coding silent
NIP7ENSG00000132603ENST00000254940p.L86Pc.257T>CSubstitution - Missense
SF3B3ENSG00000189091ENST00000302516p.G60Gc.180T>CSubstitution - coding silent
RADILENSG00000157927ENST00000399583p.Q109Qc.327G>ASubstitution - coding silent
ACTBENSG00000075624ENST00000331789p.Y169Cc.506A>GSubstitution - Missense
PCDHB15ENSG00000113248ENST00000231173p.T24Ac.70A>GSubstitution - Missense
PASD1ENSG00000166049ENST00000370357p.L655Mc.1963T>ASubstitution - Missense
SLFN5ENSG00000166750ENST00000299977p.I62Ic.186T>CSubstitution - coding silent
ENST00000576222_v68p.T541Mc.1622C>TSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.S714Sc.2142G>ASubstitution - coding silent
OBP2BENSG00000171102ENST00000372034p.P41Pc.123G>ASubstitution - coding silent
IARSENSG00000196305ENST00000375643p.D789Yc.2365G>TSubstitution - Missense
PCSK5ENSG00000099139ENST00000545128p.R1157Cc.3469C>TSubstitution - Missense
UBTFENSG00000108312ENST00000302904p.R174*c.520C>TSubstitution - Nonsense
PRKCEENSG00000171132ENST00000306156p.N168Nc.504C>TSubstitution - coding silent
PACRGLENSG00000163138ENST00000503585p.?c.609+10G>AUnknown
ADD1ENSG00000087274ENST00000398125p.A656Ac.1968T>CSubstitution - coding silent
ABCA1ENSG00000165029ENST00000423487p.R126Hc.377G>ASubstitution - Missense
TRIP13ENSG00000071539ENST00000166345p.G382Cc.1144G>TSubstitution - Missense
NCAPH2ENSG00000025770ENST00000299821p.E549*c.1645G>TSubstitution - Nonsense
OGTENSG00000147162ENST00000373701p.I99Sc.296T>GSubstitution - Missense
MAP1SENSG00000130479ENST00000324096p.C208Cc.624C>TSubstitution - coding silent
KIR2DL4ENSG00000189013ENST00000345540p.A266Tc.796G>ASubstitution - Missense
CYB5R2ENSG00000166394ENST00000299498p.R118*c.352C>TSubstitution - Nonsense
PLEKHA8ENSG00000106086ENST00000396257p.P351Ac.1051C>GSubstitution - Missense
HERC6ENSG00000138642ENST00000273960p.S202Lc.605C>TSubstitution - Missense
WWC3ENSG00000047644ENST00000380861p.G199Gc.597C>TSubstitution - coding silent
SSX3ENSG00000165584ENST00000376893p.?c.70-9T>GUnknown
ERBB2IPENSG00000112851ENST00000380943p.Q893Qc.2679G>ASubstitution - coding silent
FAM65BENSG00000111913ENST00000538035p.I989Vc.2965A>GSubstitution - Missense
BTNL9ENSG00000165810ENST00000376842p.P63Sc.187C>TSubstitution - Missense
SLC25A39ENSG00000013306ENST00000377095p.D277Gc.830A>GSubstitution - Missense
STEAP3ENSG00000115107ENST00000393110p.V245Ic.733G>ASubstitution - Missense
IL17REENSG00000163701ENST00000421412p.C328Rc.982T>CSubstitution - Missense
ZNF30ENSG00000168661ENST00000426813p.K519fs*16c.1552delADeletion - Frameshift
DOCK9ENSG00000088387ENST00000442173p.L23fs*27c.61_62insCInsertion - Frameshift
ENST00000507381p.S134Sc.402A>GSubstitution - coding silent
KLC1ENSG00000126214ENST00000334553p.I326Tc.977T>CSubstitution - Missense
PLEKHG5ENSG00000171680ENST00000537245p.R529Cc.1585C>TSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.R4236Qc.12707G>ASubstitution - Missense
NBPF10ENSG00000163386ENST00000342960p.P1178Ac.3532C>GSubstitution - Missense
RTKN2ENSG00000182010ENST00000395265p.?c.889-10T>CUnknown
MYOFENSG00000138119ENST00000371501p.L1111Pc.3332T>CSubstitution - Missense
POU5F1BENSG00000212993ENST00000465342p.V241Ac.722T>CSubstitution - Missense
POU5F1BENSG00000212993ENST00000465342p.V241Ac.722T>CSubstitution - Missense
DNM1ENSG00000106976ENST00000486160p.?c.1335+6A>GUnknown
ATP13A4ENSG00000127249ENST00000295548p.S330Nc.989G>ASubstitution - Missense
GALNTL6ENSG00000174473ENST00000506823p.H597Rc.1790A>GSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.?c.1211+10C>TUnknown
ZNF454ENSG00000178187ENST00000320129p.G156Rc.466G>ASubstitution - Missense
HSPA1LENSG00000204390ENST00000375654p.A184Vc.551C>TSubstitution - Missense
CYP4F2ENSG00000186115ENST00000221700p.A182Tc.544G>ASubstitution - Missense
ENST00000279593p.R371Sc.1113G>TSubstitution - Missense
GPR182ENSG00000166856ENST00000300098p.E378Kc.1132G>ASubstitution - Missense
PTPROENSG00000151490ENST00000281171p.T447Ac.1339A>GSubstitution - Missense
HIST3H3ENSG00000168148ENST00000366696p.Q126Kc.376C>ASubstitution - Missense
ENST00000256007p.F822Lc.2464T>CSubstitution - Missense
RRM1ENSG00000167325ENST00000300738p.C254Cc.762T>CSubstitution - coding silent
EXT2ENSG00000151348ENST00000533608p.A630Vc.1889C>TSubstitution - Missense
ANKRD1ENSG00000148677ENST00000371697p.L75fs*8c.222_223insAInsertion - Frameshift
NOC3LENSG00000173145ENST00000371361p.I137fs*22c.403_404insAInsertion - Frameshift
TLL2ENSG00000095587ENST00000357947p.C490Rc.1468T>CSubstitution - Missense
BAZ2AENSG00000076108ENST00000551812p.H1610Hc.4830T>CSubstitution - coding silent
KIF17ENSG00000117245ENST00000247986p.T504Tc.1512T>GSubstitution - coding silent
SVILENSG00000197321ENST00000355867p.T741Tc.2223T>CSubstitution - coding silent
ABCC4ENSG00000125257ENST00000376887p.P1315Sc.3943C>TSubstitution - Missense
ITGB1ENSG00000150093ENST00000396033p.V787Ic.2359G>ASubstitution - Missense
CREMENSG00000095794ENST00000374726p.R73Mc.218G>TSubstitution - Missense
PITRM1ENSG00000107959ENST00000380989p.A589Tc.1765G>ASubstitution - Missense
HAUS6ENSG00000147874ENST00000380502p.S530fs*12c.1588delADeletion - Frameshift
AGRNENSG00000188157ENST00000379370p.P627fs*105c.1875delCDeletion - Frameshift
XDHENSG00000158125ENST00000379416p.P555fs*67c.1664delCDeletion - Frameshift
SLC22A16ENSG00000004809ENST00000368919p.A408Tc.1222G>ASubstitution - Missense
GLI3ENSG00000106571ENST00000395925p.P1033fs*46c.3098delCDeletion - Frameshift
TAF1BENSG00000115750ENST00000263663p.S471fs*28c.1404delADeletion - Frameshift
FERENSG00000151422ENST00000281092p.K476fs*53c.1422delADeletion - Frameshift
KIRREL2ENSG00000126259ENST00000360202p.C652fs*>57c.1947delCDeletion - Frameshift
PORCNENSG00000102312ENST00000537758p.R243*c.727C>TSubstitution - Nonsense
MUTENSG00000146085ENST00000274813p.R610Hc.1829G>ASubstitution - Missense
BDP1ENSG00000145734ENST00000358731p.L313fs*1c.931delTDeletion - Frameshift
PRRC2BENSG00000130723ENST00000357304p.A1265Tc.3793G>ASubstitution - Missense
PCDHB8ENSG00000120322ENST00000239444p.A720Ac.2160G>ASubstitution - coding silent
TBC1D25ENSG00000068354ENST00000376771p.R234Qc.701G>ASubstitution - Missense
SDK1ENSG00000146555ENST00000404826p.A564Tc.1690G>ASubstitution - Missense
C7orf50ENSG00000146540ENST00000357429p.K72fs*87c.215delADeletion - Frameshift
KCNC1ENSG00000129159ENST00000379472p.R263Hc.788G>ASubstitution - Missense
LRP6ENSG00000070018ENST00000261349p.S275Gc.823A>GSubstitution - Missense
ENST00000280576p.A413Ac.1239G>ASubstitution - coding silent
BUD13ENSG00000137656ENST00000260210p.A426fs*2c.1272_1273insGInsertion - Frameshift
ATAD3AENSG00000197785ENST00000378755p.R256Cc.766C>TSubstitution - Missense
SORT1ENSG00000134243ENST00000256637p.P747Pc.2241G>ASubstitution - coding silent
FAM188AENSG00000148481ENST00000277632p.F292fs*7c.876delTDeletion - Frameshift
TMC7ENSG00000170537ENST00000304381p.Q535fs*13c.1598delGDeletion - Frameshift
ENST00000338282p.N1899Sc.5696A>GSubstitution - Missense
MUC15ENSG00000169550ENST00000455601p.S195Sc.585T>CSubstitution - coding silent
GDF10ENSG00000107623ENST00000224605p.R141Qc.422G>ASubstitution - Missense
NCOA4ENSG00000138293ENST00000452682p.K225Kc.675A>GSubstitution - coding silent
SF1ENSG00000168066ENST00000334944p.M242Vc.724A>GSubstitution - Missense
INSCENSG00000188487ENST00000379554p.M187Ic.561G>ASubstitution - Missense
RSC1A1ENSG00000215695ENST00000345034p.F248Lc.742T>CSubstitution - Missense
NM_004667.3p.G4436Sc.13306G>ASubstitution - Missense
NCDNENSG00000020129ENST00000373243p.A609Vc.1826C>TSubstitution - Missense
CCDC27ENSG00000162592ENST00000294600p.L639fs*>19c.1915_1916insCInsertion - Frameshift
FRYENSG00000073910ENST00000380250p.N1513Nc.4539C>TSubstitution - coding silent
DNALI1ENSG00000163879ENST00000296218p.T18Ac.52A>GSubstitution - Missense
PLCH2ENSG00000149527ENST00000378486p.S655Gc.1963A>GSubstitution - Missense
ATE1ENSG00000107669ENST00000369043p.D308Dc.924T>CSubstitution - coding silent
TCF7L2ENSG00000148737ENST00000355717p.I207Vc.619A>GSubstitution - Missense
TACC2ENSG00000138162ENST00000369005p.E1042fs*8c.3124_3125insGInsertion - Frameshift
RGS7ENSG00000182901ENST00000366565p.P391Pc.1173C>TSubstitution - coding silent
TEX30ENSG00000151287ENST00000376019p.L86Pc.257T>CSubstitution - Missense
MTA1ENSG00000182979ENST00000331320p.G638fs*11c.1907delGDeletion - Frameshift
BUB3ENSG00000154473ENST00000368865p.F64Lc.190T>CSubstitution - Missense
RHCGENSG00000140519ENST00000268122p.G108Gc.324C>ASubstitution - coding silent
C12orf60ENSG00000182993ENST00000330828p.H119Hc.357T>CSubstitution - coding silent
PCNXL2ENSG00000135749ENST00000258229p.A925fs*14c.2773delGDeletion - Frameshift
GALNT9ENSG00000182870ENST00000535228p.R150Rc.450C>TSubstitution - coding silent
EP400NLENSG00000185684ENST00000376625p.Q77fs*27c.228_229insCInsertion - Frameshift
NOL11ENSG00000130935ENST00000253247p.K480fs*26c.1434delADeletion - Frameshift
C8orf37ENSG00000156172ENST00000286688p.K86Rc.257A>GSubstitution - Missense
CCDC25ENSG00000147419ENST00000356537p.?c.29-3T>CUnknown
ENSG00000204814ENST00000377548p.N68fs*71c.198delADeletion - Frameshift
PLXNA4ENSG00000221866ENST00000321063p.R376Qc.1127G>ASubstitution - Missense
TSHZ2ENSG00000182463ENST00000371497p.D930Ec.2790C>ASubstitution - Missense
AMOTENSG00000126016ENST00000304758p.S10Cc.29C>GSubstitution - Missense
GPR108ENSG00000125734ENST00000264080p.A328Vc.983C>TSubstitution - Missense
GPC3ENSG00000147257ENST00000394299p.T343Tc.1029C>TSubstitution - coding silent
PHBENSG00000167085ENST00000300408p.A196Vc.587C>TSubstitution - Missense
OR7D4ENSG00000174667ENST00000308682p.M118Ic.354G>ASubstitution - Missense
LRRC7ENSG00000033122ENST00000370958p.?c.500+7A>GUnknown
LRRC7ENSG00000033122ENST00000035383p.K1020Kc.3060A>GSubstitution - coding silent
ENST00000315089p.S220Sc.660C>TSubstitution - coding silent
C5orf42ENSG00000197603ENST00000274258p.S653Sc.1959T>CSubstitution - coding silent
RICTORENSG00000164327ENST00000296782p.L1561Rc.4682T>GSubstitution - Missense
SKP2ENSG00000145604ENST00000274255p.P66fs*5c.192delCDeletion - Frameshift
SGPP1ENSG00000126821ENST00000247225p.W126*c.378G>ASubstitution - Nonsense
BTBD7ENSG00000011114ENST00000298896p.R284Lc.851G>TSubstitution - Missense
SLC12A1ENSG00000074803ENST00000396577p.R63Tc.188G>CSubstitution - Missense
ENST00000368766p.R74Hc.221G>ASubstitution - Missense
ENST00000456955p.G207Ec.620G>ASubstitution - Missense
ENST00000344371p.A153Tc.457G>ASubstitution - Missense
LGR6ENSG00000133067ENST00000367278p.E320Dc.960G>CSubstitution - Missense
TNNI1ENSG00000159173ENST00000367312p.H70Hc.210C>TSubstitution - coding silent
FAT3ENSG00000165323ENST00000409404p.T654Tc.1962A>CSubstitution - coding silent
SCUBE2ENSG00000175356ENST00000309263p.?c.1090+3A>GUnknown
PDE4DIPENSG00000178104ENST00000369354p.Q2071*c.6211C>TSubstitution - Nonsense
GPR126ENSG00000112414ENST00000367609p.Y1226Cc.3677A>GSubstitution - Missense
RXFP3ENSG00000182631ENST00000330120p.A307Ac.921G>ASubstitution - coding silent
ARHGEF26ENSG00000114790ENST00000356448p.L810Lc.2428C>TSubstitution - coding silent
CES3ENSG00000172828ENST00000303334p.C406Yc.1217G>ASubstitution - Missense
CCT7ENSG00000135624ENST00000258091p.?c.447-1G>AUnknown
NM_152536.2p.T1017Tc.3051C>TSubstitution - coding silent
RRM2ENSG00000171848ENST00000360566p.C330fs*1c.988_989delTGDeletion - Frameshift
XIRP1ENSG00000168334ENST00000340369p.R945Rc.2835G>TSubstitution - coding silent
ZNF628ENSG00000197483ENST00000391718p.G803fs*9c.2403delGDeletion - Frameshift
UBA1ENSG00000130985ENST00000442035p.R141Wc.421C>TSubstitution - Missense
RPGRENSG00000156313ENST00000339363p.G370Gc.1110T>CSubstitution - coding silent
EFHBENSG00000163576ENST00000295824p.D542Dc.1626T>CSubstitution - coding silent
TNK2ENSG00000061938ENST00000333602p.Y859Sc.2576A>CSubstitution - Missense
DEPDC5ENSG00000100150ENST00000400248p.V1187Mc.3559G>ASubstitution - Missense
MORC2ENSG00000133422ENST00000397641p.?c.3030+8C>TUnknown
TCF25ENSG00000141002ENST00000263346p.N164Sc.491A>GSubstitution - Missense
OR6B3ENSG00000178586ENST00000319423p.A20Tc.58G>ASubstitution - Missense
ZAP70ENSG00000115085ENST00000264972p.V149Ac.446T>CSubstitution - Missense
ZDHHC8ENSG00000099904ENST00000334554p.T748Tc.2244G>TSubstitution - coding silent
CEP76ENSG00000101624ENST00000262127p.?c.1122+1G>AUnknown
SCRIBENSG00000180900ENST00000356994p.I742Vc.2224A>GSubstitution - Missense
PLECENSG00000178209ENST00000345136p.T1062Mc.3185C>TSubstitution - Missense
FRYLENSG00000075539ENST00000503238p.Y1888Cc.5663A>GSubstitution - Missense
RCAN1ENSG00000159200ENST00000381132p.T38Ac.112A>GSubstitution - Missense
GLYR1ENSG00000140632ENST00000321919p.R381fs*15c.1132_1133insGInsertion - Frameshift
KRTAP10-3ENSG00000212935ENST00000391620p.A209Tc.625G>ASubstitution - Missense
SEMA4CENSG00000168758ENST00000305476p.A647Ac.1941A>GSubstitution - coding silent
MSI2ENSG00000153944ENST00000284073p.H171Rc.512A>GSubstitution - Missense
GGA1ENSG00000100083ENST00000343632p.R485fs*35c.1446_1447insCInsertion - Frameshift
DDOENSG00000203797ENST00000368924p.P202Pc.606G>ASubstitution - coding silent
RTTNENSG00000176225ENST00000255674p.Y2111Hc.6331T>CSubstitution - Missense
MCTP1ENSG00000175471ENST00000515393p.S713Pc.2137T>CSubstitution - Missense
ZNF236ENSG00000130856ENST00000253159p.R1106Qc.3317G>ASubstitution - Missense
PRDM13ENSG00000112238ENST00000369215p.P437Lc.1310C>TSubstitution - Missense
KIAA0825ENSG00000185261ENST00000513200p.S862fs*10c.2584delTDeletion - Frameshift
UQCRC1ENSG00000010256ENST00000203407p.?c.706+6T>CUnknown
C9orf173ENSG00000197768ENST00000388931p.H358fs*>20c.1069_1097del29Deletion - Frameshift
ITIH6ENSG00000102313ENST00000218436p.Y1204Cc.3611A>GSubstitution - Missense
TOR4AENSG00000198113ENST00000357503p.R121Rc.363C>TSubstitution - coding silent
CRTC1ENSG00000105662ENST00000321949p.S482Gc.1444A>GSubstitution - Missense
TBC1D10BENSG00000169221ENST00000409939p.R366fs*38c.1088_1089insCTInsertion - Frameshift
KCTD5ENSG00000167977ENST00000301738p.A217Vc.650C>TSubstitution - Missense
MAMSTRENSG00000176909ENST00000356751p.?c.601-6C>TUnknown
ORC5ENSG00000164815ENST00000447452p.V214Fc.640G>TSubstitution - Missense
PMS2ENSG00000122512ENST00000265849p.V467Ic.1399G>ASubstitution - Missense
FOXP4ENSG00000137166ENST00000373063p.L271fs*95c.804delADeletion - Frameshift
ALPIENSG00000163295ENST00000295463p.R269Cc.805C>TSubstitution - Missense
SP100ENSG00000067066ENST00000340126p.M492Vc.1474A>GSubstitution - Missense
CCDC140ENSG00000163081ENST00000295226p.H44Hc.132C>TSubstitution - coding silent
ADGBENSG00000118492ENST00000397944p.P1426Pc.4278G>ASubstitution - coding silent
FAT4ENSG00000196159ENST00000394329p.R286Hc.857G>ASubstitution - Missense
AGO2ENSG00000123908ENST00000220592p.A603fs*71c.1799_1800insCInsertion - Frameshift
FGF12ENSG00000114279ENST00000264730p.S98fs*7c.292delADeletion - Frameshift
TENM2ENSG00000145934ENST00000518659p.N2217Dc.6649A>GSubstitution - Missense
VPS52ENSG00000223501ENST00000445902p.S517Pc.1549T>CSubstitution - Missense
SPDEFENSG00000124664ENST00000374037p.S24Sc.72G>ASubstitution - coding silent
C16orf59ENSG00000162062ENST00000361837p.P328Sc.982C>TSubstitution - Missense
PKN1ENSG00000123143ENST00000342216p.?c.2312-1G>TUnknown
TNRC6AENSG00000090905ENST00000395799p.V136Vc.408A>GSubstitution - coding silent
KMT2CENSG00000055609ENST00000262189p.S965Sc.2895T>CSubstitution - coding silent
SCN2AENSG00000136531ENST00000375437p.?c.971-6A>CUnknown
MCF2ENSG00000101977ENST00000519895p.F687fs*8c.2060delTDeletion - Frameshift
URGCPENSG00000106608ENST00000223341p.A188Vc.563C>TSubstitution - Missense
AFF2ENSG00000155966ENST00000286437p.W901Cc.2703G>TSubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.R220Hc.659G>ASubstitution - Missense
TCEANCENSG00000176896ENST00000314720p.V334Vc.1002A>GSubstitution - coding silent
STAG3ENSG00000066923ENST00000426455p.G947Dc.2840G>ASubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.A1081Tc.3241G>ASubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.P773Lc.2318C>TSubstitution - Missense
COG4ENSG00000103051ENST00000323786p.Q197Qc.591A>GSubstitution - coding silent
OXR1ENSG00000164830ENST00000312046p.P73Pc.219T>GSubstitution - coding silent
COL12A1ENSG00000111799ENST00000322507p.G1131Ec.3392G>ASubstitution - Missense
MDN1ENSG00000112159ENST00000369393p.Q4407Rc.13220A>GSubstitution - Missense
ENST00000571252_v68p.R580Cc.1738C>TSubstitution - Missense
NM_014866.1p.P753Pc.2259T>CSubstitution - coding silent
PRUNE2ENSG00000106772ENST00000376718p.P1163Pc.3489G>ASubstitution - coding silent
IARSENSG00000196305ENST00000375643p.Y1082Cc.3245A>GSubstitution - Missense
PPP2R2BENSG00000156475ENST00000394413p.T222Mc.665C>TSubstitution - Missense
CELENSG00000170835ENST00000372080p.I194Vc.580A>GSubstitution - Missense
CCDC182ENSG00000166329ENST00000299415p.M22fs*1c.64delADeletion - Frameshift
TSSK6ENSG00000178093ENST00000360913p.G199Gc.597C>TSubstitution - coding silent
TMEM132BENSG00000139364ENST00000299308p.D279Dc.837C>TSubstitution - coding silent
PDE4AENSG00000065989ENST00000440014p.R635Mc.1904G>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000406091p.G626fs*3c.1869delADeletion - Frameshift
IMPA1ENSG00000133731ENST00000449740p.V293Mc.877G>ASubstitution - Missense
CUL9ENSG00000112659ENST00000252050p.R27Qc.80G>ASubstitution - Missense
DMDENSG00000198947ENST00000357033p.A2455Tc.7363G>ASubstitution - Missense
ERMNENSG00000136541ENST00000397283p.P18Pc.54G>ASubstitution - coding silent
LRRC15ENSG00000172061ENST00000347624p.A542Vc.1625C>TSubstitution - Missense
ENST00000402738_v70p.S1007Sc.3021C>TSubstitution - coding silent
HDAC6ENSG00000094631ENST00000444343p.L133Pc.398T>CSubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.T1563Ic.4688C>TSubstitution - Missense
KIF6ENSG00000164627ENST00000538893p.I229Ic.687T>CSubstitution - coding silent
KIF6ENSG00000164627ENST00000441975p.I16Ic.48T>CSubstitution - coding silent
MYO10ENSG00000145555ENST00000513610p.?c.3433-7G>TUnknown
KIF1AENSG00000130294ENST00000498729p.M687Tc.2060T>CSubstitution - Missense
RGPD2ENSG00000185304ENST00000398146p.L26Fc.78G>TSubstitution - Missense
ENST00000246203p.M217Tc.650T>CSubstitution - Missense
ICOSLGENSG00000160223ENST00000344330p.?c.898+1G>AUnknown
CNTN1ENSG00000018236ENST00000547849p.N477fs*2c.1430_1431insAInsertion - Frameshift
RCAN1ENSG00000159200ENST00000381135p.T83Ac.247A>GSubstitution - Missense
OR4A15ENSG00000181958ENST00000314706p.I295fs*5c.876delTDeletion - Frameshift
ELNENSG00000049540ENST00000358929p.G730fs*25c.2185delGDeletion - Frameshift
SHFENSG00000138606ENST00000318390p.N111Kc.333C>GSubstitution - Missense
PPFIA2ENSG00000139220ENST00000333447p.T852Sc.2554A>TSubstitution - Missense
PTPRRENSG00000153233ENST00000283228p.L271Pc.812T>CSubstitution - Missense
OR5J2ENSG00000174957ENST00000312298p.Q50Rc.149A>GSubstitution - Missense
CDH23ENSG00000107736ENST00000299366p.?c.2962+10C>TUnknown
PITRM1ENSG00000107959ENST00000224949p.A589Tc.1765G>ASubstitution - Missense
NOSTRINENSG00000163072ENST00000444448p.H454Hc.1362T>CSubstitution - coding silent
RNF139ENSG00000170881ENST00000303545p.I51Tc.152T>CSubstitution - Missense
RPS6KA4ENSG00000162302ENST00000334205p.M204Tc.611T>CSubstitution - Missense
TOLLIPENSG00000078902ENST00000317204p.A95Tc.283G>ASubstitution - Missense
EPB41ENSG00000159023ENST00000343067p.A11Ac.33C>TSubstitution - coding silent
SLC9C2ENSG00000162753ENST00000367714p.L57fs*1c.170delTDeletion - Frameshift
SCYL3ENSG00000000457ENST00000367772p.E266Gc.797A>GSubstitution - Missense
TFAP2EENSG00000116819ENST00000373235p.T237Mc.710C>TSubstitution - Missense
RASL11AENSG00000122035ENST00000241463p.L172Rc.515T>GSubstitution - Missense
ZBTB18ENSG00000179456ENST00000358704p.D406Dc.1218C>TSubstitution - coding silent
ANO1ENSG00000131620ENST00000355303p.?c.1893-7G>AUnknown
ANO1ENSG00000131620ENST00000355303p.T808Tc.2424G>ASubstitution - coding silent
GPR132ENSG00000183484ENST00000329797p.A164Tc.490G>ASubstitution - Missense
INPP5AENSG00000068383ENST00000368594p.V181Mc.541G>ASubstitution - Missense
NM_005539.2p.V181Mc.541G>ASubstitution - Missense
KIAA1024ENSG00000169330ENST00000305428p.N809Sc.2426A>GSubstitution - Missense
RASSF9ENSG00000198774ENST00000361228p.M204Lc.610A>TSubstitution - Missense
ENST00000402751p.T27Ic.80C>TSubstitution - Missense
GHITMENSG00000165678ENST00000372134p.?c.230-2A>GUnknown
PMLENSG00000140464ENST00000268058p.E551fs*8c.1648delGDeletion - Frameshift
CDK2ENSG00000123374ENST00000266970p.L175Mc.523C>ASubstitution - Missense
HOXC12ENSG00000123407ENST00000243103p.A34fs*74c.97delGDeletion - Frameshift
EPRSENSG00000136628ENST00000366923p.G761Ac.2282G>CSubstitution - Missense
ABCC4ENSG00000125257ENST00000376887p.P1315Sc.3943C>TSubstitution - Missense
EPHX1ENSG00000143819ENST00000366837p.T26Sc.77C>GSubstitution - Missense
PPP2R2BENSG00000156475ENST00000508545p.S274Lc.821C>TSubstitution - Missense
ZFP36L2ENSG00000152518ENST00000282388p.G107fs*80c.320delGDeletion - Frameshift
TTKENSG00000112742ENST00000369798p.R854fs*>4c.2552_2553delAADeletion - Frameshift
ROCK1ENSG00000067900ENST00000399799p.K1307fs*3c.3921delADeletion - Frameshift
ENST00000356127p.?c.295+9C>TUnknown
DYTNENSG00000232125ENST00000452335p.K331fs*3c.993delADeletion - Frameshift
UNC80ENSG00000144406ENST00000439458p.?c.7608-5T>AUnknown
XRCC5ENSG00000079246ENST00000392133p.I224Fc.670A>TSubstitution - Missense
FKBP1AENSG00000088832ENST00000400137p.T86Tc.258T>CSubstitution - coding silent
RPS6KA1ENSG00000117676ENST00000531382p.?c.2112+10C>TUnknown
TUBGCP3ENSG00000126216ENST00000261965p.A174Vc.521C>TSubstitution - Missense
CLSTN1ENSG00000171603ENST00000377298p.F96Lc.286T>CSubstitution - Missense
EGFLAMENSG00000164318ENST00000322350p.G737Gc.2211C>TSubstitution - coding silent
RALGAPA1ENSG00000174373ENST00000389698p.R1507Cc.4519C>TSubstitution - Missense
PBXIP1ENSG00000163346ENST00000368463p.A316fs*66c.946delGDeletion - Frameshift
NM_032105.1p.D369Dc.1107T>CSubstitution - coding silent
ME3ENSG00000151376ENST00000393324p.H252Hc.756C>TSubstitution - coding silent
NOX4ENSG00000086991ENST00000263317p.R6Wc.16A>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.E16Dc.48G>TSubstitution - Missense
PITPNM2ENSG00000090975ENST00000320201p.G1016Sc.3046G>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000367570p.A487Tc.1459G>ASubstitution - Missense
PTPRBENSG00000127329ENST00000334414p.R1210Wc.3628C>TSubstitution - Missense
ENST00000270720p.T650Tc.1950G>ASubstitution - coding silent
PLA2G4AENSG00000116711ENST00000367466p.P503Lc.1508C>TSubstitution - Missense
KIAA0430ENSG00000166783ENST00000344181p.H333Rc.998A>GSubstitution - Missense
NM_002094.1p.G35fs*15c.96_97insGInsertion - Frameshift
ENST00000331497p.L186Pc.557T>CSubstitution - Missense
TBX5ENSG00000089225ENST00000310346p.V267Ac.800T>CSubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.?c.1524-7A>GUnknown
ADAMTSL4ENSG00000143382ENST00000369038p.L341Lc.1023G>ASubstitution - coding silent
MICAL3ENSG00000243156ENST00000441493p.G397Rc.1189G>ASubstitution - Missense
KIR2DL4ENSG00000189013ENST00000396284p.A321Tc.961G>ASubstitution - Missense
FOXS1ENSG00000179772ENST00000375978p.P16Pc.48A>GSubstitution - coding silent
TERF1ENSG00000147601ENST00000276602p.R100Gc.298A>GSubstitution - Missense
EPHB6ENSG00000106123ENST00000392957p.Y230Cc.689A>GSubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.I742Vc.2224A>GSubstitution - Missense
CISHENSG00000114737ENST00000348721p.S119Sc.357A>GSubstitution - coding silent
USP4ENSG00000114316ENST00000265560p.?c.2733+7A>GUnknown
DYRK1AENSG00000157540ENST00000338785p.Q172*c.514C>TSubstitution - Nonsense
TIAM1ENSG00000156299ENST00000286827p.D1266Nc.3796G>ASubstitution - Missense
UMODL1ENSG00000177398ENST00000400424p.Q931fs*85c.2792_2793insTCCAInsertion - Frameshift
KDM3AENSG00000115548ENST00000409556p.H92Rc.275A>GSubstitution - Missense
SMARCA4ENSG00000127616ENST00000358026p.R1477Wc.4429C>TSubstitution - Missense
MEP1BENSG00000141434ENST00000269202p.Q439Qc.1317G>ASubstitution - coding silent
DTNAENSG00000134769ENST00000399121p.C258Cc.774C>TSubstitution - coding silent
FBXW9ENSG00000132004ENST00000393261p.T207Tc.621G>ASubstitution - coding silent
NPC1ENSG00000141458ENST00000269228p.V20Lc.58G>CSubstitution - Missense
CNBD1ENSG00000176571ENST00000518476p.T419Nc.1256C>ASubstitution - Missense
TNFRSF10AENSG00000104689ENST00000221132p.D459Dc.1377T>CSubstitution - coding silent
FLNBENSG00000136068ENST00000490882p.A2069Ac.6207G>ASubstitution - coding silent
PLXNA4ENSG00000221866ENST00000378539p.R376Qc.1127G>ASubstitution - Missense
GLDCENSG00000178445ENST00000321612p.A855Vc.2564C>TSubstitution - Missense
RUSC2ENSG00000198853ENST00000361226p.R922Rc.2766G>ASubstitution - coding silent
PPP4R1LENSG00000124224ENST00000334187p.N316Nc.948T>CSubstitution - coding silent
CADPS2ENSG00000081803ENST00000449022p.N468fs*7c.1403delADeletion - Frameshift
CASS4ENSG00000087589ENST00000360314p.?c.36+4A>GUnknown
PNKPENSG00000039650ENST00000322344p.P101Lc.302C>TSubstitution - Missense
KLK15ENSG00000174562ENST00000326856p.N149Nc.447C>TSubstitution - coding silent
ENST00000300671p.N3915Nc.11745C>TSubstitution - coding silent
TNRC6CENSG00000078687ENST00000301624p.T3Ac.7A>GSubstitution - Missense
PAK3ENSG00000077264ENST00000360648p.K279Ec.835A>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.?c.295+9C>TUnknown
ENST00000317082_v61p.V1459Ic.4375G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.H1759Hc.5277T>CSubstitution - coding silent
ZNF273ENSG00000198039ENST00000476120p.?c.103-9G>TUnknown
RUVBL1ENSG00000175792ENST00000322623p.G349Dc.1046G>ASubstitution - Missense
SAP130ENSG00000136715ENST00000259235p.K167fs*39c.498delCDeletion - Frameshift
ADAM22ENSG00000008277ENST00000265727p.D653Nc.1957G>ASubstitution - Missense
GREB1ENSG00000196208ENST00000381486p.K381Rc.1142A>GSubstitution - Missense
GPR126ENSG00000112414ENST00000296932p.N476fs*9c.1422delADeletion - Frameshift
SYNE1ENSG00000131018ENST00000423061p.T2666Ac.7996A>GSubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.P632Pc.1896G>ASubstitution - coding silent
IL20RAENSG00000016402ENST00000367746p.Q107Qc.321G>ASubstitution - coding silent
CCRN4LENSG00000151014ENST00000280614p.F217fs*9c.646delTDeletion - Frameshift
TET3ENSG00000187605ENST00000409262p.P564Pc.1692T>CSubstitution - coding silent
FAM65AENSG00000039523ENST00000379312p.?c.2491-1G>AUnknown
DDX28ENSG00000182810ENST00000332395p.H424Rc.1271A>GSubstitution - Missense
SETD6ENSG00000103037ENST00000310682p.T248Ac.742A>GSubstitution - Missense
CNTN4ENSG00000144619ENST00000418658p.?c.1358+2T>CUnknown
STPG2ENSG00000163116ENST00000295268p.L325Sc.974T>CSubstitution - Missense
PDIA6ENSG00000143870ENST00000272227p.Q244Qc.732G>ASubstitution - coding silent
ABCA9ENSG00000154258ENST00000340001p.A356Vc.1067C>TSubstitution - Missense
PEG3ENSG00000198300ENST00000423103p.S861Sc.2583C>ASubstitution - coding silent
CCDC22ENSG00000101997ENST00000376227p.S527Sc.1581C>TSubstitution - coding silent
