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Copy Number Variation
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NCI-H2342 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

4503 mutations reported
1306 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
PSG6ENSG00000170848ENST00000187910p.P173Tc.517C>ASubstitution - Missense
MPDZENSG00000107186ENST00000541718p.G1889Rc.5665G>CSubstitution - Missense
FAM153BENSG00000182230ENST00000253490p.?c.537+6T>CUnknown
C5orf64ENSG00000178722ENST00000505642p.E58*c.172G>TSubstitution - Nonsense
TNXBENSG00000168477ENST00000375247p.G3067Rc.9199G>ASubstitution - Missense
CACNB2ENSG00000165995ENST00000377319p.R37Gc.109C>GSubstitution - Missense
OR51B2ENSG00000184881ENST00000328813p.R88Rc.264G>ASubstitution - coding silent
SCN1AENSG00000144285ENST00000303395p.T1633Sc.4897A>TSubstitution - Missense
UBR3ENSG00000144357ENST00000418381p.R1435Tc.4304G>CSubstitution - Missense
KLHL38ENSG00000175946ENST00000325995p.P106Tc.316C>ASubstitution - Missense
NR4A1ENSG00000123358ENST00000545748p.P252Rc.755C>GSubstitution - Missense
OR8H3ENSG00000181761ENST00000313472p.L226Lc.678G>TSubstitution - coding silent
BRSK2ENSG00000174672ENST00000308230p.G374Cc.1120G>TSubstitution - Missense
ENST00000368577p.Q24Kc.70C>ASubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.C1580Sc.4738T>ASubstitution - Missense
DNAJC6ENSG00000116675ENST00000371069p.A226Vc.677C>TSubstitution - Missense
MCM8ENSG00000125885ENST00000378886p.L468Lc.1404C>TSubstitution - coding silent
CSPG5ENSG00000114646ENST00000383738p.R340Wc.1018A>TSubstitution - Missense
MYT1LENSG00000186487ENST00000428368p.G1009Gc.3027A>TSubstitution - coding silent
PCDHAC1ENSG00000248383ENST00000409700p.V114Fc.340G>TSubstitution - Missense
CCDC47ENSG00000108588ENST00000582252p.V241Lc.721G>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.E229*c.685G>TSubstitution - Nonsense
OPRM1ENSG00000112038ENST00000435918p.R367Lc.1100G>TSubstitution - Missense
KANK4ENSG00000132854ENST00000371153p.V419Vc.1257C>TSubstitution - coding silent
FAM155AENSG00000204442ENST00000375915p.E71fs*157c.209_210insAInsertion - Frameshift
FN1ENSG00000115414ENST00000336916p.?c.547+5G>TUnknown
C20orf26ENSG00000089101ENST00000245957p.A889Sc.2665G>TSubstitution - Missense
RHOXF1ENSG00000101883ENST00000217999p.Q26Ec.76C>GSubstitution - Missense
XPNPEP2ENSG00000122121ENST00000371106p.V594Vc.1782G>TSubstitution - coding silent
TTNENSG00000155657ENST00000360870p.I29Tc.86T>CSubstitution - Missense
TNS1ENSG00000079308ENST00000171887p.Q1161Hc.3483G>TSubstitution - Missense
SPAG16ENSG00000144451ENST00000331683p.Q361Pc.1082A>CSubstitution - Missense
ERCC6L2ENSG00000182150ENST00000407474p.E128Qc.382G>CSubstitution - Missense
CHMP4BENSG00000101421ENST00000217402p.Q81Lc.242A>TSubstitution - Missense
SOGA1ENSG00000149639ENST00000279034p.G518Wc.1552G>TSubstitution - Missense
SOGA1ENSG00000149639ENST00000237536p.G756Wc.2266G>TSubstitution - Missense
RNASEH2AENSG00000104889ENST00000221486p.A218Ac.654G>ASubstitution - coding silent
TAOK1ENSG00000160551ENST00000261716p.Y406Dc.1216T>GSubstitution - Missense
UGT2A1ENSG00000173610ENST00000457664p.G317Vc.950G>TSubstitution - Missense
ODAMENSG00000109205ENST00000396094p.I194Mc.582A>GSubstitution - Missense
