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C-33-A - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

4184 mutations reported
1260 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
ENST00000314395p.S41Sc.123G>ASubstitution - coding silent
DNAH6ENSG00000115423ENST00000237449p.S462Sc.1386G>ASubstitution - coding silent
XDHENSG00000158125ENST00000379416p.R900Rc.2700G>ASubstitution - coding silent
LRRTM3ENSG00000198739ENST00000361320p.R175*c.523C>TSubstitution - Nonsense
ARHGAP25ENSG00000163219ENST00000409220p.Q58*c.172C>TSubstitution - Nonsense
IBTKENSG00000005700ENST00000306270p.V289Ic.865G>ASubstitution - Missense
TRPV6ENSG00000165125ENST00000359396p.A566Tc.1696G>ASubstitution - Missense
ZNF777ENSG00000196453ENST00000247930p.A799Vc.2396C>TSubstitution - Missense
ENST00000388903p.R1573Cc.4717C>TSubstitution - Missense
TEX13BENSG00000170925ENST00000302917p.C236Cc.708C>TSubstitution - coding silent
PCGF3ENSG00000185619ENST00000362003p.L65fs*26c.189delCDeletion - Frameshift
LAMA1ENSG00000101680ENST00000389658p.S1153Sc.3459C>TSubstitution - coding silent
LYRM5ENSG00000205707ENST00000381356p.R35Hc.104G>ASubstitution - Missense
LNX2ENSG00000139517ENST00000316334p.R319Hc.956G>ASubstitution - Missense
PKD1L1ENSG00000158683ENST00000289672p.R558fs*10c.1672delADeletion - Frameshift
DDR2ENSG00000162733ENST00000367922p.R709*c.2125C>TSubstitution - Nonsense
NR4A2ENSG00000153234ENST00000339562p.Q109fs*3c.325_326insCInsertion - Frameshift
ACAT2ENSG00000120437ENST00000367048p.G161Sc.481G>ASubstitution - Missense
COL4A5ENSG00000188153ENST00000361603p.R1674Qc.5021G>ASubstitution - Missense
MYO10ENSG00000145555ENST00000274203p.S1226fs*25c.3674_3675insGInsertion - Frameshift
NM_024426.2p.R394Qc.1181G>ASubstitution - Missense
FBXW7ENSG00000109670ENST00000281708p.R465Hc.1394G>ASubstitution - Missense
NM_006218.1p.R88Qc.263G>ASubstitution - Missense
PTENENSG00000171862ENST00000371953p.R130*c.388C>TSubstitution - Nonsense
KCNT1ENSG00000107147ENST00000298480p.H373Hc.1119C>TSubstitution - coding silent
USP46ENSG00000109189ENST00000441222p.A300Vc.899C>TSubstitution - Missense
ACSL6ENSG00000164398ENST00000379264p.G498Gc.1494C>TSubstitution - coding silent
DDX46ENSG00000145833ENST00000354283p.R572Cc.1714C>TSubstitution - Missense
PCDHB13ENSG00000187372ENST00000341948p.T405Mc.1214C>TSubstitution - Missense
NDST1ENSG00000070614ENST00000261797p.T458Tc.1374G>ASubstitution - coding silent
ARG1ENSG00000118520ENST00000368087p.G305Rc.913G>ASubstitution - Missense
SGK1ENSG00000118515ENST00000367858p.K462delKc.1385_1387delAGADeletion - In frame
SGK1ENSG00000118515ENST00000367857p.K357delKc.1070_1072delAGADeletion - In frame
ARID1BENSG00000049618ENST00000275248p.D1722Dc.5166C>TSubstitution - coding silent
ZNF175ENSG00000105497ENST00000262259p.R579Qc.1736G>ASubstitution - Missense
ALMS1ENSG00000116127ENST00000264448p.V2117Ac.6350T>CSubstitution - Missense
DSN1ENSG00000149636ENST00000373750p.S109Lc.326C>TSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.R1893fs*35c.5677_5678delAGDeletion - Frameshift
CACNA1GENSG00000006283ENST00000359106p.G1500Gc.4500C>TSubstitution - coding silent
CACNA1GENSG00000006283ENST00000359106p.G1500Gc.4500C>TSubstitution - coding silent
AKAP8ENSG00000105127ENST00000269701p.Q491*c.1471C>TSubstitution - Nonsense
MADDENSG00000110514ENST00000311027p.V1591Ic.4771G>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.R1341Wc.4021C>TSubstitution - Missense
ING1ENSG00000153487ENST00000333219p.R102Hc.305G>ASubstitution - Missense
PDS5BENSG00000083642ENST00000315596p.R401Qc.1202G>ASubstitution - Missense
ARID4AENSG00000032219ENST00000355431p.R857Wc.2569C>TSubstitution - Missense
NFASCENSG00000163531ENST00000339876p.?c.3019+8G>AUnknown
ZBTB40ENSG00000184677ENST00000404138p.A1169Tc.3505G>ASubstitution - Missense
NM_139155.1p.R208Cc.622C>TSubstitution - Missense
TNKS2ENSG00000107854ENST00000371627p.R673Rc.2019C>TSubstitution - coding silent
CBWD1ENSG00000172785ENST00000356521p.?c.431-1G>CUnknown
TEX2ENSG00000136478ENST00000258991p.D782Nc.2344G>ASubstitution - Missense
SH2D2AENSG00000027869ENST00000368199p.A315Tc.943G>ASubstitution - Missense
TMEM194AENSG00000166881ENST00000379391p.Q175*c.523C>TSubstitution - Nonsense
THSD4ENSG00000187720ENST00000355327p.T185Mc.554C>TSubstitution - Missense
TSPEARENSG00000175894ENST00000323084p.A36Ac.108G>ASubstitution - coding silent
FCHSD1ENSG00000197948ENST00000435817p.R352*c.1054C>TSubstitution - Nonsense
TRAM1L1ENSG00000174599ENST00000310754p.G349Rc.1045G>ASubstitution - Missense
NIPBLENSG00000164190ENST00000282516p.A1308Ac.3924G>ASubstitution - coding silent
NIPBLENSG00000164190ENST00000448238p.A1308Ac.3924G>ASubstitution - coding silent
PKHD1L1ENSG00000205038ENST00000378402p.R3044*c.9130C>TSubstitution - Nonsense
OR9G1ENSG00000174914ENST00000312153p.I213Vc.637A>GSubstitution - Missense
STXBP5ENSG00000164506ENST00000367481p.R679Qc.2036G>ASubstitution - Missense
SNED1ENSG00000162804ENST00000310397p.R334Hc.1001G>ASubstitution - Missense
PPM1JENSG00000155367ENST00000309276p.R249Wc.745C>TSubstitution - Missense
PAX6ENSG00000007372ENST00000419022p.P389fs*7c.1166delCDeletion - Frameshift
MECRENSG00000116353ENST00000263702p.R278Hc.833G>ASubstitution - Missense
TLK2ENSG00000146872ENST00000346027p.R262Qc.785G>ASubstitution - Missense
TLK2ENSG00000146872ENST00000326270p.R262Qc.785G>ASubstitution - Missense
TBC1D32ENSG00000146350ENST00000398212p.K717fs*29c.2151delADeletion - Frameshift
SU_WNK2p.D1587fs*35c.4753delGDeletion - Frameshift
CEP76ENSG00000101624ENST00000262127p.T99fs*90c.295delADeletion - Frameshift
GLIS3ENSG00000107249ENST00000324333p.P190Pc.570G>ASubstitution - coding silent
WNT1ENSG00000125084ENST00000293549p.G169fs*30c.500delGDeletion - Frameshift
DOCK3ENSG00000088538ENST00000266037p.P1852fs*45c.5549delCDeletion - Frameshift
SLITRK4ENSG00000179542ENST00000381779p.R204Cc.610C>TSubstitution - Missense
NFASCENSG00000163531ENST00000360049p.P159fs*12c.471delCDeletion - Frameshift
NFASCENSG00000163531ENST00000339876p.P165fs*12c.489delCDeletion - Frameshift
ADRA1AENSG00000120907ENST00000354550p.P362Pc.1086G>ASubstitution - coding silent
ADRA1AENSG00000120907ENST00000380582p.P362Pc.1086G>ASubstitution - coding silent
ADRA1AENSG00000120907ENST00000380573p.P362Pc.1086G>ASubstitution - coding silent
NHSENSG00000188158ENST00000398097p.R324Hc.971G>ASubstitution - Missense
KCNB2ENSG00000182674ENST00000523207p.E146fs*3c.428delADeletion - Frameshift
HOXD1ENSG00000128645ENST00000331462p.G319Dc.956G>ASubstitution - Missense
C15orf39ENSG00000167173ENST00000360639p.V194fs*132c.575delGDeletion - Frameshift
GGTLC1ENSG00000149435ENST00000335694p.R65Cc.193C>TSubstitution - Missense
OSGEPL1ENSG00000128694ENST00000264151p.F12fs*12c.36delTDeletion - Frameshift
LSP1ENSG00000130592ENST00000405957p.E64Kc.190G>ASubstitution - Missense
FLNCENSG00000128591ENST00000325888p.R1426fs*12c.4270delGDeletion - Frameshift
NOS3ENSG00000164867ENST00000297494p.G440fs*64c.1313delGDeletion - Frameshift
CLDN5ENSG00000184113ENST00000406028p.G105fs*2c.314delGDeletion - Frameshift
IL2RBENSG00000100385ENST00000216223p.P489fs*43c.1466delCDeletion - Frameshift
DNAJB7ENSG00000172404ENST00000307221p.K295fs*>15c.884delADeletion - Frameshift
CPEB2ENSG00000137449ENST00000538197p.C989fs*31c.2959delTDeletion - Frameshift
LOXHD1ENSG00000167210ENST00000398722p.G58Gc.174C>TSubstitution - coding silent
MRI1ENSG00000037757ENST00000319545p.H283fs*24c.842delCDeletion - Frameshift
KLHL26ENSG00000167487ENST00000300976p.Q369fs*22c.1099delGDeletion - Frameshift
ZNF506ENSG00000081665ENST00000443905p.G116fs*5c.345delADeletion - Frameshift
ENST00000452401p.G128fs*32c.378delGDeletion - Frameshift
CEACAM19ENSG00000186567ENST00000358777p.T216Tc.648G>ASubstitution - coding silent
NLRP9ENSG00000185792ENST00000332836p.S7fs*9c.19delTDeletion - Frameshift
ENSG00000083842ENST00000196548p.R51Cc.151C>TSubstitution - Missense
CAMSAP3ENSG00000076826ENST00000446248p.R363fs*42c.1082delCDeletion - Frameshift
ENST00000446248_v68p.R363fs*42c.1082delCDeletion - Frameshift
CAMSAP3ENSG00000076826ENST00000160298p.R336fs*42c.1001delCDeletion - Frameshift
ALPK3ENSG00000136383ENST00000258888p.P279Pc.837G>ASubstitution - coding silent
ENST00000338282p.P1933fs*>6c.5798delCDeletion - Frameshift
FOPNLENSG00000133393ENST00000255759p.K18fs*4c.53delADeletion - Frameshift
SEPHS2ENSG00000179918ENST00000500504p.G405Gc.1215C>TSubstitution - coding silent
SUPT6HENSG00000109111ENST00000314616p.M124fs*70c.364delADeletion - Frameshift
NRXN2ENSG00000110076ENST00000377551p.A270fs*57c.808delGDeletion - Frameshift
GNSENSG00000135677ENST00000258145p.A233Vc.698C>TSubstitution - Missense
SV2AENSG00000159164ENST00000369146p.E138fs*39c.412delGDeletion - Frameshift
HTR6ENSG00000158748ENST00000289753p.R137Cc.409C>TSubstitution - Missense
TP53BP2ENSG00000143514ENST00000343537p.P92fs*6c.275delCDeletion - Frameshift
DOCK7ENSG00000116641ENST00000340370p.R231Hc.692G>ASubstitution - Missense
COL17A1ENSG00000065618ENST00000353479p.F1055Fc.3165C>TSubstitution - coding silent
ITIH5ENSG00000123243ENST00000397145p.R424*c.1270C>TSubstitution - Nonsense
STAMBPL1ENSG00000138134ENST00000371924p.K405fs*21c.1207delADeletion - Frameshift
JAM3ENSG00000166086ENST00000299106p.V294fs*10c.874delGDeletion - Frameshift
PHF21AENSG00000135365ENST00000418153p.P652fs*>29c.1955delCDeletion - Frameshift
ALDH1L1ENSG00000144908ENST00000393434p.E257Kc.769G>ASubstitution - Missense
AQRENSG00000021776ENST00000156471p.P1129Lc.3386C>TSubstitution - Missense
BRWD1ENSG00000185658ENST00000333229p.T1816fs*6c.5446_5447insAInsertion - Frameshift
EPB41L3ENSG00000082397ENST00000341928p.R425Hc.1274G>ASubstitution - Missense
SU_SPEGp.P321Pc.963G>ASubstitution - coding silent
OSBPL1AENSG00000141447ENST00000319481p.K894fs*>57c.2682delADeletion - Frameshift
XM_059776.6p.R56Cc.166C>TSubstitution - Missense
FKBP1CENSG00000198225ENST00000356170p.R19Cc.55C>TSubstitution - Missense
ITPR1ENSG00000150995ENST00000357086p.R2396Cc.7186C>TSubstitution - Missense
ITPR1ENSG00000150995ENST00000456211p.R2381Cc.7141C>TSubstitution - Missense
NM_015691.2p.R383Qc.1148G>ASubstitution - Missense
SVILENSG00000197321ENST00000355867p.M1863fs*44c.5586delGDeletion - Frameshift
MFRPENSG00000235718ENST00000555262p.H384fs*94c.1150delCDeletion - Frameshift
KCNC1ENSG00000129159ENST00000379472p.K457fs*20c.1363delADeletion - Frameshift
TMPOENSG00000120802ENST00000266732p.T99fs*12c.288delADeletion - Frameshift
CTCFENSG00000102974ENST00000264010p.T204fs*26c.603_604insAInsertion - Frameshift
HDAC4ENSG00000068024ENST00000345617p.M902fs*55c.2703delCDeletion - Frameshift
CYB5R4ENSG00000065615ENST00000369681p.E248fs*12c.734delADeletion - Frameshift
ANGPT4ENSG00000101280ENST00000381922p.Q190*c.568C>TSubstitution - Nonsense
STXBP5ENSG00000164506ENST00000321680p.R679Qc.2036G>ASubstitution - Missense
TLK2ENSG00000146872ENST00000346027p.R262Qc.785G>ASubstitution - Missense
SH2D2AENSG00000027869ENST00000392306p.A325Tc.973G>ASubstitution - Missense
STPG1ENSG00000001460ENST00000374409p.P332Pc.996G>ASubstitution - coding silent
SLC29A1ENSG00000112759ENST00000371708p.A60Tc.178G>ASubstitution - Missense
FLNCENSG00000128591ENST00000325888p.D1699Dc.5097C>TSubstitution - coding silent
NOS3ENSG00000164867ENST00000297494p.A520Vc.1559C>TSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.R1668Hc.5003G>ASubstitution - Missense
PLECENSG00000178209ENST00000322810p.H2996Hc.8988C>TSubstitution - coding silent
PLECENSG00000178209ENST00000436759p.H2886Hc.8658C>TSubstitution - coding silent
ENST00000357934p.G220Sc.658G>ASubstitution - Missense
ENST00000356067p.G198Sc.592G>ASubstitution - Missense
ENOX1ENSG00000120658ENST00000261488p.L450Lc.1348C>TSubstitution - coding silent
C15orf27ENSG00000169758ENST00000388942p.R527Mc.1580G>TSubstitution - Missense
ISLRENSG00000129009ENST00000395118p.L421Fc.1261C>TSubstitution - Missense
CLK3ENSG00000179335ENST00000395066p.K536delKc.1604_1606delAGADeletion - In frame
CLK3ENSG00000179335ENST00000345005p.K388delKc.1160_1162delAGADeletion - In frame
PAN2ENSG00000135473ENST00000440411p.V881Ic.2641G>ASubstitution - Missense
PAN2ENSG00000135473ENST00000440411p.A16Tc.46G>ASubstitution - Missense
NEUROD4ENSG00000123307ENST00000242994p.Q164fs*25c.484_485delCTDeletion - Frameshift
ENST00000326184p.M842fs*1c.2524delADeletion - Frameshift
OR10P1ENSG00000175398ENST00000309675p.S196Sc.588C>TSubstitution - coding silent
NTF3ENSG00000185652ENST00000331010p.Q172Hc.516G>TSubstitution - Missense
ITGA7ENSG00000135424ENST00000257879p.R542Cc.1624C>TSubstitution - Missense
DGKAENSG00000065357ENST00000331886p.G108Gc.324T>CSubstitution - coding silent
MYL6BENSG00000196465ENST00000207437p.E179Ac.536A>CSubstitution - Missense
MAP3K12ENSG00000139625ENST00000547035p.A626Tc.1876G>ASubstitution - Missense
ECE1ENSG00000117298ENST00000357071p.S89Sc.267C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.K573Qc.1717A>CSubstitution - Missense
KRT4ENSG00000170477ENST00000293774p.A53Tc.157G>ASubstitution - Missense
NEK2ENSG00000117650ENST00000366999p.V302Vc.906A>GSubstitution - coding silent
PTPN14ENSG00000152104ENST00000366956p.S720Sc.2160G>ASubstitution - coding silent
CR1ENSG00000203710ENST00000367049p.S2429Pc.7285T>CSubstitution - Missense
CR1ENSG00000203710ENST00000400960p.S1979Fc.5936C>TSubstitution - Missense
RUFY3ENSG00000018189ENST00000381006p.R448Cc.1342C>TSubstitution - Missense
WT1ENSG00000184937ENST00000379079p.R250Qc.749G>ASubstitution - Missense
IKBKEENSG00000143466ENST00000367120p.V311Ic.931G>ASubstitution - Missense
KIF14ENSG00000118193ENST00000367350p.D592Nc.1774G>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000404857p.R848Cc.2542C>TSubstitution - Missense
KCNMA1ENSG00000156113ENST00000406533p.R869Cc.2605C>TSubstitution - Missense
XM_371474.2p.V674Mc.2020G>ASubstitution - Missense
ABCB5ENSG00000004846ENST00000258738p.H481Yc.1441C>TSubstitution - Missense
DHODHENSG00000102967ENST00000219240p.T356Mc.1067C>TSubstitution - Missense
SMCHD1ENSG00000101596ENST00000320876p.R836Hc.2507G>ASubstitution - Missense
SMCHD1ENSG00000101596ENST00000261598p.R836Hc.2507G>ASubstitution - Missense
SMCHD1ENSG00000101596ENST00000261598p.R284Hc.851G>ASubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.L1133fs*4c.3398delTDeletion - Frameshift
DDX60ENSG00000137628ENST00000393743p.L1133fs*4c.3398delTDeletion - Frameshift
S100A10ENSG00000197747ENST00000368809p.N84Sc.251A>GSubstitution - Missense
CHSY3ENSG00000198108ENST00000305031p.K771fs*21c.2307delADeletion - Frameshift
CBLL1ENSG00000105879ENST00000440859p.K140fs*52c.413delADeletion - Frameshift
TP53ENSG00000141510ENST00000455263p.R273Cc.817C>TSubstitution - Missense
KCND3ENSG00000171385ENST00000315987p.A232Ac.696G>ASubstitution - coding silent
DDR2ENSG00000162733ENST00000367922p.R709*c.2125C>TSubstitution - Nonsense
GIT2ENSG00000139436ENST00000547815p.V141Mc.421G>ASubstitution - Missense
SGK1ENSG00000118515ENST00000413996p.K381delKc.1142_1144delAGADeletion - In frame
ARID1BENSG00000049618ENST00000346085p.D1740Dc.5220C>TSubstitution - coding silent
PLECENSG00000178209ENST00000345136p.H2859Hc.8577C>TSubstitution - coding silent
PLECENSG00000178209ENST00000354958p.H2837Hc.8511C>TSubstitution - coding silent
PIK3C2AENSG00000011405ENST00000265970p.T1674Tc.5022G>ASubstitution - coding silent
SGOL2ENSG00000163535ENST00000357799p.K409Kc.1227G>ASubstitution - coding silent
SLC7A4ENSG00000099960ENST00000382932p.H449Hc.1347C>TSubstitution - coding silent
TRPC3ENSG00000138741ENST00000379645p.R381Hc.1142G>ASubstitution - Missense
ZRSR2ENSG00000169249ENST00000307771p.A95Vc.284C>TSubstitution - Missense
SLC9A7ENSG00000065923ENST00000328306p.F178Fc.534C>TSubstitution - coding silent
ZXDBENSG00000198455ENST00000374888p.G682fs*16c.2037_2038insTInsertion - Frameshift
EIF2AK1ENSG00000086232ENST00000199389p.I198fs*2c.592delADeletion - Frameshift
FAM133BENSG00000234545ENST00000445716p.R91fs*68c.271delADeletion - Frameshift
FAM133BENSG00000234545ENST00000445716p.R91fs*68c.271delADeletion - Frameshift
COX6CENSG00000164919ENST00000297564p.R40Hc.119G>ASubstitution - Missense
COX6CENSG00000164919ENST00000520468p.R40Hc.119G>ASubstitution - Missense
TAF1LENSG00000122728ENST00000242310p.F42Fc.126C>TSubstitution - coding silent
DDX26BENSG00000165359ENST00000370752p.L120fs*1c.352delTDeletion - Frameshift
NM_182540.2p.L120fs*1c.352delTDeletion - Frameshift
GPR112ENSG00000156920ENST00000394143p.T343fs*16c.1020_1021insAInsertion - Frameshift
KIF6ENSG00000164627ENST00000287152p.L204fs*1c.611delTDeletion - Frameshift
AIM2ENSG00000163568ENST00000368130p.?c.1006-11_1019>22Unknown
OR10J5ENSG00000184155ENST00000334857p.A108Tc.322G>ASubstitution - Missense
ARHGEF11ENSG00000132694ENST00000368194p.E668Dc.2004G>TSubstitution - Missense
KIRRELENSG00000183853ENST00000368173p.D594Ac.1781A>CSubstitution - Missense
SEMA4AENSG00000196189ENST00000368285p.A585Tc.1753G>ASubstitution - Missense
PAQR6ENSG00000160781ENST00000292291p.C92Cc.276C>TSubstitution - coding silent
SMG5ENSG00000198952ENST00000361813p.?c.454+5G>CUnknown
SMG5ENSG00000198952ENST00000368267p.?c.454+5G>CUnknown
RHBGENSG00000132677ENST00000451864p.G133Gc.399C>TSubstitution - coding silent
C1orf61ENSG00000125462ENST00000368242p.Q50fs*77c.147delCDeletion - Frameshift
MRPL24ENSG00000143314ENST00000368211p.V88Mc.262G>ASubstitution - Missense
MYBPC3ENSG00000134571ENST00000399249p.G407Dc.1220G>ASubstitution - Missense
AGBL2ENSG00000165923ENST00000298861p.Y578Hc.1732T>CSubstitution - Missense
PTPRJENSG00000149177ENST00000418331p.A404Tc.1210G>ASubstitution - Missense
PTPRJENSG00000149177ENST00000418331p.A404Tc.1210G>ASubstitution - Missense
PTPRJENSG00000149177ENST00000418331p.F725Fc.2175C>TSubstitution - coding silent
PTPRJENSG00000149177ENST00000418331p.D873Nc.2617G>ASubstitution - Missense
HSD17B12ENSG00000149084ENST00000278353p.V45fs*26c.129delGDeletion - Frameshift
HSD17B12ENSG00000149084ENST00000278353p.S137Lc.410C>TSubstitution - Missense
ARHGAP32ENSG00000134909ENST00000310343p.A1672Vc.5015C>TSubstitution - Missense
ARHGAP32ENSG00000134909ENST00000392657p.A1323Vc.3968C>TSubstitution - Missense
STT3AENSG00000134910ENST00000392708p.C637*c.1911C>ASubstitution - Nonsense
BSXENSG00000188909ENST00000343035p.T196Ac.586A>GSubstitution - Missense
OR10G7ENSG00000182634ENST00000330487p.A206Ac.618C>TSubstitution - coding silent
PANX3ENSG00000154143ENST00000284288p.E179*c.535G>TSubstitution - Nonsense
ANKRD2ENSG00000165887ENST00000307518p.R328Qc.983G>ASubstitution - Missense
HELLSENSG00000119969ENST00000348459p.F752Sc.2255T>CSubstitution - Missense
BTAF1ENSG00000095564ENST00000265990p.E1506delEc.4514_4516delAAGDeletion - In frame
CDHR1ENSG00000148600ENST00000372117p.V702Ec.2105T>ASubstitution - Missense
LDB3ENSG00000122367ENST00000361373p.G552Sc.1654G>ASubstitution - Missense
ENST00000224764p.W253*c.758G>ASubstitution - Nonsense
ITIH5ENSG00000123243ENST00000397146p.R424*c.1270C>TSubstitution - Nonsense
DLG5ENSG00000151208ENST00000372391p.D898Ec.2694T>ASubstitution - Missense
ADKENSG00000156110ENST00000286621p.E76Gc.227A>GSubstitution - Missense
NM_152608.2p.E294Ac.881A>CSubstitution - Missense
NM_002221p.V459Vc.1377C>TSubstitution - coding silent
IBA57-AS1ENSG00000203684ENST00000366713p.R11Gc.31A>GSubstitution - Missense
MIA3ENSG00000154305ENST00000344922p.E898Gc.2693A>GSubstitution - Missense
SDE2ENSG00000143751ENST00000272091p.E306Ac.917A>CSubstitution - Missense
ENST00000319426p.S69*c.206C>ASubstitution - Nonsense
TAF1AENSG00000143498ENST00000352967p.T39Tc.117T>GSubstitution - coding silent
ZNF37AENSG00000075407ENST00000361085p.G296fs*135c.883delGDeletion - Frameshift
ZNF37AENSG00000075407ENST00000361085p.G296fs*135c.883delGDeletion - Frameshift
PARD3ENSG00000148498ENST00000374789p.?c.715-9T>CUnknown
CUL2ENSG00000108094ENST00000374751p.Y743Yc.2229C>TSubstitution - coding silent
FZD8ENSG00000177283ENST00000374694p.Y92Yc.276C>TSubstitution - coding silent
VCAM1ENSG00000162692ENST00000294728p.C625Yc.1874G>ASubstitution - Missense
KIF1BENSG00000054523ENST00000263934p.N232Yc.694A>TSubstitution - Missense
KIAA1462ENSG00000165757ENST00000375377p.R799Wc.2395C>TSubstitution - Missense
ENST00000359888p.S77Sc.231C>TSubstitution - coding silent
FARP1ENSG00000152767ENST00000376586p.P121Pc.363G>ASubstitution - coding silent
OAS2ENSG00000111335ENST00000342315p.W680Lc.2039G>TSubstitution - Missense
HECTD4ENSG00000173064ENST00000377560p.A2820fs*26c.8458delGDeletion - Frameshift
ENST00000377560_v62p.A3070fs*26c.9208delGDeletion - Frameshift
SSH1ENSG00000084112ENST00000326470p.V434Vc.1302A>GSubstitution - coding silent
ACACBENSG00000076555ENST00000377848p.G610Gc.1830C>TSubstitution - coding silent
TAS2R10ENSG00000121318ENST00000240619p.R3Hc.8G>ASubstitution - Missense
UBE3BENSG00000151148ENST00000434735p.?c.447+3_447+12delaacaaaaaaaUnknown
GIT2ENSG00000139436ENST00000355312p.N411Sc.1232A>GSubstitution - Missense
RB1ENSG00000139687ENST00000267163p.?c.1961-1G>AUnknown
INTS6ENSG00000102786ENST00000311234p.?c.1276-6C>TUnknown
KBTBD6ENSG00000165572ENST00000379485p.G435Gc.1305C>TSubstitution - coding silent
VWA8ENSG00000102763ENST00000379310p.L669Pc.2006T>CSubstitution - Missense
ENOX1ENSG00000120658ENST00000261488p.L450Lc.1348C>TSubstitution - coding silent
OPTNENSG00000123240ENST00000263036p.T34Mc.101C>TSubstitution - Missense
EBF3ENSG00000108001ENST00000368648p.P356Tc.1066C>ASubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.L2012Lc.6036A>GSubstitution - coding silent
ACADSBENSG00000196177ENST00000358776p.G104Gc.312T>CSubstitution - coding silent
ACADSBENSG00000196177ENST00000358776p.A286Vc.857C>TSubstitution - Missense
BUB3ENSG00000154473ENST00000368865p.R268*c.802C>TSubstitution - Nonsense
BUB3ENSG00000154473ENST00000368865p.R268*c.802C>TSubstitution - Nonsense
CHST15ENSG00000182022ENST00000346248p.G368Gc.1104C>TSubstitution - coding silent
CHST15ENSG00000182022ENST00000346248p.G26fs*27c.77delGDeletion - Frameshift
BCCIPENSG00000107949ENST00000299130p.S223Sc.669T>CSubstitution - coding silent
GAB2ENSG00000033327ENST00000361507p.R665Wc.1993C>TSubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.Y2085*c.6255T>ASubstitution - Nonsense
TENM4ENSG00000149256ENST00000278550p.N1427Sc.4280A>GSubstitution - Missense
OR10A6ENSG00000175393ENST00000309838p.R308Rc.924A>GSubstitution - coding silent
RPS3ENSG00000149273ENST00000531188p.L21Pc.62T>CSubstitution - Missense
CYB5R2ENSG00000166394ENST00000299498p.T145fs*8c.433delADeletion - Frameshift
ENST00000317359p.V297Mc.889G>ASubstitution - Missense
INTS4ENSG00000149262ENST00000534064p.A695Tc.2083G>ASubstitution - Missense
USP35ENSG00000118369ENST00000529308p.?c.1391+7G>AUnknown
XM_290527.3p.?c.659+7G>AUnknown
CLPBENSG00000162129ENST00000294053p.R362Wc.1084C>TSubstitution - Missense
DNAJB13ENSG00000187726ENST00000339764p.Q305Hc.915G>CSubstitution - Missense
POLGENSG00000140521ENST00000268124p.A710Vc.2129C>TSubstitution - Missense
NUMA1ENSG00000137497ENST00000393695p.S991Nc.2972G>ASubstitution - Missense
KLHL25ENSG00000183655ENST00000337975p.Q216*c.646C>TSubstitution - Nonsense
ENST00000268134p.T282Ac.844A>GSubstitution - Missense
KRT74ENSG00000170484ENST00000305620p.G66Gc.198C>TSubstitution - coding silent
HYKKENSG00000188266ENST00000388988p.C99Rc.295T>CSubstitution - Missense
RASGRF1ENSG00000058335ENST00000419573p.R354Hc.1061G>ASubstitution - Missense
BCL2A1ENSG00000140379ENST00000267953p.P110Lc.329C>TSubstitution - Missense
ARNT2ENSG00000172379ENST00000303329p.S111Lc.332C>TSubstitution - Missense
IL16ENSG00000172349ENST00000302987p.P737Pc.2211T>GSubstitution - coding silent
EFTUD1ENSG00000140598ENST00000268206p.W268Rc.802T>CSubstitution - Missense
ACVRL1ENSG00000139567ENST00000388922p.H355Rc.1064A>GSubstitution - Missense
KRT86ENSG00000170442ENST00000293525p.R33Hc.98G>ASubstitution - Missense
NM_175736.3p.C148*c.444T>ASubstitution - Nonsense
TMBIM6ENSG00000139644ENST00000267115p.T126Tc.378C>ASubstitution - coding silent
NCKAP5LENSG00000167566ENST00000335999p.P170fs*25c.509delCDeletion - Frameshift
KCNA5ENSG00000130037ENST00000252321p.P296fs*62c.884delCDeletion - Frameshift
ABCC9ENSG00000069431ENST00000261200p.R660Wc.1978C>TSubstitution - Missense
ADCY6ENSG00000174233ENST00000307885p.G74Gc.222C>TSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.R1617Wc.4849C>TSubstitution - Missense
PLBD1ENSG00000121316ENST00000240617p.R455Rc.1365A>GSubstitution - coding silent
LYSTENSG00000143669ENST00000389793p.A1059Ac.3177T>CSubstitution - coding silent
HEATR1ENSG00000119285ENST00000366582p.A913Tc.2737G>ASubstitution - Missense
CCSAPENSG00000154429ENST00000366687p.L218Lc.652T>CSubstitution - coding silent
URB2ENSG00000135763ENST00000258243p.A385Vc.1154C>TSubstitution - Missense
EPHB2ENSG00000133216ENST00000374627p.T52Tc.156G>ASubstitution - coding silent
EXOC8ENSG00000116903ENST00000360394p.R402Cc.1204C>TSubstitution - Missense
CEP290ENSG00000198707ENST00000552810p.A2461Tc.7381G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.V2531Mc.7591G>ASubstitution - Missense
NM_014903.3p.T556Ac.1666A>GSubstitution - Missense
PPP1R12AENSG00000058272ENST00000261207p.K294fs*8c.882delADeletion - Frameshift
METTL25ENSG00000127720ENST00000248306p.P55Qc.164C>ASubstitution - Missense
PPM1HENSG00000111110ENST00000228705p.A218fs*39c.652delGDeletion - Frameshift
WIF1ENSG00000156076ENST00000286574p.R196Cc.586C>TSubstitution - Missense
WIF1ENSG00000156076ENST00000286574p.R196Cc.586C>TSubstitution - Missense
APOBEC1ENSG00000111701ENST00000229304p.A234Vc.701C>TSubstitution - Missense
ANO2ENSG00000047617ENST00000546188p.P484Pc.1452T>CSubstitution - coding silent
ANO2ENSG00000047617ENST00000327087p.P483Pc.1449T>CSubstitution - coding silent
VWFENSG00000110799ENST00000261405p.A542Vc.1625C>TSubstitution - Missense
NAB2ENSG00000166886ENST00000300131p.P211fs*58c.626delCDeletion - Frameshift
STAC3ENSG00000185482ENST00000332782p.P100Sc.298C>TSubstitution - Missense
R3HDM2ENSG00000179912ENST00000347140p.N29fs*46c.86delADeletion - Frameshift
ATE1ENSG00000107669ENST00000369043p.S383Pc.1147T>CSubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.P222Hc.665C>ASubstitution - Missense
ENST00000368915p.P222Hc.665C>ASubstitution - Missense
AFAP1L2ENSG00000169129ENST00000304129p.P494Sc.1480C>TSubstitution - Missense
FAM160B1ENSG00000151553ENST00000369248p.M285Tc.854T>CSubstitution - Missense
FAM160B1ENSG00000151553ENST00000369250p.M285Tc.854T>CSubstitution - Missense
PNLIPENSG00000175535ENST00000369221p.N162Sc.485A>GSubstitution - Missense
ENO4ENSG00000188316ENST00000341276p.I90Kc.269T>ASubstitution - Missense
BAG3ENSG00000151929ENST00000369085p.G68Ac.203G>CSubstitution - Missense
ZNF124ENSG00000196418ENST00000340684p.R127Hc.380G>ASubstitution - Missense
NLRP3ENSG00000162711ENST00000391828p.S112Nc.335G>ASubstitution - Missense
PLEKHS1ENSG00000148735ENST00000361048p.G361*c.1081G>TSubstitution - Nonsense
IL22RA1ENSG00000142677ENST00000270800p.T40Tc.120G>ASubstitution - coding silent
KIF26BENSG00000162849ENST00000407071p.P1260Pc.3780G>ASubstitution - coding silent
KIF26BENSG00000162849ENST00000407071p.P1260Pc.3780G>ASubstitution - coding silent
KIF26BENSG00000162849ENST00000407071p.R1746Rc.5238C>TSubstitution - coding silent
NM_130398.2p.N299Nc.897C>TSubstitution - coding silent
PLD5ENSG00000180287ENST00000366545p.K349Ec.1045A>GSubstitution - Missense
NALCNENSG00000102452ENST00000251127p.S1224Sc.3672G>ASubstitution - coding silent
SLC25A3ENSG00000075415ENST00000551917p.A236Tc.706G>ASubstitution - Missense
SLC25A3ENSG00000075415ENST00000188376p.A235Tc.703G>ASubstitution - Missense
SHANK2ENSG00000162105ENST00000338508p.R86Qc.257G>ASubstitution - Missense
A2MENSG00000175899ENST00000318602p.Y1453Yc.4359C>TSubstitution - coding silent
C12orf74ENSG00000214215ENST00000397833p.Y187Yc.561T>CSubstitution - coding silent
DEAF1ENSG00000177030ENST00000382409p.N120Nc.360C>TSubstitution - coding silent
ANO1ENSG00000131620ENST00000355303p.R814Hc.2441G>ASubstitution - Missense
UNC93B1ENSG00000110057ENST00000227471p.L412Pc.1235T>CSubstitution - Missense
NM_017635.3p.T701Ac.2101A>GSubstitution - Missense
DPP3ENSG00000254986ENST00000360510p.T401Mc.1202C>TSubstitution - Missense
CCDC87ENSG00000182791ENST00000333861p.F762Ic.2284T>ASubstitution - Missense
C11orf80ENSG00000173715ENST00000360962p.?c.845+10T>CUnknown
BSCL2ENSG00000168000ENST00000403550p.P231Lc.692C>TSubstitution - Missense
ZBTB3ENSG00000185670ENST00000394807p.Q353Hc.1059G>TSubstitution - Missense
PTGDR2ENSG00000183134ENST00000332539p.R175Wc.523C>TSubstitution - Missense
DAGLAENSG00000134780ENST00000257215p.T400fs*8c.1193delGDeletion - Frameshift
FAM111AENSG00000166801ENST00000528737p.C407Yc.1220G>ASubstitution - Missense
DTX4ENSG00000110042ENST00000227451p.?c.1625_1626+2delAAgtUnknown
DTX4ENSG00000110042ENST00000227451p.?c.1307_1308+2delAAgtUnknown
NFATC4ENSG00000100968ENST00000413692p.R370Lc.1109G>TSubstitution - Missense
NFATC4ENSG00000100968ENST00000250373p.R307Lc.920G>TSubstitution - Missense
KHNYNENSG00000100441ENST00000251343p.Y468Hc.1402T>CSubstitution - Missense
CPNE6ENSG00000100884ENST00000397016p.V292Vc.876G>ASubstitution - coding silent
PCK2ENSG00000100889ENST00000216780p.R608Hc.1823G>ASubstitution - Missense
DCAF11ENSG00000100897ENST00000559115p.Y468Yc.1404C>TSubstitution - coding silent
RNF31ENSG00000092098ENST00000324103p.Y878Yc.2634C>TSubstitution - coding silent
MMP14ENSG00000157227ENST00000311852p.S254Lc.761C>TSubstitution - Missense
HAUS4ENSG00000092036ENST00000206474p.S258Sc.774C>TSubstitution - coding silent
ACIN1ENSG00000100813ENST00000262710p.R1181Hc.3542G>ASubstitution - Missense
ACIN1ENSG00000100813ENST00000262710p.S190Gc.568A>GSubstitution - Missense
RNASE8ENSG00000173431ENST00000308227p.S34Sc.102A>GSubstitution - coding silent
SALL2ENSG00000165821ENST00000327430p.A133Ac.399G>ASubstitution - coding silent
OR4E2ENSG00000221977ENST00000408935p.F308fs*>6c.917delTDeletion - Frameshift
BRF1ENSG00000185024ENST00000546474p.S597Fc.1790C>TSubstitution - Missense
BAG5ENSG00000166170ENST00000299204p.N325fs*23c.967_968insAInsertion - Frameshift
BAG5ENSG00000166170ENST00000337322p.Y282Cc.845A>GSubstitution - Missense
BAG5ENSG00000166170ENST00000337322p.C159Cc.477C>TSubstitution - coding silent
TDRD9ENSG00000156414ENST00000409874p.V1284Ic.3850G>ASubstitution - Missense
ENST00000299234p.?c.838-9G>AUnknown
CEP170BENSG00000099814ENST00000414716p.T439Mc.1316C>TSubstitution - Missense
CEP170BENSG00000099814ENST00000556508p.T369Mc.1106C>TSubstitution - Missense
ZNF839ENSG00000022976ENST00000442396p.Q154Pc.461A>CSubstitution - Missense
MARK3ENSG00000075413ENST00000416682p.G263Wc.787G>TSubstitution - Missense
JAKMIP3ENSG00000188385ENST00000298622p.R61Cc.181C>TSubstitution - Missense
MKI67ENSG00000148773ENST00000368654p.T2389Tc.7167A>GSubstitution - coding silent
CACNA1EENSG00000198216ENST00000367570p.C892Yc.2675G>ASubstitution - Missense
TNNT3ENSG00000130595ENST00000278317p.?c.17+8C>TUnknown
RCC2ENSG00000179051ENST00000375433p.A410Vc.1229C>TSubstitution - Missense
ABL2ENSG00000143322ENST00000502732p.R668Cc.2002C>TSubstitution - Missense
NM_005158p.R632Cc.1894C>TSubstitution - Missense
ENST00000265969_v68p.A378Tc.1132G>ASubstitution - Missense
LSP1ENSG00000130592ENST00000311604p.E126Kc.376G>ASubstitution - Missense
GLB1L3ENSG00000166105ENST00000431683p.S546Cc.1637C>GSubstitution - Missense
KRTAP5-1ENSG00000205869ENST00000382171p.G229Cc.685G>TSubstitution - Missense
USH1CENSG00000006611ENST00000005226p.R757Hc.2270G>ASubstitution - Missense
USH1CENSG00000006611ENST00000318024p.R457Hc.1370G>ASubstitution - Missense
TOLLIPENSG00000078902ENST00000317204p.T51Tc.153C>TSubstitution - coding silent
ARNTLENSG00000133794ENST00000396441p.?c.180-8delcUnknown
ARNTLENSG00000133794ENST00000396441p.V340Ac.1019T>CSubstitution - Missense
OLFML2BENSG00000162745ENST00000294794p.P17Lc.50C>TSubstitution - Missense
SLAMF7ENSG00000026751ENST00000368043p.?c.376+3G>TUnknown
FAN1ENSG00000198690ENST00000561594p.R246Rc.736C>ASubstitution - coding silent
ATP1A2ENSG00000018625ENST00000361216p.?c.12+8T>GUnknown
NM_004667.3p.G550Ec.1649G>ASubstitution - Missense
SH3D21ENSG00000214193ENST00000312808p.?c.1073+6T>CUnknown
MEGF6ENSG00000162591ENST00000356575p.G1318Dc.3953G>ASubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.A103Tc.307G>ASubstitution - Missense
ENST00000326544p.K492Ec.1474A>GSubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.A3037Ac.9111C>GSubstitution - coding silent
CSMD2ENSG00000121904ENST00000373381p.L2915Fc.8745G>TSubstitution - Missense
LAPTM5ENSG00000162511ENST00000294507p.L149Mc.445C>ASubstitution - Missense
SERINC2ENSG00000168528ENST00000373709p.T421Mc.1262C>TSubstitution - Missense
SUCOENSG00000094975ENST00000263688p.Y658Cc.1973A>GSubstitution - Missense
SUCOENSG00000094975ENST00000367723p.Y810Cc.2429A>GSubstitution - Missense
CROCCENSG00000058453ENST00000375541p.A477Ac.1431G>ASubstitution - coding silent
SLC9C2ENSG00000162753ENST00000367714p.F199fs*19c.597delTDeletion - Frameshift
DARS2ENSG00000117593ENST00000361951p.D461Ec.1383C>ASubstitution - Missense
RC3H1ENSG00000135870ENST00000258349p.R756Hc.2267G>ASubstitution - Missense
EPB41ENSG00000159023ENST00000349460p.G364Dc.1091G>ASubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.A1041Tc.3121G>ASubstitution - Missense
DNM3ENSG00000197959ENST00000358155p.E153Kc.457G>ASubstitution - Missense
ATP8A2ENSG00000132932ENST00000381655p.R910Cc.2728C>TSubstitution - Missense
FLT1ENSG00000102755ENST00000282397p.K1153fs*2c.3459delADeletion - Frameshift
AKAP3ENSG00000111254ENST00000545990p.L178Pc.533T>CSubstitution - Missense
PCED1BENSG00000179715ENST00000546455p.R80Hc.239G>ASubstitution - Missense
COL2A1ENSG00000139219ENST00000380518p.R701*c.2101C>TSubstitution - Nonsense
COL2A1ENSG00000139219ENST00000337299p.R632*c.1894C>TSubstitution - Nonsense
RNF17ENSG00000132972ENST00000255324p.?c.4278+6T>CUnknown
NM_005056.1p.?c.1149+10C>TUnknown
ARID2ENSG00000189079ENST00000334344p.D453Dc.1359T>CSubstitution - coding silent
SCAF11ENSG00000139218ENST00000369367p.P758Pc.2274G>ASubstitution - coding silent
ALDH1L2ENSG00000136010ENST00000258494p.R508Rc.1524A>GSubstitution - coding silent
KIF21AENSG00000139116ENST00000395670p.N135fs*9c.399_400insAInsertion - Frameshift
CLEC1AENSG00000150048ENST00000315330p.?c.662+6C>TUnknown
NT5DC3ENSG00000111696ENST00000392876p.L159Sc.476T>CSubstitution - Missense
CEP57ENSG00000166037ENST00000325542p.K263fs*11c.785_786insAInsertion - Frameshift
UHRF1BP1LENSG00000111647ENST00000279907p.V1405Gc.4214T>GSubstitution - Missense
WDR96ENSG00000197748ENST00000357060p.R1040Hc.3119G>ASubstitution - Missense
IPO7ENSG00000205339ENST00000379719p.S388Cc.1163C>GSubstitution - Missense
ENST00000336486p.Y807Yc.2421C>TSubstitution - coding silent
PSDENSG00000059915ENST00000020673p.M658Vc.1972A>GSubstitution - Missense
OBFC1ENSG00000107960ENST00000369764p.?c.133+6T>CUnknown
ERLIN1ENSG00000107566ENST00000421367p.I25Tc.74T>CSubstitution - Missense
CWF19L1ENSG00000095485ENST00000354105p.R399*c.1195C>TSubstitution - Nonsense
CWF19L1ENSG00000095485ENST00000354105p.V161Mc.481G>ASubstitution - Missense
PDZD7ENSG00000186862ENST00000370215p.R476Qc.1427G>ASubstitution - Missense
MGEA5ENSG00000198408ENST00000361464p.?c.1985-8C>TUnknown
KCNIP2ENSG00000120049ENST00000461105p.?c.394-3C>TUnknown
PPAPDC1AENSG00000203805ENST00000398250p.R242*c.724C>TSubstitution - Nonsense
MEIOBENSG00000162039ENST00000325962p.I53Tc.158T>CSubstitution - Missense
NPRL3ENSG00000103148ENST00000399953p.Y237Hc.709T>CSubstitution - Missense
PDXDC1ENSG00000179889ENST00000396410p.Q759Qc.2277G>ASubstitution - coding silent
TPRENSG00000047410ENST00000367478p.D2181Ac.6542A>CSubstitution - Missense
PLA2G4AENSG00000116711ENST00000367466p.M697Tc.2090T>CSubstitution - Missense
PAX7ENSG00000009709ENST00000420770p.A251Ac.753G>ASubstitution - coding silent
PIAS3ENSG00000131788ENST00000393045p.R111Cc.331C>TSubstitution - Missense
PIAS3ENSG00000131788ENST00000393045p.?c.1449-5C>TUnknown
NBPF12ENSG00000186275ENST00000446760p.Q27fs*18c.75delCDeletion - Frameshift
NM_004284.2p.A508Ac.1524C>TSubstitution - coding silent
NBPF14ENSG00000122497ENST00000369219p.Q645Qc.1935G>ASubstitution - coding silent
NBPF14ENSG00000122497ENST00000310701p.?c.89-3T>CUnknown
KCNA3ENSG00000177272ENST00000369769p.R185Hc.554G>ASubstitution - Missense
OVGP1ENSG00000085465ENST00000369732p.R265Cc.793C>TSubstitution - Missense
CTTNBP2NLENSG00000143079ENST00000271277p.R44Cc.130C>TSubstitution - Missense
GPR61ENSG00000156097ENST00000404129p.R278Qc.833G>ASubstitution - Missense
GPR61ENSG00000156097ENST00000404129p.S324Sc.972T>CSubstitution - coding silent
AHCYL1ENSG00000168710ENST00000369799p.R294*c.880C>TSubstitution - Nonsense
APIPENSG00000149089ENST00000395787p.R131Wc.391C>TSubstitution - Missense
APIPENSG00000149089ENST00000278359p.R148Wc.442C>TSubstitution - Missense
CASZ1ENSG00000130940ENST00000377022p.G275Sc.823G>ASubstitution - Missense
KCNA4ENSG00000182255ENST00000328224p.R389Hc.1166G>ASubstitution - Missense
CARSENSG00000110619ENST00000380525p.I684Ic.2052T>CSubstitution - coding silent
CARSENSG00000110619ENST00000397114p.I591Ic.1773T>CSubstitution - coding silent
EIF3MENSG00000149100ENST00000531120p.A315Tc.943G>ASubstitution - Missense
QSER1ENSG00000060749ENST00000399302p.Y1678delYc.5030_5032delATTDeletion - In frame
HIPK3ENSG00000110422ENST00000303296p.R1025*c.3073C>TSubstitution - Nonsense
BET1LENSG00000177951ENST00000382762p.V93Mc.277G>ASubstitution - Missense
RIC8AENSG00000177963ENST00000325207p.I261Ic.783C>TSubstitution - coding silent
IGF2ENSG00000167244ENST00000381395p.E174fs*>8c.511_512insCInsertion - Frameshift
THENSG00000180176ENST00000381178p.A28Tc.82G>ASubstitution - Missense
GRIA4ENSG00000152578ENST00000282499p.N371Dc.1111A>GSubstitution - Missense
GRIA4ENSG00000152578ENST00000393127p.N371Dc.1111A>GSubstitution - Missense
MRVI1ENSG00000072952ENST00000436272p.R378fs*47c.1132delCDeletion - Frameshift
KDELC2ENSG00000178202ENST00000323468p.K501Rc.1502A>GSubstitution - Missense
ANGPTL5ENSG00000187151ENST00000334289p.?c.440-7T>GUnknown
HYOU1ENSG00000149428ENST00000404233p.A425Vc.1274C>TSubstitution - Missense
HMBSENSG00000256269ENST00000278715p.A347Ac.1041C>ASubstitution - coding silent
MCAMENSG00000076706ENST00000264036p.T599Mc.1796C>TSubstitution - Missense
MCAMENSG00000076706ENST00000264036p.L575Lc.1725G>ASubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.R2279*c.6835C>TSubstitution - Nonsense
ZNF259ENSG00000109917ENST00000227322p.C259Rc.775T>CSubstitution - Missense
CAPS2ENSG00000180881ENST00000409445p.K459Nc.1377G>TSubstitution - Missense
CAPS2ENSG00000180881ENST00000328705p.K227Nc.681G>TSubstitution - Missense
CAPS2ENSG00000180881ENST00000328705p.R122Qc.365G>ASubstitution - Missense
CD163ENSG00000177575ENST00000359156p.G643Vc.1928G>TSubstitution - Missense
NCAM1ENSG00000149294ENST00000316851p.T458fs*9c.1372delADeletion - Frameshift