RBM10ENSG00000182872ENST00000377604p.A410Ac.1230C>GSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T2063Ac.6187A>GSubstitution - Missense
GSTCDENSG00000138780ENST00000394730p.C440Cc.1320T>CSubstitution - coding silent
STRNENSG00000115808ENST00000263918p.S754Sc.2262G>ASubstitution - coding silent
DPRXENSG00000204595ENST00000376650p.H115fs*>28c.341_488del148Deletion - Frameshift
CADENSG00000084774ENST00000264705p.V1783Ic.5347G>ASubstitution - Missense
ARFGAP1ENSG00000101199ENST00000370275p.R379Rc.1137G>ASubstitution - coding silent
XKR3ENSG00000172967ENST00000331428p.P279Lc.836C>TSubstitution - Missense
MRPL34ENSG00000130312ENST00000252602p.K63Kc.189G>ASubstitution - coding silent
NEBENSG00000183091ENST00000427231p.K781Kc.2343G>ASubstitution - coding silent
NM_133170.2p.S856Sc.2568C>TSubstitution - coding silent
ZNF449ENSG00000173275ENST00000339249p.Q15Rc.44A>GSubstitution - Missense
SLC26A3ENSG00000091138ENST00000340010p.D170Dc.510T>CSubstitution - coding silent
PWWP2AENSG00000170234ENST00000456329p.G493Rc.1477G>ASubstitution - Missense
TAS2R40ENSG00000221937ENST00000408947p.S250Ic.749G>TSubstitution - Missense
RBAKENSG00000146587ENST00000396912p.E571Gc.1712A>GSubstitution - Missense
OR2A5ENSG00000221836ENST00000408906p.P267Pc.801T>CSubstitution - coding silent
EGFRENSG00000146648ENST00000275493p.Q408Rc.1223A>GSubstitution - Missense
HARS2ENSG00000112855ENST00000230771p.F285Lc.853T>CSubstitution - Missense
UNC45BENSG00000141161ENST00000394570p.V575Ac.1724T>CSubstitution - Missense
TRIOENSG00000038382ENST00000344204p.R558Cc.1672C>TSubstitution - Missense
USP32ENSG00000170832ENST00000300896p.P998Rc.2993C>GSubstitution - Missense
FXR1ENSG00000114416ENST00000357559p.I344Ic.1032T>CSubstitution - coding silent
TBXA2RENSG00000006638ENST00000375190p.A52Vc.155C>TSubstitution - Missense
RABL6ENSG00000196642ENST00000371663p.S312Nc.935G>ASubstitution - Missense
SPATA31E1ENSG00000177992ENST00000325643p.P234Tc.700C>ASubstitution - Missense
LCN10ENSG00000187922ENST00000497771p.H33Hc.99C>TSubstitution - coding silent
DERL2ENSG00000072849ENST00000158771p.F64fs*12c.192delTDeletion - Frameshift
PRRC1ENSG00000164244ENST00000296666p.P170Hc.509C>ASubstitution - Missense
TIGD4ENSG00000169989ENST00000304337p.H240Rc.719A>GSubstitution - Missense
ZNF462ENSG00000148143ENST00000277225p.P1105Pc.3315G>ASubstitution - coding silent
ZNF451ENSG00000112200ENST00000357489p.Y831Cc.2492A>GSubstitution - Missense
RANGAP1ENSG00000100401ENST00000356244p.G158Gc.474C>TSubstitution - coding silent
APOL4ENSG00000100336ENST00000352371p.V140Ic.418G>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000404898p.F1282delFc.3840_3842delCTTDeletion - In frame
SEMA5AENSG00000112902ENST00000382496p.D685Gc.2054A>GSubstitution - Missense
PTH1RENSG00000160801ENST00000313049p.G541Ec.1622G>ASubstitution - Missense
MAPK13ENSG00000156711ENST00000211287p.Q61Qc.183G>ASubstitution - coding silent
PSIP1ENSG00000164985ENST00000380715p.A162Ac.486A>CSubstitution - coding silent
A4GNTENSG00000118017ENST00000236709p.R174Gc.520A>GSubstitution - Missense
NCKAP5ENSG00000176771ENST00000409261p.R1781Hc.5342G>ASubstitution - Missense
PODXLENSG00000128567ENST00000537928p.?c.706+6T>CUnknown
DMTNENSG00000158856ENST00000358242p.I47Tc.140T>CSubstitution - Missense
IARSENSG00000196305ENST00000375629p.S102Sc.306G>ASubstitution - coding silent
TRIM40ENSG00000204614ENST00000396581p.Y114Sc.341A>CSubstitution - Missense
TRERF1ENSG00000124496ENST00000541110p.P687Sc.2059C>TSubstitution - Missense
SLC22A16ENSG00000004809ENST00000330550p.A374Tc.1120G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.L1257Ic.3769C>ASubstitution - Missense
TEX10ENSG00000136891ENST00000535814p.R8fs*10c.22delADeletion - Frameshift
FAM193AENSG00000125386ENST00000324666p.T66Mc.197C>TSubstitution - Missense
ZNF737ENSG00000237440ENST00000427401p.T273fs*4c.818_900del83Deletion - Frameshift
FBXW9ENSG00000132004ENST00000380339p.T207Tc.621G>ASubstitution - coding silent
ENST00000263817_v70p.G455Gc.1365A>GSubstitution - coding silent
ZNF646ENSG00000167395ENST00000394979p.A1664Tc.4990G>ASubstitution - Missense
LGR6ENSG00000133067ENST00000255432p.E268Dc.804G>CSubstitution - Missense
ACTN2ENSG00000077522ENST00000542672p.?c.1975-6C>TUnknown
SLC2A1ENSG00000117394ENST00000372500p.R51Cc.151C>TSubstitution - Missense
ESRRGENSG00000196482ENST00000391890p.V30Ic.88G>ASubstitution - Missense
PRAMEF10ENSG00000187545ENST00000235347p.I450Vc.1348A>GSubstitution - Missense
ZNF687ENSG00000143373ENST00000368879p.S338Sc.1014C>ASubstitution - coding silent
ANKS1BENSG00000185046ENST00000332712p.R439Sc.1317G>TSubstitution - Missense
OR51A4ENSG00000205497ENST00000380373p.S110Sc.330A>GSubstitution - coding silent
VWA2ENSG00000165816ENST00000392982p.P298Tc.892C>ASubstitution - Missense
CDK5RAP2ENSG00000136861ENST00000349780p.K471fs*8c.1413delADeletion - Frameshift
PDCLENSG00000136940ENST00000259467p.A206Ac.618C>TSubstitution - coding silent
KIAA1191ENSG00000122203ENST00000298569p.P80Pc.240T>CSubstitution - coding silent
HCRTR2ENSG00000137252ENST00000370862p.C12fs*12c.25_26insCInsertion - Frameshift
SALL2ENSG00000165821ENST00000327430p.P843_D844insPc.2528_2529insACCInsertion - In frame
OR4N2ENSG00000176294ENST00000315947p.S203Gc.607A>GSubstitution - Missense
RHCGENSG00000140519ENST00000268122p.F80Lc.240C>ASubstitution - Missense
ARHGEF17ENSG00000110237ENST00000263674p.A510Tc.1528G>ASubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.D1535Dc.4605T>CSubstitution - coding silent
SCN8AENSG00000196876ENST00000354534p.V1900Lc.5698G>TSubstitution - Missense
MGST1ENSG00000008394ENST00000396207p.T5Tc.15C>ASubstitution - coding silent
TAPBPLENSG00000139192ENST00000266556p.M216Tc.647T>CSubstitution - Missense
STAT6ENSG00000166888ENST00000300134p.C384Cc.1152C>TSubstitution - coding silent
SEC24CENSG00000176986ENST00000345254p.I453Vc.1357A>GSubstitution - Missense
MYO9AENSG00000066933ENST00000356056p.E1005Ec.3015G>ASubstitution - coding silent
SOAT2ENSG00000167780ENST00000301466p.A472Tc.1414G>ASubstitution - Missense
LRCH1ENSG00000136141ENST00000311191p.L162Mc.484C>ASubstitution - Missense
ITGB1ENSG00000150093ENST00000396033p.?c.1039-4G>AUnknown
RNF219ENSG00000152193ENST00000282003p.K213fs*14c.638delADeletion - Frameshift
SLITRK6ENSG00000184564ENST00000400286p.S259Gc.775A>GSubstitution - Missense
USP13ENSG00000058056ENST00000263966p.K598fs*36c.1789delADeletion - Frameshift
ATP2B4ENSG00000058668ENST00000357681p.K88fs*40c.254_255insCInsertion - Frameshift
PCNXL2ENSG00000135749ENST00000258229p.K619fs*52c.1856delADeletion - Frameshift
FAM124AENSG00000150510ENST00000280057p.T193Tc.579G>ASubstitution - coding silent
RAPGEF2ENSG00000109756ENST00000264431p.R1236Cc.3706C>TSubstitution - Missense
POM121CENSG00000135213ENST00000453279p.S782Sc.2346C>TSubstitution - coding silent
SOX9ENSG00000125398ENST00000245479p.V306fs*77c.912delGDeletion - Frameshift
RTN4ENSG00000115310ENST00000337526p.V670fs*4c.2007delADeletion - Frameshift
KLHL30ENSG00000168427ENST00000409223p.R73Hc.218G>ASubstitution - Missense
MEGF8ENSG00000105429ENST00000334370p.G166fs*53c.491delGDeletion - Frameshift
ENST00000251268_v61p.G166fs*53c.491delGDeletion - Frameshift
EPS8L1ENSG00000131037ENST00000245618p.A492Gc.1475C>GSubstitution - Missense
CBWD1ENSG00000172785ENST00000377447p.?c.431-1G>CUnknown
NM_032457.1p.T843Tc.2529G>TSubstitution - coding silent
EPHA3ENSG00000044524ENST00000336596p.V412Ic.1234G>ASubstitution - Missense
AGRNENSG00000188157ENST00000379370p.?c.2805+5delgUnknown
CCDC88CENSG00000015133ENST00000389857p.R1155Gc.3463A>GSubstitution - Missense
VPS13CENSG00000129003ENST00000395896p.P2738Pc.8214T>GSubstitution - coding silent
SLC12A1ENSG00000074803ENST00000396577p.I911Vc.2731A>GSubstitution - Missense
XM_371254.3p.?c.3289-1G>TUnknown
SEMA6DENSG00000137872ENST00000558014p.V925Vc.2775T>CSubstitution - coding silent
SLC12A1ENSG00000074803ENST00000380993p.R63Tc.188G>CSubstitution - Missense
SEMA6DENSG00000137872ENST00000316364p.S826fs*11c.2475_2476insCInsertion - Frameshift
PBXIP1ENSG00000163346ENST00000368463p.R499Wc.1495C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000399634p.A305Vc.914C>TSubstitution - Missense
LRP6ENSG00000070018ENST00000261349p.G791Gc.2373G>ASubstitution - coding silent
FAT3ENSG00000165323ENST00000409404p.K2983Ec.8947A>GSubstitution - Missense
ENST00000298047_v61p.K2983Ec.8947A>GSubstitution - Missense
ZNF259ENSG00000109917ENST00000227322p.A109Sc.325G>TSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.T3223Tc.9669A>GSubstitution - coding silent
UBR4ENSG00000127481ENST00000375254p.K5140Nc.15420A>CSubstitution - Missense
RMI2ENSG00000175643ENST00000572173p.P17Pc.51G>ASubstitution - coding silent
PCDH15ENSG00000150275ENST00000361849p.R134*c.400C>TSubstitution - Nonsense
RLFENSG00000117000ENST00000372771p.Q740Rc.2219A>GSubstitution - Missense
COX6A1ENSG00000111775ENST00000229379p.R68fs*22c.199_200delGADeletion - Frameshift
TBX5ENSG00000089225ENST00000526441p.V267Ac.800T>CSubstitution - Missense
FAM149B1ENSG00000138286ENST00000242505p.E34Kc.100G>ASubstitution - Missense
ENST00000398860p.N1862Dc.5584A>GSubstitution - Missense
APBB1ENSG00000166313ENST00000299402p.?c.1382+2T>CUnknown
SPENENSG00000065526ENST00000375759p.A3267Ac.9801C>ASubstitution - coding silent
NM_004667.3p.?c.10413+7G>AUnknown
NM_004667.3p.L3306Sc.9917T>CSubstitution - Missense
STAB2ENSG00000136011ENST00000388887p.K308Rc.923A>GSubstitution - Missense
CNNM1ENSG00000119946ENST00000356713p.V335Vc.1005A>TSubstitution - coding silent
PCGF6ENSG00000156374ENST00000369847p.P130Ac.388C>GSubstitution - Missense
NPAS4ENSG00000174576ENST00000311034p.E565Dc.1695G>TSubstitution - Missense
YIPF7ENSG00000177752ENST00000332990p.I232Ic.696C>TSubstitution - coding silent
CAV3ENSG00000182533ENST00000397368p.A93Tc.277G>ASubstitution - Missense
RIPK4ENSG00000183421ENST00000332512p.P584Pc.1752C>TSubstitution - coding silent
RIPK4ENSG00000183421ENST00000352483p.N509Nc.1527T>CSubstitution - coding silent
ENST00000420871_v68p.K162fs*17c.485delADeletion - Frameshift
SNRNP200ENSG00000144028ENST00000323853p.N1026Dc.3076A>GSubstitution - Missense
TRMT1ENSG00000104907ENST00000357720p.N39Sc.116A>GSubstitution - Missense
ELAVL3ENSG00000196361ENST00000359227p.A18fs*18c.38_39insGInsertion - Frameshift
PCYT2ENSG00000185813ENST00000538936p.A247Ac.741G>ASubstitution - coding silent
DOCK6ENSG00000130158ENST00000319867p.L1987Lc.5959C>TSubstitution - coding silent
TSR1ENSG00000167721ENST00000301364p.T331Mc.992C>TSubstitution - Missense
HMBOX1ENSG00000147421ENST00000397358p.D371Gc.1112A>GSubstitution - Missense
NEFMENSG00000104722ENST00000221166p.Q566Qc.1698G>ASubstitution - coding silent
SLC39A14ENSG00000104635ENST00000359741p.T58Ac.172A>GSubstitution - Missense
KIAA1432ENSG00000107036ENST00000381532p.?c.1755+2T>CUnknown
ARHGEF39ENSG00000137135ENST00000378387p.T57fs*65c.168delGDeletion - Frameshift
FLNCENSG00000128591ENST00000325888p.V2328Mc.6982G>ASubstitution - Missense
C9orf24ENSG00000164972ENST00000297623p.K65Ec.193A>GSubstitution - Missense
CALUENSG00000128595ENST00000542996p.N48Ic.143A>TSubstitution - Missense
AKR1B10ENSG00000198074ENST00000359579p.T244fs*29c.730_731insAInsertion - Frameshift
HRCENSG00000130528ENST00000252825p.E647delEc.1939_1941delGAGDeletion - In frame
ENST00000452401p.P126fs*34c.372delCDeletion - Frameshift
CANT1ENSG00000171302ENST00000392446p.L167Lc.501A>GSubstitution - coding silent
SLC43A2ENSG00000167703ENST00000301335p.G270Gc.810C>TSubstitution - coding silent
SLC43A2ENSG00000167703ENST00000301335p.A134Ac.402G>ASubstitution - coding silent
RGAG1ENSG00000243978ENST00000465301p.M847Ic.2541G>ASubstitution - Missense
TNFSF14ENSG00000125735ENST00000245912p.N93fs*13c.278delADeletion - Frameshift
MAP2ENSG00000078018ENST00000360351p.S186Nc.557G>ASubstitution - Missense
PGBD2ENSG00000185220ENST00000329291p.L284Lc.852G>ASubstitution - coding silent
PCID2ENSG00000126226ENST00000246505p.P448Lc.1343C>TSubstitution - Missense
ENST00000414268p.A416fs*2c.1246delGDeletion - Frameshift
EPHA4ENSG00000116106ENST00000281821p.T121Mc.362C>TSubstitution - Missense
DMDENSG00000198947ENST00000357033p.Q3268Qc.9804A>GSubstitution - coding silent
CXorf23ENSG00000173681ENST00000379687p.G316fs*3c.945delADeletion - Frameshift
ENST00000381114p.C2368Rc.7102T>CSubstitution - Missense
OPN1LWENSG00000102076ENST00000369951p.M79Vc.235A>GSubstitution - Missense
OSBPL3ENSG00000070882ENST00000313367p.?c.2173-9G>AUnknown
ENST00000297027p.P115Sc.343C>TSubstitution - Missense
NM_012294.2p.S263Tc.788G>CSubstitution - Missense
NHSL1ENSG00000135540ENST00000343505p.L566fs*1c.1696delCDeletion - Frameshift
ACTG2ENSG00000163017ENST00000345517p.R29fs*16c.80delCDeletion - Frameshift
CNGB1ENSG00000070729ENST00000251102p.P331Pc.993A>GSubstitution - coding silent
CSRNP1ENSG00000144655ENST00000273153p.P540Pc.1620T>CSubstitution - coding silent
FAM173BENSG00000150756ENST00000511437p.T199Tc.597G>ASubstitution - coding silent
TET2ENSG00000168769ENST00000380013p.M695Vc.2083A>GSubstitution - Missense
ARAFENSG00000078061ENST00000377045p.T224Mc.671C>TSubstitution - Missense
MORC2ENSG00000133422ENST00000215862p.?c.2844+8C>TUnknown
SLC5A2ENSG00000140675ENST00000330498p.A549Ac.1647G>ASubstitution - coding silent
C16orf95ENSG00000260456ENST00000567970p.Y58Hc.172T>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.K7580fs*25c.22740delADeletion - Frameshift
NM_003319p.K7455fs*25c.22365delADeletion - Frameshift
NM_003319p.V6786Ic.20356G>ASubstitution - Missense
MICAL3ENSG00000243156ENST00000207726p.G397Rc.1189G>ASubstitution - Missense
PFASENSG00000178921ENST00000314666p.P133fs*17c.393delCDeletion - Frameshift
TERF1ENSG00000147601ENST00000276603p.D282delDc.842_844delATGDeletion - In frame
CDH20ENSG00000101542ENST00000262717p.Y711Yc.2133C>TSubstitution - coding silent
COL1A2ENSG00000164692ENST00000297268p.P261Pc.783T>CSubstitution - coding silent
DYRK1AENSG00000157540ENST00000398960p.Q172*c.514C>TSubstitution - Nonsense
KRTAP29-1ENSG00000212658ENST00000391353p.A2Tc.4G>ASubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.T1870fs*6c.5603delADeletion - Frameshift
ENST00000505235p.S140Sc.420A>CSubstitution - coding silent
ZNF467ENSG00000181444ENST00000302017p.R554Rc.1662C>TSubstitution - coding silent
SHPKENSG00000197417ENST00000225519p.C187Yc.560G>ASubstitution - Missense
AP2B1ENSG00000006125ENST00000312678p.H763Hc.2289C>TSubstitution - coding silent
WDR87ENSG00000171804ENST00000303868p.Q684Qc.2052A>GSubstitution - coding silent
WTIPENSG00000142279ENST00000270288p.C338Cc.1014C>TSubstitution - coding silent
SEC16AENSG00000148396ENST00000313050p.P753Pc.2259T>CSubstitution - coding silent
KAT2AENSG00000108773ENST00000225916p.M362Vc.1084A>GSubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.R1075Cc.3223C>TSubstitution - Missense
GPR125ENSG00000152990ENST00000334304p.Y545Hc.1633T>CSubstitution - Missense
ENST00000368454p.?c.760-4G>AUnknown
FDFT1ENSG00000079459ENST00000220584p.N205Sc.614A>GSubstitution - Missense
KIAA1958ENSG00000165185ENST00000374244p.R573Rc.1719G>TSubstitution - coding silent
ZNF451ENSG00000112200ENST00000370706p.Y831Cc.2492A>GSubstitution - Missense
NM_001198.2p.R76Cc.226C>TSubstitution - Missense
TEX33ENSG00000185264ENST00000405091p.A96Vc.287C>TSubstitution - Missense
SLC22A16ENSG00000004809ENST00000368919p.V434Ac.1301T>CSubstitution - Missense
GRIK2ENSG00000164418ENST00000369138p.A494Vc.1481C>TSubstitution - Missense
NM_002439.1p.L405Pc.1214T>CSubstitution - Missense
B3GNT3ENSG00000179913ENST00000318683p.R277Hc.830G>ASubstitution - Missense
ENST00000298728p.A566Tc.1696G>ASubstitution - Missense
EDA2RENSG00000131080ENST00000374719p.R14Wc.40C>TSubstitution - Missense
ZNF668ENSG00000167394ENST00000394983p.E507fs*22c.1518delTDeletion - Frameshift
NM_004142.1p.F120Ic.358T>ASubstitution - Missense
NM_148674.1p.?c.293+8A>GUnknown
USP34ENSG00000115464ENST00000398571p.V248Vc.744T>CSubstitution - coding silent
ZNF233ENSG00000159915ENST00000334152p.T569Tc.1707A>GSubstitution - coding silent
SCN1AENSG00000144285ENST00000423058p.Q506Ec.1516C>GSubstitution - Missense
ITFG3ENSG00000167930ENST00000450082p.S211Rc.631A>CSubstitution - Missense
ITFG3ENSG00000167930ENST00000450082p.A9Tc.25G>ASubstitution - Missense
CAMSAP2ENSG00000118200ENST00000236925p.R1179Wc.3535C>TSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.D74Dc.222T>CSubstitution - coding silent
ADAMTSL4ENSG00000143382ENST00000369039p.L341Lc.1023G>ASubstitution - coding silent
MCF2LENSG00000126217ENST00000423482p.T434Mc.1301C>TSubstitution - Missense
ANO1ENSG00000131620ENST00000316296p.?c.1719-7G>AUnknown
RTKN2ENSG00000182010ENST00000373789p.?c.889-10T>CUnknown
MYPNENSG00000138347ENST00000354393p.H777Hc.2331C>TSubstitution - coding silent
MYOFENSG00000138119ENST00000371501p.T1554Tc.4662G>ASubstitution - coding silent
ENST00000344936_v70p.Y23Cc.68A>GSubstitution - Missense
HDHD1ENSG00000130021ENST00000424830p.P248Sc.742C>TSubstitution - Missense
APBB2ENSG00000163697ENST00000295974p.?c.20-3delcUnknown
KLHL41ENSG00000239474ENST00000284669p.E429Kc.1285G>ASubstitution - Missense
POU5F1BENSG00000212993ENST00000465342p.Q94Hc.282G>CSubstitution - Missense
NEU1ENSG00000204386ENST00000375631p.L293Ic.877C>ASubstitution - Missense
HYDINENSG00000157423ENST00000321489p.N855Nc.2565T>CSubstitution - coding silent
NM_007349.2p.?c.336+7G>AUnknown
ENST00000539307p.?c.454+5G>TUnknown
ATP10BENSG00000118322ENST00000327245p.L978Lc.2932T>CSubstitution - coding silent
ENST00000412131p.?c.457+4A>GUnknown
ENOX1ENSG00000120658ENST00000261488p.D44Dc.132T>CSubstitution - coding silent
CCDC122ENSG00000151773ENST00000444614p.M122Tc.365T>CSubstitution - Missense
CLK3ENSG00000179335ENST00000395066p.T391Ac.1171A>GSubstitution - Missense
PEAK1ENSG00000173517ENST00000312493p.G957Cc.2869G>TSubstitution - Missense
LRRC43ENSG00000158113ENST00000339777p.I561fs*10c.1674delCDeletion - Frameshift
SRGAP2ENSG00000163486ENST00000414007p.M494Vc.1480A>GSubstitution - Missense
IKBKEENSG00000143466ENST00000367120p.L107Lc.319C>TSubstitution - coding silent
PARP1ENSG00000143799ENST00000366794p.E840Ac.2519A>CSubstitution - Missense
ITPKBENSG00000143772ENST00000429204p.P167Lc.500C>TSubstitution - Missense
DPH5ENSG00000117543ENST00000370109p.G41Ec.122G>ASubstitution - Missense
GIT2ENSG00000139436ENST00000343646p.?c.988-8A>GUnknown
FLT4ENSG00000037280ENST00000261937p.Q423fs*70c.1267delCDeletion - Frameshift
ENST00000376868p.Q233fs*70c.697delCDeletion - Frameshift
ACTL6BENSG00000077080ENST00000160382p.?c.759+8T>GUnknown
GDF5ENSG00000125965ENST00000374369p.A69fs*18c.205delGDeletion - Frameshift
LEF1ENSG00000138795ENST00000265165p.D14fs*10c.40delGDeletion - Frameshift
PRR14ENSG00000156858ENST00000300835p.P279fs*2c.830delCDeletion - Frameshift
ABCG4ENSG00000172350ENST00000307417p.P483Lc.1448C>TSubstitution - Missense
PPP1R12CENSG00000125503ENST00000263433p.I373fs*51c.1116delCDeletion - Frameshift
DMDENSG00000198947ENST00000378677p.A2451Tc.7351G>ASubstitution - Missense
DPH7ENSG00000148399ENST00000277540p.G215Gc.645C>TSubstitution - coding silent
PRRC2BENSG00000130723ENST00000357304p.A1265Tc.3793G>ASubstitution - Missense
FAM3DENSG00000198643ENST00000358781p.N107Dc.319A>GSubstitution - Missense
OR8K1ENSG00000150261ENST00000279783p.L172Lc.516G>ASubstitution - coding silent
CLIP4ENSG00000115295ENST00000320081p.A254Vc.761C>TSubstitution - Missense
G6PDENSG00000160211ENST00000369620p.I199Ic.597C>TSubstitution - coding silent
ERBB2IPENSG00000112851ENST00000380943p.V748Ac.2243T>CSubstitution - Missense
SLC22A16ENSG00000004809ENST00000330550p.V410Ac.1229T>CSubstitution - Missense
ADAM19ENSG00000135074ENST00000430702p.?c.1440-8G>AUnknown
MAP4K4ENSG00000071054ENST00000350878p.S1141Sc.3423A>GSubstitution - coding silent
PDIA6ENSG00000143870ENST00000381611p.Q249Qc.747G>ASubstitution - coding silent
NRXN1ENSG00000179915ENST00000402717p.R121Hc.362G>ASubstitution - Missense
ANK2ENSG00000145362ENST00000506722p.P611Pc.1833G>ASubstitution - coding silent
CYB5R2ENSG00000166394ENST00000524790p.T145fs*8c.433delADeletion - Frameshift
CHD4ENSG00000111642ENST00000357008p.G1038Dc.3113G>ASubstitution - Missense
KCNMB4ENSG00000135643ENST00000258111p.P156Pc.468A>GSubstitution - coding silent
SIDT2ENSG00000149577ENST00000324225p.P7Sc.19C>TSubstitution - Missense
UCHL5ENSG00000116750ENST00000367450p.W70*c.210G>ASubstitution - Nonsense
FAM188AENSG00000148481ENST00000436829p.F145fs*7c.435delTDeletion - Frameshift
CACNA1HENSG00000196557ENST00000358590p.V1299Mc.3895G>ASubstitution - Missense
NGRNENSG00000182768ENST00000379095p.L258Pc.773T>CSubstitution - Missense
NOS1ENSG00000089250ENST00000317775p.P526Sc.1576C>TSubstitution - Missense
PABPC4ENSG00000090621ENST00000372857p.R518Wc.1552C>TSubstitution - Missense
ADAM30ENSG00000134249ENST00000369400p.L395Lc.1185A>GSubstitution - coding silent
C10orf107ENSG00000183346ENST00000330194p.V161Fc.481G>TSubstitution - Missense
NOS1APENSG00000198929ENST00000361897p.?c.177+6T>CUnknown
METTL13ENSG00000010165ENST00000361735p.G40Gc.120G>ASubstitution - coding silent
TXNRD1ENSG00000198431ENST00000525566p.M382Rc.1145T>GSubstitution - Missense
CNTN1ENSG00000018236ENST00000551295p.N477fs*2c.1430_1431insAInsertion - Frameshift
C1orf101ENSG00000179397ENST00000366533p.V516Ac.1547T>CSubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.M784Tc.2351T>CSubstitution - Missense
LRP5ENSG00000162337ENST00000294304p.L20_A21insLc.60_61insCTGInsertion - In frame
C2CD3ENSG00000168014ENST00000313663p.T1062Ac.3184A>GSubstitution - Missense
KRT82ENSG00000161850ENST00000257974p.R177Rc.531G>ASubstitution - coding silent
GUCY2CENSG00000070019ENST00000261170p.M379Rc.1136T>GSubstitution - Missense
AQP6ENSG00000086159ENST00000315520p.A26Ac.78G>ASubstitution - coding silent
PCNXL2ENSG00000135749ENST00000258229p.Y1509Hc.4525T>CSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.E2000Kc.5998G>ASubstitution - Missense
NACAENSG00000196531ENST00000454682p.A1917Vc.5750C>TSubstitution - Missense
VWFENSG00000110799ENST00000261405p.D1087Nc.3259G>ASubstitution - Missense
ZFYVE27ENSG00000155256ENST00000356257p.S9Sc.27T>CSubstitution - coding silent
CBFA2T2ENSG00000078699ENST00000342704p.H544fs*10c.1626delCDeletion - Frameshift
PRR12ENSG00000126464ENST00000418929p.G911Gc.2733C>TSubstitution - coding silent
ENST00000246798p.C308Cc.924C>TSubstitution - coding silent
MYO15AENSG00000091536ENST00000205890p.Y274Nc.820T>ASubstitution - Missense
BTKENSG00000010671ENST00000308731p.V113Ic.337G>ASubstitution - Missense
FAM120AENSG00000048828ENST00000277165p.V448Mc.1342G>ASubstitution - Missense
DMRT3ENSG00000064218ENST00000417254p.N111fs*>2c.332_333insAInsertion - Frameshift
ENST00000331986p.T7452Sc.22354A>TSubstitution - Missense
CHD7ENSG00000171316ENST00000423902p.I1286Vc.3856A>GSubstitution - Missense
PARD3BENSG00000116117ENST00000358768p.R850Hc.2549G>ASubstitution - Missense
MYO1BENSG00000128641ENST00000392318p.S730fs*4c.2182delADeletion - Frameshift
ERBB4ENSG00000178568ENST00000402597p.L770Pc.2309T>CSubstitution - Missense
PKD1L2ENSG00000166473ENST00000525539p.P1024Pc.3072T>GSubstitution - coding silent
KPNB1ENSG00000108424ENST00000290158p.Y497Cc.1490A>GSubstitution - Missense
LPHN2ENSG00000117114ENST00000370725p.?c.1821+5C>GUnknown
HHIPL1ENSG00000182218ENST00000330710p.A178Tc.532G>ASubstitution - Missense
UPF3AENSG00000169062ENST00000375299p.L244Lc.732A>GSubstitution - coding silent
IQCHENSG00000103599ENST00000335894p.V623Ac.1868T>CSubstitution - Missense
SKP2ENSG00000145604ENST00000274254p.P66fs*5c.192delCDeletion - Frameshift
NUP155ENSG00000113569ENST00000231498p.T935Mc.2804C>TSubstitution - Missense
NM_014572p.R817Gc.2449A>GSubstitution - Missense
TLN2ENSG00000171914ENST00000306829p.N883Sc.2648A>GSubstitution - Missense
SAMD4AENSG00000020577ENST00000357634p.L487fs*31c.1454delCDeletion - Frameshift
SEMA6DENSG00000137872ENST00000558014p.S764fs*11c.2289_2290insCInsertion - Frameshift
ADAM15ENSG00000143537ENST00000356955p.A713Vc.2138C>TSubstitution - Missense
SPRR3ENSG00000163209ENST00000295367p.K76Nc.228G>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.R1047Wc.3139C>TSubstitution - Missense
IPO9ENSG00000198700ENST00000361565p.T759Ac.2275A>GSubstitution - Missense
MDM4ENSG00000198625ENST00000367182p.V267Ac.800T>CSubstitution - Missense
MXRA8ENSG00000162576ENST00000309212p.Y143Hc.427T>CSubstitution - Missense
DUSP16ENSG00000111266ENST00000228862p.S604Sc.1812T>CSubstitution - coding silent
ITFG3ENSG00000167930ENST00000301678p.S211Rc.631A>CSubstitution - Missense
NLRC3ENSG00000167984ENST00000301749p.G530Sc.1588G>ASubstitution - Missense
IRAK2ENSG00000134070ENST00000256458p.K350Tc.1049A>CSubstitution - Missense
IRAK2ENSG00000134070ENST00000256458p.K350Tc.1049A>CSubstitution - Missense
SGOL2ENSG00000163535ENST00000357799p.G640Cc.1918G>TSubstitution - Missense
NOP58ENSG00000055044ENST00000264279p.R120Cc.358C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.V9206Vc.27618A>GSubstitution - coding silent
ENST00000356127p.V9206Vc.27618A>GSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.Q9049Rc.27146A>GSubstitution - Missense
ROCK1ENSG00000067900ENST00000399799p.E789Kc.2365G>ASubstitution - Missense
C8orf34ENSG00000165084ENST00000337103p.S80Pc.238T>CSubstitution - Missense
SAMD9LENSG00000177409ENST00000318238p.L66Ic.196C>ASubstitution - Missense
ENST00000360191p.P93Pc.279G>ASubstitution - coding silent
NAT6ENSG00000243477ENST00000354862p.R177Hc.530G>ASubstitution - Missense
MROH1ENSG00000179832ENST00000423230p.A419Ac.1257G>ASubstitution - coding silent
USP4ENSG00000114316ENST00000265560p.V864Ac.2591T>CSubstitution - Missense
MLLT4ENSG00000130396ENST00000392108p.V1373Ac.4118T>CSubstitution - Missense
LAMB2ENSG00000172037ENST00000305544p.R723fs*9c.2167_2168insCInsertion - Frameshift
CISHENSG00000114737ENST00000443053p.S136Sc.408A>GSubstitution - coding silent
DTHD1ENSG00000197057ENST00000456874p.R704Cc.2110C>TSubstitution - Missense
ARL13BENSG00000169379ENST00000394222p.I364Vc.1090A>GSubstitution - Missense
UBN1ENSG00000118900ENST00000396658p.G1127Gc.3381G>TSubstitution - coding silent
ANKS3ENSG00000168096ENST00000304283p.V93fs*3c.278delTDeletion - Frameshift
ROBO1ENSG00000169855ENST00000464233p.R1293Wc.3877C>TSubstitution - Missense
PRDM15ENSG00000141956ENST00000269844p.C241fs*1c.723_724delTGDeletion - Frameshift
SEMA4CENSG00000168758ENST00000305476p.L271Qc.812T>ASubstitution - Missense
SMARCA4ENSG00000127616ENST00000429416p.P647Lc.1940C>TSubstitution - Missense
DSC1ENSG00000134765ENST00000257198p.C454Yc.1361G>ASubstitution - Missense
ENST00000411702p.E250Kc.748G>ASubstitution - Missense
MRC2ENSG00000011028ENST00000303375p.D815Dc.2445C>TSubstitution - coding silent
KIF13BENSG00000197892ENST00000524189p.L1249Pc.3746T>CSubstitution - Missense
SGSM2ENSG00000141258ENST00000268989p.P890Pc.2670T>CSubstitution - coding silent
MFHAS1ENSG00000147324ENST00000276282p.H529Hc.1587C>TSubstitution - coding silent
DCP1AENSG00000162290ENST00000294241p.?c.1444+1_1444+43>17Unknown
ASCC3ENSG00000112249ENST00000369162p.E1143delEc.3427_3429delGAADeletion - In frame