PDE9AENSG00000160191ENST00000291539p.E267*c.799G>TSubstitution - Nonsense
SNRNP200ENSG00000144028ENST00000323853p.P1522Sc.4564C>TSubstitution - Missense
SMOC2ENSG00000112562ENST00000354536p.P441Ac.1321C>GSubstitution - Missense
GRM2ENSG00000164082ENST00000395052p.Q150Rc.449A>GSubstitution - Missense
C3orf18ENSG00000088543ENST00000357203p.I49Fc.145A>TSubstitution - Missense
ZNF721ENSG00000182903ENST00000511833p.S707Tc.2120G>CSubstitution - Missense
ENST00000424015p.W214Cc.642G>CSubstitution - Missense
MYH15ENSG00000144821ENST00000273353p.Q1682Ec.5044C>GSubstitution - Missense
TMEM45AENSG00000181458ENST00000323523p.V152Vc.456G>TSubstitution - coding silent
ALS2ENSG00000003393ENST00000264276p.G477Rc.1429G>CSubstitution - Missense
IBSPENSG00000029559ENST00000226284p.A292Ac.876C>ASubstitution - coding silent
WDFY3ENSG00000163625ENST00000295888p.T3129Tc.9387C>TSubstitution - coding silent
ENST00000265148.1p.R967Lc.2900G>TSubstitution - Missense
SLC9B1ENSG00000164037ENST00000296422p.L126Vc.376C>GSubstitution - Missense
ENST00000508324_v68p.N119Kc.357T>ASubstitution - Missense
FBXL2ENSG00000153558ENST00000484457p.G90Ac.269G>CSubstitution - Missense
ABCA10ENSG00000154263ENST00000269081p.P383Lc.1148C>TSubstitution - Missense
REG1BENSG00000172023ENST00000305089p.W111Cc.333G>TSubstitution - Missense
REG1BENSG00000172023ENST00000305089p.W111Lc.332G>TSubstitution - Missense
IL1R2ENSG00000115590ENST00000393414p.Q296Qc.888G>ASubstitution - coding silent
CCDC170ENSG00000120262ENST00000239374p.Q148Ec.442C>GSubstitution - Missense
ENST00000328507p.G254Vc.761G>TSubstitution - Missense
MYO7BENSG00000169994ENST00000428314p.P15Ac.43C>GSubstitution - Missense
CD36ENSG00000135218ENST00000447544p.Q87Rc.260A>GSubstitution - Missense
MUC13ENSG00000173702ENST00000311075p.D413Yc.1237G>TSubstitution - Missense
NM_053025p.T1624Tc.4872C>TSubstitution - coding silent
ZXDCENSG00000070476ENST00000336332p.K465Qc.1393A>CSubstitution - Missense
BRWD3ENSG00000165288ENST00000373275p.R1681Rc.5041A>CSubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.D2915Hc.8743G>CSubstitution - Missense
DACH2ENSG00000126733ENST00000373125p.K165Nc.495G>CSubstitution - Missense
DSELENSG00000171451ENST00000310045p.T31Tc.93T>GSubstitution - coding silent
PDE8BENSG00000113231ENST00000264917p.?c.1366-7C>AUnknown
PIK3R2ENSG00000105647ENST00000222254p.L712Lc.2134C>TSubstitution - coding silent
CSMD3ENSG00000164796ENST00000297405p.T1347Tc.4041C>TSubstitution - coding silent
COL19A1ENSG00000082293ENST00000322773p.G774Cc.2320G>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000402142p.H1658Qc.4974T>ASubstitution - Missense
VPS53ENSG00000141252ENST00000437048p.G158Cc.472G>TSubstitution - Missense
SIENSG00000090402ENST00000264382p.?c.119-2A>CUnknown
WIPI2ENSG00000157954ENST00000288828p.G293Rc.877G>CSubstitution - Missense
SCAND3ENSG00000232040ENST00000452236p.F1000Ic.2998T>ASubstitution - Missense
SNTB2ENSG00000168807ENST00000336278p.G388Cc.1162G>TSubstitution - Missense
CSRNP3ENSG00000178662ENST00000342316p.Q283Ec.847C>GSubstitution - Missense
RALAENSG00000006451ENST00000005257p.D58Yc.172G>TSubstitution - Missense
SMARCB1ENSG00000099956ENST00000263121p.K363Nc.1089G>CSubstitution - Missense
C20orf27ENSG00000101220ENST00000217195p.P21Lc.62C>TSubstitution - Missense