NCAM1ENSG00000149294ENST00000401611p.T467fs*9c.1399delADeletion - Frameshift
NCAM1ENSG00000149294ENST00000316851p.S460fs*7c.1373delCDeletion - Frameshift
NCAM1ENSG00000149294ENST00000401611p.S469fs*7c.1400delCDeletion - Frameshift
C1SENSG00000182326ENST00000328916p.C202Yc.605G>ASubstitution - Missense
ENST00000290575p.N337Dc.1009A>GSubstitution - Missense
ACSM4ENSG00000215009ENST00000399422p.V119fs*1c.355delGDeletion - Frameshift
IL22ENSG00000127318ENST00000328087p.Q94Rc.281A>GSubstitution - Missense
FRS2ENSG00000166225ENST00000299293p.N145Sc.434A>GSubstitution - Missense
FRS2ENSG00000166225ENST00000299293p.N145Sc.434A>GSubstitution - Missense
BEST3ENSG00000127325ENST00000330891p.A40Pc.118G>CSubstitution - Missense
ATN1ENSG00000111676ENST00000396684p.R1020Wc.3058C>TSubstitution - Missense
RNASELENSG00000135828ENST00000367559p.S406Fc.1217C>TSubstitution - Missense
DHX9ENSG00000135829ENST00000367549p.A1212Tc.3634G>ASubstitution - Missense
RGL1ENSG00000143344ENST00000304685p.F125fs*17c.373_374delTTDeletion - Frameshift
ARHGEF10LENSG00000074964ENST00000361221p.S411Gc.1231A>GSubstitution - Missense
KIAA1614ENSG00000135835ENST00000367588p.?c.3287+2T>CUnknown
CACNA1EENSG00000198216ENST00000367573p.C892Yc.2675G>ASubstitution - Missense
PTPRFENSG00000142949ENST00000359947p.R292Hc.875G>ASubstitution - Missense
BTBD19ENSG00000222009ENST00000450269p.S183Nc.548G>ASubstitution - Missense
MYCLENSG00000116990ENST00000397332p.R323Rc.969G>ASubstitution - coding silent
ZFP69BENSG00000187801ENST00000411995p.A399Ac.1197G>ASubstitution - coding silent
FOXJ3ENSG00000198815ENST00000372573p.?c.1646-10A>GUnknown
C1orf122ENSG00000197982ENST00000373042p.L151Lc.453G>TSubstitution - coding silent
MACF1ENSG00000127603ENST00000361689p.T341Nc.1022C>ASubstitution - Missense
ARFIP2ENSG00000132254ENST00000396777p.A237Tc.709G>ASubstitution - Missense
PCNXL3ENSG00000197136ENST00000355703p.R1024Hc.3071G>ASubstitution - Missense
CTSWENSG00000172543ENST00000307886p.T261Tc.783C>TSubstitution - coding silent
ATG2AENSG00000110046ENST00000377264p.T511Ic.1532C>TSubstitution - Missense
ZFPL1ENSG00000162300ENST00000294258p.H227Hc.681T>CSubstitution - coding silent
VPS51ENSG00000149823ENST00000279281p.T536Mc.1607C>TSubstitution - Missense
SYVN1ENSG00000162298ENST00000377190p.A71Tc.211G>ASubstitution - Missense
RTN3ENSG00000133318ENST00000339997p.A182Vc.545C>TSubstitution - Missense
STIP1ENSG00000168439ENST00000305218p.D358Nc.1072G>ASubstitution - Missense
PLCB3ENSG00000149782ENST00000279230p.Y77Yc.231C>TSubstitution - coding silent
RPS6KA4ENSG00000162302ENST00000334205p.R193Qc.578G>ASubstitution - Missense
HKDC1ENSG00000156510ENST00000354624p.D73Nc.217G>ASubstitution - Missense
HKDC1ENSG00000156510ENST00000354624p.G317Dc.950G>ASubstitution - Missense
ASCC1ENSG00000138303ENST00000394919p.R117*c.349C>TSubstitution - Nonsense
ENST00000334048p.R127Hc.380G>ASubstitution - Missense
JMJD1CENSG00000171988ENST00000402544p.V1733Vc.5199A>GSubstitution - coding silent
JMJD1CENSG00000171988ENST00000402544p.K1593Tc.4778A>CSubstitution - Missense
ENST00000417177p.L429Sc.1286T>CSubstitution - Missense
FAM208BENSG00000108021ENST00000328090p.A554Gc.1661C>GSubstitution - Missense
BICC1ENSG00000122870ENST00000373886p.R804Hc.2411G>ASubstitution - Missense
ANK3ENSG00000151150ENST00000280772p.A549Tc.1645G>ASubstitution - Missense
DKK1ENSG00000107984ENST00000373970p.G5Gc.15C>TSubstitution - coding silent
UCN3ENSG00000178473ENST00000380433p.L143Lc.427C>TSubstitution - coding silent
AKR1C1ENSG00000187134ENST00000380872p.Q190*c.568C>TSubstitution - Nonsense
C10orf71ENSG00000177354ENST00000323868p.?c.2075-6_2075-1delacacacUnknown
OGDHLENSG00000197444ENST00000374103p.C703Rc.2107T>CSubstitution - Missense
GDF2ENSG00000128802ENST00000249598p.D366Dc.1098C>TSubstitution - coding silent
ENSG00000234719ENST00000399147p.A293Vc.878C>TSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.G784Sc.2350G>ASubstitution - Missense
MPGENSG00000103152ENST00000219431p.T3Ic.8C>TSubstitution - Missense
ERCC4ENSG00000175595ENST00000311895p.T316Mc.947C>TSubstitution - Missense
FURINENSG00000140564ENST00000268171p.H645Hc.1935C>TSubstitution - coding silent
RGMAENSG00000182175ENST00000557301p.T136Mc.407C>TSubstitution - Missense
TMEM63CENSG00000165548ENST00000298351p.T426Mc.1277C>TSubstitution - Missense
JDP2ENSG00000140044ENST00000267569p.R89Cc.265C>TSubstitution - Missense
JDP2ENSG00000140044ENST00000419727p.R78Cc.232C>TSubstitution - Missense
KIAA0247ENSG00000100647ENST00000342745p.L174Pc.521T>CSubstitution - Missense
SLC8A3ENSG00000100678ENST00000381269p.E147Ac.440A>CSubstitution - Missense
HEATR4ENSG00000187105ENST00000334988p.H198Hc.594C>TSubstitution - coding silent
DNAL1ENSG00000119661ENST00000553645p.K128Nc.384A>CSubstitution - Missense
DNAL1ENSG00000119661ENST00000553645p.K128Nc.384A>CSubstitution - Missense
ELMSAN1ENSG00000156030ENST00000286523p.P401Lc.1202C>TSubstitution - Missense
ZNF410ENSG00000119725ENST00000555044p.L365Pc.1094T>CSubstitution - Missense
ANKRD26ENSG00000107890ENST00000376070p.Y1035Cc.3104A>GSubstitution - Missense
SVILENSG00000197321ENST00000355867p.T1934Tc.5802G>ASubstitution - coding silent
KIAA1217ENSG00000120549ENST00000376454p.P1936fs*>8c.5804delCDeletion - Frameshift
MYO3AENSG00000095777ENST00000265944p.K1445fs*2c.4330delADeletion - Frameshift
APBB1IPENSG00000077420ENST00000376236p.?c.1044+4_1044+7delagaaUnknown
ABI1ENSG00000136754ENST00000376142p.Y447Yc.1341T>CSubstitution - coding silent
CUBNENSG00000107611ENST00000377833p.Y3486Hc.10456T>CSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.E3602Kc.10804G>ASubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.E3602Kc.10804G>ASubstitution - Missense
SMG1ENSG00000157106ENST00000446231p.T2314Mc.6941C>TSubstitution - Missense
SMG1ENSG00000157106ENST00000446231p.H2189Rc.6566A>GSubstitution - Missense
SU_SMG1p.H2185Rc.6554A>GSubstitution - Missense
SU_SMG1p.R1640Hc.4919G>ASubstitution - Missense
SU_SMG1p.S146Lc.437C>TSubstitution - Missense
C1orf43ENSG00000143612ENST00000368521p.I154Ic.462T>CSubstitution - coding silent
C1orf43ENSG00000143612ENST00000350592p.I120Ic.360T>CSubstitution - coding silent
C1orf195ENSG00000204464ENST00000376005p.P2Lc.5C>TSubstitution - Missense
PGLYRP3ENSG00000159527ENST00000290722p.V224Ic.670G>ASubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.?c.3624-1G>CUnknown
TSPAN11ENSG00000110900ENST00000261177p.K154Kc.462G>ASubstitution - coding silent
KIAA1551ENSG00000174718ENST00000312561p.G1077Cc.3229G>TSubstitution - Missense
FGD4ENSG00000139132ENST00000427716p.A9Ac.27T>GSubstitution - coding silent
CACNA1CENSG00000151067ENST00000344100p.R1697Hc.5090G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.R1734Hc.5201G>ASubstitution - Missense
ENST00000322367p.R1191Hc.3572G>ASubstitution - Missense
C2CD5ENSG00000111731ENST00000333957p.?c.2269-6G>AUnknown
C2CD5ENSG00000111731ENST00000544930p.?c.1714-6G>AUnknown
SOX5ENSG00000134532ENST00000451604p.L154Ic.460C>ASubstitution - Missense
LYSMD4ENSG00000183060ENST00000378904p.T103Mc.308C>TSubstitution - Missense
ADAMTS17ENSG00000140470ENST00000268070p.E965Dc.2895G>TSubstitution - Missense
LRRK1ENSG00000154237ENST00000284395p.P115Sc.343C>TSubstitution - Missense
LRRK1ENSG00000154237ENST00000284395p.T1560Tc.4680G>ASubstitution - coding silent
RHPN2ENSG00000131941ENST00000400226p.V83Mc.247G>ASubstitution - Missense
TRIM9ENSG00000100505ENST00000298355p.S80Sc.240C>ASubstitution - coding silent
TMX1ENSG00000139921ENST00000457354p.R269Cc.805C>TSubstitution - Missense
PAPOLAENSG00000090060ENST00000216277p.R60Hc.179G>ASubstitution - Missense
SSTR1ENSG00000139874ENST00000267377p.S185Sc.555G>ASubstitution - coding silent
MROH7ENSG00000184313ENST00000421030p.D975Dc.2925C>TSubstitution - coding silent
ARHGAP5ENSG00000100852ENST00000345122p.S406Sc.1218C>TSubstitution - coding silent
FBN1ENSG00000166147ENST00000316623p.A2086Vc.6257C>TSubstitution - Missense
FBN1ENSG00000166147ENST00000316623p.R1137Hc.3410G>ASubstitution - Missense
ENST00000341288p.S679Sc.2037T>CSubstitution - coding silent
NASPENSG00000132780ENST00000350030p.S677Sc.2031T>CSubstitution - coding silent
POMGNT1ENSG00000085998ENST00000371992p.A168Vc.503C>TSubstitution - Missense
RAD54LENSG00000085999ENST00000442598p.S218Lc.653C>TSubstitution - Missense
CYP4Z1ENSG00000186160ENST00000334194p.W83Cc.249G>TSubstitution - Missense
SPG11ENSG00000104133ENST00000261866p.E1026fs*12c.3075delADeletion - Frameshift
SPG11ENSG00000104133ENST00000558319p.T652Tc.1956C>ASubstitution - coding silent
SLC24A5ENSG00000188467ENST00000341459p.A184Tc.550G>ASubstitution - Missense
LCMT2ENSG00000168806ENST00000305641p.G374Rc.1120G>CSubstitution - Missense
ZSCAN29ENSG00000140265ENST00000396976p.C272Yc.815G>ASubstitution - Missense
DUSP27ENSG00000198842ENST00000361200p.R1116Qc.3347G>ASubstitution - Missense
PLA2G4DENSG00000159337ENST00000290472p.P564Pc.1692C>ASubstitution - coding silent
THEM5ENSG00000196407ENST00000368817p.M1Vc.1A>GSubstitution - Missense
FLGENSG00000143631ENST00000368799p.R3248Gc.9742A>GSubstitution - Missense
GABPB2ENSG00000143458ENST00000368918p.K69Ec.205A>GSubstitution - Missense
SEMA6CENSG00000143434ENST00000341697p.?c.1714+2T>CUnknown
PSMB4ENSG00000159377ENST00000290541p.R231Wc.691C>TSubstitution - Missense
POGZENSG00000143442ENST00000491586p.P688fs*14c.2063delCDeletion - Frameshift
POGZENSG00000143442ENST00000271715p.K422Kc.1266G>ASubstitution - coding silent
NBPF20ENSG00000203832ENST00000369202p.Q27fs*18c.79delCDeletion - Frameshift
SF3B4ENSG00000143368ENST00000271628p.P370Pc.1110G>ASubstitution - coding silent
RPRD2ENSG00000163125ENST00000369068p.A1051Tc.3151G>ASubstitution - Missense
SPAG17ENSG00000155761ENST00000336338p.P191Pc.573A>GSubstitution - coding silent
VPS13DENSG00000048707ENST00000358136p.G788Rc.2362G>ASubstitution - Missense
TSPAN2ENSG00000134198ENST00000369516p.G79Ec.236G>ASubstitution - Missense
NM_006341.2p.A156Tc.466G>ASubstitution - Missense
TTF2ENSG00000116830ENST00000369466p.R524*c.1570C>TSubstitution - Nonsense
TRIM45ENSG00000134253ENST00000256649p.L179Lc.535T>CSubstitution - coding silent
KDM2BENSG00000089094ENST00000377069p.V340Mc.1018G>ASubstitution - Missense
HPDENSG00000158104ENST00000289004p.?c.415-5C>GUnknown
NM_000036.1p.R716Wc.2146C>TSubstitution - Missense
AMPD1ENSG00000116748ENST00000520113p.E86Gc.257A>GSubstitution - Missense
CCDC60ENSG00000183273ENST00000327554p.R421Cc.1261C>TSubstitution - Missense
GCN1L1ENSG00000089154ENST00000300648p.P1032Pc.3096G>ASubstitution - coding silent
PTCH2ENSG00000117425ENST00000372192p.?c.1591-10C>TUnknown
DDX54ENSG00000123064ENST00000306014p.V326Mc.976G>ASubstitution - Missense
TBX3ENSG00000135111ENST00000257566p.S339Pc.1015T>CSubstitution - Missense
ROR1ENSG00000185483ENST00000371079p.L636Ic.1906C>ASubstitution - Missense
ZBTB48ENSG00000204859ENST00000377674p.E684Kc.2050G>ASubstitution - Missense
WDR78ENSG00000152763ENST00000371026p.P469Pc.1407C>TSubstitution - coding silent
ACOT7ENSG00000097021ENST00000361521p.R99Hc.296G>ASubstitution - Missense
ACOT7ENSG00000097021ENST00000377842p.R58Hc.173G>ASubstitution - Missense
MAP3K6ENSG00000142733ENST00000493901p.A635Tc.1903G>ASubstitution - Missense
AHDC1ENSG00000126705ENST00000247087p.T1157Mc.3470C>TSubstitution - Missense
AHDC1ENSG00000126705ENST00000247087p.R861Cc.2581C>TSubstitution - Missense
SYF2ENSG00000117614ENST00000236273p.R193*c.577C>TSubstitution - Nonsense
RHCEENSG00000188672ENST00000294413p.G278Gc.834C>TSubstitution - coding silent
CNKSR1ENSG00000142675ENST00000361530p.?c.753+5G>AUnknown
FAM46BENSG00000158246ENST00000289166p.R47Wc.139C>TSubstitution - Missense
SLC9A1ENSG00000090020ENST00000263980p.?c.1821-10A>GUnknown
OR14A16ENSG00000196772ENST00000357627p.T17Ac.49A>GSubstitution - Missense
OR2T8ENSG00000177462ENST00000319968p.R92Cc.274C>TSubstitution - Missense
ZNF672ENSG00000171161ENST00000306562p.T213Mc.638C>TSubstitution - Missense
PGBD2ENSG00000185220ENST00000329291p.A51Vc.152C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.R681Cc.2041C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.R747Cc.2239C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313431p.R844Cc.2530C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.Q448Rc.1343A>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313431p.Q611Rc.1832A>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.R681Cc.2041C>TSubstitution - Missense
TMEM132DENSG00000151952ENST00000422113p.R142Rc.426G>ASubstitution - coding silent
GSG1ENSG00000111305ENST00000432710p.A322Vc.965C>TSubstitution - Missense
NCOR2ENSG00000196498ENST00000405201p.?c.2928+7G>AUnknown
NM_006312.2p.?c.2928+7G>AUnknown
DHX37ENSG00000150990ENST00000308736p.T1024Ic.3071C>TSubstitution - Missense
CREBL2ENSG00000111269ENST00000228865p.R17Hc.50G>ASubstitution - Missense
VPS37BENSG00000139722ENST00000267202p.P209Pc.627C>ASubstitution - coding silent
ABCB9ENSG00000150967ENST00000392439p.R57Cc.169C>TSubstitution - Missense
SBNO1ENSG00000139697ENST00000267176p.?c.4036+4A>GUnknown
ATP6V0A2ENSG00000185344ENST00000330342p.G834Gc.2502C>TSubstitution - coding silent
DENND5AENSG00000184014ENST00000328194p.C1138Yc.3413G>ASubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.L926fs*1c.2771delTDeletion - Frameshift
ENST00000298047_v61p.L926fs*1c.2771delTDeletion - Frameshift
ENST00000298047_v61p.P2701Pc.8103T>CSubstitution - coding silent
FAT3ENSG00000165323ENST00000409404p.T2850Tc.8550T>GSubstitution - coding silent
ENST00000298047_v61p.T2850Tc.8550T>GSubstitution - coding silent
TRIM66ENSG00000166436ENST00000299550p.?c.1713+7G>AUnknown
ADAM10ENSG00000137845ENST00000260408p.?c.1696-1G>AUnknown
PCF11ENSG00000165494ENST00000298281p.S346fs*2c.1030_1031insAInsertion - Frameshift
LYSMD2ENSG00000140280ENST00000267838p.S206Rc.616A>CSubstitution - Missense
ONECUT1ENSG00000169856ENST00000305901p.R332Cc.994C>TSubstitution - Missense
TMEM81ENSG00000174529ENST00000367167p.A225Ac.675G>ASubstitution - coding silent
RBBP5ENSG00000117222ENST00000264515p.R486Qc.1457G>ASubstitution - Missense
XM_290898p.Q381Hc.1143G>TSubstitution - Missense
PM20D1ENSG00000162877ENST00000367136p.P233Hc.698C>ASubstitution - Missense
ENST00000375089p.P411Pc.1233T>CSubstitution - coding silent
XM_046751.7p.D170Dc.510C>TSubstitution - coding silent
LAX1ENSG00000122188ENST00000442561p.V194Vc.582C>TSubstitution - coding silent
LAX1ENSG00000122188ENST00000367217p.V178Vc.534C>TSubstitution - coding silent
SOX13ENSG00000143842ENST00000367204p.E585fs*5c.1752_1753insGInsertion - Frameshift
PLEKHA6ENSG00000143850ENST00000272203p.R1004Cc.3010C>TSubstitution - Missense
MDM4ENSG00000198625ENST00000367182p.N281fs*10c.837delADeletion - Frameshift
MDM4ENSG00000198625ENST00000367179p.N166fs*10c.492delADeletion - Frameshift
LRRN2ENSG00000170382ENST00000367175p.L100Mc.298C>ASubstitution - Missense
NFASCENSG00000163531ENST00000360049p.N157fs*14c.469delADeletion - Frameshift
NAV1ENSG00000134369ENST00000367296p.R1581Cc.4741C>TSubstitution - Missense
RNPEPENSG00000176393ENST00000295640p.T532Tc.1596C>ASubstitution - coding silent
KDM5BENSG00000117139ENST00000367265p.T992Mc.2975C>TSubstitution - Missense
DCST1ENSG00000163357ENST00000295542p.T96Ic.287C>TSubstitution - Missense
RIT1ENSG00000143622ENST00000368323p.K115Kc.345A>GSubstitution - coding silent
ARHGEF2ENSG00000116584ENST00000313695p.?c.641-6C>AUnknown
GSE1ENSG00000131149ENST00000253458p.S212fs*3c.628delCDeletion - Frameshift
ARHGAP27ENSG00000159314ENST00000376922p.R515Wc.1543C>TSubstitution - Missense
PKD1L2ENSG00000166473ENST00000337114p.R683Rc.2047A>CSubstitution - coding silent
CDH13ENSG00000140945ENST00000431540p.H102fs*9c.299delCDeletion - Frameshift
ENST00000268613_v61p.H102fs*9c.299delCDeletion - Frameshift
HSDL1ENSG00000103160ENST00000219439p.I178Tc.533T>CSubstitution - Missense
MON1BENSG00000103111ENST00000248248p.E189fs*29c.565_566insGInsertion - Frameshift
ADAMTS18ENSG00000140873ENST00000282849p.I956Tc.2867T>CSubstitution - Missense
ZFP1ENSG00000184517ENST00000393430p.Q182Qc.546A>GSubstitution - coding silent
OSMRENSG00000145623ENST00000274276p.I807Tc.2420T>CSubstitution - Missense
FYBENSG00000082074ENST00000505428p.E695Ec.2085A>GSubstitution - coding silent
FYBENSG00000082074ENST00000351578p.E649Ec.1947A>GSubstitution - coding silent
FYBENSG00000082074ENST00000505428p.P325fs*44c.972delGDeletion - Frameshift
FYBENSG00000082074ENST00000512982p.P325fs*44c.972delGDeletion - Frameshift
BAHD1ENSG00000140320ENST00000416165p.R639*c.1915C>TSubstitution - Nonsense
RPUSD2ENSG00000166133ENST00000315616p.I383Vc.1147A>GSubstitution - Missense
RPAP1ENSG00000103932ENST00000304330p.R1158Wc.3472C>TSubstitution - Missense
RAD1ENSG00000113456ENST00000382038p.G97Gc.291A>GSubstitution - coding silent
DNAJC21ENSG00000168724ENST00000382021p.A412Tc.1234G>ASubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.?c.10996-7C>AUnknown
AVENENSG00000169857ENST00000306730p.N336fs*25c.1007delADeletion - Frameshift
ZNF770ENSG00000198146ENST00000356321p.Y395Cc.1184A>GSubstitution - Missense
THBS1ENSG00000137801ENST00000260356p.P443Pc.1329G>TSubstitution - coding silent
NM_022459.3p.Q446Qc.1338G>ASubstitution - coding silent
LATS2ENSG00000150457ENST00000382592p.L914fs*10c.2741delTDeletion - Frameshift
SKA3ENSG00000165480ENST00000314759p.F263fs*32c.789delTDeletion - Frameshift
NM_014363.3p.E2906Ec.8718G>ASubstitution - coding silent
TPTE2ENSG00000132958ENST00000400230p.C411Cc.1233T>CSubstitution - coding silent
TPTE2ENSG00000132958ENST00000390680p.C334Cc.1002T>CSubstitution - coding silent
DYNC1H1ENSG00000197102ENST00000360184p.R2927Cc.8779C>TSubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.V1640Ac.4919T>CSubstitution - Missense
TMEM201ENSG00000188807ENST00000340381p.R105Rc.315C>TSubstitution - coding silent
TMEM201ENSG00000188807ENST00000340305p.R105Rc.315C>TSubstitution - coding silent
DPYDENSG00000188641ENST00000370192p.K1014Rc.3041A>GSubstitution - Missense
PIK3CDENSG00000171608ENST00000377346p.N780Nc.2340C>TSubstitution - coding silent
HHIPL1ENSG00000182218ENST00000357223p.G324Rc.970G>ASubstitution - Missense
EML1ENSG00000066629ENST00000334192p.R766Wc.2296C>TSubstitution - Missense
WDR25ENSG00000176473ENST00000335290p.G247fs*72c.737delGDeletion - Frameshift
GBP6ENSG00000183347ENST00000370456p.K620Nc.1860A>CSubstitution - Missense
GPR157ENSG00000180758ENST00000377411p.V137Mc.409G>ASubstitution - Missense
GLCEENSG00000138604ENST00000261858p.V25Ac.74T>CSubstitution - Missense
CT62ENSG00000225362ENST00000449977p.C69*c.207T>ASubstitution - Nonsense
CLPXENSG00000166855ENST00000300107p.R480Cc.1438C>TSubstitution - Missense
ZWILCHENSG00000174442ENST00000307897p.S335Sc.1005C>TSubstitution - coding silent
VPS13CENSG00000129003ENST00000395896p.L29Pc.86T>CSubstitution - Missense
TPM1ENSG00000140416ENST00000358278p.E122Gc.365A>GSubstitution - Missense
TPM1ENSG00000140416ENST00000267996p.E122Gc.365A>GSubstitution - Missense
TPM1ENSG00000140416ENST00000334895p.E86Gc.257A>GSubstitution - Missense
ZNF609ENSG00000180357ENST00000326648p.P881Sc.2641C>TSubstitution - Missense
RBPMS2ENSG00000166831ENST00000300069p.?c.567+5G>AUnknown
CCDC88CENSG00000015133ENST00000389857p.V588Mc.1762G>ASubstitution - Missense
PTPN21ENSG00000070778ENST00000328736p.A659Tc.1975G>ASubstitution - Missense
SYT16ENSG00000139973ENST00000430451p.R533Qc.1598G>ASubstitution - Missense
FUT8ENSG00000033170ENST00000360689p.R403fs*12c.1201delADeletion - Frameshift
DHRS7ENSG00000100612ENST00000216500p.C204Yc.611G>ASubstitution - Missense
FBXO34ENSG00000178974ENST00000313833p.N399fs*9c.1192delADeletion - Frameshift
TMEM260ENSG00000070269ENST00000261556p.A245Tc.733G>ASubstitution - Missense
TMEM260ENSG00000070269ENST00000261556p.?c.1779-4C>AUnknown
FAM73AENSG00000180488ENST00000370791p.C614Yc.1841G>ASubstitution - Missense
GIPC2ENSG00000137960ENST00000370759p.A283Ac.849T>CSubstitution - coding silent
LPHN2ENSG00000117114ENST00000370725p.T851Tc.2553C>ASubstitution - coding silent
TTLL7ENSG00000137941ENST00000260505p.G229Dc.686G>ASubstitution - Missense
SLC44A5ENSG00000137968ENST00000370859p.V458Ic.1372G>ASubstitution - Missense
ACADMENSG00000117054ENST00000370841p.*422fs?c.1265_1266delAADeletion - Frameshift
ARMCX1ENSG00000126947ENST00000372829p.R188Wc.562C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.R9719Cc.29155C>TSubstitution - Missense
BICD2ENSG00000185963ENST00000356884p.D269Nc.805G>ASubstitution - Missense
WNK2ENSG00000165238ENST00000297954p.A678Tc.2032G>ASubstitution - Missense
SU_WNK2p.A664Tc.1990G>ASubstitution - Missense
PTBP1ENSG00000011304ENST00000356948p.E401delEc.1199_1201delAGGDeletion - In frame
MYO1FENSG00000142347ENST00000338257p.G18Sc.52G>ASubstitution - Missense
ACTL9ENSG00000181786ENST00000324436p.R360Cc.1078C>TSubstitution - Missense
MED16ENSG00000175221ENST00000325464p.S343Sc.1029G>ASubstitution - coding silent
C3ENSG00000125730ENST00000245907p.G310Rc.928G>ASubstitution - Missense
INSRENSG00000171105ENST00000302850p.P918Lc.2753C>TSubstitution - Missense
INSRENSG00000171105ENST00000302850p.D716Dc.2148C>TSubstitution - coding silent
FRMD7ENSG00000165694ENST00000298542p.S33Nc.98G>ASubstitution - Missense
MBNL3ENSG00000076770ENST00000370853p.A345Tc.1033G>ASubstitution - Missense
MBNL3ENSG00000076770ENST00000370839p.A310Tc.928G>ASubstitution - Missense
GPC4ENSG00000076716ENST00000370828p.L248Lc.744G>ASubstitution - coding silent
FAM127CENSG00000212747ENST00000391440p.K9Ec.25A>GSubstitution - Missense
ENST00000215591p.A635Tc.1903G>ASubstitution - Missense
POLRMTENSG00000099821ENST00000588649p.A650Tc.1948G>ASubstitution - Missense
MLLT1ENSG00000130382ENST00000252674p.A330Sc.988G>TSubstitution - Missense
GTF2F1ENSG00000125651ENST00000394456p.P292Lc.875C>TSubstitution - Missense
DENND1CENSG00000205744ENST00000381480p.S653Pc.1957T>CSubstitution - Missense
ENST00000429478p.?c.1257+5_1257+8deltttcUnknown
RBMXL3ENSG00000175718ENST00000424776p.G792Rc.2374G>ASubstitution - Missense
KLHL13ENSG00000003096ENST00000262820p.T167Tc.501G>ASubstitution - coding silent
UPF3BENSG00000125351ENST00000276201p.T419fs*2c.1255_1256insAInsertion - Frameshift
CUL4BENSG00000158290ENST00000371322p.L290fs*5c.862_863insTInsertion - Frameshift
CUL4BENSG00000158290ENST00000404115p.L308fs*5c.916_917insTInsertion - Frameshift
CT47B1ENSG00000236446ENST00000371311p.V123Vc.369G>TSubstitution - coding silent
OTTHUMT00000058153.1p.E848fs*14c.2541_2542insAInsertion - Frameshift
RGAG1ENSG00000243978ENST00000465301p.M143_T144>Ic.429_431delGACComplex - deletion inframe
TRPC5ENSG00000072315ENST00000262839p.A31Vc.92C>TSubstitution - Missense
C8orf44ENSG00000213865ENST00000519561p.I73Vc.217A>GSubstitution - Missense
MCM4ENSG00000104738ENST00000523944p.R797Wc.2389C>TSubstitution - Missense
ST18ENSG00000147488ENST00000276480p.T376Tc.1128G>ASubstitution - coding silent
TGS1ENSG00000137574ENST00000260129p.G559fs*35c.1669delADeletion - Frameshift
FN1ENSG00000115414ENST00000354785p.R379*c.1135C>TSubstitution - Nonsense
FN1ENSG00000115414ENST00000336916p.R379*c.1135C>TSubstitution - Nonsense
ERBB4ENSG00000178568ENST00000342788p.L1227Mc.3679C>ASubstitution - Missense
ERBB4ENSG00000178568ENST00000402597p.L1217Mc.3649C>ASubstitution - Missense
ERBB4ENSG00000178568ENST00000342788p.I1226Tc.3677T>CSubstitution - Missense
STAT4ENSG00000138378ENST00000358470p.C680Cc.2040C>TSubstitution - coding silent
MYT1LENSG00000186487ENST00000399161p.G1011Gc.3033A>TSubstitution - coding silent
ASNSD1ENSG00000138381ENST00000260952p.F137Ic.409T>ASubstitution - Missense
DNAJC10ENSG00000077232ENST00000264065p.P639fs*22c.1912delCDeletion - Frameshift
SCP2D1ENSG00000132631ENST00000377428p.M33Ic.99G>ASubstitution - Missense
RIN2ENSG00000132669ENST00000255006p.R565Hc.1694G>ASubstitution - Missense
NM_018993.2p.R516Hc.1547G>ASubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.G678Gc.2034C>TSubstitution - coding silent
RALGAPA2ENSG00000188559ENST00000202677p.G167fs*15c.500delGDeletion - Frameshift
OLFM2ENSG00000105088ENST00000264833p.P305Lc.914C>TSubstitution - Missense
MACROD2ENSG00000172264ENST00000378058p.N48Sc.143A>GSubstitution - Missense
COL1A1ENSG00000108821ENST00000225964p.V68Ac.203T>CSubstitution - Missense
EPN3ENSG00000049283ENST00000268933p.R63Wc.187C>TSubstitution - Missense
CDK5RAP3ENSG00000108465ENST00000338399p.R158Wc.472C>TSubstitution - Missense
NFE2L1ENSG00000082641ENST00000362042p.T145Tc.435G>ASubstitution - coding silent
HOXB9ENSG00000170689ENST00000311177p.F28Lc.82T>CSubstitution - Missense
GLTPD2ENSG00000182327ENST00000331264p.?c.171+10G>AUnknown
PLD2ENSG00000129219ENST00000263088p.D554Ec.1662C>ASubstitution - Missense
NGFRENSG00000064300ENST00000172229p.P163Qc.488C>ASubstitution - Missense
FAM117AENSG00000121104ENST00000240364p.?c.910+10G>AUnknown
COL1A1ENSG00000108821ENST00000225964p.D1104Nc.3310G>ASubstitution - Missense
RPRMLENSG00000179673ENST00000322329p.V75Vc.225G>ASubstitution - coding silent
KCNG4ENSG00000168418ENST00000308251p.R343Cc.1027C>TSubstitution - Missense
ZNF800ENSG00000048405ENST00000393313p.R247Cc.739C>TSubstitution - Missense
GNASENSG00000087460ENST00000371100p.?c.2647+4G>TUnknown
GNASENSG00000087460ENST00000371085p.?c.718+4G>TUnknown
PPP1R3DENSG00000132825ENST00000370996p.Y259Cc.776A>GSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.S1032Yc.3095C>ASubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.S1032Yc.3095C>ASubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.V1214Vc.3642T>CSubstitution - coding silent
TSHZ2ENSG00000182463ENST00000371497p.R259Mc.776G>TSubstitution - Missense
CBLN4ENSG00000054803ENST00000064571p.Q97Hc.291G>TSubstitution - Missense
GPCPD1ENSG00000125772ENST00000379019p.Y292fs*1c.876_879delTATADeletion - Frameshift
SPO11ENSG00000054796ENST00000371263p.L24Lc.70C>TSubstitution - coding silent
APCDD1LENSG00000198768ENST00000371149p.S82fs*279c.243delCDeletion - Frameshift
TMEM189ENSG00000240849ENST00000371652p.N136Sc.407A>GSubstitution - Missense
ATP9AENSG00000054793ENST00000338821p.R917Qc.2750G>ASubstitution - Missense
SALL4ENSG00000101115ENST00000217086p.V995fs*14c.2983delGDeletion - Frameshift
C20orf24ENSG00000101084ENST00000344795p.I71Vc.211A>GSubstitution - Missense
SLA2ENSG00000101082ENST00000262866p.R135Hc.404G>ASubstitution - Missense
ENST00000237536_v68p.R682Wc.2044C>TSubstitution - Missense
SOGA1ENSG00000149639ENST00000237536p.R682Wc.2044C>TSubstitution - Missense
RALGAPBENSG00000170471ENST00000397040p.L687Lc.2059T>CSubstitution - coding silent
PIGUENSG00000101464ENST00000217446p.A324Tc.970G>ASubstitution - Missense
KLK2ENSG00000167751ENST00000325321p.P37Pc.111C>ASubstitution - coding silent
KLK2ENSG00000167751ENST00000325321p.G87Cc.259G>TSubstitution - Missense
PNKPENSG00000039650ENST00000322344p.?c.1189-10G>AUnknown
POLD1ENSG00000062822ENST00000440232p.P116fs*53c.343delCDeletion - Frameshift
MYBPC2ENSG00000086967ENST00000357701p.K466Kc.1398A>GSubstitution - coding silent
PPFIA3ENSG00000177380ENST00000334186p.?c.1520+2T>CUnknown
TEAD2ENSG00000074219ENST00000311227p.F236Fc.708C>TSubstitution - coding silent
SCAF1ENSG00000126461ENST00000360565p.R321Hc.962G>ASubstitution - Missense
AP2A1ENSG00000196961ENST00000359032p.C225Cc.675C>TSubstitution - coding silent
AP2A1ENSG00000196961ENST00000359032p.V483Ic.1447G>ASubstitution - Missense
AP2A1ENSG00000196961ENST00000359032p.Y954Cc.2861A>GSubstitution - Missense
TDRD12ENSG00000173809ENST00000444215p.F125fs*14c.372_373insAInsertion - Frameshift
TDRD12ENSG00000173809ENST00000444215p.S420Lc.1259C>TSubstitution - Missense
KCTD15ENSG00000153885ENST00000284006p.L47fs*36c.135delCDeletion - Frameshift
TMPRSS9ENSG00000178297ENST00000332578p.G568Rc.1702G>ASubstitution - Missense
SLC39A3ENSG00000141873ENST00000269740p.G140Gc.420C>GSubstitution - coding silent
POP4ENSG00000105171ENST00000221770p.K72delKc.203_205delAGADeletion - In frame
ENST00000327867p.I194fs*167c.574delADeletion - Frameshift
ENGASEENSG00000167280ENST00000579016p.S403Sc.1209C>ASubstitution - coding silent
ENST00000300671p.R3418Hc.10253G>ASubstitution - Missense
ENST00000300671p.S2457Lc.7370C>TSubstitution - Missense
ENST00000300671p.V1260Ic.3778G>ASubstitution - Missense
EVPLENSG00000167880ENST00000301607p.A733Tc.2197G>ASubstitution - Missense
POLR2AENSG00000181222ENST00000322644p.R1260Lc.3779G>TSubstitution - Missense
JMJD6ENSG00000070495ENST00000445478p.S340Sc.1020C>TSubstitution - coding silent
JMJD6ENSG00000070495ENST00000397625p.S340Sc.1020C>TSubstitution - coding silent
ENST00000450721p.R100Cc.298C>TSubstitution - Missense
ITGB4ENSG00000132470ENST00000200181p.T776Tc.2328G>ASubstitution - coding silent
RASD1ENSG00000108551ENST00000225688p.Q212*c.634C>TSubstitution - Nonsense
TOM1L2ENSG00000175662ENST00000379504p.A202Tc.604G>ASubstitution - Missense
RPA1ENSG00000132383ENST00000254719p.F222fs*3c.662delTDeletion - Frameshift
TRIM16ENSG00000221926ENST00000578237p.R271Tc.812G>CSubstitution - Missense
PRPF8ENSG00000174231ENST00000304992p.I122Tc.365T>CSubstitution - Missense
COL4A6ENSG00000197565ENST00000334504p.G382Sc.1144G>ASubstitution - Missense
COL4A6ENSG00000197565ENST00000394872p.G383Sc.1147G>ASubstitution - Missense
COL4A6ENSG00000197565ENST00000334504p.E77*c.229G>TSubstitution - Nonsense
IRS4ENSG00000133124ENST00000372129p.D174Dc.522C>TSubstitution - coding silent
HS3ST3A1ENSG00000153976ENST00000284110p.S282Sc.846G>ASubstitution - coding silent
INPP5KENSG00000132376ENST00000320345p.R90Wc.268C>TSubstitution - Missense
GPRASP1ENSG00000198932ENST00000415986p.F1281Sc.3842T>CSubstitution - Missense
GPRASP2ENSG00000158301ENST00000543253p.A233Ac.699G>ASubstitution - coding silent
MORC4ENSG00000133131ENST00000355610p.I418Tc.1253T>CSubstitution - Missense
NM_024657.2p.I241Tc.722T>CSubstitution - Missense
COLEC12ENSG00000158270ENST00000400256p.T255Tc.765G>ASubstitution - coding silent
ASXL3ENSG00000141431ENST00000269197p.F2229Cc.6686T>GSubstitution - Missense
DSC2ENSG00000134755ENST00000280904p.L423Lc.1269G>ASubstitution - coding silent
DSC2ENSG00000134755ENST00000251081p.L423Lc.1269G>ASubstitution - coding silent
ARHGDIAENSG00000141522ENST00000269321p.G168Gc.504T>CSubstitution - coding silent
MAFGENSG00000197063ENST00000357736p.R35Wc.103C>TSubstitution - Missense
ENST00000445854p.V134Ic.400G>ASubstitution - Missense
HEXDCENSG00000169660ENST00000337014p.R189Lc.566G>TSubstitution - Missense
RNF213ENSG00000173821ENST00000336301p.P2394Pc.7182A>GSubstitution - coding silent
ENST00000411702p.P4370Pc.13110A>GSubstitution - coding silent
ENST00000436173p.S2042fs*13c.6119delCDeletion - Frameshift
GAAENSG00000171298ENST00000390015p.A300Ac.900G>ASubstitution - coding silent
RNF213ENSG00000173821ENST00000336301p.F1812Fc.5436C>TSubstitution - coding silent
TNFAIP1ENSG00000109079ENST00000226225p.E100Dc.300A>TSubstitution - Missense
SGSM2ENSG00000141258ENST00000268989p.A243Ac.729C>ASubstitution - coding silent
CLUHENSG00000132361ENST00000435359p.Y1120Yc.3360C>TSubstitution - coding silent
CLUHENSG00000132361ENST00000435359p.Y1120Yc.3360C>TSubstitution - coding silent
CLUHENSG00000132361ENST00000435359p.P973Lc.2918C>TSubstitution - Missense
CLUHENSG00000132361ENST00000435359p.P973Lc.2918C>TSubstitution - Missense
CEP112ENSG00000154240ENST00000392769p.S450Sc.1350T>CSubstitution - coding silent
CEP112ENSG00000154240ENST00000535342p.S450Sc.1350T>CSubstitution - coding silent
KIAA0753ENSG00000198920ENST00000361413p.R221*c.661C>TSubstitution - Nonsense
TEX2ENSG00000136478ENST00000258991p.A409Ac.1227C>TSubstitution - coding silent
NCBP1ENSG00000136937ENST00000375147p.A772Vc.2315C>TSubstitution - Missense
APPBP2ENSG00000062725ENST00000083182p.A420fs*23c.1257delADeletion - Frameshift
TBX4ENSG00000121075ENST00000240335p.?c.703-7C>TUnknown
KIAA1429ENSG00000164944ENST00000421249p.T1009Ic.3026C>TSubstitution - Missense
ESRP1ENSG00000104413ENST00000358397p.G355fs*33c.1060delGDeletion - Frameshift
PTDSS1ENSG00000156471ENST00000517309p.L198Pc.593T>CSubstitution - Missense
RIPK2ENSG00000104312ENST00000220751p.?c.1029+3_1029+15delaaaaaaaaaaaaaUnknown
RUNX1T1ENSG00000079102ENST00000360348p.V453Vc.1359C>TSubstitution - coding silent
RBM12BENSG00000183808ENST00000399300p.P569fs*91c.1706delCDeletion - Frameshift
KIF13BENSG00000197892ENST00000524189p.T1520Tc.4560G>TSubstitution - coding silent
KIF13BENSG00000197892ENST00000524189p.T1520Tc.4560G>TSubstitution - coding silent
KIF13BENSG00000197892ENST00000524189p.?c.834-8C>TUnknown
KIF13BENSG00000197892ENST00000524189p.?c.834-8C>TUnknown
STMN4ENSG00000015592ENST00000350889p.S90Sc.270C>ASubstitution - coding silent
BMP1ENSG00000168487ENST00000306349p.R484Hc.1451G>ASubstitution - Missense
THOC7ENSG00000163634ENST00000295899p.T56Mc.167C>TSubstitution - Missense
ADAMTS9ENSG00000163638ENST00000498707p.R771*c.2311C>TSubstitution - Nonsense
APPL1ENSG00000157500ENST00000288266p.D362fs*3c.1083_1084insAInsertion - Frameshift
ENST00000295941p.?c.48+1G>AUnknown
C3orf67ENSG00000163689ENST00000295966p.T460Ac.1378A>GSubstitution - Missense
TJP2ENSG00000119139ENST00000377245p.D427Nc.1279G>ASubstitution - Missense
TJP2ENSG00000119139ENST00000265384p.D427Nc.1279G>ASubstitution - Missense
TRPM3ENSG00000083067ENST00000377110p.G659Sc.1975G>ASubstitution - Missense
TRPM3ENSG00000083067ENST00000377106p.G531Sc.1591G>ASubstitution - Missense
TRPM3ENSG00000083067ENST00000377105p.G518Sc.1552G>ASubstitution - Missense
TRPM3ENSG00000083067ENST00000423814p.G663Sc.1987G>ASubstitution - Missense
FRMPD1ENSG00000070601ENST00000377765p.V512Ac.1535T>CSubstitution - Missense
GLIS3ENSG00000107249ENST00000381971p.P483Lc.1448C>TSubstitution - Missense
GLIS3ENSG00000107249ENST00000381971p.P345Pc.1035G>ASubstitution - coding silent
KIAA1432ENSG00000107036ENST00000381532p.R1209Rc.3627A>GSubstitution - coding silent
TLN1ENSG00000137076ENST00000314888p.N1453Sc.4358A>GSubstitution - Missense
TLN1ENSG00000137076ENST00000314888p.?c.3879+2T>CUnknown
UBAP1ENSG00000165006ENST00000545103p.T361Tc.1083G>ASubstitution - coding silent
UBAP1ENSG00000165006ENST00000359544p.T297Tc.891G>ASubstitution - coding silent
FANCGENSG00000221829ENST00000378643p.S230Sc.690C>TSubstitution - coding silent
C9orf72ENSG00000147894ENST00000380003p.F462fs*9c.1385_1386delTTDeletion - Frameshift
ACO1ENSG00000122729ENST00000379923p.R48Wc.142C>TSubstitution - Missense
SND1ENSG00000197157ENST00000354725p.H839fs*18c.2511delCDeletion - Frameshift
TNPO3ENSG00000064419ENST00000393245p.Y882fs*25c.2643delCDeletion - Frameshift
PLXNA4ENSG00000221866ENST00000321063p.R1074Hc.3221G>ASubstitution - Missense
ASB15ENSG00000146809ENST00000451558p.A244Ac.732G>ASubstitution - coding silent
LTN1ENSG00000198862ENST00000361371p.F413fs*7c.1239delTDeletion - Frameshift
RWDD2BENSG00000156253ENST00000493196p.L152Vc.454C>GSubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.R1042Hc.3125G>ASubstitution - Missense
KRTAP4-5ENSG00000198271ENST00000343246p.S59_S74>11c.174_221>33Unknown
KRT33AENSG00000006059ENST00000007735p.L127Pc.380T>CSubstitution - Missense
CXADRENSG00000154639ENST00000284878p.P185Sc.553C>TSubstitution - Missense
TMPRSS15ENSG00000154646ENST00000284885p.N682fs*24c.2036_2037insTInsertion - Frameshift
CWC25ENSG00000108296ENST00000225428p.G331Rc.991G>ASubstitution - Missense
LPCAT2ENSG00000087253ENST00000262134p.N297fs*13c.884delADeletion - Frameshift
MT4ENSG00000102891ENST00000219162p.P40fs*>23c.114delCDeletion - Frameshift
SEPT12ENSG00000140623ENST00000268231p.F247fs*4c.741delTDeletion - Frameshift
UBN1ENSG00000118900ENST00000396658p.A745Vc.2234C>TSubstitution - Missense
ZNF423ENSG00000102935ENST00000262383p.C891Yc.2672G>ASubstitution - Missense
ZNF423ENSG00000102935ENST00000262383p.L826Lc.2478G>ASubstitution - coding silent
ABCC12ENSG00000140798ENST00000311303p.S199Sc.597C>TSubstitution - coding silent
RUFY3ENSG00000018189ENST00000381006p.A437Vc.1310C>TSubstitution - Missense
SLC4A4ENSG00000080493ENST00000340595p.?c.1365+6T>CUnknown
PCGF3ENSG00000185619ENST00000362003p.N12Nc.36C>TSubstitution - coding silent
COX18ENSG00000163626ENST00000295890p.V288Mc.862G>ASubstitution - Missense
NM_032217.3p.E703Dc.2109A>CSubstitution - Missense
AFPENSG00000081051ENST00000395792p.A410Vc.1229C>TSubstitution - Missense
AFMENSG00000079557ENST00000226355p.C77Cc.231T>CSubstitution - coding silent
TMPRSS11FENSG00000198092ENST00000356291p.A265Ac.795A>GSubstitution - coding silent
SULT1B1ENSG00000173597ENST00000310613p.I31Nc.92T>ASubstitution - Missense
ROBO1ENSG00000169855ENST00000495273p.T534fs*35c.1601_1602delCADeletion - Frameshift
CADM2ENSG00000175161ENST00000405615p.T291Mc.872C>TSubstitution - Missense
CGGBP1ENSG00000163320ENST00000462901p.R3Qc.8G>ASubstitution - Missense
EPHA3ENSG00000044524ENST00000336596p.E647fs*7c.1938_1939insAInsertion - Frameshift
SEMA4CENSG00000168758ENST00000305476p.R366Wc.1096C>TSubstitution - Missense
CNTN3ENSG00000113805ENST00000263665p.A864Vc.2591C>TSubstitution - Missense
FRG2CENSG00000172969ENST00000308062p.T122Rc.365C>GSubstitution - Missense
ROBO2ENSG00000185008ENST00000461745p.P525Sc.1573C>TSubstitution - Missense
ROBO2ENSG00000185008ENST00000487694p.P541Sc.1621C>TSubstitution - Missense
ADAM17ENSG00000151694ENST00000310823p.E422Kc.1264G>ASubstitution - Missense
ADRA2BENSG00000222040ENST00000409345p.S321Nc.962G>ASubstitution - Missense
ADRA2BENSG00000222040ENST00000409345p.S321Nc.962G>ASubstitution - Missense
ADRA2BENSG00000222040ENST00000409345p.A117Vc.350C>TSubstitution - Missense
ATOH8ENSG00000168874ENST00000306279p.R238Gc.712A>GSubstitution - Missense
RMND5AENSG00000153561ENST00000283632p.W110*c.330G>ASubstitution - Nonsense
KIDINS220ENSG00000134313ENST00000256707p.E1546Kc.4636G>ASubstitution - Missense
COL18A1ENSG00000182871ENST00000355480p.R1046Cc.3136C>TSubstitution - Missense
COL6A1ENSG00000142156ENST00000361866p.E423fs*82c.1259delCDeletion - Frameshift
RSPH1ENSG00000160188ENST00000291536p.Y48Yc.144C>TSubstitution - coding silent
TRAPPC10ENSG00000160218ENST00000291574p.Q973Qc.2919G>ASubstitution - coding silent
TRPM2ENSG00000142185ENST00000397928p.T1059Mc.3176C>TSubstitution - Missense
BACE2ENSG00000182240ENST00000330333p.A387Gc.1160C>GSubstitution - Missense
MX1ENSG00000157601ENST00000398598p.R408*c.1222C>TSubstitution - Nonsense
PRDM15ENSG00000141956ENST00000269844p.?c.413+1G>TUnknown
C2CD2ENSG00000157617ENST00000380486p.V374Vc.1122G>CSubstitution - coding silent
ZBTB21ENSG00000173276ENST00000398499p.I838Ic.2514C>TSubstitution - coding silent
UMODL1ENSG00000177398ENST00000408989p.V495Mc.1483G>ASubstitution - Missense
UMODL1ENSG00000177398ENST00000400424p.V423Mc.1267G>ASubstitution - Missense
TRMT1ENSG00000104907ENST00000357720p.A343Vc.1028C>TSubstitution - Missense
BRWD1ENSG00000185658ENST00000333229p.T1816fs*6c.5439_5440insAInsertion - Frameshift
BRWD1ENSG00000185658ENST00000342449p.T1816fs*6c.5439_5440insAInsertion - Frameshift
ZNF791ENSG00000173875ENST00000343325p.A22Vc.65C>TSubstitution - Missense
MAST1ENSG00000105613ENST00000251472p.G386Gc.1158C>TSubstitution - coding silent