SBF1ENSG00000100241ENST00000380817p.R656Qc.1967G>ASubstitution - Missense
NM_012080.3p.P211Sc.631C>TSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.H2252Rc.6755A>GSubstitution - Missense
RLIMENSG00000131263ENST00000332687p.R515Tc.1544G>CSubstitution - Missense
XM_293293.1p.I295Ic.885T>CSubstitution - coding silent
XRN1ENSG00000114127ENST00000264951p.T970Ac.2908A>GSubstitution - Missense
ENST00000221482p.T100Mc.299C>TSubstitution - Missense
DHDHENSG00000104808ENST00000221403p.A104Ac.312G>ASubstitution - coding silent
ENST00000317082_v61p.V1455Mc.4363G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.L1040Ic.3118C>ASubstitution - Missense
PNISRENSG00000132424ENST00000369239p.S783Sc.2349C>TSubstitution - coding silent
ELNENSG00000049540ENST00000252034p.G662fs*25c.1981delGDeletion - Frameshift
TRIP12ENSG00000153827ENST00000283943p.K91fs*26c.273delADeletion - Frameshift
MGAT4BENSG00000161013ENST00000337755p.P116Sc.346C>TSubstitution - Missense
PLSCR1ENSG00000188313ENST00000342435p.F217Lc.649T>CSubstitution - Missense
KCMF1ENSG00000176407ENST00000409785p.N374Nc.1122T>CSubstitution - coding silent
FGD5ENSG00000154783ENST00000285046p.T1258Tc.3774C>TSubstitution - coding silent
PAIP2BENSG00000124374ENST00000244221p.S76Sc.228A>GSubstitution - coding silent
PLCD1ENSG00000187091ENST00000463876p.A303Ac.909T>CSubstitution - coding silent
TBC1D8ENSG00000204634ENST00000409318p.L358Pc.1073T>CSubstitution - Missense
BCORENSG00000183337ENST00000397354p.H750Hc.2250T>CSubstitution - coding silent
ADAM32ENSG00000197140ENST00000379907p.?c.2318+8G>TUnknown
CFPENSG00000126759ENST00000396992p.R346Rc.1038C>TSubstitution - coding silent
ELK1ENSG00000126767ENST00000247161p.R29Wc.85C>TSubstitution - Missense
FNDC4ENSG00000115226ENST00000264703p.S11fs*28c.22_23insCInsertion - Frameshift
LEF1ENSG00000138795ENST00000379951p.?c.762-7_762-6insACCUnknown
FAM179AENSG00000189350ENST00000379558p.P1015Pc.3045T>CSubstitution - coding silent
SENP5ENSG00000119231ENST00000323460p.T384delTc.1150_1152delACCDeletion - In frame
CHEK2ENSG00000183765ENST00000328354p.S164Nc.491G>ASubstitution - Missense
LILRB3ENSG00000204577ENST00000391750p.R369Sc.1107A>CSubstitution - Missense
TET2ENSG00000168769ENST00000380013p.A1810Tc.5428G>ASubstitution - Missense
XDHENSG00000158125ENST00000379416p.D553fs*69c.1658delADeletion - Frameshift
EIF4ENIF1ENSG00000184708ENST00000397525p.G851Dc.2552G>ASubstitution - Missense
ENST00000319396p.A500Tc.1498G>ASubstitution - Missense
ENST00000316490_v65p.N855Nc.2565T>CSubstitution - coding silent
ERMNENSG00000136541ENST00000397283p.P251Pc.753T>CSubstitution - coding silent
KMT2CENSG00000055609ENST00000355193p.T693Ac.2077A>GSubstitution - Missense
SGSM1ENSG00000167037ENST00000400359p.R66Cc.196C>TSubstitution - Missense
ENST00000342288p.N544Nc.1632T>CSubstitution - coding silent
MTSS1LENSG00000132613ENST00000338779p.T315Ac.943A>GSubstitution - Missense
ENST00000502505_v68p.T36Tc.108G>ASubstitution - coding silent
FHL5ENSG00000112214ENST00000326771p.S147Sc.441T>CSubstitution - coding silent
TAF15ENSG00000172660ENST00000311979p.S432_R467del36c.1291_1398del108Deletion - In frame
ZNF585AENSG00000196967ENST00000356958p.S665Sc.1995T>CSubstitution - coding silent
ENST00000270288_v71p.C562Cc.1686C>TSubstitution - coding silent
KCNT1ENSG00000107147ENST00000298480p.I309Vc.925A>GSubstitution - Missense
TAF2ENSG00000064313ENST00000378164p.I604fs*3c.1810delADeletion - Frameshift
ZNF462ENSG00000148143ENST00000457913p.P1105Pc.3315G>ASubstitution - coding silent
CACNA1IENSG00000100346ENST00000402142p.R416Rc.1248G>ASubstitution - coding silent
CAGE1ENSG00000164304ENST00000502583p.K380fs*10c.1139delADeletion - Frameshift
PPANENSG00000130810ENST00000253107p.G466fs*>8c.1394delGDeletion - Frameshift
ERAP1ENSG00000164307ENST00000296754p.D709Gc.2126A>GSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.P278Hc.833C>ASubstitution - Missense
ZFP57ENSG00000204644ENST00000376883p.C157fs*25c.469delTDeletion - Frameshift
FCHO2ENSG00000157107ENST00000430046p.N15fs*11c.38delADeletion - Frameshift
NM_003069.2p.M710fs*6c.2128delADeletion - Frameshift
FBXW7ENSG00000109670ENST00000263981p.R385Cc.1153C>TSubstitution - Missense
PODXLENSG00000128567ENST00000541194p.?c.712+6T>CUnknown
AMOTENSG00000126016ENST00000371958p.S187Cc.560C>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.T2666Ac.7996A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.T2698Ac.8092A>GSubstitution - Missense
CACNA1EENSG00000198216ENST00000357570p.A438Tc.1312G>ASubstitution - Missense
TCF4ENSG00000196628ENST00000544241p.H327Rc.980A>GSubstitution - Missense
ENST00000310397_v70p.V247Mc.739G>ASubstitution - Missense
CECR5ENSG00000069998ENST00000155674p.?c.447+2T>CUnknown
ENST00000405167p.T1391Mc.4172C>TSubstitution - Missense
DAZLENSG00000092345ENST00000399444p.S58Rc.174C>ASubstitution - Missense
ENST00000309900p.D125Dc.375C>TSubstitution - coding silent
CADPS2ENSG00000081803ENST00000313070p.N468fs*7c.1403delADeletion - Frameshift
FLNBENSG00000136068ENST00000357272p.A2038Ac.6114G>ASubstitution - coding silent
CACNA1HENSG00000196557ENST00000348261p.P2197fs*20c.6586delCDeletion - Frameshift
ABCA12ENSG00000144452ENST00000389661p.A906Vc.2717C>TSubstitution - Missense
ITFG3ENSG00000167930ENST00000442458p.S211Rc.631A>CSubstitution - Missense
UBE4BENSG00000130939ENST00000377157p.I754Vc.2260A>GSubstitution - Missense
TXNRD1ENSG00000198431ENST00000427956p.M347Rc.1040T>GSubstitution - Missense
MYOFENSG00000138119ENST00000371502p.L1111Pc.3332T>CSubstitution - Missense
RIMS2ENSG00000176406ENST00000339750p.K143Rc.428A>GSubstitution - Missense
STRBPENSG00000165209ENST00000447404p.Y429Yc.1287T>CSubstitution - coding silent
PRRC2BENSG00000130723ENST00000357304p.Y2182Yc.6546C>TSubstitution - coding silent
PKN3ENSG00000160447ENST00000291906p.R258Wc.772C>TSubstitution - Missense
AGAENSG00000038002ENST00000264595p.T40Ac.118A>GSubstitution - Missense
TSC2ENSG00000103197ENST00000219476p.K1242Ec.3724A>GSubstitution - Missense
WIZENSG00000011451ENST00000389282p.Y409Yc.1227C>TSubstitution - coding silent
CASKIN1ENSG00000167971ENST00000343516p.?c.245-9G>AUnknown
POLEENSG00000177084ENST00000320574p.?c.1686+6C>TUnknown
GPR137BENSG00000077585ENST00000366592p.P121Pc.363T>GSubstitution - coding silent
NACAENSG00000196531ENST00000356769p.A54Vc.161C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.R8427Cc.25279C>TSubstitution - Missense
AMBRA1ENSG00000110497ENST00000314845p.?c.2252-8C>TUnknown
C11orf49ENSG00000149179ENST00000378615p.E161Ac.482A>CSubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.E498*c.1492G>TSubstitution - Nonsense
PLCE1ENSG00000138193ENST00000260766p.E498*c.1492G>TSubstitution - Nonsense
MYL6ENSG00000092841ENST00000547649p.H111Hc.333T>CSubstitution - coding silent
AMHR2ENSG00000135409ENST00000257863p.C487Gc.1459T>GSubstitution - Missense
EIF4G3ENSG00000075151ENST00000264211p.G693Gc.2079C>TSubstitution - coding silent
CDC42BPAENSG00000143776ENST00000366766p.R1648Rc.4944C>TSubstitution - coding silent
PFKPENSG00000067057ENST00000381125p.G471Cc.1411G>TSubstitution - Missense
ACACBENSG00000076555ENST00000377848p.E1436Dc.4308G>TSubstitution - Missense
DACH1ENSG00000165659ENST00000359684p.R489Rc.1467T>CSubstitution - coding silent
TNKSENSG00000173273ENST00000310430p.D804fs*49c.2407delGDeletion - Frameshift
CCDC73ENSG00000186714ENST00000335185p.E448fs*5c.1341delADeletion - Frameshift
MOCS2ENSG00000164172ENST00000396954p.P22fs*2c.65delCDeletion - Frameshift
ESRP1ENSG00000104413ENST00000358397p.N512fs*2c.1528delADeletion - Frameshift
C7orf50ENSG00000146540ENST00000357429p.L179fs*>16c.535delCDeletion - Frameshift
DDX17ENSG00000100201ENST00000403230p.K121fs*4c.362delADeletion - Frameshift
TCOF1ENSG00000070814ENST00000504761p.E1456fs*>33c.4358delADeletion - Frameshift
CCDC178ENSG00000166960ENST00000300227p.N572fs*19c.1715delADeletion - Frameshift
ZNF30ENSG00000168661ENST00000439785p.K601fs*16c.1798delADeletion - Frameshift
DDX60ENSG00000137628ENST00000393743p.R261Cc.781C>TSubstitution - Missense
SACSENSG00000151835ENST00000382298p.K1717fs*8c.5151delADeletion - Frameshift
CNTLNENSG00000044459ENST00000380647p.E1127delEc.3374_3376delAAGDeletion - In frame
CFHR3ENSG00000116785ENST00000367425p.Y118Yc.354C>TSubstitution - coding silent
GPRC5BENSG00000167191ENST00000300571p.T318Tc.954G>ASubstitution - coding silent
ITGA8ENSG00000077943ENST00000378076p.Q254fs*10c.754_755insAInsertion - Frameshift
KIAA1549LENSG00000110427ENST00000265654p.G130Gc.390G>ASubstitution - coding silent
BIRC2ENSG00000110330ENST00000227758p.K546Kc.1638G>ASubstitution - coding silent
CWF19L2ENSG00000152404ENST00000282251p.E176Ac.527A>CSubstitution - Missense
BICC1ENSG00000122870ENST00000373886p.H555Rc.1664A>GSubstitution - Missense
ENST00000417177p.R139*c.415C>TSubstitution - Nonsense
CCDC60ENSG00000183273ENST00000327554p.Q30*c.88C>TSubstitution - Nonsense
TMEM53ENSG00000126106ENST00000372237p.L236Mc.706C>ASubstitution - Missense
CA14ENSG00000118298ENST00000369111p.?c.562+5G>AUnknown
ENST00000438990p.N273Sc.818A>GSubstitution - Missense
SYVN1ENSG00000162298ENST00000377190p.K610Kc.1830G>ASubstitution - coding silent
RUFY2ENSG00000204130ENST00000342616p.S230fs*25c.688delTDeletion - Frameshift
ABCC8ENSG00000006071ENST00000389817p.S120Sc.360C>TSubstitution - coding silent
COPAENSG00000122218ENST00000241704p.?c.2264-3_2264-2delcaUnknown
CHRFAM7AENSG00000166664ENST00000299847p.D129Dc.387T>CSubstitution - coding silent
BRCA2ENSG00000139618ENST00000380152p.T1505Ic.4514C>TSubstitution - Missense
SH3D21ENSG00000214193ENST00000312808p.T327Mc.980C>TSubstitution - Missense
SU_LRRK2p.M1431Tc.4292T>CSubstitution - Missense
C10orf76ENSG00000120029ENST00000370033p.?c.1151-1G>TUnknown
TCF7L2ENSG00000148737ENST00000369397p.V346Ic.1036G>ASubstitution - Missense
BAG3ENSG00000151929ENST00000369085p.R477Hc.1430G>ASubstitution - Missense
GPAMENSG00000119927ENST00000348367p.S560fs*27c.1677delCDeletion - Frameshift
INPP5FENSG00000198825ENST00000369080p.A9Dc.26C>ASubstitution - Missense
RHODENSG00000173156ENST00000308831p.Q59Qc.177A>GSubstitution - coding silent
DAKENSG00000149476ENST00000394900p.M1Vc.1A>GSubstitution - Missense
KLC1ENSG00000126214ENST00000452929p.I326Tc.977T>CSubstitution - Missense
KLC1ENSG00000126214ENST00000389744p.I326Tc.977T>CSubstitution - Missense
RBM12B-AS1ENSG00000212998ENST00000391680p.E86Gc.257A>GSubstitution - Missense
VCPENSG00000165280ENST00000358901p.R155Hc.464G>ASubstitution - Missense
ZNFX1ENSG00000124201ENST00000371752p.C773Cc.2319C>TSubstitution - coding silent
SIGLEC1ENSG00000088827ENST00000202578p.L868Ic.2602C>ASubstitution - Missense
MID1ENSG00000101871ENST00000453318p.Y396Hc.1186T>CSubstitution - Missense
ENST00000293218_v68p.A34Tc.100G>ASubstitution - Missense
AMOTENSG00000126016ENST00000371959p.S419Cc.1256C>GSubstitution - Missense
TLR8ENSG00000101916ENST00000218032p.V216Mc.646G>ASubstitution - Missense
PNPLA6ENSG00000032444ENST00000414982p.R654Hc.1961G>ASubstitution - Missense
APOBENSG00000084674ENST00000233242p.T4456Ac.13366A>GSubstitution - Missense
ISM1ENSG00000101230ENST00000262487p.V292Ac.875T>CSubstitution - Missense
OR7G3ENSG00000170920ENST00000305444p.R302Gc.904A>GSubstitution - Missense
FERMT2ENSG00000073712ENST00000395631p.T129Pc.385A>CSubstitution - Missense
LPAR3ENSG00000171517ENST00000370611p.R208Qc.623G>ASubstitution - Missense
FMN1ENSG00000248905ENST00000334528p.?c.3312-8T>CUnknown
BCAR1ENSG00000050820ENST00000393420p.E435Ec.1305A>GSubstitution - coding silent
GNG2ENSG00000186469ENST00000335281p.*72Yc.216A>CNonstop extension
RALGAPA1ENSG00000174373ENST00000307138p.T294Ac.880A>GSubstitution - Missense
CREB3L4ENSG00000143578ENST00000368603p.R385Hc.1154G>ASubstitution - Missense
DMXL2ENSG00000104093ENST00000251076p.?c.1345+3T>CUnknown
ATP2B4ENSG00000058668ENST00000367218p.E671Dc.2013G>TSubstitution - Missense
ATAD3BENSG00000160072ENST00000308647p.R290Cc.868C>TSubstitution - Missense
RAP1BENSG00000127314ENST00000250559p.N74fs*7c.217delADeletion - Frameshift
CCDC62ENSG00000130783ENST00000253079p.?c.396+10A>GUnknown
CHD4ENSG00000111642ENST00000309577p.G1038Dc.3113G>ASubstitution - Missense
LRRC23ENSG00000010626ENST00000323702p.E100Ec.300G>ASubstitution - coding silent
CDC73ENSG00000134371ENST00000367435p.V423Ac.1268T>CSubstitution - Missense
KCNQ2ENSG00000075043ENST00000359125p.P669Pc.2007G>ASubstitution - coding silent
TOM1ENSG00000100284ENST00000449058p.P463Lc.1388C>TSubstitution - Missense
COL20A1ENSG00000101203ENST00000326996p.V962Mc.2884G>ASubstitution - Missense
NLRC3ENSG00000167984ENST00000324659p.G465Sc.1393G>ASubstitution - Missense
ZNF668ENSG00000167394ENST00000394983p.Q263Kc.787C>ASubstitution - Missense
PRDM7ENSG00000126856ENST00000449207p.K102Kc.306A>GSubstitution - coding silent
CA5AENSG00000174990ENST00000309893p.A208Ac.624G>ASubstitution - coding silent
CBFA2T3ENSG00000129993ENST00000268679p.G106Rc.316G>ASubstitution - Missense
PARD3BENSG00000116117ENST00000358768p.A420Vc.1259C>TSubstitution - Missense
SLC25A1ENSG00000100075ENST00000215882p.A233Vc.698C>TSubstitution - Missense
SOX12ENSG00000177732ENST00000342665p.M48Vc.142A>GSubstitution - Missense
MCM3APENSG00000160294ENST00000397708p.Q1447Pc.4340A>CSubstitution - Missense
LMAN1ENSG00000074695ENST00000251047p.K304fs*20c.911_912delAADeletion - Frameshift
GPAA1ENSG00000197858ENST00000355091p.L503Pc.1508T>CSubstitution - Missense
NUP205ENSG00000155561ENST00000285968p.Y1105Cc.3314A>GSubstitution - Missense
STAB1ENSG00000010327ENST00000321725p.R1122fs*37c.3364_3365insCInsertion - Frameshift
APPENSG00000142192ENST00000346798p.P654Pc.1962A>GSubstitution - coding silent
UMODL1ENSG00000177398ENST00000408989p.Q1131fs*85c.3392_3393insTCCAInsertion - Frameshift
ENST00000554864_v68p.C258Cc.774C>TSubstitution - coding silent
NOS2ENSG00000007171ENST00000313735p.S671Sc.2013C>TSubstitution - coding silent
MTDHENSG00000147649ENST00000336273p.R580*c.1738C>TSubstitution - Nonsense
PTK2BENSG00000120899ENST00000397497p.E242Gc.725A>GSubstitution - Missense
ZNF236ENSG00000130856ENST00000543926p.R1106Qc.3317G>ASubstitution - Missense
BRD1ENSG00000100425ENST00000216267p.V335Mc.1003G>ASubstitution - Missense
HEXBENSG00000049860ENST00000261416p.S80Nc.239G>ASubstitution - Missense
ERCC6LENSG00000186871ENST00000334463p.C243Cc.729T>CSubstitution - coding silent
ZNF90ENSG00000213988ENST00000418063p.L354fs*1c.1060delTDeletion - Frameshift
PHKA1ENSG00000067177ENST00000373542p.S273Gc.817A>GSubstitution - Missense
COLGALT1ENSG00000130309ENST00000252599p.R213Hc.638G>ASubstitution - Missense
STXBP5LENSG00000145087ENST00000273666p.?c.288-8T>CUnknown
ZNF629ENSG00000102870ENST00000262525p.C519Rc.1555T>CSubstitution - Missense
SAE1ENSG00000142230ENST00000270225p.?c.734-8A>GUnknown
CCDC61ENSG00000104983ENST00000263284p.S28Rc.82A>CSubstitution - Missense
ZNF768ENSG00000169957ENST00000380412p.G481Gc.1443C>TSubstitution - coding silent
MUC17ENSG00000169876ENST00000306151p.R33Sc.99G>TSubstitution - Missense
EML6ENSG00000214595ENST00000356458p.?c.4968+5G>AUnknown
TIA1ENSG00000116001ENST00000433529p.D289Ac.866A>CSubstitution - Missense
SCUBE1ENSG00000159307ENST00000360835p.A951Vc.2852C>TSubstitution - Missense
SREBF2ENSG00000198911ENST00000361204p.A736Ac.2208C>TSubstitution - coding silent
ENST00000272666p.L1678Pc.5033T>CSubstitution - Missense
ENST00000272666p.?c.5904-1G>TUnknown
PCLOENSG00000186472ENST00000333891p.H1262Hc.3786T>CSubstitution - coding silent
ACTR3ENSG00000115091ENST00000263238p.Y125Yc.375T>CSubstitution - coding silent
STXBP5ENSG00000164506ENST00000367481p.I187Tc.560T>CSubstitution - Missense
CDH5ENSG00000179776ENST00000341529p.Y725fs*15c.2166delCDeletion - Frameshift
DYSFENSG00000135636ENST00000410020p.S1147Sc.3441C>TSubstitution - coding silent
PSKH1ENSG00000159792ENST00000291041p.R334Hc.1001G>ASubstitution - Missense
GLB1ENSG00000170266ENST00000307363p.?c.397-8T>CUnknown
IL1R2ENSG00000115590ENST00000393414p.E233fs*6c.689delADeletion - Frameshift
DUS3LENSG00000141994ENST00000309061p.M347Tc.1040T>CSubstitution - Missense
TAF1BENSG00000115750ENST00000263663p.D355Dc.1065T>CSubstitution - coding silent
ZNF211ENSG00000121417ENST00000544273p.R26Rc.78A>GSubstitution - coding silent
HERC6ENSG00000138642ENST00000264346p.S202Lc.605C>TSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.A740Ac.2220T>CSubstitution - coding silent
PKN3ENSG00000160447ENST00000291906p.L604Lc.1810C>TSubstitution - coding silent
EXOC2ENSG00000112685ENST00000230449p.N849fs*9c.2546_2547insAInsertion - Frameshift
SCNN1GENSG00000166828ENST00000300061p.M299Vc.895A>GSubstitution - Missense
CICENSG00000079432ENST00000160740p.P1529fs*>80c.4582delCDeletion - Frameshift
NR4A2ENSG00000153234ENST00000339562p.R225Hc.674G>ASubstitution - Missense
SPATA18ENSG00000163071ENST00000295213p.K172Kc.516G>ASubstitution - coding silent
CHCHD10ENSG00000250479ENST00000484558p.A53Tc.157G>ASubstitution - Missense
NFKBIBENSG00000104825ENST00000313582p.P238Hc.713C>ASubstitution - Missense
PRSS16ENSG00000112812ENST00000230582p.R468Cc.1402C>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000406091p.K1207Rc.3620A>GSubstitution - Missense
ENSG00000249034ENST00000502505p.T36Tc.108G>ASubstitution - coding silent
PCDHA10ENSG00000250120ENST00000307360p.S140Sc.420A>CSubstitution - coding silent
OTTHUMT00000129563.1p.P54Pc.162G>ASubstitution - coding silent
MED23ENSG00000112282ENST00000368068p.T1047Sc.3140C>GSubstitution - Missense
ZNF566ENSG00000186017ENST00000434377p.K309fs*>110c.927delADeletion - Frameshift
PCDHGA7ENSG00000253537ENST00000518325p.T657Tc.1971C>TSubstitution - coding silent
TBXA2RENSG00000006638ENST00000411851p.A52Vc.155C>TSubstitution - Missense
SIENSG00000090402ENST00000264382p.L696Sc.2087T>CSubstitution - Missense
TOB1ENSG00000141232ENST00000499247p.S299Gc.895A>GSubstitution - Missense
WHSC1ENSG00000109685ENST00000382891p.E1344fs*>23c.4028_4029insCInsertion - Frameshift
LPOENSG00000167419ENST00000262290p.N212fs*16c.635_636insAInsertion - Frameshift
DDX17ENSG00000100201ENST00000381633p.D246Dc.738C>TSubstitution - coding silent
APOBEC3CENSG00000244509ENST00000361441p.T52Tc.156G>ASubstitution - coding silent
RASA1ENSG00000145715ENST00000456692p.?c.2160-20_2160>17Unknown
RIF1ENSG00000080345ENST00000444746p.K1505fs*18c.4507delADeletion - Frameshift
USP26ENSG00000134588ENST00000370832p.F348fs*7c.1044delTDeletion - Frameshift
IQSEC1ENSG00000144711ENST00000273221p.P325Sc.973C>TSubstitution - Missense
ERC1ENSG00000082805ENST00000397203p.R396Cc.1186C>TSubstitution - Missense
TNRENSG00000116147ENST00000367674p.S464Sc.1392C>TSubstitution - coding silent
ENST00000328843_v70p.E917Vc.2750A>TSubstitution - Missense
PLECENSG00000178209ENST00000354589p.E4410Gc.13229A>GSubstitution - Missense
LMBR1ENSG00000105983ENST00000354505p.?c.684+6T>CUnknown
PKHD1L1ENSG00000205038ENST00000378402p.?c.12343-7T>GUnknown
SVEP1ENSG00000165124ENST00000302728p.A1472Ac.4416A>GSubstitution - coding silent
KIAA0368ENSG00000136813ENST00000338205p.R622Hc.1865G>ASubstitution - Missense
MMGT1ENSG00000169446ENST00000433339p.S105Tc.313T>ASubstitution - Missense
ERBB2IPENSG00000112851ENST00000284037p.V748Ac.2243T>CSubstitution - Missense
ENST00000446546_v70p.?c.711+4A>GUnknown
GRK6ENSG00000198055ENST00000355472p.A292Ac.876C>TSubstitution - coding silent
SPATA2LENSG00000158792ENST00000335360p.M138Tc.413T>CSubstitution - Missense
CLTCL1ENSG00000070371ENST00000427926p.S525Sc.1575T>CSubstitution - coding silent
ENST00000316490_v65p.D2494Dc.7482C>TSubstitution - coding silent
BRD3ENSG00000169925ENST00000371834p.E25fs*51c.63_64insCInsertion - Frameshift
SYTL5ENSG00000147041ENST00000456733p.G591fs*3c.1770_1771insAInsertion - Frameshift
DPRXENSG00000204595ENST00000376650p.H115Nc.343C>ASubstitution - Missense
FLGENSG00000143631ENST00000368799p.S480Sc.1440T>CSubstitution - coding silent
TRIM49BENSG00000182053ENST00000332682p.?c.411+6C>TUnknown
VWA2ENSG00000165816ENST00000392982p.?c.261+6T>CUnknown
RAB14ENSG00000119396ENST00000373840p.K35fs*18c.105delADeletion - Frameshift
EIF4G1ENSG00000114867ENST00000319274p.R879Cc.2635C>TSubstitution - Missense
DDX60LENSG00000181381ENST00000260184p.R545Wc.1633C>TSubstitution - Missense
MYBPC1ENSG00000196091ENST00000361466p.M761Tc.2282T>CSubstitution - Missense
C1orf101ENSG00000179397ENST00000366534p.V516Ac.1547T>CSubstitution - Missense
SEC31BENSG00000075826ENST00000370345p.P1039fs*5c.3116delCDeletion - Frameshift
RYR2ENSG00000198626ENST00000366574p.H4468Qc.13404C>GSubstitution - Missense
CHUKENSG00000213341ENST00000370397p.E712Gc.2135A>GSubstitution - Missense
ANO1ENSG00000131620ENST00000355303p.?c.1893-7G>AUnknown
DCHS1ENSG00000166341ENST00000299441p.R2170Hc.6509G>ASubstitution - Missense
MYH6ENSG00000197616ENST00000356287p.K1167Tc.3500A>CSubstitution - Missense
COCHENSG00000100473ENST00000382493p.R92fs*3c.270_271delAGDeletion - Frameshift
WHAMMENSG00000156232ENST00000286760p.L598Pc.1793T>CSubstitution - Missense
ANKLE2ENSG00000176915ENST00000357997p.P805Ac.2413C>GSubstitution - Missense
B4GALNT1ENSG00000135454ENST00000341156p.D188Dc.564C>TSubstitution - coding silent
NANOGENSG00000111704ENST00000229307p.M58Vc.172A>GSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.A2278Gc.6833C>GSubstitution - Missense
KBTBD4ENSG00000123444ENST00000526005p.A211Ac.633C>ASubstitution - coding silent
ZSWIM8ENSG00000214655ENST00000398706p.?c.457+4A>GUnknown
PEX16ENSG00000121680ENST00000241041p.?c.695-1G>AUnknown
ENST00000328974p.M323Tc.968T>CSubstitution - Missense
ENST00000300576_v68p.A289Ac.867A>GSubstitution - coding silent
LAMB3ENSG00000196878ENST00000367030p.T38Ic.113C>TSubstitution - Missense
NRP1ENSG00000099250ENST00000374816p.K26Rc.77A>GSubstitution - Missense
PFKPENSG00000067057ENST00000413079p.E125Dc.373G>TSubstitution - Missense
C21orf2ENSG00000160226ENST00000339818p.E148fs*21c.443_444delAGDeletion - Frameshift
TNKSENSG00000173273ENST00000310430p.D804fs*49c.2407delGDeletion - Frameshift
GTPBP4ENSG00000107937ENST00000360803p.R125Hc.374G>ASubstitution - Missense
EPHA1ENSG00000146904ENST00000275815p.I565Lc.1693A>CSubstitution - Missense
FAM155BENSG00000130054ENST00000252338p.N185fs*40c.547delADeletion - Frameshift
WDR81ENSG00000167716ENST00000437219p.H549fs*33c.1640delCDeletion - Frameshift
RHOQENSG00000119729ENST00000238738p.R193fs*2c.570delADeletion - Frameshift
GLYR1ENSG00000140632ENST00000321919p.R381fs*20c.1140delGDeletion - Frameshift
SLFN5ENSG00000166750ENST00000299977p.Q524fs*11c.1565delCDeletion - Frameshift
ZNF606ENSG00000166704ENST00000341164p.L791Pc.2372T>CSubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.Y4079Yc.12237C>TSubstitution - coding silent
PSME4ENSG00000068878ENST00000404125p.F259Lc.775T>CSubstitution - Missense
PLEKHG3ENSG00000126822ENST00000247226p.T839Ac.2515A>GSubstitution - Missense
MTFMTENSG00000103707ENST00000220058p.T276Tc.828G>ASubstitution - coding silent
RALGAPA1ENSG00000174373ENST00000307138p.R1507Cc.4519C>TSubstitution - Missense
USP24ENSG00000162402ENST00000294383p.?c.3538-1G>TUnknown
AGBL4ENSG00000186094ENST00000371839p.P474Qc.1421C>ASubstitution - Missense
ADAMTS17ENSG00000140470ENST00000268070p.Q1090Rc.3269A>GSubstitution - Missense
SHC1ENSG00000160691ENST00000448116p.T235Tc.705C>ASubstitution - coding silent
THBS3ENSG00000169231ENST00000368378p.Y293Hc.877T>CSubstitution - Missense
CAMSAP2ENSG00000118200ENST00000358823p.R1168Wc.3502C>TSubstitution - Missense
IGFN1ENSG00000163395ENST00000335211p.?c.9296-4C>AUnknown
SHC4ENSG00000185634ENST00000332408p.Y196Cc.587A>GSubstitution - Missense
MYO1EENSG00000157483ENST00000288235p.D665Nc.1993G>ASubstitution - Missense
EP400ENSG00000183495ENST00000389561p.T475Tc.1425A>GSubstitution - coding silent
ENST00000377072_v68p.P807Lc.2420C>TSubstitution - Missense
GPR158ENSG00000151025ENST00000376351p.T654Tc.1962T>CSubstitution - coding silent
GP2ENSG00000169347ENST00000381362p.?c.535+10A>GUnknown
EIF3MENSG00000149100ENST00000531120p.Y124Cc.371A>GSubstitution - Missense
MAN2A2ENSG00000196547ENST00000360468p.L588Pc.1763T>CSubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.A1490Vc.4469C>TSubstitution - Missense
NEK9ENSG00000119638ENST00000238616p.P874Hc.2621C>ASubstitution - Missense
MUTYHENSG00000132781ENST00000372098p.T461Ac.1381A>GSubstitution - Missense
TCHHENSG00000159450ENST00000368804p.R1111Wc.3331C>TSubstitution - Missense
HIST2H2BEENSG00000184678ENST00000369155p.A78Ac.234T>CSubstitution - coding silent
PLA2G16ENSG00000176485ENST00000323646p.V60Mc.178G>ASubstitution - Missense
GNL2ENSG00000134697ENST00000373062p.K726fs*>6c.2178delADeletion - Frameshift
RCOR2ENSG00000167771ENST00000301459p.R257Rc.771T>CSubstitution - coding silent
NIT1ENSG00000158793ENST00000368007p.L84Pc.251T>CSubstitution - Missense
COPAENSG00000122218ENST00000368069p.?c.2291-3_2291-2delcaUnknown
NM_032738.3p.A356Ac.1068T>CSubstitution - coding silent
ENST00000321016_v61p.P1258Pc.3774C>TSubstitution - coding silent
IGSF9BENSG00000080854ENST00000321016p.P714Pc.2142C>TSubstitution - coding silent
SCYL3ENSG00000000457ENST00000367771p.E266Gc.797A>GSubstitution - Missense
BACH1ENSG00000156273ENST00000399921p.A665Vc.1994C>TSubstitution - Missense
NSUN3ENSG00000178694ENST00000314622p.G284Sc.850G>ASubstitution - Missense
AFAP1ENSG00000196526ENST00000360265p.R476Cc.1426C>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.R1293Wc.3877C>TSubstitution - Missense
TFF2ENSG00000160181ENST00000291526p.I112Mc.336C>GSubstitution - Missense
CRYAAENSG00000160202ENST00000291554p.S59Sc.177C>TSubstitution - coding silent
FHOD3ENSG00000134775ENST00000257209p.S411Ac.1231T>GSubstitution - Missense
ELP2ENSG00000134759ENST00000350494p.I813Mc.2439A>GSubstitution - Missense
NM_015461.1p.T690Ac.2068A>GSubstitution - Missense
XM_043272.9p.S1528Gc.4582A>GSubstitution - Missense
LGI3ENSG00000168481ENST00000306317p.G534Gc.1602A>GSubstitution - coding silent
POP1ENSG00000104356ENST00000349693p.Q133fs*12c.392delTDeletion - Frameshift
ERI1ENSG00000104626ENST00000250263p.L248Hc.743T>ASubstitution - Missense
NM_032682.3p.S388Gc.1162A>GSubstitution - Missense
CDH4ENSG00000179242ENST00000360469p.T208Tc.624G>ASubstitution - coding silent
BPIFB6ENSG00000167104ENST00000349552p.?c.1143-7C>TUnknown
SLC4A11ENSG00000088836ENST00000380056p.L388Lc.1164G>ASubstitution - coding silent
NM_003685.1p.G410Gc.1230C>GSubstitution - coding silent
SLC40A1ENSG00000138449ENST00000261024p.I195Ic.585T>CSubstitution - coding silent
SPTLC3ENSG00000172296ENST00000399002p.A343Gc.1028C>GSubstitution - Missense
XYLT2ENSG00000015532ENST00000017003p.?c.804+5T>CUnknown
PKN2ENSG00000065243ENST00000370521p.L720fs*2c.2155delTDeletion - Frameshift
TNFRSF25ENSG00000215788ENST00000377782p.R361Hc.1082G>ASubstitution - Missense
DDHD1ENSG00000100523ENST00000323669p.G112_S113insGGc.333_334insGGCGGCInsertion - In frame
LPHN2ENSG00000117114ENST00000370725p.C72Yc.215G>ASubstitution - Missense
GNPNAT1ENSG00000100522ENST00000216410p.?c.154+2T>CUnknown
MCF2LENSG00000126217ENST00000375608p.T466Mc.1397C>TSubstitution - Missense