NEBENSG00000183091ENST00000397345p.D2084Nc.6250G>ASubstitution - Missense
NEBENSG00000183091ENST00000409198p.P1556Pc.4668A>GSubstitution - coding silent
POMT1ENSG00000130714ENST00000372228p.L225Lc.673C>TSubstitution - coding silent
ADAMTS16ENSG00000145536ENST00000274181p.P849Pc.2547G>ASubstitution - coding silent
XIRP2ENSG00000163092ENST00000295237p.S3171Sc.9513C>ASubstitution - coding silent
SH2D3CENSG00000095370ENST00000314830p.R373Lc.1118G>TSubstitution - Missense
ENST00000326910p.M74Ic.222G>TSubstitution - Missense
RIC3ENSG00000166405ENST00000419822p.M51Ic.153G>CSubstitution - Missense
OR4C46ENSG00000185926ENST00000328188p.Q136Kc.406C>ASubstitution - Missense
ABLIM1ENSG00000099204ENST00000277895p.S28Ic.83G>TSubstitution - Missense
ENST00000296473_v70p.A244Tc.730G>ASubstitution - Missense
UPF1ENSG00000005007ENST00000599848p.V837Vc.2511G>TSubstitution - coding silent
ANKRD44ENSG00000065413ENST00000337207p.R520Mc.1559G>TSubstitution - Missense
CLEC16AENSG00000038532ENST00000409552p.?c.723-10C>TUnknown
PID1ENSG00000153823ENST00000392055p.D116Nc.346G>ASubstitution - Missense
ATG4BENSG00000168397ENST00000405546p.?c.957+9C>TUnknown
SIGLEC1ENSG00000088827ENST00000419548p.V75Vc.225G>CSubstitution - coding silent
CCL7ENSG00000108688ENST00000200307p.Q34Qc.102G>ASubstitution - coding silent
PROM1ENSG00000007062ENST00000543373p.R341Rc.1023G>ASubstitution - coding silent
ENSG00000268427ENST00000595015p.?c.135+1C>AUnknown
TP53ENSG00000141510ENST00000269305p.Y220Cc.659A>GSubstitution - Missense
MAGI2ENSG00000187391ENST00000535697p.G320Vc.959G>TSubstitution - Missense
DAPK1ENSG00000196730ENST00000469640p.G179Gc.537G>TSubstitution - coding silent
NLGN4XENSG00000146938ENST00000381093p.V607Vc.1821G>TSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000050961p.A1715Dc.5144C>ASubstitution - Missense
CNTNAP3ENSG00000106714ENST00000358144p.Y930Nc.2788T>ASubstitution - Missense
PTOV1ENSG00000104960ENST00000391842p.V245Vc.735C>GSubstitution - coding silent
NM_206943.1p.L926Ic.2776C>ASubstitution - Missense
CDC42BPAENSG00000143776ENST00000366767p.M656Ic.1968G>CSubstitution - Missense
OR52I1ENSG00000232268ENST00000450052p.F126Fc.378C>TSubstitution - coding silent
CHRNA10ENSG00000129749ENST00000250699p.A438Ac.1314C>TSubstitution - coding silent
ENOX1ENSG00000120658ENST00000261488p.A257Pc.769G>CSubstitution - Missense
DDNENSG00000181418ENST00000421952p.E315Dc.945G>CSubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.L3056Lc.9166C>TSubstitution - coding silent
SU_OBSCN.1p.A2683Vc.8048C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.V8656Fc.25966G>TSubstitution - Missense
SLC39A2ENSG00000165794ENST00000298681p.C22Yc.65G>ASubstitution - Missense
OR4N2ENSG00000176294ENST00000315947p.P182Tc.544C>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.T1989Ac.5965A>GSubstitution - Missense
CLECL1ENSG00000184293ENST00000327839p.C61Fc.182G>TSubstitution - Missense
BCL2L2ENSG00000129473ENST00000250405p.G50Vc.149G>TSubstitution - Missense
EFSENSG00000100842ENST00000216733p.G488Gc.1464G>CSubstitution - coding silent
PAOXENSG00000148832ENST00000357296p.V113Lc.337G>TSubstitution - Missense
HSP90B1ENSG00000166598ENST00000299767p.E758Qc.2272G>CSubstitution - Missense
PLD5ENSG00000180287ENST00000366545p.?c.331+1G>TUnknown