MAST1ENSG00000105613ENST00000251472p.G386Gc.1158C>TSubstitution - coding silent
ELOF1ENSG00000130165ENST00000252445p.R41Cc.121C>TSubstitution - Missense
CARM1ENSG00000142453ENST00000327064p.P589Hc.1766C>ASubstitution - Missense
CARM1ENSG00000142453ENST00000327064p.P589Pc.1767C>GSubstitution - coding silent
CARM1ENSG00000142453ENST00000327064p.S595*c.1784C>ASubstitution - Nonsense
SMARCA4ENSG00000127616ENST00000358026p.N772_L773insNc.2316_2317insAACInsertion - In frame
SMARCA4ENSG00000127616ENST00000429416p.N772_L773insNc.2316_2317insAACInsertion - In frame
MC5RENSG00000176136ENST00000324750p.C173Yc.518G>ASubstitution - Missense
MPPE1ENSG00000154889ENST00000309976p.?c.1008+5C>TUnknown
TCF4ENSG00000196628ENST00000398339p.S586fs*3c.1756_1757insTInsertion - Frameshift
NARSENSG00000134440ENST00000256854p.M34Ic.102G>ASubstitution - Missense
ATP8B1ENSG00000081923ENST00000283684p.A1239Ac.3717G>ASubstitution - coding silent
PHLPP1ENSG00000081913ENST00000262719p.C930Cc.2790T>CSubstitution - coding silent
MBD1ENSG00000141644ENST00000269471p.R30Cc.88C>TSubstitution - Missense
MBD1ENSG00000141644ENST00000339998p.R30Cc.88C>TSubstitution - Missense
HAUS1ENSG00000152240ENST00000282058p.K59Kc.177G>ASubstitution - coding silent
NM_007332.1p.A685Sc.2053G>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.Q1438Qc.4314G>ASubstitution - coding silent
MTUS1ENSG00000129422ENST00000262102p.A218Tc.652G>ASubstitution - Missense
PCM1ENSG00000078674ENST00000325083p.P878Lc.2633C>TSubstitution - Missense
PSD3ENSG00000156011ENST00000327040p.Y621Hc.1861T>CSubstitution - Missense
EYA1ENSG00000104313ENST00000388742p.D371Dc.1113C>TSubstitution - coding silent
NM_004260.1p.D835Nc.2503G>ASubstitution - Missense
LRRC14ENSG00000160959ENST00000292524p.Y483Yc.1449C>TSubstitution - coding silent
ARHGAP39ENSG00000147799ENST00000377307p.V332fs*52c.994delGDeletion - Frameshift
FBXL6ENSG00000182325ENST00000331890p.R114Hc.341G>ASubstitution - Missense
ADCK5ENSG00000173137ENST00000308860p.P372Pc.1116G>ASubstitution - coding silent
EPPK1ENSG00000227184ENST00000525985p.L2172Lc.6516G>ASubstitution - coding silent
PLECENSG00000178209ENST00000322810p.L2866Lc.8598G>ASubstitution - coding silent
CYP11B2ENSG00000179142ENST00000323110p.P334Pc.1002C>TSubstitution - coding silent
NAPRT1ENSG00000147813ENST00000449291p.T409Tc.1227C>TSubstitution - coding silent
PYCRLENSG00000104524ENST00000220966p.A260Tc.778G>ASubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.A747Vc.2240C>TSubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.A875Vc.2624C>TSubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.A1014Tc.3040G>ASubstitution - Missense
SAMD9ENSG00000205413ENST00000379958p.A1583Vc.4748C>TSubstitution - Missense
SAMD9ENSG00000205413ENST00000379958p.F272fs*127c.816delTDeletion - Frameshift
TRPV5ENSG00000127412ENST00000265310p.F508Lc.1522T>CSubstitution - Missense
MTERFENSG00000127989ENST00000351870p.R190Hc.569G>ASubstitution - Missense
ETV1ENSG00000006468ENST00000403527p.P107Sc.319C>TSubstitution - Missense
BRAFENSG00000157764ENST00000288602p.A115Vc.344C>TSubstitution - Missense
MGAMENSG00000257335ENST00000475668p.G1175Gc.3525G>ASubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.G1175Gc.3525G>ASubstitution - coding silent
TBXAS1ENSG00000059377ENST00000416849p.M283Tc.848T>CSubstitution - Missense
TBXAS1ENSG00000059377ENST00000263552p.M237Tc.710T>CSubstitution - Missense
HIST1H3FENSG00000256316ENST00000446824p.G14Dc.41G>ASubstitution - Missense
CALD1ENSG00000122786ENST00000393118p.R475Cc.1423C>TSubstitution - Missense
LRRC16AENSG00000079691ENST00000329474p.R1122Wc.3364C>TSubstitution - Missense
SLC17A1ENSG00000124568ENST00000244527p.V159Ic.475G>ASubstitution - Missense
SLC17A2ENSG00000112337ENST00000360488p.R385Gc.1153A>GSubstitution - Missense
THBS2ENSG00000186340ENST00000366787p.Y1145Yc.3435C>TSubstitution - coding silent
WDR27ENSG00000184465ENST00000333572p.E161Kc.481G>ASubstitution - Missense
DLL1ENSG00000198719ENST00000366756p.R577Rc.1731G>CSubstitution - coding silent
RNF144BENSG00000137393ENST00000259939p.A11Tc.31G>ASubstitution - Missense
PHF7ENSG00000010318ENST00000327906p.K369Tc.1106A>CSubstitution - Missense
STAB1ENSG00000010327ENST00000321725p.Q1149*c.3445C>TSubstitution - Nonsense
TCP10L2ENSG00000166984ENST00000366832p.?c.769+6C>TUnknown
TCP10L2ENSG00000166984ENST00000366832p.?c.769+6C>TUnknown
DOCK3ENSG00000088538ENST00000266037p.P1852fs*45c.5549delCDeletion - Frameshift
CAMKVENSG00000164076ENST00000477224p.H50Hc.150C>TSubstitution - coding silent
ATP10DENSG00000145246ENST00000273859p.E730Kc.2188G>ASubstitution - Missense
FRYLENSG00000075539ENST00000503238p.Q653Qc.1959A>GSubstitution - coding silent
QRICH1ENSG00000198218ENST00000395443p.R507Cc.1519C>TSubstitution - Missense
USP19ENSG00000172046ENST00000434032p.R1287Rc.3861C>ASubstitution - coding silent
RHOAENSG00000067560ENST00000418115p.N109Nc.327C>TSubstitution - coding silent
RBM47ENSG00000163694ENST00000381795p.A493Vc.1478C>TSubstitution - Missense
TMEM33ENSG00000109133ENST00000504986p.S197Pc.589T>CSubstitution - Missense
DTHD1ENSG00000197057ENST00000456874p.?c.2024-7C>AUnknown
DTHD1ENSG00000197057ENST00000357504p.?c.1529-7C>AUnknown
IFNGR2ENSG00000159128ENST00000290219p.G183fs*20c.542delADeletion - Frameshift
DOPEY2ENSG00000142197ENST00000399151p.K1171Rc.3512A>GSubstitution - Missense
APRTENSG00000198931ENST00000378364p.C153Cc.459C>TSubstitution - coding silent
MTHFSDENSG00000103248ENST00000322911p.V85Ic.253G>ASubstitution - Missense
MTHFSDENSG00000103248ENST00000322911p.V54Ic.160G>ASubstitution - Missense
MAP1LC3BENSG00000140941ENST00000268607p.N84Nc.252C>TSubstitution - coding silent
OR2C1ENSG00000168158ENST00000304936p.A197Vc.590C>TSubstitution - Missense
CLUAP1ENSG00000103351ENST00000576634p.L203Fc.607C>TSubstitution - Missense
TRAP1ENSG00000126602ENST00000246957p.?c.1941-4G>AUnknown
SLC5A2ENSG00000140675ENST00000330498p.A278fs*30c.832delGDeletion - Frameshift
IRAK2ENSG00000134070ENST00000256458p.M543Vc.1627A>GSubstitution - Missense
ALCAMENSG00000170017ENST00000306107p.K153fs*34c.453delADeletion - Frameshift
CNGA3ENSG00000144191ENST00000272602p.R223Wc.667C>TSubstitution - Missense
GPR128ENSG00000144820ENST00000273352p.V16Mc.46G>ASubstitution - Missense
ZBTB11ENSG00000066422ENST00000312938p.?c.2469-1G>TUnknown
EMILIN1ENSG00000138080ENST00000380320p.S36Gc.106A>GSubstitution - Missense
EMILIN1ENSG00000138080ENST00000380320p.R463fs*46c.1386_1387insGInsertion - Frameshift
ACTR1BENSG00000115073ENST00000289228p.H284Dc.850C>GSubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.K1212Ec.3634A>GSubstitution - Missense
KIF1AENSG00000130294ENST00000320389p.L1621Pc.4862T>CSubstitution - Missense
NBEAL1ENSG00000144426ENST00000449802p.R2175Hc.6524G>ASubstitution - Missense
ICOSENSG00000163600ENST00000316386p.N177Nc.531C>TSubstitution - coding silent
ATAD2BENSG00000119778ENST00000238789p.A130Tc.388G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.?c.36578-6G>AUnknown
ENST00000356127p.?c.36578-6G>AUnknown
NM_003319p.L11935fs*24c.35804delTDeletion - Frameshift
TTNENSG00000155657ENST00000342992p.T17251Tc.51753T>CSubstitution - coding silent
ENST00000356127p.T17249Tc.51747T>CSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.T10946Tc.32838T>CSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.M16234Vc.48700A>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.M9862Vc.29584A>GSubstitution - Missense
ENST00000356127p.M16232Vc.48694A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.P16184Pc.48552G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.P9812Pc.29436G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.P9879Pc.29637G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.A28371Tc.85111G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.R26812Cc.80434C>TSubstitution - Missense
ENST00000356127p.R33182Cc.99544C>TSubstitution - Missense
NM_003319p.R26687Cc.80059C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.R31267Hc.93800G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.R24895Hc.74684G>ASubstitution - Missense
ENST00000356127p.R31265Hc.93794G>ASubstitution - Missense
NM_003319p.R24770Hc.74309G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.A24460Vc.73379C>TSubstitution - Missense
ITGA6ENSG00000091409ENST00000409080p.Q1079fs*10c.3234_3235insAInsertion - Frameshift
ATF2ENSG00000115966ENST00000264110p.N78fs*32c.233delADeletion - Frameshift
EVX2ENSG00000174279ENST00000308618p.?c.700-5C>TUnknown
ENST00000313266p.A43Tc.127G>ASubstitution - Missense
TBX1ENSG00000184058ENST00000332710p.G203Gc.609C>TSubstitution - coding silent
RANBP1ENSG00000099901ENST00000430524p.L88fs*9c.256delGDeletion - Frameshift
RTN4RENSG00000040608ENST00000043402p.H186Hc.558C>TSubstitution - coding silent
DGCR6LENSG00000128185ENST00000248879p.R108Wc.322C>TSubstitution - Missense
DIP2AENSG00000160305ENST00000417564p.R1266Gc.3796A>GSubstitution - Missense
CECR5ENSG00000069998ENST00000336737p.?c.747-3C>TUnknown
MICAL3ENSG00000243156ENST00000441493p.R1706Rc.5118C>TSubstitution - coding silent
ENST00000252134p.R84Rc.252C>TSubstitution - coding silent
MICAL3ENSG00000243156ENST00000441493p.D852Gc.2555A>GSubstitution - Missense
MICAL3ENSG00000243156ENST00000444520p.D852Gc.2555A>GSubstitution - Missense
MICAL3ENSG00000243156ENST00000207726p.D880Gc.2639A>GSubstitution - Missense
ENSG00000088899ENST00000329152p.V40Mc.118G>ASubstitution - Missense
TMEM150BENSG00000180061ENST00000326652p.R155Cc.463C>TSubstitution - Missense
VPS16ENSG00000215305ENST00000380443p.P3Pc.9C>GSubstitution - coding silent
NCR1ENSG00000189430ENST00000291890p.A149Ac.447A>GSubstitution - coding silent
ANKRD62ENSG00000181626ENST00000314074p.K466fs*5c.1390delADeletion - Frameshift
LDLRAD4ENSG00000168675ENST00000361205p.?c.337-5G>AUnknown
LDLRAD4ENSG00000168675ENST00000359446p.?c.226-5G>AUnknown
IDO1ENSG00000131203ENST00000522495p.?c.656-6T>GUnknown
ENST00000318252p.Y889Hc.2665T>CSubstitution - Missense
MEPEENSG00000152595ENST00000361056p.S503Tc.1508G>CSubstitution - Missense
HERC3ENSG00000138641ENST00000402738p.D518Ec.1554T>ASubstitution - Missense
FAM13AENSG00000138640ENST00000264344p.?c.1092-2A>GUnknown
FAM13AENSG00000138640ENST00000508369p.?c.114-2A>GUnknown
PRKG2ENSG00000138669ENST00000395578p.P751Sc.2251C>TSubstitution - Missense
PRKG2ENSG00000138669ENST00000395578p.P751Sc.2251C>TSubstitution - Missense
SH3TC1ENSG00000125089ENST00000245105p.F485delFc.1452_1454delCTTDeletion - In frame
SEC31AENSG00000138674ENST00000432794p.S556Ac.1666T>GSubstitution - Missense
FAM175AENSG00000163322ENST00000321945p.S296Sc.888A>GSubstitution - coding silent
AGPAT9ENSG00000138678ENST00000395226p.F97Lc.289T>CSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.A2772Ac.8316C>ASubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.A2772Ac.8316C>ASubstitution - coding silent
BMP2KENSG00000138756ENST00000335016p.V586Ac.1757T>CSubstitution - Missense
BANK1ENSG00000153064ENST00000322953p.R236Hc.707G>ASubstitution - Missense
SLC9B2ENSG00000164038ENST00000394785p.T424Ac.1270A>GSubstitution - Missense
SLC9B2ENSG00000164038ENST00000362026p.T424Ac.1270A>GSubstitution - Missense
ENST00000265148.1p.V162Vc.486G>TSubstitution - coding silent
FILIP1LENSG00000168386ENST00000354552p.D792Dc.2376T>CSubstitution - coding silent
ARL6ENSG00000113966ENST00000493990p.G29Gc.87C>TSubstitution - coding silent
OR5H15ENSG00000233412ENST00000356526p.L163fs*4c.489delADeletion - Frameshift
OGG1ENSG00000114026ENST00000302036p.F45Lc.135C>ASubstitution - Missense
OR5K3ENSG00000206536ENST00000383695p.F178fs*34c.528delTDeletion - Frameshift
ENST00000405167p.I821Tc.2462T>CSubstitution - Missense
VITENSG00000205221ENST00000379242p.Y554Hc.1660T>CSubstitution - Missense
BREENSG00000158019ENST00000344773p.S280Gc.838A>GSubstitution - Missense
BREENSG00000158019ENST00000342045p.S280Gc.838A>GSubstitution - Missense
BREENSG00000158019ENST00000379632p.S280Gc.838A>GSubstitution - Missense
C2orf71ENSG00000179270ENST00000331664p.P424Sc.1270C>TSubstitution - Missense
C2orf71ENSG00000179270ENST00000331664p.V275Vc.825C>TSubstitution - coding silent
TSSC1ENSG00000032389ENST00000382125p.S168Lc.503C>TSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.L1028Pc.3083T>CSubstitution - Missense
HMOX1ENSG00000100292ENST00000216117p.R237Hc.710G>ASubstitution - Missense
EIF2B4ENSG00000115211ENST00000347454p.P22fs*10c.65delCDeletion - Frameshift
PIK3IP1ENSG00000100100ENST00000402249p.R157Wc.469C>TSubstitution - Missense
DEPDC5ENSG00000100150ENST00000400248p.P820Lc.2459C>TSubstitution - Missense
AP1B1ENSG00000100280ENST00000357586p.P517Tc.1549C>ASubstitution - Missense
MORC2ENSG00000133422ENST00000215862p.L85Lc.255G>ASubstitution - coding silent
MORC2ENSG00000133422ENST00000397641p.L147Lc.441G>ASubstitution - coding silent
TPST2ENSG00000128294ENST00000398110p.A44Gc.131C>GSubstitution - Missense
PRPF6ENSG00000101161ENST00000266079p.G194Rc.580G>ASubstitution - Missense
OPRL1ENSG00000125510ENST00000349451p.A96Tc.286G>ASubstitution - Missense
COL20A1ENSG00000101203ENST00000326996p.L539Lc.1617G>ASubstitution - coding silent
COL20A1ENSG00000101203ENST00000358894p.L539Lc.1617G>ASubstitution - coding silent
LAMA5ENSG00000130702ENST00000252999p.A2729fs*9c.8185delGDeletion - Frameshift
LAMA5ENSG00000130702ENST00000252999p.D2168Gc.6503A>GSubstitution - Missense
OGFRENSG00000060491ENST00000290291p.?c.320-3C>TUnknown
ENST00000370468p.?c.320-3C>TUnknown
COL9A3ENSG00000092758ENST00000343916p.P495Pc.1485C>ASubstitution - coding silent
DIDO1ENSG00000101191ENST00000370366p.S535Sc.1605G>ASubstitution - coding silent
CDC34ENSG00000099804ENST00000215574p.E215Dc.645G>TSubstitution - Missense
ZNF480ENSG00000198464ENST00000335090p.S46Sc.138C>TSubstitution - coding silent
SIGLEC12ENSG00000254521ENST00000291707p.N79Kc.237C>ASubstitution - Missense
SIGLEC14ENSG00000254415ENST00000360844p.P281fs*4c.842delCDeletion - Frameshift
CDK10ENSG00000185324ENST00000353379p.K198fs*53c.587delCDeletion - Frameshift
SPIRE2ENSG00000204991ENST00000378247p.T229Tc.687G>ASubstitution - coding silent
SPIRE2ENSG00000204991ENST00000378247p.L536Pc.1607T>CSubstitution - Missense
MYH8ENSG00000133020ENST00000403437p.E1436Kc.4306G>ASubstitution - Missense
BANPENSG00000172530ENST00000393207p.S334Sc.1002G>ASubstitution - coding silent
BANPENSG00000172530ENST00000355022p.S303Sc.909G>ASubstitution - coding silent
CTU2ENSG00000174177ENST00000453996p.E171Kc.511G>ASubstitution - Missense
CTU2ENSG00000174177ENST00000312060p.E171Kc.511G>ASubstitution - Missense
APRTENSG00000198931ENST00000378364p.C153Cc.459C>TSubstitution - coding silent
ARHGEF26ENSG00000114790ENST00000356448p.R279Cc.835C>TSubstitution - Missense
ARHGEF26ENSG00000114790ENST00000465817p.R279Cc.835C>TSubstitution - Missense
ARHGEF26ENSG00000114790ENST00000356448p.F672fs*37c.2012delTDeletion - Frameshift
ARHGEF26ENSG00000114790ENST00000356448p.F672fs*37c.2012delTDeletion - Frameshift
P2RY13ENSG00000181631ENST00000325602p.N249fs*38c.740_741insAInsertion - Frameshift
DNAH6ENSG00000115423ENST00000237449p.N304fs*16c.905delADeletion - Frameshift
ENST00000273083p.E851_D852insEEEc.2555_2556insGGAGGAGGAInsertion - In frame
LOXL3ENSG00000115318ENST00000264094p.C345fs*28c.1034_1035delGTDeletion - Frameshift
ENST00000544512p.C560Rc.1678T>CSubstitution - Missense
CYP26B1ENSG00000003137ENST00000001146p.R240Rc.720G>ASubstitution - coding silent
CDH1ENSG00000039068ENST00000261769p.V157Ac.470T>CSubstitution - Missense
FAM65AENSG00000039523ENST00000042381p.S747Fc.2240C>TSubstitution - Missense
FAM65AENSG00000039523ENST00000042381p.R946Wc.2836C>TSubstitution - Missense
ENST00000319955p.T196Tc.588T>CSubstitution - coding silent
PIGQENSG00000007541ENST00000026218p.L409Pc.1226T>CSubstitution - Missense
HSF4ENSG00000102878ENST00000264009p.V171Ac.512T>CSubstitution - Missense
ANKRD33BENSG00000164236ENST00000296657p.A35Vc.104C>TSubstitution - Missense
CTNND2ENSG00000169862ENST00000304623p.N949Sc.2846A>GSubstitution - Missense
EPB41L4AENSG00000129595ENST00000261486p.?c.1933-9A>TUnknown
APCENSG00000134982ENST00000457016p.R463Rc.1389A>GSubstitution - coding silent
ST8SIA4ENSG00000113532ENST00000231461p.L351Lc.1051C>TSubstitution - coding silent
SCN11AENSG00000168356ENST00000302328p.I997Ic.2991T>CSubstitution - coding silent
ZNF620ENSG00000177842ENST00000314529p.P53Lc.158C>TSubstitution - Missense
TRAK1ENSG00000182606ENST00000341421p.R546fs*39c.1632delCDeletion - Frameshift
NKTRENSG00000114857ENST00000232978p.Q1106*c.3316C>TSubstitution - Nonsense
PLCD1ENSG00000187091ENST00000334661p.N739Nc.2217C>TSubstitution - coding silent
PLCD1ENSG00000187091ENST00000334661p.R609*c.1825C>TSubstitution - Nonsense
PLCD1ENSG00000187091ENST00000334661p.P411Sc.1231C>TSubstitution - Missense
PLCD1ENSG00000187091ENST00000463876p.L363Fc.1087C>TSubstitution - Missense
GADL1ENSG00000144644ENST00000282538p.C356fs*14c.1059_1060insAInsertion - Frameshift
ENST00000396566p.C172fs*14c.507_508insAInsertion - Frameshift
RANBP2ENSG00000153201ENST00000283195p.A1023Tc.3067G>ASubstitution - Missense
KCNF1ENSG00000162975ENST00000295082p.W362Rc.1084T>CSubstitution - Missense
HPCAL1ENSG00000115756ENST00000381765p.R9Qc.26G>ASubstitution - Missense
ENST00000316893p.T1296Mc.3887C>TSubstitution - Missense
ZNF324ENSG00000083812ENST00000196482p.P452Sc.1354C>TSubstitution - Missense
ZNF606ENSG00000166704ENST00000341164p.E351Kc.1051G>ASubstitution - Missense
ENSG00000083842ENST00000196548p.I64Mc.192A>GSubstitution - Missense
ZNF497ENSG00000174586ENST00000311044p.A417Tc.1249G>ASubstitution - Missense
PEG3ENSG00000198300ENST00000423103p.C540Cc.1620T>CSubstitution - coding silent
DUS3LENSG00000141994ENST00000309061p.?c.900+5G>AUnknown
ZNF548ENSG00000188785ENST00000336128p.F357Ic.1069T>ASubstitution - Missense
BSGENSG00000172270ENST00000333511p.R170Cc.508C>TSubstitution - Missense
NLRP8ENSG00000179709ENST00000291971p.L88Lc.262T>CSubstitution - coding silent
LONP1ENSG00000196365ENST00000360614p.R205Hc.614G>ASubstitution - Missense
XM_497119.1p.R3023Hc.9068G>ASubstitution - Missense
HUWE1ENSG00000086758ENST00000342160p.T2633Ic.7898C>TSubstitution - Missense
XM_497119.1p.T2496Ic.7487C>TSubstitution - Missense
TMEM190ENSG00000160472ENST00000291934p.I49Tc.146T>CSubstitution - Missense
NLRP4ENSG00000160505ENST00000587891p.K67Rc.200A>GSubstitution - Missense
PORCNENSG00000102312ENST00000537758p.L159Ic.475C>ASubstitution - Missense
PORCNENSG00000102312ENST00000537758p.R225Cc.673C>TSubstitution - Missense
PRAF2ENSG00000243279ENST00000376390p.A176Vc.527C>TSubstitution - Missense
CACNA1FENSG00000102001ENST00000376265p.L1624fs*136c.4870delCDeletion - Frameshift
OTCENSG00000036473ENST00000039007p.R40Hc.119G>ASubstitution - Missense
KDM6AENSG00000147050ENST00000377967p.N606Nc.1818C>TSubstitution - coding silent
ENST00000381114p.P28Lc.83C>TSubstitution - Missense
DMDENSG00000198947ENST00000357033p.S353Sc.1059G>ASubstitution - coding silent
DMDENSG00000198947ENST00000378677p.S349Sc.1047G>ASubstitution - coding silent
CXorf22ENSG00000165164ENST00000297866p.K450*c.1348A>TSubstitution - Nonsense
NM_152632.1p.K450*c.1348A>TSubstitution - Nonsense
XM_372202.2p.R381*c.1141C>TSubstitution - Nonsense
SPIDRENSG00000164808ENST00000297423p.H236Hc.708T>CSubstitution - coding silent
ENST00000381114p.P28Lc.83C>TSubstitution - Missense
IWS1ENSG00000163166ENST00000295321p.K582fs*4c.1745delADeletion - Frameshift
SLC35F5ENSG00000115084ENST00000245680p.P322Sc.964C>TSubstitution - Missense
GREB1ENSG00000196208ENST00000381486p.D1834Gc.5501A>GSubstitution - Missense
SCTRENSG00000080293ENST00000019103p.P81Pc.243G>ASubstitution - coding silent
EPB41L5ENSG00000115109ENST00000263713p.Y375Hc.1123T>CSubstitution - Missense
EPB41L5ENSG00000115109ENST00000443124p.Y375Hc.1123T>CSubstitution - Missense
ZC3H6ENSG00000188177ENST00000409871p.K256fs*5c.763delADeletion - Frameshift
CXorf58ENSG00000165182ENST00000379211p.?c.940-1G>TUnknown
FLNAENSG00000196924ENST00000369850p.V1052Mc.3154G>ASubstitution - Missense
FLNAENSG00000196924ENST00000369850p.V1052Mc.3154G>ASubstitution - Missense
NXPH1ENSG00000122584ENST00000405863p.S246Sc.738T>CSubstitution - coding silent
SUN1ENSG00000164828ENST00000401592p.?c.1351-9A>GUnknown
SEMA3EENSG00000170381ENST00000307792p.R220Hc.659G>ASubstitution - Missense
MIOSENSG00000164654ENST00000405785p.G550fs*3c.1643delADeletion - Frameshift
CCDC146ENSG00000135205ENST00000285871p.K504fs*8c.1507delADeletion - Frameshift
HOXA13ENSG00000106031ENST00000222753p.A218Tc.652G>ASubstitution - Missense
CRHR2ENSG00000106113ENST00000348438p.?c.625-10C>AUnknown
CRHR2ENSG00000106113ENST00000471646p.?c.544-10C>AUnknown
CRHR2ENSG00000106113ENST00000341843p.?c.502-10C>AUnknown
DNAH11ENSG00000105877ENST00000328843p.T4421fs*34c.13261_13262insAInsertion - Frameshift
NM_012294.2p.A21Sc.61G>TSubstitution - Missense
NUDT1ENSG00000106268ENST00000343985p.?c.222-4G>AUnknown
SNX8ENSG00000106266ENST00000222990p.L397Lc.1191G>ASubstitution - coding silent
CHST12ENSG00000136213ENST00000258711p.Y326Cc.977A>GSubstitution - Missense
BRAT1ENSG00000106009ENST00000340611p.A748Tc.2242G>ASubstitution - Missense
BRAT1ENSG00000106009ENST00000340611p.P187Lc.560C>TSubstitution - Missense
PDE10AENSG00000112541ENST00000366882p.L358Lc.1074G>ASubstitution - coding silent
TENSG00000164458ENST00000296946p.G107Rc.319G>CSubstitution - Missense
ARID1BENSG00000049618ENST00000346085p.G551Sc.1651G>ASubstitution - Missense
ARID1BENSG00000049618ENST00000275248p.G493Sc.1477G>ASubstitution - Missense
TULP4ENSG00000130338ENST00000367097p.R403fs*24c.1201delCDeletion - Frameshift
TMEM181ENSG00000146433ENST00000367090p.A267Tc.799G>ASubstitution - Missense
PNLDC1ENSG00000146453ENST00000275275p.H349Hc.1047C>TSubstitution - coding silent
JARID2ENSG00000008083ENST00000341776p.A396fs*25c.1186_1187insGInsertion - Frameshift
TIAM2ENSG00000146426ENST00000318981p.A618Ac.1854T>GSubstitution - coding silent
GRM1ENSG00000152822ENST00000392299p.A573Sc.1717G>TSubstitution - Missense
GRM1ENSG00000152822ENST00000282753p.E1127Dc.3381G>TSubstitution - Missense
LRP11ENSG00000120256ENST00000239367p.N291Nc.873C>TSubstitution - coding silent
AKAP12ENSG00000131016ENST00000402676p.G208fs*35c.617_620delGGGADeletion - Frameshift
UTRNENSG00000152818ENST00000367545p.?c.2073-3C>AUnknown
UTRNENSG00000152818ENST00000367545p.S2727Sc.8181G>ASubstitution - coding silent
EPM2AENSG00000112425ENST00000367519p.?c.719-5C>TUnknown
GRM1ENSG00000152822ENST00000282753p.A573Sc.1717G>TSubstitution - Missense
AMACRENSG00000242110ENST00000335606p.R361Rc.1083C>TSubstitution - coding silent
TNFAIP3ENSG00000118503ENST00000237289p.K759fs*10c.2267_2268insCInsertion - Frameshift
C5orf22ENSG00000082213ENST00000325366p.D255Ec.765T>GSubstitution - Missense
FLT4ENSG00000037280ENST00000261937p.R589Cc.1765C>TSubstitution - Missense
ENST00000376868p.R399Cc.1195C>TSubstitution - Missense
TRIM7ENSG00000146054ENST00000393319p.G6Gc.18C>TSubstitution - coding silent
TRIM41ENSG00000146063ENST00000315073p.D524Vc.1571A>TSubstitution - Missense
PCDH18ENSG00000189184ENST00000344876p.A277Tc.829G>ASubstitution - Missense
HNRNPH1ENSG00000169045ENST00000393432p.G279Cc.835G>TSubstitution - Missense
HNRNPH1ENSG00000169045ENST00000356731p.G279Cc.835G>TSubstitution - Missense
TBC1D9BENSG00000197226ENST00000356834p.S1138Sc.3414A>GSubstitution - coding silent
FAT4ENSG00000196159ENST00000394329p.D1708Gc.5123A>GSubstitution - Missense
ENST00000330166p.D1708Gc.5123A>GSubstitution - Missense
ENST00000454347p.T233Mc.698C>TSubstitution - Missense
PCDH10ENSG00000138650ENST00000264360p.E27Dc.81G>TSubstitution - Missense
NDST4ENSG00000138653ENST00000264363p.G501*c.1501G>TSubstitution - Nonsense
SYNPO2ENSG00000172403ENST00000307142p.T3Tc.9A>GSubstitution - coding silent
SYNPO2ENSG00000172403ENST00000434046p.T3Tc.9A>GSubstitution - coding silent
ENSG00000178636ENST00000326780p.R39Ic.116G>TSubstitution - Missense
TIPARPENSG00000163659ENST00000295924p.T262Nc.785C>ASubstitution - Missense
VEPH1ENSG00000197415ENST00000392832p.V125fs*26c.366_367insCInsertion - Frameshift
PNISRENSG00000132424ENST00000369239p.K667fs*7c.2000delADeletion - Frameshift
C7orf61ENSG00000185955ENST00000332375p.R191fs*8c.571delCDeletion - Frameshift
NYAP1ENSG00000166924ENST00000300179p.S140fs*63c.412delCDeletion - Frameshift
FBXO24ENSG00000106336ENST00000241071p.S125Sc.375C>TSubstitution - coding silent
ACTL6BENSG00000077080ENST00000160382p.S315Sc.945G>ASubstitution - coding silent
GIGYF1ENSG00000146830ENST00000275732p.?c.165+7G>AUnknown
POP7ENSG00000172336ENST00000303151p.Q48Qc.144G>ASubstitution - coding silent
TRIP6ENSG00000087077ENST00000200457p.E337Ec.1011G>ASubstitution - coding silent
ENST00000373108p.I171Tc.512T>CSubstitution - Missense
TAF8ENSG00000137413ENST00000372977p.D291Nc.871G>ASubstitution - Missense
GUCA1AENSG00000048545ENST00000372958p.K142Ec.424A>GSubstitution - Missense
UBR2ENSG00000024048ENST00000372899p.?c.3242+3_3242+8delaaaaaaUnknown
KLHDC3ENSG00000124702ENST00000326974p.V234Ac.701T>CSubstitution - Missense
CUL7ENSG00000044090ENST00000265348p.P333Sc.997C>TSubstitution - Missense
BTBD9ENSG00000183826ENST00000403056p.C384Yc.1151G>ASubstitution - Missense
MTRRENSG00000124275ENST00000264668p.?c.2033+6T>CUnknown
IQGAP2ENSG00000145703ENST00000274364p.T1171Mc.3512C>TSubstitution - Missense
WDR41ENSG00000164253ENST00000296679p.V46Vc.138A>GSubstitution - coding silent
ADCY2ENSG00000078295ENST00000338316p.?c.870-6C>AUnknown
ADCY2ENSG00000078295ENST00000537121p.?c.330-6C>AUnknown
PLXNB1ENSG00000164050ENST00000296440p.G858fs*67c.2573delGDeletion - Frameshift
ATRIPENSG00000164053ENST00000320211p.A771Vc.2312C>TSubstitution - Missense
NBEAL2ENSG00000160796ENST00000292309p.R1697Qc.5090G>ASubstitution - Missense
PTPN23ENSG00000076201ENST00000265562p.A130fs*11c.384delGDeletion - Frameshift
DHX30ENSG00000132153ENST00000445061p.E191delEc.568_570delGAGDeletion - In frame
MAP4ENSG00000047849ENST00000360240p.R860Hc.2579G>ASubstitution - Missense
MAP4ENSG00000047849ENST00000264724p.R595Hc.1784G>ASubstitution - Missense
KIF15ENSG00000163808ENST00000326047p.N171Nc.513C>TSubstitution - coding silent
FYCO1ENSG00000163820ENST00000296137p.S357Sc.1071A>GSubstitution - coding silent
XM_371474.2p.G432Gc.1296C>ASubstitution - coding silent
SETMARENSG00000170364ENST00000358065p.F139Ic.415T>ASubstitution - Missense
CELSR1ENSG00000075275ENST00000262738p.A1493Tc.4477G>ASubstitution - Missense
SMC1BENSG00000077935ENST00000357450p.?c.298+2T>CUnknown
NM_148674.1p.?c.293+7T>CUnknown
ENST00000358511_v70p.E1255Vc.3764A>TSubstitution - Missense
ENST00000358511_v70p.P1447Hc.4340C>ASubstitution - Missense
COL6A6ENSG00000206384ENST00000358511p.P1447Hc.4340C>ASubstitution - Missense
ENST00000358511_v70p.T1769Ac.5305A>GSubstitution - Missense
ENST00000358511_v70p.A1911Vc.5732C>TSubstitution - Missense
COL6A6ENSG00000206384ENST00000358511p.A1911Vc.5732C>TSubstitution - Missense
PLXND1ENSG00000004399ENST00000324093p.V465Mc.1393G>ASubstitution - Missense
SLC12A8ENSG00000221955ENST00000393469p.G293fs*46c.878delGDeletion - Frameshift
SNX4ENSG00000114520ENST00000251775p.L237Pc.710T>CSubstitution - Missense
ALDH1L1ENSG00000144908ENST00000393434p.R483Wc.1447C>TSubstitution - Missense
ALDH1L1ENSG00000144908ENST00000455064p.E82Kc.244G>ASubstitution - Missense
NM_053025p.C1515Cc.4545C>TSubstitution - coding silent
B3GNT2ENSG00000170340ENST00000301998p.A84Vc.251C>TSubstitution - Missense
EHBP1ENSG00000115504ENST00000263991p.?c.2565+7A>GUnknown
ETAA1ENSG00000143971ENST00000272342p.S563Sc.1689T>CSubstitution - coding silent
SPTBN1ENSG00000115306ENST00000356805p.P2139Pc.6417A>GSubstitution - coding silent
SPTBN1ENSG00000115306ENST00000333896p.P2126Pc.6378A>GSubstitution - coding silent
VRK2ENSG00000028116ENST00000435505p.I131Vc.391A>GSubstitution - Missense
SH3BP4ENSG00000130147ENST00000344528p.R770Cc.2308C>TSubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.?c.6817-1G>AUnknown
USP40ENSG00000085982ENST00000450966p.?c.2749-6T>AUnknown
CAB39ENSG00000135932ENST00000258418p.?c.838-5C>TUnknown
DIS3L2ENSG00000144535ENST00000325385p.S31Sc.93G>ASubstitution - coding silent
WDFY1ENSG00000085449ENST00000233055p.S247Lc.740C>TSubstitution - Missense
MRPL44ENSG00000135900ENST00000258383p.C167Yc.500G>ASubstitution - Missense
RNF25ENSG00000163481ENST00000295704p.K35Ec.103A>GSubstitution - Missense
PTPRNENSG00000054356ENST00000295718p.L72Fc.214C>TSubstitution - Missense
MAP3K2ENSG00000169967ENST00000409947p.C405Rc.1213T>CSubstitution - Missense
MAP3K2ENSG00000169967ENST00000409947p.C405Rc.1213T>CSubstitution - Missense
PROCENSG00000115718ENST00000234071p.R356Hc.1067G>ASubstitution - Missense
FAM160A1ENSG00000164142ENST00000435205p.I39Vc.115A>GSubstitution - Missense
RASA2ENSG00000155903ENST00000286364p.P275Hc.824C>ASubstitution - Missense
RASA2ENSG00000155903ENST00000286364p.P275Hc.824C>ASubstitution - Missense
PAQR9ENSG00000188582ENST00000340634p.P117Pc.351G>ASubstitution - coding silent
ESYT3ENSG00000158220ENST00000389567p.T179Tc.537T>CSubstitution - coding silent
MRPS22ENSG00000175110ENST00000310776p.P207Sc.619C>TSubstitution - Missense
CLSTN2ENSG00000158258ENST00000458420p.K508Tc.1523A>CSubstitution - Missense
TRIM42ENSG00000155890ENST00000286349p.R706*c.2116C>TSubstitution - Nonsense
NEK11ENSG00000114670ENST00000429253p.S616Sc.1848C>TSubstitution - coding silent
ANAPC13ENSG00000129055ENST00000510994p.L24Lc.70C>TSubstitution - coding silent
HRH1ENSG00000196639ENST00000397056p.F153Sc.458T>CSubstitution - Missense
KIAA1407ENSG00000163617ENST00000295878p.E579Kc.1735G>ASubstitution - Missense
ATG7ENSG00000197548ENST00000354449p.R478Gc.1432A>GSubstitution - Missense
ZRANB3ENSG00000121988ENST00000264159p.?c.2353-4C>TUnknown
SLC9C1ENSG00000172139ENST00000305815p.L340fs*1c.1019delTDeletion - Frameshift
SETD1AENSG00000099381ENST00000262519p.V1615Mc.4843G>ASubstitution - Missense
KIF22ENSG00000079616ENST00000160827p.S211Pc.631T>CSubstitution - Missense
MVPENSG00000013364ENST00000395353p.R479Rc.1437C>TSubstitution - coding silent
TUFMENSG00000178952ENST00000313511p.E449delEc.1345_1347delGAGDeletion - In frame
SH2B1ENSG00000178188ENST00000359285p.G441Gc.1323C>GSubstitution - coding silent
ENST00000427965p.R177Kc.530G>ASubstitution - Missense
MAMSTRENSG00000176909ENST00000318083p.H163fs*9c.477_478insCInsertion - Frameshift
MAMSTRENSG00000176909ENST00000356751p.H60fs*9c.168_169insCInsertion - Frameshift
RASIP1ENSG00000105538ENST00000222145p.P746Pc.2238T>CSubstitution - coding silent
GYS1ENSG00000104812ENST00000323798p.L613Pc.1838T>CSubstitution - Missense
PLIN3ENSG00000105355ENST00000221957p.R28Hc.83G>ASubstitution - Missense
SYNGR4ENSG00000105467ENST00000344846p.R227Qc.680G>ASubstitution - Missense
PRKD2ENSG00000105287ENST00000291281p.S245Tc.733T>ASubstitution - Missense
ENST00000317082_v61p.T136Tc.408T>CSubstitution - coding silent
ENST00000317082p.R972fs*40c.2914_2915insCInsertion - Frameshift
DHX34ENSG00000134815ENST00000328771p.L892Pc.2675T>CSubstitution - Missense
EML2ENSG00000125746ENST00000245925p.V496Ac.1487T>CSubstitution - Missense
DMPKENSG00000104936ENST00000343373p.R183Cc.547C>TSubstitution - Missense
DMPKENSG00000104936ENST00000291270p.G126Vc.377G>TSubstitution - Missense
GEMIN7ENSG00000142252ENST00000391951p.V104Mc.310G>ASubstitution - Missense
CRTC1ENSG00000105662ENST00000338797p.I618Ic.1854C>TSubstitution - coding silent
SCAMP4ENSG00000227500ENST00000316097p.F109fs*10c.322delTDeletion - Frameshift
NCANENSG00000130287ENST00000252575p.L799fs*28c.2390delCDeletion - Frameshift
CILP2ENSG00000160161ENST00000291495p.R885Wc.2653C>TSubstitution - Missense
SU_MAST3p.?c.226+3G>CUnknown
PGPEP1ENSG00000130517ENST00000269919p.V75fs*64c.219delGDeletion - Frameshift
MAGEE1ENSG00000198934ENST00000361470p.L485Pc.1454T>CSubstitution - Missense
XM_291322.3p.A138Ac.414G>ASubstitution - coding silent
MED12ENSG00000184634ENST00000374080p.R483Qc.1448G>ASubstitution - Missense
GNL3LENSG00000130119ENST00000336470p.P24Sc.70C>TSubstitution - Missense
MTMR8ENSG00000102043ENST00000374852p.I622Tc.1865T>CSubstitution - Missense
CNTLNENSG00000044459ENST00000380647p.?c.3114+9A>GUnknown
FOCADENSG00000188352ENST00000380249p.V521Vc.1563G>ASubstitution - coding silent
IFNA13ENSG00000233816ENST00000449498p.D68Hc.202G>CSubstitution - Missense
EHMT1ENSG00000181090ENST00000460843p.R1127Rc.3381G>ASubstitution - coding silent
ENST00000298728p.R1096Rc.3288G>ASubstitution - coding silent
CACNA1BENSG00000148408ENST00000371372p.V1158Mc.3472G>ASubstitution - Missense
CACNA1BENSG00000148408ENST00000371372p.R2227Wc.6679C>TSubstitution - Missense
CLDN4ENSG00000189143ENST00000340958p.R188fs*>23c.558_559insCInsertion - Frameshift
RFC2ENSG00000049541ENST00000055077p.D148Nc.442G>ASubstitution - Missense
CLIP2ENSG00000106665ENST00000361545p.P149Sc.445C>TSubstitution - Missense
GTF2IRD1ENSG00000006704ENST00000265755p.?c.2153-8G>TUnknown
AUTS2ENSG00000158321ENST00000342771p.G1229fs*16c.3681delGDeletion - Frameshift
POM121ENSG00000196313ENST00000257622p.A664Tc.1990G>ASubstitution - Missense
MLXIPLENSG00000009950ENST00000313375p.?c.2058+9C>TUnknown
GRID2IPENSG00000215045ENST00000457091p.R724Qc.2171G>ASubstitution - Missense
AP1S1ENSG00000106367ENST00000337619p.?c.429+6G>TUnknown
RELNENSG00000189056ENST00000343529p.T1316Ac.3946A>GSubstitution - Missense
MUC3AENSG00000169894ENST00000319509p.S334Pc.1000T>CSubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.A869fs*45c.2605delGDeletion - Frameshift
EEF1A1ENSG00000156508ENST00000316292p.G390Dc.1169G>ASubstitution - Missense
LMBRD1ENSG00000168216ENST00000370577p.?c.762+2T>CUnknown
LMBRD1ENSG00000168216ENST00000370577p.S132Sc.396T>CSubstitution - coding silent
RSPH4AENSG00000111834ENST00000229554p.?c.1662+7G>AUnknown
GPRC6AENSG00000173612ENST00000310357p.N439Nc.1317C>TSubstitution - coding silent
NEDD9ENSG00000111859ENST00000379446p.Q76Rc.227A>GSubstitution - Missense
ENST00000441191p.E154Ec.462A>GSubstitution - coding silent
TUBE1ENSG00000074935ENST00000368662p.Y120Cc.359A>GSubstitution - Missense
ENST00000441191p.Y76Cc.227A>GSubstitution - Missense
FOXO3ENSG00000118689ENST00000343882p.G673Gc.2019C>TSubstitution - coding silent
TNRC6BENSG00000100354ENST00000454349p.S1248Fc.3743C>TSubstitution - Missense
SGSM3ENSG00000100359ENST00000248929p.?c.1580-3C>TUnknown
EP300ENSG00000100393ENST00000263253p.K1810Kc.5430G>ASubstitution - coding silent
TOB2ENSG00000183864ENST00000327492p.L235fs*38c.703_704delCTDeletion - Frameshift
ENST00000356843p.E2Dc.6G>TSubstitution - Missense
C22orf46ENSG00000184208ENST00000402966p.E2Dc.6G>TSubstitution - Missense
TFAP2AENSG00000137203ENST00000379608p.N419Nc.1257C>TSubstitution - coding silent
P2RY11ENSG00000244165ENST00000321826p.Q174*c.520C>TSubstitution - Nonsense
FOXRED2ENSG00000100350ENST00000397223p.L267Pc.800T>CSubstitution - Missense
TMPRSS6ENSG00000187045ENST00000346753p.P472Tc.1414C>ASubstitution - Missense
SSTR3ENSG00000183473ENST00000328544p.P158Pc.474G>ASubstitution - coding silent
SALL3ENSG00000256463ENST00000537592p.L652fs*2c.1948delGDeletion - Frameshift
NFATC1ENSG00000131196ENST00000329101p.V553Ic.1657G>ASubstitution - Missense
NFATC1ENSG00000131196ENST00000591814p.V566Ic.1696G>ASubstitution - Missense
RDH8ENSG00000080511ENST00000171214p.R287Hc.860G>ASubstitution - Missense
SOCS6ENSG00000170677ENST00000397942p.T125Mc.374C>TSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.R2816*c.8446C>TSubstitution - Nonsense
ZNF407ENSG00000215421ENST00000582337p.S54fs*7c.153_154insGInsertion - Frameshift
ZNF407ENSG00000215421ENST00000582337p.S54fs*7c.155_156insTInsertion - Frameshift
ZNF236ENSG00000130856ENST00000543926p.Q380Qc.1140G>ASubstitution - coding silent
ZNF236ENSG00000130856ENST00000253159p.R607Hc.1820G>ASubstitution - Missense
DSELENSG00000171451ENST00000310045p.Y804fs*7c.2410delTDeletion - Frameshift
ENOSF1ENSG00000132199ENST00000251101p.V399Lc.1195G>CSubstitution - Missense
LIX1ENSG00000145721ENST00000274382p.R226Qc.677G>ASubstitution - Missense
POF1BENSG00000124429ENST00000262753p.E277Kc.829G>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000373094p.F763fs*11c.2281_2282delTCDeletion - Frameshift
PCDH11XENSG00000102290ENST00000504220p.F763fs*11c.2281_2282delTCDeletion - Frameshift
BRD9ENSG00000028310ENST00000467963p.R85Kc.254G>ASubstitution - Missense
TRIP13ENSG00000071539ENST00000166345p.?c.259-7A>TUnknown
SEMA5AENSG00000112902ENST00000382496p.R342Cc.1024C>TSubstitution - Missense
ANKRD32ENSG00000133302ENST00000265140p.F426fs*26c.1272delTDeletion - Frameshift
ENST00000231589p.?c.997+2T>CUnknown
VCANENSG00000038427ENST00000265077p.T2069Mc.6206C>TSubstitution - Missense
RAPGEF6ENSG00000158987ENST00000509018p.R538Hc.1613G>ASubstitution - Missense
RAPGEF6ENSG00000158987ENST00000307984p.R538Hc.1613G>ASubstitution - Missense
RAPGEF6ENSG00000158987ENST00000308008p.R538Hc.1613G>ASubstitution - Missense
P4HA2ENSG00000072682ENST00000166534p.P336Lc.1007C>TSubstitution - Missense
P4HA2ENSG00000072682ENST00000379100p.P336Lc.1007C>TSubstitution - Missense
SHROOM1ENSG00000164403ENST00000319854p.R830Wc.2488C>TSubstitution - Missense
PRRC1ENSG00000164244ENST00000442138p.A181Ac.543A>TSubstitution - coding silent
STIM2ENSG00000109689ENST00000237364p.S806Rc.2418C>ASubstitution - Missense
DTWD2ENSG00000169570ENST00000510708p.R144Wc.430C>TSubstitution - Missense
PRR16ENSG00000184838ENST00000379551p.E70Dc.210G>TSubstitution - Missense
NELFAENSG00000185049ENST00000333877p.?c.383-5G>AUnknown
MXD4ENSG00000123933ENST00000337190p.G197Gc.591G>ASubstitution - coding silent
UFSP2ENSG00000109775ENST00000264689p.H327Qc.981C>GSubstitution - Missense
F11ENSG00000088926ENST00000403665p.T150Tc.450G>CSubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.A2560Vc.7679C>TSubstitution - Missense
DCHS2ENSG00000197410ENST00000357232p.G1219Dc.3656G>ASubstitution - Missense
NPY2RENSG00000185149ENST00000329476p.S338Sc.1014G>ASubstitution - coding silent
PDGFCENSG00000145431ENST00000502773p.C296Cc.888T>CSubstitution - coding silent
HHIPENSG00000164161ENST00000296575p.?c.983+6A>GUnknown
ANAPC10ENSG00000164162ENST00000507656p.R109Wc.325C>TSubstitution - Missense
MECOMENSG00000085276ENST00000264674p.?c.138+6T>CUnknown
TNIKENSG00000154310ENST00000436636p.I573Tc.1718T>CSubstitution - Missense
SIPA1L3ENSG00000105738ENST00000222345p.A20Tc.58G>ASubstitution - Missense
ENST00000437720p.D292Dc.876C>TSubstitution - coding silent
DPF1ENSG00000011332ENST00000355526p.D221Dc.663C>TSubstitution - coding silent
ZNF146ENSG00000167635ENST00000443387p.L88delLc.258_260delCCTDeletion - In frame
MRPL54ENSG00000183617ENST00000330133p.P93Pc.279T>CSubstitution - coding silent
MATKENSG00000007264ENST00000395045p.E448fs*11c.1341delCDeletion - Frameshift
ZBTB32ENSG00000011590ENST00000392197p.?c.1024+8G>AUnknown
ENSG00000272333ENST00000222270p.G1201fs*156c.3598delGDeletion - Frameshift
IGFLR1ENSG00000126246ENST00000246532p.R310Qc.929G>ASubstitution - Missense
NFKBIDENSG00000167604ENST00000352614p.A209Ac.627G>ASubstitution - coding silent