NUTM1ENSG00000184507ENST00000333756p.R693Ic.2078G>TSubstitution - Missense
LRP11ENSG00000120256ENST00000239367p.T326Mc.977C>TSubstitution - Missense
SYTL3ENSG00000164674ENST00000360448p.H253Rc.758A>GSubstitution - Missense
HIBADHENSG00000106049ENST00000265395p.R331*c.991C>TSubstitution - Nonsense
SYNE1ENSG00000131018ENST00000265368p.T2659Ac.7975A>GSubstitution - Missense
GPR56ENSG00000205336ENST00000379696p.Q208Hc.624G>CSubstitution - Missense
PRSS54ENSG00000103023ENST00000219301p.A271Ac.813C>TSubstitution - coding silent
CNTN4ENSG00000144619ENST00000397459p.?c.374+2T>CUnknown
RBM3ENSG00000102317ENST00000376759p.D144Gc.431A>GSubstitution - Missense
ENST00000316893p.A607Vc.1820C>TSubstitution - Missense
HUWE1ENSG00000086758ENST00000342160p.I4259Vc.12775A>GSubstitution - Missense
XM_497119.1p.M375Ic.1125G>TSubstitution - Missense
PIM2ENSG00000102096ENST00000376509p.A122Tc.364G>ASubstitution - Missense
ELK1ENSG00000126767ENST00000247161p.R29Wc.85C>TSubstitution - Missense
HTRA4ENSG00000169495ENST00000302495p.A319Vc.956C>TSubstitution - Missense
ARAFENSG00000078061ENST00000377045p.G163Rc.487G>ASubstitution - Missense
PIGZENSG00000119227ENST00000412723p.M467Tc.1400T>CSubstitution - Missense
GSTCDENSG00000138780ENST00000515279p.C527Cc.1581T>CSubstitution - coding silent
ZNF512BENSG00000196700ENST00000369888p.T199Tc.597T>CSubstitution - coding silent
ZNF613ENSG00000176024ENST00000293471p.Q75Qc.225A>GSubstitution - coding silent
AOX1ENSG00000138356ENST00000374700p.G1048Gc.3144G>ASubstitution - coding silent
SLC5A6ENSG00000138074ENST00000310574p.?c.734+6T>CUnknown
PARD3BENSG00000116117ENST00000358768p.A420Vc.1259C>TSubstitution - Missense
C2orf44ENSG00000163026ENST00000295148p.L480Lc.1438C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.K7647fs*25c.22941delADeletion - Frameshift
ENST00000356127p.H28569Hc.85707C>TSubstitution - coding silent
CST1ENSG00000170373ENST00000398402p.V81fs*28c.234_235insGInsertion - Frameshift
KCNB2ENSG00000182674ENST00000523207p.E522Ac.1565A>CSubstitution - Missense
SLC39A4ENSG00000147804ENST00000301305p.A578Tc.1732G>ASubstitution - Missense
CLN8ENSG00000182372ENST00000331222p.N277Nc.831C>TSubstitution - coding silent
NAT6ENSG00000243477ENST00000354862p.R170Rc.508A>CSubstitution - coding silent
KCNH4ENSG00000089558ENST00000264661p.Y381Hc.1141T>CSubstitution - Missense
EFTUD2ENSG00000108883ENST00000426333p.E626Kc.1876G>ASubstitution - Missense
OTUD4ENSG00000164164ENST00000454497p.P933Pc.2799T>CSubstitution - coding silent
TAF2ENSG00000064313ENST00000378164p.P241Hc.722C>ASubstitution - Missense
PREPENSG00000085377ENST00000369110p.R488Rc.1464G>ASubstitution - coding silent
DSTENSG00000151914ENST00000244364p.S2110Sc.6330A>GSubstitution - coding silent
ZDHHC11ENSG00000188818ENST00000283441p.I79fs*68c.228_229insGInsertion - Frameshift
ZDHHC11ENSG00000188818ENST00000424784p.I79fs*68c.228_229insGInsertion - Frameshift
SBF1ENSG00000100241ENST00000390679p.R656Qc.1967G>ASubstitution - Missense
ITPR1ENSG00000150995ENST00000357086p.?c.280-4A>GUnknown
XM_371474.2p.T1409Ac.4225A>GSubstitution - Missense
XM_371474.2p.D221Nc.661G>ASubstitution - Missense
FASTKD3ENSG00000124279ENST00000264669p.F351fs*5c.1053delTDeletion - Frameshift
MAP1BENSG00000131711ENST00000296755p.S1860Nc.5579G>ASubstitution - Missense
JAK3ENSG00000105639ENST00000458235p.P37Ac.109C>GSubstitution - Missense
TUBGCP6ENSG00000128159ENST00000248846p.?c.4954+9C>TUnknown
ATRXENSG00000085224ENST00000373344p.Q2421*c.7261C>TSubstitution - Nonsense
TAMM41ENSG00000144559ENST00000273037p.A163Tc.487G>ASubstitution - Missense
MRPL3ENSG00000114686ENST00000264995p.Y203Yc.609T>CSubstitution - coding silent
AMER3ENSG00000178171ENST00000321420p.G6Vc.17G>TSubstitution - Missense
ENST00000305663p.R91fs*38c.263_264insCTInsertion - Frameshift
CCNT2ENSG00000082258ENST00000264157p.H403Qc.1209T>ASubstitution - Missense
KLHL30ENSG00000168427ENST00000409223p.S117fs*84c.345delCDeletion - Frameshift
CCDC108ENSG00000181378ENST00000341552p.L1043Lc.3129C>TSubstitution - coding silent
SPP2ENSG00000072080ENST00000373368p.?c.333+3A>GUnknown
SH3KBP1ENSG00000147010ENST00000397821p.P386fs*45c.1145_1146insAGInsertion - Frameshift
ADAM22ENSG00000008277ENST00000265727p.D653Nc.1957G>ASubstitution - Missense
FLNAENSG00000196924ENST00000369850p.A640Ac.1920T>GSubstitution - coding silent
OR1J4ENSG00000239590ENST00000340750p.N172Tc.515A>CSubstitution - Missense
FGF12ENSG00000114279ENST00000454309p.S226fs*7c.676delADeletion - Frameshift
DDX60LENSG00000181381ENST00000260184p.Y1512Hc.4534T>CSubstitution - Missense
ENST00000342610p.Y280Hc.838T>CSubstitution - Missense
FAM53AENSG00000174137ENST00000308132p.E43Dc.129G>TSubstitution - Missense
UIMC1ENSG00000087206ENST00000377227p.?c.358-10C>GUnknown
VWA7ENSG00000204396ENST00000375688p.D489Dc.1467C>TSubstitution - coding silent
CHST4ENSG00000140835ENST00000338482p.P74Pc.222C>TSubstitution - coding silent
TCF3ENSG00000071564ENST00000344749p.P647Tc.1939C>ASubstitution - Missense
SCNN1BENSG00000168447ENST00000343070p.Y105Hc.313T>CSubstitution - Missense
STAM2ENSG00000115145ENST00000263904p.Y371Cc.1112A>GSubstitution - Missense
PI4KAENSG00000241973ENST00000572273p.L491Mc.1471C>ASubstitution - Missense
SCN3AENSG00000153253ENST00000409101p.?c.384-7A>GUnknown
GPR112ENSG00000156920ENST00000394143p.T445fs*26c.1333_1334insAInsertion - Frameshift
MAP4K1ENSG00000104814ENST00000396857p.A72Tc.214G>ASubstitution - Missense
LTBENSG00000227507ENST00000429299p.P61Hc.182C>ASubstitution - Missense
ZMIZ2ENSG00000122515ENST00000309315p.S38Sc.114G>ASubstitution - coding silent
WDR90ENSG00000161996ENST00000293879p.V385Mc.1153G>ASubstitution - Missense
ENST00000274705p.G563Sc.1687G>ASubstitution - Missense
HARSENSG00000170445ENST00000504156p.?c.1312-2A>CUnknown
SGK1ENSG00000118515ENST00000528577p.E211Dc.633G>TSubstitution - Missense
WDR87ENSG00000171804ENST00000303868p.P1701Pc.5103C>ASubstitution - coding silent
CATSPERGENSG00000099338ENST00000409235p.P884fs*18c.2646delCDeletion - Frameshift
OSTF1ENSG00000134996ENST00000346234p.F126Sc.377T>CSubstitution - Missense
TLE1ENSG00000196781ENST00000376499p.E485Gc.1454A>GSubstitution - Missense
RIMS2ENSG00000176406ENST00000436393p.G404fs*3c.1203delADeletion - Frameshift
ZNF84ENSG00000198040ENST00000392319p.K737fs*>2c.2205delADeletion - Frameshift
HNF1AENSG00000135100ENST00000257555p.G292fs*25c.872_873insCInsertion - Frameshift
RHOAENSG00000067560ENST00000418115p.R5Qc.14G>ASubstitution - Missense
IKBKAPENSG00000070061ENST00000374647p.R379Wc.1135C>TSubstitution - Missense
AKAP9ENSG00000127914ENST00000356239p.R3310Wc.9928C>TSubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.?c.12343-8T>AUnknown
FRMD3ENSG00000172159ENST00000376434p.Q83Rc.248A>GSubstitution - Missense
KIFC1ENSG00000237649ENST00000450504p.S129Fc.386C>TSubstitution - Missense
SNX6ENSG00000129515ENST00000362031p.?c.195+2T>CUnknown
SLC25A10ENSG00000183048ENST00000331531p.N140Tc.419A>CSubstitution - Missense
ENTHD2ENSG00000167302ENST00000374769p.T369Tc.1107G>ASubstitution - coding silent
CACNA1IENSG00000100346ENST00000400164p.R416Rc.1248G>ASubstitution - coding silent
CBLBENSG00000114423ENST00000394027p.D470Nc.1408G>ASubstitution - Missense
CLTCL1ENSG00000070371ENST00000427926p.S903Rc.2709C>ASubstitution - Missense
COL20A1ENSG00000101203ENST00000422202p.V969Mc.2905G>ASubstitution - Missense
DPP8ENSG00000074603ENST00000341861p.Q458fs*29c.1368delTDeletion - Frameshift
SDK2ENSG00000069188ENST00000392650p.R2017fs*28c.6048delCDeletion - Frameshift
ZNF737ENSG00000237440ENST00000427401p.T301fs*4c.901_902insAInsertion - Frameshift
LILRB3ENSG00000204577ENST00000346401p.R369Sc.1107A>CSubstitution - Missense
FN1ENSG00000115414ENST00000426059p.?c.845-9T>CUnknown
EIF4G3ENSG00000075151ENST00000356916p.?c.1034-6C>TUnknown
UCHL5ENSG00000116750ENST00000421683p.W49*c.147G>ASubstitution - Nonsense
DNAJC6ENSG00000116675ENST00000371069p.P702Rc.2105C>GSubstitution - Missense
ODF2LENSG00000122417ENST00000294678p.C327Fc.980G>TSubstitution - Missense
ZNF687ENSG00000143373ENST00000368879p.P192Lc.575C>TSubstitution - Missense
IRS2ENSG00000185950ENST00000375856p.D275Vc.824A>TSubstitution - Missense
ANKS1BENSG00000185046ENST00000329257p.E782Dc.2346A>CSubstitution - Missense
ATG4CENSG00000125703ENST00000414558p.G65Gc.195T>CSubstitution - coding silent
EDA2RENSG00000131080ENST00000450752p.R14Wc.40C>TSubstitution - Missense
TCF7L2ENSG00000148737ENST00000352065p.V346Ic.1036G>ASubstitution - Missense
TRAPPC9ENSG00000167632ENST00000389328p.A731Ac.2193G>ASubstitution - coding silent
PTPRFENSG00000142949ENST00000422171p.S407Sc.1221G>ASubstitution - coding silent
AGAP2ENSG00000135439ENST00000547588p.A232Ac.696T>GSubstitution - coding silent
LRRIQ1ENSG00000133640ENST00000393217p.F822Lc.2464T>CSubstitution - Missense
CEP290ENSG00000198707ENST00000552810p.K437Nc.1311G>TSubstitution - Missense
AVILENSG00000135407ENST00000257861p.A732Vc.2195C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.E7853Qc.23557G>CSubstitution - Missense
CRY2ENSG00000121671ENST00000443527p.S443Sc.1329T>CSubstitution - coding silent
SCN3BENSG00000166257ENST00000299333p.R44Hc.131G>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000286627p.Y676fs*7c.2019_2020insTInsertion - Frameshift
ITIH5ENSG00000123243ENST00000397146p.L7Lc.21G>ASubstitution - coding silent
ENST00000326184p.I738Tc.2213T>CSubstitution - Missense
ENST00000398840p.A180Ac.540T>CSubstitution - coding silent
TARBP2ENSG00000139546ENST00000266987p.T335Ac.1003A>GSubstitution - Missense
SPATA17ENSG00000162814ENST00000366933p.?c.68+6T>CUnknown
CDC42BPAENSG00000143776ENST00000366766p.K913Kc.2739A>GSubstitution - coding silent
SRGAP2ENSG00000163486ENST00000295713p.N547Sc.1640A>GSubstitution - Missense
CDC42BPAENSG00000143776ENST00000334218p.R1675Rc.5025C>TSubstitution - coding silent
ITGB1ENSG00000150093ENST00000396033p.Y219Cc.656A>GSubstitution - Missense
CCNYENSG00000108100ENST00000374706p.Y148Yc.444C>TSubstitution - coding silent
ASCL4ENSG00000187855ENST00000342331p.L37fs*53c.105delCDeletion - Frameshift
ULK1ENSG00000177169ENST00000321867p.A125Tc.373G>ASubstitution - Missense
THAP3ENSG00000041988ENST00000054650p.K201Tc.602A>CSubstitution - Missense
ANKRD23ENSG00000163126ENST00000318357p.R93fs*24c.276delCDeletion - Frameshift
DNAH2ENSG00000183914ENST00000389173p.K4326fs*84c.12970delCDeletion - Frameshift
FCRL3ENSG00000160856ENST00000368184p.R272fs*3c.814delADeletion - Frameshift
BCKDHAENSG00000248098ENST00000269980p.R40fs*23c.111delCDeletion - Frameshift
TRIOENSG00000038382ENST00000344204p.L2031fs*1c.6085delTDeletion - Frameshift
ZBTB33ENSG00000177485ENST00000326624p.E329Ec.987G>ASubstitution - coding silent
FERD3LENSG00000146618ENST00000275461p.R125Wc.373C>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.R1472Cc.4414C>TSubstitution - Missense
NUBP2ENSG00000095906ENST00000262302p.R40Cc.118C>TSubstitution - Missense
SEL1L2ENSG00000101251ENST00000284951p.H600Hc.1800C>TSubstitution - coding silent
MYOFENSG00000138119ENST00000359263p.T1554Tc.4662G>ASubstitution - coding silent
TNRENSG00000116147ENST00000367674p.T115Ac.343A>GSubstitution - Missense
ST8SIA6ENSG00000148488ENST00000377602p.A252fs*40c.745_746insAInsertion - Frameshift
GRIA4ENSG00000152578ENST00000282499p.?c.1054-2A>GUnknown
CARSENSG00000110619ENST00000380525p.F170Lc.508T>CSubstitution - Missense
MUC2ENSG00000198788ENST00000441003p.A115Ac.345C>ASubstitution - coding silent
ANO3ENSG00000134343ENST00000256737p.?c.1531-4A>GUnknown
TMEM63CENSG00000165548ENST00000298351p.A129Tc.385G>ASubstitution - Missense
FBXO18ENSG00000134452ENST00000379999p.H67Yc.199C>TSubstitution - Missense
RNF10ENSG00000022840ENST00000325954p.R38fs*82c.109delCDeletion - Frameshift
OLFML3ENSG00000116774ENST00000320334p.L276Pc.827T>CSubstitution - Missense
NOTCH2ENSG00000134250ENST00000256646p.R869Wc.2605C>TSubstitution - Missense
ENST00000359762p.N273Sc.818A>GSubstitution - Missense
STARD9ENSG00000159433ENST00000290607p.A328Ac.984T>GSubstitution - coding silent
CTNNA3ENSG00000183230ENST00000433211p.I447Vc.1339A>GSubstitution - Missense
ATP1A2ENSG00000018625ENST00000361216p.R421*c.1261C>TSubstitution - Nonsense
OPCMLENSG00000183715ENST00000524381p.T147Ic.440C>TSubstitution - Missense
KLENSG00000133116ENST00000380099p.H552Pc.1655A>CSubstitution - Missense
PTPRUENSG00000060656ENST00000460170p.?c.1564-8G>AUnknown
ABCD2ENSG00000173208ENST00000308666p.I135Ic.405T>CSubstitution - coding silent
CEP57ENSG00000166037ENST00000325542p.Q479Hc.1437G>CSubstitution - Missense
LRRK2ENSG00000188906ENST00000298910p.M1431Tc.4292T>CSubstitution - Missense
ENTPD7ENSG00000198018ENST00000370489p.Y507Cc.1520A>GSubstitution - Missense
GBF1ENSG00000107862ENST00000369983p.T394Tc.1182A>GSubstitution - coding silent
ACIN1ENSG00000100813ENST00000338631p.R169Hc.506G>ASubstitution - Missense
ZFHX2ENSG00000136367ENST00000419474p.G1813fs*23c.5436_5437insTInsertion - Frameshift
TENM4ENSG00000149256ENST00000278550p.E2714fs*16c.8140delGDeletion - Frameshift
PCNXL2ENSG00000135749ENST00000430153p.A224fs*14c.670delGDeletion - Frameshift
DDNENSG00000181418ENST00000421952p.Q689*c.2065C>TSubstitution - Nonsense
KCNJ8ENSG00000121361ENST00000240662p.T234Ac.700A>GSubstitution - Missense
KIAA1045ENSG00000122733ENST00000242315p.I384Ic.1152C>TSubstitution - coding silent
MAMDC2ENSG00000165072ENST00000377182p.N182Nc.546C>TSubstitution - coding silent
DLGAP4ENSG00000080845ENST00000340491p.R414Hc.1241G>ASubstitution - Missense
TMPRSS9ENSG00000178297ENST00000332578p.A1048Pc.3142G>CSubstitution - Missense
NM_015691.2p.N984Nc.2952T>CSubstitution - coding silent
SEPT9ENSG00000184640ENST00000329047p.K273Tc.818A>CSubstitution - Missense
HABP4ENSG00000130956ENST00000375249p.?c.513-6T>CUnknown
H2BFMENSG00000101812ENST00000243297p.Y166Cc.497A>GSubstitution - Missense
NM_003685.1p.E165Ec.495A>GSubstitution - coding silent
TENM1ENSG00000009694ENST00000371130p.V1782Ac.5345T>CSubstitution - Missense
ANGPTL4ENSG00000167772ENST00000301455p.R180Cc.538C>TSubstitution - Missense
XPNPEP2ENSG00000122121ENST00000371106p.F588Sc.1763T>CSubstitution - Missense
OR13H1ENSG00000171054ENST00000338616p.Q231Hc.693G>TSubstitution - Missense
PIKFYVEENSG00000115020ENST00000264380p.D12Gc.35A>GSubstitution - Missense
SSFA2ENSG00000138434ENST00000320370p.V363Ac.1088T>CSubstitution - Missense
ENST00000360678p.P339Pc.1017T>GSubstitution - coding silent
SPATA20ENSG00000006282ENST00000006658p.?c.863-1G>AUnknown
MBTPS1ENSG00000140943ENST00000343411p.P748Lc.2243C>TSubstitution - Missense
REREENSG00000142599ENST00000400908p.A1519Vc.4556C>TSubstitution - Missense
OR2T2ENSG00000196240ENST00000342927p.A39Ac.117T>GSubstitution - coding silent
TLE3ENSG00000140332ENST00000317509p.I600Vc.1798A>GSubstitution - Missense
ENST00000375815p.?c.871-8G>CUnknown
LIFRENSG00000113594ENST00000263409p.I224Ic.672T>CSubstitution - coding silent
TMEM260ENSG00000070269ENST00000261556p.L698Lc.2094G>ASubstitution - coding silent
DDX24ENSG00000089737ENST00000330836p.S590Nc.1769G>ASubstitution - Missense
SQRDLENSG00000137767ENST00000260324p.?c.1049-1G>AUnknown
ITFG2ENSG00000111203ENST00000228799p.C279Yc.836G>ASubstitution - Missense
LAX1ENSG00000122188ENST00000442561p.T325Kc.974C>ASubstitution - Missense
CACNA1SENSG00000081248ENST00000362061p.P1431Pc.4293C>ASubstitution - coding silent
RNF111ENSG00000157450ENST00000434298p.A525Ac.1575T>CSubstitution - coding silent
HEPHL1ENSG00000181333ENST00000315765p.S402Tc.1205G>CSubstitution - Missense
RASAL2ENSG00000075391ENST00000462775p.P860Pc.2580A>GSubstitution - coding silent
COL20A1ENSG00000101203ENST00000358894p.V962Mc.2884G>ASubstitution - Missense
ISXENSG00000175329ENST00000308700p.R83Wc.247C>TSubstitution - Missense
ZNF83ENSG00000167766ENST00000301096p.G369Dc.1106G>ASubstitution - Missense
RGS11ENSG00000076344ENST00000397770p.L394Lc.1182G>ASubstitution - coding silent
FOXL1ENSG00000176678ENST00000320241p.A36Sc.106G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.S26125fs*2c.78372_78373insAInsertion - Frameshift
TUBB6ENSG00000176014ENST00000317702p.R318Hc.953G>ASubstitution - Missense
FAM210AENSG00000177150ENST00000322247p.R14Cc.40C>TSubstitution - Missense
ZCCHC2ENSG00000141664ENST00000269499p.A842Tc.2524G>ASubstitution - Missense
ENST00000357934p.?c.2094+10G>AUnknown
PLECENSG00000178209ENST00000436759p.R623Qc.1868G>ASubstitution - Missense
CALD1ENSG00000122786ENST00000361675p.R388Cc.1162C>TSubstitution - Missense
CBR3ENSG00000159231ENST00000290354p.A117fs*3c.341_342insTInsertion - Frameshift
KIF13AENSG00000137177ENST00000378814p.A364Vc.1091C>TSubstitution - Missense
RBM47ENSG00000163694ENST00000319592p.R111Rc.333C>TSubstitution - coding silent
KRT222ENSG00000213424ENST00000394052p.A202Ac.606A>GSubstitution - coding silent
PPLENSG00000118898ENST00000345988p.T1591Mc.4772C>TSubstitution - Missense
ROBO2ENSG00000185008ENST00000461745p.P1241Lc.3722C>TSubstitution - Missense
NACC1ENSG00000160877ENST00000292431p.T393Mc.1178C>TSubstitution - Missense
RNF103ENSG00000239305ENST00000237455p.I296Ic.888T>CSubstitution - coding silent
ELP2ENSG00000134759ENST00000358232p.I818Mc.2454A>GSubstitution - Missense
SCN4AENSG00000007314ENST00000435607p.V924Vc.2772G>ASubstitution - coding silent
TRPM3ENSG00000083067ENST00000423814p.E623Gc.1868A>GSubstitution - Missense
KANK1ENSG00000107104ENST00000382303p.D941Gc.2822A>GSubstitution - Missense
PBKENSG00000168078ENST00000301905p.H58Hc.174T>CSubstitution - coding silent
SREK1ENSG00000153914ENST00000380918p.R317Tc.950G>CSubstitution - Missense
NCANENSG00000130287ENST00000252575p.P114Sc.340C>TSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.Q2421*c.7261C>TSubstitution - Nonsense
ASTE1ENSG00000034533ENST00000264992p.E327Dc.981A>TSubstitution - Missense
GRWD1ENSG00000105447ENST00000253237p.C66Yc.197G>ASubstitution - Missense
ENST00000396750p.R153Hc.458G>ASubstitution - Missense
PIK3R4ENSG00000196455ENST00000356763p.F273fs*6c.818delTDeletion - Frameshift
STK36ENSG00000163482ENST00000295709p.?c.1916-7T>AUnknown
COL6A3ENSG00000163359ENST00000295550p.C3137Yc.9410G>ASubstitution - Missense
XM_051221.5p.A592Tc.1774G>ASubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.T24Ic.71C>TSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.T1685Tc.5055G>ASubstitution - coding silent
ABCB5ENSG00000004846ENST00000258738p.Y305Hc.913T>CSubstitution - Missense
PCDH10ENSG00000138650ENST00000264360p.L758Ic.2272C>ASubstitution - Missense
DROSHAENSG00000113360ENST00000511367p.R1213Cc.3637C>TSubstitution - Missense
MAP3K5ENSG00000197442ENST00000359015p.V1223Mc.3667G>ASubstitution - Missense
CAPN7ENSG00000131375ENST00000253693p.V618fs*22c.1846delADeletion - Frameshift
GADL1ENSG00000144644ENST00000282538p.V67Ac.200T>CSubstitution - Missense
PEG3ENSG00000198300ENST00000423103p.N755Nc.2265C>TSubstitution - coding silent
ABCA6ENSG00000154262ENST00000284425p.E659Ec.1977G>ASubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.L1138Lc.3414C>ASubstitution - coding silent
C2orf16ENSG00000221843ENST00000408964p.S1484Gc.4450A>GSubstitution - Missense
TNK2ENSG00000061938ENST00000333602p.Y859Sc.2576A>CSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.Y4557Hc.13669T>CSubstitution - Missense
PIGXENSG00000163964ENST00000314118p.R37Hc.110G>ASubstitution - Missense
PRPF6ENSG00000101161ENST00000266079p.S853Nc.2558G>ASubstitution - Missense
DAZAP1ENSG00000071626ENST00000336761p.P258fs*119c.770_771insCInsertion - Frameshift
NWD1ENSG00000188039ENST00000339803p.L202fs*20c.604_605insCInsertion - Frameshift
DPP6ENSG00000130226ENST00000404039p.N340Sc.1019A>GSubstitution - Missense
HIPK4ENSG00000160396ENST00000291823p.V171Ac.512T>CSubstitution - Missense
VARS2ENSG00000137411ENST00000321897p.E418Vc.1253A>TSubstitution - Missense
MYO10ENSG00000145555ENST00000274203p.?c.3433-7G>TUnknown
BCAP31ENSG00000185825ENST00000441714p.V8Ic.22G>ASubstitution - Missense
XM_372267.3p.D195Nc.583G>ASubstitution - Missense
ENSG00000272514ENST00000369562p.I243Vc.727A>GSubstitution - Missense
ENST00000296885p.I243Vc.727A>GSubstitution - Missense
MDN1ENSG00000112159ENST00000369393p.R3141Qc.9422G>ASubstitution - Missense
ZNF260ENSG00000254004ENST00000523638p.T348Sc.1043C>GSubstitution - Missense
PCDHGB1ENSG00000254221ENST00000523390p.V604Mc.1810G>ASubstitution - Missense
HPNENSG00000105707ENST00000392226p.C204Cc.612C>TSubstitution - coding silent
PPP2R2BENSG00000156475ENST00000336640p.T225Mc.674C>TSubstitution - Missense
STXBP4ENSG00000166263ENST00000376352p.I103Mc.309A>GSubstitution - Missense
CYP4V2ENSG00000145476ENST00000378802p.Y84Cc.251A>GSubstitution - Missense
KIF3AENSG00000131437ENST00000378735p.R674*c.2020C>TSubstitution - Nonsense
FIG4ENSG00000112367ENST00000230124p.V527Dc.1580T>ASubstitution - Missense
PRDM1ENSG00000057657ENST00000369096p.R112Cc.334C>TSubstitution - Missense
F13A1ENSG00000124491ENST00000264870p.A163Vc.488C>TSubstitution - Missense
GRIK2ENSG00000164418ENST00000421544p.A494Vc.1481C>TSubstitution - Missense
GRIK2ENSG00000164418ENST00000318991p.A494Vc.1481C>TSubstitution - Missense
RSPH4AENSG00000111834ENST00000229554p.D708Dc.2124T>CSubstitution - coding silent
CNDP2ENSG00000133313ENST00000324262p.T428Mc.1283C>TSubstitution - Missense
TRPC7ENSG00000069018ENST00000513104p.R218Rc.654C>TSubstitution - coding silent
GPR98ENSG00000164199ENST00000405460p.T4543Nc.13628C>ASubstitution - Missense
MLC1ENSG00000100427ENST00000395876p.A323Tc.967G>ASubstitution - Missense
TOPAZ1ENSG00000173769ENST00000309765p.L1167Ic.3499C>ASubstitution - Missense
TTLL8ENSG00000138892ENST00000433387p.A739Vc.2216C>TSubstitution - Missense
SRPK1ENSG00000096063ENST00000373825p.L608Ic.1822C>ASubstitution - Missense
SMPD3ENSG00000103056ENST00000219334p.N269Nc.807C>TSubstitution - coding silent
RABL6ENSG00000196642ENST00000435930p.R149Hc.446G>ASubstitution - Missense
FILIP1ENSG00000118407ENST00000393004p.L376Pc.1127T>CSubstitution - Missense
APBB1ENSG00000166313ENST00000389906p.?c.1382+2T>CUnknown
AKAP1ENSG00000121057ENST00000314126p.A348Vc.1043C>TSubstitution - Missense
CLUL1ENSG00000079101ENST00000338387p.?c.1398-6T>GUnknown
BOLA3ENSG00000163170ENST00000295326p.T37Ac.109A>GSubstitution - Missense
UNC50ENSG00000115446ENST00000409975p.R59Qc.176G>ASubstitution - Missense
TMEM40ENSG00000088726ENST00000431022p.?c.731-8C>TUnknown
BCAR1ENSG00000050820ENST00000393422p.E435Ec.1305A>GSubstitution - coding silent
LSM14BENSG00000149657ENST00000400318p.A153Vc.458C>TSubstitution - Missense
RTFDC1ENSG00000022277ENST00000357348p.V61Lc.181G>TSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.P2545fs*86c.7630delCDeletion - Frameshift
GRM8ENSG00000179603ENST00000358373p.H720fs*12c.2158delCDeletion - Frameshift
ZNF628ENSG00000197483ENST00000598519p.G807fs*9c.2415delGDeletion - Frameshift
ARHGAP35ENSG00000160007ENST00000404338p.V1459Ic.4375G>ASubstitution - Missense
RPGRIP1ENSG00000092200ENST00000206660p.A513Tc.1537G>ASubstitution - Missense
OR9Q1ENSG00000186509ENST00000335397p.N285Kc.855T>GSubstitution - Missense
OR4C15ENSG00000181939ENST00000314644p.P314Hc.941C>ASubstitution - Missense
DENND1AENSG00000119522ENST00000394219p.?c.1203+1G>AUnknown
RC3H2ENSG00000056586ENST00000423239p.A183Vc.548C>TSubstitution - Missense
ABCB11ENSG00000073734ENST00000263817p.E197Vc.590A>TSubstitution - Missense
ECE2ENSG00000145194ENST00000402825p.G712Gc.2136T>CSubstitution - coding silent
HRGENSG00000113905ENST00000232003p.F519fs*>7c.1552delTDeletion - Frameshift
CHRDENSG00000090539ENST00000204604p.Y567Hc.1699T>CSubstitution - Missense
DXOENSG00000204348ENST00000375349p.P248fs*28c.743delCDeletion - Frameshift
ZBTB12ENSG00000204366ENST00000375527p.A163Tc.487G>ASubstitution - Missense
SCDENSG00000099194ENST00000370355p.R188Rc.564C>TSubstitution - coding silent
WNK1ENSG00000060237ENST00000537687p.F1206Lc.3616T>CSubstitution - Missense
REC8ENSG00000100918ENST00000311457p.G535Gc.1605T>CSubstitution - coding silent
LPXNENSG00000110031ENST00000528954p.P163Pc.489G>ASubstitution - coding silent
CHFRENSG00000072609ENST00000432561p.R278Cc.832C>TSubstitution - Missense
PYHIN1ENSG00000163564ENST00000368140p.Q397Rc.1190A>GSubstitution - Missense
ENST00000371829p.D332Gc.995A>GSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.D2147Gc.6440A>GSubstitution - Missense
ISLR2ENSG00000167178ENST00000361742p.V220fs*18c.654delGDeletion - Frameshift
BMS1ENSG00000165733ENST00000374518p.T661Mc.1982C>TSubstitution - Missense
EIF4G3ENSG00000075151ENST00000374937p.?c.674-6C>TUnknown
SETDB2ENSG00000136169ENST00000317257p.E211Dc.633G>TSubstitution - Missense
CDH6ENSG00000113361ENST00000265071p.G298Ec.893G>ASubstitution - Missense
CASD1ENSG00000127995ENST00000297273p.A543fs*13c.1619delADeletion - Frameshift
SHPRHENSG00000146414ENST00000438092p.G458fs*26c.1371delADeletion - Frameshift
ROBO1ENSG00000169855ENST00000464233p.F755fs*28c.2265delTDeletion - Frameshift
ROBO1ENSG00000169855ENST00000464233p.F755fs*28c.2265delTDeletion - Frameshift
UHRF1BP1ENSG00000065060ENST00000192788p.I1333fs*20c.3990delCDeletion - Frameshift
LINGO4ENSG00000213171ENST00000368820p.P383fs*14c.1148delCDeletion - Frameshift
GALNT6ENSG00000139629ENST00000356317p.R465Rc.1395A>GSubstitution - coding silent
ANPEPENSG00000166825ENST00000300060p.Q881Hc.2643G>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.R1472Cc.4414C>TSubstitution - Missense
API5ENSG00000166181ENST00000531273p.R518Cc.1552C>TSubstitution - Missense
CGAENSG00000135346ENST00000369582p.A105Ac.315G>ASubstitution - coding silent
ZP4ENSG00000116996ENST00000366570p.V348Mc.1042G>ASubstitution - Missense
PTPN21ENSG00000070778ENST00000328736p.A482Ac.1446C>ASubstitution - coding silent
ZNF330ENSG00000109445ENST00000262990p.K5fs*18c.7delADeletion - Frameshift
AKAP6ENSG00000151320ENST00000280979p.L1499Fc.4495C>TSubstitution - Missense
BICD1ENSG00000151746ENST00000281474p.R566Qc.1697G>ASubstitution - Missense
ENST00000322367p.R562Wc.1684C>TSubstitution - Missense
FLGENSG00000143631ENST00000368799p.D479Ec.1437C>GSubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.R1027Wc.3079C>TSubstitution - Missense
ST5ENSG00000166444ENST00000534127p.I887Ic.2661C>TSubstitution - coding silent
MYBPHENSG00000133055ENST00000255416p.L276Mc.826C>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369348p.?c.441+3A>GUnknown
DENND5AENSG00000184014ENST00000328194p.?c.2522-10T>CUnknown
IGSF22ENSG00000179057ENST00000513874p.V567Lc.1699G>CSubstitution - Missense
TNRENSG00000116147ENST00000367674p.L332Lc.996G>ASubstitution - coding silent
GNAT2ENSG00000134183ENST00000351050p.D238Dc.714C>TSubstitution - coding silent
RGS18ENSG00000150681ENST00000367460p.T20fs*23c.52_53insAInsertion - Frameshift
OCLMENSG00000262180ENST00000574641p.I40Tc.119T>CSubstitution - Missense
UCHL5ENSG00000116750ENST00000367455p.W58*c.174G>ASubstitution - Nonsense
KIAA1217ENSG00000120549ENST00000376454p.P496fs*26c.1482delCDeletion - Frameshift
MYO3AENSG00000095777ENST00000543632p.Y207Hc.619T>CSubstitution - Missense
CARSENSG00000110619ENST00000397114p.P560Pc.1680G>ASubstitution - coding silent
C14orf166BENSG00000100565ENST00000393774p.P458Pc.1374C>GSubstitution - coding silent