INSCENSG00000188487ENST00000379554p.S572Rc.1716C>ASubstitution - Missense
TNNENSG00000120332ENST00000239462p.E633Ec.1899G>ASubstitution - coding silent
ZMYM6ENSG00000163867ENST00000357182p.T295Tc.885A>TSubstitution - coding silent
ANKRD49ENSG00000168876ENST00000302755p.R91Rc.273G>TSubstitution - coding silent
AADACL4ENSG00000204518ENST00000376221p.D183Yc.547G>TSubstitution - Missense
VPS13DENSG00000048707ENST00000358136p.K4173Nc.12519A>TSubstitution - Missense
PALD1ENSG00000107719ENST00000263563p.K651Rc.1952A>GSubstitution - Missense
PRR26ENSG00000180525ENST00000381489p.H124Qc.372C>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.G486Cc.1456G>TSubstitution - Missense
IQGAP1ENSG00000140575ENST00000268182p.S1110Gc.3328A>GSubstitution - Missense
ANKRD26ENSG00000107890ENST00000376070p.?c.485+8G>CUnknown
ITGA8ENSG00000077943ENST00000378076p.A391Ec.1172C>ASubstitution - Missense
MTNR1BENSG00000134640ENST00000257068p.Y308Cc.923A>GSubstitution - Missense
APOA4ENSG00000110244ENST00000357780p.K79Kc.237G>ASubstitution - coding silent
DRD2ENSG00000149295ENST00000362072p.D30Yc.88G>TSubstitution - Missense
DCST2ENSG00000163354ENST00000368424p.?c.269-8G>TUnknown
UBAP2LENSG00000143569ENST00000343815p.?c.2579-1G>AUnknown
ESR2ENSG00000140009ENST00000554572p.?c.652+1G>AUnknown
ZC3H14ENSG00000100722ENST00000251038p.R144Ic.431G>TSubstitution - Missense
TRIM69ENSG00000185880ENST00000329464p.K102Nc.306G>TSubstitution - Missense
SLC45A1ENSG00000162426ENST00000289877p.L121Lc.363C>TSubstitution - coding silent
PEG10ENSG00000242265ENST00000482108p.A246Gc.737C>GSubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.L3764Vc.11290C>GSubstitution - Missense
TRPV5ENSG00000127412ENST00000265310p.S556Ic.1667G>TSubstitution - Missense
KIF13AENSG00000137177ENST00000259711p.D1629Hc.4885G>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.A7315Sc.21943G>TSubstitution - Missense
CTAGE1ENSG00000212710ENST00000391403p.R732Sc.2194C>ASubstitution - Missense
TMEM186ENSG00000184857ENST00000333050p.R125Wc.373C>TSubstitution - Missense
ZNF613ENSG00000176024ENST00000293471p.F325Ic.973T>ASubstitution - Missense
ITSN2ENSG00000198399ENST00000406921p.Q545Ec.1633C>GSubstitution - Missense
CDK15ENSG00000138395ENST00000374598p.R29Gc.85C>GSubstitution - Missense
ANKRD44ENSG00000065413ENST00000424317p.R360Mc.1079G>TSubstitution - Missense
POTEHENSG00000198062ENST00000343518p.K428Nc.1284A>TSubstitution - Missense
MYT1ENSG00000196132ENST00000328439p.?c.397+8G>TUnknown
FBXO7ENSG00000100225ENST00000266087p.T471Tc.1413G>TSubstitution - coding silent
ATP2B2ENSG00000157087ENST00000360273p.E431Qc.1291G>CSubstitution - Missense
EFHBENSG00000163576ENST00000295824p.A516Ac.1548T>CSubstitution - coding silent
FAM150BENSG00000189292ENST00000403610p.D95Nc.283G>ASubstitution - Missense
PPA2ENSG00000138777ENST00000341695p.L231Vc.691C>GSubstitution - Missense
TMEM182ENSG00000170417ENST00000412401p.L219Lc.655C>TSubstitution - coding silent
AKAP4ENSG00000147081ENST00000358526p.L224Lc.672A>GSubstitution - coding silent
ABCG2ENSG00000118777ENST00000237612p.S219Cc.655A>TSubstitution - Missense
FAT4ENSG00000196159ENST00000394329p.L1796Pc.5387T>CSubstitution - Missense
ALMS1ENSG00000116127ENST00000264448p.D2534Yc.7600G>TSubstitution - Missense