CLIP3ENSG00000105270ENST00000360535p.V501fs*>48c.1500_1501insAInsertion - Frameshift
USP32ENSG00000170832ENST00000300896p.G1453Gc.4359C>TSubstitution - coding silent
FZR1ENSG00000105325ENST00000441788p.G375fs*14c.1119delGDeletion - Frameshift
GRAMD1AENSG00000089351ENST00000317991p.A380Tc.1138G>ASubstitution - Missense
MAGENSG00000105695ENST00000392213p.R77Cc.229C>TSubstitution - Missense
MAGENSG00000105695ENST00000361922p.R77Cc.229C>TSubstitution - Missense
MAGENSG00000105695ENST00000392213p.V428Mc.1282G>ASubstitution - Missense
CD22ENSG00000012124ENST00000085219p.A38fs*12c.108delGDeletion - Frameshift
EPXENSG00000121053ENST00000225371p.A138Ac.414C>TSubstitution - coding silent
KIF1CENSG00000129250ENST00000320785p.S1060Fc.3179C>TSubstitution - Missense
CA10ENSG00000154975ENST00000285273p.C296Yc.887G>ASubstitution - Missense
NM_005082.3p.A254Tc.760G>ASubstitution - Missense
FZD2ENSG00000180340ENST00000315323p.H362Hc.1086C>TSubstitution - coding silent
NMT1ENSG00000136448ENST00000258960p.H313Rc.938A>GSubstitution - Missense
CACNA1GENSG00000006283ENST00000416767p.S1085Sc.3255A>GSubstitution - coding silent
LUC7L3ENSG00000108848ENST00000505658p.R279fs*112c.830_833delAAGADeletion - Frameshift
ETV4ENSG00000175832ENST00000319349p.R397Cc.1189C>TSubstitution - Missense
MPP3ENSG00000161647ENST00000398389p.G362Gc.1086A>GSubstitution - coding silent
ZZEF1ENSG00000074755ENST00000381638p.R215Wc.643C>TSubstitution - Missense
KRT19ENSG00000171345ENST00000361566p.E295Kc.883G>ASubstitution - Missense
SLC3A1ENSG00000138079ENST00000260649p.R81Cc.241C>TSubstitution - Missense
PRKCEENSG00000171132ENST00000306156p.A609Vc.1826C>TSubstitution - Missense
DHX57ENSG00000163214ENST00000295373p.V688Ac.2063T>CSubstitution - Missense
DHX57ENSG00000163214ENST00000295373p.N144Nc.432C>TSubstitution - coding silent
SLC8A1ENSG00000183023ENST00000403092p.C186Rc.556T>CSubstitution - Missense
RHOT1ENSG00000126858ENST00000358365p.D517Dc.1551C>TSubstitution - coding silent
MYO1DENSG00000176658ENST00000318217p.Y632Yc.1896C>TSubstitution - coding silent
ENST00000229606p.V83Ic.247G>ASubstitution - Missense
MDN1ENSG00000112159ENST00000369393p.A5000Vc.14999C>TSubstitution - Missense
BACH2ENSG00000112182ENST00000257749p.D299Dc.897C>TSubstitution - coding silent
ME1ENSG00000065833ENST00000369705p.R155Hc.464G>ASubstitution - Missense
BCLAF1ENSG00000029363ENST00000531224p.S281Pc.841T>CSubstitution - Missense
SENP6ENSG00000112701ENST00000447266p.E191Ec.573A>GSubstitution - coding silent
SENP6ENSG00000112701ENST00000370014p.E191Ec.573A>GSubstitution - coding silent
MYO6ENSG00000196586ENST00000369977p.?c.2507+1G>CUnknown
TTKENSG00000112742ENST00000369798p.?c.362+1G>AUnknown
TTKENSG00000112742ENST00000369798p.?c.362+1G>AUnknown
TTKENSG00000112742ENST00000369798p.G855fs*>3c.2561delGDeletion - Frameshift
TTKENSG00000112742ENST00000369798p.G855fs*>3c.2561delGDeletion - Frameshift
OR2A4ENSG00000180658ENST00000315453p.L304Mc.910C>ASubstitution - Missense
VNN2ENSG00000112303ENST00000326499p.A64Tc.190G>ASubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.S878Sc.2634C>TSubstitution - coding silent
L3MBTL3ENSG00000198945ENST00000368136p.G136Rc.406G>ASubstitution - Missense
SLC46A2ENSG00000119457ENST00000374228p.Y253Cc.758A>GSubstitution - Missense
ZFP37ENSG00000136866ENST00000374227p.K552Kc.1656A>GSubstitution - coding silent
MCM9ENSG00000111877ENST00000316316p.P896Lc.2687C>TSubstitution - Missense
NCOA7ENSG00000111912ENST00000368357p.L806Lc.2416C>TSubstitution - coding silent
ACTL7BENSG00000148156ENST00000374667p.V279Mc.835G>ASubstitution - Missense
ACTL7AENSG00000187003ENST00000333999p.S213Sc.639C>TSubstitution - coding silent
ANKS6ENSG00000165138ENST00000353234p.T547Tc.1641C>ASubstitution - coding silent
ALG2ENSG00000119523ENST00000476832p.L284Sc.851T>CSubstitution - Missense
COL14A1ENSG00000187955ENST00000297848p.H972Yc.2914C>TSubstitution - Missense
ENST00000274705p.A480Tc.1438G>ASubstitution - Missense
PCDHA11ENSG00000249158ENST00000398640p.R479Qc.1436G>ASubstitution - Missense
PCDHA11ENSG00000249158ENST00000398640p.V589Mc.1765G>ASubstitution - Missense
PCDHA3ENSG00000255408ENST00000522353p.S505Sc.1515G>ASubstitution - coding silent
ENST00000378129p.S505Sc.1515G>ASubstitution - coding silent
PCDHA6ENSG00000081842ENST00000529310p.V289Ac.866T>CSubstitution - Missense
ENST00000289630p.V289Ac.866T>CSubstitution - Missense
TMEM173ENSG00000184584ENST00000330794p.A254Vc.761C>TSubstitution - Missense
ABCD1ENSG00000101986ENST00000218104p.T693Tc.2079G>ASubstitution - coding silent
MYOTENSG00000120729ENST00000239926p.A197Vc.590C>TSubstitution - Missense
PKD2L2ENSG00000078795ENST00000290431p.C363Yc.1088G>ASubstitution - Missense
PKD2L2ENSG00000078795ENST00000508883p.L598fs*82c.1786_1787insTInsertion - Frameshift
MTM1ENSG00000171100ENST00000370396p.L43Lc.129A>GSubstitution - coding silent
ATP2B3ENSG00000067842ENST00000263519p.V230Mc.688G>ASubstitution - Missense
ATP2B3ENSG00000067842ENST00000359149p.V230Mc.688G>ASubstitution - Missense
FAM58AENSG00000147382ENST00000406277p.D242Nc.724G>ASubstitution - Missense
LDOC1ENSG00000182195ENST00000370526p.Y74Cc.221A>GSubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.P285Sc.853C>TSubstitution - Missense
URGCPENSG00000106608ENST00000453200p.A260Vc.779C>TSubstitution - Missense
SPDYE1ENSG00000136206ENST00000258704p.S114Sc.342G>ASubstitution - coding silent
XM_291344.4p.R904Hc.2711G>ASubstitution - Missense
ARHGEF6ENSG00000129675ENST00000250617p.E767Kc.2299G>ASubstitution - Missense
GPR101ENSG00000165370ENST00000298110p.S126Sc.378A>GSubstitution - coding silent
HNRNPUL1ENSG00000105323ENST00000392006p.T849Ac.2545A>GSubstitution - Missense
AVL9ENSG00000105778ENST00000318709p.?c.609+4C>TUnknown
AVL9ENSG00000105778ENST00000404479p.?c.609+4C>TUnknown
FKBP9ENSG00000122642ENST00000242209p.G180Rc.538G>ASubstitution - Missense
BMPERENSG00000164619ENST00000297161p.C259Cc.777T>CSubstitution - coding silent
SPTBN4ENSG00000160460ENST00000352632p.R112Cc.334C>TSubstitution - Missense
EGLN2ENSG00000269858ENST00000303961p.?c.1169-1G>AUnknown
CYP2A7ENSG00000198077ENST00000301146p.E89Dc.267G>TSubstitution - Missense
ENST00000301171p.S218Sc.654G>ASubstitution - coding silent
PLEKHG2ENSG00000090924ENST00000409794p.R1350Wc.4048C>TSubstitution - Missense
ZNF780AENSG00000197782ENST00000455521p.L237Fc.709C>TSubstitution - Missense
ZNF780AENSG00000197782ENST00000340963p.L202Fc.604C>TSubstitution - Missense
FBXO27ENSG00000161243ENST00000292853p.V188Vc.564C>TSubstitution - coding silent
IFNL3ENSG00000197110ENST00000413851p.C5Yc.14G>ASubstitution - Missense
EEF2ENSG00000167658ENST00000309311p.R716Hc.2147G>ASubstitution - Missense
ENST00000248668_v71p.R268Hc.803G>ASubstitution - Missense
PAF1ENSG00000006712ENST00000221265p.R420Qc.1259G>ASubstitution - Missense
PLEKHG2ENSG00000090924ENST00000409794p.E369Vc.1106A>TSubstitution - Missense
PLEKHG2ENSG00000090924ENST00000458508p.E310Vc.929A>TSubstitution - Missense
VPS13AENSG00000197969ENST00000357409p.P1877Sc.5629C>TSubstitution - Missense
NOTCH1ENSG00000148400ENST00000277541p.Y2074Yc.6222C>TSubstitution - coding silent
EGFL7ENSG00000172889ENST00000371698p.K271fs*>2c.808_811delAAGADeletion - Frameshift
RORBENSG00000198963ENST00000376896p.R309Cc.925C>TSubstitution - Missense
TRPM6ENSG00000119121ENST00000360774p.E1408Kc.4222G>ASubstitution - Missense
SDCCAG3ENSG00000165689ENST00000357365p.C371Cc.1113C>TSubstitution - coding silent
SEC16AENSG00000148396ENST00000313050p.H971Hc.2913C>TSubstitution - coding silent
SLC2A6ENSG00000160326ENST00000371899p.K312fs*16c.933delCDeletion - Frameshift
VAV2ENSG00000160293ENST00000371850p.L453Lc.1357C>TSubstitution - coding silent
CSF1RENSG00000182578ENST00000286301p.A273Ac.819C>TSubstitution - coding silent
SETXENSG00000107290ENST00000224140p.R2540*c.7618C>TSubstitution - Nonsense
TSC1ENSG00000165699ENST00000298552p.T339Ac.1015A>GSubstitution - Missense
SH3RF2ENSG00000156463ENST00000359120p.K131Nc.393G>TSubstitution - Missense
LARSENSG00000133706ENST00000394434p.P51Pc.153A>GSubstitution - coding silent
JAKMIP2ENSG00000176049ENST00000265272p.L677Pc.2030T>CSubstitution - Missense
SPINK5ENSG00000133710ENST00000256084p.E418Dc.1254A>CSubstitution - Missense
PCDHGA12ENSG00000253159ENST00000252085p.A476Tc.1426G>ASubstitution - Missense
FCHSD1ENSG00000197948ENST00000435817p.L401Lc.1201T>CSubstitution - coding silent
PCDH12ENSG00000113555ENST00000231484p.S1178_S1179insGSSGSSc.3525_3526ins18Insertion - In frame
PCDH12ENSG00000113555ENST00000231484p.L952Fc.2854C>TSubstitution - Missense
PCDHGB1ENSG00000254221ENST00000523390p.A236Vc.707C>TSubstitution - Missense
PCDHGA10ENSG00000253846ENST00000398610p.N484Nc.1452C>TSubstitution - coding silent
JMJD8ENSG00000161999ENST00000293882p.T114Tc.342G>ASubstitution - coding silent
HYDINENSG00000157423ENST00000538248p.S558Fc.1673C>TSubstitution - Missense
HYDINENSG00000157423ENST00000393550p.S531Fc.1592C>TSubstitution - Missense
HYDINENSG00000157423ENST00000288168p.S548Fc.1643C>TSubstitution - Missense
WDR90ENSG00000161996ENST00000293879p.?c.280-10G>AUnknown
ENST00000316490_v65p.C4299Cc.12897C>TSubstitution - coding silent
ENST00000316490p.C4251Sc.12752G>CSubstitution - Missense
TANGO6ENSG00000103047ENST00000261778p.?c.2643+4A>GUnknown
HAS3ENSG00000103044ENST00000219322p.A88Tc.262G>ASubstitution - Missense
FZD6ENSG00000164930ENST00000522566p.D579Vc.1736A>TSubstitution - Missense
XKR6ENSG00000171044ENST00000416569p.G628Rc.1882G>ASubstitution - Missense
UBR5ENSG00000104517ENST00000520539p.R2404Hc.7211G>ASubstitution - Missense
STAG3ENSG00000066923ENST00000426455p.?c.2802+5G>AUnknown
SUN3ENSG00000164744ENST00000453071p.?c.263+7C>TUnknown
ABCA13ENSG00000179869ENST00000435803p.V4463Vc.13389G>CSubstitution - coding silent
SMARCD3ENSG00000082014ENST00000392811p.T222Mc.665C>TSubstitution - Missense
NUB1ENSG00000013374ENST00000566856p.V404Mc.1210G>ASubstitution - Missense
OGDHENSG00000105953ENST00000222673p.V144Vc.432A>GSubstitution - coding silent
OGDHENSG00000105953ENST00000443864p.V144Vc.432A>GSubstitution - coding silent
OGDHENSG00000105953ENST00000443864p.R356Cc.1066C>TSubstitution - Missense
AOC1ENSG00000002726ENST00000360937p.R190fs*18c.563delCDeletion - Frameshift
NOS3ENSG00000164867ENST00000297494p.E64Vc.191A>TSubstitution - Missense
MICALL2ENSG00000164877ENST00000297508p.R873Wc.2617C>TSubstitution - Missense
ZNF783ENSG00000204946ENST00000434415p.R324Wc.970C>TSubstitution - Missense
ZNF777ENSG00000196453ENST00000247930p.L766Mc.2296C>ASubstitution - Missense
ZNF746ENSG00000181220ENST00000340622p.R384Qc.1151G>ASubstitution - Missense
REPIN1ENSG00000214022ENST00000489432p.P15Pc.45T>CSubstitution - coding silent
REPIN1ENSG00000214022ENST00000489432p.G494Dc.1481G>ASubstitution - Missense
REPIN1ENSG00000214022ENST00000397281p.G437Dc.1310G>ASubstitution - Missense
REPIN1ENSG00000214022ENST00000489432p.R536Hc.1607G>ASubstitution - Missense
TAS2R41ENSG00000221855ENST00000408916p.W150fs*2c.442delTDeletion - Frameshift
PPP1R3AENSG00000154415ENST00000284601p.N476fs*4c.1428delTDeletion - Frameshift
ENST00000257721p.V410Gc.1229T>GSubstitution - Missense
CDHR3ENSG00000128536ENST00000317716p.T689Mc.2066C>TSubstitution - Missense
CDHR3ENSG00000128536ENST00000317716p.T689Mc.2066C>TSubstitution - Missense
CDHR3ENSG00000128536ENST00000542731p.T689Mc.2066C>TSubstitution - Missense
CDHR3ENSG00000128536ENST00000343407p.?c.779+1G>AUnknown
BAG6ENSG00000204463ENST00000404765p.D796Dc.2388C>TSubstitution - coding silent
SRPK2ENSG00000135250ENST00000357311p.G468Sc.1402G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Ac.418T>GSubstitution - Missense
ENST00000539307p.S177Ac.529T>GSubstitution - Missense
FLOT1ENSG00000137312ENST00000376389p.F3fs*44c.8delTDeletion - Frameshift
DDR1ENSG00000204580ENST00000376575p.R169fs*6c.501delCDeletion - Frameshift
DDR1ENSG00000204580ENST00000324771p.R169fs*6c.501delCDeletion - Frameshift
DDR1ENSG00000204580ENST00000376575p.R248Wc.742C>TSubstitution - Missense
DDR1ENSG00000204580ENST00000324771p.R248Wc.742C>TSubstitution - Missense
DDR1ENSG00000204580ENST00000418800p.R248Wc.742C>TSubstitution - Missense
HLA-GENSG00000204632ENST00000360323p.R135Hc.404G>ASubstitution - Missense
TRIM15ENSG00000204610ENST00000376694p.A189Vc.566C>TSubstitution - Missense
PRR3ENSG00000204576ENST00000376560p.K167fs*>22c.496delADeletion - Frameshift
TENM2ENSG00000145934ENST00000518659p.R1740Cc.5218C>TSubstitution - Missense
TENM2ENSG00000145934ENST00000519204p.R1619Cc.4855C>TSubstitution - Missense
HIST1H2AHENSG00000184825ENST00000377459p.L116Lc.346C>TSubstitution - coding silent
POM121L2ENSG00000158553ENST00000444565p.K288fs*21c.863delADeletion - Frameshift
HIST1H4JENSG00000197238ENST00000355057p.Y89Hc.265T>CSubstitution - Missense
PGBD1ENSG00000137338ENST00000259883p.N437Ic.1310A>TSubstitution - Missense
C1QTNF2ENSG00000145861ENST00000393975p.D269Ec.807T>GSubstitution - Missense
FAM114A2ENSG00000055147ENST00000351797p.V148Mc.442G>ASubstitution - Missense
ENST00000377643p.D942Dc.2826C>TSubstitution - coding silent
FAM71BENSG00000170613ENST00000302938p.A314Ac.942G>ASubstitution - coding silent
TCOF1ENSG00000070814ENST00000323668p.D1374fs*>38c.4113delADeletion - Frameshift
NDST1ENSG00000070614ENST00000261797p.R329Cc.985C>TSubstitution - Missense
TNIP1ENSG00000145901ENST00000315050p.A578Gc.1733C>GSubstitution - Missense
PCDHB7ENSG00000113212ENST00000231137p.R7Rc.21T>CSubstitution - coding silent
KIAA0196ENSG00000164961ENST00000318410p.G822Vc.2465G>TSubstitution - Missense
FAM84BENSG00000168672ENST00000304916p.E248Dc.744G>TSubstitution - Missense
POU5F1BENSG00000212993ENST00000465342p.P119fs*4c.351delCDeletion - Frameshift
LRP2ENSG00000081479ENST00000263816p.A4033Vc.12098C>TSubstitution - Missense
TTC21BENSG00000123607ENST00000243344p.Q1172*c.3514C>TSubstitution - Nonsense
XIRP2ENSG00000163092ENST00000295237p.S2471Sc.7413C>TSubstitution - coding silent
TOP3BENSG00000100038ENST00000357179p.R261*c.781C>TSubstitution - Nonsense
ENST00000215938p.A167Tc.499G>ASubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
THAP7ENSG00000184436ENST00000399133p.R290Hc.869G>ASubstitution - Missense
SDF2L1ENSG00000128228ENST00000248958p.R156Hc.467G>ASubstitution - Missense
TOP3BENSG00000100038ENST00000357179p.A405Vc.1214C>TSubstitution - Missense
TOP3BENSG00000100038ENST00000357179p.A405Vc.1214C>TSubstitution - Missense
TOP3BENSG00000100038ENST00000357179p.R261*c.781C>TSubstitution - Nonsense
DPP6ENSG00000130226ENST00000332007p.H612Hc.1836C>TSubstitution - coding silent
MNX1ENSG00000130675ENST00000543409p.C10Rc.28T>CSubstitution - Missense
UBE3CENSG00000009335ENST00000348165p.A1073Vc.3218C>TSubstitution - Missense
WDR60ENSG00000126870ENST00000407559p.R746Qc.2237G>ASubstitution - Missense
VIPR2ENSG00000106018ENST00000262178p.I213Tc.638T>CSubstitution - Missense
CENPCENSG00000145241ENST00000273853p.R206fs*5c.616_617insAInsertion - Frameshift
UBA6ENSG00000033178ENST00000322244p.S675Ic.2024G>TSubstitution - Missense
CEP135ENSG00000174799ENST00000257287p.R418*c.1252C>TSubstitution - Nonsense
CEP135ENSG00000174799ENST00000257287p.?c.1858-7A>GUnknown
C4orf50ENSG00000181215ENST00000531445p.R695Hc.2084G>ASubstitution - Missense
JAKMIP1ENSG00000152969ENST00000409021p.?c.129+6G>TUnknown
JAKMIP1ENSG00000152969ENST00000282924p.?c.129+6G>TUnknown
LPHN3ENSG00000150471ENST00000514591p.?c.2425-10T>CUnknown
LPHN3ENSG00000150471ENST00000512091p.?c.2425-10T>CUnknown
NBASENSG00000151779ENST00000281513p.N2155Dc.6463A>GSubstitution - Missense
MBD5ENSG00000204406ENST00000407073p.A225Sc.673G>TSubstitution - Missense
ENST00000334436p.T775Mc.2324C>TSubstitution - Missense
SLC35C2ENSG00000080189ENST00000372227p.F42Sc.125T>CSubstitution - Missense
EYA2ENSG00000064655ENST00000327619p.D246Nc.736G>ASubstitution - Missense
ZMYND8ENSG00000101040ENST00000461685p.C244Yc.731G>ASubstitution - Missense
HNF4AENSG00000101076ENST00000316099p.I474Tc.1421T>CSubstitution - Missense
HNF4AENSG00000101076ENST00000316673p.I452Tc.1355T>CSubstitution - Missense
KCNK15ENSG00000124249ENST00000372861p.Y191Cc.572A>GSubstitution - Missense
KCNS1ENSG00000124134ENST00000306117p.R348Hc.1043G>ASubstitution - Missense
MATN4ENSG00000124159ENST00000372756p.A405Tc.1213G>ASubstitution - Missense
GTSF1LENSG00000124196ENST00000373003p.P122fs*>27c.363delTDeletion - Frameshift
JPH2ENSG00000149596ENST00000372980p.D333Nc.997G>ASubstitution - Missense
JPH2ENSG00000149596ENST00000372980p.S262Pc.784T>CSubstitution - Missense
ZNF227ENSG00000131115ENST00000313040p.G330Dc.989G>ASubstitution - Missense
MAVSENSG00000088888ENST00000428216p.R355Hc.1064G>ASubstitution - Missense
TOP1ENSG00000198900ENST00000361337p.?c.59-5T>CUnknown
MEGF8ENSG00000105429ENST00000334370p.A2472Ec.7415C>ASubstitution - Missense
FSD1ENSG00000105255ENST00000221856p.V297Lc.889G>TSubstitution - Missense
MPNDENSG00000008382ENST00000262966p.R290Wc.868C>TSubstitution - Missense
TEX101ENSG00000131126ENST00000253435p.?c.15+5A>GUnknown
ZNF575ENSG00000176472ENST00000314228p.D151Nc.451G>ASubstitution - Missense
CCDC94ENSG00000105248ENST00000262962p.Y49Cc.146A>GSubstitution - Missense
DEDD2ENSG00000160570ENST00000336034p.T236Tc.708C>TSubstitution - coding silent
TMEM38AENSG00000072954ENST00000187762p.C253Cc.759C>TSubstitution - coding silent
SLC27A1ENSG00000130304ENST00000442725p.?c.997-8T>CUnknown
SLC27A1ENSG00000130304ENST00000252595p.?c.997-8T>CUnknown
CYP4F2ENSG00000186115ENST00000221700p.D309Dc.927C>TSubstitution - coding silent
EMR2ENSG00000127507ENST00000315576p.L702Ic.2104C>ASubstitution - Missense
DCTN5ENSG00000166847ENST00000300087p.L7Fc.19C>TSubstitution - Missense
CCNFENSG00000162063ENST00000397066p.P156Lc.467C>TSubstitution - Missense
CCNFENSG00000162063ENST00000397066p.P156Lc.467C>TSubstitution - Missense
C19orf57ENSG00000132016ENST00000346736p.R352Sc.1056G>TSubstitution - Missense
ENST00000358463_v68p.A41Ac.123C>TSubstitution - coding silent
C16orf47ENSG00000197445ENST00000358463p.A41Ac.123C>TSubstitution - coding silent
ENST00000293882_v62p.T114Tc.342G>ASubstitution - coding silent
STK19ENSG00000204344ENST00000375333p.G62Dc.185G>ASubstitution - Missense
TNXBENSG00000168477ENST00000375247p.R2524Cc.7570C>TSubstitution - Missense
TNXBENSG00000168477ENST00000375244p.R2437Cc.7309C>TSubstitution - Missense
TNXBENSG00000168477ENST00000375244p.P2412Pc.7236G>ASubstitution - coding silent
TNXBENSG00000168477ENST00000375247p.R1849Wc.5545C>TSubstitution - Missense
TNXBENSG00000168477ENST00000375244p.R1762Wc.5284C>TSubstitution - Missense
TUBB2BENSG00000137285ENST00000259818p.D404Dc.1212C>TSubstitution - coding silent
VWA7ENSG00000204396ENST00000375688p.P218Sc.652C>TSubstitution - Missense
VARSENSG00000204394ENST00000375663p.M447Vc.1339A>GSubstitution - Missense
MIER3ENSG00000155545ENST00000381213p.?c.522+2T>CUnknown
RGS14ENSG00000169220ENST00000408923p.?c.68-4G>AUnknown
RGS14ENSG00000169220ENST00000408923p.L240Fc.718C>TSubstitution - Missense
B4GALT7ENSG00000027847ENST00000029410p.L240Fc.718C>TSubstitution - Missense
ZFP2ENSG00000198939ENST00000361362p.D82Yc.244G>TSubstitution - Missense
AHRRENSG00000063438ENST00000316418p.M155Tc.464T>CSubstitution - Missense
UNC5AENSG00000113763ENST00000329542p.G634fs*3c.1896delGDeletion - Frameshift
TENM3ENSG00000218336ENST00000511685p.T573_E574insTc.1715_1716insCACInsertion - In frame
SLIT3ENSG00000184347ENST00000519560p.S1334Sc.4002C>TSubstitution - coding silent
NM_012188.3p.Y55Cc.164A>GSubstitution - Missense
DDX60LENSG00000181381ENST00000260184p.?c.1678-4G>AUnknown
OPA1ENSG00000198836ENST00000361510p.P127Pc.381G>ASubstitution - coding silent
PROM1ENSG00000007062ENST00000447510p.R299Wc.895C>TSubstitution - Missense
DNAJB11ENSG00000090520ENST00000439351p.L11Pc.32T>CSubstitution - Missense
AHSGENSG00000145192ENST00000411641p.Q253Rc.758A>GSubstitution - Missense
CLCN2ENSG00000114859ENST00000265593p.P381fs*35c.1142delCDeletion - Frameshift
MAP3K13ENSG00000073803ENST00000424227p.V182Ic.544G>ASubstitution - Missense
MAP3K13ENSG00000073803ENST00000424227p.V182Ic.544G>ASubstitution - Missense
MAP3K13ENSG00000073803ENST00000424227p.R837Cc.2509C>TSubstitution - Missense
MAP3K13ENSG00000073803ENST00000424227p.R837Cc.2509C>TSubstitution - Missense
USP20ENSG00000136878ENST00000315480p.C53Cc.159C>TSubstitution - coding silent
USP20ENSG00000136878ENST00000372429p.R440Hc.1319G>ASubstitution - Missense
USP20ENSG00000136878ENST00000372429p.R440Hc.1319G>ASubstitution - Missense
FIBCD1ENSG00000130720ENST00000372338p.R276Cc.826C>TSubstitution - Missense
SPTAN1ENSG00000197694ENST00000372731p.D1241Gc.3722A>GSubstitution - Missense
SPTAN1ENSG00000197694ENST00000372739p.A2443Ac.7329C>TSubstitution - coding silent
TBC1D13ENSG00000107021ENST00000372648p.L353Vc.1057C>GSubstitution - Missense
GAPVD1ENSG00000165219ENST00000394105p.G602*c.1804G>TSubstitution - Nonsense
ANGPTL2ENSG00000136859ENST00000373425p.P296Pc.888G>ASubstitution - coding silent
SLC2A8ENSG00000136856ENST00000373371p.T130Ac.388A>GSubstitution - Missense
CNTRLENSG00000119397ENST00000373855p.L894Pc.2681T>CSubstitution - Missense
DAB2IPENSG00000136848ENST00000259371p.E206Gc.617A>GSubstitution - Missense
DAB2IPENSG00000136848ENST00000259371p.F320Lc.958T>CSubstitution - Missense
DAB2IPENSG00000136848ENST00000309989p.F224Lc.670T>CSubstitution - Missense
RABGAP1ENSG00000011454ENST00000373647p.F147fs*4c.437delTDeletion - Frameshift
NM_012197.2p.F75fs*4c.221delTDeletion - Frameshift
DENND1AENSG00000119522ENST00000394219p.?c.772-8A>GUnknown
TNCENSG00000041982ENST00000350763p.Y1921Cc.5762A>GSubstitution - Missense
PAPPAENSG00000182752ENST00000328252p.A726Dc.2177C>ASubstitution - Missense
CDK5RAP2ENSG00000136861ENST00000349780p.R1851Hc.5552G>ASubstitution - Missense
NM_005607p.S329Ic.986G>TSubstitution - Missense
PTK2ENSG00000169398ENST00000340930p.S307Ic.920G>TSubstitution - Missense
ENST00000395214p.S217Ic.650G>TSubstitution - Missense
ZNF618ENSG00000157657ENST00000288466p.R563Hc.1688G>ASubstitution - Missense
ZNF618ENSG00000157657ENST00000288466p.R563Hc.1688G>ASubstitution - Missense
ZNF618ENSG00000157657ENST00000288466p.R722Wc.2164C>TSubstitution - Missense
ZNF618ENSG00000157657ENST00000374126p.R815Wc.2443C>TSubstitution - Missense
ZNF618ENSG00000157657ENST00000288466p.R722Wc.2164C>TSubstitution - Missense
ADCY8ENSG00000155897ENST00000286355p.P740Lc.2219C>TSubstitution - Missense
KCNQ3ENSG00000184156ENST00000388996p.V464fs*2c.1391_1394delTTGGDeletion - Frameshift
KCNQ3ENSG00000184156ENST00000388996p.R431Cc.1291C>TSubstitution - Missense
KCNQ3ENSG00000184156ENST00000388996p.D285Dc.855C>TSubstitution - coding silent
KCNQ3ENSG00000184156ENST00000388996p.R230Cc.688C>TSubstitution - Missense
C8orf48ENSG00000164743ENST00000297324p.T22Ic.65C>TSubstitution - Missense
KCNK9ENSG00000169427ENST00000303015p.D27Dc.81C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000366942p.K573Qc.1717A>CSubstitution - Missense
CCSAPENSG00000154429ENST00000366686p.L104Lc.310T>CSubstitution - coding silent
ADORA1ENSG00000163485ENST00000367235p.I48Tc.143T>CSubstitution - Missense
UBR4ENSG00000127481ENST00000375225p.G109Rc.325G>ASubstitution - Missense
ADARENSG00000160710ENST00000292205p.S702Gc.2104A>GSubstitution - Missense
C1orf195ENSG00000204464ENST00000424792p.P2Lc.5C>TSubstitution - Missense
DCST1ENSG00000163357ENST00000368419p.T96Ic.287C>TSubstitution - Missense
ARHGEF2ENSG00000116584ENST00000361247p.?c.725-6C>AUnknown
ARHGEF2ENSG00000116584ENST00000368315p.?c.728-6C>AUnknown
ARHGEF11ENSG00000132694ENST00000315174p.E44Dc.132G>TSubstitution - Missense
PIAS3ENSG00000131788ENST00000369299p.R102Cc.304C>TSubstitution - Missense
CHD1LENSG00000131778ENST00000369258p.A508Ac.1524C>TSubstitution - coding silent
EBPLENSG00000123179ENST00000378282p.?c.362+3A>GUnknown
CSF1ENSG00000184371ENST00000329608p.D225Ac.674A>CSubstitution - Missense
MAD2L2ENSG00000116670ENST00000376672p.A169Tc.505G>ASubstitution - Missense
CDK17ENSG00000059758ENST00000543119p.A219Vc.656C>TSubstitution - Missense
ATP12AENSG00000075673ENST00000218548p.L870Lc.2610C>TSubstitution - coding silent
ACVRL1ENSG00000139567ENST00000550683p.H369Rc.1106A>GSubstitution - Missense
BEST3ENSG00000127325ENST00000331471p.A40Pc.118G>CSubstitution - Missense
ANKLE2ENSG00000176915ENST00000337516p.Q307*c.919C>TSubstitution - Nonsense
BSCL2ENSG00000168000ENST00000433053p.P295Lc.884C>TSubstitution - Missense
UBQLN3ENSG00000175520ENST00000311659p.L302Pc.905T>CSubstitution - Missense
OR8I2ENSG00000172154ENST00000302124p.P79Pc.237T>CSubstitution - coding silent
CARSENSG00000110619ENST00000401769p.I614Ic.1842T>CSubstitution - coding silent
WT1ENSG00000184937ENST00000332351p.R462Qc.1385G>ASubstitution - Missense
MYBPC3ENSG00000134571ENST00000545968p.V846Ic.2536G>ASubstitution - Missense
MYBPC3ENSG00000134571ENST00000545968p.G407Dc.1220G>ASubstitution - Missense
KDELC2ENSG00000178202ENST00000434945p.K445Rc.1334A>GSubstitution - Missense
ENST00000349637p.R5427Qc.16280G>ASubstitution - Missense
ARNTLENSG00000133794ENST00000389708p.V341Ac.1022T>CSubstitution - Missense
TNNT3ENSG00000130595ENST00000381561p.?c.17+8C>TUnknown
ASCC1ENSG00000138303ENST00000342444p.R145*c.433C>TSubstitution - Nonsense
MYOFENSG00000138119ENST00000371501p.E1095Dc.3285A>CSubstitution - Missense
ENST00000309584_v70p.R185Qc.554G>ASubstitution - Missense
PPAPDC1AENSG00000203805ENST00000369073p.R232*c.694C>TSubstitution - Nonsense
BCCIPENSG00000107949ENST00000368759p.S223Sc.669T>CSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369351p.R681Cc.2041C>TSubstitution - Missense
RIMBP2ENSG00000060709ENST00000536002p.S51Sc.153C>TSubstitution - coding silent
PAPOLAENSG00000090060ENST00000557320p.R60Hc.179G>ASubstitution - Missense
FN1ENSG00000115414ENST00000426059p.R379*c.1135C>TSubstitution - Nonsense
ARHGAP25ENSG00000163219ENST00000497079p.A65Vc.194C>TSubstitution - Missense
ARNTLENSG00000133794ENST00000389708p.?c.180-8delcUnknown
VDRENSG00000111424ENST00000535672p.P340Pc.1020G>ASubstitution - coding silent
PCDHA5ENSG00000204965ENST00000529619p.A617Vc.1850C>TSubstitution - Missense
ICKENSG00000112144ENST00000350082p.R197Gc.589A>GSubstitution - Missense
GCLCENSG00000001084ENST00000229416p.H584Rc.1751A>GSubstitution - Missense
FAM83BENSG00000168143ENST00000306858p.M227fs*7c.675delADeletion - Frameshift
FAM83BENSG00000168143ENST00000306858p.?c.734+2T>CUnknown
TP53ENSG00000141510ENST00000420246p.R273Cc.817C>TSubstitution - Missense
CD2APENSG00000198087ENST00000359314p.S556Sc.1668T>CSubstitution - coding silent
MCM3ENSG00000112118ENST00000229854p.V217Lc.649G>TSubstitution - Missense
LRRC73ENSG00000204052ENST00000372441p.T202Ac.604A>GSubstitution - Missense
POLR1CENSG00000171453ENST00000372389p.?c.502+9T>CUnknown
POLR1CENSG00000171453ENST00000304004p.?c.502+9T>CUnknown
CAPN11ENSG00000137225ENST00000398776p.Y688Hc.2062T>CSubstitution - Missense
SLC35B2ENSG00000157593ENST00000393812p.G397Wc.1189G>TSubstitution - Missense
ENPP5ENSG00000112796ENST00000371383p.I460fs*10c.1375_1376insAInsertion - Frameshift
TDRD6ENSG00000180113ENST00000316081p.H167Hc.501C>TSubstitution - coding silent
COL11A2ENSG00000204248ENST00000341947p.P921fs*63c.2762delCDeletion - Frameshift
COL11A2ENSG00000204248ENST00000341947p.G187Rc.559G>ASubstitution - Missense
VPS52ENSG00000223501ENST00000445902p.G372Rc.1114G>ASubstitution - Missense
ZBTB22ENSG00000236104ENST00000418724p.Y286Hc.856T>CSubstitution - Missense
DAXXENSG00000204209ENST00000266000p.G250fs*4c.747delCDeletion - Frameshift
SYNGAP1ENSG00000197283ENST00000293748p.?c.3408+9A>CUnknown
SETMARENSG00000170364ENST00000430981p.F139Ic.415T>ASubstitution - Missense
MAP4ENSG00000047849ENST00000420772p.R591Hc.1772G>ASubstitution - Missense
IFRD2ENSG00000214706ENST00000429673p.R394Cc.1180C>TSubstitution - Missense
NT5DC2ENSG00000168268ENST00000422318p.D132Gc.395A>GSubstitution - Missense
MAP3K13ENSG00000073803ENST00000535426p.R693Cc.2077C>TSubstitution - Missense
KIAA1407ENSG00000163617ENST00000545063p.Q302Hc.906G>TSubstitution - Missense
ACPL2ENSG00000155893ENST00000393007p.R243Hc.728G>ASubstitution - Missense
ENST00000319822p.K1025Kc.3075G>ASubstitution - coding silent
ZNF638ENSG00000075292ENST00000377802p.C454Rc.1360T>CSubstitution - Missense
DIS3L2ENSG00000144535ENST00000409401p.S31Sc.93G>ASubstitution - coding silent
HDAC4ENSG00000068024ENST00000541256p.R252Hc.755G>ASubstitution - Missense
KIF1AENSG00000130294ENST00000498729p.L1722Pc.5165T>CSubstitution - Missense
MYT1LENSG00000186487ENST00000428368p.A79Ac.237C>TSubstitution - coding silent
NHEJ1ENSG00000187736ENST00000409720p.V27Vc.81T>CSubstitution - coding silent
GRB14ENSG00000115290ENST00000543549p.P214Lc.641C>TSubstitution - Missense
TUBA3DENSG00000075886ENST00000321253p.T94Tc.282C>TSubstitution - coding silent
AP1B1ENSG00000100280ENST00000415447p.P517Tc.1549C>ASubstitution - Missense
DEPDC5ENSG00000100150ENST00000400246p.P829Lc.2486C>TSubstitution - Missense
TMPRSS6ENSG00000187045ENST00000381792p.P463Tc.1387C>ASubstitution - Missense
MAP4K4ENSG00000071054ENST00000350878p.P511Sc.1531C>TSubstitution - Missense
CECR5ENSG00000069998ENST00000155674p.?c.657-3C>TUnknown
MATN4ENSG00000124159ENST00000372754p.A446Tc.1336G>ASubstitution - Missense
SLC35C2ENSG00000080189ENST00000543605p.F71Sc.212T>CSubstitution - Missense
COL20A1ENSG00000101203ENST00000422202p.L546Lc.1638G>ASubstitution - coding silent
CXADRENSG00000154639ENST00000400169p.P185Sc.553C>TSubstitution - Missense
CATSPERDENSG00000174898ENST00000381614p.I176Tc.527T>CSubstitution - Missense
FUT6ENSG00000156413ENST00000592563p.N262Nc.786C>TSubstitution - coding silent
MED16ENSG00000175221ENST00000312090p.S343Sc.1029G>ASubstitution - coding silent
EML2ENSG00000125746ENST00000536630p.V643Ac.1928T>CSubstitution - Missense
EML2ENSG00000125746ENST00000536630p.A439Tc.1315G>ASubstitution - Missense
ARHGAP35ENSG00000160007ENST00000404338p.T136Tc.408T>CSubstitution - coding silent
PTPRSENSG00000105426ENST00000372412p.R1830Qc.5489G>ASubstitution - Missense
HNRNPUL1ENSG00000105323ENST00000378215p.R362Cc.1084C>TSubstitution - Missense
HNRNPUL1ENSG00000105323ENST00000378215p.T745Ac.2233A>GSubstitution - Missense
MAST3ENSG00000099308ENST00000262811p.?c.160+3G>CUnknown
UPF1ENSG00000005007ENST00000599848p.T805Mc.2414C>TSubstitution - Missense
DCCENSG00000187323ENST00000412726p.T594Ac.1780A>GSubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.A1757Vc.5270C>TSubstitution - Missense
EPN3ENSG00000049283ENST00000537145p.R118Wc.352C>TSubstitution - Missense
CA10ENSG00000154975ENST00000340813p.C302Yc.905G>ASubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.A1920Ac.5760C>TSubstitution - coding silent
SDK2ENSG00000069188ENST00000392650p.T1296Mc.3887C>TSubstitution - Missense
ITGA2BENSG00000005961ENST00000377068p.F72Fc.216C>TSubstitution - coding silent
TPM1ENSG00000140416ENST00000403994p.E122Gc.365A>GSubstitution - Missense
CPNE6ENSG00000100884ENST00000537691p.V347Vc.1041G>ASubstitution - coding silent
NFATC4ENSG00000100968ENST00000556279p.R339Lc.1016G>TSubstitution - Missense
NFATC4ENSG00000100968ENST00000555453p.R295Lc.884G>TSubstitution - Missense
LPHN2ENSG00000117114ENST00000370715p.T838Tc.2514C>ASubstitution - coding silent
MARK3ENSG00000075413ENST00000429436p.G240Wc.718G>TSubstitution - Missense
DOCK7ENSG00000116641ENST00000251157p.R231Hc.692G>ASubstitution - Missense
DOCK7ENSG00000116641ENST00000404627p.R231Hc.692G>ASubstitution - Missense
ACOT7ENSG00000097021ENST00000377855p.R109Hc.326G>ASubstitution - Missense
LPHN2ENSG00000117114ENST00000449420p.T719Nc.2156C>ASubstitution - Missense
MEAF6ENSG00000163875ENST00000373074p.R37Cc.109C>TSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.T341Nc.1022C>ASubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.R5133*c.15397C>TSubstitution - Nonsense
DMAP1ENSG00000178028ENST00000437511p.G236Dc.707G>ASubstitution - Missense
ERI3ENSG00000117419ENST00000372259p.V76Ac.227T>CSubstitution - Missense
ERI3ENSG00000117419ENST00000456170p.V30Ac.89T>CSubstitution - Missense
ZNF124ENSG00000196418ENST00000543802p.R189Hc.566G>ASubstitution - Missense
RHCEENSG00000188672ENST00000374352p.G262Gc.786C>TSubstitution - coding silent
RHCEENSG00000188672ENST00000413854p.G278Gc.834C>TSubstitution - coding silent
ENST00000453185p.A165Ac.495G>ASubstitution - coding silent
SERINC2ENSG00000168528ENST00000373710p.T430Mc.1289C>TSubstitution - Missense
ENST00000328843_v70p.A2316Tc.6946G>ASubstitution - Missense
MCM3ENSG00000112118ENST00000596288p.V765Ac.2294T>CSubstitution - Missense
MCM3ENSG00000112118ENST00000596288p.V262Lc.784G>TSubstitution - Missense
USP49ENSG00000164663ENST00000394253p.G608Rc.1822G>ASubstitution - Missense
TRERF1ENSG00000124496ENST00000541110p.T794Sc.2381C>GSubstitution - Missense
TRERF1ENSG00000124496ENST00000372917p.T691Sc.2072C>GSubstitution - Missense
SLC29A1ENSG00000112759ENST00000313248p.A139Tc.415G>ASubstitution - Missense
SLC17A2ENSG00000112337ENST00000377850p.Q434Rc.1301A>GSubstitution - Missense
TRIM15ENSG00000204610ENST00000376688p.A42Vc.125C>TSubstitution - Missense
HLA-DQB2ENSG00000232629ENST00000435145p.V169Ac.506T>CSubstitution - Missense
TIAM2ENSG00000146426ENST00000456144p.A618Ac.1854T>GSubstitution - coding silent
PDE10AENSG00000112541ENST00000539869p.L368Lc.1104G>ASubstitution - coding silent
LRP11ENSG00000120256ENST00000367368p.N291Nc.873C>TSubstitution - coding silent
AIM1ENSG00000112297ENST00000535438p.G301Gc.903A>GSubstitution - coding silent
TNIP1ENSG00000145901ENST00000523338p.A578Gc.1733C>GSubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.H2317Rc.6950A>GSubstitution - Missense
PRRC1ENSG00000164244ENST00000512635p.A181Ac.543A>TSubstitution - coding silent
PKD2L2ENSG00000078795ENST00000508883p.C363Yc.1088G>ASubstitution - Missense
PPARGC1BENSG00000155846ENST00000394320p.R967Cc.2899C>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000507625p.?c.2629-10T>CUnknown
RUFY3ENSG00000018189ENST00000536664p.A421Vc.1262C>TSubstitution - Missense
ABLIM2ENSG00000163995ENST00000361737p.T440Ic.1319C>TSubstitution - Missense
ABLIM2ENSG00000163995ENST00000361737p.G119Rc.355G>ASubstitution - Missense
ABLIM2ENSG00000163995ENST00000296372p.G119Rc.355G>ASubstitution - Missense
SEC31AENSG00000138674ENST00000264405p.S289Ac.865T>GSubstitution - Missense
ENST00000402738_v70p.D518Ec.1554T>ASubstitution - Missense
TRPV3ENSG00000167723ENST00000301365p.?c.466+7G>AUnknown
KIF6ENSG00000164627ENST00000538893p.L204fs*1c.611delTDeletion - Frameshift
ABCF2ENSG00000033050ENST00000222388p.P153fs*10c.458delCDeletion - Frameshift
ENST00000328843_v70p.T4421fs*34c.13261_13262insAInsertion - Frameshift
EIF2AK1ENSG00000086232ENST00000536084p.I74fs*2c.220delADeletion - Frameshift
CYP3A5ENSG00000106258ENST00000343703p.L239fs*1c.716delTDeletion - Frameshift
CUL4BENSG00000158290ENST00000336592p.L295fs*5c.877_878insTInsertion - Frameshift
PCDH11XENSG00000102290ENST00000298274p.F763fs*11c.2281_2282delTCDeletion - Frameshift
C4orf22ENSG00000197826ENST00000508675p.R167fs*17c.499_500insAInsertion - Frameshift
UNC5AENSG00000113763ENST00000261961p.G594fs*3c.1776delGDeletion - Frameshift
JARID2ENSG00000008083ENST00000541660p.A358fs*25c.1072_1073insGInsertion - Frameshift
SLC17A4ENSG00000146039ENST00000397076p.Y79fs*100c.230delTDeletion - Frameshift
ATAT1ENSG00000137343ENST00000329992p.G91fs*26c.267delADeletion - Frameshift
LUC7L3ENSG00000108848ENST00000544170p.R203fs*112c.602_605delAAGADeletion - Frameshift
TCF4ENSG00000196628ENST00000544241p.S413fs*3c.1237_1238insTInsertion - Frameshift
ZNF407ENSG00000215421ENST00000577538p.S54fs*7c.153_154insGInsertion - Frameshift
FZR1ENSG00000105325ENST00000395095p.G375fs*14c.1119delGDeletion - Frameshift
ARHGAP35ENSG00000160007ENST00000404338p.R972fs*40c.2914_2915insCInsertion - Frameshift
NLRP9ENSG00000185792ENST00000590200p.S7fs*9c.19delTDeletion - Frameshift
ASXL1ENSG00000171456ENST00000306058p.P932fs*8c.2792delCDeletion - Frameshift
NR4A2ENSG00000153234ENST00000539077p.Q120fs*3c.358_359insCInsertion - Frameshift
ENST00000367531p.F125fs*17c.373_374delTTDeletion - Frameshift
NFASCENSG00000163531ENST00000367172p.N163fs*14c.487delADeletion - Frameshift
NFASCENSG00000163531ENST00000367171p.N163fs*14c.487delADeletion - Frameshift
SPRTNENSG00000010072ENST00000366644p.I108fs*28c.317_318insAInsertion - Frameshift
SIPA1L2ENSG00000116991ENST00000308942p.C128fs*194c.381delCDeletion - Frameshift
PTPRFENSG00000142949ENST00000422171p.N418fs*71c.1251_1252insAInsertion - Frameshift
FLYWCH1ENSG00000059122ENST00000399667p.?c.1250-2_1661-4del3404Unknown
PPP3CBENSG00000107758ENST00000394822p.P34fs*5c.101delCDeletion - Frameshift
DNAJB13ENSG00000187726ENST00000543947p.K132delKc.389_391delAGADeletion - In frame
FAT3ENSG00000165323ENST00000541502p.L926fs*1c.2771delTDeletion - Frameshift
KIAA1731ENSG00000166004ENST00000411936p.S1683fs*2c.5045_5046insCInsertion - Frameshift
FLT1ENSG00000102755ENST00000543394p.K176fs*2c.528delADeletion - Frameshift
WDR47ENSG00000085433ENST00000400794p.R81fs*7c.241delADeletion - Frameshift
OGG1ENSG00000114026ENST00000302003p.F45Lc.135C>ASubstitution - Missense
TTLL3ENSG00000214021ENST00000426895p.L343Lc.1029G>ASubstitution - coding silent
PROM1ENSG00000007062ENST00000543373p.R290Wc.868C>TSubstitution - Missense
NELFAENSG00000185049ENST00000382882p.?c.416-5G>AUnknown
MACF1ENSG00000127603ENST00000361689p.R5133*c.15397C>TSubstitution - Nonsense
ENST00000380640p.I5Ic.15C>TSubstitution - coding silent
FAN1ENSG00000198690ENST00000362065p.R246Rc.736C>ASubstitution - coding silent
PLEKHS1ENSG00000148735ENST00000369312p.G259*c.775G>TSubstitution - Nonsense
ACTR1AENSG00000138107ENST00000369905p.N16Nc.48C>TSubstitution - coding silent
UVRAGENSG00000198382ENST00000356136p.H69fs*2c.200_204delCACTTDeletion - Frameshift
FAM196AENSG00000188916ENST00000522781p.P329Pc.987G>ASubstitution - coding silent
BTBD6ENSG00000184887ENST00000392554p.N220Nc.660C>TSubstitution - coding silent
NLRP14ENSG00000158077ENST00000299481p.?c.2975+6T>CUnknown
KMT2DENSG00000167548ENST00000301067p.R1344Wc.4030C>TSubstitution - Missense
PLEKHA5ENSG00000052126ENST00000299275p.T1074Pc.3220A>CSubstitution - Missense
NM_017449p.T58Tc.174G>ASubstitution - coding silent
DNAJB13ENSG00000187726ENST00000339764p.D57Dc.171C>TSubstitution - coding silent
TMEM79ENSG00000163472ENST00000295694p.R195Hc.584G>ASubstitution - Missense
OR8B3ENSG00000196661ENST00000354597p.I150Vc.448A>GSubstitution - Missense
PTPRJENSG00000149177ENST00000418331p.D873Nc.2617G>ASubstitution - Missense
KIRRELENSG00000183853ENST00000392272p.D414Ac.1241A>CSubstitution - Missense
ENST00000224764p.W253*c.758G>ASubstitution - Nonsense
SART3ENSG00000075856ENST00000228284p.S806*c.2417C>ASubstitution - Nonsense
SLC12A6ENSG00000140199ENST00000558589p.R856Cc.2566C>TSubstitution - Missense
SLC12A6ENSG00000140199ENST00000290209p.R814Cc.2440C>TSubstitution - Missense
ZBTB7CENSG00000184828ENST00000332053p.E135fs*87c.403delGDeletion - Frameshift
GAS7ENSG00000007237ENST00000580865p.?c.1delAUnknown