WDR66ENSG00000158023ENST00000288912p.K371Nc.1113G>TSubstitution - Missense
SZRD1ENSG00000055070ENST00000401088p.E24Kc.70G>ASubstitution - Missense
STARD9ENSG00000159433ENST00000290607p.A2352Ac.7056T>GSubstitution - coding silent
TRPM1ENSG00000134160ENST00000397795p.T835Tc.2505A>GSubstitution - coding silent
ENST00000415091p.K173Ec.517A>GSubstitution - Missense
MRPS15ENSG00000116898ENST00000373116p.Q60*c.178C>TSubstitution - Nonsense
ZNF441ENSG00000197044ENST00000357901p.S24Pc.70T>CSubstitution - Missense
CNBD1ENSG00000176571ENST00000518476p.T419Nc.1256C>ASubstitution - Missense
MMP16ENSG00000156103ENST00000286614p.Q70Pc.209A>CSubstitution - Missense
CDC37L1ENSG00000106993ENST00000381854p.T149Ac.445A>GSubstitution - Missense
TOPORSENSG00000197579ENST00000360538p.Y761Hc.2281T>CSubstitution - Missense
RTFDC1ENSG00000022277ENST00000023939p.V31Lc.91G>TSubstitution - Missense
NM_019888.2p.E9Vc.26A>TSubstitution - Missense
CSE1LENSG00000124207ENST00000262982p.?c.330+9G>AUnknown
ENST00000246798p.G91Gc.273C>TSubstitution - coding silent
TMC6ENSG00000141524ENST00000322914p.N312Nc.936C>TSubstitution - coding silent
UBE2AENSG00000077721ENST00000371558p.?c.125+8T>CUnknown
ST18ENSG00000147488ENST00000276480p.N428Sc.1283A>GSubstitution - Missense
PARD3BENSG00000116117ENST00000351153p.R843Hc.2528G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.P3408Lc.10223C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.P3362Lc.10085C>TSubstitution - Missense
MINK1ENSG00000141503ENST00000355280p.K452Rc.1355A>GSubstitution - Missense
CRHR1ENSG00000120088ENST00000314537p.N255Nc.765T>CSubstitution - coding silent
XYLT2ENSG00000015532ENST00000017003p.D861Dc.2583C>TSubstitution - coding silent
PLEKHN1ENSG00000187583ENST00000379409p.R608Gc.1822A>GSubstitution - Missense
MEIS2ENSG00000134138ENST00000424352p.G25Rc.73G>ASubstitution - Missense
FAM98BENSG00000171262ENST00000491535p.M197Vc.589A>GSubstitution - Missense
RTF1ENSG00000137815ENST00000389629p.L252fs*22c.753_754insAInsertion - Frameshift
PLEKHH1ENSG00000054690ENST00000329153p.T444Ac.1330A>GSubstitution - Missense
CCDC88CENSG00000015133ENST00000331194p.V483Ic.1447G>ASubstitution - Missense
ENST00000341288p.T209Tc.627T>GSubstitution - coding silent
HEATR5AENSG00000129493ENST00000389961p.I1426Ic.4278C>TSubstitution - coding silent
PEG3ENSG00000198300ENST00000326441p.S861Sc.2583C>ASubstitution - coding silent
SLC9A2ENSG00000115616ENST00000233969p.A626Ac.1878C>TSubstitution - coding silent
GATA1ENSG00000102145ENST00000376670p.N226Dc.676A>GSubstitution - Missense
ENST00000316893p.V1518Mc.4552G>ASubstitution - Missense
PPP1R3FENSG00000049769ENST00000055335p.G527Cc.1579G>TSubstitution - Missense
KAT6AENSG00000083168ENST00000265713p.?c.2228+7A>GUnknown
BIRC6ENSG00000115760ENST00000421745p.A740Ac.2220T>CSubstitution - coding silent
MYT1ENSG00000196132ENST00000536311p.R897Hc.2690G>ASubstitution - Missense
ZMAT5ENSG00000100319ENST00000344318p.N26Nc.78C>TSubstitution - coding silent
ZNF841ENSG00000197608ENST00000359973p.Y234Cc.701A>GSubstitution - Missense
GRIN2AENSG00000183454ENST00000396573p.Y1411Cc.4232A>GSubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.Q482Rc.1445A>GSubstitution - Missense
ITGA6ENSG00000091409ENST00000409080p.I379Ic.1137T>CSubstitution - coding silent
ENST00000415411p.C74Cc.222C>TSubstitution - coding silent
ENST00000360660p.M617Tc.1850T>CSubstitution - Missense
PLECENSG00000178209ENST00000354958p.A1256Tc.3766G>ASubstitution - Missense
THBS2ENSG00000186340ENST00000366787p.G473fs*277c.1418delGDeletion - Frameshift
DNAH1ENSG00000114841ENST00000420323p.V2587Mc.7759G>ASubstitution - Missense
ALAS1ENSG00000023330ENST00000394965p.P79Pc.237T>CSubstitution - coding silent
P2RX1ENSG00000108405ENST00000225538p.L353Pc.1058T>CSubstitution - Missense
POLR2CENSG00000102978ENST00000219252p.I121Vc.361A>GSubstitution - Missense
KRTAP10-6ENSG00000188155ENST00000400368p.C312fs*>54c.934_935delTGDeletion - Frameshift
SMARCA4ENSG00000127616ENST00000358026p.V420Ac.1259T>CSubstitution - Missense
ENTHD2ENSG00000167302ENST00000300714p.T453Tc.1359G>ASubstitution - coding silent
ENST00000411702p.G2593Dc.7778G>ASubstitution - Missense
TNPO2ENSG00000105576ENST00000425528p.C443Rc.1327T>CSubstitution - Missense
LPIN2ENSG00000101577ENST00000261596p.T14Tc.42T>GSubstitution - coding silent
METTL4ENSG00000101574ENST00000574538p.K206Qc.616A>CSubstitution - Missense
DACH2ENSG00000126733ENST00000373131p.A187Ac.561A>GSubstitution - coding silent
NFATC1ENSG00000131196ENST00000329101p.V787Ic.2359G>ASubstitution - Missense
MRPL4ENSG00000105364ENST00000307422p.Y209Cc.626A>GSubstitution - Missense
MAPK13ENSG00000156711ENST00000211287p.Q61Qc.183G>ASubstitution - coding silent
ITPR1ENSG00000150995ENST00000456211p.?c.280-4A>GUnknown
SLC26A8ENSG00000112053ENST00000355574p.G213Gc.639C>TSubstitution - coding silent
JAK3ENSG00000105639ENST00000458235p.P37Ac.109C>GSubstitution - Missense
LPAR2ENSG00000064547ENST00000407877p.A158Vc.473C>TSubstitution - Missense
ZNF90ENSG00000213988ENST00000418063p.S326fs*1c.976_1060del85Deletion - Frameshift
ATXN2LENSG00000168488ENST00000336783p.R1070Wc.3208C>TSubstitution - Missense
RNF40ENSG00000103549ENST00000324685p.G323fs*13c.963delGDeletion - Frameshift
FZD9ENSG00000188763ENST00000344575p.G434Gc.1302C>TSubstitution - coding silent
ZNF92ENSG00000146757ENST00000328747p.P62Pc.186C>ASubstitution - coding silent
RAB43ENSG00000172780ENST00000315150p.R89Cc.265C>TSubstitution - Missense
TTLL12ENSG00000100304ENST00000216129p.H639Hc.1917C>TSubstitution - coding silent
KLHL34ENSG00000185915ENST00000379499p.C607Cc.1821C>TSubstitution - coding silent
CCDC108ENSG00000181378ENST00000341552p.P592fs*8c.1775delCDeletion - Frameshift
KIAA1324LENSG00000164659ENST00000297222p.C650Rc.1948T>CSubstitution - Missense
GREB1ENSG00000196208ENST00000381483p.K381Rc.1142A>GSubstitution - Missense
SLC22A2ENSG00000112499ENST00000366953p.R91Hc.272G>ASubstitution - Missense
NM_020340.2p.V1766Vc.5298G>CSubstitution - coding silent
DNAH6ENSG00000115423ENST00000237449p.M2353Lc.7057A>CSubstitution - Missense
ZNF225ENSG00000256294ENST00000262894p.W467Rc.1399T>CSubstitution - Missense
SCN3AENSG00000153253ENST00000283254p.?c.384-7A>GUnknown
NM_144685p.V171Ac.512T>CSubstitution - Missense
RINLENSG00000187994ENST00000340740p.A338fs*8c.1012delGDeletion - Frameshift
MTMR1ENSG00000063601ENST00000370390p.H203Hc.609T>CSubstitution - coding silent
OR2J3ENSG00000204701ENST00000377169p.Q232Qc.696G>ASubstitution - coding silent
ZNF184ENSG00000096654ENST00000377419p.P74Pc.222T>CSubstitution - coding silent
FIGNL1ENSG00000132436ENST00000395556p.R509Qc.1526G>ASubstitution - Missense
ZPBPENSG00000042813ENST00000046087p.F260fs*7c.780delTDeletion - Frameshift
FBXL7ENSG00000183580ENST00000504595p.M1Tc.2T>CSubstitution - Missense
ENST00000378129p.R415Hc.1244G>ASubstitution - Missense
KCNH2ENSG00000055118ENST00000262186p.L401Mc.1201C>ASubstitution - Missense
SPATA24ENSG00000170469ENST00000302091p.Q152Rc.455A>GSubstitution - Missense
MYO19ENSG00000141140ENST00000431794p.W263Cc.789G>TSubstitution - Missense
EIF2AK2ENSG00000055332ENST00000233057p.V259Ac.776T>CSubstitution - Missense
NDUFAF4ENSG00000123545ENST00000316149p.L62Mc.184C>ASubstitution - Missense
GHSRENSG00000121853ENST00000241256p.G245Dc.734G>ASubstitution - Missense
DOPEY1ENSG00000083097ENST00000349129p.V476Mc.1426G>ASubstitution - Missense
FNDC3BENSG00000075420ENST00000336824p.L15Pc.44T>CSubstitution - Missense
PCDHGA4ENSG00000262576ENST00000571252p.R580Cc.1738C>TSubstitution - Missense
FFAR2ENSG00000126262ENST00000246549p.L271fs*>60c.807delCDeletion - Frameshift
PCDHGB1ENSG00000254221ENST00000523390p.V604Mc.1810G>ASubstitution - Missense
ZBTB32ENSG00000011590ENST00000392197p.S222Sc.666T>CSubstitution - coding silent
COL5A1ENSG00000130635ENST00000371817p.G1540Gc.4620T>CSubstitution - coding silent
ZCCHC6ENSG00000083223ENST00000375963p.F1299Sc.3896T>CSubstitution - Missense
ADAMTS13ENSG00000160323ENST00000371929p.P866Tc.2596C>ASubstitution - Missense
SEMA4DENSG00000187764ENST00000450295p.H568Rc.1703A>GSubstitution - Missense
SNAPC4ENSG00000165684ENST00000298532p.L698Pc.2093T>CSubstitution - Missense
CELENSG00000170835ENST00000372080p.R188Wc.562C>TSubstitution - Missense
NRXN1ENSG00000179915ENST00000406316p.R121Hc.362G>ASubstitution - Missense
PLCD3ENSG00000161714ENST00000322765p.Y222Hc.664T>CSubstitution - Missense
FGGENSG00000171557ENST00000336098p.D63Ec.189C>GSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.T942Tc.2826T>CSubstitution - coding silent
RNF20ENSG00000155827ENST00000389120p.Q954Rc.2861A>GSubstitution - Missense
RAD23BENSG00000119318ENST00000358015p.V362Lc.1084G>TSubstitution - Missense
COL12A1ENSG00000111799ENST00000322507p.P3000Hc.8999C>ASubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.A1472Ac.4416A>GSubstitution - coding silent
OR2T33ENSG00000177212ENST00000318021p.N284Nc.852C>TSubstitution - coding silent
S100A4ENSG00000196154ENST00000368714p.R66Mc.197G>TSubstitution - Missense
ANKRD36ENSG00000135976ENST00000461153p.D830Dc.2490C>TSubstitution - coding silent
FBXL7ENSG00000183580ENST00000504595p.R306Cc.916C>TSubstitution - Missense
TFECENSG00000105967ENST00000265440p.K141fs*42c.422delADeletion - Frameshift
NM_014614.1p.T1691fs*>39c.5071delADeletion - Frameshift
SEMA4GENSG00000095539ENST00000210633p.R383Hc.1148G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.S884Sc.2652C>GSubstitution - coding silent
ENST00000433860p.?c.700+5T>CUnknown
CARD9ENSG00000187796ENST00000371734p.S193Sc.579T>CSubstitution - coding silent
ENST00000354576p.P61Rc.182C>GSubstitution - Missense
DMXL1ENSG00000172869ENST00000539542p.S1863Nc.5588G>ASubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.A2834Vc.8501C>TSubstitution - Missense
CHST10ENSG00000115526ENST00000542617p.S154Fc.461C>TSubstitution - Missense
NEK8ENSG00000160602ENST00000268766p.P172Pc.516T>CSubstitution - coding silent
TMEM234ENSG00000160055ENST00000545122p.A28_R34delASAGLQRc.83_103del21Deletion - In frame
KCNMA1ENSG00000156113ENST00000354353p.Y676fs*7c.2019_2020insTInsertion - Frameshift
ENST00000335056_v70p.S181fs*5c.538delTDeletion - Frameshift
ARHGAP35ENSG00000160007ENST00000404338p.V1455Mc.4363G>ASubstitution - Missense
PMLENSG00000140464ENST00000395132p.A300Vc.899C>TSubstitution - Missense
ITFG3ENSG00000167930ENST00000442458p.A9Tc.25G>ASubstitution - Missense
ENST00000425287p.D334Gc.1001A>GSubstitution - Missense
SLIT1ENSG00000187122ENST00000371041p.G320Sc.958G>ASubstitution - Missense
PAPPAENSG00000182752ENST00000328252p.A1047Tc.3139G>ASubstitution - Missense
CNTRLENSG00000119397ENST00000373855p.A949Dc.2846C>ASubstitution - Missense
DHRS9ENSG00000073737ENST00000357546p.K195Rc.584A>GSubstitution - Missense
NR6A1ENSG00000148200ENST00000487099p.T317Mc.950C>TSubstitution - Missense
ABCB11ENSG00000073734ENST00000263817p.T1029Tc.3087A>GSubstitution - coding silent
EIF4G1ENSG00000114867ENST00000319274p.L720Lc.2160A>GSubstitution - coding silent
RALGPS1ENSG00000136828ENST00000259351p.I268Vc.802A>GSubstitution - Missense
TENM3ENSG00000218336ENST00000511685p.G2341Gc.7023C>TSubstitution - coding silent
TAPBPENSG00000231925ENST00000426633p.A176Ac.528T>CSubstitution - coding silent
AKAP8ENSG00000105127ENST00000269701p.P426Pc.1278C>TSubstitution - coding silent
PKN1ENSG00000123143ENST00000242783p.?c.2294-1G>TUnknown
LIPEENSG00000079435ENST00000244289p.R629Wc.1885C>TSubstitution - Missense
ZSWIM3ENSG00000132801ENST00000255152p.L314Lc.940T>CSubstitution - coding silent
TEX30ENSG00000151287ENST00000376021p.L86Pc.257T>CSubstitution - Missense
DDB1ENSG00000167986ENST00000301764p.D1090Dc.3270C>TSubstitution - coding silent
DCHS1ENSG00000166341ENST00000299441p.A2419fs*7c.7253_7254insCInsertion - Frameshift
TTC40ENSG00000171811ENST00000368582p.M1154Vc.3460A>GSubstitution - Missense
EFSENSG00000100842ENST00000216733p.G209Gc.627C>TSubstitution - coding silent
ZFHX2ENSG00000136367ENST00000419474p.L819Pc.2456T>CSubstitution - Missense
EMC9ENSG00000100908ENST00000216799p.C40Cc.120C>TSubstitution - coding silent
BUB3ENSG00000154473ENST00000368865p.F64Lc.190T>CSubstitution - Missense
KRT75ENSG00000170454ENST00000252245p.?c.1383-2A>GUnknown
IDH3AENSG00000166411ENST00000299518p.S275Sc.825T>CSubstitution - coding silent
H2AFJENSG00000246705ENST00000389078p.R21fs*53c.61_62insCInsertion - Frameshift
KMT2DENSG00000167548ENST00000301067p.S2532fs*123c.7588_7589insCInsertion - Frameshift
ENST00000263762p.S422Sc.1266T>CSubstitution - coding silent
FCRL4ENSG00000163518ENST00000271532p.R341Gc.1021A>GSubstitution - Missense
MINPP1ENSG00000107789ENST00000371996p.H400Yc.1198C>TSubstitution - Missense
ENST00000446175_v65p.T256Ac.766A>GSubstitution - Missense
NCKAP1LENSG00000123338ENST00000293373p.S467Sc.1401C>ASubstitution - coding silent
MYOFENSG00000138119ENST00000359263p.F241fs*11c.723delTDeletion - Frameshift
EPSTI1ENSG00000133106ENST00000313640p.V375Ac.1124T>CSubstitution - Missense
PEAK1ENSG00000173517ENST00000312493p.G957Cc.2869G>TSubstitution - Missense
RASSF5ENSG00000136653ENST00000355294p.T251Mc.752C>TSubstitution - Missense
PYHIN1ENSG00000163564ENST00000392254p.P312Pc.936G>ASubstitution - coding silent
DOCK9ENSG00000088387ENST00000376460p.R1893Cc.5677C>TSubstitution - Missense
GPRIN2ENSG00000204175ENST00000374317p.A61Sc.181G>TSubstitution - Missense
ZNF691ENSG00000164011ENST00000372506p.E277Kc.829G>ASubstitution - Missense
FLT4ENSG00000037280ENST00000393347p.Q423fs*70c.1267delCDeletion - Frameshift
LEMD1ENSG00000186007ENST00000367154p.K37fs*2c.110delADeletion - Frameshift
ZNF451ENSG00000112200ENST00000357489p.P878Lc.2633C>TSubstitution - Missense
WBP1ENSG00000239779ENST00000233615p.H185fs*10c.552delTDeletion - Frameshift
ENST00000380014p.A49Vc.146C>TSubstitution - Missense
TFENSG00000091513ENST00000402696p.R273*c.817C>TSubstitution - Nonsense
C16orf46ENSG00000166455ENST00000378611p.G122fs*82c.365delGDeletion - Frameshift
ANGPTL2ENSG00000136859ENST00000373425p.N449Nc.1347C>TSubstitution - coding silent
NWD1ENSG00000188039ENST00000524140p.R1420Hc.4259G>ASubstitution - Missense
ZNF740ENSG00000139651ENST00000416904p.C131Cc.393C>TSubstitution - coding silent
ENST00000298047_v61p.T654Tc.1962A>CSubstitution - coding silent
ENST00000280576p.R1079Sc.3235C>ASubstitution - Missense
CHD4ENSG00000111642ENST00000357008p.S515Sc.1545T>CSubstitution - coding silent
POLR3GLENSG00000121851ENST00000369314p.S53Sc.159A>GSubstitution - coding silent
CFHENSG00000000971ENST00000367429p.T291Sc.871A>TSubstitution - Missense
TPRENSG00000047410ENST00000367478p.T1818Tc.5454A>GSubstitution - coding silent
ZFYVE26ENSG00000072121ENST00000347230p.M2404Vc.7210A>GSubstitution - Missense
KIF14ENSG00000118193ENST00000367350p.?c.3242-9T>CUnknown
FAM171A1ENSG00000148468ENST00000378116p.P604Lc.1811C>TSubstitution - Missense
ACSM3ENSG00000005187ENST00000289416p.L19Pc.56T>CSubstitution - Missense
MMP27ENSG00000137675ENST00000260229p.I153Vc.457A>GSubstitution - Missense
CUL5ENSG00000166266ENST00000393094p.N565fs*18c.1687delADeletion - Frameshift
KIAA1549LENSG00000110427ENST00000265654p.H876Hc.2628C>TSubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.L1962Lc.5886A>GSubstitution - coding silent
ATF7IP2ENSG00000166669ENST00000396560p.R296Cc.886C>TSubstitution - Missense
GNPTGENSG00000090581ENST00000204679p.R134Rc.402G>ASubstitution - coding silent
CITENSG00000122966ENST00000261833p.E1952Dc.5856G>TSubstitution - Missense
PABPC4ENSG00000090621ENST00000372858p.R534Wc.1600C>TSubstitution - Missense
KCNQ4ENSG00000117013ENST00000347132p.T489Ac.1465A>GSubstitution - Missense
EHD1ENSG00000110047ENST00000359393p.A191Tc.571G>ASubstitution - Missense
NDUFS2ENSG00000158864ENST00000367993p.R254Wc.760C>TSubstitution - Missense
ENST00000265969_v68p.R263Hc.788G>ASubstitution - Missense
PUM1ENSG00000134644ENST00000257075p.Q510Rc.1529A>GSubstitution - Missense
TXNRD1ENSG00000198431ENST00000503506p.M232Rc.695T>GSubstitution - Missense
WASF3ENSG00000132970ENST00000361042p.K453fs*>47c.1354delADeletion - Frameshift
TACC2ENSG00000138162ENST00000453444p.?c.7737-9T>CUnknown
TACC2ENSG00000138162ENST00000453444p.P179Lc.536C>TSubstitution - Missense
M6PRENSG00000003056ENST00000000412p.M119Vc.355A>GSubstitution - Missense
TMEM67ENSG00000164953ENST00000453321p.E679Vc.2036A>TSubstitution - Missense
TSPAN33ENSG00000158457ENST00000289407p.H277Yc.829C>TSubstitution - Missense
DOCK8ENSG00000107099ENST00000432829p.V721Mc.2161G>ASubstitution - Missense
SYCP2ENSG00000196074ENST00000357552p.?c.3555+7A>GUnknown
ZNFX1ENSG00000124201ENST00000371754p.C773Cc.2319C>TSubstitution - coding silent
ZNFX1ENSG00000124201ENST00000455070p.C577Cc.1731C>TSubstitution - coding silent
MIER2ENSG00000105556ENST00000264819p.E390Ec.1170G>ASubstitution - coding silent
ENST00000450721p.V178fs*7c.520_521delGTDeletion - Frameshift
KIAA1210ENSG00000250423ENST00000402510p.A894Vc.2681C>TSubstitution - Missense
ATP1B4ENSG00000101892ENST00000218008p.?c.328+2T>CUnknown
TTNENSG00000155657ENST00000342175p.?c.295+9C>TUnknown
FN1ENSG00000115414ENST00000354785p.?c.845-9T>CUnknown
SDR42E1ENSG00000184860ENST00000328945p.P386Sc.1156C>TSubstitution - Missense
DHDDSENSG00000117682ENST00000360009p.N250Ic.749A>TSubstitution - Missense
MTF2ENSG00000143033ENST00000370298p.T445Tc.1335T>CSubstitution - coding silent
SLC2A7ENSG00000197241ENST00000400906p.C385Cc.1155T>CSubstitution - coding silent
KLHL17ENSG00000187961ENST00000338591p.?c.1518+6T>CUnknown
FYBENSG00000082074ENST00000351578p.P509Sc.1525C>TSubstitution - Missense
XM_031689.7p.A2414Tc.7240G>ASubstitution - Missense
WDR70ENSG00000082068ENST00000265107p.K651fs*>4c.1948delADeletion - Frameshift
NPAS3ENSG00000151322ENST00000357798p.S668Gc.2002A>GSubstitution - Missense
NPAS3ENSG00000151322ENST00000346562p.S649Gc.1945A>GSubstitution - Missense
ILF2ENSG00000143621ENST00000361891p.E333Ec.999G>ASubstitution - coding silent
TCF12ENSG00000140262ENST00000452095p.R270Hc.809G>ASubstitution - Missense
LEMD1ENSG00000186007ENST00000367153p.?c.205+3A>GUnknown
TBC1D9BENSG00000197226ENST00000355235p.K370Ec.1108A>GSubstitution - Missense
RLTPRENSG00000159753ENST00000334583p.A553Vc.1658C>TSubstitution - Missense
FAM65AENSG00000039523ENST00000042381p.Y157Hc.469T>CSubstitution - Missense
PJA2ENSG00000198961ENST00000361189p.S134Sc.402C>TSubstitution - coding silent
UBP1ENSG00000153560ENST00000283629p.G14Vc.41G>TSubstitution - Missense
ACAP1ENSG00000072818ENST00000158762p.G62Sc.184G>ASubstitution - Missense
EIF5AENSG00000132507ENST00000336458p.T136Ac.406A>GSubstitution - Missense
ENST00000405167p.T2063Ac.6187A>GSubstitution - Missense
BANPENSG00000172530ENST00000393207p.I384Tc.1151T>CSubstitution - Missense
C16orf95ENSG00000260456ENST00000253461p.Y58Hc.172T>CSubstitution - Missense
MVDENSG00000167508ENST00000301012p.S127Pc.379T>CSubstitution - Missense
TSGA10ENSG00000135951ENST00000355053p.A275Vc.824C>TSubstitution - Missense
TBX1ENSG00000184058ENST00000329705p.T350Tc.1050G>ASubstitution - coding silent
HOXD11ENSG00000128713ENST00000249504p.G86fs*206c.252delGDeletion - Frameshift
ALPK2ENSG00000198796ENST00000361673p.G1963Gc.5889G>ASubstitution - coding silent
LIPGENSG00000101670ENST00000261292p.I307fs*11c.914_915insAInsertion - Frameshift
ZBTB10ENSG00000205189ENST00000455036p.N509Yc.1525A>TSubstitution - Missense
TCF4ENSG00000196628ENST00000356073p.H398Rc.1193A>GSubstitution - Missense
MLLT4ENSG00000130396ENST00000366806p.V1373Ac.4118T>CSubstitution - Missense
DOK7ENSG00000175920ENST00000340083p.D143Gc.428A>GSubstitution - Missense
PF4ENSG00000163737ENST00000296029p.G79Gc.237A>GSubstitution - coding silent
TOX3ENSG00000103460ENST00000407228p.T341Tc.1023C>ASubstitution - coding silent
PWP2ENSG00000241945ENST00000291576p.V734Mc.2200G>ASubstitution - Missense
ANKRD36CENSG00000174501ENST00000420871p.K162fs*17c.485delADeletion - Frameshift
STAT3ENSG00000168610ENST00000264657p.T494fs*55c.1479_1480insTInsertion - Frameshift
NOP14ENSG00000087269ENST00000398071p.F801fs*3c.2403delTDeletion - Frameshift
OTUD4ENSG00000164164ENST00000447906p.P998Pc.2994T>CSubstitution - coding silent
RPL3ENSG00000100316ENST00000216146p.R169Hc.506G>ASubstitution - Missense
GCATENSG00000100116ENST00000248924p.Q321Rc.962A>GSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.D1818Nc.5452G>ASubstitution - Missense
ZNF197ENSG00000186448ENST00000344387p.R558*c.1672C>TSubstitution - Nonsense
ENSG00000073169ENST00000380903p.T457fs*102c.1362_1363insACAAInsertion - Frameshift
ENST00000359737p.M916Tc.2747T>CSubstitution - Missense
ACRCENSG00000147174ENST00000373695p.?c.1399+3A>GUnknown
HDXENSG00000165259ENST00000297977p.V209Vc.627A>GSubstitution - coding silent
DPP7ENSG00000176978ENST00000371579p.A184Tc.550G>ASubstitution - Missense
CD96ENSG00000153283ENST00000283285p.K456fs*68c.1363delADeletion - Frameshift
LRP1BENSG00000168702ENST00000389484p.C3382Rc.10144T>CSubstitution - Missense
KIAA1407ENSG00000163617ENST00000295878p.K43Nc.129G>TSubstitution - Missense
FOXA3ENSG00000170608ENST00000302177p.A316Tc.946G>ASubstitution - Missense
MMP25ENSG00000008516ENST00000336577p.F196Ic.586T>ASubstitution - Missense
ENST00000317082p.V1455Mc.4363G>ASubstitution - Missense
FUT7ENSG00000180549ENST00000314412p.L197Mc.589C>ASubstitution - Missense
AGFG2ENSG00000106351ENST00000300176p.I456Fc.1366A>TSubstitution - Missense
NM_001371.1p.L1040Ic.3118C>ASubstitution - Missense
LPIN1ENSG00000134324ENST00000256720p.D602Dc.1806T>CSubstitution - coding silent
LPIN1ENSG00000134324ENST00000404113p.D103Dc.309T>CSubstitution - coding silent
NM_001001671.1p.E673fs*12c.2016delADeletion - Frameshift
SASH1ENSG00000111961ENST00000367467p.Q926Rc.2777A>GSubstitution - Missense
GPNMBENSG00000136235ENST00000381990p.D472Gc.1415A>GSubstitution - Missense
POU5F1BENSG00000212993ENST00000465342p.Q94Hc.282G>CSubstitution - Missense
SLC27A4ENSG00000167114ENST00000300456p.R347Wc.1039C>TSubstitution - Missense
FAF2ENSG00000113194ENST00000261942p.R315Qc.944G>ASubstitution - Missense
GOLGA2ENSG00000167110ENST00000421699p.?c.85-4A>GUnknown
RNF180ENSG00000164197ENST00000389100p.E422Ec.1266A>GSubstitution - coding silent
NM_018695.1p.V748Ac.2243T>CSubstitution - Missense
ANKRD55ENSG00000164512ENST00000341048p.*615Qc.1843T>CNonstop extension
KIFC1ENSG00000237649ENST00000428849p.S88Fc.263C>TSubstitution - Missense
MCM3ENSG00000112118ENST00000229854p.A304Pc.910G>CSubstitution - Missense
MEGF8ENSG00000105429ENST00000334370p.P1020Sc.3058C>TSubstitution - Missense
CICENSG00000079432ENST00000160740p.F1342Vc.4024T>GSubstitution - Missense
ENST00000291449p.H466Hc.1398T>CSubstitution - coding silent
NEBENSG00000183091ENST00000427231p.Y85fs*66c.252delCDeletion - Frameshift
R3HDMLENSG00000101074ENST00000217043p.I105Vc.313A>GSubstitution - Missense
DPP6ENSG00000130226ENST00000404039p.I120fs*4c.352delADeletion - Frameshift
C22orf15ENSG00000169314ENST00000402217p.G8Gc.24G>TSubstitution - coding silent
SGSM1ENSG00000167037ENST00000400358p.R66Cc.196C>TSubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.Q5387Pc.16160A>CSubstitution - Missense
AEBP1ENSG00000106624ENST00000223357p.T1052Tc.3156G>ASubstitution - coding silent
MTMR1ENSG00000063601ENST00000451863p.H203Hc.609T>CSubstitution - coding silent
HIST1H4KENSG00000197914ENST00000357549p.G7Cc.19G>TSubstitution - Missense
SLC6A8ENSG00000130821ENST00000253122p.G67Dc.200G>ASubstitution - Missense
GM2AENSG00000196743ENST00000357164p.L129Pc.386T>CSubstitution - Missense
BGNENSG00000182492ENST00000331595p.P349Lc.1046C>TSubstitution - Missense
ZNF275ENSG00000063587ENST00000440091p.D278Nc.832G>ASubstitution - Missense
SGCDENSG00000170624ENST00000337851p.P253Ac.757C>GSubstitution - Missense
SNAP91ENSG00000065609ENST00000369694p.S2Lc.5C>TSubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.P2666Pc.7998A>GSubstitution - coding silent
SLC26A2ENSG00000155850ENST00000286298p.L667Pc.2000T>CSubstitution - Missense
GOLM1ENSG00000135052ENST00000388712p.A62Ac.186C>TSubstitution - coding silent
PPP2R2BENSG00000156475ENST00000394409p.T280Mc.839C>TSubstitution - Missense
DHX33ENSG00000005100ENST00000225296p.Q109Rc.326A>GSubstitution - Missense
MSI2ENSG00000153944ENST00000284073p.Y327Yc.981C>TSubstitution - coding silent
CDC42BPAENSG00000143776ENST00000366767p.R1532Rc.4596C>TSubstitution - coding silent
UGGT2ENSG00000102595ENST00000376747p.L1145Lc.3433T>CSubstitution - coding silent
OLFM4ENSG00000102837ENST00000219022p.?c.357+2T>CUnknown
CUX2ENSG00000111249ENST00000261726p.P595Ac.1783C>GSubstitution - Missense
KLHL1ENSG00000150361ENST00000377844p.G35fs*31c.104delGDeletion - Frameshift
ZFYVE16ENSG00000039319ENST00000338008p.K148fs*14c.439delADeletion - Frameshift
ATP2B4ENSG00000058668ENST00000367218p.K88fs*40c.254_255insCInsertion - Frameshift
SLC19A2ENSG00000117479ENST00000236137p.Y131fs*45c.391delTDeletion - Frameshift
MAP7D1ENSG00000116871ENST00000373151p.C481fs*94c.1436delCDeletion - Frameshift
GPR124ENSG00000020181ENST00000412232p.A525fs*12c.1567delGDeletion - Frameshift
ARMC6ENSG00000105676ENST00000269932p.C102Cc.306C>TSubstitution - coding silent
SLC23A1ENSG00000170482ENST00000353963p.G508Gc.1524C>TSubstitution - coding silent
SLC25A46ENSG00000164209ENST00000355943p.R124Cc.370C>TSubstitution - Missense
SCAF1ENSG00000126461ENST00000360565p.T1181fs*28c.3533delCDeletion - Frameshift
IFRD2ENSG00000214706ENST00000336089p.D228fs*16c.682delGDeletion - Frameshift
ZBED4ENSG00000100426ENST00000216268p.F125fs*16c.369delTDeletion - Frameshift
MBOAT1ENSG00000172197ENST00000324607p.T257Tc.771G>ASubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.T858Tc.2574G>ASubstitution - coding silent
WDR55ENSG00000120314ENST00000358337p.K341fs*8c.1015delADeletion - Frameshift
WDR91ENSG00000105875ENST00000354475p.R208Qc.623G>ASubstitution - Missense
ABCA1ENSG00000165029ENST00000374736p.R126Hc.377G>ASubstitution - Missense
RPL22ENSG00000116251ENST00000234875p.K15fs*5c.44delADeletion - Frameshift
PLECENSG00000178209ENST00000354589p.R4128Wc.12382C>TSubstitution - Missense
ZCCHC7ENSG00000147905ENST00000322831p.R149*c.445C>TSubstitution - Nonsense
SYTL3ENSG00000164674ENST00000297239p.H321Rc.962A>GSubstitution - Missense
RAI14ENSG00000039560ENST00000265109p.T780Tc.2340T>CSubstitution - coding silent
TOM1ENSG00000100284ENST00000436462p.P425Lc.1274C>TSubstitution - Missense
LPIN1ENSG00000134324ENST00000449576p.D687Dc.2061T>CSubstitution - coding silent
KIAA1107ENSG00000069712ENST00000409154p.S420fs*9c.1252delADeletion - Frameshift
MYOFENSG00000138119ENST00000371501p.F241fs*11c.723delTDeletion - Frameshift
RYR2ENSG00000198626ENST00000360064p.G4327Cc.12979G>TSubstitution - Missense
SCN9AENSG00000169432ENST00000375387p.T96fs*20c.286delADeletion - Frameshift
ENST00000417177p.A1862Vc.5585C>TSubstitution - Missense
FAM208BENSG00000108021ENST00000328090p.G947Ec.2840G>ASubstitution - Missense
OLFML3ENSG00000116774ENST00000369551p.L256Pc.767T>CSubstitution - Missense
PLA2G12BENSG00000138308ENST00000373032p.R40Wc.118C>TSubstitution - Missense
NM_013266.1p.I447Vc.1339A>GSubstitution - Missense