SIAH2ENSG00000181788ENST00000312960p.F229Fc.687C>TSubstitution - coding silent
DNAH11ENSG00000105877ENST00000328843p.W1707Cc.5121G>TSubstitution - Missense
NM_001453.1p.G149Gc.447C>GSubstitution - coding silent
GRM1ENSG00000152822ENST00000282753p.V519Vc.1557G>CSubstitution - coding silent
GRM1ENSG00000152822ENST00000282753p.G1054fs*29c.3159_3161AGG>TTComplex - frameshift
PCDH10ENSG00000138650ENST00000264360p.H663Nc.1987C>ASubstitution - Missense
TRIP12ENSG00000153827ENST00000283943p.L1454Lc.4362C>TSubstitution - coding silent
PLCD4ENSG00000115556ENST00000450993p.L314Lc.942T>GSubstitution - coding silent
FAM134AENSG00000144567ENST00000430297p.R231Sc.693G>CSubstitution - Missense
CLIC2ENSG00000155962ENST00000369449p.E157Kc.469G>ASubstitution - Missense
TRIM50ENSG00000146755ENST00000333149p.R242Lc.725G>TSubstitution - Missense
ELNENSG00000049540ENST00000252034p.G12Vc.35G>TSubstitution - Missense
GAP43ENSG00000172020ENST00000393780p.E119Kc.355G>ASubstitution - Missense
BAXENSG00000087088ENST00000345358p.R37_G39delRMGc.106_114delGGGCGAATGDeletion - In frame
TBC1D10BENSG00000169221ENST00000409939p.D271Nc.811G>ASubstitution - Missense
GTF3C1ENSG00000077235ENST00000356183p.V1598Vc.4794G>TSubstitution - coding silent
RNF8ENSG00000112130ENST00000469731p.S254Sc.762C>TSubstitution - coding silent
EXD3ENSG00000187609ENST00000340951p.L417Pc.1250T>CSubstitution - Missense
FAM154AENSG00000155875ENST00000380534p.T103Pc.307A>CSubstitution - Missense
COL9A1ENSG00000112280ENST00000320755p.G220Vc.659G>TSubstitution - Missense
FYNENSG00000010810ENST00000368682p.E94Kc.280G>ASubstitution - Missense
ARHGAP28ENSG00000088756ENST00000314319p.S19Nc.56G>ASubstitution - Missense
SEMA5AENSG00000112902ENST00000382496p.L1055Vc.3163C>GSubstitution - Missense
TBC1D19ENSG00000109680ENST00000264866p.Q186*c.556C>TSubstitution - Nonsense
TNIP2ENSG00000168884ENST00000315423p.Q92Hc.276G>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.N321fs*75c.962delADeletion - Frameshift
CACNA1GENSG00000006283ENST00000354983p.C1574Fc.4721G>TSubstitution - Missense
HSF5ENSG00000176160ENST00000323777p.P531Tc.1591C>ASubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.S914Sc.2742C>TSubstitution - coding silent
ACACAENSG00000132142ENST00000360679p.R1779Ic.5336G>TSubstitution - Missense
ZNF585BENSG00000245680ENST00000532828p.E603Qc.1807G>CSubstitution - Missense
ENST00000316490p.A3274Sc.9820G>TSubstitution - Missense
ENST00000377643p.A294Vc.881C>TSubstitution - Missense
SLC12A5ENSG00000124140ENST00000243964p.A652Ac.1956G>TSubstitution - coding silent
HDAC9ENSG00000048052ENST00000417496p.R178Mc.533G>TSubstitution - Missense
IFIH1ENSG00000115267ENST00000263642p.T563Nc.1688C>ASubstitution - Missense
SIRT2ENSG00000068903ENST00000249396p.L49Lc.147C>TSubstitution - coding silent
TCTE1ENSG00000146221ENST00000371505p.A327Pc.979G>CSubstitution - Missense
GRIK5ENSG00000105737ENST00000301218p.E507Kc.1519G>ASubstitution - Missense
WDR90ENSG00000161996ENST00000293879p.T1734Tc.5202G>ASubstitution - coding silent
NEBENSG00000183091ENST00000397345p.G1446Cc.4336G>TSubstitution - Missense
CRTAC1ENSG00000095713ENST00000370591p.N55Tc.164A>CSubstitution - Missense
NRXN1ENSG00000179915ENST00000402717p.L1172Lc.3516G>TSubstitution - coding silent
SVEP1ENSG00000165124ENST00000302728p.C1228*c.3684T>ASubstitution - Nonsense