SLC17A4ENSG00000146039ENST00000377905p.Y309fs*72c.920delTDeletion - Frameshift
AOC1ENSG00000002726ENST00000360937p.P741fs*>11c.2218delCDeletion - Frameshift
TPTE2ENSG00000132958ENST00000400230p.S40Rc.120T>ASubstitution - Missense
ITIH5ENSG00000123243ENST00000256861p.R424*c.1270C>TSubstitution - Nonsense
PHF21AENSG00000135365ENST00000323180p.P606fs*>29c.1817delCDeletion - Frameshift
CAMSAP1ENSG00000130559ENST00000389532p.V388Mc.1162G>ASubstitution - Missense
SGK1ENSG00000118515ENST00000237305p.K367delKc.1100_1102delAGADeletion - In frame
KANSL1LENSG00000144445ENST00000281772p.N986fs*>2c.2957delADeletion - Frameshift
TACR2ENSG00000075073ENST00000373306p.R103Cc.307C>TSubstitution - Missense
TOP3AENSG00000177302ENST00000321105p.R917Cc.2749C>TSubstitution - Missense
KDM6AENSG00000147050ENST00000382899p.N613Nc.1839C>TSubstitution - coding silent
KIF4AENSG00000090889ENST00000374388p.L874Lc.2620C>TSubstitution - coding silent
CSTF2ENSG00000101811ENST00000415585p.A454Vc.1361C>TSubstitution - Missense
WWC3ENSG00000047644ENST00000380861p.R383Qc.1148G>ASubstitution - Missense
FHL1ENSG00000022267ENST00000370683p.?c.23-4G>AUnknown
TRPM6ENSG00000119121ENST00000449912p.E1403Kc.4207G>ASubstitution - Missense
CBWD1ENSG00000172785ENST00000314367p.?c.323-1G>CUnknown
CNTLNENSG00000044459ENST00000262360p.?c.3114+9A>GUnknown
ENST00000379921p.R48Wc.142C>TSubstitution - Missense
FRMPD1ENSG00000070601ENST00000541302p.V381Ac.1142T>CSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.D549Dc.1647C>TSubstitution - coding silent
KCNT1ENSG00000107147ENST00000263604p.H354Hc.1062C>TSubstitution - coding silent
CAMSAP1ENSG00000130559ENST00000409386p.V399Mc.1195G>ASubstitution - Missense
ENST00000373851p.L376Pc.1127T>CSubstitution - Missense
DENND1AENSG00000119522ENST00000373620p.?c.868-8A>GUnknown
SETXENSG00000107290ENST00000372169p.R2569*c.7705C>TSubstitution - Nonsense
ZFHX4ENSG00000091656ENST00000050961p.Q1393Qc.4179G>ASubstitution - coding silent
ENSG00000182319ENST00000330777p.A16Vc.47C>TSubstitution - Missense
ALG2ENSG00000119523ENST00000319033p.L191Sc.572T>CSubstitution - Missense
TEX10ENSG00000136891ENST00000535814p.R181Cc.541C>TSubstitution - Missense
ZFP37ENSG00000136866ENST00000553380p.K567Kc.1701A>GSubstitution - coding silent
MTUS1ENSG00000129422ENST00000381862p.T448Mc.1343C>TSubstitution - Missense
MTUS1ENSG00000129422ENST00000381862p.A218Tc.652G>ASubstitution - Missense
BMP1ENSG00000168487ENST00000397814p.R484Hc.1451G>ASubstitution - Missense
C8orf22ENSG00000168333ENST00000303202p.R18Qc.53G>ASubstitution - Missense
EYA1ENSG00000104313ENST00000388740p.D338Dc.1014C>TSubstitution - coding silent
DMTF1ENSG00000135164ENST00000394702p.R175Cc.523C>TSubstitution - Missense
PLECENSG00000178209ENST00000354589p.H2859Hc.8577C>TSubstitution - coding silent
VPS41ENSG00000006715ENST00000310301p.?c.2405-6C>TUnknown
EIF2AK1ENSG00000086232ENST00000536084p.P430Lc.1289C>TSubstitution - Missense
ABCF2ENSG00000033050ENST00000287844p.H337Hc.1011C>TSubstitution - coding silent
OGDHENSG00000105953ENST00000543843p.R307Cc.919C>TSubstitution - Missense
GRAMD1AENSG00000089351ENST00000317991p.R498Hc.1493G>ASubstitution - Missense
PCDHGA5ENSG00000253485ENST00000518069p.A499Ac.1497G>ASubstitution - coding silent
TBX18ENSG00000112837ENST00000369663p.Q583Qc.1749G>ASubstitution - coding silent
FAM134CENSG00000141699ENST00000309428p.P380Lc.1139C>TSubstitution - Missense
TRPM6ENSG00000119121ENST00000451710p.E1408Kc.4222G>ASubstitution - Missense
COL15A1ENSG00000204291ENST00000375001p.G1002fs*15c.2999delADeletion - Frameshift
HAS2ENSG00000170961ENST00000303924p.P283Tc.847C>ASubstitution - Missense
SLC22A4ENSG00000197208ENST00000200652p.F507Sc.1520T>CSubstitution - Missense
TFAP2AENSG00000137203ENST00000319516p.N421Nc.1263C>TSubstitution - coding silent
TBC1D9ENSG00000109436ENST00000442267p.S997Sc.2991C>TSubstitution - coding silent
FAM104BENSG00000182518ENST00000332132p.?c.254+6T>CUnknown
ENST00000397179p.P109Pc.327G>ASubstitution - coding silent
IFNA7ENSG00000214042ENST00000239347p.G184fs*>7c.549_550insAInsertion - Frameshift
TMEM248ENSG00000106609ENST00000341567p.P306Pc.918C>TSubstitution - coding silent
GPR4ENSG00000177464ENST00000323040p.P347Pc.1041C>ASubstitution - coding silent
DNAH11ENSG00000105877ENST00000328843p.A2316Tc.6946G>ASubstitution - Missense
SUN1ENSG00000164828ENST00000389574p.?c.1102-9A>GUnknown
MBTPS2ENSG00000012174ENST00000379484p.I300Ic.900C>TSubstitution - coding silent
CNGB1ENSG00000070729ENST00000251102p.V118Ic.352G>ASubstitution - Missense
ARHGEF26ENSG00000114790ENST00000356448p.F672fs*37c.2012delTDeletion - Frameshift
NDST3ENSG00000164100ENST00000296499p.G503Gc.1509A>GSubstitution - coding silent
PEG3ENSG00000198300ENST00000326441p.C540Cc.1620T>CSubstitution - coding silent
TFE3ENSG00000068323ENST00000315869p.G482fs*44c.1445delGDeletion - Frameshift
SAFB2ENSG00000130254ENST00000252542p.Y946fs*>9c.2826_2827insCInsertion - Frameshift
PARD6AENSG00000102981ENST00000219255p.R159Wc.475C>TSubstitution - Missense
CENPTENSG00000102901ENST00000219172p.P442fs*19c.1325delCDeletion - Frameshift
ENST00000358133p.P274fs*4c.821delCDeletion - Frameshift
ENST00000356127p.A28369Tc.85105G>ASubstitution - Missense
ETV1ENSG00000006468ENST00000430479p.P138Ac.412C>GSubstitution - Missense
IFRD2ENSG00000214706ENST00000336089p.R496Cc.1486C>TSubstitution - Missense
PLECENSG00000178209ENST00000354958p.L2707Lc.8121G>ASubstitution - coding silent
HTTENSG00000197386ENST00000355072p.L693fs*44c.2078_2079insTInsertion - Frameshift
B9D1ENSG00000108641ENST00000268841p.?c.405-2A>GUnknown
TNPO3ENSG00000064419ENST00000265388p.Y848fs*25c.2541delCDeletion - Frameshift
ERC2ENSG00000187672ENST00000288221p.?c.2848-8G>AUnknown
ERC2ENSG00000187672ENST00000288221p.?c.2848-8G>AUnknown
CA2ENSG00000104267ENST00000285379p.N61Sc.182A>GSubstitution - Missense
INTS9ENSG00000104299ENST00000521022p.I132Ic.396C>ASubstitution - coding silent
LSM14BENSG00000149657ENST00000279068p.T30Ac.88A>GSubstitution - Missense
MUM1L1ENSG00000157502ENST00000337685p.P130fs*26c.385delCDeletion - Frameshift
KIAA0513ENSG00000135709ENST00000258180p.E406Ec.1218G>ASubstitution - coding silent
OR1M1ENSG00000170929ENST00000429566p.C169Yc.506G>ASubstitution - Missense
ADAMTS18ENSG00000140873ENST00000282849p.S776Rc.2326A>CSubstitution - Missense
SPSB1ENSG00000171621ENST00000328089p.A122Tc.364G>ASubstitution - Missense
RPL4ENSG00000174444ENST00000307961p.R268Cc.802C>TSubstitution - Missense
GNPNAT1ENSG00000100522ENST00000216410p.G117Ec.350G>ASubstitution - Missense
PPP2R3CENSG00000092020ENST00000261475p.G176Gc.528A>GSubstitution - coding silent
FNTBENSG00000257365ENST00000246166p.V43Ic.127G>ASubstitution - Missense
FUT8ENSG00000033170ENST00000394585p.R403fs*12c.1201delADeletion - Frameshift
PDE4DIPENSG00000178104ENST00000313382p.Q514Rc.1541A>GSubstitution - Missense
TMEM132BENSG00000139364ENST00000299308p.T40Mc.119C>TSubstitution - Missense
NFASCENSG00000163531ENST00000403080p.N163fs*14c.487delADeletion - Frameshift
INTS3ENSG00000143624ENST00000318967p.S57Gc.169A>GSubstitution - Missense
PDXDC1ENSG00000179889ENST00000396410p.D351Vc.1052A>TSubstitution - Missense
C1orf27ENSG00000157181ENST00000287859p.I147fs*33c.432delADeletion - Frameshift
ENST00000369728p.R329Cc.985C>TSubstitution - Missense
TNNT3ENSG00000130595ENST00000381589p.?c.17+8C>TUnknown
GPR162ENSG00000250510ENST00000311268p.R162Cc.484C>TSubstitution - Missense
ERI3ENSG00000117419ENST00000372257p.V191Ac.572T>CSubstitution - Missense
LIN52ENSG00000205659ENST00000555028p.?c.295+7A>GUnknown
ADMENSG00000148926ENST00000278175p.?c.98+2T>CUnknown
DDR2ENSG00000162733ENST00000367922p.R668Hc.2003G>ASubstitution - Missense
ZFP69BENSG00000187801ENST00000361584p.A297Ac.891G>ASubstitution - coding silent
RDXENSG00000137710ENST00000343115p.R514Cc.1540C>TSubstitution - Missense
IGF2ENSG00000167244ENST00000434045p.E230fs*>8c.679_680insCInsertion - Frameshift
MALRD1ENSG00000204740ENST00000454679p.T456Mc.1367C>TSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.S2594Fc.7781C>TSubstitution - Missense
SMG1ENSG00000157106ENST00000446231p.R1644Hc.4931G>ASubstitution - Missense
TPCN1ENSG00000186815ENST00000550785p.V686Mc.2056G>ASubstitution - Missense
ENST00000450269_v68p.S183Nc.548G>ASubstitution - Missense
ARHGAP22ENSG00000128805ENST00000417912p.R186fs*34c.556delCDeletion - Frameshift
ABCC8ENSG00000006071ENST00000389817p.T1115Tc.3345G>ASubstitution - coding silent
SLC22A8ENSG00000149452ENST00000336232p.H34Hc.102C>TSubstitution - coding silent
NRXN2ENSG00000110076ENST00000377551p.R869Rc.2607G>TSubstitution - coding silent
DDX21ENSG00000165732ENST00000354185p.?c.1902+3A>GUnknown
TM7SF2ENSG00000149809ENST00000279263p.?c.305-6G>TUnknown
CPSF3LENSG00000127054ENST00000435064p.H480Hc.1440C>TSubstitution - coding silent
PRRC2CENSG00000117523ENST00000392078p.A1041Tc.3121G>ASubstitution - Missense
GTF2H1ENSG00000110768ENST00000453096p.?c.837+3A>GUnknown
DMBT1ENSG00000187908ENST00000368909p.P222Hc.665C>ASubstitution - Missense
XM_371214.3p.V1008Mc.3022G>ASubstitution - Missense
PRLHRENSG00000119973ENST00000369169p.P193Sc.577C>TSubstitution - Missense
NM_016575.1p.L84Sc.251T>CSubstitution - Missense
CHST15ENSG00000182022ENST00000421115p.G368Gc.1104C>TSubstitution - coding silent
ACIN1ENSG00000100813ENST00000338631p.R454Hc.1361G>ASubstitution - Missense
IQSEC3ENSG00000120645ENST00000538872p.S206Pc.616T>CSubstitution - Missense
ZBTB40ENSG00000184677ENST00000404138p.S877Sc.2631C>TSubstitution - coding silent
SRPRENSG00000182934ENST00000332118p.R91Qc.272G>ASubstitution - Missense
EPC1ENSG00000120616ENST00000263062p.P489Pc.1467A>GSubstitution - coding silent
ECE1ENSG00000117298ENST00000357071p.R742Cc.2224C>TSubstitution - Missense
ABCB5ENSG00000004846ENST00000404938p.H926Yc.2776C>TSubstitution - Missense
KIAA1024ENSG00000169330ENST00000305428p.S702fs*11c.2097delADeletion - Frameshift
OR6K6ENSG00000180433ENST00000368144p.F312fs*8c.931delTDeletion - Frameshift
ZCCHC14ENSG00000140948ENST00000268616p.N110fs*18c.329delADeletion - Frameshift
TMEM128ENSG00000132406ENST00000254742p.S119Sc.357G>ASubstitution - coding silent
DIP2CENSG00000151240ENST00000280886p.R1433Hc.4298G>ASubstitution - Missense
STPG1ENSG00000001460ENST00000003583p.P285Pc.855G>ASubstitution - coding silent
PTPN5ENSG00000110786ENST00000358540p.A116Tc.346G>ASubstitution - Missense
KCND3ENSG00000171385ENST00000369697p.A232Ac.696G>ASubstitution - coding silent
PLEKHG2ENSG00000090924ENST00000409794p.S1197Lc.3590C>TSubstitution - Missense
NUB1ENSG00000013374ENST00000568733p.V428Mc.1282G>ASubstitution - Missense
NUDT16ENSG00000198585ENST00000521288p.A85Tc.253G>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000357570p.C843Yc.2528G>ASubstitution - Missense
PTPRKENSG00000152894ENST00000368227p.P70Pc.210C>TSubstitution - coding silent
ZNF30ENSG00000168661ENST00000426813p.K519fs*16c.1552delADeletion - Frameshift
ENST00000317419p.F147fs*4c.437delTDeletion - Frameshift
LSM14BENSG00000149657ENST00000253001p.T30Ac.88A>GSubstitution - Missense
ENST00000434489p.Q235Qc.705G>ASubstitution - coding silent
MROH7ENSG00000184313ENST00000339553p.D975Dc.2925C>TSubstitution - coding silent
NFASCENSG00000163531ENST00000367172p.?c.3340+8G>AUnknown
PDXDC1ENSG00000179889ENST00000455313p.D328Vc.983A>TSubstitution - Missense
PIK3CDENSG00000171608ENST00000536656p.N804Nc.2412C>TSubstitution - coding silent
AFAP1L2ENSG00000169129ENST00000545353p.P547Sc.1639C>TSubstitution - Missense
KCNMA1ENSG00000156113ENST00000354353p.R868Cc.2602C>TSubstitution - Missense
TRIM49BENSG00000182053ENST00000332682p.A12Tc.34G>ASubstitution - Missense
OR52N4ENSG00000181074ENST00000317254p.V116Lc.346G>TSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.Y990Yc.2970C>TSubstitution - coding silent
ACAP2ENSG00000114331ENST00000326793p.K528fs*12c.1583delADeletion - Frameshift
USP20ENSG00000136878ENST00000315480p.R440Hc.1319G>ASubstitution - Missense
ZNF572ENSG00000180938ENST00000319286p.S198Nc.593G>ASubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.N1951Nc.5853C>TSubstitution - coding silent
HECW1ENSG00000002746ENST00000395891p.T80Mc.239C>TSubstitution - Missense
GIMAP5ENSG00000196329ENST00000358647p.A27Tc.79G>ASubstitution - Missense
ENST00000289630p.D414Nc.1240G>ASubstitution - Missense
EGR1ENSG00000120738ENST00000239938p.Y338Yc.1014C>TSubstitution - coding silent
FAT2ENSG00000086570ENST00000261800p.G3247Gc.9741C>TSubstitution - coding silent
GALNTL5ENSG00000106648ENST00000392800p.R419*c.1255C>TSubstitution - Nonsense
NM_006495.2p.S180Sc.540T>CSubstitution - coding silent
CYB5R4ENSG00000065615ENST00000369681p.I217Mc.651A>GSubstitution - Missense
AFAP1L1ENSG00000157510ENST00000296721p.A668Ac.2004C>ASubstitution - coding silent
CSF1RENSG00000182578ENST00000286301p.A273Ac.819C>TSubstitution - coding silent
SLC7A14ENSG00000013293ENST00000231706p.?c.1115+8C>TUnknown
MATKENSG00000007264ENST00000310132p.E447fs*11c.1338delCDeletion - Frameshift
CATSPER3ENSG00000152705ENST00000282611p.S354Cc.1061C>GSubstitution - Missense
PRRC1ENSG00000164244ENST00000296666p.A181Ac.543A>TSubstitution - coding silent
TNRC6BENSG00000100354ENST00000301923p.S430Fc.1289C>TSubstitution - Missense
PREPENSG00000085377ENST00000369110p.A177Tc.529G>ASubstitution - Missense
ATAD2ENSG00000156802ENST00000287394p.R524Cc.1570C>TSubstitution - Missense
MOB3AENSG00000172081ENST00000357066p.R17Cc.49C>TSubstitution - Missense
PPARDENSG00000112033ENST00000360694p.S50Lc.149C>TSubstitution - Missense
ZKSCAN7ENSG00000196345ENST00000273320p.G300fs*23c.895delGDeletion - Frameshift
SETD2ENSG00000181555ENST00000409792p.Q1287Qc.3861G>ASubstitution - coding silent
NLGN3ENSG00000196338ENST00000374051p.R682Hc.2045G>ASubstitution - Missense
XM_379909.2p.N327delNc.979_981delAATDeletion - In frame
PPP4CENSG00000149923ENST00000279387p.T93Tc.279G>ASubstitution - coding silent
PLCD1ENSG00000187091ENST00000334661p.L342Fc.1024C>TSubstitution - Missense
CAPN15ENSG00000103326ENST00000219611p.S1060Gc.3178A>GSubstitution - Missense
ARHGEF26ENSG00000114790ENST00000356448p.R279Cc.835C>TSubstitution - Missense
P2RY13ENSG00000181631ENST00000325602p.N228fs*38c.677_678insAInsertion - Frameshift
NLRP5ENSG00000171487ENST00000390649p.?c.2787-4G>AUnknown
CHL1ENSG00000134121ENST00000256509p.E600Dc.1800G>TSubstitution - Missense
CCDC109BENSG00000005059ENST00000394650p.Q286Hc.858G>TSubstitution - Missense
CATSPERDENSG00000174898ENST00000381624p.I518Tc.1553T>CSubstitution - Missense
GSTCDENSG00000138780ENST00000515279p.T536Ic.1607C>TSubstitution - Missense
ENST00000356127p.A30763Vc.92288C>TSubstitution - Missense
ACTR1BENSG00000115073ENST00000289228p.T236Mc.707C>TSubstitution - Missense
MBD1ENSG00000141644ENST00000382948p.R30Cc.88C>TSubstitution - Missense
RIOK3ENSG00000101782ENST00000339486p.K102fs*68c.299delADeletion - Frameshift
SU_SgK223p.A918Tc.2752G>ASubstitution - Missense
MCM3APENSG00000160294ENST00000397708p.F209Vc.625T>GSubstitution - Missense
NM_003319p.T10754Tc.32262T>CSubstitution - coding silent
WDR27ENSG00000184465ENST00000333572p.E161Kc.481G>ASubstitution - Missense
CAMKVENSG00000164076ENST00000477224p.H50Hc.150C>TSubstitution - coding silent
SLC13A4ENSG00000164707ENST00000354042p.G574Gc.1722G>ASubstitution - coding silent
PLECENSG00000178209ENST00000436759p.L2756Lc.8268G>ASubstitution - coding silent
PSD3ENSG00000156011ENST00000286485p.Y87Hc.259T>CSubstitution - Missense
COL6A1ENSG00000142156ENST00000361866p.D331Dc.993C>TSubstitution - coding silent
RUFY3ENSG00000018189ENST00000226328p.A437Vc.1310C>TSubstitution - Missense
TBX2ENSG00000121068ENST00000240328p.E308Kc.922G>ASubstitution - Missense
ENST00000411702p.Q3065*c.9193C>TSubstitution - Nonsense
RBM28ENSG00000106344ENST00000223073p.E224*c.670G>TSubstitution - Nonsense
REEP4ENSG00000168476ENST00000306306p.R245Wc.733C>TSubstitution - Missense
GSSENSG00000100983ENST00000216951p.A352Ac.1056C>TSubstitution - coding silent
TMEM189-UBE2V1ENSG00000124208ENST00000341698p.N136Sc.407A>GSubstitution - Missense
BPIFB4ENSG00000186191ENST00000375483p.C436Cc.1308C>TSubstitution - coding silent
PPP1R1CENSG00000150722ENST00000452904p.?c.180+4A>CUnknown
INSRENSG00000171105ENST00000302850p.D716Dc.2148C>TSubstitution - coding silent
PKD1L2ENSG00000166473ENST00000527937p.L226Pc.677T>CSubstitution - Missense
C1QTNF9BENSG00000205863ENST00000382140p.C13Yc.38G>ASubstitution - Missense
TMEM201ENSG00000188807ENST00000340381p.S611fs*>56c.1830_1831delCTDeletion - Frameshift
NPAS3ENSG00000151322ENST00000357798p.G849Gc.2547C>TSubstitution - coding silent
VPS18ENSG00000104142ENST00000220509p.V585Mc.1753G>ASubstitution - Missense
FYBENSG00000082074ENST00000351578p.P325fs*44c.972delGDeletion - Frameshift
CACNA1CENSG00000151067ENST00000399634p.R1656Hc.4967G>ASubstitution - Missense
IGSF21ENSG00000117154ENST00000251296p.R453Wc.1357C>TSubstitution - Missense
PAX7ENSG00000009709ENST00000375375p.A251Ac.753G>ASubstitution - coding silent
CAPS2ENSG00000180881ENST00000409445p.R354Qc.1061G>ASubstitution - Missense
NNMTENSG00000166741ENST00000299964p.V152Ic.454G>ASubstitution - Missense
MRGPRX1ENSG00000170255ENST00000302797p.A69Ac.207C>TSubstitution - coding silent
TEKT5ENSG00000153060ENST00000283025p.C178Yc.533G>ASubstitution - Missense
NAV2ENSG00000166833ENST00000360655p.M346Tc.1037T>CSubstitution - Missense
CCKBRENSG00000110148ENST00000525462p.T167Tc.501G>ASubstitution - coding silent
JMJD1CENSG00000171988ENST00000399262p.V1952Vc.5856A>GSubstitution - coding silent
KLC2ENSG00000174996ENST00000394067p.R461Hc.1382G>ASubstitution - Missense
PLA2G4EENSG00000188089ENST00000413860p.A39fs*15c.111_112insGInsertion - Frameshift
MAPKBP1ENSG00000137802ENST00000457542p.R818Qc.2453G>ASubstitution - Missense
RPRD2ENSG00000163125ENST00000369068p.G1386Gc.4158A>TSubstitution - coding silent
TNNENSG00000120332ENST00000239462p.E873Kc.2617G>ASubstitution - Missense
TSSK3ENSG00000162526ENST00000373534p.A27Tc.79G>ASubstitution - Missense
NM_002301.2p.A123Tc.367G>ASubstitution - Missense
MARK3ENSG00000075413ENST00000216288p.G240Wc.718G>TSubstitution - Missense
SLC25A3ENSG00000075415ENST00000228318p.A236Tc.706G>ASubstitution - Missense
NR2C1ENSG00000120798ENST00000333003p.R150*c.448C>TSubstitution - Nonsense
GPAMENSG00000119927ENST00000348367p.V800Mc.2398G>ASubstitution - Missense
RSF1ENSG00000048649ENST00000308488p.D396Dc.1188C>TSubstitution - coding silent
TDRD9ENSG00000156414ENST00000409874p.I7Ic.21C>TSubstitution - coding silent
CDONENSG00000064309ENST00000263577p.N746Nc.2238C>TSubstitution - coding silent
NAV3ENSG00000067798ENST00000397909p.T556Ac.1666A>GSubstitution - Missense
LYSTENSG00000143669ENST00000389793p.L900Pc.2699T>CSubstitution - Missense
ALDH18A1ENSG00000059573ENST00000371224p.R138Wc.412C>TSubstitution - Missense
NEK2ENSG00000117650ENST00000366999p.V302Vc.906A>GSubstitution - coding silent
ARIH1ENSG00000166233ENST00000379887p.?c.1589+5deltUnknown
NM_032900.2p.G311fs*>3c.930delADeletion - Frameshift
SGK1ENSG00000118515ENST00000528577p.K395delKc.1184_1186delAGADeletion - In frame
RRP12ENSG00000052749ENST00000370992p.P762Lc.2285C>TSubstitution - Missense
ROBO2ENSG00000185008ENST00000487694p.P1094fs*95c.3274delCDeletion - Frameshift
C2orf71ENSG00000179270ENST00000331664p.P989fs*46c.2966delCDeletion - Frameshift
INSRRENSG00000027644ENST00000368195p.E232Kc.694G>ASubstitution - Missense
LRRIQ3ENSG00000162620ENST00000395089p.I291Tc.872T>CSubstitution - Missense
TMEM194AENSG00000166881ENST00000300128p.Q248*c.742C>TSubstitution - Nonsense
ARHGAP25ENSG00000163219ENST00000409220p.A65Vc.194C>TSubstitution - Missense
ING1ENSG00000153487ENST00000375774p.R245Hc.734G>ASubstitution - Missense
PTPN5ENSG00000110786ENST00000358540p.A116Tc.346G>ASubstitution - Missense
NM_022835.1p.S1155Lc.3464C>TSubstitution - Missense
MAGEE2ENSG00000186675ENST00000373359p.Q45fs*27c.133delCDeletion - Frameshift
JAKMIP2ENSG00000176049ENST00000507386p.L656Pc.1967T>CSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.G1861Sc.5581G>ASubstitution - Missense
ECE1ENSG00000117298ENST00000264205p.S98Sc.294C>TSubstitution - coding silent
MFSD12ENSG00000161091ENST00000355415p.?c.1194+8T>CUnknown
C3orf67ENSG00000163689ENST00000482387p.T586Ac.1756A>GSubstitution - Missense
OR4C46ENSG00000185926ENST00000328188p.M21Ic.63G>ASubstitution - Missense
OR4A5ENSG00000221840ENST00000319760p.T304Ac.910A>GSubstitution - Missense
ENST00000340134_v70p.V162Ic.484G>ASubstitution - Missense
TNNT3ENSG00000130595ENST00000381579p.?c.17+8C>TUnknown
UBE2L6ENSG00000156587ENST00000287156p.R23Qc.68G>ASubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.G1107Sc.3319G>ASubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.Y2482Cc.7445A>GSubstitution - Missense
DAB2IPENSG00000136848ENST00000309989p.E110Gc.329A>GSubstitution - Missense
LONRF1ENSG00000154359ENST00000398246p.E334delEc.1001_1003delAAGDeletion - In frame
BCORL1ENSG00000085185ENST00000303743p.P1755fs*20c.5258delCDeletion - Frameshift
IL17RDENSG00000144730ENST00000427856p.T291Tc.873G>ASubstitution - coding silent
KIAA1211ENSG00000109265ENST00000264229p.V119Ic.355G>ASubstitution - Missense
RIMS4ENSG00000101098ENST00000372851p.A229Ac.687C>TSubstitution - coding silent
OR10H2ENSG00000171942ENST00000305899p.L130fs*7c.384delCDeletion - Frameshift
ATAT1ENSG00000137343ENST00000330083p.G79fs*26c.231delADeletion - Frameshift
NM_022835.1p.E327Vc.980A>TSubstitution - Missense
HIPK4ENSG00000160396ENST00000291823p.W572*c.1716G>ASubstitution - Nonsense
DPP6ENSG00000130226ENST00000377770p.H674Hc.2022C>TSubstitution - coding silent
GALNTL5ENSG00000106648ENST00000392800p.E205fs*26c.608_609delAGDeletion - Frameshift
BRD8ENSG00000112983ENST00000230901p.S268fs*8c.801delCDeletion - Frameshift
TANGO6ENSG00000103047ENST00000261778p.?c.1230+4A>GUnknown
FZD6ENSG00000164930ENST00000522566p.A646Vc.1937C>TSubstitution - Missense
ENST00000316490p.C4251Cc.12753C>TSubstitution - coding silent
PCDHGA5ENSG00000253485ENST00000518069p.S547Lc.1640C>TSubstitution - Missense
PTPRKENSG00000152894ENST00000368213p.P70Pc.210C>TSubstitution - coding silent
ZUFSPENSG00000153975ENST00000368576p.L368Ic.1102C>ASubstitution - Missense
ARRDC1ENSG00000197070ENST00000371421p.A212Tc.634G>ASubstitution - Missense
ARENSG00000169083ENST00000374690p.G624Wc.1870G>TSubstitution - Missense
BTBD9ENSG00000183826ENST00000314100p.C316Yc.947G>ASubstitution - Missense
KIAA0930ENSG00000100364ENST00000336156p.V179Ic.535G>ASubstitution - Missense
COL6A6ENSG00000206384ENST00000358511p.E1255Vc.3764A>TSubstitution - Missense
COL6A6ENSG00000206384ENST00000358511p.T1769Ac.5305A>GSubstitution - Missense
ARHGAP25ENSG00000163219ENST00000544262p.A46Vc.137C>TSubstitution - Missense
RFC2ENSG00000049541ENST00000055077p.P258Sc.772C>TSubstitution - Missense
ARHGEF4ENSG00000136002ENST00000326016p.L421Lc.1261C>TSubstitution - coding silent
FLNAENSG00000196924ENST00000369850p.G592Dc.1775G>ASubstitution - Missense
CHPFENSG00000123989ENST00000243776p.R664Sc.1990C>ASubstitution - Missense
GLI2ENSG00000074047ENST00000361492p.S650Sc.1950C>TSubstitution - coding silent
CCDC88AENSG00000115355ENST00000263630p.S250Lc.749C>TSubstitution - Missense
FLT4ENSG00000037280ENST00000393347p.R589Cc.1765C>TSubstitution - Missense
C4orf29ENSG00000164074ENST00000398965p.T233Mc.698C>TSubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.H1490Nc.4468C>ASubstitution - Missense
ZNF638ENSG00000075292ENST00000264447p.C454Rc.1360T>CSubstitution - Missense
CDH3ENSG00000062038ENST00000429102p.T276fs*21c.827delCDeletion - Frameshift
CASKENSG00000147044ENST00000378166p.G528Gc.1584T>CSubstitution - coding silent
CCDC157ENSG00000187860ENST00000338306p.R234Sc.700C>ASubstitution - Missense
ZNF160ENSG00000170949ENST00000429604p.P732fs*5c.2193_2194insAInsertion - Frameshift
MUC4ENSG00000145113ENST00000463781p.P2448fs*556c.7343delCDeletion - Frameshift
ZNF577ENSG00000161551ENST00000301399p.P424Sc.1270C>TSubstitution - Missense
IDH3BENSG00000101365ENST00000380843p.E62*c.184G>TSubstitution - Nonsense
SLC39A10ENSG00000196950ENST00000359634p.F68fs*1c.200_201delTTDeletion - Frameshift
TTNENSG00000155657ENST00000359218p.T10879Tc.32637T>CSubstitution - coding silent
ZDHHC8ENSG00000099904ENST00000405930p.T459fs*177c.1369delCDeletion - Frameshift
TTNENSG00000155657ENST00000342992p.A30765Vc.92294C>TSubstitution - Missense
ZNF655ENSG00000197343ENST00000424881p.S509Nc.1526G>ASubstitution - Missense
ZNF655ENSG00000197343ENST00000394163p.S474Nc.1421G>ASubstitution - Missense
ATP2A3ENSG00000074370ENST00000352011p.Y497Nc.1489T>ASubstitution - Missense
ETV1ENSG00000006468ENST00000403527p.P98Ac.292C>GSubstitution - Missense
ABHD14AENSG00000248487ENST00000273596p.L178Mc.532C>ASubstitution - Missense
ABCA7ENSG00000064687ENST00000263094p.P1396Lc.4187C>TSubstitution - Missense
C20orf24ENSG00000101084ENST00000342422p.I71Vc.211A>GSubstitution - Missense
PPP1R3DENSG00000132825ENST00000370996p.Y259Hc.775T>CSubstitution - Missense
ZNF800ENSG00000048405ENST00000393312p.R247Cc.739C>TSubstitution - Missense
TLN1ENSG00000137076ENST00000314888p.?c.6048-3C>TUnknown
NM_012216.2p.I492Tc.1475T>CSubstitution - Missense
ENST00000300671p.C2326Cc.6978C>TSubstitution - coding silent
PIKFYVEENSG00000115020ENST00000264380p.E829fs*1c.2478_2479insTInsertion - Frameshift
CSPP1ENSG00000104218ENST00000262210p.G249Gc.747C>TSubstitution - coding silent
ENST00000331986p.R5352Cc.16054C>TSubstitution - Missense
IL13RA1ENSG00000131724ENST00000371637p.R27Rc.81C>TSubstitution - coding silent
CDRT15ENSG00000223510ENST00000420162p.L52Mc.154C>ASubstitution - Missense
FAM120AENSG00000048828ENST00000277165p.D1046Dc.3138C>TSubstitution - coding silent
KCNE1LENSG00000176076ENST00000372101p.V88Ic.262G>ASubstitution - Missense
OR1M1ENSG00000170929ENST00000429566p.L130Lc.390G>ASubstitution - coding silent
SMARCAL1ENSG00000138375ENST00000357276p.A195Pc.583G>CSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.R3450Cc.10348C>TSubstitution - Missense
STMN1ENSG00000117632ENST00000374291p.V133Ac.398T>CSubstitution - Missense
CATSPER4ENSG00000188782ENST00000456354p.I163Ic.489C>TSubstitution - coding silent
KIAA1731ENSG00000166004ENST00000325212p.S1683fs*2c.5045_5046insCInsertion - Frameshift
MYO1EENSG00000157483ENST00000288235p.R627Cc.1879C>TSubstitution - Missense
NFASCENSG00000163531ENST00000339876p.N163fs*14c.487delADeletion - Frameshift
DSTYKENSG00000133059ENST00000367162p.Q920Hc.2760G>TSubstitution - Missense
MRPL37ENSG00000116221ENST00000398219p.R245Wc.732C>TSubstitution - Missense
ANKRD26ENSG00000107890ENST00000376087p.Y1478Cc.4433A>GSubstitution - Missense
CUBNENSG00000107611ENST00000377833p.R3618Qc.10853G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.L424Sc.1271T>CSubstitution - Missense
ATG2AENSG00000110046ENST00000377264p.T457Ic.1370C>TSubstitution - Missense
ASCC1ENSG00000138303ENST00000545550p.R139*c.415C>TSubstitution - Nonsense
DDX21ENSG00000165732ENST00000354185p.C537Rc.1609T>CSubstitution - Missense
GORABENSG00000120370ENST00000367763p.R97fs*2c.287_288delAGDeletion - Frameshift
NR2C1ENSG00000120798ENST00000330677p.R150*c.448C>TSubstitution - Nonsense
BAG5ENSG00000166170ENST00000337322p.N366fs*23c.1090_1091insAInsertion - Frameshift
TMBIM6ENSG00000139644ENST00000423828p.T184Tc.552C>ASubstitution - coding silent
TENM4ENSG00000149256ENST00000278550p.Y2085*c.6255T>ASubstitution - Nonsense
LIPMENSG00000173239ENST00000404743p.C419Cc.1257T>CSubstitution - coding silent
SU_OBSCN.1p.V2248Mc.6742G>ASubstitution - Missense
HELBENSG00000127311ENST00000247815p.F638fs*13c.1910delTDeletion - Frameshift
LDB3ENSG00000122367ENST00000429277p.G557Sc.1669G>ASubstitution - Missense
SLITRK6ENSG00000184564ENST00000400286p.C48Sc.143G>CSubstitution - Missense
KIF1BENSG00000054523ENST00000377093p.N232Yc.694A>TSubstitution - Missense
TEX11ENSG00000120498ENST00000374333p.S8fs*31c.22delTDeletion - Frameshift
SLC18A2ENSG00000165646ENST00000298472p.V141Ic.421G>ASubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.A1763Ac.5289G>ASubstitution - coding silent
ROBO2ENSG00000185008ENST00000461745p.P1078fs*95c.3226delCDeletion - Frameshift
FAM208AENSG00000163946ENST00000431842p.F166fs*21c.498delTDeletion - Frameshift
FAM208AENSG00000163946ENST00000355628p.F562fs*21c.1686delTDeletion - Frameshift
ING1ENSG00000153487ENST00000338450p.R58Hc.173G>ASubstitution - Missense
CHL1ENSG00000134121ENST00000256509p.R486Wc.1456C>TSubstitution - Missense
CNTN1ENSG00000018236ENST00000551295p.R977Hc.2930G>ASubstitution - Missense
CBWD1ENSG00000172785ENST00000377447p.?c.431-1G>CUnknown
TALDO1ENSG00000177156ENST00000319006p.R239Hc.716G>ASubstitution - Missense
ITPR1ENSG00000150995ENST00000302640p.R2429Cc.7285C>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.Y1160Hc.3478T>CSubstitution - Missense
FBXW7ENSG00000109670ENST00000263981p.R385Hc.1154G>ASubstitution - Missense
ATP2B2ENSG00000157087ENST00000383800p.Y391Yc.1173C>TSubstitution - coding silent
SLC12A9ENSG00000146828ENST00000540482p.M485Vc.1453A>GSubstitution - Missense
TAF8ENSG00000137413ENST00000456846p.D291Nc.871G>ASubstitution - Missense
TRPA1ENSG00000104321ENST00000262209p.A685Sc.2053G>TSubstitution - Missense
CACNA1BENSG00000148408ENST00000277549p.R1421Wc.4261C>TSubstitution - Missense
C20orf24ENSG00000101084ENST00000373852p.I71Vc.211A>GSubstitution - Missense
KIAA1407ENSG00000163617ENST00000545063p.E410Kc.1228G>ASubstitution - Missense
DNAH6ENSG00000115423ENST00000398278p.S462Sc.1386G>ASubstitution - coding silent
SLC8A1ENSG00000183023ENST00000406785p.C186Rc.556T>CSubstitution - Missense
SLC8A1ENSG00000183023ENST00000542024p.C186Rc.556T>CSubstitution - Missense
ARHGAP25ENSG00000163219ENST00000497079p.Q58*c.172C>TSubstitution - Nonsense
LPIN1ENSG00000134324ENST00000449576p.L822Mc.2464C>ASubstitution - Missense
MAPKBP1ENSG00000137802ENST00000456763p.R824Qc.2471G>ASubstitution - Missense
ITGA6ENSG00000091409ENST00000264106p.Q1118fs*10c.3351_3352insAInsertion - Frameshift
SGCDENSG00000170624ENST00000447401p.R31Qc.92G>ASubstitution - Missense
LDB3ENSG00000122367ENST00000458213p.G442Sc.1324G>ASubstitution - Missense
AKR1C1ENSG00000187134ENST00000380859p.Q192*c.574C>TSubstitution - Nonsense
IFITM10ENSG00000244242ENST00000340134p.V64Ic.190G>ASubstitution - Missense
SLC27A4ENSG00000167114ENST00000300456p.Q352Qc.1056G>ASubstitution - coding silent
CEACAM19ENSG00000186567ENST00000358777p.R111Cc.331C>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.R702Wc.2104C>TSubstitution - Missense
ACTR3BENSG00000133627ENST00000256001p.?c.101-8T>GUnknown
FLOT1ENSG00000137312ENST00000418160p.S52fs*6c.154delTDeletion - Frameshift
CTTNBP2ENSG00000077063ENST00000160373p.L781Lc.2343G>ASubstitution - coding silent
BAG6ENSG00000204463ENST00000375976p.S433Nc.1298G>ASubstitution - Missense
PAF1ENSG00000006712ENST00000221265p.E111delEc.331_333delGAGDeletion - In frame
ATP2B3ENSG00000067842ENST00000349466p.P1145Pc.3435C>TSubstitution - coding silent
LARP1ENSG00000155506ENST00000336314p.D865Dc.2595C>TSubstitution - coding silent
GEMIN5ENSG00000082516ENST00000285873p.T111Tc.333G>ASubstitution - coding silent
TLE1ENSG00000196781ENST00000376499p.R649Wc.1945C>TSubstitution - Missense
WDR62ENSG00000075702ENST00000270301p.E1034delEc.3099_3101delAGADeletion - In frame
ALDH8A1ENSG00000118514ENST00000265605p.?c.1012-10A>GUnknown
NM_016340.2p.R588Hc.1763G>ASubstitution - Missense
ACLYENSG00000131473ENST00000352035p.P817Pc.2451G>ASubstitution - coding silent
RALGDSENSG00000160271ENST00000372050p.P554Lc.1661C>TSubstitution - Missense
ENST00000326605p.T208Tc.624C>ASubstitution - coding silent
AKAP2ENSG00000241978ENST00000374525p.A319Ac.957C>TSubstitution - coding silent
PLXNB1ENSG00000164050ENST00000296440p.R1469Hc.4406G>ASubstitution - Missense
ENST00000217537p.C340Cc.1020C>TSubstitution - coding silent
RAB11FIP1ENSG00000156675ENST00000330843p.G1011fs*29c.3032delGDeletion - Frameshift
NLRP4ENSG00000160505ENST00000301295p.K142Rc.425A>GSubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.R2545Wc.7633C>TSubstitution - Missense
OSMENSG00000099985ENST00000215781p.A172fs*57c.514delGDeletion - Frameshift
ZNF347ENSG00000197937ENST00000334197p.T284Ac.850A>GSubstitution - Missense
TBX1ENSG00000184058ENST00000329705p.G203Gc.609C>TSubstitution - coding silent
PLCL1ENSG00000115896ENST00000428675p.G689Rc.2065G>ASubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.A1078Ac.3234G>ASubstitution - coding silent
GAS8ENSG00000141013ENST00000268699p.D198Dc.594C>TSubstitution - coding silent
STMN2ENSG00000104435ENST00000220876p.M130Ic.390G>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.R24962Hc.74885G>ASubstitution - Missense
BTN3A3ENSG00000111801ENST00000244519p.E406Ec.1218G>ASubstitution - coding silent
NM_004260.1p.A1161Vc.3482C>TSubstitution - Missense
RIOK3ENSG00000101782ENST00000339486p.R315Hc.944G>ASubstitution - Missense
SNRNP200ENSG00000144028ENST00000323853p.R1483Wc.4447C>TSubstitution - Missense
REEP1ENSG00000068615ENST00000165698p.H182Hc.546C>TSubstitution - coding silent
SEPT11ENSG00000138758ENST00000264893p.V92Ic.274G>ASubstitution - Missense
DDX42ENSG00000198231ENST00000578681p.S758Gc.2272A>GSubstitution - Missense
ZNF441ENSG00000197044ENST00000357901p.Y598Hc.1792T>CSubstitution - Missense
KEAP1ENSG00000079999ENST00000393623p.Q46Rc.137A>GSubstitution - Missense
HRH4ENSG00000134489ENST00000256906p.S170fs*15c.502delTDeletion - Frameshift
FLNCENSG00000128591ENST00000325888p.G2094Rc.6280G>ASubstitution - Missense
CNTNAP3BENSG00000154529ENST00000377564p.?c.742+3delaUnknown
GBA2ENSG00000070610ENST00000378094p.R314Hc.941G>ASubstitution - Missense
WWP1ENSG00000123124ENST00000517970p.?c.2499+8C>TUnknown
IL17RDENSG00000144730ENST00000320057p.T171Tc.513G>ASubstitution - coding silent
DNAH12ENSG00000174844ENST00000351747p.?c.3387+1G>AUnknown
LILRA4ENSG00000239961ENST00000291759p.H408Lc.1223A>TSubstitution - Missense
SLC23A2ENSG00000089057ENST00000338244p.C327Cc.981C>TSubstitution - coding silent
CDS2ENSG00000101290ENST00000460006p.S41Sc.123C>TSubstitution - coding silent
UNKENSG00000132478ENST00000293218p.H262Yc.784C>TSubstitution - Missense
GRAPENSG00000154016ENST00000284154p.?c.468+9G>AUnknown
H2BFMENSG00000101812ENST00000243297p.R150Rc.450C>TSubstitution - coding silent
ITGB4ENSG00000132470ENST00000339591p.T776Tc.2328G>ASubstitution - coding silent
UNC80ENSG00000144406ENST00000439458p.K965Ec.2893A>GSubstitution - Missense
SSTR4ENSG00000132671ENST00000255008p.A357Tc.1069G>ASubstitution - Missense
SOX17ENSG00000164736ENST00000297316p.Q350fs*14c.1044_1045delCADeletion - Frameshift
LYNENSG00000254087ENST00000519728p.P79Pc.237G>ASubstitution - coding silent
SACSENSG00000151835ENST00000382298p.E3053Ec.9159G>ASubstitution - coding silent
RALGAPA2ENSG00000188559ENST00000202677p.G167fs*15c.500delGDeletion - Frameshift
DHRS7ENSG00000100612ENST00000216500p.N215fs*1c.635_636insTInsertion - Frameshift
C15orf41ENSG00000186073ENST00000437989p.G262Cc.784G>TSubstitution - Missense
DYX1C1ENSG00000256061ENST00000380679p.R152Wc.454C>TSubstitution - Missense
XM_046751.7p.T854Mc.2561C>TSubstitution - Missense
ASUNENSG00000064102ENST00000261191p.R675Hc.2024G>ASubstitution - Missense
METTL20ENSG00000139160ENST00000357721p.S124Sc.372T>CSubstitution - coding silent
ARHGEF10LENSG00000074964ENST00000361221p.S411Gc.1231A>GSubstitution - Missense
TMEM135ENSG00000166575ENST00000305494p.M166Tc.497T>CSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.M3532Tc.10595T>CSubstitution - Missense
PIAS3ENSG00000131788ENST00000393045p.R111Cc.331C>TSubstitution - Missense
BMP8AENSG00000183682ENST00000331593p.L182fs*27c.541delTDeletion - Frameshift
CACNA1HENSG00000196557ENST00000358590p.G784Sc.2350G>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.R2279*c.6835C>TSubstitution - Nonsense
MUC6ENSG00000184956ENST00000421673p.R1568Kc.4703G>ASubstitution - Missense
DSCAML1ENSG00000177103ENST00000321322p.A1864Vc.5591C>TSubstitution - Missense
NRXN2ENSG00000110076ENST00000301894p.V181Mc.541G>ASubstitution - Missense
RPRD2ENSG00000163125ENST00000369068p.G1386Gc.4158A>TSubstitution - coding silent
POGZENSG00000143442ENST00000271715p.P732fs*14c.2195delCDeletion - Frameshift
POGZENSG00000143442ENST00000491586p.K369Kc.1107G>ASubstitution - coding silent
PTPRFENSG00000142949ENST00000359947p.N1070fs*71c.3207_3208insAInsertion - Frameshift
UTP20ENSG00000120800ENST00000261637p.L2169Lc.6507C>TSubstitution - coding silent
GLT8D2ENSG00000120820ENST00000360814p.R95*c.283C>TSubstitution - Nonsense
SLC7A1ENSG00000139514ENST00000380752p.F167Fc.501C>TSubstitution - coding silent
SMAD9ENSG00000120693ENST00000350148p.P340Tc.1018C>ASubstitution - Missense
ADRA1AENSG00000120907ENST00000380586p.P362Pc.1086G>ASubstitution - coding silent
C9orf131ENSG00000174038ENST00000421362p.G168Dc.503G>ASubstitution - Missense
KLHL13ENSG00000003096ENST00000539496p.T170Tc.510G>ASubstitution - coding silent
ENST00000257665_v70p.S570Ic.1709G>TSubstitution - Missense
ZRANB3ENSG00000121988ENST00000536680p.?c.2347-4C>TUnknown
CYB5R2ENSG00000166394ENST00000524790p.T145fs*8c.433delADeletion - Frameshift
ENST00000392554_v70p.N295Nc.885C>TSubstitution - coding silent
C15orf52ENSG00000188549ENST00000397536p.K29Kc.87G>ASubstitution - coding silent
NR4A2ENSG00000153234ENST00000539077p.D279Nc.835G>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000404771p.R802Cc.2404C>TSubstitution - Missense
PTPRJENSG00000149177ENST00000440289p.A404Tc.1210G>ASubstitution - Missense
DNAJB13ENSG00000187726ENST00000543947p.Q130Hc.390G>CSubstitution - Missense
DOLKENSG00000175283ENST00000372586p.H276Rc.827A>GSubstitution - Missense
FASTKD1ENSG00000138399ENST00000453153p.R684Cc.2050C>TSubstitution - Missense
DENND1AENSG00000119522ENST00000373618p.?c.772-8A>GUnknown
ENST00000316490p.S531Fc.1592C>TSubstitution - Missense
CASKIN1ENSG00000167971ENST00000343516p.?c.390+9C>TUnknown
ZBTB22ENSG00000236104ENST00000418724p.L569Pc.1706T>CSubstitution - Missense
TENM2ENSG00000145934ENST00000519204p.H2197Rc.6590A>GSubstitution - Missense
RAB24ENSG00000169228ENST00000303251p.?c.547+7G>AUnknown
INTS1ENSG00000164880ENST00000389470p.A304Tc.910G>ASubstitution - Missense
EGFRENSG00000146648ENST00000275493p.C950Cc.2850C>TSubstitution - coding silent
TRIM15ENSG00000204610ENST00000376694p.A42Vc.125C>TSubstitution - Missense
PUS7ENSG00000091127ENST00000356362p.?c.1238-3C>TUnknown
THAP5ENSG00000177683ENST00000415914p.K116Kc.348G>ASubstitution - coding silent
AFF2ENSG00000155966ENST00000370460p.P285Sc.853C>TSubstitution - Missense
PCDHA6ENSG00000081842ENST00000529310p.D414Nc.1240G>ASubstitution - Missense
ENST00000532298_v68p.R192Lc.575G>TSubstitution - Missense
HAS3ENSG00000103044ENST00000306560p.A88Tc.262G>ASubstitution - Missense
HAS3ENSG00000103044ENST00000219322p.A146Ac.438C>TSubstitution - coding silent
PCDHGA12ENSG00000253159ENST00000252085p.A476Tc.1426G>ASubstitution - Missense
BACH2ENSG00000112182ENST00000257749p.D299Dc.897C>TSubstitution - coding silent