NM_013266.1p.N461Sc.1382A>GSubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.V2881Ac.8642T>CSubstitution - Missense
UHRF1BP1LENSG00000111647ENST00000279907p.F794fs*15c.2381delTDeletion - Frameshift
VDRENSG00000111424ENST00000395324p.A6Vc.17C>TSubstitution - Missense
SWAP70ENSG00000133789ENST00000318950p.L453Lc.1357T>CSubstitution - coding silent
ADSSENSG00000035687ENST00000366535p.T370Ac.1108A>GSubstitution - Missense
NM_005056.1p.P1041Pc.3123G>ASubstitution - coding silent
MTA2ENSG00000149480ENST00000278823p.Y129fs*33c.385delTDeletion - Frameshift
RIN1ENSG00000174791ENST00000311320p.P694Pc.2082C>TSubstitution - coding silent
ANKS1BENSG00000185046ENST00000547776p.E782Dc.2346A>CSubstitution - Missense
TTC40ENSG00000171811ENST00000368586p.M1154Vc.3460A>GSubstitution - Missense
TTC40ENSG00000171811ENST00000368586p.L2669Lc.8007G>ASubstitution - coding silent
FAM111AENSG00000166801ENST00000528737p.T367Mc.1100C>TSubstitution - Missense
MOKENSG00000080823ENST00000361847p.F146Vc.436T>GSubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.D1535Dc.4605T>CSubstitution - coding silent
MKI67ENSG00000148773ENST00000368654p.D1252Nc.3754G>ASubstitution - Missense
RACGAP1ENSG00000161800ENST00000427314p.S118Sc.354C>TSubstitution - coding silent
LRP1ENSG00000123384ENST00000243077p.H4411Rc.13232A>GSubstitution - Missense
TAPBPLENSG00000139192ENST00000266556p.C115Rc.343T>CSubstitution - Missense
TRIM68ENSG00000167333ENST00000300747p.I396Mc.1188A>GSubstitution - Missense
PANK1ENSG00000152782ENST00000342512p.?c.28+9A>GUnknown
PMLENSG00000140464ENST00000268059p.E551fs*8c.1648delGDeletion - Frameshift
CDC42BPAENSG00000143776ENST00000334218p.K913Kc.2739A>GSubstitution - coding silent
ZNF99ENSG00000213973ENST00000397104p.K837Rc.2510A>GSubstitution - Missense
SNRNP70ENSG00000104852ENST00000221448p.H133Hc.399C>TSubstitution - coding silent
ZNF91ENSG00000167232ENST00000300619p.P797Pc.2391C>ASubstitution - coding silent
TSKSENSG00000126467ENST00000246801p.H56Hc.168C>TSubstitution - coding silent
ESX1ENSG00000123576ENST00000372588p.Q110_Q115delQEEPPQc.328_345del18Deletion - In frame
MID1ENSG00000101871ENST00000453318p.D406Gc.1217A>GSubstitution - Missense
ENST00000300671p.G4086Gc.12258C>TSubstitution - coding silent
SEPT9ENSG00000184640ENST00000427180p.K179Tc.536A>CSubstitution - Missense
ARMCX5ENSG00000125962ENST00000246174p.E368Ec.1104A>GSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.S964Sc.2892C>TSubstitution - coding silent
FN1ENSG00000115414ENST00000336916p.?c.845-9T>CUnknown
FOXD3ENSG00000187140ENST00000371116p.P209Tc.625C>ASubstitution - Missense
DYNC1H1ENSG00000197102ENST00000360184p.Q1058Rc.3173A>GSubstitution - Missense
SKOR1ENSG00000188779ENST00000380035p.S165Sc.495G>ASubstitution - coding silent
FYBENSG00000082074ENST00000505428p.P509Sc.1525C>TSubstitution - Missense
FYBENSG00000082074ENST00000512982p.P509Sc.1525C>TSubstitution - Missense
PLEKHH1ENSG00000054690ENST00000329153p.T483Ac.1447A>GSubstitution - Missense
LRRK1ENSG00000154237ENST00000388948p.S786Fc.2357C>TSubstitution - Missense
FAM189BENSG00000160767ENST00000361361p.C257Yc.770G>ASubstitution - Missense
FLAD1ENSG00000160688ENST00000292180p.T386Sc.1157C>GSubstitution - Missense
RABIFENSG00000183155ENST00000367262p.F77fs*31c.231delTDeletion - Frameshift
TRPM7ENSG00000092439ENST00000313478p.T353fs*16c.1057delADeletion - Frameshift
TCF12ENSG00000140262ENST00000343827p.R104Hc.311G>ASubstitution - Missense
TDRD5ENSG00000162782ENST00000367614p.T850Ac.2548A>GSubstitution - Missense
STRIP1ENSG00000143093ENST00000369794p.Q166Qc.498G>ASubstitution - coding silent
FNDC7ENSG00000143107ENST00000370017p.I155Mc.465A>GSubstitution - Missense
YAP1ENSG00000137693ENST00000282441p.S227Lc.680C>TSubstitution - Missense
UBE4AENSG00000110344ENST00000431736p.?c.2433+3_2433+11delaaaaaaaaaUnknown
EIF5AENSG00000132507ENST00000336452p.T166Ac.496A>GSubstitution - Missense
COL25A1ENSG00000188517ENST00000399132p.N293Nc.879C>TSubstitution - coding silent
C2orf16ENSG00000221843ENST00000408964p.R1485Rc.4453A>CSubstitution - coding silent
ENST00000405167p.T2443Tc.7329A>GSubstitution - coding silent
DNAJA3ENSG00000103423ENST00000262375p.R395Qc.1184G>ASubstitution - Missense
BANPENSG00000172530ENST00000355022p.I353Tc.1058T>CSubstitution - Missense
SMC6ENSG00000163029ENST00000448223p.D380Dc.1140T>CSubstitution - coding silent
GNRH2ENSG00000125787ENST00000380347p.?c.291+5G>AUnknown
PLECENSG00000178209ENST00000322810p.R4265Wc.12793C>TSubstitution - Missense
ALPK2ENSG00000198796ENST00000361673p.V661Ic.1981G>ASubstitution - Missense
LY6EENSG00000160932ENST00000292494p.N99Dc.295A>GSubstitution - Missense
SLC7A2ENSG00000003989ENST00000470360p.A209fs*24c.624_625insTInsertion - Frameshift
GRM2ENSG00000164082ENST00000395052p.F190delFc.564_566delCTTDeletion - In frame
MED1ENSG00000125686ENST00000300651p.N146fs*24c.437delADeletion - Frameshift
RWDD2BENSG00000156253ENST00000493196p.P112Lc.335C>TSubstitution - Missense
PITPNM3ENSG00000091622ENST00000262483p.?c.901-10G>AUnknown
C8orf37ENSG00000156172ENST00000286688p.S184Nc.551G>ASubstitution - Missense
HMBOX1ENSG00000147421ENST00000444075p.D370Gc.1109A>GSubstitution - Missense
ENST00000354485p.D941Gc.2822A>GSubstitution - Missense
TJP2ENSG00000119139ENST00000265384p.T849Tc.2547G>ASubstitution - coding silent
TSPYL4ENSG00000187189ENST00000420283p.G51Gc.153G>ASubstitution - coding silent
SPATA9ENSG00000145757ENST00000274432p.I136Nc.407T>ASubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.G2353Dc.7058G>ASubstitution - Missense
ITPR1ENSG00000150995ENST00000302640p.?c.280-4A>GUnknown
NCKIPSDENSG00000213672ENST00000341520p.S455Tc.1363T>ASubstitution - Missense
XM_371474.2p.T1490Ac.4468A>GSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.H2252Rc.6755A>GSubstitution - Missense
NDOR1ENSG00000188566ENST00000344894p.R589Wc.1765C>TSubstitution - Missense
CRTC1ENSG00000105662ENST00000338797p.S498Gc.1492A>GSubstitution - Missense
ZNF28ENSG00000198538ENST00000339844p.K33Ec.97A>GSubstitution - Missense
DNAJC13ENSG00000138246ENST00000260818p.K1665*c.4993A>TSubstitution - Nonsense
RELBENSG00000104856ENST00000221452p.T363Mc.1088C>TSubstitution - Missense
NCKAP5ENSG00000176771ENST00000409261p.G1035Wc.3103G>TSubstitution - Missense
ENST00000356328p.S115Sc.345A>GSubstitution - coding silent
RTN2ENSG00000125744ENST00000245923p.Y66Cc.197A>GSubstitution - Missense
MUC3AENSG00000169894ENST00000319509p.T724Nc.2171C>ASubstitution - Missense
KLC3ENSG00000104892ENST00000391946p.?c.1144-10T>CUnknown
KDM8ENSG00000155666ENST00000286096p.G298Gc.894C>TSubstitution - coding silent
TRERF1ENSG00000124496ENST00000372922p.P667Sc.1999C>TSubstitution - Missense
ENST00000379421p.R21Gc.61A>GSubstitution - Missense
SPRED2ENSG00000198369ENST00000356388p.M343Vc.1027A>GSubstitution - Missense
MYO7BENSG00000169994ENST00000428314p.?c.5172-1G>TUnknown
CLIC2ENSG00000155962ENST00000369449p.K189fs*2c.564delCDeletion - Frameshift
SU_SK681p.R845Cc.2533C>TSubstitution - Missense
F8ENSG00000185010ENST00000360256p.E1057Kc.3169G>ASubstitution - Missense
CLEC10AENSG00000132514ENST00000254868p.?c.521-5A>GUnknown
DMRTC2ENSG00000142025ENST00000269945p.T51Tc.153C>TSubstitution - coding silent
SCNN1BENSG00000168447ENST00000307331p.Y150Hc.448T>CSubstitution - Missense
PREX1ENSG00000124126ENST00000396220p.T1018Tc.3054C>TSubstitution - coding silent
SRP72ENSG00000174780ENST00000342756p.?c.1086+5A>GUnknown
UBE3CENSG00000009335ENST00000348165p.G83Rc.247G>ASubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.R1232Hc.3695G>ASubstitution - Missense
SARS2ENSG00000104835ENST00000221431p.T92Ac.274A>GSubstitution - Missense
MYO10ENSG00000145555ENST00000274203p.G1749Gc.5247C>TSubstitution - coding silent
DDX19AENSG00000168872ENST00000302243p.E242Gc.725A>GSubstitution - Missense
PHKG1ENSG00000164776ENST00000297373p.S244Sc.732C>TSubstitution - coding silent
ENST00000288841p.R841fs*3c.2521delCDeletion - Frameshift
PABPC1ENSG00000070756ENST00000318607p.D45Nc.133G>ASubstitution - Missense
TNRC18ENSG00000182095ENST00000430969p.P264Hc.791C>ASubstitution - Missense
PCDHA11ENSG00000249158ENST00000398640p.K676Kc.2028G>ASubstitution - coding silent
GGNBP2ENSG00000005955ENST00000304718p.R374Cc.1120C>TSubstitution - Missense
OR3A1ENSG00000180090ENST00000323404p.H59Qc.177C>ASubstitution - Missense
SNAP91ENSG00000065609ENST00000439399p.S2Lc.5C>TSubstitution - Missense
OR1E1ENSG00000180016ENST00000322608p.V247Vc.741G>TSubstitution - coding silent
SIENSG00000090402ENST00000264382p.W1335*c.4005G>ASubstitution - Nonsense
SKILENSG00000136603ENST00000259119p.H37Pc.110A>CSubstitution - Missense
ZNF585AENSG00000196967ENST00000392157p.S610Sc.1830T>CSubstitution - coding silent
ZNF850ENSG00000267041ENST00000591344p.K587Kc.1761A>GSubstitution - coding silent
NM_014866.1p.Q661Qc.1983G>ASubstitution - coding silent
VAV2ENSG00000160293ENST00000406606p.T781Ac.2341A>GSubstitution - Missense
BRCA1ENSG00000012048ENST00000471181p.G401Ec.1202G>ASubstitution - Missense
COILENSG00000121058ENST00000240316p.S305Nc.914G>ASubstitution - Missense
DTWD2ENSG00000169570ENST00000510708p.L231Lc.693T>CSubstitution - coding silent
CLPTM1LENSG00000049656ENST00000320895p.F279fs*2c.837delTDeletion - Frameshift
PGBD1ENSG00000137338ENST00000259883p.M669fs*1c.1999delADeletion - Frameshift
DAB2IPENSG00000136848ENST00000309989p.H901fs*5c.2694delCDeletion - Frameshift
KIAA1755ENSG00000149633ENST00000279024p.R1165fs*>36c.3492delCDeletion - Frameshift
LRP2ENSG00000081479ENST00000263816p.P4380fs*46c.13139delCDeletion - Frameshift
MCRS1ENSG00000187778ENST00000357123p.F70Fc.210C>TSubstitution - coding silent
PRRC2BENSG00000130723ENST00000357304p.V190Ic.568G>ASubstitution - Missense
PIK3CAENSG00000121879ENST00000263967p.C420Rc.1258T>CSubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.E2732Ac.8195A>CSubstitution - Missense
RPGRENSG00000156313ENST00000342811p.G370Gc.1110T>CSubstitution - coding silent
DNAH8ENSG00000124721ENST00000449981p.H1976Hc.5928T>CSubstitution - coding silent
GRK6ENSG00000198055ENST00000528793p.A292Ac.876C>TSubstitution - coding silent
CACNA1IENSG00000100346ENST00000336649p.R416Rc.1248G>ASubstitution - coding silent
DYSFENSG00000135636ENST00000410020p.D247Nc.739G>ASubstitution - Missense
C17orf66ENSG00000172653ENST00000589015p.K164Ec.490A>GSubstitution - Missense
MYO19ENSG00000141140ENST00000586007p.W263Cc.789G>TSubstitution - Missense
TSKSENSG00000126467ENST00000358830p.G375fs*>18c.1124delGDeletion - Frameshift
CYP26A1ENSG00000095596ENST00000224356p.E496fs*>3c.1486_1487insGInsertion - Frameshift
SLC35B3ENSG00000124786ENST00000339306p.V67delVc.198_200delGGTDeletion - In frame
SEZ6ENSG00000063015ENST00000360295p.P306fs*2c.915_916insGInsertion - Frameshift
SMG1ENSG00000157106ENST00000446231p.L365Lc.1095G>ASubstitution - coding silent
MYO5AENSG00000197535ENST00000358212p.R1262Hc.3785G>ASubstitution - Missense
DENND1AENSG00000119522ENST00000373618p.?c.1203+1G>AUnknown
FER1L6ENSG00000214814ENST00000399018p.V303Mc.907G>ASubstitution - Missense
IL1RAPENSG00000196083ENST00000443369p.H52Rc.155A>GSubstitution - Missense
LRRC15ENSG00000172061ENST00000439944p.A548Vc.1643C>TSubstitution - Missense
FSTL5ENSG00000168843ENST00000306100p.A410Vc.1229C>TSubstitution - Missense
BRCA2ENSG00000139618ENST00000544455p.R2973Hc.8918G>ASubstitution - Missense
DCLK1ENSG00000133083ENST00000255448p.S696Sc.2088A>GSubstitution - coding silent
LRRC47ENSG00000130764ENST00000378251p.G305Sc.913G>ASubstitution - Missense
PDS5BENSG00000083642ENST00000315596p.P873Pc.2619A>GSubstitution - coding silent
TRPC4ENSG00000133107ENST00000379681p.C181Cc.543C>TSubstitution - coding silent
HCFC2ENSG00000111727ENST00000229330p.T298Ac.892A>GSubstitution - Missense
FGF6ENSG00000111241ENST00000228837p.S76Sc.228T>CSubstitution - coding silent
ITPRIPENSG00000148841ENST00000358187p.R39Hc.116G>ASubstitution - Missense
TACC2ENSG00000138162ENST00000369005p.?c.7725-9T>CUnknown
XM_371214.3p.S502Gc.1504A>GSubstitution - Missense
TACC2ENSG00000138162ENST00000453444p.E1042fs*8c.3124_3125insGInsertion - Frameshift
TRIM8ENSG00000171206ENST00000302424p.A80Vc.239C>TSubstitution - Missense
ENST00000376032_v68p.L127Pc.380T>CSubstitution - Missense
NEU3ENSG00000162139ENST00000294064p.D52Nc.154G>ASubstitution - Missense
FAM111BENSG00000189057ENST00000343597p.Y132Hc.394T>CSubstitution - Missense
LTB4RENSG00000213903ENST00000396782p.A179Vc.536C>TSubstitution - Missense
ENST00000376625_v68p.Q77fs*27c.228_229insCInsertion - Frameshift
POLEENSG00000177084ENST00000320574p.?c.2469-2A>GUnknown
ANHXENSG00000227059ENST00000419717p.P265Pc.795G>ASubstitution - coding silent
OR6P1ENSG00000186440ENST00000334632p.L27Fc.79C>TSubstitution - Missense
HSPA8ENSG00000109971ENST00000532636p.P436Pc.1308T>CSubstitution - coding silent
KCNMA1ENSG00000156113ENST00000450795p.A166fs*10c.496_497insTInsertion - Frameshift
MYOFENSG00000138119ENST00000359263p.L1111Pc.3332T>CSubstitution - Missense
MIA3ENSG00000154305ENST00000344922p.F1193Lc.3579T>ASubstitution - Missense
ENSG00000150076ENST00000375025p.K277Nc.831A>CSubstitution - Missense
SH2B3ENSG00000111252ENST00000341259p.S10Sc.30G>ASubstitution - coding silent
AARSENSG00000090861ENST00000261772p.T24Mc.71C>TSubstitution - Missense
MKNK1ENSG00000079277ENST00000371946p.I79Tc.236T>CSubstitution - Missense
SPATA5L1ENSG00000171763ENST00000305560p.P507fs*9c.1516delCDeletion - Frameshift
PBXIP1ENSG00000163346ENST00000368463p.S711Rc.2133C>ASubstitution - Missense
DLG2ENSG00000150672ENST00000376104p.R642Hc.1925G>ASubstitution - Missense
MDM4ENSG00000198625ENST00000367179p.V152Ac.455T>CSubstitution - Missense
TYRENSG00000077498ENST00000263321p.Q14Qc.42G>ASubstitution - coding silent
FAT3ENSG00000165323ENST00000409404p.I644Ic.1932T>ASubstitution - coding silent
TCTN2ENSG00000168778ENST00000303372p.N372Nc.1116C>TSubstitution - coding silent
NXPE4ENSG00000137634ENST00000375478p.S268Rc.802A>CSubstitution - Missense
PTPRBENSG00000127329ENST00000261266p.R992Wc.2974C>TSubstitution - Missense
ENST00000574641_v68p.I40Tc.119T>CSubstitution - Missense
PDSS1ENSG00000148459ENST00000376215p.S314Lc.941C>TSubstitution - Missense
MYO3AENSG00000095777ENST00000265944p.Y207Hc.619T>CSubstitution - Missense
MMP3ENSG00000149968ENST00000299855p.K317Kc.951A>GSubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.L1962Lc.5886A>GSubstitution - coding silent
TTLL13ENSG00000213471ENST00000438251p.?c.549-3T>CUnknown
NM_002094.1p.V316Ec.947T>ASubstitution - Missense
ERCC6ENSG00000225830ENST00000355832p.L1225Pc.3674T>CSubstitution - Missense
TMED10ENSG00000170348ENST00000303575p.R176Hc.527G>ASubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.D74Dc.222T>CSubstitution - coding silent
TTF2ENSG00000116830ENST00000369466p.A1026Ac.3078A>CSubstitution - coding silent
PTPRFENSG00000142949ENST00000359947p.S1059Sc.3177G>ASubstitution - coding silent
ENST00000358576_v68p.T78Mc.233C>TSubstitution - Missense
XM_370630.2p.G217fs*17c.648_649insCCInsertion - Frameshift
NIT1ENSG00000158793ENST00000368009p.L99Pc.296T>CSubstitution - Missense
SPENENSG00000065526ENST00000375759p.Q2108Qc.6324G>ASubstitution - coding silent
PDS5BENSG00000083642ENST00000315596p.Y128Hc.382T>CSubstitution - Missense
GJA4ENSG00000187513ENST00000342280p.A301Ac.903G>ASubstitution - coding silent
TMEM67ENSG00000164953ENST00000453321p.A538Tc.1612G>ASubstitution - Missense
PSMC5ENSG00000087191ENST00000310144p.N321fs*9c.955delCDeletion - Frameshift
CACNA1DENSG00000157388ENST00000288139p.A1968Tc.5902G>ASubstitution - Missense
PHYHIPENSG00000168490ENST00000321613p.R277Hc.830G>ASubstitution - Missense
SIGLEC1ENSG00000088827ENST00000344754p.L868Ic.2602C>ASubstitution - Missense
ZACNENSG00000186919ENST00000334586p.G14Ac.41G>CSubstitution - Missense
UBE2OENSG00000175931ENST00000319380p.N1080Nc.3240C>TSubstitution - coding silent
QRICH2ENSG00000129646ENST00000262765p.D533Dc.1599T>CSubstitution - coding silent
MGAT5BENSG00000167889ENST00000428789p.?c.1455+6C>TUnknown
RHOXF1ENSG00000101883ENST00000217999p.P88Lc.263C>TSubstitution - Missense
ENST00000356127p.T6658Ac.19972A>GSubstitution - Missense
PARD3BENSG00000116117ENST00000358768p.R850Hc.2549G>ASubstitution - Missense
METTL21AENSG00000144401ENST00000458426p.?c.260-6T>CUnknown
MAP3K6ENSG00000142733ENST00000493901p.H1035Hc.3105T>CSubstitution - coding silent
SLC30A2ENSG00000158014ENST00000374276p.V300fs*1c.898delGDeletion - Frameshift
PGBD2ENSG00000185220ENST00000329291p.R587Gc.1759A>GSubstitution - Missense
SLC35D1ENSG00000116704ENST00000235345p.L219Rc.656T>GSubstitution - Missense
DDHD1ENSG00000100523ENST00000357758p.G112_S113insGGc.333_334insGGCGGCInsertion - In frame
SMAD6ENSG00000137834ENST00000288840p.R428Cc.1282C>TSubstitution - Missense
KLHL17ENSG00000187961ENST00000338591p.A340Gc.1019C>GSubstitution - Missense
C6ENSG00000039537ENST00000263413p.R108Hc.323G>ASubstitution - Missense
C14orf37ENSG00000139971ENST00000267485p.A708Tc.2122G>ASubstitution - Missense
SNAPC5ENSG00000174446ENST00000316634p.V54fs*2c.160_161delGTDeletion - Frameshift
TTC39AENSG00000085831ENST00000262675p.M42Tc.125T>CSubstitution - Missense
IGF2RENSG00000197081ENST00000356956p.D1317fs*27c.3950delADeletion - Frameshift
PLEKHA8ENSG00000106086ENST00000449726p.P351Ac.1051C>GSubstitution - Missense
ENST00000330166p.P415Rc.1244C>GSubstitution - Missense
NHSL1ENSG00000135540ENST00000342260p.S905Sc.2715G>ASubstitution - coding silent
CDH18ENSG00000145526ENST00000507958p.H123fs*10c.364_365insCInsertion - Frameshift
XM_497119.1p.I4149Vc.12445A>GSubstitution - Missense
ZSCAN18ENSG00000121413ENST00000240727p.P234Hc.701C>ASubstitution - Missense
NLRP8ENSG00000179709ENST00000291971p.P7Pc.21C>ASubstitution - coding silent
ZNF667ENSG00000198046ENST00000342634p.Q364Qc.1092A>GSubstitution - coding silent
HSD11B1LENSG00000167733ENST00000339423p.F14Fc.42C>TSubstitution - coding silent
PRICKLE3ENSG00000012211ENST00000376317p.L112Rc.335T>GSubstitution - Missense
COPS4ENSG00000138663ENST00000264389p.E219Kc.655G>ASubstitution - Missense
TM4SF19ENSG00000145107ENST00000273695p.A168Vc.503C>TSubstitution - Missense
MYT1ENSG00000196132ENST00000328439p.P1077Pc.3231G>ASubstitution - coding silent
ATP2B2ENSG00000157087ENST00000360273p.?c.2704-8G>AUnknown
DPPA4ENSG00000121570ENST00000335658p.K148fs*2c.444delADeletion - Frameshift
EIF5BENSG00000158417ENST00000289371p.E257Dc.771A>CSubstitution - Missense
GTF3C3ENSG00000119041ENST00000263956p.E111_T112insEc.329_330insGGAInsertion - In frame
ITGA6ENSG00000091409ENST00000264107p.I379Ic.1137T>CSubstitution - coding silent
DGCR6ENSG00000183628ENST00000331444p.P36Ac.106C>GSubstitution - Missense
NM_147171.1p.N2333fs*3c.6992delADeletion - Frameshift
CASD1ENSG00000127995ENST00000297273p.A543fs*33c.1626_1627insAInsertion - Frameshift
CLN8ENSG00000182372ENST00000331222p.N277Nc.831C>TSubstitution - coding silent
NRSN1ENSG00000152954ENST00000378491p.L150Pc.449T>CSubstitution - Missense
URB1ENSG00000142207ENST00000382751p.R195Rc.585G>ASubstitution - coding silent
FN3KRPENSG00000141560ENST00000269373p.A249Sc.745G>TSubstitution - Missense
TMED1ENSG00000099203ENST00000214869p.V119delVc.355_357delGTGDeletion - In frame
ZNF700ENSG00000196757ENST00000254321p.H324Yc.970C>TSubstitution - Missense
STAT5AENSG00000126561ENST00000345506p.R778Rc.2334C>TSubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.A467Ac.1401G>ASubstitution - coding silent
IRF1ENSG00000125347ENST00000245414p.Y109Cc.326A>GSubstitution - Missense
TMEM184CENSG00000164168ENST00000296582p.L235Lc.703C>TSubstitution - coding silent
FOXRED2ENSG00000100350ENST00000397223p.D509Dc.1527C>TSubstitution - coding silent
DSTENSG00000151914ENST00000370769p.D3590Gc.10769A>GSubstitution - Missense
SLC9B1P1ENSG00000183704ENST00000331172p.I62Lc.184A>CSubstitution - Missense
CDH19ENSG00000071991ENST00000262150p.P146Pc.438A>GSubstitution - coding silent
SV2CENSG00000122012ENST00000502798p.F237Cc.710T>GSubstitution - Missense
ATP8B3ENSG00000130270ENST00000539485p.A918Vc.2753C>TSubstitution - Missense
OGTENSG00000147162ENST00000373719p.I109Sc.326T>GSubstitution - Missense
SMARCA2ENSG00000080503ENST00000349721p.R979Hc.2936G>ASubstitution - Missense
SMARCA2ENSG00000080503ENST00000349721p.H81Hc.243T>CSubstitution - coding silent
ATP8B3ENSG00000130270ENST00000539485p.T140Tc.420G>ASubstitution - coding silent
ENST00000317082p.G1131Rc.3391G>ASubstitution - Missense
ATXN2LENSG00000168488ENST00000336783p.V857Ic.2569G>ASubstitution - Missense
KIF6ENSG00000164627ENST00000287152p.I229Ic.687T>CSubstitution - coding silent
CAND2ENSG00000144712ENST00000295989p.D736Nc.2206G>ASubstitution - Missense
CLASP1ENSG00000074054ENST00000263710p.G70Gc.210C>TSubstitution - coding silent
DMDENSG00000198947ENST00000378677p.Q3264Qc.9792A>GSubstitution - coding silent
FLNAENSG00000196924ENST00000369850p.C1353Cc.4059C>TSubstitution - coding silent
DCAF8L1ENSG00000226372ENST00000441525p.S214Sc.642C>TSubstitution - coding silent
IQCHENSG00000103599ENST00000360277p.T530Ac.1588A>GSubstitution - Missense
SNAP47ENSG00000143740ENST00000315781p.A157Tc.469G>ASubstitution - Missense
FLT1ENSG00000102755ENST00000543394p.V237Ac.710T>CSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.L1890Pc.5669T>CSubstitution - Missense
ENST00000360245p.E140Kc.418G>ASubstitution - Missense
APLNRENSG00000134817ENST00000257254p.W51Rc.151T>CSubstitution - Missense
FAT3ENSG00000165323ENST00000541502p.T654Tc.1962A>CSubstitution - coding silent
CDH23ENSG00000107736ENST00000442677p.?c.1504+10C>TUnknown
ENST00000446546p.?c.711+4A>GUnknown
ARID5BENSG00000150347ENST00000309334p.K800Rc.2399A>GSubstitution - Missense
SCN9AENSG00000169432ENST00000409672p.T96fs*20c.286delADeletion - Frameshift
MTSS1ENSG00000170873ENST00000518547p.R134Cc.400C>TSubstitution - Missense
COL22A1ENSG00000169436ENST00000303045p.P1287Sc.3859C>TSubstitution - Missense
RGS3ENSG00000138835ENST00000374140p.L948Lc.2842C>TSubstitution - coding silent
KLHL6ENSG00000172578ENST00000341319p.R308Cc.922C>TSubstitution - Missense
HTR3CENSG00000178084ENST00000318351p.E387fs*>62c.1154_1155insGInsertion - Frameshift
ENST00000371401p.H144Hc.432C>TSubstitution - coding silent
OTOAENSG00000155719ENST00000388957p.S124Ic.371G>TSubstitution - Missense
NWD1ENSG00000188039ENST00000339803p.*1430fs?c.4289delADeletion - Frameshift
NWD1ENSG00000188039ENST00000524140p.L337fs*20c.1009_1010insCInsertion - Frameshift
RBBP6ENSG00000122257ENST00000319715p.Y799Cc.2396A>GSubstitution - Missense
EPHA5ENSG00000145242ENST00000273854p.E870Gc.2609A>GSubstitution - Missense
JAKMIP1ENSG00000152969ENST00000409021p.L695Pc.2084T>CSubstitution - Missense
SCN2AENSG00000136531ENST00000375427p.?c.971-6A>CUnknown
SCN2AENSG00000136531ENST00000375427p.K1180Ec.3538A>GSubstitution - Missense
SGSM1ENSG00000167037ENST00000400359p.D812Yc.2434G>TSubstitution - Missense
PPIL2ENSG00000100023ENST00000335025p.R427Hc.1280G>ASubstitution - Missense
MCF2ENSG00000101977ENST00000370573p.F611fs*8c.1832delTDeletion - Frameshift
DPY19L1ENSG00000173852ENST00000310974p.R568Qc.1703G>ASubstitution - Missense
ZNF449ENSG00000173275ENST00000339249p.A504Vc.1511C>TSubstitution - Missense
ARHGEF5ENSG00000050327ENST00000056217p.?c.4051-1G>AUnknown
TNRC18ENSG00000182095ENST00000430969p.P264Hc.791C>ASubstitution - Missense
NUDCD3ENSG00000015676ENST00000355451p.C260Cc.780C>TSubstitution - coding silent
OXR1ENSG00000164830ENST00000442977p.P162Pc.486T>GSubstitution - coding silent
KCNH2ENSG00000055118ENST00000430723p.L401Mc.1201C>ASubstitution - Missense
ENST00000319589p.T36Tc.108G>ASubstitution - coding silent
ARAP3ENSG00000120318ENST00000239440p.R382Hc.1145G>ASubstitution - Missense
ENST00000377560_v62p.H1451Hc.4353C>TSubstitution - coding silent
ACAD10ENSG00000111271ENST00000313698p.L666Lc.1998G>ASubstitution - coding silent
DDX17ENSG00000100201ENST00000381633p.K42fs*4c.125delADeletion - Frameshift
CD4ENSG00000010610ENST00000011653p.K167fs*31c.492delGDeletion - Frameshift
DAB2IPENSG00000136848ENST00000259371p.H997fs*5c.2982delCDeletion - Frameshift
DPH1ENSG00000108963ENST00000263083p.S221Pc.661T>CSubstitution - Missense
PDE4AENSG00000065989ENST00000344979p.R457Mc.1370G>TSubstitution - Missense
TMPOENSG00000120802ENST00000556029p.T99fs*12c.288delADeletion - Frameshift
BMPR2ENSG00000204217ENST00000374580p.N583fs*44c.1742delADeletion - Frameshift
SUCOENSG00000094975ENST00000367723p.A244Tc.730G>ASubstitution - Missense
LCTLENSG00000188501ENST00000341509p.V105Ac.314T>CSubstitution - Missense
RIPK4ENSG00000183421ENST00000352483p.G718Cc.2152G>TSubstitution - Missense
PAX8ENSG00000125618ENST00000429538p.P263Pc.789G>ASubstitution - coding silent
TBC1D2ENSG00000095383ENST00000375066p.V795Mc.2383G>ASubstitution - Missense
RNF43ENSG00000108375ENST00000407977p.G659fs*41c.1976delGDeletion - Frameshift
MYO1BENSG00000128641ENST00000339514p.S730fs*4c.2182delADeletion - Frameshift
COBLENSG00000106078ENST00000395542p.?c.686-5T>CUnknown
PLECENSG00000178209ENST00000356346p.E4396Gc.13187A>GSubstitution - Missense
SSX3ENSG00000165584ENST00000298396p.?c.70-9T>GUnknown
MAGIXENSG00000017621ENST00000376338p.E211Ac.632A>CSubstitution - Missense
MYO10ENSG00000145555ENST00000513610p.G1749Gc.5247C>TSubstitution - coding silent
PDE4AENSG00000065989ENST00000380702p.R674Mc.2021G>TSubstitution - Missense
CLASP1ENSG00000074054ENST00000455322p.G70Gc.210C>TSubstitution - coding silent
TRIP12ENSG00000153827ENST00000543084p.D28Nc.82G>ASubstitution - Missense
PIGXENSG00000163964ENST00000296333p.R78Hc.233G>ASubstitution - Missense
SONENSG00000159140ENST00000290239p.P960Pc.2880T>CSubstitution - coding silent
KCNMA1ENSG00000156113ENST00000372443p.Y676fs*7c.2019_2020insTInsertion - Frameshift
ALDH1L2ENSG00000136010ENST00000258494p.R847Qc.2540G>ASubstitution - Missense
SHOC2ENSG00000108061ENST00000369452p.I280Tc.839T>CSubstitution - Missense
ZBTB18ENSG00000179456ENST00000358704p.D406Dc.1218C>TSubstitution - coding silent
FMN2ENSG00000155816ENST00000319653p.P1317Pc.3951C>TSubstitution - coding silent
AHNAKENSG00000124942ENST00000378024p.A2229Vc.6686C>TSubstitution - Missense
PPFIA1ENSG00000131626ENST00000253925p.H170Rc.509A>GSubstitution - Missense
UCP2ENSG00000175567ENST00000310473p.M69Vc.205A>GSubstitution - Missense
NTRK3ENSG00000140538ENST00000360948p.Y604Cc.1811A>GSubstitution - Missense
TROAPENSG00000135451ENST00000380327p.V24Ac.71T>CSubstitution - Missense
TBCEENSG00000116957ENST00000366601p.R88Hc.263G>ASubstitution - Missense
POLEENSG00000177084ENST00000320574p.?c.2469-2A>GUnknown
C12orf54ENSG00000177627ENST00000314014p.R62Rc.186G>TSubstitution - coding silent
KIRRELENSG00000183853ENST00000368173p.Q767Qc.2301G>ASubstitution - coding silent
CDK11BENSG00000248333ENST00000317673p.Q104Hc.312G>TSubstitution - Missense
RRM1ENSG00000167325ENST00000300738p.Y517Yc.1551C>TSubstitution - coding silent
LRP4ENSG00000134569ENST00000378623p.R694Hc.2081G>ASubstitution - Missense
FHAD1ENSG00000142621ENST00000375999p.R1158*c.3472C>TSubstitution - Nonsense
CKAP5ENSG00000175216ENST00000529230p.?c.5856+2T>CUnknown