POMT1ENSG00000130714ENST00000354713p.L195Lc.583C>TSubstitution - coding silent
UNC5AENSG00000113763ENST00000261961p.V199Ic.595G>ASubstitution - Missense
TSEN2ENSG00000154743ENST00000444864p.R187Lc.560G>TSubstitution - Missense
TDP2ENSG00000111802ENST00000545995p.P378Rc.1133C>GSubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.A2348Tc.7042G>ASubstitution - Missense
OR2A5ENSG00000221836ENST00000408906p.V197Vc.591G>ASubstitution - coding silent
CNKSR2ENSG00000149970ENST00000279451p.N33Ic.98A>TSubstitution - Missense
COL4A5ENSG00000188153ENST00000328300p.A1656Ec.4967C>ASubstitution - Missense
OPRM1ENSG00000112038ENST00000414028p.R367Lc.1100G>TSubstitution - Missense
TAF5LENSG00000135801ENST00000258281p.R217Sc.649C>ASubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.P803Tc.2407C>ASubstitution - Missense
ENST00000377560_v62p.K4003Tc.12008A>CSubstitution - Missense
MINPP1ENSG00000107789ENST00000371996p.S163Lc.488C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.A2629Vc.7886C>TSubstitution - Missense
SU_OBSCN.1p.A2997Ac.8991G>TSubstitution - coding silent
IQGAP3ENSG00000183856ENST00000361170p.G371Cc.1111G>TSubstitution - Missense
ARHGAP32ENSG00000134909ENST00000392657p.D941Nc.2821G>ASubstitution - Missense
NM_182507.1p.E333Kc.997G>ASubstitution - Missense
GGPS1ENSG00000152904ENST00000282841p.P77fs*31c.228_229insTInsertion - Frameshift
SLCO1A2ENSG00000084453ENST00000307378p.S42Sc.126C>ASubstitution - coding silent
DHCR7ENSG00000172893ENST00000407721p.R260Gc.778C>GSubstitution - Missense
BRF1ENSG00000185024ENST00000440513p.?c.1236+7G>TUnknown
ENST00000368577p.Y1010Hc.3028T>CSubstitution - Missense
NR1H4ENSG00000012504ENST00000551379p.T233Tc.699C>TSubstitution - coding silent
COPB1ENSG00000129083ENST00000249923p.E184Qc.550G>CSubstitution - Missense
PTPRUENSG00000060656ENST00000460170p.Q443*c.1327C>TSubstitution - Nonsense
FLGENSG00000143631ENST00000368799p.G3481Vc.10442G>TSubstitution - Missense
CCDC88BENSG00000168071ENST00000359902p.L398Lc.1192C>TSubstitution - coding silent
ARID5BENSG00000150347ENST00000279873p.D513Hc.1537G>CSubstitution - Missense
ANGPTL5ENSG00000187151ENST00000334289p.R92Kc.275G>ASubstitution - Missense
SU_CRIKp.?c.2962-7C>GUnknown
ACSM2AENSG00000183747ENST00000396104p.E232Ec.696A>GSubstitution - coding silent
MPP7ENSG00000150054ENST00000375732p.D244Yc.730G>TSubstitution - Missense
NEBLENSG00000078114ENST00000377122p.?c.1228-5C>TUnknown
LCE1CENSG00000197084ENST00000368768p.C75Cc.225C>TSubstitution - coding silent
OR4F15ENSG00000182854ENST00000332238p.F34Sc.101T>CSubstitution - Missense
EFNA3ENSG00000143590ENST00000368408p.W156*c.467G>ASubstitution - Nonsense
GJA3ENSG00000121743ENST00000241125p.K107Rc.320A>GSubstitution - Missense
C5orf42ENSG00000197603ENST00000274258p.A1995Vc.5984C>TSubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.Q3114Kc.9340C>ASubstitution - Missense
SEL1L2ENSG00000101251ENST00000284951p.Y535Nc.1603T>ASubstitution - Missense
ST6GALNAC3ENSG00000184005ENST00000328299p.P252Rc.755C>GSubstitution - Missense
ZRANB2ENSG00000132485ENST00000254821p.E84Kc.250G>ASubstitution - Missense
CNTNAP4ENSG00000152910ENST00000478060p.W558Rc.1672T>ASubstitution - Missense
TRMT2BENSG00000188917ENST00000545398p.E402Qc.1204G>CSubstitution - Missense