KIAA1009ENSG00000135315ENST00000403245p.R1370Rc.4110C>TSubstitution - coding silent
TRPV3ENSG00000167723ENST00000576742p.?c.466+7G>AUnknown
SHPKENSG00000197417ENST00000225519p.W202*c.605G>ASubstitution - Nonsense
BZRAP1ENSG00000005379ENST00000343736p.L1399Lc.4197A>GSubstitution - coding silent
VAV2ENSG00000160293ENST00000406606p.L448Lc.1342C>TSubstitution - coding silent
NEDD9ENSG00000111859ENST00000379446p.Q76Rc.227A>GSubstitution - Missense
EP300ENSG00000100393ENST00000263253p.T1724Tc.5172C>ASubstitution - coding silent
TRPS1ENSG00000104447ENST00000395715p.A869fs*45c.2605delGDeletion - Frameshift
COL15A1ENSG00000204291ENST00000375001p.?c.2079+3_2079+13delaaaaaaaaaaaUnknown
PRR16ENSG00000184838ENST00000407149p.E93Dc.279G>TSubstitution - Missense
MEGF10ENSG00000145794ENST00000274473p.R272Cc.814C>TSubstitution - Missense
GATAD2AENSG00000167491ENST00000360315p.P444Hc.1331C>ASubstitution - Missense
HMGN5ENSG00000198157ENST00000358130p.S49fs*3c.145delADeletion - Frameshift
EXD3ENSG00000187609ENST00000340951p.A253Vc.758C>TSubstitution - Missense
NM_001010888.1p.C303fs*24c.900_901insAInsertion - Frameshift
FYCO1ENSG00000163820ENST00000296137p.A441Vc.1322C>TSubstitution - Missense
DMPKENSG00000104936ENST00000343373p.G136Vc.407G>TSubstitution - Missense
KIAA1407ENSG00000163617ENST00000295878p.Q471Hc.1413G>TSubstitution - Missense
RPN1ENSG00000163902ENST00000296255p.L401Mc.1201C>ASubstitution - Missense
RASIP1ENSG00000105538ENST00000222145p.P746Pc.2238T>CSubstitution - coding silent
CCDC9ENSG00000105321ENST00000221922p.?c.210+1G>AUnknown
ZNF645ENSG00000175809ENST00000323684p.S308Lc.923C>TSubstitution - Missense
PLXNA3ENSG00000130827ENST00000369682p.M1756Tc.5267T>CSubstitution - Missense
GPR17ENSG00000144230ENST00000393018p.I130Ic.390C>TSubstitution - coding silent
PRKAG3ENSG00000115592ENST00000233944p.L327Mc.979C>ASubstitution - Missense
TPRA1ENSG00000163870ENST00000355552p.F268Sc.803T>CSubstitution - Missense
IQCJ-SCHIP1ENSG00000250588ENST00000337808p.?c.996+1G>AUnknown
MYOZ2ENSG00000172399ENST00000307128p.P236Lc.707C>TSubstitution - Missense
PLEKHG1ENSG00000120278ENST00000358517p.T351Ac.1051A>GSubstitution - Missense
NM_145686p.P562Sc.1684C>TSubstitution - Missense
TRAK1ENSG00000182606ENST00000396175p.R546fs*39c.1632delCDeletion - Frameshift
DNAH6ENSG00000115423ENST00000237449p.P147delPc.434_436delCTCDeletion - In frame
DRC1ENSG00000157856ENST00000288710p.?c.765+6G>AUnknown
HIST1H4DENSG00000188987ENST00000340756p.A77Tc.229G>ASubstitution - Missense
TRRAPENSG00000196367ENST00000359863p.A1014Tc.3040G>ASubstitution - Missense
CYP3A5ENSG00000106258ENST00000222982p.L249fs*1c.746delTDeletion - Frameshift
ZNF696ENSG00000185730ENST00000330143p.C270Cc.810C>TSubstitution - coding silent
RAXENSG00000134438ENST00000334889p.R99*c.295C>TSubstitution - Nonsense
CADM2ENSG00000175161ENST00000383699p.T298Mc.893C>TSubstitution - Missense
XM_496642.1p.R1274Rc.3822C>ASubstitution - coding silent
SMARCA4ENSG00000127616ENST00000358026p.Q1569*c.4705C>TSubstitution - Nonsense
CPNE2ENSG00000140848ENST00000290776p.A475Vc.1424C>TSubstitution - Missense
SLC6A2ENSG00000103546ENST00000219833p.I130fs*86c.388_389insAInsertion - Frameshift
TMEM2ENSG00000135048ENST00000377044p.I522Mc.1566A>GSubstitution - Missense
DPH1ENSG00000108963ENST00000263083p.L170Hc.509T>ASubstitution - Missense
ENSG00000105520ENST00000591608p.A185Vc.554C>TSubstitution - Missense
NRF1ENSG00000106459ENST00000223190p.T443Tc.1329T>CSubstitution - coding silent
GLIS3ENSG00000107249ENST00000324333p.P328Lc.983C>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.R1074Hc.3221G>ASubstitution - Missense
BMP1ENSG00000168487ENST00000306385p.R484Hc.1451G>ASubstitution - Missense
ENST00000380781p.G198Gc.594C>TSubstitution - coding silent
RUVBL2ENSG00000183207ENST00000221413p.R284Hc.851G>ASubstitution - Missense
GDF5ENSG00000125965ENST00000374369p.L53fs*34c.157delCDeletion - Frameshift
CHD7ENSG00000171316ENST00000423902p.P2797Sc.8389C>TSubstitution - Missense
TNRC6CENSG00000078687ENST00000301624p.T930Mc.2789C>TSubstitution - Missense
COL4A6ENSG00000197565ENST00000394872p.E77*c.229G>TSubstitution - Nonsense
FYBENSG00000082074ENST00000512982p.E695Ec.2085A>GSubstitution - coding silent
CACNA1CENSG00000151067ENST00000347598p.R1704Hc.5111G>ASubstitution - Missense
NPAS3ENSG00000151322ENST00000346562p.G830Gc.2490C>TSubstitution - coding silent
VPS13CENSG00000129003ENST00000261517p.L29Pc.86T>CSubstitution - Missense
DENND5AENSG00000184014ENST00000328194p.L832Pc.2495T>CSubstitution - Missense
SOX13ENSG00000143842ENST00000367204p.Q444*c.1330C>TSubstitution - Nonsense
MASTLENSG00000120539ENST00000375946p.M110Vc.328A>GSubstitution - Missense
WDR77ENSG00000116455ENST00000235090p.A97Vc.290C>TSubstitution - Missense
SIDT2ENSG00000149577ENST00000324225p.R424Cc.1270C>TSubstitution - Missense
BAIAP3ENSG00000007516ENST00000324385p.?c.1915-6G>AUnknown
CCDC73ENSG00000186714ENST00000335185p.R1066fs*13c.3192delGDeletion - Frameshift
PPCSENSG00000127125ENST00000372561p.A222Tc.664G>ASubstitution - Missense
RGMAENSG00000182175ENST00000329082p.T128Mc.383C>TSubstitution - Missense
NRXN2ENSG00000110076ENST00000377551p.V1227Mc.3679G>ASubstitution - Missense
DDX50ENSG00000107625ENST00000373585p.R714Qc.2141G>ASubstitution - Missense
SYVN1ENSG00000162298ENST00000377190p.R606Rc.1818C>TSubstitution - coding silent
ZNF362ENSG00000160094ENST00000373428p.T138Ac.412A>GSubstitution - Missense
LRRN4CLENSG00000177363ENST00000317449p.V101Ac.302T>CSubstitution - Missense
CDK17ENSG00000059758ENST00000261211p.A219Vc.656C>TSubstitution - Missense
ADRBK1ENSG00000173020ENST00000308595p.G214Gc.642C>TSubstitution - coding silent
KCNIP2ENSG00000120049ENST00000348850p.?c.214-3C>TUnknown
RASGRF1ENSG00000058335ENST00000419573p.P791Pc.2373C>ASubstitution - coding silent
PRMT5ENSG00000100462ENST00000397441p.N515Dc.1543A>GSubstitution - Missense
BRF1ENSG00000185024ENST00000440513p.S504Fc.1511C>TSubstitution - Missense
NXPH4ENSG00000182379ENST00000349394p.P202Lc.605C>TSubstitution - Missense
ABCB10ENSG00000135776ENST00000344517p.Q733fs*>5c.2197_2200delCAAADeletion - Frameshift
LUZP1ENSG00000169641ENST00000374623p.R476Hc.1427G>ASubstitution - Missense
OR10G7ENSG00000182634ENST00000330487p.A23Tc.67G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.V2248Mc.6742G>ASubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.?c.11992+9C>TUnknown
TRPC3ENSG00000138741ENST00000264811p.R308Hc.923G>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000286627p.R807Cc.2419C>TSubstitution - Missense
FICDENSG00000198855ENST00000552695p.R250Hc.749G>ASubstitution - Missense
EML2ENSG00000125746ENST00000245925p.A292Tc.874G>ASubstitution - Missense
MRI1ENSG00000037757ENST00000040663p.H330fs*24c.983delCDeletion - Frameshift
ATP2B2ENSG00000157087ENST00000360273p.Y436Yc.1308C>TSubstitution - coding silent
BTBD11ENSG00000151136ENST00000280758p.R421Hc.1262G>ASubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R273Cc.817C>TSubstitution - Missense
ECE1ENSG00000117298ENST00000374893p.S101Sc.303C>TSubstitution - coding silent
MTMR4ENSG00000108389ENST00000323456p.K21fs*20c.60_61insCInsertion - Frameshift
EVCENSG00000072840ENST00000264956p.R190Cc.568C>TSubstitution - Missense
ZFP64ENSG00000020256ENST00000361387p.P329Pc.987G>ASubstitution - coding silent
CMSS1ENSG00000184220ENST00000421999p.A196Ac.588G>ASubstitution - coding silent
SCGB2A2ENSG00000110484ENST00000227918p.A54Tc.160G>ASubstitution - Missense
FAM120AENSG00000048828ENST00000333936p.D1074Dc.3222C>TSubstitution - coding silent
RUFY3ENSG00000018189ENST00000417478p.A497Vc.1490C>TSubstitution - Missense
RB1ENSG00000139687ENST00000267163p.?c.1961-1G>AUnknown
IDH3BENSG00000101365ENST00000380851p.E62*c.184G>TSubstitution - Nonsense
KIF1AENSG00000130294ENST00000498729p.T1309Tc.3927C>TSubstitution - coding silent
PROCENSG00000115718ENST00000453608p.R411Hc.1232G>ASubstitution - Missense
KCTD15ENSG00000153885ENST00000430256p.L47fs*36c.135delCDeletion - Frameshift
GIT2ENSG00000139436ENST00000343646p.V141Mc.421G>ASubstitution - Missense
ARHGEF2ENSG00000116584ENST00000361247p.R131Wc.391C>TSubstitution - Missense
VWA5B1ENSG00000158816ENST00000375083p.P411Pc.1233T>CSubstitution - coding silent
POU5F1BENSG00000212993ENST00000465342p.P119fs*4c.351delCDeletion - Frameshift
RBM18ENSG00000119446ENST00000417201p.N90Dc.268A>GSubstitution - Missense
DENND1AENSG00000119522ENST00000373624p.?c.868-8A>GUnknown
MYO10ENSG00000145555ENST00000513610p.S1226fs*25c.3674_3675insGInsertion - Frameshift
RPS15ENSG00000115268ENST00000233609p.I133Ic.399C>TSubstitution - coding silent
CD97ENSG00000123146ENST00000242786p.S110Sc.330C>TSubstitution - coding silent
ENST00000446948p.P63Hc.188C>ASubstitution - Missense
DHX35ENSG00000101452ENST00000252011p.R697Gc.2089A>GSubstitution - Missense
SH3GL1ENSG00000141985ENST00000269886p.S287Pc.859T>CSubstitution - Missense
ZMYND8ENSG00000101040ENST00000536340p.C251Yc.752G>ASubstitution - Missense
ENST00000348077p.P464Lc.1391C>TSubstitution - Missense
BAG6ENSG00000204463ENST00000404765p.S433Nc.1298G>ASubstitution - Missense
URGCPENSG00000106608ENST00000223341p.A217Vc.650C>TSubstitution - Missense
SDK1ENSG00000146555ENST00000404826p.I1100Ic.3300C>TSubstitution - coding silent
SNAP29ENSG00000099940ENST00000215730p.N9Dc.25A>GSubstitution - Missense
DDR1ENSG00000204580ENST00000418800p.R169fs*6c.501delCDeletion - Frameshift
CTTNBP2ENSG00000077063ENST00000160373p.R42Wc.124C>TSubstitution - Missense
TESENSG00000135269ENST00000358204p.V410Gc.1229T>GSubstitution - Missense
PHIPENSG00000146247ENST00000275034p.L86Pc.257T>CSubstitution - Missense
NOS3ENSG00000164867ENST00000297494p.S772Gc.2314A>GSubstitution - Missense
PCDHA11ENSG00000249158ENST00000398640p.R479Qc.1436G>ASubstitution - Missense
TLE1ENSG00000196781ENST00000376463p.G141Gc.423C>TSubstitution - coding silent
NFKBIDENSG00000167604ENST00000396901p.A57Ac.171G>ASubstitution - coding silent
LSRENSG00000105699ENST00000361790p.?c.775+5delgUnknown
FAM160A1ENSG00000164142ENST00000435205p.I39Vc.115A>GSubstitution - Missense
AIM1ENSG00000112297ENST00000369066p.G1482Gc.4446A>GSubstitution - coding silent
PGAM4ENSG00000226784ENST00000458128p.R10Wc.28C>TSubstitution - Missense
UPF1ENSG00000005007ENST00000262803p.T794Mc.2381C>TSubstitution - Missense
LTFENSG00000012223ENST00000231751p.V48Vc.144G>ASubstitution - coding silent
SU_SPEGp.D1084Nc.3250G>ASubstitution - Missense
TSPYL6ENSG00000178021ENST00000317802p.V395Vc.1185A>GSubstitution - coding silent
PLOD3ENSG00000106397ENST00000223127p.A431Tc.1291G>ASubstitution - Missense
CLIP2ENSG00000106665ENST00000223398p.P149Sc.445C>TSubstitution - Missense
ENST00000319509_v65p.S334Pc.1000T>CSubstitution - Missense
CXorf58ENSG00000165182ENST00000379211p.?c.940-1G>TUnknown
PLCD1ENSG00000187091ENST00000463876p.N760Nc.2280C>TSubstitution - coding silent
SLC38A7ENSG00000103042ENST00000219320p.A445Ac.1335C>TSubstitution - coding silent
HPS3ENSG00000163755ENST00000296051p.R404Cc.1210C>TSubstitution - Missense
SETD6ENSG00000103037ENST00000310682p.?c.600-8A>GUnknown
VEPH1ENSG00000197415ENST00000494677p.V125fs*26c.366_367insCInsertion - Frameshift
DUS3LENSG00000141994ENST00000309061p.V338Ic.1012G>ASubstitution - Missense
TRIM28ENSG00000130726ENST00000253024p.V505Ic.1513G>ASubstitution - Missense
MEMO1ENSG00000162959ENST00000295065p.S269Lc.806C>TSubstitution - Missense
ARAFENSG00000078061ENST00000377045p.T105Ic.314C>TSubstitution - Missense
ZNF649ENSG00000198093ENST00000354957p.I174Vc.520A>GSubstitution - Missense
KCNB2ENSG00000182674ENST00000523207p.S762fs*46c.2279delCDeletion - Frameshift
TTNENSG00000155657ENST00000359218p.A21999Tc.65995G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.L18432fs*24c.55295delTDeletion - Frameshift
TBX1ENSG00000184058ENST00000359500p.G203Gc.609C>TSubstitution - coding silent
NM_006226.1p.G591Rc.1771G>ASubstitution - Missense
FARP2ENSG00000006607ENST00000264042p.T159Ac.475A>GSubstitution - Missense
ZNF480ENSG00000198464ENST00000468240p.S65Sc.195C>TSubstitution - coding silent
PTPRSENSG00000105426ENST00000357368p.R1829Qc.5486G>ASubstitution - Missense
ESCO1ENSG00000141446ENST00000269214p.Y822Nc.2464T>ASubstitution - Missense
TPX2ENSG00000088325ENST00000300403p.D349Gc.1046A>GSubstitution - Missense
DNMT3BENSG00000088305ENST00000328111p.A513Ac.1539G>ASubstitution - coding silent
ADAM17ENSG00000151694ENST00000310823p.E468Ec.1404G>ASubstitution - coding silent
ADAMTS3ENSG00000156140ENST00000286657p.R55Hc.164G>ASubstitution - Missense
KRT39ENSG00000196859ENST00000355612p.E362Dc.1086A>CSubstitution - Missense
SMARCA4ENSG00000127616ENST00000358026p.M527Tc.1580T>CSubstitution - Missense
DSCAMENSG00000171587ENST00000400454p.P423Pc.1269G>ASubstitution - coding silent
CSTF1ENSG00000101138ENST00000217109p.I28Ic.84C>TSubstitution - coding silent
TLN1ENSG00000137076ENST00000314888p.N1113Sc.3338A>GSubstitution - Missense
CDCA2ENSG00000184661ENST00000330560p.S806Ic.2417G>TSubstitution - Missense
MED13ENSG00000108510ENST00000397786p.C1260Rc.3778T>CSubstitution - Missense
ENST00000300671p.A1765Vc.5294C>TSubstitution - Missense
PRR12ENSG00000126464ENST00000418929p.T574Tc.1722C>TSubstitution - coding silent
MMP24ENSG00000125966ENST00000246186p.T506Mc.1517C>TSubstitution - Missense
SYCP2ENSG00000196074ENST00000357552p.R1377Qc.4130G>ASubstitution - Missense
IPPKENSG00000127080ENST00000287996p.D381Dc.1143C>TSubstitution - coding silent
PRPS2ENSG00000101911ENST00000380668p.A121Ac.363G>ASubstitution - coding silent
ITGB4ENSG00000132470ENST00000200181p.L1148Lc.3444G>ASubstitution - coding silent
ERBB4ENSG00000178568ENST00000402597p.I1216Tc.3647T>CSubstitution - Missense
NUTM1ENSG00000184507ENST00000333756p.P1088Pc.3264C>ASubstitution - coding silent
KLHL17ENSG00000187961ENST00000338591p.D358Ec.1074C>GSubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.?c.3288-1G>CUnknown
OTX2ENSG00000165588ENST00000339475p.S182Sc.546C>TSubstitution - coding silent
ATG14ENSG00000126775ENST00000247178p.T144fs*33c.430delADeletion - Frameshift
FYBENSG00000082074ENST00000351578p.P325fs*44c.972delGDeletion - Frameshift
ENST00000453814p.D64Nc.190G>ASubstitution - Missense
GNAT2ENSG00000134183ENST00000351050p.S190Fc.569C>TSubstitution - Missense
PIAS3ENSG00000131788ENST00000393045p.?c.1449-5C>TUnknown
NINJ2ENSG00000171840ENST00000305108p.S65Sc.195C>TSubstitution - coding silent
CD4ENSG00000010610ENST00000011653p.L361Lc.1083G>ASubstitution - coding silent
PADI1ENSG00000142623ENST00000375471p.S223Lc.668C>TSubstitution - Missense
SLC6A5ENSG00000165970ENST00000525748p.T622Tc.1866T>CSubstitution - coding silent
ZFYVE1ENSG00000165861ENST00000556143p.R271Rc.813G>ASubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.S3603Gc.10807A>GSubstitution - Missense
RNF10ENSG00000022840ENST00000325954p.P129Tc.385C>ASubstitution - Missense
SFMBT2ENSG00000198879ENST00000361972p.V417Vc.1251G>ASubstitution - coding silent
RUFY2ENSG00000204130ENST00000388768p.C625fs*1c.1875_1876delTGDeletion - Frameshift
CACUL1ENSG00000151893ENST00000369151p.G11fs*6c.32delGDeletion - Frameshift
AKAP3ENSG00000111254ENST00000228850p.L178Pc.533T>CSubstitution - Missense
KIF21AENSG00000139116ENST00000361961p.N135fs*9c.399_400insAInsertion - Frameshift
RNF31ENSG00000092098ENST00000324103p.R692Rc.2076C>GSubstitution - coding silent
ENST00000251757p.G772Wc.2314G>TSubstitution - Missense
PLEKHS1ENSG00000148735ENST00000369310p.G341*c.1021G>TSubstitution - Nonsense
KIF26BENSG00000162849ENST00000407071p.R1746Rc.5238C>TSubstitution - coding silent
ACADSBENSG00000196177ENST00000358776p.?c.1128+3_1128+10delaaaaaaaaUnknown
MPEG1ENSG00000197629ENST00000361050p.W464fs*25c.1390delTDeletion - Frameshift
OR5AN1ENSG00000176495ENST00000313940p.L131fs*21c.387delCDeletion - Frameshift
LRRC27ENSG00000148814ENST00000368614p.L197Lc.591C>ASubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.V971fs*6c.2906_2907insGInsertion - Frameshift
SCAMP5ENSG00000198794ENST00000425597p.A148Vc.443C>TSubstitution - Missense
KLRC2ENSG00000205809ENST00000381901p.?c.331+2T>CUnknown
ITPKBENSG00000143772ENST00000429204p.V933Vc.2799C>TSubstitution - coding silent
XM_371474.2p.T1398Mc.4193C>TSubstitution - Missense
IFNEENSG00000184995ENST00000448696p.H76Qc.228C>ASubstitution - Missense
NM_005870.3p.R102*c.304C>TSubstitution - Nonsense
WNT11ENSG00000085741ENST00000322563p.D310Nc.928G>ASubstitution - Missense
BCORL1ENSG00000085185ENST00000218147p.P1681fs*20c.5036delCDeletion - Frameshift
ZNF30ENSG00000168661ENST00000439785p.K601fs*16c.1798delADeletion - Frameshift
CELSR1ENSG00000075275ENST00000262738p.T1849fs*8c.5544delGDeletion - Frameshift
ESRP1ENSG00000104413ENST00000358397p.N512fs*2c.1528delADeletion - Frameshift
ITGB6ENSG00000115221ENST00000283249p.A143Tc.427G>ASubstitution - Missense
RIMBP2ENSG00000060709ENST00000261655p.S143Sc.429C>TSubstitution - coding silent
ACSL6ENSG00000164398ENST00000296869p.G498Gc.1494C>TSubstitution - coding silent
ABLIM2ENSG00000163995ENST00000296372p.T482Ic.1445C>TSubstitution - Missense
MSH2ENSG00000095002ENST00000233146p.S860*c.2579C>ASubstitution - Nonsense
FRAS1ENSG00000138759ENST00000264895p.T3083Mc.9248C>TSubstitution - Missense
MPP2ENSG00000108852ENST00000461854p.V469Mc.1405G>ASubstitution - Missense
STXBP5ENSG00000164506ENST00000392291p.R11Qc.32G>ASubstitution - Missense
POMT1ENSG00000130714ENST00000354713p.Y230Yc.690C>TSubstitution - coding silent
CACUL1ENSG00000151893ENST00000340214p.G11fs*6c.32delGDeletion - Frameshift
NFASCENSG00000163531ENST00000367171p.P165fs*12c.489delCDeletion - Frameshift
ZDHHC5ENSG00000156599ENST00000287169p.S415fs*24c.1240_1241delAADeletion - Frameshift
LSM14BENSG00000149657ENST00000400318p.T30Ac.88A>GSubstitution - Missense
ENST00000310397_v70p.A812Gc.2435C>GSubstitution - Missense
EXO1ENSG00000174371ENST00000366548p.N299Nc.897C>TSubstitution - coding silent
PLD5ENSG00000180287ENST00000427495p.K379Ec.1135A>GSubstitution - Missense
ECE1ENSG00000117298ENST00000264205p.R751Cc.2251C>TSubstitution - Missense
LRRC27ENSG00000148814ENST00000432555p.L70Lc.210C>ASubstitution - coding silent
C11orf31ENSG00000211450ENST00000388857p.P86Lc.257C>TSubstitution - Missense
PSMB7ENSG00000136930ENST00000441097p.V190Ac.569T>CSubstitution - Missense
HSPA1LENSG00000204390ENST00000375654p.Y373Nc.1117T>ASubstitution - Missense
DOCK2ENSG00000134516ENST00000256935p.A1538Vc.4613C>TSubstitution - Missense
OXCT1ENSG00000083720ENST00000196371p.A253Vc.758C>TSubstitution - Missense
TOX2ENSG00000124191ENST00000372999p.P413Lc.1238C>TSubstitution - Missense
USE1ENSG00000053501ENST00000263897p.Q44*c.130C>TSubstitution - Nonsense
CEACAM4ENSG00000105352ENST00000221954p.?c.424+9T>CUnknown
NM_144685p.W497*c.1491G>ASubstitution - Nonsense
ENST00000450194p.R1511Rc.4533G>ASubstitution - coding silent
ENST00000316490p.M3820Ic.11460G>ASubstitution - Missense
SLC35A1ENSG00000164414ENST00000369552p.C131Yc.392G>ASubstitution - Missense
NM_014866.1p.H971Hc.2913C>TSubstitution - coding silent
SPINK5ENSG00000133710ENST00000359874p.E418Dc.1254A>CSubstitution - Missense
HEATR6ENSG00000068097ENST00000184956p.Q693Hc.2079G>TSubstitution - Missense
ACLYENSG00000131473ENST00000352035p.T925Tc.2775C>TSubstitution - coding silent
SALL3ENSG00000256463ENST00000537592p.S1284Sc.3852C>TSubstitution - coding silent
NM_032143.1p.?c.742-4C>TUnknown
GATAD2AENSG00000167491ENST00000360315p.P587Hc.1760C>ASubstitution - Missense
ATRIPENSG00000164053ENST00000320211p.R211Qc.632G>ASubstitution - Missense
NBEAL2ENSG00000160796ENST00000450053p.R2320Qc.6959G>ASubstitution - Missense
PPP2R5DENSG00000112640ENST00000485511p.P64Pc.192G>ASubstitution - coding silent
FBXO24ENSG00000106336ENST00000427939p.S163Sc.489C>TSubstitution - coding silent
NSMCE1ENSG00000169189ENST00000361439p.L174Mc.520C>ASubstitution - Missense
DMPKENSG00000104936ENST00000291270p.R173Cc.517C>TSubstitution - Missense
AMMECR1LENSG00000144233ENST00000272647p.L183fs*1c.547delCDeletion - Frameshift
LPIN1ENSG00000134324ENST00000404113p.L238Mc.712C>ASubstitution - Missense
NAGAENSG00000198951ENST00000396398p.?c.324+8G>AUnknown
WDPCPENSG00000143951ENST00000272321p.?c.1435+5G>AUnknown
USP34ENSG00000115464ENST00000398571p.I1104fs*9c.3304_3305insGInsertion - Frameshift
TIAM2ENSG00000146426ENST00000318981p.T93Mc.278C>TSubstitution - Missense
NM_001001671.1p.V71Ac.212T>CSubstitution - Missense
SLC20A1ENSG00000144136ENST00000272542p.R260*c.778C>TSubstitution - Nonsense
NOD1ENSG00000106100ENST00000222823p.A226Tc.676G>ASubstitution - Missense
MIOSENSG00000164654ENST00000405785p.I363Ic.1089T>CSubstitution - coding silent
ZFP90ENSG00000184939ENST00000398253p.C185Cc.555T>CSubstitution - coding silent
ENST00000356731_v68p.G279Cc.835G>TSubstitution - Missense
GNB2L1ENSG00000204628ENST00000512805p.K271Nc.813G>TSubstitution - Missense
ZNF606ENSG00000166704ENST00000341164p.E351Kc.1051G>ASubstitution - Missense
HPCAL1ENSG00000115756ENST00000381765p.F64Fc.192C>TSubstitution - coding silent
GSTCDENSG00000138780ENST00000394730p.T449Ic.1346C>TSubstitution - Missense
BMP2KENSG00000138756ENST00000502871p.V586Ac.1757T>CSubstitution - Missense
IRAK2ENSG00000134070ENST00000256458p.M543Vc.1627A>GSubstitution - Missense
ENST00000332801p.A105Sc.313G>TSubstitution - Missense
NM_003319p.A24268Vc.72803C>TSubstitution - Missense
ANKMY1ENSG00000144504ENST00000361678p.V82Vc.246G>ASubstitution - coding silent
PLCD1ENSG00000187091ENST00000463876p.R630*c.1888C>TSubstitution - Nonsense
ABLIM2ENSG00000163995ENST00000447017p.G119Rc.355G>ASubstitution - Missense
IDO1ENSG00000131203ENST00000522495p.D194Yc.580G>TSubstitution - Missense
ENST00000344132p.Q198Hc.594G>TSubstitution - Missense
ZNF583ENSG00000198440ENST00000291598p.L109Lc.327T>CSubstitution - coding silent
ENST00000442499p.V63fs*2c.186_187delTGDeletion - Frameshift
TFIP11ENSG00000100109ENST00000407690p.Y162Yc.486C>TSubstitution - coding silent
DEPDC5ENSG00000100150ENST00000535622p.P751Lc.2252C>TSubstitution - Missense
KIF1AENSG00000130294ENST00000320389p.V205Mc.613G>ASubstitution - Missense
ZNF337ENSG00000130684ENST00000376436p.T425Ac.1273A>GSubstitution - Missense
ERMARDENSG00000130023ENST00000366773p.S554Pc.1660T>CSubstitution - Missense
CGGBP1ENSG00000163320ENST00000309534p.R3Qc.8G>ASubstitution - Missense
LAMA3ENSG00000053747ENST00000313654p.C1405Cc.4215C>TSubstitution - coding silent
SMARCA4ENSG00000127616ENST00000429416p.Q1248Rc.3743A>GSubstitution - Missense
ENST00000400449p.S111Sc.333C>TSubstitution - coding silent
ICAM2ENSG00000108622ENST00000449662p.A192Pc.574G>CSubstitution - Missense
SLC13A5ENSG00000141485ENST00000433363p.?c.1575+3A>GUnknown
LILRA4ENSG00000239961ENST00000291759p.H408Yc.1222C>TSubstitution - Missense
ENST00000293218_v68p.H338Yc.1012C>TSubstitution - Missense
FOXJ1ENSG00000129654ENST00000322957p.D110fs*11c.327delCDeletion - Frameshift
NXF3ENSG00000147206ENST00000395065p.?c.1delAUnknown
RTN4RL1ENSG00000185924ENST00000331238p.C135Yc.404G>ASubstitution - Missense
TEX13AENSG00000133149ENST00000413579p.S10Sc.30C>TSubstitution - coding silent
HOXB13ENSG00000159184ENST00000290295p.D145Dc.435C>TSubstitution - coding silent
NECAB2ENSG00000103154ENST00000305202p.R254Hc.761G>ASubstitution - Missense
NM_014572p.L914fs*10c.2741delTDeletion - Frameshift
NOX5ENSG00000255346ENST00000260364p.T689Tc.2067G>ASubstitution - coding silent
FCN3ENSG00000142748ENST00000270879p.C258Cc.774T>CSubstitution - coding silent
LRRIQ3ENSG00000162620ENST00000395089p.?c.868-4A>GUnknown
LPHN2ENSG00000117114ENST00000359929p.T838Tc.2514C>ASubstitution - coding silent
SP2ENSG00000167182ENST00000376741p.L284Mc.850C>ASubstitution - Missense
CCNKENSG00000090061ENST00000389879p.*581*c.1742A>GSubstitution - coding silent
ENST00000368724p.D53Nc.157G>ASubstitution - Missense
ABL2ENSG00000143322ENST00000512653p.R653Cc.1957C>TSubstitution - Missense
CD163ENSG00000177575ENST00000396620p.G676Vc.2027G>TSubstitution - Missense
HELBENSG00000127311ENST00000247815p.F1079Fc.3237C>TSubstitution - coding silent
PCDH15ENSG00000150275ENST00000414778p.L429Sc.1286T>CSubstitution - Missense
EXPH5ENSG00000110723ENST00000265843p.F627Lc.1881C>GSubstitution - Missense
TPCN1ENSG00000186815ENST00000335509p.V614Mc.1840G>ASubstitution - Missense
FBXO21ENSG00000135108ENST00000330622p.D410fs*42c.1228_1229delGADeletion - Frameshift
NM_000036.1p.E53Gc.158A>GSubstitution - Missense
DMAP1ENSG00000178028ENST00000361745p.G210Dc.629G>ASubstitution - Missense
RPS6KA4ENSG00000162302ENST00000334205p.R193Qc.578G>ASubstitution - Missense
BRCA2ENSG00000139618ENST00000544455p.A3029Tc.9085G>ASubstitution - Missense
RAD9AENSG00000172613ENST00000307980p.L163Lc.487C>TSubstitution - coding silent
EPS8ENSG00000151491ENST00000281172p.R670Qc.2009G>ASubstitution - Missense
CHST15ENSG00000182022ENST00000421115p.G26fs*27c.77delGDeletion - Frameshift
ENST00000368915p.L2141Lc.6423A>GSubstitution - coding silent
NM_172217.1p.P691Pc.2073T>GSubstitution - coding silent
P4HA3ENSG00000149380ENST00000331597p.R175Rc.525G>ASubstitution - coding silent
ACANENSG00000157766ENST00000439576p.T282Ac.844A>GSubstitution - Missense
MPEG1ENSG00000197629ENST00000361050p.A669Tc.2005G>ASubstitution - Missense
ROBO3ENSG00000154134ENST00000397801p.R133Rc.399C>TSubstitution - coding silent
PARD3ENSG00000148498ENST00000374789p.?c.1017-9C>TUnknown
CR1ENSG00000203710ENST00000400960p.S1979Pc.5935T>CSubstitution - Missense
CR1ENSG00000203710ENST00000367049p.S2429Fc.7286C>TSubstitution - Missense
RNF41ENSG00000181852ENST00000345093p.R95Wc.283C>TSubstitution - Missense
SART3ENSG00000075856ENST00000228284p.E818*c.2452G>TSubstitution - Nonsense
CUX2ENSG00000111249ENST00000261726p.S932Gc.2794A>GSubstitution - Missense
GLYR1ENSG00000140632ENST00000321919p.R381fs*20c.1140delGDeletion - Frameshift
ENST00000329916p.G20fs*2c.59delGDeletion - Frameshift
SCLT1ENSG00000151466ENST00000281142p.A424fs*6c.1269delADeletion - Frameshift
PPP3CBENSG00000107758ENST00000360663p.P34fs*5c.101delCDeletion - Frameshift
GRIN2AENSG00000183454ENST00000396573p.T531Mc.1592C>TSubstitution - Missense
COL3A1ENSG00000168542ENST00000304636p.R1034Hc.3101G>ASubstitution - Missense
DIS3ENSG00000083520ENST00000377767p.M758Tc.2273T>CSubstitution - Missense
PIBF1ENSG00000083535ENST00000326291p.V12fs*5c.26_27insAInsertion - Frameshift
WDR47ENSG00000085433ENST00000369965p.R81fs*7c.241delADeletion - Frameshift
PKD1ENSG00000008710ENST00000262304p.G2797Gc.8391C>TSubstitution - coding silent
CPEB2ENSG00000137449ENST00000259997p.C544fs*31c.1624delTDeletion - Frameshift
RASSF1ENSG00000068028ENST00000357043p.R251Rc.753C>TSubstitution - coding silent
TBCKENSG00000145348ENST00000273980p.N457fs*15c.1370delADeletion - Frameshift
CACNA1GENSG00000006283ENST00000354983p.G1477Gc.4431C>TSubstitution - coding silent
FUT6ENSG00000156413ENST00000286955p.N262Nc.786C>TSubstitution - coding silent
PLEKHG2ENSG00000090924ENST00000458508p.S1138Lc.3413C>TSubstitution - Missense
PLECENSG00000178209ENST00000356346p.L2715Lc.8145G>ASubstitution - coding silent
FKBP9ENSG00000122642ENST00000538336p.G233Rc.697G>ASubstitution - Missense
PTENENSG00000171862ENST00000371953p.R233*c.697C>TSubstitution - Nonsense
ENST00000534231p.R226Hc.677G>ASubstitution - Missense
FIZ1ENSG00000179943ENST00000221665p.R20fs*47c.57delCDeletion - Frameshift
SCN11AENSG00000168356ENST00000302328p.R225Hc.674G>ASubstitution - Missense
ARHGAP27ENSG00000159314ENST00000428638p.R856Wc.2566C>TSubstitution - Missense
CPNE9ENSG00000144550ENST00000383831p.?c.377+1G>AUnknown
ABCB6ENSG00000115657ENST00000265316p.R807Qc.2420G>ASubstitution - Missense
ENST00000373120p.P181fs*25c.542delCDeletion - Frameshift
OR8J3ENSG00000167822ENST00000301529p.V145Mc.433G>ASubstitution - Missense
ENST00000314689p.L4Lc.10C>TSubstitution - coding silent
SEMA6CENSG00000143434ENST00000368913p.?c.1714+2T>CUnknown
CACNA1EENSG00000198216ENST00000367567p.S1059Sc.3177C>TSubstitution - coding silent
SPTAN1ENSG00000197694ENST00000372739p.D1241Gc.3722A>GSubstitution - Missense
BICC1ENSG00000122870ENST00000263103p.R430Hc.1289G>ASubstitution - Missense
EIF2B5ENSG00000145191ENST00000273783p.?c.2106+4C>TUnknown
NOTCH3ENSG00000074181ENST00000263388p.N1951Nc.5853C>TSubstitution - coding silent
VWA3AENSG00000175267ENST00000389398p.R755Gc.2263A>GSubstitution - Missense
DCAF15ENSG00000132017ENST00000254337p.E538Gc.1613A>GSubstitution - Missense
SULF2ENSG00000196562ENST00000359930p.T296Mc.887C>TSubstitution - Missense
PIWIL3ENSG00000184571ENST00000332271p.A142Vc.425C>TSubstitution - Missense
PCDHB10ENSG00000120324ENST00000239446p.T689Tc.2067C>TSubstitution - coding silent
RADILENSG00000157927ENST00000399583p.A96Ac.288G>ASubstitution - coding silent
MAGENSG00000105695ENST00000361922p.V428Mc.1282G>ASubstitution - Missense
SLC23A1ENSG00000170482ENST00000353963p.N482Sc.1445A>GSubstitution - Missense
ABCF2ENSG00000033050ENST00000287844p.P153fs*10c.458delCDeletion - Frameshift
ATP2B3ENSG00000067842ENST00000370186p.V230Mc.688G>ASubstitution - Missense
PCDHB8ENSG00000120322ENST00000239444p.E545Kc.1633G>ASubstitution - Missense
SLC4A1ENSG00000004939ENST00000262418p.P419Pc.1257C>TSubstitution - coding silent
SARDHENSG00000123453ENST00000371868p.Q100Qc.300G>ASubstitution - coding silent
NCOA7ENSG00000111912ENST00000433571p.L116Lc.346C>TSubstitution - coding silent
FSTL4ENSG00000053108ENST00000265342p.L222delLc.665_667delTCCDeletion - In frame
ZC3H12BENSG00000102053ENST00000338957p.C217fs*24c.642_643insAInsertion - Frameshift
KLHL4ENSG00000102271ENST00000373114p.R513Qc.1538G>ASubstitution - Missense
TMEM143ENSG00000161558ENST00000293261p.A67Tc.199G>ASubstitution - Missense
CLASRPENSG00000104859ENST00000221455p.A173Vc.518C>TSubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.G1209Rc.3625G>ASubstitution - Missense
DCTPP1ENSG00000179958ENST00000319285p.R109Cc.325C>TSubstitution - Missense
AMOTL2ENSG00000114019ENST00000249883p.T701Ac.2101A>GSubstitution - Missense
NUDT16ENSG00000198585ENST00000359850p.A52Tc.154G>ASubstitution - Missense
NCANENSG00000130287ENST00000252575p.L799fs*28c.2390delCDeletion - Frameshift
NLGN3ENSG00000196338ENST00000358741p.R702Hc.2105G>ASubstitution - Missense
ABCB7ENSG00000131269ENST00000253577p.I65Vc.193A>GSubstitution - Missense
POM121CENSG00000135213ENST00000453279p.S328Ic.983G>TSubstitution - Missense
GUSBENSG00000169919ENST00000304895p.R577Cc.1729C>TSubstitution - Missense
IZUMO1ENSG00000182264ENST00000332955p.G213Rc.637G>ASubstitution - Missense
NM_005689.1p.R807Qc.2420G>ASubstitution - Missense
CCDC88AENSG00000115355ENST00000336838p.S250Lc.749C>TSubstitution - Missense
FAM65AENSG00000039523ENST00000379312p.S751Fc.2252C>TSubstitution - Missense
IQCJ-SCHIP1ENSG00000250588ENST00000485419p.?c.1224+1G>AUnknown
UVSSAENSG00000163945ENST00000389851p.Q637*c.1909C>TSubstitution - Nonsense
SUSD5ENSG00000173705ENST00000309558p.A358Tc.1072G>ASubstitution - Missense
ENST00000317082_v61p.R972fs*40c.2914_2915insCInsertion - Frameshift
PAX8ENSG00000125618ENST00000429538p.P409Pc.1227C>GSubstitution - coding silent
FLNAENSG00000196924ENST00000369850p.G592Dc.1775G>ASubstitution - Missense
GPR17ENSG00000144230ENST00000393018p.H88Lc.263A>TSubstitution - Missense
GLI2ENSG00000074047ENST00000361492p.T224Tc.672G>ASubstitution - coding silent
TBC1D9BENSG00000197226ENST00000355235p.S1121Sc.3363A>GSubstitution - coding silent
CDH9ENSG00000113100ENST00000231021p.D724Gc.2171A>GSubstitution - Missense
TRIM41ENSG00000146063ENST00000315073p.T222Tc.666C>TSubstitution - coding silent
KIAA0195ENSG00000177728ENST00000314256p.N1227Hc.3679A>CSubstitution - Missense
PLCD1ENSG00000187091ENST00000463876p.P432Sc.1294C>TSubstitution - Missense
SLCO4C1ENSG00000173930ENST00000310954p.Y542fs*7c.1625_1643del19Deletion - Frameshift
BIRC6ENSG00000115760ENST00000421745p.L1028Pc.3083T>CSubstitution - Missense
NM_000933.2p.G128Gc.384C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.A24393Vc.73178C>TSubstitution - Missense
ENST00000388944p.R885Hc.2654G>ASubstitution - Missense
KIF1AENSG00000130294ENST00000320389p.T1208Tc.3624C>TSubstitution - coding silent
MTHFSDENSG00000103248ENST00000381214p.V86Ic.256G>ASubstitution - Missense
ITGAMENSG00000169896ENST00000287497p.H686Lc.2057A>TSubstitution - Missense
ENST00000262719_v68p.C930Cc.2790T>CSubstitution - coding silent
MYO5BENSG00000167306ENST00000285039p.V1692Mc.5074G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.R33184Cc.99550C>TSubstitution - Missense
ATP2A3ENSG00000074370ENST00000359983p.Y497Nc.1489T>ASubstitution - Missense
WDR27ENSG00000184465ENST00000448612p.E161Kc.481G>ASubstitution - Missense
AKTIPENSG00000166971ENST00000394657p.T66Tc.198G>ASubstitution - coding silent
ROBO1ENSG00000169855ENST00000464233p.T570fs*35c.1709_1710delCADeletion - Frameshift
ROBO1ENSG00000169855ENST00000464233p.T570fs*35c.1709_1710delCADeletion - Frameshift
LDLRENSG00000130164ENST00000558518p.S198Sc.594G>ASubstitution - coding silent
MOCOSENSG00000075643ENST00000261326p.*889fs?c.2666_2667delAADeletion - Frameshift
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
TMEM2ENSG00000135048ENST00000377044p.K886Kc.2658A>GSubstitution - coding silent
OCRLENSG00000122126ENST00000371113p.P407Pc.1221G>ASubstitution - coding silent
MRPL38ENSG00000204316ENST00000309352p.I330Nc.989T>ASubstitution - Missense
FYBENSG00000082074ENST00000351578p.E649Ec.1947A>GSubstitution - coding silent
ARHGAP29ENSG00000137962ENST00000260526p.P42Lc.125C>TSubstitution - Missense
ENST00000315089p.A143Tc.427G>ASubstitution - Missense
SPG11ENSG00000104133ENST00000261866p.T652Tc.1956C>ASubstitution - coding silent
SU_LRRK1p.T1575Tc.4725G>ASubstitution - coding silent
PPFIA4ENSG00000143847ENST00000272198p.T223Mc.668C>TSubstitution - Missense
GPR158ENSG00000151025ENST00000376351p.L591Lc.1771T>CSubstitution - coding silent
ENST00000316851_v65p.T458fs*9c.1372delADeletion - Frameshift
ENST00000399147_v68p.A293Vc.878C>TSubstitution - Missense
GRIA4ENSG00000152578ENST00000393125p.N371Dc.1111A>GSubstitution - Missense
MEIOBENSG00000162039ENST00000412554p.I297Tc.890T>CSubstitution - Missense
ELL3ENSG00000128886ENST00000319359p.Y363Hc.1087T>CSubstitution - Missense
ZMPSTE24ENSG00000084073ENST00000372759p.R42Kc.125G>ASubstitution - Missense
ADAMTS15ENSG00000166106ENST00000299164p.R714Rc.2142C>TSubstitution - coding silent
ENST00000299136p.S207Cc.620C>GSubstitution - Missense
PSAPENSG00000197746ENST00000394936p.P181fs*25c.542delCDeletion - Frameshift
NALCNENSG00000102452ENST00000251127p.H758Yc.2272C>TSubstitution - Missense
COL2A1ENSG00000139219ENST00000337299p.G837Ec.2510G>ASubstitution - Missense
GLRX3ENSG00000108010ENST00000331244p.R136Cc.406C>TSubstitution - Missense
PTPRJENSG00000149177ENST00000418331p.F725Fc.2175C>TSubstitution - coding silent
FCRL1ENSG00000163534ENST00000358292p.M76Tc.227T>CSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.V2432Mc.7294G>ASubstitution - Missense
ABCC9ENSG00000069431ENST00000261201p.R660Wc.1978C>TSubstitution - Missense
NPTNENSG00000156642ENST00000345330p.?c.706+8C>AUnknown
ATP5C1ENSG00000165629ENST00000356708p.F153Sc.458T>CSubstitution - Missense
STT3AENSG00000134910ENST00000392708p.C116Sc.347G>CSubstitution - Missense
PRDM10ENSG00000170325ENST00000360871p.A987Tc.2959G>ASubstitution - Missense
GIT2ENSG00000139436ENST00000547815p.N411Sc.1232A>GSubstitution - Missense
C4BPAENSG00000123838ENST00000367070p.K537Kc.1611G>ASubstitution - coding silent
KDM2AENSG00000173120ENST00000529006p.R733Qc.2198G>ASubstitution - Missense
CANT1ENSG00000171302ENST00000392446p.K131Rc.392A>GSubstitution - Missense
ARID4AENSG00000032219ENST00000355431p.R857Wc.2569C>TSubstitution - Missense
TLR6ENSG00000174130ENST00000381950p.I64Ic.192C>TSubstitution - coding silent
RASSF1ENSG00000068028ENST00000327761p.R177Rc.531C>TSubstitution - coding silent
ADAMDEC1ENSG00000134028ENST00000256412p.N342fs*2c.1014_1015insAInsertion - Frameshift
MYO7AENSG00000137474ENST00000409709p.H133fs*13c.391delCDeletion - Frameshift
CACNA1EENSG00000198216ENST00000367573p.S1452Sc.4356C>TSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.R1614Wc.4840C>TSubstitution - Missense
FLGENSG00000143631ENST00000368799p.A1019Vc.3056C>TSubstitution - Missense
TFGENSG00000114354ENST00000490574p.A382Vc.1145C>TSubstitution - Missense
GLI1ENSG00000111087ENST00000228682p.D390Dc.1170C>TSubstitution - coding silent
RNMTENSG00000101654ENST00000383314p.T394fs*19c.1174delADeletion - Frameshift
MAP3K15ENSG00000180815ENST00000338883p.V596Ac.1787T>CSubstitution - Missense
WNK2ENSG00000165238ENST00000427277p.A290Tc.868G>ASubstitution - Missense
PLECENSG00000178209ENST00000356346p.H2845Hc.8535C>TSubstitution - coding silent
POM121ENSG00000196313ENST00000434423p.A929Tc.2785G>ASubstitution - Missense
ENST00000310397_v70p.R334Hc.1001G>ASubstitution - Missense
ARHGEF4ENSG00000136002ENST00000355771p.L350Lc.1048C>TSubstitution - coding silent
DHX30ENSG00000132153ENST00000445061p.G1022Sc.3064G>ASubstitution - Missense
GAS7ENSG00000007237ENST00000583882p.?c.1delAUnknown
DNAH6ENSG00000115423ENST00000398278p.P147delPc.434_436delCTCDeletion - In frame
DNAH6ENSG00000115423ENST00000398278p.N304fs*16c.905delADeletion - Frameshift
SLIT3ENSG00000184347ENST00000404867p.Q1102fs*9c.3304_3305insCInsertion - Frameshift
ARHGAP29ENSG00000137962ENST00000370217p.P42Lc.125C>TSubstitution - Missense
ZNF646ENSG00000167395ENST00000394979p.R1358Qc.4073G>ASubstitution - Missense
CACNA1HENSG00000196557ENST00000348261p.G784Sc.2350G>ASubstitution - Missense
ENST00000356853_v70p.V27Vc.81T>CSubstitution - coding silent
VIL1ENSG00000127831ENST00000248444p.R579Qc.1736G>ASubstitution - Missense
MEMO1ENSG00000162959ENST00000379383p.S272Lc.815C>TSubstitution - Missense
ABCC10ENSG00000124574ENST00000244533p.P1232Pc.3696G>ASubstitution - coding silent
SYNGAP1ENSG00000197283ENST00000418600p.?c.3408+9A>CUnknown
DPP6ENSG00000130226ENST00000404039p.H610Hc.1830C>TSubstitution - coding silent
C4orf50ENSG00000181215ENST00000324058p.R221Hc.662G>ASubstitution - Missense
IFT52ENSG00000101052ENST00000373039p.K31fs*11c.88delADeletion - Frameshift
MEGF8ENSG00000105429ENST00000251268p.A2080Ec.6239C>ASubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.K3706Kc.11118G>ASubstitution - coding silent
BAG6ENSG00000204463ENST00000375976p.D760Dc.2280C>TSubstitution - coding silent
RYR1ENSG00000196218ENST00000359596p.R727Cc.2179C>TSubstitution - Missense
AKT2ENSG00000105221ENST00000392038p.V198Ac.593T>CSubstitution - Missense
ENST00000319379p.L4409Pc.13226T>CSubstitution - Missense
EYA4ENSG00000112319ENST00000355167p.I596Mc.1788A>GSubstitution - Missense
DOPEY1ENSG00000083097ENST00000349129p.M1488Vc.4462A>GSubstitution - Missense
SENP6ENSG00000112701ENST00000447266p.E191Ec.573A>GSubstitution - coding silent
TCOF1ENSG00000070814ENST00000504761p.L169Lc.507G>ASubstitution - coding silent
NOS3ENSG00000164867ENST00000297494p.R517*c.1549C>TSubstitution - Nonsense
TCOF1ENSG00000070814ENST00000504761p.D1451fs*>38c.4344delADeletion - Frameshift
THUMPD2ENSG00000138050ENST00000260619p.?c.989-7A>GUnknown