LCORENSG00000196233ENST00000371103p.K243fs*3c.723delADeletion - Frameshift
BAZ2AENSG00000076108ENST00000379441p.H1646Hc.4938T>CSubstitution - coding silent
LOXL1ENSG00000129038ENST00000261921p.D371Dc.1113C>TSubstitution - coding silent
ENST00000300576_v68p.Q319Qc.957G>ASubstitution - coding silent
PAN2ENSG00000135473ENST00000440411p.Y150Cc.449A>GSubstitution - Missense
MARCH8ENSG00000165406ENST00000395769p.C269Yc.806G>ASubstitution - Missense
CDC42BPAENSG00000143776ENST00000366767p.K832Kc.2496A>GSubstitution - coding silent
TLN2ENSG00000171914ENST00000306829p.T805Tc.2415T>CSubstitution - coding silent
MEGF11ENSG00000157890ENST00000409699p.N987fs*44c.2960delADeletion - Frameshift
PLEKHO2ENSG00000241839ENST00000323544p.R39Qc.116G>ASubstitution - Missense
SHFENSG00000138606ENST00000318390p.L52*c.155T>ASubstitution - Nonsense
MRPL37ENSG00000116221ENST00000360840p.I263Ic.789C>TSubstitution - coding silent
GON4LENSG00000116580ENST00000437809p.N1240Tc.3719A>CSubstitution - Missense
GON4LENSG00000116580ENST00000437809p.N1240Tc.3719A>CSubstitution - Missense
CACNA1CENSG00000151067ENST00000399634p.R1027Wc.3079C>TSubstitution - Missense
IGFN1ENSG00000163395ENST00000335211p.?c.776-4C>AUnknown
KIAA1731ENSG00000166004ENST00000325212p.?c.5597-10T>CUnknown
DDX55ENSG00000111364ENST00000238146p.A401Vc.1202C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.Q2071*c.6211C>TSubstitution - Nonsense
RIMBP2ENSG00000060709ENST00000261655p.L79fs*15c.235delCDeletion - Frameshift
ACRBPENSG00000111644ENST00000229243p.E229Gc.686A>GSubstitution - Missense
PADI4ENSG00000159339ENST00000375448p.?c.1630-8T>GUnknown
POLR3CENSG00000186141ENST00000334163p.Q49Rc.146A>GSubstitution - Missense
PHLDB1ENSG00000019144ENST00000361417p.R1346Rc.4038G>ASubstitution - coding silent
NLRP6ENSG00000174885ENST00000312165p.G842Gc.2526C>TSubstitution - coding silent
MUC15ENSG00000169550ENST00000436318p.S222Sc.666T>CSubstitution - coding silent
ANO5ENSG00000171714ENST00000324559p.T514Tc.1542A>GSubstitution - coding silent
ANGEL1ENSG00000013523ENST00000251089p.T329Tc.987C>ASubstitution - coding silent
TTLL5ENSG00000119685ENST00000298832p.L206fs*12c.614delTDeletion - Frameshift
FBXO18ENSG00000134452ENST00000379999p.H202Rc.605A>GSubstitution - Missense
CHD2ENSG00000173575ENST00000394196p.S1087Sc.3261T>CSubstitution - coding silent
POGZENSG00000143442ENST00000271715p.L1161Lc.3483A>GSubstitution - coding silent
TMEM120BENSG00000188735ENST00000342607p.F304Fc.912C>TSubstitution - coding silent
ELL3ENSG00000128886ENST00000319359p.E182Ec.546G>ASubstitution - coding silent
POGKENSG00000143157ENST00000367875p.N243Nc.729C>TSubstitution - coding silent
FRMD5ENSG00000171877ENST00000417257p.A220Ac.660A>GSubstitution - coding silent
PUM1ENSG00000134644ENST00000257075p.A571Tc.1711G>ASubstitution - Missense
ROBO2ENSG00000185008ENST00000487694p.P1257Lc.3770C>TSubstitution - Missense
MAST1ENSG00000105613ENST00000251472p.G1223Dc.3668G>ASubstitution - Missense
BPTFENSG00000171634ENST00000335221p.T1829Ac.5485A>GSubstitution - Missense
CLUHENSG00000132361ENST00000435359p.G234Rc.700G>ASubstitution - Missense
DOCK5ENSG00000147459ENST00000276440p.Q1035Rc.3104A>GSubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.A335Tc.1003G>ASubstitution - Missense
UBAP2ENSG00000137073ENST00000379238p.A936Tc.2806G>ASubstitution - Missense
LSM14BENSG00000149657ENST00000279068p.A127Vc.380C>TSubstitution - Missense
RRASENSG00000126458ENST00000246792p.R113Wc.337C>TSubstitution - Missense
ENST00000253720p.Y342Cc.1025A>GSubstitution - Missense
EVPLENSG00000167880ENST00000301607p.A602Tc.1804G>ASubstitution - Missense
ITGB4ENSG00000132470ENST00000200181p.T393Ac.1177A>GSubstitution - Missense
FLIIENSG00000177731ENST00000327031p.?c.3610-7C>TUnknown
IGSF1ENSG00000147255ENST00000361420p.?c.2321-9G>AUnknown
RGAG1ENSG00000243978ENST00000465301p.L528Lc.1582T>CSubstitution - coding silent
TRPC5ENSG00000072315ENST00000262839p.Q629Rc.1886A>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.G4382Cc.13144G>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T3909Mc.11726C>TSubstitution - Missense
TASP1ENSG00000089123ENST00000337743p.A315Ac.945T>CSubstitution - coding silent
PLCG2ENSG00000197943ENST00000359376p.A180Vc.539C>TSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000307431p.S913Sc.2739T>CSubstitution - coding silent
FPGTENSG00000254685ENST00000370898p.?c.250+5G>AUnknown
SGIP1ENSG00000118473ENST00000371037p.P355fs*22c.1059delCDeletion - Frameshift
TNNI3KENSG00000116783ENST00000326637p.T11Tc.33T>CSubstitution - coding silent
ODF2LENSG00000122417ENST00000370567p.C327Fc.980G>TSubstitution - Missense
IL12RB2ENSG00000081985ENST00000262345p.G774Cc.2320G>TSubstitution - Missense
GAS6ENSG00000183087ENST00000327773p.M137Tc.410T>CSubstitution - Missense
UPF3AENSG00000169062ENST00000375299p.Q229Rc.686A>GSubstitution - Missense
FAM98BENSG00000171262ENST00000397609p.M197Vc.589A>GSubstitution - Missense
LIFRENSG00000113594ENST00000263409p.I224Ic.672T>CSubstitution - coding silent
CCDC88CENSG00000015133ENST00000389857p.R1155Gc.3463A>GSubstitution - Missense
SOX11ENSG00000176887ENST00000322002p.A45Ac.135G>ASubstitution - coding silent
SPHKAPENSG00000153820ENST00000392056p.R1131Mc.3392G>TSubstitution - Missense
USP40ENSG00000085982ENST00000450966p.T713Tc.2139G>ASubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.G4997Gc.14991A>GSubstitution - coding silent
F8ENSG00000185010ENST00000360256p.N1092fs*46c.3275delADeletion - Frameshift
SYNE1ENSG00000131018ENST00000265368p.T2659Ac.7975A>GSubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.Q2423Rc.7268A>GSubstitution - Missense
CDH8ENSG00000150394ENST00000577390p.?c.1414+9C>AUnknown
MRPS9ENSG00000135972ENST00000258455p.?c.651+4A>GUnknown
STPG2ENSG00000163116ENST00000295268p.S233Tc.697T>ASubstitution - Missense
ENST00000543338p.?c.769+3A>GUnknown
OXSR1ENSG00000172939ENST00000311806p.L171fs*1c.507delTDeletion - Frameshift
RBM3ENSG00000102317ENST00000354480p.T117Ac.349A>GSubstitution - Missense
SMC1AENSG00000072501ENST00000322213p.?c.1911+7A>GUnknown
CHRNB1ENSG00000170175ENST00000306071p.R232Hc.695G>ASubstitution - Missense
ZNF628ENSG00000197483ENST00000391718p.Q238fs*185c.706delCDeletion - Frameshift
ZNF628ENSG00000197483ENST00000391718p.Q238fs*185c.706delCDeletion - Frameshift
HUWE1ENSG00000086758ENST00000342160p.I261fs*8c.780_781delCADeletion - Frameshift
ZNF329ENSG00000181894ENST00000358067p.H529Hc.1587T>CSubstitution - coding silent
LIPIENSG00000188992ENST00000344577p.Y358Hc.1072T>CSubstitution - Missense
BANPENSG00000172530ENST00000355163p.I359Tc.1076T>CSubstitution - Missense
CTU2ENSG00000174177ENST00000453996p.C388Yc.1163G>ASubstitution - Missense
PER2ENSG00000132326ENST00000254657p.R644Hc.1931G>ASubstitution - Missense
CECR2ENSG00000099954ENST00000262608p.P128Lc.383C>TSubstitution - Missense
ENST00000356127p.P10000Lc.29999C>TSubstitution - Missense
CLTCL1ENSG00000070371ENST00000263200p.S903Rc.2709C>ASubstitution - Missense
C8orf34ENSG00000165084ENST00000518698p.S105Pc.313T>CSubstitution - Missense
PLECENSG00000178209ENST00000322810p.T1199Mc.3596C>TSubstitution - Missense
PIK3CAENSG00000121879ENST00000263967p.C472Yc.1415G>ASubstitution - Missense
ENSG00000272333ENST00000222270p.T2085Tc.6255G>ASubstitution - coding silent
UBAC1ENSG00000130560ENST00000371756p.E6delEc.16_18delGAGDeletion - In frame
TTF1ENSG00000125482ENST00000334270p.L418Fc.1252C>TSubstitution - Missense
DDX31ENSG00000125485ENST00000310532p.E565Gc.1694A>GSubstitution - Missense
PMPCAENSG00000165688ENST00000371717p.R77Rc.231C>TSubstitution - coding silent
AKAP1ENSG00000121057ENST00000337714p.A348Vc.1043C>TSubstitution - Missense
HDAC5ENSG00000108840ENST00000393622p.R408Rc.1224G>TSubstitution - coding silent
EPB41L4BENSG00000095203ENST00000374566p.?c.631+2T>CUnknown
CEP85LENSG00000111860ENST00000368488p.Q424Qc.1272A>GSubstitution - coding silent
MKL1ENSG00000196588ENST00000355630p.L489Pc.1466T>CSubstitution - Missense
DSTENSG00000151914ENST00000370769p.A2901fs*3c.8700delADeletion - Frameshift
RASA1ENSG00000145715ENST00000274376p.?c.2691-20_2691>17Unknown
NR2F1ENSG00000175745ENST00000327111p.A338Vc.1013C>TSubstitution - Missense
DENND6BENSG00000205593ENST00000413817p.L270Ic.808C>ASubstitution - Missense
STXBP5LENSG00000145087ENST00000273666p.?c.1959-9C>TUnknown
SRCAPENSG00000080603ENST00000262518p.G2530Gc.7590T>CSubstitution - coding silent
ATXN2LENSG00000168488ENST00000395547p.V857Ic.2569G>ASubstitution - Missense
FBXO46ENSG00000177051ENST00000317683p.G575Sc.1723G>ASubstitution - Missense
CUX1ENSG00000257923ENST00000292538p.K357Nc.1071A>TSubstitution - Missense
CEP152ENSG00000103995ENST00000380950p.I591Ic.1773T>CSubstitution - coding silent
UCHL5ENSG00000116750ENST00000367448p.W58*c.174G>ASubstitution - Nonsense
ENST00000406302p.D369Dc.1107T>CSubstitution - coding silent
MCF2LENSG00000126217ENST00000434480p.T442Mc.1325C>TSubstitution - Missense
CYB5R2ENSG00000166394ENST00000524790p.R118*c.352C>TSubstitution - Nonsense
SQLEENSG00000104549ENST00000265896p.P85fs*25c.248delCDeletion - Frameshift
MYO3BENSG00000071909ENST00000408978p.H411fs*38c.1225delCDeletion - Frameshift
DLC1ENSG00000164741ENST00000276297p.E1139Gc.3416A>GSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.Y2182Yc.6546C>TSubstitution - coding silent
DCAF16ENSG00000163257ENST00000382247p.G176Gc.528G>ASubstitution - coding silent
HK3ENSG00000160883ENST00000292432p.L323Lc.969G>ASubstitution - coding silent
HCRTR2ENSG00000137252ENST00000370862p.C12fs*12c.32_33insCInsertion - Frameshift
ECI1ENSG00000167969ENST00000301729p.V227Ic.679G>ASubstitution - Missense
EYA2ENSG00000064655ENST00000327619p.A415Vc.1244C>TSubstitution - Missense
ZNF449ENSG00000173275ENST00000370761p.Q15Rc.44A>GSubstitution - Missense
CCNJLENSG00000135083ENST00000393977p.R20Hc.59G>ASubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.E468delEc.1403_1405delAAGDeletion - In frame
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
ENST00000319379p.M3567Ic.10701G>TSubstitution - Missense
OGDHENSG00000105953ENST00000543843p.A330Vc.989C>TSubstitution - Missense
COBLENSG00000106078ENST00000265136p.?c.686-5T>CUnknown
MAGEA3ENSG00000221867ENST00000370278p.A207Tc.619G>ASubstitution - Missense
PCDHA11ENSG00000249158ENST00000398640p.K676Kc.2028G>ASubstitution - coding silent
IBTKENSG00000005700ENST00000306270p.L1209Pc.3626T>CSubstitution - Missense
DISP1ENSG00000154309ENST00000284476p.F1021Lc.3061T>CSubstitution - Missense
PRDM4ENSG00000110851ENST00000228437p.N485Dc.1453A>GSubstitution - Missense
SNX15ENSG00000110025ENST00000377244p.R51Wc.151C>TSubstitution - Missense
CEP164ENSG00000110274ENST00000278935p.T1330Mc.3989C>TSubstitution - Missense
TTKENSG00000112742ENST00000369798p.R854fs*>4c.2552_2553delAADeletion - Frameshift
TTF1ENSG00000125482ENST00000334270p.K279fs*144c.836delADeletion - Frameshift
ENST00000378682p.A1114Tc.3340G>ASubstitution - Missense
PRPF31ENSG00000105618ENST00000321030p.T138Tc.414G>ASubstitution - coding silent
DPCDENSG00000166171ENST00000370151p.D32Dc.96C>TSubstitution - coding silent
IGFN1ENSG00000163395ENST00000335211p.P2926Lc.8777C>TSubstitution - Missense
ZFAND4ENSG00000172671ENST00000344646p.R586Cc.1756C>TSubstitution - Missense
RIMS2ENSG00000176406ENST00000507740p.G434fs*3c.1293delADeletion - Frameshift
GSE1ENSG00000131149ENST00000253458p.V123fs*17c.366_367insCInsertion - Frameshift
PKD1L1ENSG00000158683ENST00000433506p.E153*c.457G>TSubstitution - Nonsense
RABL6ENSG00000196642ENST00000435930p.S105Nc.314G>ASubstitution - Missense
TRERF1ENSG00000124496ENST00000372917p.P584Sc.1750C>TSubstitution - Missense
FDXRENSG00000161513ENST00000455107p.L236Vc.706C>GSubstitution - Missense
NPLOC4ENSG00000182446ENST00000374747p.Y447Cc.1340A>GSubstitution - Missense
FASNENSG00000169710ENST00000306749p.A433Ac.1299C>TSubstitution - coding silent
MAP4K4ENSG00000071054ENST00000350198p.S1020Sc.3060A>GSubstitution - coding silent
MED16ENSG00000175221ENST00000312090p.R42Qc.125G>ASubstitution - Missense
FAM149AENSG00000109794ENST00000356371p.R436Rc.1308C>TSubstitution - coding silent
FILIP1ENSG00000118407ENST00000393004p.Q294fs*5c.880_883delCAGADeletion - Frameshift
SETXENSG00000107290ENST00000372169p.K473fs*8c.1419delADeletion - Frameshift
CTNND1ENSG00000198561ENST00000361391p.Q107fs*17c.315delGDeletion - Frameshift
ERBB2IPENSG00000112851ENST00000284037p.N113fs*5c.333delADeletion - Frameshift
AREL1ENSG00000119682ENST00000356357p.?c.1300+8T>CUnknown
RCSD1ENSG00000198771ENST00000367854p.S135Gc.403A>GSubstitution - Missense
ARFIP2ENSG00000132254ENST00000396777p.I95Ic.285C>TSubstitution - coding silent
SYVN1ENSG00000162298ENST00000377190p.L611Pc.1832T>CSubstitution - Missense
ENST00000398860p.?c.2968+10C>TUnknown
ENSG00000212743ENST00000391437p.T53Sc.157A>TSubstitution - Missense
CTNNA3ENSG00000183230ENST00000433211p.N461Sc.1382A>GSubstitution - Missense
RSC1A1ENSG00000215695ENST00000345034p.E554Gc.1661A>GSubstitution - Missense
AGO3ENSG00000126070ENST00000373191p.?c.1029+46_1149+347del852Unknown
BRCA2ENSG00000139618ENST00000544455p.A1439Ac.4317C>TSubstitution - coding silent
CPXM2ENSG00000121898ENST00000241305p.R444Hc.1331G>ASubstitution - Missense
PSTKENSG00000179988ENST00000368887p.G173Dc.518G>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.A221fs*40c.661delGDeletion - Frameshift
GPR137BENSG00000077585ENST00000366591p.P121Pc.363T>GSubstitution - coding silent
EPHB2ENSG00000133216ENST00000374627p.M335Vc.1003A>GSubstitution - Missense
RASSF9ENSG00000198774ENST00000361228p.M204Lc.610A>TSubstitution - Missense
NM_014903.3p.V1544Ac.4631T>CSubstitution - Missense
ENST00000224764p.L59fs*1c.171delTDeletion - Frameshift
PMLENSG00000140464ENST00000268059p.A300Vc.899C>TSubstitution - Missense
NAA16ENSG00000172766ENST00000379406p.R549Rc.1647A>GSubstitution - coding silent
EIF4G3ENSG00000075151ENST00000264211p.A435Ac.1305T>CSubstitution - coding silent
IARS2ENSG00000067704ENST00000302637p.G604Rc.1810G>ASubstitution - Missense
UBE4BENSG00000130939ENST00000343090p.I999Vc.2995A>GSubstitution - Missense
NM_033667.1p.Y219Cc.656A>GSubstitution - Missense
C10orf25ENSG00000165511ENST00000298298p.D29Gc.86A>GSubstitution - Missense
ZNF341ENSG00000131061ENST00000342427p.D424Gc.1271A>GSubstitution - Missense
RTFDC1ENSG00000022277ENST00000023939p.A205Tc.613G>ASubstitution - Missense
ZNF536ENSG00000198597ENST00000355537p.F283Sc.848T>CSubstitution - Missense
XM_210048.3p.Y100Cc.299A>GSubstitution - Missense
ZNF18ENSG00000154957ENST00000322748p.H482Hc.1446C>TSubstitution - coding silent
TDRD15ENSG00000218819ENST00000405799p.D634fs*6c.1893delADeletion - Frameshift
FAM171BENSG00000144369ENST00000304698p.R820Hc.2459G>ASubstitution - Missense
DNAJC6ENSG00000116675ENST00000395325p.P645Rc.1934C>GSubstitution - Missense
NM_014363.3p.S3828Rc.11482A>CSubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.?c.3063+3T>CUnknown
TTC33ENSG00000113638ENST00000337702p.K13delKc.37_39delAAGDeletion - In frame
C14orf37ENSG00000139971ENST00000267485p.D316Gc.947A>GSubstitution - Missense
LRRK1ENSG00000154237ENST00000388948p.L516Mc.1546C>ASubstitution - Missense
SU_LRRK1p.S798Fc.2393C>TSubstitution - Missense
LRRK1ENSG00000154237ENST00000284395p.S783Fc.2348C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.A335Vc.1004C>TSubstitution - Missense
PPFIA4ENSG00000143847ENST00000272198p.H575Hc.1725T>CSubstitution - coding silent
ATP2B4ENSG00000058668ENST00000367218p.R607Wc.1819C>TSubstitution - Missense
TMPRSS5ENSG00000166682ENST00000299882p.R387fs*23c.1159delCDeletion - Frameshift
PAPPA2ENSG00000116183ENST00000367662p.P81Pc.243C>TSubstitution - coding silent
PAPPA2ENSG00000116183ENST00000367661p.P81Pc.243C>TSubstitution - coding silent
NXPE2ENSG00000204361ENST00000389586p.T492Ic.1475C>TSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.V5056Vc.15168T>CSubstitution - coding silent
ACSM3ENSG00000005187ENST00000440284p.L19Pc.56T>CSubstitution - Missense
ANO7ENSG00000146205ENST00000402430p.P753Pc.2259G>CSubstitution - coding silent
UNC50ENSG00000115446ENST00000357765p.R42Qc.125G>ASubstitution - Missense
CECR5ENSG00000069998ENST00000336737p.?c.537+2T>CUnknown
DGCR2ENSG00000070413ENST00000263196p.G71Rc.211G>CSubstitution - Missense
RAB27BENSG00000041353ENST00000262094p.?c.468-7A>GUnknown
CHMP4CENSG00000164695ENST00000297265p.Q151Rc.452A>GSubstitution - Missense
CCDC132ENSG00000004766ENST00000251739p.?c.702+9T>CUnknown
PLECENSG00000178209ENST00000322810p.R733Qc.2198G>ASubstitution - Missense
NCOA2ENSG00000140396ENST00000452400p.R1240Gc.3718A>GSubstitution - Missense
GNAI2ENSG00000114353ENST00000313601p.V180Ac.539T>CSubstitution - Missense
NUP205ENSG00000155561ENST00000285968p.*2013Rc.6037T>CNonstop extension
RNF123ENSG00000164068ENST00000327697p.P1261Pc.3783C>ASubstitution - coding silent
RBM15BENSG00000179837ENST00000323686p.Q500Rc.1499A>GSubstitution - Missense
DTHD1ENSG00000197057ENST00000357504p.R539Cc.1615C>TSubstitution - Missense
ZNF141ENSG00000131127ENST00000240499p.G195Ec.584G>ASubstitution - Missense
KIF13AENSG00000137177ENST00000259711p.A364Vc.1091C>TSubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.M576Vc.1726A>GSubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.D1266Nc.3796G>ASubstitution - Missense
ARL13BENSG00000169379ENST00000303097p.I257Vc.769A>GSubstitution - Missense
GPR179ENSG00000188888ENST00000342292p.A698Ac.2094C>TSubstitution - coding silent
CABS1ENSG00000145309ENST00000273936p.D342Yc.1024G>TSubstitution - Missense
COL6A1ENSG00000142156ENST00000361866p.S348Sc.1044G>ASubstitution - coding silent
KRTAP10-6ENSG00000188155ENST00000400368p.V311_C312insQVHLLPPSc.933_934ins24Insertion - In frame
ENSG00000188474ENST00000339302p.S51fs*9c.150_151insAInsertion - Frameshift
DTNAENSG00000134769ENST00000444659p.C258Cc.774C>TSubstitution - coding silent
TYK2ENSG00000105397ENST00000525621p.Y376Hc.1126T>CSubstitution - Missense
AXIN2ENSG00000168646ENST00000307078p.P364Pc.1092C>TSubstitution - coding silent
PPAPDC2ENSG00000205808ENST00000381883p.R190Hc.569G>ASubstitution - Missense
CALUENSG00000128595ENST00000249364p.N40Ic.119A>TSubstitution - Missense
SEMA6BENSG00000167680ENST00000301293p.A184Vc.551C>TSubstitution - Missense
TBX6ENSG00000149922ENST00000395224p.A55Gc.164C>GSubstitution - Missense
PLEKHB2ENSG00000115762ENST00000234115p.A208Tc.622G>ASubstitution - Missense
FOXP4ENSG00000137166ENST00000373060p.L272fs*95c.807delADeletion - Frameshift
SLC26A5ENSG00000170615ENST00000339444p.I57fs*1c.169delADeletion - Frameshift
MUC12ENSG00000205277ENST00000536621p.S1694Nc.5081G>ASubstitution - Missense
H1FOOENSG00000178804ENST00000324382p.S336Sc.1008A>GSubstitution - coding silent
DMDENSG00000198947ENST00000378677p.Q3264Qc.9792A>GSubstitution - coding silent
OPN1LWENSG00000102076ENST00000369951p.M79Vc.235A>GSubstitution - Missense
ADGBENSG00000118492ENST00000367488p.P149Pc.447G>ASubstitution - coding silent
NFE2L3ENSG00000050344ENST00000056233p.G448Gc.1344T>CSubstitution - coding silent
CNOT6ENSG00000113300ENST00000393356p.S19Ac.55T>GSubstitution - Missense
IFNGR1ENSG00000027697ENST00000367739p.I143Vc.427A>GSubstitution - Missense
ENST00000330166p.R286Hc.857G>ASubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.P415Rc.1244C>GSubstitution - Missense
SSR3ENSG00000114850ENST00000265044p.?c.360-7T>CUnknown
FAM65AENSG00000039523ENST00000042381p.S636Sc.1908A>GSubstitution - coding silent
AMZ2ENSG00000196704ENST00000392720p.S207Sc.621T>CSubstitution - coding silent
TMEM104ENSG00000109066ENST00000335464p.V362Ic.1084G>ASubstitution - Missense
TBC1D8ENSG00000204634ENST00000376840p.L343Pc.1028T>CSubstitution - Missense
MED14ENSG00000180182ENST00000324817p.?c.216-5_242+11>39Unknown
ARHGAP24ENSG00000138639ENST00000264343p.S278Gc.832A>GSubstitution - Missense
SYTL5ENSG00000147041ENST00000297875p.K633fs*21c.1893delADeletion - Frameshift
C2orf16ENSG00000221843ENST00000408964p.S1484Gc.4450A>GSubstitution - Missense
BRPF1ENSG00000156983ENST00000383829p.P914Lc.2741C>TSubstitution - Missense
CHEK2ENSG00000183765ENST00000328354p.R132fs*29c.394delADeletion - Frameshift
ZMAT5ENSG00000100319ENST00000344318p.N26Nc.78C>TSubstitution - coding silent
COL9A3ENSG00000092758ENST00000343916p.G415Gc.1245C>ASubstitution - coding silent
KMT2CENSG00000055609ENST00000355193p.S965Sc.2895T>CSubstitution - coding silent
CABIN1ENSG00000099991ENST00000398319p.?c.4911-8G>CUnknown
KIAA1671ENSG00000197077ENST00000358431p.S1701Sc.5103G>ASubstitution - coding silent
IFNL3ENSG00000197110ENST00000413851p.K164fs*23c.491delADeletion - Frameshift
FGF13ENSG00000129682ENST00000315930p.A6Ac.18C>ASubstitution - coding silent
CBLL1ENSG00000105879ENST00000440859p.V106Fc.316G>TSubstitution - Missense
EGFRENSG00000146648ENST00000275493p.F1151Fc.3453C>TSubstitution - coding silent
VPS13BENSG00000132549ENST00000357162p.K2292Kc.6876A>GSubstitution - coding silent
NOS3ENSG00000164867ENST00000297494p.R1067Hc.3200G>ASubstitution - Missense
EPB41L2ENSG00000079819ENST00000368128p.?c.2608-10deltUnknown
PCDHGA12ENSG00000253159ENST00000252085p.A735Vc.2204C>TSubstitution - Missense
DHX40ENSG00000108406ENST00000251241p.?c.1424+3_1424+10delaaaaaaaaUnknown
NUP88ENSG00000108559ENST00000573584p.K600Kc.1800A>GSubstitution - coding silent
KRT13ENSG00000171401ENST00000246635p.R289Hc.866G>ASubstitution - Missense
DMXL1ENSG00000172869ENST00000311085p.S1863Nc.5588G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000406316p.K674Nc.2022G>TSubstitution - Missense
ENST00000317726p.D294Dc.882C>TSubstitution - coding silent
TBL1XENSG00000101849ENST00000407597p.T502Mc.1505C>TSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.M2248Vc.6742A>GSubstitution - Missense
CETN3ENSG00000153140ENST00000283122p.R19fs*27c.55delADeletion - Frameshift
TTLL8ENSG00000138892ENST00000440475p.A703Vc.2108C>TSubstitution - Missense
BTBD9ENSG00000183826ENST00000314100p.D273Gc.818A>GSubstitution - Missense
ZNF682ENSG00000197124ENST00000397165p.K485fs*>14c.1455delADeletion - Frameshift
SMARCA5ENSG00000153147ENST00000283131p.M429Tc.1286T>CSubstitution - Missense
AKAP1ENSG00000121057ENST00000337714p.S309Gc.925A>GSubstitution - Missense
CTU2ENSG00000174177ENST00000567949p.C459Yc.1376G>ASubstitution - Missense
TRIP12ENSG00000153827ENST00000543084p.S171Pc.511T>CSubstitution - Missense
LSM14BENSG00000149657ENST00000253001p.A127Vc.380C>TSubstitution - Missense
CTNND1ENSG00000198561ENST00000399050p.Q107fs*17c.315delGDeletion - Frameshift
DNAH17ENSG00000187775ENST00000389840p.N4125fs*34c.12372delCDeletion - Frameshift
RINLENSG00000187994ENST00000591812p.A452fs*8c.1354delGDeletion - Frameshift
FCRL3ENSG00000160856ENST00000368186p.R272fs*3c.814delADeletion - Frameshift
CACNA1IENSG00000100346ENST00000336649p.F1323delFc.3963_3965delCTTDeletion - In frame
NOP14ENSG00000087269ENST00000398071p.E341Kc.1021G>ASubstitution - Missense
CACNA1HENSG00000196557ENST00000348261p.V1299Mc.3895G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.D2147Gc.6440A>GSubstitution - Missense
MIA3ENSG00000154305ENST00000340535p.F71Lc.213T>ASubstitution - Missense
ACADMENSG00000117054ENST00000420607p.R285Kc.854G>ASubstitution - Missense
ZNF684ENSG00000117010ENST00000372697p.F4Lc.10T>CSubstitution - Missense
ARHGEF2ENSG00000116584ENST00000361247p.G477Dc.1430G>ASubstitution - Missense
KLENSG00000133116ENST00000426690p.?c.409+3A>GUnknown
PCDH9ENSG00000184226ENST00000377861p.T979Tc.2937C>ASubstitution - coding silent
IQCDENSG00000166578ENST00000416617p.I184Vc.550A>GSubstitution - Missense
SYT15ENSG00000204176ENST00000374323p.D264Dc.792C>TSubstitution - coding silent
KBTBD4ENSG00000123444ENST00000430070p.R172Rc.514C>ASubstitution - coding silent
NCOA4ENSG00000138293ENST00000374082p.K209Kc.627A>GSubstitution - coding silent
MINPP1ENSG00000107789ENST00000536010p.R232Qc.695G>ASubstitution - Missense
CCNYENSG00000108100ENST00000374704p.Y202Yc.606C>TSubstitution - coding silent
XIRP2ENSG00000163092ENST00000295237p.R864Cc.2590C>TSubstitution - Missense
PBX3ENSG00000167081ENST00000373489p.A312Vc.935C>TSubstitution - Missense
SLC25A25ENSG00000148339ENST00000373068p.D408Gc.1223A>GSubstitution - Missense
PTCHD4ENSG00000244694ENST00000339488p.E84Ec.252G>ASubstitution - coding silent
ANKS4BENSG00000175311ENST00000311620p.Y165Hc.493T>CSubstitution - Missense
DAZAP1ENSG00000071626ENST00000233078p.P258fs*>151c.770_771insCInsertion - Frameshift
TCF3ENSG00000071564ENST00000262965p.P650Tc.1948C>ASubstitution - Missense
HOXC11ENSG00000123388ENST00000546378p.P230Pc.690C>GSubstitution - coding silent
HOXC8ENSG00000037965ENST00000040584p.G41Rc.121G>CSubstitution - Missense
MAPKAPK2ENSG00000162889ENST00000294981p.?c.280-5T>CUnknown
ENST00000338603p.F280Vc.838T>GSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366769p.K913Kc.2739A>GSubstitution - coding silent
DNAH14ENSG00000185842ENST00000366848p.R218Gc.652A>GSubstitution - Missense
SLITRK6ENSG00000184564ENST00000400286p.Q724*c.2170C>TSubstitution - Nonsense
ITGA1ENSG00000213949ENST00000282588p.S760Sc.2280C>TSubstitution - coding silent
PCDHAC1ENSG00000248383ENST00000253807p.S346Lc.1037C>TSubstitution - Missense
CHPT1ENSG00000111666ENST00000229266p.F162fs*23c.478delTDeletion - Frameshift
ISYNA1ENSG00000105655ENST00000338128p.P167Pc.501G>ASubstitution - coding silent
ROBO1ENSG00000169855ENST00000464233p.F755fs*28c.2265delTDeletion - Frameshift
PDE4AENSG00000065989ENST00000352831p.R696Mc.2087G>TSubstitution - Missense
PDE4AENSG00000065989ENST00000293683p.R670Mc.2009G>TSubstitution - Missense
TSPEARENSG00000175894ENST00000323084p.R67fs*3c.199delCDeletion - Frameshift
HJURPENSG00000123485ENST00000411486p.R617*c.1849C>TSubstitution - Nonsense
ENST00000279593p.R903Hc.2708G>ASubstitution - Missense
PCDH7ENSG00000169851ENST00000361762p.T890Tc.2670G>TSubstitution - coding silent
PCDHA4ENSG00000204967ENST00000378125p.R428Wc.1282C>TSubstitution - Missense
PAPSS1ENSG00000138801ENST00000265174p.R386Qc.1157G>ASubstitution - Missense
KCNH2ENSG00000055118ENST00000330883p.L61Mc.181C>ASubstitution - Missense
EXOC4ENSG00000131558ENST00000393161p.N259Hc.775A>CSubstitution - Missense
ENST00000257665_v70p.S1024Sc.3072C>TSubstitution - coding silent
KLHL13ENSG00000003096ENST00000539496p.R286Lc.857G>TSubstitution - Missense
PHKA1ENSG00000067177ENST00000373539p.S273Gc.817A>GSubstitution - Missense
DOPEY1ENSG00000083097ENST00000237163p.Q49Qc.147A>GSubstitution - coding silent
ZFP37ENSG00000136866ENST00000553380p.H582Hc.1746T>CSubstitution - coding silent
CLEC10AENSG00000132514ENST00000576617p.?c.440-5A>GUnknown
ZNF687ENSG00000143373ENST00000324048p.P192Lc.575C>TSubstitution - Missense
JMJD7-PLA2G4BENSG00000168970ENST00000382448p.?c.1399-9G>AUnknown
CCDC88BENSG00000168071ENST00000356786p.R907Qc.2720G>ASubstitution - Missense
PFKFB3ENSG00000170525ENST00000379775p.R220fs*104c.653_654insGInsertion - Frameshift
PCNXL3ENSG00000197136ENST00000355703p.K364fs*22c.1084delCDeletion - Frameshift
DCLK1ENSG00000133083ENST00000255448p.S696Sc.2088A>GSubstitution - coding silent
KDM5AENSG00000073614ENST00000399788p.P1041Pc.3123G>ASubstitution - coding silent