NM_000828.2p.A180Sc.538G>TSubstitution - Missense
ACTRT1ENSG00000123165ENST00000371124p.G81*c.241G>TSubstitution - Nonsense
PTPRZ1ENSG00000106278ENST00000393386p.A1398Tc.4192G>ASubstitution - Missense
EMC10ENSG00000161671ENST00000334976p.R99Rc.297G>TSubstitution - coding silent
WDR81ENSG00000167716ENST00000309182p.S756*c.2267C>GSubstitution - Nonsense
TPM2ENSG00000198467ENST00000360958p.E208*c.622G>TSubstitution - Nonsense
TOPORSENSG00000197579ENST00000360538p.Y381Yc.1143C>TSubstitution - coding silent
FLNCENSG00000128591ENST00000325888p.F106Fc.318C>TSubstitution - coding silent
UNC13BENSG00000198722ENST00000378495p.E767*c.2299G>TSubstitution - Nonsense
DTNAENSG00000134769ENST00000399121p.?c.1482+8C>AUnknown
MATN2ENSG00000132561ENST00000520016p.?c.712+10G>AUnknown
THUMPD3ENSG00000134077ENST00000452837p.G457Ec.1370G>ASubstitution - Missense
NPFFR2ENSG00000056291ENST00000308744p.S519Gc.1555A>GSubstitution - Missense
ZNF423ENSG00000102935ENST00000561648p.Q51Qc.153A>GSubstitution - coding silent
CNTN3ENSG00000113805ENST00000263665p.A542Sc.1624G>TSubstitution - Missense
PRSS1ENSG00000204983ENST00000311737p.E82Qc.244G>CSubstitution - Missense
SKA1ENSG00000154839ENST00000285116p.Q61Hc.183G>TSubstitution - Missense
NOP58ENSG00000055044ENST00000264279p.?c.781-1G>TUnknown
TTNENSG00000155657ENST00000342992p.H11769Rc.35306A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.T31789Sc.95365A>TSubstitution - Missense
ZNF816ENSG00000180257ENST00000357666p.Q612Hc.1836G>CSubstitution - Missense
FERMT1ENSG00000101311ENST00000217289p.Q25Kc.73C>ASubstitution - Missense
DEF8ENSG00000140995ENST00000268676p.L124Lc.372C>TSubstitution - coding silent
C16orf95ENSG00000260456ENST00000567970p.?c.204+5G>TUnknown
SPIRE2ENSG00000204991ENST00000378247p.V257Vc.771G>ASubstitution - coding silent
ENST00000265148.1p.R1256Gc.3766A>GSubstitution - Missense
LTBP1ENSG00000049323ENST00000407925p.L636Lc.1908G>ASubstitution - coding silent
XDHENSG00000158125ENST00000379416p.?c.2631+1G>CUnknown
PITPNBENSG00000180957ENST00000335272p.L238Lc.714C>TSubstitution - coding silent
SFRP1ENSG00000104332ENST00000220772p.G182Gc.546C>ASubstitution - coding silent
RANBP2ENSG00000153201ENST00000283195p.S1449Cc.4346C>GSubstitution - Missense
PARK2ENSG00000185345ENST00000366898p.?c.1285+3G>TUnknown
SYNE1ENSG00000131018ENST00000423061p.G7958Vc.23873G>TSubstitution - Missense
CHRNGENSG00000196811ENST00000389494p.?c.196-6C>AUnknown
MAGI2ENSG00000187391ENST00000354212p.G483Vc.1448G>TSubstitution - Missense
KIAA1324LENSG00000164659ENST00000297222p.K614*c.1840A>TSubstitution - Nonsense
HGFENSG00000019991ENST00000222390p.G675Gc.2025C>ASubstitution - coding silent
IFT122ENSG00000163913ENST00000296266p.W840Lc.2519G>TSubstitution - Missense
PEX13ENSG00000162928ENST00000295030p.E288Kc.862G>ASubstitution - Missense
KALRNENSG00000160145ENST00000360013p.S1138Rc.3414C>GSubstitution - Missense
NUP50ENSG00000093000ENST00000347635p.K3Rc.8A>GSubstitution - Missense
RAB7AENSG00000075785ENST00000265062p.D16Hc.46G>CSubstitution - Missense
PUS10ENSG00000162927ENST00000316752p.R312Sc.936G>TSubstitution - Missense
PRKAG3ENSG00000115592ENST00000233944p.G127Vc.380G>TSubstitution - Missense
EPHB1ENSG00000154928ENST00000398015p.V550Vc.1650C>ASubstitution - coding silent