CACNA1GENSG00000006283ENST00000354983p.S1062Sc.3186A>GSubstitution - coding silent
RALGDSENSG00000160271ENST00000372062p.P525Lc.1574C>TSubstitution - Missense
SARDHENSG00000123453ENST00000371872p.Q672Qc.2016G>ASubstitution - coding silent
VPS13AENSG00000197969ENST00000360280p.P1877Sc.5629C>TSubstitution - Missense
VPS13AENSG00000197969ENST00000376634p.P1877Sc.5629C>TSubstitution - Missense
MFSD12ENSG00000161091ENST00000389395p.?c.1194+8T>CUnknown
CLDN11ENSG00000013297ENST00000064724p.V207Ic.619G>ASubstitution - Missense
GRAMD1AENSG00000089351ENST00000317991p.S271Lc.812C>TSubstitution - Missense
ENST00000576222_v68p.A686Ac.2058G>ASubstitution - coding silent
PCDHGA6ENSG00000253731ENST00000517434p.N484Nc.1452C>TSubstitution - coding silent
HSDL2ENSG00000119471ENST00000398805p.F92Sc.275T>CSubstitution - Missense
PPP3R2ENSG00000188386ENST00000374806p.T128Tc.384G>ASubstitution - coding silent
ENST00000340515p.I39Vc.115A>GSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.A2560Vc.7679C>TSubstitution - Missense
ZNF407ENSG00000215421ENST00000299687p.S54fs*7c.155_156insTInsertion - Frameshift
NEDD9ENSG00000111859ENST00000504387p.Q76Rc.227A>GSubstitution - Missense
ZNF197ENSG00000186448ENST00000344387p.C515*c.1545T>ASubstitution - Nonsense
XM_371474.2p.R702Cc.2104C>TSubstitution - Missense
ZNF541ENSG00000118156ENST00000391901p.I796Lc.2386A>TSubstitution - Missense
AFF1ENSG00000172493ENST00000395146p.T773Ac.2317A>GSubstitution - Missense
MGRN1ENSG00000102858ENST00000399577p.G482Gc.1446C>TSubstitution - coding silent
ZNF75AENSG00000162086ENST00000574298p.D12Dc.36T>CSubstitution - coding silent
PRKCGENSG00000126583ENST00000263431p.I446Tc.1337T>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.I821Tc.2462T>CSubstitution - Missense
NM_003319p.M9737Vc.29209A>GSubstitution - Missense
NM_003319p.?c.17087-6G>AUnknown
MBD1ENSG00000141644ENST00000457839p.R30Cc.88C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.A22066Tc.66196G>ASubstitution - Missense
NAT6ENSG00000243477ENST00000354862p.R112Hc.335G>ASubstitution - Missense
EMILIN2ENSG00000132205ENST00000254528p.G922fs*10c.2761delGDeletion - Frameshift
SMARCA4ENSG00000127616ENST00000429416p.Q1537*c.4609C>TSubstitution - Nonsense
NCAPHENSG00000121152ENST00000240423p.G660Rc.1978G>ASubstitution - Missense
PPLENSG00000118898ENST00000345988p.Q33Qc.99G>ASubstitution - coding silent
PTTG2ENSG00000250254ENST00000504686p.A110Tc.328G>ASubstitution - Missense
TRIM35ENSG00000104228ENST00000305364p.V291Ic.871G>ASubstitution - Missense
ENST00000411702p.C1986Cc.5958C>TSubstitution - coding silent
VAMP2ENSG00000220205ENST00000316509p.P10fs*37c.29delCDeletion - Frameshift
SF3A2ENSG00000104897ENST00000221494p.E249Ec.747G>ASubstitution - coding silent
CDH26ENSG00000124215ENST00000348616p.K587Kc.1761G>ASubstitution - coding silent
CSTF2ENSG00000101811ENST00000372972p.A434Vc.1301C>TSubstitution - Missense
NCOR1ENSG00000141027ENST00000268712p.R85Sc.255G>CSubstitution - Missense
INPP5KENSG00000132376ENST00000421807p.R166Wc.496C>TSubstitution - Missense
SGTAENSG00000104969ENST00000221566p.A178Vc.533C>TSubstitution - Missense
GPATCH1ENSG00000076650ENST00000170564p.R129Rc.387G>ASubstitution - coding silent
DENND1CENSG00000205744ENST00000381480p.S679Pc.2035T>CSubstitution - Missense
SLC25A43ENSG00000077713ENST00000217909p.A116Tc.346G>ASubstitution - Missense
JAK1ENSG00000162434ENST00000342505p.L431fs*22c.1282_1283insCInsertion - Frameshift
CATSPER4ENSG00000188782ENST00000456354p.?c.557+6C>TUnknown
PLD2ENSG00000129219ENST00000263088p.D554Ec.1662C>ASubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.I1274Lc.3820A>TSubstitution - Missense
NEDD4ENSG00000069869ENST00000338963p.P38Lc.113C>TSubstitution - Missense
FLGENSG00000143631ENST00000368799p.R517Hc.1550G>ASubstitution - Missense
ADARENSG00000160710ENST00000368474p.S659Gc.1975A>GSubstitution - Missense
MROH7ENSG00000184313ENST00000421030p.D975Dc.2925C>TSubstitution - coding silent
ENST00000343901_v65p.R145Wc.433C>TSubstitution - Missense
PADI3ENSG00000142619ENST00000375460p.A330Tc.988G>ASubstitution - Missense
PADI3ENSG00000142619ENST00000375460p.I430Ic.1290T>CSubstitution - coding silent
FAT3ENSG00000165323ENST00000409404p.P2701Pc.8103T>CSubstitution - coding silent
GPR133ENSG00000111452ENST00000261654p.L731Lc.2193C>TSubstitution - coding silent
MYBPHENSG00000133055ENST00000255416p.K455Nc.1365G>TSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.S3603Gc.10807A>GSubstitution - Missense
C1orf27ENSG00000157181ENST00000287859p.I147fs*33c.432delADeletion - Frameshift
NBPF14ENSG00000122497ENST00000369219p.?c.72-3T>CUnknown
AMY2BENSG00000240038ENST00000361355p.R318*c.952C>TSubstitution - Nonsense
FDX1ENSG00000137714ENST00000260270p.R149Wc.445C>TSubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.R5635*c.16903C>TSubstitution - Nonsense
AMPD1ENSG00000116748ENST00000520113p.R749Wc.2245C>TSubstitution - Missense
WDR3ENSG00000065183ENST00000349139p.A611Tc.1831G>ASubstitution - Missense
ZNF697ENSG00000143067ENST00000421812p.A347Ac.1041G>ASubstitution - coding silent
VAMP4ENSG00000117533ENST00000236192p.G16Gc.48T>CSubstitution - coding silent
TJP1ENSG00000104067ENST00000346128p.S933Lc.2798C>TSubstitution - Missense
NPAP1ENSG00000185823ENST00000329468p.R56Hc.167G>ASubstitution - Missense
SLC22A6ENSG00000197901ENST00000377871p.I216Vc.646A>GSubstitution - Missense
SLC38A4ENSG00000139209ENST00000266579p.Y387Hc.1159T>CSubstitution - Missense
SH3PXD2AENSG00000107957ENST00000355946p.A698Tc.2092G>ASubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.A3029Tc.9085G>ASubstitution - Missense
AGTENSG00000135744ENST00000366667p.G317Dc.950G>ASubstitution - Missense
ANKLE2ENSG00000176915ENST00000357997p.Q307*c.919C>TSubstitution - Nonsense
TENM4ENSG00000149256ENST00000278550p.N1427Sc.4280A>GSubstitution - Missense
CERS5ENSG00000139624ENST00000317551p.?c.304-10A>GUnknown
NAA16ENSG00000172766ENST00000379406p.V844Vc.2532C>TSubstitution - coding silent
PLA2G4EENSG00000188089ENST00000413860p.G38delGc.108_110delTGGDeletion - In frame
NKTRENSG00000114857ENST00000232978p.R859fs*9c.2567_2568insAInsertion - Frameshift
METTL17ENSG00000165792ENST00000382985p.M215Ic.645G>ASubstitution - Missense
METTL17ENSG00000165792ENST00000339374p.M215Ic.645G>ASubstitution - Missense
LRRC27ENSG00000148814ENST00000368615p.L197Lc.591C>ASubstitution - coding silent
SPRTNENSG00000010072ENST00000295050p.I212fs*28c.629_630insAInsertion - Frameshift
MYOFENSG00000138119ENST00000359263p.E1095Dc.3285A>CSubstitution - Missense
INSRRENSG00000027644ENST00000368195p.E232Kc.694G>ASubstitution - Missense
ITGA7ENSG00000135424ENST00000553804p.R546Cc.1636C>TSubstitution - Missense
HEXBENSG00000049860ENST00000261416p.*557fs?c.1670delADeletion - Frameshift
ENST00000336239p.G482fs*44c.1445delGDeletion - Frameshift
ENST00000282251_v68p.K96fs*41c.287delADeletion - Frameshift
ARID1AENSG00000117713ENST00000324856p.Q758fs*75c.2268delCDeletion - Frameshift
GRB14ENSG00000115290ENST00000263915p.P301Lc.902C>TSubstitution - Missense
BEND2ENSG00000177324ENST00000380033p.R646*c.1936C>TSubstitution - Nonsense
SLC6A7ENSG00000011083ENST00000230671p.F145Fc.435C>TSubstitution - coding silent
ZDHHC8ENSG00000099904ENST00000334554p.T459fs*177c.1369delCDeletion - Frameshift
FBXW7ENSG00000109670ENST00000281708p.R465Hc.1394G>ASubstitution - Missense
SRPK2ENSG00000135250ENST00000393651p.G479Sc.1435G>ASubstitution - Missense
UTRNENSG00000152818ENST00000367526p.S282Sc.846G>ASubstitution - coding silent
KIF1AENSG00000130294ENST00000498729p.V205Mc.613G>ASubstitution - Missense
MAP4K4ENSG00000071054ENST00000350198p.P531Sc.1591C>TSubstitution - Missense
TRIM25ENSG00000121060ENST00000316881p.A254Tc.760G>ASubstitution - Missense
ARHGAP22ENSG00000128805ENST00000417247p.R80fs*34c.238delCDeletion - Frameshift
VWA5B1ENSG00000158816ENST00000289825p.P128Pc.384T>CSubstitution - coding silent
SPTBN4ENSG00000160460ENST00000344104p.R112Cc.334C>TSubstitution - Missense
ABCC10ENSG00000124574ENST00000372530p.P1260Pc.3780G>ASubstitution - coding silent
LDB3ENSG00000122367ENST00000458213p.A169Vc.506C>TSubstitution - Missense
ENST00000326910p.A66Tc.196G>ASubstitution - Missense
ITGA7ENSG00000135424ENST00000257880p.R586Cc.1756C>TSubstitution - Missense
HLA-DQB2ENSG00000232629ENST00000411527p.V169Ac.506T>CSubstitution - Missense
NAMPTENSG00000105835ENST00000222553p.E263Gc.788A>GSubstitution - Missense
CTTNBP2ENSG00000077063ENST00000160373p.I803Ic.2409T>ASubstitution - coding silent
ATXN7L1ENSG00000146776ENST00000388807p.L111Lc.333C>TSubstitution - coding silent
ATAT1ENSG00000137343ENST00000376483p.G91fs*26c.267delADeletion - Frameshift
SDK1ENSG00000146555ENST00000404826p.R1956Qc.5867G>ASubstitution - Missense
FHL1ENSG00000022267ENST00000539015p.?c.62-4G>AUnknown
FAM53CENSG00000120709ENST00000239906p.A137Tc.409G>ASubstitution - Missense
REPIN1ENSG00000214022ENST00000397281p.R479Hc.1436G>ASubstitution - Missense
PCDHGA5ENSG00000253485ENST00000518069p.S547Lc.1640C>TSubstitution - Missense
PCDHA5ENSG00000204965ENST00000529859p.A617Vc.1850C>TSubstitution - Missense
OLFM1ENSG00000130558ENST00000252854p.Q43*c.127C>TSubstitution - Nonsense
MFSD12ENSG00000161091ENST00000398558p.?c.1194+8T>CUnknown
PALM2-AKAP2ENSG00000157654ENST00000374530p.A461Ac.1383C>TSubstitution - coding silent
ADD1ENSG00000087274ENST00000264758p.E458Kc.1372G>ASubstitution - Missense
GRIA2ENSG00000120251ENST00000296526p.?c.1266+3A>GUnknown
RABEP1ENSG00000029725ENST00000262477p.A150Tc.448G>ASubstitution - Missense
MPP2ENSG00000108852ENST00000269095p.V445Mc.1333G>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.S1085Sc.3255A>GSubstitution - coding silent
KAL1ENSG00000011201ENST00000262648p.E246Kc.736G>ASubstitution - Missense
TUBGCP6ENSG00000128159ENST00000248846p.R1184Wc.3550C>TSubstitution - Missense
ZNF236ENSG00000130856ENST00000543926p.R607Hc.1820G>ASubstitution - Missense
GYPEENSG00000197465ENST00000358615p.G3Gc.9A>GSubstitution - coding silent
FKBP8ENSG00000105701ENST00000222308p.T214Ac.640A>GSubstitution - Missense
POM121ENSG00000196313ENST00000395270p.A664Tc.1990G>ASubstitution - Missense
PTCRAENSG00000171611ENST00000304672p.P55fs*113c.160delCDeletion - Frameshift
CUX1ENSG00000257923ENST00000292538p.?c.174+7C>TUnknown
TRERF1ENSG00000124496ENST00000372922p.T774Sc.2321C>GSubstitution - Missense
DBPENSG00000105516ENST00000222122p.R305Hc.914G>ASubstitution - Missense
NM_019085.1p.G192Gc.576C>TSubstitution - coding silent
USP40ENSG00000085982ENST00000450966p.?c.2749-6T>AUnknown
AGAP1ENSG00000157985ENST00000304032p.Y824Yc.2472C>TSubstitution - coding silent
TRIM41ENSG00000146063ENST00000351937p.T222Tc.666C>TSubstitution - coding silent
TXLNBENSG00000164440ENST00000358430p.E492Dc.1476G>TSubstitution - Missense
IQCEENSG00000106012ENST00000402050p.?c.1609-5_1609TCCAGA>CCAGUnknown
OGG1ENSG00000114026ENST00000302008p.F45Lc.135C>ASubstitution - Missense
EIF2AK1ENSG00000086232ENST00000199389p.P554Lc.1661C>TSubstitution - Missense
SLC25A40ENSG00000075303ENST00000341119p.S301Pc.901T>CSubstitution - Missense
PIGQENSG00000007541ENST00000321878p.L409Pc.1226T>CSubstitution - Missense
SYNPO2ENSG00000172403ENST00000307142p.T3Tc.9A>GSubstitution - coding silent
ZNF548ENSG00000188785ENST00000336128p.G18Gc.54C>TSubstitution - coding silent
RANBP2ENSG00000153201ENST00000283195p.F1961Ic.5881T>ASubstitution - Missense
ELMO3ENSG00000102890ENST00000393997p.S175Nc.524G>ASubstitution - Missense
CDH3ENSG00000062038ENST00000264012p.T276fs*21c.827delCDeletion - Frameshift
SEC31AENSG00000138674ENST00000395310p.S556Ac.1666T>GSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.Y1160Hc.3478T>CSubstitution - Missense
ENST00000316893p.A1920Ac.5760C>TSubstitution - coding silent
CDT1ENSG00000167513ENST00000301019p.A388Tc.1162G>ASubstitution - Missense
L3MBTL4ENSG00000154655ENST00000400105p.Y598Cc.1793A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.R26879Cc.80635C>TSubstitution - Missense
RBM47ENSG00000163694ENST00000381793p.A562Vc.1685C>TSubstitution - Missense
TRAM1ENSG00000067167ENST00000262213p.T67Pc.199A>CSubstitution - Missense
PREX2ENSG00000046889ENST00000288368p.G1553Rc.4657G>ASubstitution - Missense
TCF4ENSG00000196628ENST00000356073p.S484fs*3c.1450_1451insTInsertion - Frameshift
SLC6A2ENSG00000103546ENST00000379906p.I130fs*86c.388_389insAInsertion - Frameshift
HNF1BENSG00000108753ENST00000225893p.A263fs*3c.776_777insAGInsertion - Frameshift
DSC1ENSG00000134765ENST00000257197p.H573Hc.1719C>TSubstitution - coding silent
ENST00000411702p.F3788Fc.11364C>TSubstitution - coding silent
CCDC178ENSG00000166960ENST00000383096p.E307Gc.920A>GSubstitution - Missense
CCDC178ENSG00000166960ENST00000300227p.E307Gc.920A>GSubstitution - Missense
RUNX1T1ENSG00000079102ENST00000436581p.V501Vc.1503C>TSubstitution - coding silent
RUNX1T1ENSG00000079102ENST00000265814p.V490Vc.1470C>TSubstitution - coding silent
CDH26ENSG00000124215ENST00000244047p.K587Kc.1761G>ASubstitution - coding silent
PTPRZ1ENSG00000106278ENST00000393386p.V1214Vc.3642T>CSubstitution - coding silent
LSM14BENSG00000149657ENST00000279068p.T30Ac.88A>GSubstitution - Missense
ZCCHC12ENSG00000174460ENST00000310164p.R85Rc.255C>TSubstitution - coding silent
FBN3ENSG00000142449ENST00000270509p.R153Hc.458G>ASubstitution - Missense
TOM1L2ENSG00000175662ENST00000581396p.A152Tc.454G>ASubstitution - Missense
PCID2ENSG00000126226ENST00000246505p.V270Ic.808G>ASubstitution - Missense
CLK2ENSG00000176444ENST00000361168p.V177Vc.531A>GSubstitution - coding silent
NPAS3ENSG00000151322ENST00000356141p.G862Gc.2586C>TSubstitution - coding silent
SPG11ENSG00000104133ENST00000558319p.E1026fs*12c.3075delADeletion - Frameshift
GALCENSG00000054983ENST00000261304p.F87Fc.261T>CSubstitution - coding silent
ENST00000358254p.R513Qc.1538G>ASubstitution - Missense
CREBZFENSG00000137504ENST00000490820p.G286Gc.858C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000399617p.R1656Hc.4967G>ASubstitution - Missense
NBPF14ENSG00000122497ENST00000444640p.?c.104-3T>CUnknown
ACSM4ENSG00000215009ENST00000399422p.V119fs*1c.355delGDeletion - Frameshift
NAALAD2ENSG00000077616ENST00000534061p.R390Qc.1169G>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.R1568Kc.4703G>ASubstitution - Missense
CUL5ENSG00000166266ENST00000393094p.N565fs*18c.1687delADeletion - Frameshift
ENST00000399953_v65p.Y237Hc.709T>CSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.A3584Ac.10752C>TSubstitution - coding silent
OXCT2ENSG00000198754ENST00000327582p.T491Mc.1472C>TSubstitution - Missense
ATP1A1ENSG00000163399ENST00000295598p.A455Vc.1364C>TSubstitution - Missense
KDM2BENSG00000089094ENST00000377071p.V371Mc.1111G>ASubstitution - Missense
MEAF6ENSG00000163875ENST00000373075p.R59Cc.175C>TSubstitution - Missense
PLEKHA7ENSG00000166689ENST00000355661p.?c.2307+6T>CUnknown
DNHD1ENSG00000179532ENST00000254579p.A4416Vc.13247C>TSubstitution - Missense
KDM5AENSG00000073614ENST00000399788p.?c.1149+10C>TUnknown
CENPJENSG00000151849ENST00000381884p.V1170Ic.3508G>ASubstitution - Missense
VDRENSG00000111424ENST00000395324p.P372Pc.1116G>ASubstitution - coding silent
AGO4ENSG00000134698ENST00000373210p.?c.1725-7T>CUnknown
KATNAL1ENSG00000102781ENST00000380617p.T263Ac.787A>GSubstitution - Missense
PNLIPENSG00000175535ENST00000369221p.N162Sc.485A>GSubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.L2012Lc.6036A>GSubstitution - coding silent
WNT11ENSG00000085741ENST00000322563p.T68Tc.204G>ASubstitution - coding silent
RSF1ENSG00000048649ENST00000308488p.R1269Qc.3806G>ASubstitution - Missense
PGM2L1ENSG00000165434ENST00000298198p.R73Hc.218G>ASubstitution - Missense
BAG5ENSG00000166170ENST00000299204p.Y241Cc.722A>GSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.A2119fs*25c.6354delCDeletion - Frameshift
SIPA1L2ENSG00000116991ENST00000366630p.C1054fs*194c.3159delCDeletion - Frameshift
GUCY2CENSG00000070019ENST00000261170p.N726fs*17c.2171_2172insAInsertion - Frameshift
ARAP1ENSG00000186635ENST00000393609p.D1397Dc.4191C>TSubstitution - coding silent
RHBGENSG00000132677ENST00000400992p.G133Gc.399C>TSubstitution - coding silent
OR6C4ENSG00000179626ENST00000394256p.F101fs*31c.297delTDeletion - Frameshift
POMT1ENSG00000130714ENST00000372228p.Y282Yc.846C>TSubstitution - coding silent
RYR1ENSG00000196218ENST00000359596p.G2899Sc.8695G>ASubstitution - Missense
GK2ENSG00000196475ENST00000358842p.R486Qc.1457G>ASubstitution - Missense
FBXW7ENSG00000109670ENST00000296555p.R347Hc.1040G>ASubstitution - Missense
ZNF653ENSG00000161914ENST00000293771p.A425Ac.1275G>ASubstitution - coding silent
LOXHD1ENSG00000167210ENST00000536736p.G336Gc.1008C>TSubstitution - coding silent
MPRIPENSG00000133030ENST00000341712p.P353fs*30c.1052delCDeletion - Frameshift
ALPK3ENSG00000136383ENST00000258888p.P279Pc.837G>ASubstitution - coding silent
KIF6ENSG00000164627ENST00000287152p.L204fs*1c.611delTDeletion - Frameshift
DDX21ENSG00000165732ENST00000354185p.N117fs*9c.345delADeletion - Frameshift
DYNC1H1ENSG00000197102ENST00000360184p.F161fs*52c.477delTDeletion - Frameshift
STAMBPL1ENSG00000138134ENST00000371927p.K405fs*22c.1207delADeletion - Frameshift
GIT2ENSG00000139436ENST00000355312p.V141Mc.421G>ASubstitution - Missense
NRF1ENSG00000106459ENST00000393231p.T443Tc.1329T>CSubstitution - coding silent
RPL22ENSG00000116251ENST00000234875p.K15fs*5c.44delADeletion - Frameshift
ENST00000373722p.R175*c.523C>TSubstitution - Nonsense
WDR55ENSG00000120314ENST00000358337p.K341fs*8c.1015delADeletion - Frameshift
ENST00000372155p.T768Ac.2302A>GSubstitution - Missense
TCOF1ENSG00000070814ENST00000394269p.L169Lc.507G>ASubstitution - coding silent
TAF1AENSG00000143498ENST00000543857p.T39Tc.117T>GSubstitution - coding silent
SLC12A6ENSG00000140199ENST00000397707p.R850Cc.2548C>TSubstitution - Missense
UBE3BENSG00000151148ENST00000280774p.?c.447+3_447+12delaacaaaaaaaUnknown
AOC1ENSG00000002726ENST00000416793p.P760fs*>11c.2275delCDeletion - Frameshift
ENST00000431552p.A330Ac.990G>ASubstitution - coding silent
COL27A1ENSG00000196739ENST00000356083p.P726Sc.2176C>TSubstitution - Missense
POF1BENSG00000124429ENST00000373145p.E277Kc.829G>ASubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.H2318Rc.6953A>GSubstitution - Missense
ITGA1ENSG00000213949ENST00000282588p.G245Gc.735C>TSubstitution - coding silent
C9orf117ENSG00000160401ENST00000373295p.A227Tc.679G>ASubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.G1107Sc.3319G>ASubstitution - Missense
ABCA3ENSG00000167972ENST00000301732p.S1220Lc.3659C>TSubstitution - Missense
LRFN1ENSG00000128011ENST00000248668p.R220Hc.659G>ASubstitution - Missense
SUSD2ENSG00000099994ENST00000358321p.H271Hc.813C>TSubstitution - coding silent
GCAENSG00000115271ENST00000437150p.L35Lc.105C>TSubstitution - coding silent
NM_152274.2p.D210Nc.628G>ASubstitution - Missense
CA4ENSG00000167434ENST00000300900p.K66fs*25c.193delADeletion - Frameshift
ZFR2ENSG00000105278ENST00000262961p.E682Kc.2044G>ASubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.P1601Lc.4802C>TSubstitution - Missense
MSH2ENSG00000095002ENST00000233146p.Q344Kc.1030C>ASubstitution - Missense
TRIOENSG00000038382ENST00000344204p.G2396fs*17c.7180delCDeletion - Frameshift
PPARGC1BENSG00000155846ENST00000309241p.R967Cc.2899C>TSubstitution - Missense
DDX31ENSG00000125485ENST00000372159p.G748Gc.2244A>GSubstitution - coding silent
FAM184AENSG00000111879ENST00000338891p.I697Tc.2090T>CSubstitution - Missense
CTSBENSG00000164733ENST00000353047p.E201fs*74c.601delGDeletion - Frameshift
C5orf56ENSG00000197536ENST00000337752p.C54Yc.161G>ASubstitution - Missense
SLIT2ENSG00000145147ENST00000504154p.A30Tc.88G>ASubstitution - Missense
DSELENSG00000171451ENST00000310045p.I697Ic.2091C>ASubstitution - coding silent
CDH7ENSG00000081138ENST00000323011p.N256Nc.768C>TSubstitution - coding silent
FAM104BENSG00000182518ENST00000425133p.V87Ac.260T>CSubstitution - Missense
FKBP8ENSG00000105701ENST00000453489p.T242Ac.724A>GSubstitution - Missense
FAM46DENSG00000174016ENST00000538312p.V372fs*17c.1107delADeletion - Frameshift
FOCADENSG00000188352ENST00000380249p.P1708Pc.5124G>ASubstitution - coding silent
MAGEE1ENSG00000198934ENST00000361470p.L485Pc.1454T>CSubstitution - Missense
EXD3ENSG00000187609ENST00000340951p.A253Vc.758C>TSubstitution - Missense
GRID2IPENSG00000215045ENST00000457091p.R724Qc.2171G>ASubstitution - Missense
SH2B1ENSG00000178188ENST00000322610p.G441Gc.1323C>GSubstitution - coding silent
EXOC3L2ENSG00000130201ENST00000252482p.R72Qc.215G>ASubstitution - Missense
ARHGAP25ENSG00000163219ENST00000544262p.Q39*c.115C>TSubstitution - Nonsense
FLNAENSG00000196924ENST00000369850p.G438Gc.1314C>TSubstitution - coding silent
FAM65AENSG00000039523ENST00000379312p.R950Wc.2848C>TSubstitution - Missense
GPR114ENSG00000159618ENST00000340339p.L329Ic.985C>ASubstitution - Missense
WFIKKN1ENSG00000127578ENST00000319070p.C105Yc.314G>ASubstitution - Missense
MAP3K5ENSG00000197442ENST00000359015p.A125Tc.373G>ASubstitution - Missense
HUWE1ENSG00000086758ENST00000342160p.R3133Hc.9398G>ASubstitution - Missense
CPNE9ENSG00000144550ENST00000383832p.T440Tc.1320G>ASubstitution - coding silent
ENST00000405167p.P2448fs*428c.7343delCDeletion - Frameshift
OGG1ENSG00000114026ENST00000344629p.F45Lc.135C>ASubstitution - Missense
ZNF432ENSG00000256087ENST00000221315p.?c.142+1G>AUnknown
ZNF600ENSG00000189190ENST00000338230p.G105Cc.313G>TSubstitution - Missense
PRKCGENSG00000126583ENST00000540413p.I446Tc.1337T>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.L12060fs*24c.36179delTDeletion - Frameshift
TTNENSG00000155657ENST00000342175p.L12127fs*24c.36380delTDeletion - Frameshift
VPS35ENSG00000069329ENST00000299138p.S391Sc.1173T>CSubstitution - coding silent
PHLPP1ENSG00000081913ENST00000400316p.C417Cc.1251T>CSubstitution - coding silent
TIAM1ENSG00000156299ENST00000286827p.R1042Hc.3125G>ASubstitution - Missense
CYB561D2ENSG00000114395ENST00000232508p.L44Mc.130C>ASubstitution - Missense
TCP10ENSG00000203690ENST00000397829p.E9Kc.25G>ASubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.E3106Kc.9316G>ASubstitution - Missense
SMARCA4ENSG00000127616ENST00000358026p.Q1248Rc.3743A>GSubstitution - Missense
TBC1D2ENSG00000095383ENST00000375066p.P187Sc.559C>TSubstitution - Missense
DNAH2ENSG00000183914ENST00000389173p.I4218Vc.12652A>GSubstitution - Missense
KIAA1429ENSG00000164944ENST00000297591p.T1009Ic.3026C>TSubstitution - Missense
SETBP1ENSG00000152217ENST00000282030p.P637Pc.1911G>TSubstitution - coding silent
RNF213ENSG00000173821ENST00000336301p.C10Cc.30C>TSubstitution - coding silent
CCDC57ENSG00000176155ENST00000389641p.V134Ic.400G>ASubstitution - Missense
NCOA6ENSG00000198646ENST00000374796p.A1127Ac.3381G>ASubstitution - coding silent
C9orf131ENSG00000174038ENST00000312292p.G216Dc.647G>ASubstitution - Missense
GBA2ENSG00000070610ENST00000378103p.R314Hc.941G>ASubstitution - Missense
IL17RDENSG00000144730ENST00000296318p.T315Tc.945G>ASubstitution - coding silent
OTTHUMT00000057774.1p.S10Sc.30C>TSubstitution - coding silent
SAMHD1ENSG00000101347ENST00000262878p.L549Lc.1645C>TSubstitution - coding silent
BICD2ENSG00000185963ENST00000356884p.V512Ic.1534G>ASubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.?c.3838+8G>AUnknown
C15orf52ENSG00000188549ENST00000559313p.K239Kc.717G>ASubstitution - coding silent
FAM98BENSG00000171262ENST00000491535p.E21Ec.63G>ASubstitution - coding silent
HHIPL1ENSG00000182218ENST00000330710p.G324Rc.970G>ASubstitution - Missense
MAP3K6ENSG00000142733ENST00000374040p.A627Tc.1879G>ASubstitution - Missense
C1orf180ENSG00000180869ENST00000370624p.D26Gc.77A>GSubstitution - Missense
ZRANB2ENSG00000132485ENST00000254821p.S254Lc.761C>TSubstitution - Missense
TRIM9ENSG00000100505ENST00000338969p.S80Sc.240C>ASubstitution - coding silent
TPM1ENSG00000140416ENST00000288398p.E122Gc.365A>GSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.V588Mc.1762G>ASubstitution - Missense
CILPENSG00000138615ENST00000261883p.R150Cc.448C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.Q448Rc.1343A>GSubstitution - Missense
TRIM46ENSG00000163462ENST00000334634p.K271Ec.811A>GSubstitution - Missense
CASZ1ENSG00000130940ENST00000377022p.D152Dc.456C>TSubstitution - coding silent
NXPE4ENSG00000137634ENST00000375478p.V335Vc.1005C>TSubstitution - coding silent
SWT1ENSG00000116668ENST00000367501p.?c.1139-1G>AUnknown
ARHGEF10LENSG00000074964ENST00000375408p.S189Gc.565A>GSubstitution - Missense
CCDC73ENSG00000186714ENST00000335185p.A169Tc.505G>ASubstitution - Missense
PRMT3ENSG00000185238ENST00000331079p.K489fs*11c.1463delADeletion - Frameshift
PCNXENSG00000100731ENST00000304743p.R2275Wc.6823C>TSubstitution - Missense
COL2A1ENSG00000139219ENST00000380518p.G906Ec.2717G>ASubstitution - Missense
MUC19ENSG00000205592ENST00000425730p.Y40fs*138c.112delTDeletion - Frameshift
EPB41ENSG00000159023ENST00000343067p.G573Dc.1718G>ASubstitution - Missense
KATNAL1ENSG00000102781ENST00000380617p.R395Hc.1184G>ASubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.A3181Ac.9543C>GSubstitution - coding silent
UNC93B1ENSG00000110057ENST00000227471p.A309Tc.925G>ASubstitution - Missense
PTPRCAPENSG00000213402ENST00000326294p.L180Pc.539T>CSubstitution - Missense
PPFIA1ENSG00000131626ENST00000253925p.S700Pc.2098T>CSubstitution - Missense
BCL2A1ENSG00000140379ENST00000335661p.P110Lc.329C>TSubstitution - Missense
NID1ENSG00000116962ENST00000264187p.V619Ic.1855G>ASubstitution - Missense
DDR2ENSG00000162733ENST00000367922p.R668Hc.2003G>ASubstitution - Missense
CNGA4ENSG00000132259ENST00000379936p.R156Hc.467G>ASubstitution - Missense
AHCTF1ENSG00000153207ENST00000391829p.?c.6609-4T>CUnknown
LOXL4ENSG00000138131ENST00000260702p.R188Wc.562C>TSubstitution - Missense
SERPINC1ENSG00000117601ENST00000367698p.G411Dc.1232G>ASubstitution - Missense
ASPGENSG00000166183ENST00000551177p.?c.754-9G>AUnknown
CDC42BPBENSG00000198752ENST00000361246p.V372Mc.1114G>ASubstitution - Missense
ANO1ENSG00000131620ENST00000355303p.R814Hc.2441G>ASubstitution - Missense
ADRBK1ENSG00000173020ENST00000308595p.S244Sc.732G>ASubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.A1849fs*25c.5544delCDeletion - Frameshift
DNAJB13ENSG00000187726ENST00000339764p.K307delKc.914_916delAGADeletion - In frame
BAG5ENSG00000166170ENST00000299204p.C118Cc.354C>TSubstitution - coding silent
RRNAD1ENSG00000143303ENST00000368216p.P211Lc.632C>TSubstitution - Missense
ROBO3ENSG00000154134ENST00000397801p.R133Rc.399C>TSubstitution - coding silent
MYBPC3ENSG00000134571ENST00000399249p.V846Ic.2536G>ASubstitution - Missense
KBTBD7ENSG00000120696ENST00000379483p.S641Sc.1923T>CSubstitution - coding silent
SCAMP5ENSG00000198794ENST00000361900p.A156Vc.467C>TSubstitution - Missense
SEMA7AENSG00000138623ENST00000261918p.S531Yc.1592C>ASubstitution - Missense
KPNA3ENSG00000102753ENST00000261667p.?c.1209+10A>CUnknown
ZNF646ENSG00000167395ENST00000300850p.R1358Qc.4073G>ASubstitution - Missense
RAB40BENSG00000141542ENST00000571995p.Q264fs*>16c.790_791insCInsertion - Frameshift
KLC3ENSG00000104892ENST00000391946p.R306Hc.917G>ASubstitution - Missense
B3GALT1ENSG00000172318ENST00000392690p.D103fs*10c.302delGDeletion - Frameshift
TRAF1ENSG00000056558ENST00000373887p.V289Ic.865G>ASubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.R1739Cc.5215C>TSubstitution - Missense
SLIT3ENSG00000184347ENST00000404867p.S1334Sc.4002C>TSubstitution - coding silent
TIAM2ENSG00000146426ENST00000456144p.T93Mc.278C>TSubstitution - Missense
COL4A5ENSG00000188153ENST00000328300p.R1680Qc.5039G>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000361724p.F763fs*11c.2281_2282delTCDeletion - Frameshift
DNAH17ENSG00000187775ENST00000389840p.V1259Ic.3775G>ASubstitution - Missense
ZNF407ENSG00000215421ENST00000577538p.S54fs*7c.155_156insTInsertion - Frameshift
SIDT2ENSG00000149577ENST00000278951p.R445Cc.1333C>TSubstitution - Missense
ENST00000357944p.R97Cc.289C>TSubstitution - Missense
OR5D14ENSG00000186113ENST00000335605p.A205Vc.614C>TSubstitution - Missense
DDX60LENSG00000181381ENST00000260184p.C294Rc.880T>CSubstitution - Missense
ZNF572ENSG00000180938ENST00000319286p.R457Rc.1371G>ASubstitution - coding silent
GAPVD1ENSG00000165219ENST00000394105p.R990Cc.2968C>TSubstitution - Missense
SLIT3ENSG00000184347ENST00000519560p.Q1102fs*9c.3304_3305insCInsertion - Frameshift
SPTAN1ENSG00000197694ENST00000372731p.A2438Ac.7314C>TSubstitution - coding silent
TTC16ENSG00000167094ENST00000373289p.A459Tc.1375G>ASubstitution - Missense
ENST00000359961p.H628Yc.1882C>TSubstitution - Missense
TOX2ENSG00000124191ENST00000413823p.R62Cc.184C>TSubstitution - Missense
ENST00000251268_v61p.A2539Ec.7616C>ASubstitution - Missense
HYDINENSG00000157423ENST00000321489p.S531Fc.1592C>TSubstitution - Missense
NR4A2ENSG00000153234ENST00000339562p.D268Nc.802G>ASubstitution - Missense
ENST00000316490_v65p.C4299Sc.12896G>CSubstitution - Missense
CASP2ENSG00000106144ENST00000310447p.R22Gc.64A>GSubstitution - Missense
NOS3ENSG00000164867ENST00000297494p.T879Tc.2637C>TSubstitution - coding silent
THADAENSG00000115970ENST00000405975p.A1783Vc.5348C>TSubstitution - Missense
NOTCH1ENSG00000148400ENST00000277541p.Y2074Yc.6222C>TSubstitution - coding silent
ZNF793ENSG00000188227ENST00000445217p.Q93*c.277C>TSubstitution - Nonsense
BZRAP1ENSG00000005379ENST00000355701p.L1399Lc.4197A>GSubstitution - coding silent
ZNF407ENSG00000215421ENST00000299687p.S54fs*7c.153_154insGInsertion - Frameshift
ARRDC1ENSG00000197070ENST00000371421p.S340Sc.1020G>ASubstitution - coding silent
TSC22D4ENSG00000166925ENST00000300181p.A220Vc.659C>TSubstitution - Missense
KLHDC3ENSG00000124702ENST00000326974p.?c.1003+6T>CUnknown
ABCA2ENSG00000107331ENST00000341511p.H621Rc.1862A>GSubstitution - Missense
ABCA2ENSG00000107331ENST00000341511p.S576Sc.1728C>TSubstitution - coding silent
RNF40ENSG00000103549ENST00000324685p.G362Gc.1086G>ASubstitution - coding silent
ENST00000317082p.T136Tc.408T>CSubstitution - coding silent
DIS3L2ENSG00000144535ENST00000273009p.S31Sc.93G>ASubstitution - coding silent
TTLL4ENSG00000135912ENST00000392102p.R120Cc.358C>TSubstitution - Missense
PUS10ENSG00000162927ENST00000316752p.S370Sc.1110A>GSubstitution - coding silent
SASH1ENSG00000111961ENST00000367467p.P284fs*4c.849_850insAInsertion - Frameshift
COL4A4ENSG00000081052ENST00000396625p.G864Gc.2592G>TSubstitution - coding silent
AAMPENSG00000127837ENST00000248450p.R434Hc.1301G>ASubstitution - Missense
ARHGAP8ENSG00000241484ENST00000389774p.Y130Hc.388T>CSubstitution - Missense
IQSEC1ENSG00000144711ENST00000429247p.A993fs*127c.2977_2981GCCAC>CCAComplex - frameshift
PKDREJENSG00000130943ENST00000253255p.V1198Mc.3592G>ASubstitution - Missense
IFT122ENSG00000163913ENST00000296266p.E285Ec.855A>GSubstitution - coding silent
PELI1ENSG00000197329ENST00000358912p.K329Rc.986A>GSubstitution - Missense
NM_053025p.?c.754+10A>GUnknown
ENST00000367213p.R549Pc.1646G>CSubstitution - Missense
PLXNA3ENSG00000130827ENST00000369682p.T1349Mc.4046C>TSubstitution - Missense
NHEJ1ENSG00000187736ENST00000356853p.V27Vc.81T>CSubstitution - coding silent
CRIPAKENSG00000179979ENST00000324803p.M317Vc.949A>GSubstitution - Missense
ALPK1ENSG00000073331ENST00000458497p.G1162Ac.3485G>CSubstitution - Missense
CTDNEP1ENSG00000175826ENST00000318988p.L221Lc.663G>ASubstitution - coding silent
ODC1ENSG00000115758ENST00000234111p.R369Hc.1106G>ASubstitution - Missense
NKD2ENSG00000145506ENST00000382730p.H129fs*>40c.380delCDeletion - Frameshift
ETNPPLENSG00000164089ENST00000296486p.K373Rc.1118A>GSubstitution - Missense
C4orf22ENSG00000197826ENST00000358105p.R150fs*17c.448_449insAInsertion - Frameshift
FRAS1ENSG00000138759ENST00000264895p.T3083Mc.9248C>TSubstitution - Missense
MAGED1ENSG00000179222ENST00000375695p.A286Tc.856G>ASubstitution - Missense
OGFRENSG00000060491ENST00000370461p.?c.164-3C>TUnknown
ZNF665ENSG00000197497ENST00000396424p.R366Qc.1097G>ASubstitution - Missense
SLC17A9ENSG00000101194ENST00000370351p.?c.60-6C>AUnknown
SLC5A4ENSG00000100191ENST00000266086p.P69Sc.205C>TSubstitution - Missense
CRIM1ENSG00000150938ENST00000280527p.C456Yc.1367G>ASubstitution - Missense
HDAC4ENSG00000068024ENST00000345617p.R283Hc.848G>ASubstitution - Missense
CDH15ENSG00000129910ENST00000289746p.G217Ec.650G>ASubstitution - Missense
BANPENSG00000172530ENST00000355163p.S309Sc.927G>ASubstitution - coding silent
DCCENSG00000187323ENST00000442544p.T746Ac.2236A>GSubstitution - Missense
MICAL3ENSG00000243156ENST00000429452p.D976Gc.2927A>GSubstitution - Missense
RIMBP3ENSG00000196622ENST00000426804p.D883Gc.2648A>GSubstitution - Missense
MTUS1ENSG00000129422ENST00000262102p.T448Mc.1343C>TSubstitution - Missense
ENSG00000173213ENST00000308911p.T178Ic.533C>TSubstitution - Missense
KIAA1328ENSG00000150477ENST00000280020p.G32*c.94G>TSubstitution - Nonsense
SMARCA4ENSG00000127616ENST00000429416p.M527Tc.1580T>CSubstitution - Missense
ASAP2ENSG00000151693ENST00000281419p.E635Kc.1903G>ASubstitution - Missense
MNTENSG00000070444ENST00000174618p.P92Tc.274C>ASubstitution - Missense
FLIIENSG00000177731ENST00000327031p.E683*c.2047G>TSubstitution - Nonsense
ZNF624ENSG00000197566ENST00000311331p.H522Hc.1566C>TSubstitution - coding silent
MID2ENSG00000080561ENST00000262843p.I512Tc.1535T>CSubstitution - Missense
ENST00000359032_v68p.C225Cc.675C>TSubstitution - coding silent
ENST00000359032_v68p.V483Ic.1447G>ASubstitution - Missense
POLD1ENSG00000062822ENST00000440232p.P116fs*53c.343delCDeletion - Frameshift
SOGA1ENSG00000149639ENST00000237536p.R682Wc.2044C>TSubstitution - Missense
TNRC6CENSG00000078687ENST00000335749p.T927Mc.2780C>TSubstitution - Missense
FGGYENSG00000172456ENST00000303721p.A255Tc.763G>ASubstitution - Missense
SLC44A5ENSG00000137968ENST00000370855p.V458Ic.1372G>ASubstitution - Missense
ACOT7ENSG00000097021ENST00000377845p.R79Hc.236G>ASubstitution - Missense
MACROD2ENSG00000172264ENST00000217246p.N283Sc.848A>GSubstitution - Missense
CUL4AENSG00000139842ENST00000375440p.G206Sc.616G>ASubstitution - Missense
PGLYRP3ENSG00000159527ENST00000290722p.G326Gc.978G>ASubstitution - coding silent
BRMS1LENSG00000100916ENST00000216807p.T241Mc.722C>TSubstitution - Missense
LRRK1ENSG00000154237ENST00000388948p.T1563Tc.4689G>ASubstitution - coding silent
XPR1ENSG00000143324ENST00000367590p.R273Qc.818G>ASubstitution - Missense
EP400ENSG00000183495ENST00000389561p.Y954Yc.2862C>TSubstitution - coding silent
DENND5AENSG00000184014ENST00000328194p.V767Ac.2300T>CSubstitution - Missense
SU_SMG1p.T2310Mc.6929C>TSubstitution - Missense
NUP107ENSG00000111581ENST00000229179p.H862Rc.2585A>GSubstitution - Missense
ENST00000395293p.A210Tc.628G>ASubstitution - Missense
RBP3ENSG00000107618ENST00000224600p.P1088Lc.3263C>TSubstitution - Missense
CARSENSG00000110619ENST00000397111p.I601Ic.1803T>CSubstitution - coding silent
CASP1ENSG00000137752ENST00000533400p.K203Kc.609A>GSubstitution - coding silent
MAP1AENSG00000166963ENST00000300231p.A2297Vc.6890C>TSubstitution - Missense
ABCC8ENSG00000006071ENST00000389817p.?c.2116+7C>TUnknown
WNK2ENSG00000165238ENST00000297954p.D1638fs*35c.4906delGDeletion - Frameshift
SCN4AENSG00000007314ENST00000435607p.D1764Dc.5292C>TSubstitution - coding silent
ENST00000316490_v65p.R2319Wc.6955C>TSubstitution - Missense
VAPBENSG00000124164ENST00000475243p.V234Ic.700G>ASubstitution - Missense
ANKRD27ENSG00000105186ENST00000306065p.A589Ac.1767G>ASubstitution - coding silent
WNK2ENSG00000165238ENST00000395477p.A678Tc.2032G>ASubstitution - Missense
PLECENSG00000178209ENST00000354589p.L2729Lc.8187G>ASubstitution - coding silent
ABCF2ENSG00000033050ENST00000222388p.H337Hc.1011C>TSubstitution - coding silent
KCNK9ENSG00000169427ENST00000522317p.D27Dc.81C>TSubstitution - coding silent
NAPRT1ENSG00000147813ENST00000276844p.T409Tc.1227C>TSubstitution - coding silent
DNAH17ENSG00000187775ENST00000389840p.C2317Cc.6951C>TSubstitution - coding silent
GABRR2ENSG00000111886ENST00000402938p.V108Ic.322G>ASubstitution - Missense
EPM2AENSG00000112425ENST00000435470p.?c.478-5C>TUnknown
SLC12A8ENSG00000221955ENST00000430155p.G56fs*46c.167delGDeletion - Frameshift
SLC17A9ENSG00000101194ENST00000411611p.?c.120-9G>AUnknown
CPNE9ENSG00000144550ENST00000383831p.T440Tc.1320G>ASubstitution - coding silent
PTPRTENSG00000196090ENST00000373184p.V1416Mc.4246G>ASubstitution - Missense
PLXND1ENSG00000004399ENST00000393239p.V465Mc.1393G>ASubstitution - Missense
CR1ENSG00000203710ENST00000367049p.P110Tc.328C>ASubstitution - Missense
SEPHS2ENSG00000179918ENST00000478753p.G405Gc.1215C>TSubstitution - coding silent
WNK2ENSG00000165238ENST00000395477p.D1601fs*35c.4795delGDeletion - Frameshift
HYOU1ENSG00000149428ENST00000543287p.A338Vc.1013C>TSubstitution - Missense
ARHGEF2ENSG00000116584ENST00000368315p.R132Wc.394C>TSubstitution - Missense
LPHN2ENSG00000117114ENST00000370721p.T776Tc.2328C>ASubstitution - coding silent
MYOFENSG00000138119ENST00000371502p.E1095Dc.3285A>CSubstitution - Missense
HELLSENSG00000119969ENST00000371332p.F798Sc.2393T>CSubstitution - Missense
DDX41ENSG00000183258ENST00000507955p.?c.799-3C>TUnknown
USP20ENSG00000136878ENST00000372429p.C53Cc.159C>TSubstitution - coding silent
USP20ENSG00000136878ENST00000372429p.C53Cc.159C>TSubstitution - coding silent
OR10H5ENSG00000172519ENST00000308940p.A76Vc.227C>TSubstitution - Missense
TNXBENSG00000168477ENST00000375247p.P2499Pc.7497G>ASubstitution - coding silent
HLA-DMBENSG00000242574ENST00000418107p.P63Hc.188C>ASubstitution - Missense
CDH22ENSG00000149654ENST00000372262p.N273Sc.818A>GSubstitution - Missense
ACVR2AENSG00000121989ENST00000241416p.C104Cc.312C>TSubstitution - coding silent
DDX1ENSG00000079785ENST00000381341p.?c.259+8T>CUnknown
PRPF40AENSG00000196504ENST00000410080p.H601Yc.1801C>TSubstitution - Missense
PRPF40AENSG00000196504ENST00000354363p.H497Yc.1489C>TSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Ac.418T>GSubstitution - Missense
ABCF1ENSG00000204574ENST00000326195p.R604Hc.1811G>ASubstitution - Missense
STARD3NLENSG00000010270ENST00000396013p.G206Sc.616G>ASubstitution - Missense
ZBTB7AENSG00000178951ENST00000322357p.V104Ac.311T>CSubstitution - Missense
HSPA9ENSG00000113013ENST00000297185p.?c.1410+7G>AUnknown
PCDHA11ENSG00000249158ENST00000398640p.V589Mc.1765G>ASubstitution - Missense
IDH3GENSG00000067829ENST00000217901p.?c.924+10G>AUnknown
SGCDENSG00000170624ENST00000337851p.R31Qc.92G>ASubstitution - Missense
ZKSCAN1ENSG00000106261ENST00000324306p.G39Vc.116G>TSubstitution - Missense
XM_499251.1p.R644Rc.1932G>ASubstitution - coding silent
PCDHGA5ENSG00000253485ENST00000518069p.A499Ac.1497G>ASubstitution - coding silent
SMARCD3ENSG00000082014ENST00000262188p.T235Mc.704C>TSubstitution - Missense
ENST00000428722p.W69*c.207G>ASubstitution - Nonsense
MEI1ENSG00000167077ENST00000300398p.R61Cc.181C>TSubstitution - Missense
TEX10ENSG00000136891ENST00000374902p.R178Cc.532C>TSubstitution - Missense
PCDH11XENSG00000102290ENST00000395337p.F763fs*11c.2281_2282delTCDeletion - Frameshift