GXYLT1ENSG00000151233ENST00000280876p.K392Kc.1176A>GSubstitution - coding silent
TRIM8ENSG00000171206ENST00000302424p.R248Rc.744G>ASubstitution - coding silent
C10orf118ENSG00000165813ENST00000369287p.E807Dc.2421A>CSubstitution - Missense
MRPL11ENSG00000174547ENST00000329819p.R159Cc.475C>TSubstitution - Missense
WNK1ENSG00000060237ENST00000537687p.T804Ac.2410A>GSubstitution - Missense
OR10A2ENSG00000170790ENST00000307322p.M46Tc.137T>CSubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.A119Ac.357C>TSubstitution - coding silent
CKBENSG00000166165ENST00000348956p.L10Pc.29T>CSubstitution - Missense
ACER3ENSG00000078124ENST00000532485p.P257Qc.770C>ASubstitution - Missense
GALNT9ENSG00000182870ENST00000535228p.M1Ic.3G>ASubstitution - Missense
IDH3AENSG00000166411ENST00000299518p.M318Tc.953T>CSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.E2270Kc.6808G>ASubstitution - Missense
ZNF891ENSG00000214029ENST00000397313p.N147Sc.440A>GSubstitution - Missense
PPFIA2ENSG00000139220ENST00000549396p.T870Sc.2608A>TSubstitution - Missense
TROAPENSG00000135451ENST00000257909p.S498Sc.1494A>GSubstitution - coding silent
NACAENSG00000196531ENST00000550952p.A764Vc.2291C>TSubstitution - Missense
OR6K2ENSG00000196171ENST00000359610p.Y122Cc.365A>GSubstitution - Missense
NAV3ENSG00000067798ENST00000397909p.S2095Pc.6283T>CSubstitution - Missense
PRDM11ENSG00000019485ENST00000263765p.?c.844+8C>TUnknown
KIRREL3ENSG00000149571ENST00000525144p.?c.1354-6G>CUnknown
ENST00000356737_v68p.M24Tc.71T>CSubstitution - Missense
KCNMA1ENSG00000156113ENST00000404857p.A804Vc.2411C>TSubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.T4335Tc.13005G>TSubstitution - coding silent
DCAF12L1ENSG00000198889ENST00000371126p.Q104Rc.311A>GSubstitution - Missense
RP1ENSG00000104237ENST00000220676p.A1176Sc.3526G>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T3909Mc.11726C>TSubstitution - Missense
HAGHLENSG00000103253ENST00000389703p.V45fs*3c.129delGDeletion - Frameshift
ATMINENSG00000166454ENST00000299575p.I455Vc.1363A>GSubstitution - Missense
FAM76AENSG00000009780ENST00000373954p.K140Rc.419A>GSubstitution - Missense
TLE3ENSG00000140332ENST00000558939p.I600Vc.1798A>GSubstitution - Missense
COL4A1ENSG00000187498ENST00000375820p.P588fs*214c.1763delCDeletion - Frameshift
GRTP1ENSG00000139835ENST00000375430p.H333Yc.997C>TSubstitution - Missense
MEIS2ENSG00000134138ENST00000561208p.M398Vc.1192A>GSubstitution - Missense
MEIS2ENSG00000134138ENST00000561208p.G25Rc.73G>ASubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.V2004Ic.6010G>ASubstitution - Missense
TTC39AENSG00000085831ENST00000371750p.M70Tc.209T>CSubstitution - Missense
L2HGDHENSG00000087299ENST00000267436p.L5Rc.14T>GSubstitution - Missense
MMACHCENSG00000132763ENST00000401061p.P280Pc.840T>CSubstitution - coding silent
TRIM49CENSG00000204449ENST00000448984p.N436Dc.1306A>GSubstitution - Missense
CHD4ENSG00000111642ENST00000357008p.G1038Dc.3113G>ASubstitution - Missense
PRG4ENSG00000116690ENST00000445192p.T930Ac.2788A>GSubstitution - Missense
UMODENSG00000169344ENST00000424589p.E314fs*22c.939delCDeletion - Frameshift
KMT2AENSG00000118058ENST00000534358p.I3841Vc.11521A>GSubstitution - Missense
UBE2IENSG00000103275ENST00000355803p.E143Vc.428A>TSubstitution - Missense
GSPT1ENSG00000103342ENST00000434724p.G173fs*15c.515_516insGInsertion - Frameshift
CACNA1HENSG00000196557ENST00000358590p.P2191fs*20c.6568delCDeletion - Frameshift
FBXO6ENSG00000116663ENST00000376753p.P71Pc.213C>TSubstitution - coding silent
SEC14L2ENSG00000100003ENST00000312932p.K196fs*8c.581-1_581insCUnknown
ENST00000398685p.P496Pc.1488T>CSubstitution - coding silent
PIEZO1ENSG00000103335ENST00000301015p.D1997Dc.5991C>TSubstitution - coding silent
CYP20A1ENSG00000119004ENST00000356079p.Q111Rc.332A>GSubstitution - Missense
ANO7ENSG00000146205ENST00000402430p.D834Dc.2502C>TSubstitution - coding silent
ENST00000544929p.A129Vc.386C>TSubstitution - Missense
OSBPL6ENSG00000079156ENST00000392505p.E648Ec.1944G>ASubstitution - coding silent
JPH1ENSG00000104369ENST00000342232p.R156Rc.468C>TSubstitution - coding silent
NOP56ENSG00000101361ENST00000329276p.Q488Rc.1463A>GSubstitution - Missense
PLECENSG00000178209ENST00000345136p.R4128Wc.12382C>TSubstitution - Missense
PEX1ENSG00000127980ENST00000248633p.S1075Fc.3224C>TSubstitution - Missense
CPSF1ENSG00000071894ENST00000349769p.?c.3745-8G>AUnknown
ENST00000366809p.Y1359Hc.4075T>CSubstitution - Missense
USP19ENSG00000172046ENST00000434032p.I743Vc.2227A>GSubstitution - Missense
ERBB2ENSG00000141736ENST00000269571p.L720Pc.2159T>CSubstitution - Missense
RWDD2BENSG00000156253ENST00000493196p.M292Tc.875T>CSubstitution - Missense
HTTENSG00000197386ENST00000355072p.P499Pc.1497A>GSubstitution - coding silent
ANKS3ENSG00000168096ENST00000304283p.V93fs*1c.277delGDeletion - Frameshift
ROBO1ENSG00000169855ENST00000464233p.R1293Wc.3877C>TSubstitution - Missense
RIPK4ENSG00000183421ENST00000332512p.N461Nc.1383T>CSubstitution - coding silent
SMARCA4ENSG00000127616ENST00000429416p.L728Lc.2184G>ASubstitution - coding silent
ELP2ENSG00000134759ENST00000358232p.K692fs*32c.2071delADeletion - Frameshift
MOCOSENSG00000075643ENST00000261326p.R614Qc.1841G>ASubstitution - Missense
NM_001005372.1p.R218Rc.652C>ASubstitution - coding silent
PTDSS1ENSG00000156471ENST00000517309p.Q314Rc.941A>GSubstitution - Missense
PIWIL2ENSG00000197181ENST00000356766p.W771Rc.2311T>CSubstitution - Missense
FLNBENSG00000136068ENST00000295956p.A2038Ac.6114G>ASubstitution - coding silent
CPA1ENSG00000091704ENST00000011292p.Y119Yc.357C>TSubstitution - coding silent
TNPO3ENSG00000064419ENST00000265388p.P866Pc.2598G>ASubstitution - coding silent
ZNFX1ENSG00000124201ENST00000396105p.C773Cc.2319C>TSubstitution - coding silent
KCNA7ENSG00000104848ENST00000221444p.A52Tc.154G>ASubstitution - Missense
ZNF91ENSG00000167232ENST00000300619p.P797Pc.2391C>ASubstitution - coding silent
CDC14BENSG00000081377ENST00000265659p.Q454Qc.1362G>ASubstitution - coding silent
DMWDENSG00000185800ENST00000270223p.I601Ic.1803C>TSubstitution - coding silent
UBR2ENSG00000024048ENST00000372899p.?c.3242+3_3242+11delaaaaaaaaaUnknown
MRPL2ENSG00000112651ENST00000388752p.P114Pc.342T>CSubstitution - coding silent
NM_001371.1p.A4296Dc.12887C>ASubstitution - Missense
MED20ENSG00000124641ENST00000265350p.P207Sc.619C>TSubstitution - Missense
TRHENSG00000170893ENST00000302649p.A192Tc.574G>ASubstitution - Missense
CAND2ENSG00000144712ENST00000456430p.D829Nc.2485G>ASubstitution - Missense
EPB41L5ENSG00000115109ENST00000263713p.S103fs*6c.303delADeletion - Frameshift
EPB41L5ENSG00000115109ENST00000443124p.S103fs*6c.303delADeletion - Frameshift
COL6A3ENSG00000163359ENST00000295550p.P1630Hc.4889C>ASubstitution - Missense
EPHA4ENSG00000116106ENST00000281821p.T121Mc.362C>TSubstitution - Missense
USP40ENSG00000085982ENST00000450966p.T713Tc.2139G>ASubstitution - coding silent
DMDENSG00000198947ENST00000378723p.Q200Qc.600A>GSubstitution - coding silent
SCML2ENSG00000102098ENST00000251900p.?c.163-3_163-2deltaUnknown
GRM3ENSG00000198822ENST00000361669p.Q306Hc.918G>TSubstitution - Missense
ARID1BENSG00000049618ENST00000275248p.?c.2666+4C>TUnknown
ADGBENSG00000118492ENST00000397944p.I647Vc.1939A>GSubstitution - Missense
BRAT1ENSG00000106009ENST00000340611p.?c.128-4A>GUnknown
BTNL9ENSG00000165810ENST00000327705p.P63Sc.187C>TSubstitution - Missense
CDH18ENSG00000145526ENST00000382275p.H123fs*10c.364_365insCInsertion - Frameshift
ARHGEF26ENSG00000114790ENST00000356448p.L810Lc.2428C>TSubstitution - coding silent
PIGQENSG00000007541ENST00000026218p.V165Ic.493G>ASubstitution - Missense
RNF144AENSG00000151692ENST00000320892p.A180Vc.539C>TSubstitution - Missense
APCENSG00000134982ENST00000457016p.Y159Cc.476A>GSubstitution - Missense
PDCD6IPENSG00000170248ENST00000307296p.A256Ac.768T>CSubstitution - coding silent
KDM5CENSG00000126012ENST00000375401p.L1255Lc.3765G>ASubstitution - coding silent
PHF8ENSG00000172943ENST00000338154p.P908Hc.2723C>ASubstitution - Missense
CCDC22ENSG00000101997ENST00000376227p.S527Sc.1581C>TSubstitution - coding silent
HUWE1ENSG00000086758ENST00000342160p.M375Ic.1125G>TSubstitution - Missense
PAGE1ENSG00000068985ENST00000376150p.D62Dc.186T>CSubstitution - coding silent
C2orf16ENSG00000221843ENST00000408964p.R1485Rc.4453A>CSubstitution - coding silent
CYP2U1ENSG00000155016ENST00000332884p.Y434Yc.1302T>CSubstitution - coding silent
GSTCDENSG00000138780ENST00000515279p.D66Gc.197A>GSubstitution - Missense
OGDHENSG00000105953ENST00000443864p.A379Vc.1136C>TSubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.K2317Kc.6951A>GSubstitution - coding silent
ENST00000450194p.?c.3841-1G>TUnknown
ENST00000288841p.P1220Lc.3659C>TSubstitution - Missense
PNMA5ENSG00000198883ENST00000361887p.R199Cc.595C>TSubstitution - Missense
MED23ENSG00000112282ENST00000354577p.T1053Sc.3158C>GSubstitution - Missense
C17orf66ENSG00000172653ENST00000311880p.K198Ec.592A>GSubstitution - Missense
SGK1ENSG00000118515ENST00000367857p.E173Dc.519G>TSubstitution - Missense
GRXCR2ENSG00000204928ENST00000377976p.Y27Sc.80A>CSubstitution - Missense
TTF1ENSG00000125482ENST00000334270p.V123Dc.368T>ASubstitution - Missense
OBP2AENSG00000122136ENST00000340780p.P196fs*>33c.583delCDeletion - Frameshift
PPM1BENSG00000138032ENST00000282412p.T448Tc.1344A>GSubstitution - coding silent
KRT16ENSG00000186832ENST00000301653p.K118Nc.354G>TSubstitution - Missense
ENST00000315286_v68p.R166Qc.497G>ASubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.G1098fs*6c.3289delGDeletion - Frameshift
CSMD3ENSG00000164796ENST00000343508p.T902Tc.2706T>CSubstitution - coding silent
COL15A1ENSG00000204291ENST00000375001p.?c.2079+3_2079+15delaaaaaaaaaaaaaUnknown
TMEFF1ENSG00000241697ENST00000374879p.S208Cc.622A>TSubstitution - Missense
ZC3H7BENSG00000100403ENST00000352645p.?c.88-2A>CUnknown
RTTNENSG00000176225ENST00000255674p.S1429Sc.4287T>CSubstitution - coding silent
PRDM13ENSG00000112238ENST00000369214p.P447Lc.1340C>TSubstitution - Missense
MDGA1ENSG00000112139ENST00000297153p.T797fs*3c.2388delCDeletion - Frameshift
ZNF35ENSG00000169981ENST00000396056p.K134fs*19c.398delADeletion - Frameshift
ZNF100ENSG00000197020ENST00000305570p.K376*c.1126A>TSubstitution - Nonsense
ITM2AENSG00000078596ENST00000373298p.C53Cc.159T>CSubstitution - coding silent
TBX22ENSG00000122145ENST00000373296p.C376Rc.1126T>CSubstitution - Missense
DPP7ENSG00000176978ENST00000371579p.A270Vc.809C>TSubstitution - Missense
A4GNTENSG00000118017ENST00000236709p.V114Ac.341T>CSubstitution - Missense
WHSC1ENSG00000109685ENST00000382888p.E692fs*>23c.2072_2073insCInsertion - Frameshift
PSMD6ENSG00000163636ENST00000394431p.Q146Rc.437A>GSubstitution - Missense
ZNF841ENSG00000197608ENST00000389534p.Q626Rc.1877A>GSubstitution - Missense
HEATR5AENSG00000129493ENST00000404677p.?c.2868+7A>GUnknown
ENST00000256343_v70p.S272Sc.816A>GSubstitution - coding silent
EIF4G3ENSG00000075151ENST00000356916p.A561Ac.1683T>CSubstitution - coding silent
KLHL12ENSG00000117153ENST00000435533p.E202Ec.606A>GSubstitution - coding silent
CABLES1ENSG00000134508ENST00000420687p.H355Hc.1065C>TSubstitution - coding silent
OTOAENSG00000155719ENST00000286149p.T274Mc.821C>TSubstitution - Missense
NCS1ENSG00000107130ENST00000372398p.V149Ac.446T>CSubstitution - Missense
FAM184BENSG00000047662ENST00000265018p.V869Mc.2605G>ASubstitution - Missense
ENST00000388903p.N2050Dc.6148A>GSubstitution - Missense
IL6STENSG00000134352ENST00000381298p.V776Ac.2327T>CSubstitution - Missense
ENST00000251268_v61p.P1087Sc.3259C>TSubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.T272Mc.815C>TSubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.T272Mc.815C>TSubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.A1802fs*23c.5404delGDeletion - Frameshift
TRAF7ENSG00000131653ENST00000326181p.?c.81+8T>CUnknown
ZNF335ENSG00000198026ENST00000322927p.R711Cc.2131C>TSubstitution - Missense
TANC1ENSG00000115183ENST00000263635p.M437Vc.1309A>GSubstitution - Missense
SARS2ENSG00000104835ENST00000221431p.K78Ec.232A>GSubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
KIF5BENSG00000170759ENST00000302418p.D665Yc.1993G>TSubstitution - Missense
HRNRENSG00000197915ENST00000368801p.R843Qc.2528G>ASubstitution - Missense
DIP2CENSG00000151240ENST00000280886p.P1036fs*3c.3107delCDeletion - Frameshift
CEP170BENSG00000099814ENST00000556508p.A1268Vc.3803C>TSubstitution - Missense
RPGRIP1ENSG00000092200ENST00000400017p.A513Tc.1537G>ASubstitution - Missense
ESRP1ENSG00000104413ENST00000433389p.N512fs*2c.1528delADeletion - Frameshift
FOXP4ENSG00000137166ENST00000373060p.L272fs*95c.808delCDeletion - Frameshift
FNDC1ENSG00000164694ENST00000297267p.P579Pc.1737C>TSubstitution - coding silent
ZNF606ENSG00000166704ENST00000341164p.L791Pc.2372T>CSubstitution - Missense
WDR81ENSG00000167716ENST00000409644p.H1752fs*33c.5249delCDeletion - Frameshift
ADAM21ENSG00000139985ENST00000267499p.L684fs*3c.2045delTDeletion - Frameshift
ABTB1ENSG00000114626ENST00000232744p.P318fs*36c.948delCDeletion - Frameshift
ROBO1ENSG00000169855ENST00000495273p.F719fs*28c.2157delTDeletion - Frameshift
MACF1ENSG00000127603ENST00000361689p.R4236Qc.12707G>ASubstitution - Missense
NYAP2ENSG00000144460ENST00000272907p.D208Nc.622G>ASubstitution - Missense
PCDHB10ENSG00000120324ENST00000239446p.G622Gc.1866G>CSubstitution - coding silent
ENST00000534231p.R226Cc.676C>TSubstitution - Missense
NOTCH1ENSG00000148400ENST00000277541p.P2438Lc.7313C>TSubstitution - Missense
DAPK1ENSG00000196730ENST00000469640p.?c.423+4C>TUnknown
PRICKLE3ENSG00000012211ENST00000376310p.L112Rc.335T>GSubstitution - Missense
SLC22A16ENSG00000004809ENST00000439654p.V434Ac.1301T>CSubstitution - Missense
ADAM19ENSG00000135074ENST00000394020p.?c.2247-8G>AUnknown
KIAA1731ENSG00000166004ENST00000411936p.?c.5597-10T>CUnknown
SLITRK5ENSG00000165300ENST00000400028p.D361Nc.1081G>ASubstitution - Missense
SH2D6ENSG00000152292ENST00000389938p.G91Rc.271G>ASubstitution - Missense
MAP2K7ENSG00000076984ENST00000545011p.A189Vc.566C>TSubstitution - Missense
SYTL5ENSG00000147041ENST00000456733p.K655fs*21c.1959delADeletion - Frameshift
ITPRIPL2ENSG00000205730ENST00000381440p.Y163Hc.487T>CSubstitution - Missense
NUBP2ENSG00000095906ENST00000262302p.T266Ac.796A>GSubstitution - Missense
CIITAENSG00000179583ENST00000324288p.S252Rc.754A>CSubstitution - Missense
RHBDF1ENSG00000007384ENST00000262316p.E457delEc.1369_1371delGAGDeletion - In frame
SU_CRIKp.E1980Dc.5940G>TSubstitution - Missense
FOXO6ENSG00000204060ENST00000372591p.Q461Rc.1382A>GSubstitution - Missense
PXNENSG00000089159ENST00000424649p.P22Hc.65C>ASubstitution - Missense
SUDS3ENSG00000111707ENST00000543473p.?c.360+10A>GUnknown
TMEM120BENSG00000188735ENST00000342607p.?c.366-7G>AUnknown
TMEM120BENSG00000188735ENST00000449592p.?c.366-7G>AUnknown
TBX19ENSG00000143178ENST00000367821p.P322Pc.966T>CSubstitution - coding silent
POGKENSG00000143157ENST00000367875p.M431Vc.1291A>GSubstitution - Missense
SLC22A24ENSG00000197658ENST00000326192p.T113Tc.339G>ASubstitution - coding silent
GOLGA8FENSG00000153684ENST00000532622p.V319Ac.956T>CSubstitution - Missense
NUF2ENSG00000143228ENST00000367900p.H129Rc.386A>GSubstitution - Missense
BRCA2ENSG00000139618ENST00000544455p.T1505Ic.4514C>TSubstitution - Missense
KIAA1522ENSG00000162522ENST00000373480p.R187Wc.559C>TSubstitution - Missense
HIF1ANENSG00000166135ENST00000299163p.E262Kc.784G>ASubstitution - Missense
PKD2L1ENSG00000107593ENST00000318222p.L272Pc.815T>CSubstitution - Missense
CHUKENSG00000213341ENST00000370397p.M507fs*17c.1513_1514insAInsertion - Frameshift
A2ML1ENSG00000166535ENST00000299698p.L1134Lc.3402C>GSubstitution - coding silent
TTC40ENSG00000171811ENST00000263170p.P566fs*5c.1697delCDeletion - Frameshift
MYH7ENSG00000092054ENST00000355349p.Y194Hc.580T>CSubstitution - Missense
HAUS4ENSG00000092036ENST00000206474p.L202Lc.606C>TSubstitution - coding silent
CHFRENSG00000072609ENST00000315585p.R355Qc.1064G>ASubstitution - Missense
NM_014903.3p.S2073Pc.6217T>CSubstitution - Missense
ENST00000349637p.A2281Gc.6842C>GSubstitution - Missense
UBQLN4ENSG00000160803ENST00000368309p.S336*c.1007C>ASubstitution - Nonsense
KRT4ENSG00000170477ENST00000293774p.G145Cc.433G>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000423507p.R376Qc.1127G>ASubstitution - Missense
CDC37L1ENSG00000106993ENST00000381854p.Q224*c.670C>TSubstitution - Nonsense
MROH8ENSG00000101353ENST00000343811p.?c.1865+9T>CUnknown
TRPC4APENSG00000100991ENST00000252015p.L556Lc.1666C>TSubstitution - coding silent
ZNF729ENSG00000196350ENST00000357491p.K346fs*23c.1036delADeletion - Frameshift
ITGB4ENSG00000132470ENST00000339591p.T393Ac.1177A>GSubstitution - Missense
FLIIENSG00000177731ENST00000327031p.L230Rc.689T>GSubstitution - Missense
MED16ENSG00000175221ENST00000325464p.R42Qc.125G>ASubstitution - Missense
HCCSENSG00000004961ENST00000321143p.S253Lc.758C>TSubstitution - Missense
ACSBG2ENSG00000130377ENST00000252669p.L497Lc.1489C>TSubstitution - coding silent
NKRFENSG00000186416ENST00000542113p.P32Lc.95C>TSubstitution - Missense
DYTNENSG00000232125ENST00000452335p.K331fs*3c.993delADeletion - Frameshift
NM_003319p.G4257Cc.12769G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.S1010Sc.3030C>TSubstitution - coding silent
INO80DENSG00000114933ENST00000403263p.K533Nc.1599A>CSubstitution - Missense
ENST00000331986p.K70Rc.209A>GSubstitution - Missense
MYBBP1AENSG00000132382ENST00000254718p.K1289Nc.3867A>CSubstitution - Missense
EFCAB13ENSG00000178852ENST00000331493p.E83Gc.248A>GSubstitution - Missense
FMN1ENSG00000248905ENST00000320930p.A416fs*2c.1246delGDeletion - Frameshift
MAP3K6ENSG00000142733ENST00000493901p.I748Tc.2243T>CSubstitution - Missense
EIF2AK4ENSG00000128829ENST00000263791p.S770fs*21c.2305delADeletion - Frameshift
TRIP4ENSG00000103671ENST00000261884p.R168Hc.503G>ASubstitution - Missense
LRRK1ENSG00000154237ENST00000284395p.L513Mc.1537C>ASubstitution - Missense
GON4LENSG00000116580ENST00000361040p.N1240Tc.3719A>CSubstitution - Missense
PLEKHA6ENSG00000143850ENST00000272203p.E623Gc.1868A>GSubstitution - Missense
RFX7ENSG00000181827ENST00000423270p.S110Tc.328T>ASubstitution - Missense
RFX7ENSG00000181827ENST00000317318p.S13Tc.37T>ASubstitution - Missense
DUSP16ENSG00000111266ENST00000228862p.K397Ec.1189A>GSubstitution - Missense
USP5ENSG00000111667ENST00000229268p.G635Gc.1905C>TSubstitution - coding silent
ZW10ENSG00000086827ENST00000200135p.L590fs*44c.1769delTDeletion - Frameshift
RCC2ENSG00000179051ENST00000375433p.F407fs*72c.1215delGDeletion - Frameshift
UBR4ENSG00000127481ENST00000375254p.T2534Ic.7601C>TSubstitution - Missense
COL25A1ENSG00000188517ENST00000399126p.N293Nc.879C>TSubstitution - coding silent
GAKENSG00000178950ENST00000314167p.P835Pc.2505G>ASubstitution - coding silent
EFHBENSG00000163576ENST00000295824p.D542Dc.1626T>CSubstitution - coding silent
LAMA5ENSG00000130702ENST00000252999p.V803Mc.2407G>ASubstitution - Missense
CCDC157ENSG00000187860ENST00000338306p.P588Tc.1762C>ASubstitution - Missense
ZNF175ENSG00000105497ENST00000262259p.M317Vc.949A>GSubstitution - Missense
CA5AENSG00000174990ENST00000309893p.A149Tc.445G>ASubstitution - Missense
ZNF841ENSG00000197608ENST00000389534p.Y793Cc.2378A>GSubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.R14fs*31c.40delADeletion - Frameshift
FOXC2ENSG00000176692ENST00000320354p.H199fs*2c.590delCDeletion - Frameshift
GPR155ENSG00000163328ENST00000392551p.?c.1561-1G>AUnknown
SP3ENSG00000172845ENST00000310015p.A502Ac.1506A>CSubstitution - coding silent
LACTB2ENSG00000147592ENST00000522447p.D88Gc.263A>GSubstitution - Missense
MSR1ENSG00000038945ENST00000262101p.G321*c.961G>TSubstitution - Nonsense
PREX2ENSG00000046889ENST00000288368p.Y1190Hc.3568T>CSubstitution - Missense
PLECENSG00000178209ENST00000345136p.R596Qc.1787G>ASubstitution - Missense
RRP9ENSG00000114767ENST00000232888p.V202Ic.604G>ASubstitution - Missense
PARP3ENSG00000041880ENST00000417220p.T454Mc.1361C>TSubstitution - Missense
BHLHE40ENSG00000134107ENST00000256495p.M338Vc.1012A>GSubstitution - Missense
XM_496642.1p.I730Vc.2188A>GSubstitution - Missense
KIF13AENSG00000137177ENST00000259711p.A364Vc.1091C>TSubstitution - Missense
TECENSG00000135605ENST00000381501p.T433Ac.1297A>GSubstitution - Missense
SCAF4ENSG00000156304ENST00000286835p.P900Pc.2700T>CSubstitution - coding silent
ZNF423ENSG00000102935ENST00000561648p.V335Mc.1003G>ASubstitution - Missense
CNEP1R1ENSG00000205423ENST00000458059p.H140Yc.418C>TSubstitution - Missense
ANKRD36CENSG00000174501ENST00000295246p.K332fs*17c.995delADeletion - Frameshift
SMARCA4ENSG00000127616ENST00000358026p.P647Lc.1940C>TSubstitution - Missense
RNF213ENSG00000173821ENST00000456466p.E201Kc.601G>ASubstitution - Missense
NOL11ENSG00000130935ENST00000253247p.S530Gc.1588A>GSubstitution - Missense
CDH17ENSG00000079112ENST00000027335p.A788Tc.2362G>ASubstitution - Missense
SGSM2ENSG00000141258ENST00000268989p.L497Lc.1491G>TSubstitution - coding silent
ZNF395ENSG00000186918ENST00000344423p.S231fs*46c.690delCDeletion - Frameshift
CBX7ENSG00000100307ENST00000216133p.V182Ic.544G>ASubstitution - Missense
PDGFBENSG00000100311ENST00000331163p.V208Mc.622G>ASubstitution - Missense
DSTENSG00000151914ENST00000370769p.S4524Sc.13572A>GSubstitution - coding silent
NCKIPSDENSG00000213672ENST00000341520p.V712Ac.2135T>CSubstitution - Missense
SREK1ENSG00000153914ENST00000334121p.R433Tc.1298G>CSubstitution - Missense
ATP8B3ENSG00000130270ENST00000525591p.A871Vc.2612C>TSubstitution - Missense
SNAPC3ENSG00000164975ENST00000380821p.I181Tc.542T>CSubstitution - Missense
FLYWCH1ENSG00000059122ENST00000416288p.A307Tc.919G>ASubstitution - Missense
ITFG3ENSG00000167930ENST00000301678p.A9Tc.25G>ASubstitution - Missense
QPRTENSG00000103485ENST00000395384p.A88Ac.264C>TSubstitution - coding silent
SMPD4ENSG00000136699ENST00000409031p.?c.1406+10A>GUnknown
MAMSTRENSG00000176909ENST00000318083p.N97fs*2c.288delGDeletion - Frameshift
DNAH8ENSG00000124721ENST00000359357p.A4296Dc.12887C>ASubstitution - Missense
ENST00000319509_v65p.T724Nc.2171C>ASubstitution - Missense
G6PDENSG00000160211ENST00000393562p.I229Ic.687C>TSubstitution - coding silent
GPR126ENSG00000112414ENST00000367609p.N504fs*9c.1506delADeletion - Frameshift
KIAA1109ENSG00000138688ENST00000264501p.P3866Pc.11598T>CSubstitution - coding silent
DYSFENSG00000135636ENST00000410020p.D247fs*11c.737_740delCAGADeletion - Frameshift
CDH3ENSG00000062038ENST00000264012p.?c.997-4A>GUnknown
RRM2ENSG00000171848ENST00000304567p.C270fs*1c.808_809delTGDeletion - Frameshift
DLG4ENSG00000132535ENST00000302955p.S260Pc.778T>CSubstitution - Missense
MARCH7ENSG00000136536ENST00000259050p.?c.346+7A>TUnknown
SLC12A5ENSG00000124140ENST00000243964p.S932Sc.2796T>CSubstitution - coding silent
C4orf50ENSG00000181215ENST00000531445p.L581Ic.1741C>ASubstitution - Missense
IGLL5ENSG00000254709ENST00000526893p.L134Lc.400C>TSubstitution - coding silent
C19orf54ENSG00000188493ENST00000378313p.D218Nc.652G>ASubstitution - Missense
GLI3ENSG00000106571ENST00000395925p.G1133Rc.3397G>ASubstitution - Missense
UBLCP1ENSG00000164332ENST00000296786p.L116Pc.347T>CSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
DDX19AENSG00000168872ENST00000302243p.E242Gc.725A>GSubstitution - Missense
OGDHENSG00000105953ENST00000222673p.A379Vc.1136C>TSubstitution - Missense
XM_499251.1p.?c.1240-1G>TUnknown
CXXC5ENSG00000171604ENST00000302517p.N274Sc.821A>GSubstitution - Missense
PASD1ENSG00000166049ENST00000370357p.L655Mc.1963T>ASubstitution - Missense
ENST00000289630p.N697Nc.2091C>TSubstitution - coding silent
PCDHA9ENSG00000204961ENST00000378122p.R415Sc.1243C>ASubstitution - Missense
MYO19ENSG00000141140ENST00000431794p.W263Cc.789G>TSubstitution - Missense
OR3A1ENSG00000180090ENST00000323404p.M139Vc.415A>GSubstitution - Missense
TAAR1ENSG00000146399ENST00000275216p.I323Nc.968T>ASubstitution - Missense
DPF1ENSG00000011332ENST00000355526p.C242Yc.725G>ASubstitution - Missense
NR3C1ENSG00000113580ENST00000231509p.L773fs*>7c.2316_2317insAInsertion - Frameshift
COL5A1ENSG00000130635ENST00000371817p.G853Gc.2559T>CSubstitution - coding silent
OLFM1ENSG00000130558ENST00000252854p.T404Ac.1210A>GSubstitution - Missense
BRCA1ENSG00000012048ENST00000357654p.G401Ec.1202G>ASubstitution - Missense
IARSENSG00000196305ENST00000375643p.S1049Sc.3147G>ASubstitution - coding silent
GALMENSG00000143891ENST00000272252p.A42Tc.124G>ASubstitution - Missense
CCDC43ENSG00000180329ENST00000315286p.R166Qc.497G>ASubstitution - Missense
KIAA0368ENSG00000136813ENST00000259335p.R800Hc.2399G>ASubstitution - Missense
CAGE1ENSG00000164304ENST00000338150p.K380fs*10c.1139delADeletion - Frameshift
TRPS1ENSG00000104447ENST00000395715p.S502Gc.1504A>GSubstitution - Missense
GRM3ENSG00000198822ENST00000394720p.Q304Hc.912G>TSubstitution - Missense
PLEKHA8ENSG00000106086ENST00000396259p.P351Ac.1051C>GSubstitution - Missense
ENST00000314720_v70p.V364Vc.1092A>GSubstitution - coding silent
C8orf34ENSG00000165084ENST00000523686p.S105Pc.313T>CSubstitution - Missense
ENST00000372155p.E565Gc.1694A>GSubstitution - Missense
ENST00000448712p.R832Wc.2494C>TSubstitution - Missense
CECR2ENSG00000099954ENST00000342247p.P127Lc.380C>TSubstitution - Missense
DAPP1ENSG00000070190ENST00000512369p.?c.687-6T>CUnknown
SLC16A1ENSG00000155380ENST00000433570p.P14fs*10c.41delCDeletion - Frameshift
MAST4ENSG00000069020ENST00000261569p.F133delFc.396_398delCTTDeletion - In frame
MEX3DENSG00000181588ENST00000388824p.D347Gc.1040A>GSubstitution - Missense
KLK11ENSG00000167757ENST00000391804p.Q217Rc.650A>GSubstitution - Missense
TOMM40ENSG00000130204ENST00000592434p.F314Sc.941T>CSubstitution - Missense
OSBPL6ENSG00000079156ENST00000315022p.E627Ec.1881G>ASubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.H4474Qc.13422C>GSubstitution - Missense
C1orf110ENSG00000185860ENST00000367911p.?c.175+4A>TUnknown
CACNA1EENSG00000198216ENST00000367567p.A94Tc.280G>ASubstitution - Missense
EP400ENSG00000183495ENST00000333577p.T511Tc.1533A>GSubstitution - coding silent
ENST00000326910p.V204Ac.611T>CSubstitution - Missense
SSRP1ENSG00000149136ENST00000278412p.R598Hc.1793G>ASubstitution - Missense
CBWD1ENSG00000172785ENST00000356521p.N363Ic.1088A>TSubstitution - Missense
TRAPPC9ENSG00000167632ENST00000389328p.Y204Yc.612C>TSubstitution - coding silent
ECE2ENSG00000145194ENST00000359140p.G565Gc.1695T>CSubstitution - coding silent
PHYHD1ENSG00000175287ENST00000372592p.Q60Qc.180G>ASubstitution - coding silent
ENST00000330241p.A36Gc.107C>GSubstitution - Missense
CDHR2ENSG00000074276ENST00000261944p.T262Tc.786G>TSubstitution - coding silent
MCM3ENSG00000112118ENST00000229854p.E72Ec.216G>ASubstitution - coding silent
PALB2ENSG00000083093ENST00000261584p.T733Ac.2197A>GSubstitution - Missense
ENST00000335106p.T539Ac.1615A>GSubstitution - Missense
ZNF335ENSG00000198026ENST00000322927p.I133Ic.399C>TSubstitution - coding silent
ZSWIM1ENSG00000168612ENST00000372523p.Q406Rc.1217A>GSubstitution - Missense


COSMIC

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