TUBE1ENSG00000074935ENST00000368662p.E198Ec.594A>GSubstitution - coding silent
CRTC1ENSG00000105662ENST00000321949p.I602Ic.1806C>TSubstitution - coding silent
VCXENSG00000182583ENST00000381059p.A60Vc.179C>TSubstitution - Missense
MAP1BENSG00000131711ENST00000296755p.P1296Pc.3888G>ASubstitution - coding silent
SETD2ENSG00000181555ENST00000330022p.Q784Qc.2352G>ASubstitution - coding silent
AP3B1ENSG00000132842ENST00000255194p.?c.1651-8T>CUnknown
LIG1ENSG00000105486ENST00000263274p.E213Qc.637G>CSubstitution - Missense
ALDOAENSG00000149925ENST00000338110p.F94Lc.280T>CSubstitution - Missense
NM_006596.3p.F98Cc.293T>GSubstitution - Missense
ENST00000544984p.G434Wc.1300G>TSubstitution - Missense
MED12ENSG00000184634ENST00000374080p.R483Qc.1448G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.?c.17663-6G>AUnknown
SEC11CENSG00000166562ENST00000299714p.G67Gc.201C>TSubstitution - coding silent
DIP2AENSG00000160305ENST00000417564p.R1266Gc.3796A>GSubstitution - Missense
QARSENSG00000172053ENST00000420147p.M1Vc.1A>GSubstitution - Missense
CORINENSG00000145244ENST00000273857p.M1Tc.2T>CSubstitution - Missense
RBM47ENSG00000163694ENST00000319592p.A493Vc.1478C>TSubstitution - Missense
ENST00000273600p.E3106Kc.9316G>ASubstitution - Missense
TRRAPENSG00000196367ENST00000359863p.A747Vc.2240C>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.T570fs*35c.1709_1710delCADeletion - Frameshift
GUCY2DENSG00000132518ENST00000254854p.R199Hc.596G>ASubstitution - Missense
RNF213ENSG00000173821ENST00000336301p.Q1089*c.3265C>TSubstitution - Nonsense
SOGA1ENSG00000149639ENST00000279034p.R444Wc.1330C>TSubstitution - Missense
SLC23A2ENSG00000089057ENST00000338244p.Q139Qc.417G>ASubstitution - coding silent
XM_210048.3p.R84Rc.252C>TSubstitution - coding silent
HIATL1ENSG00000148110ENST00000375344p.?c.915+2T>CUnknown
GPATCH1ENSG00000076650ENST00000170564p.S900Sc.2700C>TSubstitution - coding silent
COL5A2ENSG00000204262ENST00000374866p.?c.691-7A>GUnknown
APOBENSG00000084674ENST00000233242p.N3580Nc.10740C>TSubstitution - coding silent
PLS3ENSG00000102024ENST00000355899p.I289fs*33c.860delADeletion - Frameshift
RAB33AENSG00000134594ENST00000257017p.A112Ac.336C>TSubstitution - coding silent
ZRANB2ENSG00000132485ENST00000370920p.S254Lc.761C>TSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.A2841fs*14c.8513_8514insTInsertion - Frameshift
FAM98BENSG00000171262ENST00000397609p.E21Ec.63G>ASubstitution - coding silent
DDX11ENSG00000013573ENST00000407793p.F317Fc.951C>TSubstitution - coding silent
CPNE8ENSG00000139117ENST00000331366p.I467Ic.1401T>CSubstitution - coding silent
B4GALNT3ENSG00000139044ENST00000266383p.P871Qc.2612C>ASubstitution - Missense
SU_QSKp.T718Nc.2153C>ASubstitution - Missense
MRVI1ENSG00000072952ENST00000547195p.R314fs*47c.940delCDeletion - Frameshift
SLC8A3ENSG00000100678ENST00000357887p.E147Ac.440A>CSubstitution - Missense
NSUN6ENSG00000241058ENST00000377304p.R214Sc.640C>ASubstitution - Missense
CSF1ENSG00000184371ENST00000369802p.D225Ac.674A>CSubstitution - Missense
NBPF12ENSG00000186275ENST00000442909p.Q27fs*18c.75delCDeletion - Frameshift
NOS1ENSG00000089250ENST00000317775p.M1389Ic.4167G>ASubstitution - Missense
NM_032590.2p.V10Mc.28G>ASubstitution - Missense
KDM2BENSG00000089094ENST00000377071p.K27fs*10c.77_78insAInsertion - Frameshift
ARHGAP22ENSG00000128805ENST00000249601p.R170fs*34c.508delCDeletion - Frameshift
ARHGEF12ENSG00000196914ENST00000397843p.L249Lc.745C>TSubstitution - coding silent
NPAP1ENSG00000185823ENST00000329468p.K648Nc.1944A>TSubstitution - Missense
CCKBRENSG00000110148ENST00000334619p.T167Tc.501G>ASubstitution - coding silent
ADCY10ENSG00000143199ENST00000367851p.P931Hc.2792C>ASubstitution - Missense
RPRD2ENSG00000163125ENST00000369068p.A1051Tc.3151G>ASubstitution - Missense
NM_002779.2p.M443Vc.1327A>GSubstitution - Missense
LNX2ENSG00000139517ENST00000316334p.R323*c.967C>TSubstitution - Nonsense
CSMD2ENSG00000121904ENST00000241312p.L2771Lc.8313G>TSubstitution - coding silent
EBF3ENSG00000108001ENST00000355311p.P365Tc.1093C>ASubstitution - Missense
OR4K14ENSG00000169484ENST00000305045p.V146Ac.437T>CSubstitution - Missense
RNF31ENSG00000092098ENST00000324103p.Q622Rc.1865A>GSubstitution - Missense
ARAP1ENSG00000186635ENST00000334211p.D1152Dc.3456C>TSubstitution - coding silent
TICRRENSG00000140534ENST00000268138p.S1097Sc.3291G>ASubstitution - coding silent
PRMT5ENSG00000100462ENST00000324366p.N532Dc.1594A>GSubstitution - Missense
OR10G9ENSG00000236981ENST00000375024p.A23Tc.67G>ASubstitution - Missense
PLEKHA5ENSG00000052126ENST00000429027p.T1235Pc.3703A>CSubstitution - Missense
LDB3ENSG00000122367ENST00000429277p.A284Vc.851C>TSubstitution - Missense
SVILENSG00000197321ENST00000355867p.F1663Lc.4987T>CSubstitution - Missense
KRT77ENSG00000189182ENST00000341809p.?c.759-9G>AUnknown
ESPL1ENSG00000135476ENST00000257934p.K471Nc.1413G>TSubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.D1156Dc.3468C>TSubstitution - coding silent
C8orf22ENSG00000168333ENST00000399653p.R18Qc.53G>ASubstitution - Missense
BRWD1ENSG00000185658ENST00000342449p.T1816fs*6c.5446_5447insAInsertion - Frameshift
CGB2ENSG00000104818ENST00000359342p.S145fs*>19c.427delCDeletion - Frameshift
TMPOENSG00000120802ENST00000556029p.T99fs*12c.288delADeletion - Frameshift
TNFSF8ENSG00000106952ENST00000223795p.V186Ic.556G>ASubstitution - Missense
TRAPPC8ENSG00000153339ENST00000283351p.F679fs*18c.2037delTDeletion - Frameshift
SLC9C1ENSG00000172139ENST00000305815p.F10fs*11c.29delTDeletion - Frameshift
SSH1ENSG00000084112ENST00000326495p.V423Vc.1269A>GSubstitution - coding silent
FARP1ENSG00000152767ENST00000319562p.P121Pc.363G>ASubstitution - coding silent
MAP3K12ENSG00000139625ENST00000267079p.A593Tc.1777G>ASubstitution - Missense
LDB3ENSG00000122367ENST00000372056p.A284Vc.851C>TSubstitution - Missense
ARHGAP19ENSG00000213390ENST00000358531p.G492fs*>3c.1473delADeletion - Frameshift
ACPL2ENSG00000155893ENST00000286353p.R259Hc.776G>ASubstitution - Missense
PLEKHH2ENSG00000152527ENST00000282406p.S183Lc.548C>TSubstitution - Missense
PCDHB7ENSG00000113212ENST00000231137p.P678Pc.2034G>ASubstitution - coding silent
GIGYF1ENSG00000146830ENST00000275732p.G270fs*75c.809delGDeletion - Frameshift
FLNAENSG00000196924ENST00000369850p.G438Gc.1314C>TSubstitution - coding silent
NM_133170.2p.V1428Mc.4282G>ASubstitution - Missense
RALGDSENSG00000160271ENST00000393157p.P553Lc.1658C>TSubstitution - Missense
ZBED6CLENSG00000188707ENST00000343855p.V131Mc.391G>ASubstitution - Missense
ACSL6ENSG00000164398ENST00000379249p.G473Gc.1419C>TSubstitution - coding silent
MAP3K13ENSG00000073803ENST00000535426p.V38Ic.112G>ASubstitution - Missense
TOP3BENSG00000100038ENST00000413067p.A134Vc.401C>TSubstitution - Missense
BAIAP3ENSG00000007516ENST00000397488p.?c.1861-6G>AUnknown
MUC5BENSG00000117983ENST00000529681p.R5472Qc.16415G>ASubstitution - Missense
FNIP2ENSG00000052795ENST00000264433p.C278Rc.832T>CSubstitution - Missense
FAM91A1ENSG00000176853ENST00000334705p.?c.1695+1G>AUnknown
ENST00000316490_v65p.S531Fc.1592C>TSubstitution - Missense
SCNN1GENSG00000166828ENST00000300061p.A65Vc.194C>TSubstitution - Missense
MCM3ENSG00000112118ENST00000229854p.V720Ac.2159T>CSubstitution - Missense
RESTENSG00000084093ENST00000309042p.Q924*c.2770C>TSubstitution - Nonsense
PPP1R16BENSG00000101445ENST00000299824p.A129Tc.385G>ASubstitution - Missense
PPP1R16BENSG00000101445ENST00000299824p.R429Wc.1285C>TSubstitution - Missense
C7orf60ENSG00000164603ENST00000297145p.A215Ac.645A>GSubstitution - coding silent
TCOF1ENSG00000070814ENST00000323668p.L169Lc.507G>ASubstitution - coding silent
FUKENSG00000157353ENST00000288078p.H1015fs*19c.3038delCDeletion - Frameshift
FUKENSG00000157353ENST00000378912p.H1021fs*19c.3056delCDeletion - Frameshift
ENST00000316490_v65p.M3868Ic.11604G>ASubstitution - Missense
ENST00000319379p.V4408Vc.13224G>CSubstitution - coding silent
PNRC1ENSG00000146278ENST00000336032p.L21Fc.61C>TSubstitution - Missense
PCDHA6ENSG00000081842ENST00000378126p.A617Vc.1850C>TSubstitution - Missense
MSH2ENSG00000095002ENST00000233146p.E768fs*44c.2303delADeletion - Frameshift
TNIKENSG00000154310ENST00000436636p.I573Tc.1718T>CSubstitution - Missense
ITGA2BENSG00000005961ENST00000262407p.F387Fc.1161C>TSubstitution - coding silent
TFAP2AENSG00000137203ENST00000379604p.N425Nc.1275C>TSubstitution - coding silent
DSTENSG00000151914ENST00000370769p.A2901fs*3c.8700delADeletion - Frameshift
C1QTNF6ENSG00000133466ENST00000397110p.A82Tc.244G>ASubstitution - Missense
NIPSNAP3AENSG00000136783ENST00000374767p.V227Ic.679G>ASubstitution - Missense
ALG12ENSG00000182858ENST00000330817p.R404Qc.1211G>ASubstitution - Missense
CLN3ENSG00000188603ENST00000359984p.V390Mc.1168G>ASubstitution - Missense
FLYWCH1ENSG00000059122ENST00000416288p.?c.1247-2_1511-4del3404Unknown
SLC12A8ENSG00000221955ENST00000393469p.G255fs*46c.764delGDeletion - Frameshift
CUX1ENSG00000257923ENST00000292535p.?c.141+7C>TUnknown
LPIN1ENSG00000134324ENST00000256720p.L737Mc.2209C>ASubstitution - Missense
IGSF10ENSG00000152580ENST00000282466p.T1776Ic.5327C>TSubstitution - Missense
RRADENSG00000166592ENST00000420652p.?c.444+4G>TUnknown
MMP15ENSG00000102996ENST00000219271p.P211Lc.632C>TSubstitution - Missense
HECAENSG00000112406ENST00000367658p.H365Hc.1095C>TSubstitution - coding silent
ZNF460ENSG00000197714ENST00000360338p.R459Qc.1376G>ASubstitution - Missense
SHANK3ENSG00000251322ENST00000262795p.R691Cc.2071C>TSubstitution - Missense
CAMK4ENSG00000152495ENST00000512453p.T290Ac.868A>GSubstitution - Missense
CENPEENSG00000138778ENST00000265148p.V162Vc.486G>TSubstitution - coding silent
CAPN13ENSG00000162949ENST00000295055p.G198Gc.594C>TSubstitution - coding silent
CCDC157ENSG00000187860ENST00000405659p.R285Sc.853C>ASubstitution - Missense
ZNF665ENSG00000197497ENST00000396424p.R301Qc.902G>ASubstitution - Missense
EIF2B4ENSG00000115211ENST00000451130p.P43fs*10c.128delCDeletion - Frameshift
C2orf71ENSG00000179270ENST00000331664p.T529Tc.1587C>ASubstitution - coding silent
SNX17ENSG00000115234ENST00000233575p.R302Hc.905G>ASubstitution - Missense
DGCR14ENSG00000100056ENST00000252137p.A30Dc.89C>ASubstitution - Missense
ENST00000356127p.I10251Ic.30753C>TSubstitution - coding silent
ENST00000356127p.P16182Pc.48546G>ASubstitution - coding silent
ARHGEF26ENSG00000114790ENST00000356448p.R279Cc.835C>TSubstitution - Missense
PTPN13ENSG00000163629ENST00000436978p.R382*c.1144C>TSubstitution - Nonsense
TOM1ENSG00000100284ENST00000449058p.A50Vc.149C>TSubstitution - Missense
EEF1A2ENSG00000101210ENST00000298049p.A176Tc.526G>ASubstitution - Missense
PIK3IP1ENSG00000100100ENST00000215912p.R157Wc.469C>TSubstitution - Missense
CPNE9ENSG00000144550ENST00000383832p.?c.377+1G>AUnknown
GPR128ENSG00000144820ENST00000273352p.K173Rc.518A>GSubstitution - Missense
ZNF808ENSG00000198482ENST00000359798p.E452Kc.1354G>ASubstitution - Missense
ATP8B1ENSG00000081923ENST00000283684p.N560Nc.1680C>TSubstitution - coding silent
DNMT3BENSG00000088305ENST00000201963p.A505Ac.1515G>ASubstitution - coding silent
MYT1LENSG00000186487ENST00000399161p.A79Ac.237C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.I10251Ic.30753C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.?c.17462-6G>AUnknown
ETV1ENSG00000006468ENST00000430479p.P147Sc.439C>TSubstitution - Missense
CALD1ENSG00000122786ENST00000361675p.R710Cc.2128C>TSubstitution - Missense
KIAA1549ENSG00000122778ENST00000422774p.?c.5598+1G>AUnknown
NAPRT1ENSG00000147813ENST00000340490p.T385Tc.1155C>TSubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.G1175Gc.3525G>ASubstitution - coding silent
PWP2ENSG00000241945ENST00000291576p.M640Tc.1919T>CSubstitution - Missense
ZNF423ENSG00000102935ENST00000561648p.C891Yc.2672G>ASubstitution - Missense
SRCIN1ENSG00000017373ENST00000264659p.V239Ic.715G>ASubstitution - Missense
SLC4A4ENSG00000080493ENST00000425175p.?c.1497+6T>CUnknown
ZNF441ENSG00000197044ENST00000357901p.Y531Hc.1591T>CSubstitution - Missense
PER1ENSG00000179094ENST00000317276p.?c.1389-1G>TUnknown
PTPRGENSG00000144724ENST00000474889p.A1383Tc.4147G>ASubstitution - Missense
MMP16ENSG00000156103ENST00000286614p.A574Ac.1722C>TSubstitution - coding silent
CEP112ENSG00000154240ENST00000392769p.P26Pc.78C>ASubstitution - coding silent
CEP112ENSG00000154240ENST00000535342p.P26Pc.78C>ASubstitution - coding silent
BMP7ENSG00000101144ENST00000395863p.?c.612-4G>AUnknown
NM_152423.2p.P130fs*26c.385delCDeletion - Frameshift
SYT3ENSG00000213023ENST00000338916p.R558Hc.1673G>ASubstitution - Missense
ENST00000359032_v68p.Y954Cc.2861A>GSubstitution - Missense
XPO4ENSG00000132953ENST00000255305p.Q473Qc.1419G>ASubstitution - coding silent
LDLRAP1ENSG00000157978ENST00000374338p.H125Yc.373C>TSubstitution - Missense
PKD1L2ENSG00000166473ENST00000525539p.R683Rc.2047A>CSubstitution - coding silent
RALGAPA2ENSG00000188559ENST00000202677p.G678Gc.2034C>TSubstitution - coding silent
CHGAENSG00000100604ENST00000216492p.E109Ec.327G>ASubstitution - coding silent
GAS6ENSG00000183087ENST00000357389p.R306Gc.916A>GSubstitution - Missense
ETNK1ENSG00000139163ENST00000266517p.R232Hc.695G>ASubstitution - Missense
POMGNT1ENSG00000085998ENST00000371984p.A168Vc.503C>TSubstitution - Missense
NM_006575p.?c.1824-2A>GUnknown
ZFC3H1ENSG00000133858ENST00000378743p.S561fs*20c.1681delTDeletion - Frameshift
DHX37ENSG00000150990ENST00000308736p.S730fs*57c.2181_2182insCInsertion - Frameshift
ADORA1ENSG00000163485ENST00000309502p.I48Tc.143T>CSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.A3584Ac.10752C>TSubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.M3532Tc.10595T>CSubstitution - Missense
C1QL3ENSG00000165985ENST00000298943p.A189Tc.565G>ASubstitution - Missense
HEATR4ENSG00000187105ENST00000553558p.H245Hc.735C>TSubstitution - coding silent
PTPRCENSG00000081237ENST00000442510p.A153Tc.457G>ASubstitution - Missense
ENST00000325093p.P43Rc.128C>GSubstitution - Missense
MLXIPENSG00000175727ENST00000377037p.C205Yc.614G>ASubstitution - Missense
YARSENSG00000134684ENST00000373477p.R207Qc.620G>ASubstitution - Missense
ZMYM1ENSG00000197056ENST00000373330p.I624Vc.1870A>GSubstitution - Missense
KCNC1ENSG00000129159ENST00000379472p.A378Tc.1132G>ASubstitution - Missense
SLC22A8ENSG00000149452ENST00000336232p.R72Mc.215G>TSubstitution - Missense
ILKENSG00000166333ENST00000299421p.?c.351+8C>GUnknown
ENST00000393462p.R476Qc.1427G>ASubstitution - Missense
PLD5ENSG00000180287ENST00000536534p.K441Ec.1321A>GSubstitution - Missense
CHRM3ENSG00000133019ENST00000255380p.R569Cc.1705C>TSubstitution - Missense
C12orf4ENSG00000047621ENST00000261250p.M503Lc.1507A>CSubstitution - Missense
SLC38A1ENSG00000111371ENST00000398637p.?c.646+7A>GUnknown
BCCIPENSG00000107949ENST00000278100p.S223Sc.669T>CSubstitution - coding silent
MAPK8IP1ENSG00000121653ENST00000241014p.S421Lc.1262C>TSubstitution - Missense
KIRRELENSG00000183853ENST00000359209p.D578Ac.1733A>CSubstitution - Missense
CLPBENSG00000162129ENST00000294053p.?c.737-2A>GUnknown
KERAENSG00000139330ENST00000266719p.A213Vc.638C>TSubstitution - Missense
FCRL1ENSG00000163534ENST00000368176p.M76Tc.227T>CSubstitution - Missense
SLC15A5ENSG00000188991ENST00000344941p.C163Yc.488G>ASubstitution - Missense
EPHB2ENSG00000133216ENST00000374632p.T58Tc.174G>ASubstitution - coding silent
SEMA7AENSG00000138623ENST00000261918p.E623Dc.1869G>TSubstitution - Missense
KIF11ENSG00000138160ENST00000260731p.?c.2771-8C>TUnknown
NUP160ENSG00000030066ENST00000378460p.K1300Rc.3899A>GSubstitution - Missense
LMNAENSG00000160789ENST00000392353p.M1Ic.3G>ASubstitution - Missense
EBPLENSG00000123179ENST00000242827p.?c.380+3A>GUnknown
CORO1CENSG00000110880ENST00000261401p.T432Mc.1295C>TSubstitution - Missense
BMS1ENSG00000165733ENST00000374518p.D578Nc.1732G>ASubstitution - Missense
INPPL1ENSG00000165458ENST00000298229p.R1156fs*46c.3460delCDeletion - Frameshift
TPTE2ENSG00000132958ENST00000400230p.E51Gc.152A>GSubstitution - Missense
CACNA1EENSG00000198216ENST00000367570p.S1452Sc.4356C>TSubstitution - coding silent
SLC26A4ENSG00000091137ENST00000265715p.N322fs*22c.959delADeletion - Frameshift
EXOC1ENSG00000090989ENST00000346134p.G824fs*2c.2463delADeletion - Frameshift
ENST00000316490p.R2271Wc.6811C>TSubstitution - Missense
NHSENSG00000188158ENST00000380060p.R480Hc.1439G>ASubstitution - Missense
PIK3CAENSG00000121879ENST00000263967p.R88Qc.263G>ASubstitution - Missense
MBTPS2ENSG00000012174ENST00000365779p.I300Ic.900C>TSubstitution - coding silent
SU_SgK223p.A16Vc.47C>TSubstitution - Missense
DDX60LENSG00000181381ENST00000505890p.?c.1678-4G>AUnknown
DIS3L2ENSG00000144535ENST00000360410p.S31Sc.93G>ASubstitution - coding silent
RDH8ENSG00000080511ENST00000591589p.R307Hc.920G>ASubstitution - Missense
CTU2ENSG00000174177ENST00000567949p.E242Kc.724G>ASubstitution - Missense
UBE3BENSG00000151148ENST00000540230p.?c.447+3_447+12delaacaaaaaaaUnknown
MPRIPENSG00000133030ENST00000395811p.P353fs*30c.1052delCDeletion - Frameshift
NFASCENSG00000163531ENST00000367172p.P165fs*12c.489delCDeletion - Frameshift
ADD1ENSG00000087274ENST00000398125p.E458Kc.1372G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.K573Qc.1717A>CSubstitution - Missense
WDR78ENSG00000152763ENST00000371023p.P469Pc.1407C>TSubstitution - coding silent
MB21D2ENSG00000180611ENST00000392452p.C164Cc.492C>TSubstitution - coding silent
SLC27A4ENSG00000167114ENST00000300456p.N279Nc.837C>TSubstitution - coding silent
OR1L3ENSG00000171481ENST00000304820p.S290Cc.868A>TSubstitution - Missense
KIF5CENSG00000168280ENST00000435030p.T872Mc.2615C>TSubstitution - Missense
XRCC1ENSG00000073050ENST00000262887p.E122Kc.364G>ASubstitution - Missense
ZNF226ENSG00000167380ENST00000454662p.R573*c.1717C>TSubstitution - Nonsense
ZFPM2ENSG00000169946ENST00000407775p.T688Ac.2062A>GSubstitution - Missense
SLITRK2ENSG00000185985ENST00000447897p.E725Dc.2175G>TSubstitution - Missense
NM_022835.1p.R1308Wc.3922C>TSubstitution - Missense
HNRNPUL1ENSG00000105323ENST00000392006p.R476Cc.1426C>TSubstitution - Missense
ENST00000532298p.R192Lc.575G>TSubstitution - Missense
WDR62ENSG00000075702ENST00000270301p.S980Sc.2940C>TSubstitution - coding silent
MYO19ENSG00000141140ENST00000431794p.G895fs*28c.2684delGDeletion - Frameshift
GFI1BENSG00000165702ENST00000372122p.P175Hc.524C>ASubstitution - Missense
TRIOENSG00000038382ENST00000344204p.V1083Ic.3247G>ASubstitution - Missense
PCDHGA8ENSG00000253767ENST00000398604p.T495Ac.1483A>GSubstitution - Missense
FOXRED2ENSG00000100350ENST00000397223p.L266Lc.798G>CSubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.H1273Yc.3817C>TSubstitution - Missense
COL7A1ENSG00000114270ENST00000328333p.G2342Sc.7024G>ASubstitution - Missense
ENST00000395734_v68p.R860Hc.2579G>ASubstitution - Missense
FASTKD3ENSG00000124279ENST00000264669p.?c.1884+4C>TUnknown
KLHL4ENSG00000102271ENST00000373119p.R513Qc.1538G>ASubstitution - Missense
ADAMTSL1ENSG00000178031ENST00000380548p.R1125Cc.3373C>TSubstitution - Missense
KIAA0930ENSG00000100364ENST00000251993p.V184Ic.550G>ASubstitution - Missense
CLDN15ENSG00000106404ENST00000308344p.F90Sc.269T>CSubstitution - Missense
SUN1ENSG00000164828ENST00000456758p.?c.1918-9A>GUnknown
SU_SK681p.V643Ac.1928T>CSubstitution - Missense
SLC19A3ENSG00000135917ENST00000258403p.A474Tc.1420G>ASubstitution - Missense
WDR33ENSG00000136709ENST00000322313p.D1090fs*191c.3268delGDeletion - Frameshift
C4orf33ENSG00000151470ENST00000281146p.S104Sc.312G>ASubstitution - coding silent
FBXO5ENSG00000112029ENST00000229758p.N372Nc.1116C>TSubstitution - coding silent
ENST00000543338p.R604fs*80c.1806delCDeletion - Frameshift
ICAM5ENSG00000105376ENST00000221980p.P521Pc.1563G>ASubstitution - coding silent
KIF4AENSG00000090889ENST00000374403p.L874Lc.2620C>TSubstitution - coding silent
GLO1ENSG00000124767ENST00000373365p.?c.467-4A>GUnknown
USP49ENSG00000164663ENST00000373006p.G608Rc.1822G>ASubstitution - Missense
FBXL19ENSG00000099364ENST00000380310p.G362Gc.1086C>TSubstitution - coding silent
ARHGEF4ENSG00000136002ENST00000392953p.L421Lc.1261C>TSubstitution - coding silent
ARHGAP25ENSG00000163219ENST00000409202p.Q65*c.193C>TSubstitution - Nonsense
NM_012294.2p.A19Tc.55G>ASubstitution - Missense
CCDC170ENSG00000120262ENST00000239374p.R521Hc.1562G>ASubstitution - Missense
ZNF804BENSG00000182348ENST00000333190p.N409Kc.1227C>ASubstitution - Missense
ENST00000273083p.E851_D852insEEEc.2538_2539insGAGGAGGAGInsertion - In frame
QRFPRENSG00000186867ENST00000394427p.?c.340+1delgUnknown
ULBP2ENSG00000131015ENST00000367351p.A211Sc.631G>TSubstitution - Missense
LPAENSG00000198670ENST00000316300p.A354Tc.1060G>ASubstitution - Missense
ZNF583ENSG00000198440ENST00000291598p.V137Ac.410T>CSubstitution - Missense
COG1ENSG00000166685ENST00000299886p.S730Nc.2189G>ASubstitution - Missense
CTNNB1ENSG00000168036ENST00000349496p.V406Ic.1216G>ASubstitution - Missense
HPCAL1ENSG00000115756ENST00000381765p.T20Mc.59C>TSubstitution - Missense
FILIP1LENSG00000168386ENST00000331335p.D792Dc.2376T>CSubstitution - coding silent
CDS1ENSG00000163624ENST00000295887p.P307Pc.921A>GSubstitution - coding silent
SNED1ENSG00000162804ENST00000310397p.A812Gc.2435C>GSubstitution - Missense
THAP4ENSG00000176946ENST00000407315p.E200Ec.600G>ASubstitution - coding silent
MGRN1ENSG00000102858ENST00000262370p.G482Gc.1446C>TSubstitution - coding silent
ENST00000356127p.L18430fs*24c.55289delTDeletion - Frameshift
NT5DC2ENSG00000168268ENST00000307076p.D95Gc.284A>GSubstitution - Missense
TNNC1ENSG00000114854ENST00000232975p.?c.317+2T>CUnknown
TRRAPENSG00000196367ENST00000359863p.A875Vc.2624C>TSubstitution - Missense
COL18A1ENSG00000182871ENST00000359759p.R1281Cc.3841C>TSubstitution - Missense
ADRA2BENSG00000222040ENST00000409345p.A117Vc.350C>TSubstitution - Missense
CXCL3ENSG00000163734ENST00000296026p.L86Hc.257T>ASubstitution - Missense
ZNF423ENSG00000102935ENST00000561648p.L826Lc.2478G>ASubstitution - coding silent
ESRP1ENSG00000104413ENST00000433389p.G355fs*33c.1060delGDeletion - Frameshift
PIGOENSG00000165282ENST00000378617p.M1039Tc.3116T>CSubstitution - Missense
ACO1ENSG00000122729ENST00000309951p.R48Wc.142C>TSubstitution - Missense
ENTPD4ENSG00000197217ENST00000358689p.A267Ec.800C>ASubstitution - Missense
NM_001831.2p.R179Rc.537C>TSubstitution - coding silent
ATPAF2ENSG00000171953ENST00000474627p.R227Cc.679C>TSubstitution - Missense
ANKRD27ENSG00000105186ENST00000306065p.P326Pc.978T>CSubstitution - coding silent
KLK2ENSG00000167751ENST00000358049p.G87Cc.259G>TSubstitution - Missense
PRR12ENSG00000126464ENST00000418929p.P276Lc.827C>TSubstitution - Missense
TSHZ2ENSG00000182463ENST00000371497p.R958Cc.2872C>TSubstitution - Missense
INSRENSG00000171105ENST00000302850p.P918Lc.2753C>TSubstitution - Missense
STXBP2ENSG00000076944ENST00000221283p.T304Mc.911C>TSubstitution - Missense
XM_290732.4p.S227Fc.680C>TSubstitution - Missense
ATP12AENSG00000075673ENST00000381946p.L864Lc.2592C>TSubstitution - coding silent
IPO8ENSG00000133704ENST00000256079p.K591Tc.1772A>CSubstitution - Missense
DDX11ENSG00000013573ENST00000542838p.F317Fc.951C>TSubstitution - coding silent
CPNE8ENSG00000139117ENST00000331366p.I69Ic.207T>CSubstitution - coding silent
TRIM9ENSG00000100505ENST00000360392p.S80Sc.240C>ASubstitution - coding silent
AKAP6ENSG00000151320ENST00000280979p.A289Ac.867A>GSubstitution - coding silent
ZCCHC8ENSG00000033030ENST00000336229p.E602Dc.1806G>CSubstitution - Missense
NAV1ENSG00000134369ENST00000367296p.A1156fs*72c.3465delGDeletion - Frameshift
NFASCENSG00000163531ENST00000403080p.P165fs*12c.489delCDeletion - Frameshift
DNAH3ENSG00000158486ENST00000261383p.S2594Fc.7781C>TSubstitution - Missense
UBR4ENSG00000127481ENST00000375254p.G5034Rc.15100G>ASubstitution - Missense
SETD1BENSG00000139718ENST00000542440p.E1147Ec.3441G>ASubstitution - coding silent
P2RX4ENSG00000135124ENST00000337233p.V248Mc.742G>ASubstitution - Missense
PNMA1ENSG00000176903ENST00000316836p.L217Ic.649C>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.L424Sc.1271T>CSubstitution - Missense
ABCC5ENSG00000114770ENST00000334444p.R1041Hc.3122G>ASubstitution - Missense
CCDC181ENSG00000117477ENST00000367805p.?c.1215+5_1215+8delgtaaUnknown
CSMD2ENSG00000121904ENST00000373381p.A143Tc.427G>ASubstitution - Missense
ATE1ENSG00000107669ENST00000224652p.S383Pc.1147T>CSubstitution - Missense
PCNXL2ENSG00000135749ENST00000258229p.L370Lc.1110A>GSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.V1244fs*6c.3725_3726insGInsertion - Frameshift
GNPATENSG00000116906ENST00000366647p.D361Dc.1083C>TSubstitution - coding silent
EGLN1ENSG00000135766ENST00000366641p.K55Kc.165G>ASubstitution - coding silent
ENST00000327087_v68p.P483Pc.1449T>CSubstitution - coding silent
PLEKHG6ENSG00000008323ENST00000011684p.R75Qc.224G>ASubstitution - Missense
ECE1ENSG00000117298ENST00000374893p.R754Cc.2260C>TSubstitution - Missense
SCLT1ENSG00000151466ENST00000281142p.A424fs*6c.1269delADeletion - Frameshift
ESRP1ENSG00000104413ENST00000433389p.N512fs*2c.1528delADeletion - Frameshift
MCM4ENSG00000104738ENST00000523944p.T629fs*18c.1879delADeletion - Frameshift
ACTR6ENSG00000075089ENST00000188312p.F314fs*6c.936delTDeletion - Frameshift
ALX4ENSG00000052850ENST00000329255p.P339fs*12c.1016delCDeletion - Frameshift
ARHGAP25ENSG00000163219ENST00000409202p.A72Vc.215C>TSubstitution - Missense
DYX1C1ENSG00000256061ENST00000321149p.R152Wc.454C>TSubstitution - Missense
ENST00000319379p.R1613Hc.4838G>ASubstitution - Missense
ENST00000265969_v68p.K457fs*20c.1363delADeletion - Frameshift
TP53ENSG00000141510ENST00000269305p.R273Cc.817C>TSubstitution - Missense
GPS2ENSG00000132522ENST00000389167p.R272Hc.815G>ASubstitution - Missense
PHF2ENSG00000197724ENST00000359246p.K492fs*6c.1468delADeletion - Frameshift
GGTLC1ENSG00000149435ENST00000278765p.R65Cc.193C>TSubstitution - Missense
PCDHB10ENSG00000120324ENST00000239446p.G622Gc.1866G>CSubstitution - coding silent
GBA2ENSG00000070610ENST00000545786p.R320Hc.959G>ASubstitution - Missense
USP40ENSG00000085982ENST00000409945p.?c.241-6T>AUnknown
PLB1ENSG00000163803ENST00000329020p.?c.1192-7C>TUnknown
ANKMY1ENSG00000144504ENST00000405523p.V82Vc.246G>ASubstitution - coding silent
KIAA1328ENSG00000150477ENST00000591619p.G28*c.82G>TSubstitution - Nonsense
DNAH17ENSG00000187775ENST00000389840p.S2448Lc.7343C>TSubstitution - Missense
MYO6ENSG00000196586ENST00000369981p.?c.2507+1G>CUnknown
GATAD2AENSG00000167491ENST00000404158p.P588Hc.1763C>ASubstitution - Missense
CUL4BENSG00000158290ENST00000371323p.L112fs*5c.328_329insTInsertion - Frameshift
PAF1ENSG00000006712ENST00000595564p.E101delEc.301_303delGAGDeletion - In frame
AOC1ENSG00000002726ENST00000416793p.R190fs*18c.563delCDeletion - Frameshift
PDE4DIPENSG00000178104ENST00000369351p.Q448Rc.1343A>GSubstitution - Missense
CACNA1EENSG00000198216ENST00000367567p.C499Yc.1496G>ASubstitution - Missense
NFASCENSG00000163531ENST00000367171p.?c.3295+8G>AUnknown
UBR4ENSG00000127481ENST00000375267p.G5034Rc.15100G>ASubstitution - Missense
CR1ENSG00000203710ENST00000400960p.P110Tc.328C>ASubstitution - Missense
COL27A1ENSG00000196739ENST00000356083p.R475Cc.1423C>TSubstitution - Missense
LRRC27ENSG00000148814ENST00000368610p.L135Lc.405C>ASubstitution - coding silent
KCNMA1ENSG00000156113ENST00000372443p.R807Cc.2419C>TSubstitution - Missense
ENST00000319748p.Y176Cc.527A>GSubstitution - Missense
FNIP2ENSG00000052795ENST00000264433p.C952Rc.2854T>CSubstitution - Missense
DVL3ENSG00000161202ENST00000313143p.G562Rc.1684G>ASubstitution - Missense
ARPC5LENSG00000136950ENST00000353214p.S124Nc.371G>ASubstitution - Missense
ZNF618ENSG00000157657ENST00000374126p.R656Hc.1967G>ASubstitution - Missense
OR10H1ENSG00000186723ENST00000334920p.F164fs*22c.491delTDeletion - Frameshift
ANO8ENSG00000074855ENST00000159087p.N974Nc.2922C>TSubstitution - coding silent
LPHN1ENSG00000072071ENST00000340736p.R210Cc.628C>TSubstitution - Missense
C6orf223ENSG00000181577ENST00000336600p.A132_G133insAAc.397_398insCGGCGGInsertion - In frame
LPHN3ENSG00000150471ENST00000512091p.?c.2425-10T>CUnknown
ZSCAN12ENSG00000158691ENST00000361028p.A477Vc.1430C>TSubstitution - Missense
SLITRK4ENSG00000179542ENST00000381779p.L475Sc.1424T>CSubstitution - Missense
ENST00000325845p.R160Lc.479G>TSubstitution - Missense
HAS3ENSG00000103044ENST00000306560p.A146Ac.438C>TSubstitution - coding silent
ABCA13ENSG00000179869ENST00000435803p.L4464Pc.13391T>CSubstitution - Missense
FAM101BENSG00000183688ENST00000329099p.V127Mc.379G>ASubstitution - Missense
MYO19ENSG00000141140ENST00000431794p.G895fs*28c.2684delGDeletion - Frameshift
SLC23A1ENSG00000170482ENST00000353963p.Q452Hc.1356A>TSubstitution - Missense
ATP2B3ENSG00000067842ENST00000349466p.V230Mc.688G>ASubstitution - Missense
SLC36A2ENSG00000186335ENST00000335244p.S275fs*15c.823delTDeletion - Frameshift
RALGDSENSG00000160271ENST00000542690p.P625Lc.1874C>TSubstitution - Missense
HSPB9ENSG00000197723ENST00000355067p.V21Mc.61G>ASubstitution - Missense
CTDP1ENSG00000060069ENST00000299543p.?c.2417+9C>TUnknown
ZNF236ENSG00000130856ENST00000253159p.Q380Qc.1140G>ASubstitution - coding silent
ENOSF1ENSG00000132199ENST00000340116p.V406Lc.1216G>CSubstitution - Missense
OGG1ENSG00000114026ENST00000339511p.F45Lc.135C>ASubstitution - Missense
ABLIM2ENSG00000163995ENST00000447017p.T515Ic.1544C>TSubstitution - Missense
DMDENSG00000198947ENST00000378677p.S349Sc.1047G>ASubstitution - coding silent
NM_021140.1p.N606Nc.1818C>TSubstitution - coding silent
CREBBPENSG00000005339ENST00000262367p.M388Ic.1164G>ASubstitution - Missense
ARHGDIGENSG00000242173ENST00000219409p.?c.253+9G>AUnknown
VPS9D1ENSG00000075399ENST00000389386p.L584Fc.1750C>TSubstitution - Missense
TTC28ENSG00000100154ENST00000397906p.R1459Cc.4375C>TSubstitution - Missense
SLC17A9ENSG00000101194ENST00000370351p.?c.60-9G>AUnknown
NM_003319p.A21874Tc.65620G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.M9929Vc.29785A>GSubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.K1099Ec.3295A>GSubstitution - Missense
PLECENSG00000178209ENST00000345136p.L2729Lc.8187G>ASubstitution - coding silent
ENSG00000182319ENST00000330777p.A916Tc.2746G>ASubstitution - Missense
AFG3L2ENSG00000141385ENST00000269143p.Y658Hc.1972T>CSubstitution - Missense
ASXL1ENSG00000171456ENST00000375687p.P937fs*8c.2807delCDeletion - Frameshift
ENST00000399313p.R1122Wc.3364C>TSubstitution - Missense
ENST00000242365_v65p.?c.5448+1G>AUnknown
ZNF844ENSG00000223547ENST00000439326p.T546Ac.1636A>GSubstitution - Missense
FARSAENSG00000179115ENST00000314606p.R56Wc.166C>TSubstitution - Missense
KCNIP3ENSG00000115041ENST00000295225p.A10Tc.28G>ASubstitution - Missense
C4orf26ENSG00000174792ENST00000435974p.S159fs*>18c.468delADeletion - Frameshift
DSC1ENSG00000134765ENST00000257198p.H573Hc.1719C>TSubstitution - coding silent
ENSG00000105520ENST00000251473p.A210Vc.629C>TSubstitution - Missense
THOC2ENSG00000125676ENST00000245838p.E927fs*14c.2778_2779insAInsertion - Frameshift
MID1ENSG00000101871ENST00000453318p.C187Yc.560G>ASubstitution - Missense
ITGB4ENSG00000132470ENST00000339591p.L1148Lc.3444G>ASubstitution - coding silent
PNKPENSG00000039650ENST00000322344p.?c.1189-10G>AUnknown
KLK2ENSG00000167751ENST00000358049p.P37Pc.111C>ASubstitution - coding silent
CT47B1ENSG00000236446ENST00000371311p.A74Tc.220G>ASubstitution - Missense
TNFRSF19ENSG00000127863ENST00000382258p.P264Lc.791C>TSubstitution - Missense
CUL4AENSG00000139842ENST00000375441p.G106Sc.316G>ASubstitution - Missense
ANKDD1AENSG00000166839ENST00000380230p.D443Nc.1327G>ASubstitution - Missense
DHRS7ENSG00000100612ENST00000216500p.?c.634-12_635>12Unknown
ENSG00000212768ENST00000391457p.P34fs*23c.96delCDeletion - Frameshift
SKA3ENSG00000165480ENST00000400018p.F263fs*32c.789delTDeletion - Frameshift
ARHGEF2ENSG00000116584ENST00000313695p.R104Wc.310C>TSubstitution - Missense
CCDC17ENSG00000159588ENST00000343901p.R145Wc.433C>TSubstitution - Missense
ENST00000316851_v65p.S460fs*7c.1373delCDeletion - Frameshift
GALNT18ENSG00000110328ENST00000227756p.Y120Hc.358T>CSubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.S1683fs*2c.5045_5046insCInsertion - Frameshift
NAV1ENSG00000134369ENST00000367296p.C1508Cc.4524C>TSubstitution - coding silent
PCF11ENSG00000165494ENST00000298281p.S445fs*2c.1327_1328insAInsertion - Frameshift
MMP10ENSG00000166670ENST00000279441p.I63fs*19c.187_188insAInsertion - Frameshift
SMG1ENSG00000157106ENST00000446231p.S150Lc.449C>TSubstitution - Missense
ENST00000309584p.R163Qc.488G>ASubstitution - Missense
ZMPSTE24ENSG00000084073ENST00000372759p.L24Pc.71T>CSubstitution - Missense
VSIG10ENSG00000176834ENST00000359236p.T349Ic.1046C>TSubstitution - Missense
MPGENSG00000103152ENST00000219431p.R182*c.544C>TSubstitution - Nonsense
NAV2ENSG00000166833ENST00000360655p.A2373Ac.7119C>TSubstitution - coding silent
JMJD1CENSG00000171988ENST00000399262p.K1812Tc.5435A>CSubstitution - Missense
SMAD9ENSG00000120693ENST00000379826p.P377Tc.1129C>ASubstitution - Missense
GOLGA8FENSG00000153684ENST00000532622p.V319Ac.956T>CSubstitution - Missense
TMEM180ENSG00000138111ENST00000238936p.R193Cc.577C>TSubstitution - Missense
ASCL1ENSG00000139352ENST00000266744p.S190*c.569C>ASubstitution - Nonsense
CHST11ENSG00000171310ENST00000303694p.E154Ec.462G>ASubstitution - coding silent
SH3D21ENSG00000214193ENST00000453908p.?c.2135+6T>CUnknown
LRRC27ENSG00000148814ENST00000392638p.L197Lc.591C>ASubstitution - coding silent
GLRX3ENSG00000108010ENST00000368644p.R136Cc.406C>TSubstitution - Missense
SUPT16HENSG00000092201ENST00000216297p.C889Cc.2667C>TSubstitution - coding silent
NOLC1ENSG00000166197ENST00000370007p.K280fs*3c.833delADeletion - Frameshift
DCLRE1AENSG00000198924ENST00000369305p.P433Lc.1298C>TSubstitution - Missense
ZNF10ENSG00000256223ENST00000248211p.I309Ic.927T>CSubstitution - coding silent
FMNL3ENSG00000161791ENST00000335154p.C148*c.444T>ASubstitution - Nonsense
BMP1ENSG00000168487ENST00000397816p.R484Hc.1451G>ASubstitution - Missense
DOPEY1ENSG00000083097ENST00000237163p.M1469Vc.4405A>GSubstitution - Missense
CACNA1BENSG00000148408ENST00000277549p.V350Mc.1048G>ASubstitution - Missense
DDX60LENSG00000181381ENST00000505890p.C294Rc.880T>CSubstitution - Missense
TPX2ENSG00000088325ENST00000340513p.D349Gc.1046A>GSubstitution - Missense
KCNIP3ENSG00000115041ENST00000360990p.A10Tc.28G>ASubstitution - Missense
EPB41L3ENSG00000082397ENST00000544123p.R425Hc.1274G>ASubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.R3409Hc.10226G>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000357570p.S1403Sc.4209C>TSubstitution - coding silent
CLN3ENSG00000188603ENST00000354630p.V373Mc.1117G>ASubstitution - Missense
MYT1LENSG00000186487ENST00000428368p.G1009Gc.3027A>TSubstitution - coding silent
C15orf39ENSG00000167173ENST00000567617p.V194fs*132c.575delGDeletion - Frameshift
WNK2ENSG00000165238ENST00000427277p.D1213fs*35c.3631delGDeletion - Frameshift
ACADMENSG00000117054ENST00000420607p.*426fs?c.1277_1278delAADeletion - Frameshift
PLCB4ENSG00000101333ENST00000378473p.G128Gc.384C>TSubstitution - coding silent
SLC17A9ENSG00000101194ENST00000411611p.?c.120-6C>AUnknown
ITGA7ENSG00000135424ENST00000452168p.R449Cc.1345C>TSubstitution - Missense
RTL1ENSG00000254656ENST00000534062p.R991*c.2971C>TSubstitution - Nonsense
GPR20ENSG00000204882ENST00000377741p.L75Lc.225G>ASubstitution - coding silent
ENST00000388903p.H2151Rc.6452A>GSubstitution - Missense
BZW2ENSG00000136261ENST00000258761p.A166Tc.496G>ASubstitution - Missense
PALB2ENSG00000083093ENST00000261584p.E990Kc.2968G>ASubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.T5145Tc.15435G>ASubstitution - coding silent
HECW1ENSG00000002746ENST00000395891p.T80Mc.239C>TSubstitution - Missense
NM_148169.1p.C204Cc.612C>TSubstitution - coding silent
TGFB1ENSG00000105329ENST00000221930p.A221Tc.661G>ASubstitution - Missense
POLMENSG00000122678ENST00000242248p.?c.372+6C>TUnknown
OGDHENSG00000105953ENST00000222673p.R356Cc.1066C>TSubstitution - Missense
PCDHGB1ENSG00000254221ENST00000523390p.A236Vc.707C>TSubstitution - Missense
PTPRKENSG00000152894ENST00000368226p.P70Pc.210C>TSubstitution - coding silent
PCDHA6ENSG00000081842ENST00000529310p.A605Vc.1814C>TSubstitution - Missense
ENST00000289630p.A605Vc.1814C>TSubstitution - Missense
TMCO6ENSG00000113119ENST00000394671p.L378Fc.1134G>CSubstitution - Missense
ATP2B3ENSG00000067842ENST00000263519p.P1145Pc.3435C>TSubstitution - coding silent
CACNA1GENSG00000006283ENST00000359106p.S1085Sc.3255A>GSubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000354484p.D440Dc.1320C>TSubstitution - coding silent
PCDHGB3ENSG00000262209ENST00000576222p.A686Ac.2058G>ASubstitution - coding silent
ENSG00000272333ENST00000222270p.F2677Fc.8031C>TSubstitution - coding silent
BLKENSG00000136573ENST00000259089p.A363Ac.1089G>ASubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.H1273Yc.3817C>TSubstitution - Missense
GRIA2ENSG00000120251ENST00000264426p.?c.1266+3A>GUnknown
PPAN-P2RY11ENSG00000243207ENST00000393796p.Q594*c.1780C>TSubstitution - Nonsense
CDH7ENSG00000081138ENST00000323011p.N256Nc.768C>TSubstitution - coding silent
GJB1ENSG00000169562ENST00000374029p.R75Wc.223C>TSubstitution - Missense
SSBP4ENSG00000130511ENST00000270061p.G229fs*50c.684_685insAInsertion - Frameshift
COL7A1ENSG00000114270ENST00000328333p.?c.2440+2T>CUnknown
ZNF768ENSG00000169957ENST00000380412p.R243Qc.728G>ASubstitution - Missense
PRR14ENSG00000156858ENST00000300835p.S393Pc.1177T>CSubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.G1209Rc.3625G>ASubstitution - Missense
SH2B1ENSG00000178188ENST00000337120p.G441Gc.1323C>GSubstitution - coding silent
TBC1D9ENSG00000109436ENST00000442267p.S997Sc.2991C>TSubstitution - coding silent
BCS1LENSG00000074582ENST00000392109p.H333Hc.999C>TSubstitution - coding silent
TRIP12ENSG00000153827ENST00000283943p.A1876Ac.5628A>GSubstitution - coding silent
SLC12A9ENSG00000146828ENST00000354161p.M485Vc.1453A>GSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.G1718Sc.5152G>ASubstitution - Missense
KLHDC3ENSG00000124702ENST00000326974p.R25Qc.74G>ASubstitution - Missense
CUX1ENSG00000257923ENST00000292535p.R1451fs*34c.4346delCDeletion - Frameshift
DMTF1ENSG00000135164ENST00000394703p.R175Cc.523C>TSubstitution - Missense
HEATR2ENSG00000164818ENST00000297440p.E412Kc.1234G>ASubstitution - Missense
NRN1LENSG00000188038ENST00000339176p.V94Lc.280G>CSubstitution - Missense
ZNF619ENSG00000177873ENST00000447116p.A26Tc.76G>ASubstitution - Missense
ENST00000336674p.L200Lc.600G>ASubstitution - coding silent
PLB1ENSG00000163803ENST00000327757p.?c.2128-7C>TUnknown
PLB1ENSG00000163803ENST00000422425p.?c.2095-7C>TUnknown


COSMIC

4 mutations reported
1 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
RB1ENSG00000139687ENST00000267163p.?c.1961-1G>AUnknown1648218
NM_006218.1p.R88Qc.263G>ASubstitution - Missense19148475
PTENENSG00000171862ENST00000371953p.R130*c.388C>TSubstitution - Nonsense10657903
PTENENSG00000171862ENST00000371953p.R233*c.697C>TSubstitution - Nonsense10657903