NPAS1ENSG00000130751ENST00000449844p.?c.805-10C>AUnknown
MUC17ENSG00000169876ENST00000306151p.P1661Hc.4982C>ASubstitution - Missense
GPR174ENSG00000147138ENST00000276077p.S285Lc.854C>TSubstitution - Missense
TRIM42ENSG00000155890ENST00000286349p.H722Dc.2164C>GSubstitution - Missense
EYSENSG00000188107ENST00000370621p.C806Cc.2418T>CSubstitution - coding silent
ICAM4ENSG00000105371ENST00000340992p.L199Lc.597C>TSubstitution - coding silent
SOGA2ENSG00000168502ENST00000359865p.A488Vc.1463C>TSubstitution - Missense
ENST00000335500p.E1197Vc.3590A>TSubstitution - Missense
GPR125ENSG00000152990ENST00000334304p.G881Cc.2641G>TSubstitution - Missense
SLC27A6ENSG00000113396ENST00000262462p.R324Sc.972A>TSubstitution - Missense
ABCA1ENSG00000165029ENST00000423487p.Y49Nc.145T>ASubstitution - Missense
HAAOENSG00000162882ENST00000294973p.N98Ic.293A>TSubstitution - Missense
PCDHGA1ENSG00000204956ENST00000517417p.T86Tc.258C>ASubstitution - coding silent
COL12A1ENSG00000111799ENST00000322507p.K213Ec.637A>GSubstitution - Missense
L3MBTL3ENSG00000198945ENST00000368136p.S601Ic.1802G>TSubstitution - Missense
TUBD1ENSG00000108423ENST00000325752p.V379Mc.1135G>ASubstitution - Missense
MICALL2ENSG00000164877ENST00000297508p.G254Ac.761G>CSubstitution - Missense
GABRA1ENSG00000022355ENST00000393943p.N444Kc.1332C>ASubstitution - Missense
OR2F1ENSG00000213215ENST00000392899p.H244Lc.731A>TSubstitution - Missense
DPYSENSG00000147647ENST00000351513p.R514Gc.1540A>GSubstitution - Missense
COBLENSG00000106078ENST00000265136p.S1111Cc.3332C>GSubstitution - Missense
NCOA5ENSG00000124160ENST00000290231p.V198fs*5c.591delCDeletion - Frameshift
FAPENSG00000078098ENST00000188790p.A633Ac.1899C>ASubstitution - coding silent
ANLNENSG00000011426ENST00000265748p.D894Hc.2680G>CSubstitution - Missense
ENST00000316490_v65p.E639*c.1915G>TSubstitution - Nonsense
NEBENSG00000183091ENST00000397345p.P1556Pc.4668A>GSubstitution - coding silent
NEBENSG00000183091ENST00000427231p.D2084Nc.6250G>ASubstitution - Missense
NM_133170.2p.T1368Tc.4104G>TSubstitution - coding silent
ABCF3ENSG00000161204ENST00000429586p.D247Vc.740A>TSubstitution - Missense
DUSP22ENSG00000112679ENST00000419235p.P118Pc.352C>ASubstitution - coding silent
TRAF1ENSG00000056558ENST00000373887p.?c.229-1G>TUnknown
XIRP2ENSG00000163092ENST00000295237p.H2720Hc.8160T>CSubstitution - coding silent
HHLA1ENSG00000132297ENST00000414222p.?c.449-9G>TUnknown
FAM129BENSG00000136830ENST00000373312p.T536Tc.1608G>ASubstitution - coding silent
TCTN1ENSG00000204852ENST00000397655p.S149Cc.446C>GSubstitution - Missense
ADD2ENSG00000075340ENST00000430656p.G15Rc.43G>ASubstitution - Missense
KIAA1549LENSG00000110427ENST00000265654p.E906Kc.2716G>ASubstitution - Missense
NRIP2ENSG00000053702ENST00000337508p.L250Lc.750C>GSubstitution - coding silent
CCDC63ENSG00000173093ENST00000308208p.R179Lc.536G>TSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366766p.M737Ic.2211G>CSubstitution - Missense
DLG5ENSG00000151208ENST00000372391p.D1658Vc.4973A>TSubstitution - Missense
ENST00000349637p.W3228Rc.9682T>ASubstitution - Missense
KRT5ENSG00000186081ENST00000252242p.S554Ic.1661G>TSubstitution - Missense
MRPL48ENSG00000175581ENST00000310614p.E154Kc.460G>ASubstitution - Missense
TTC13ENSG00000143643ENST00000366661p.R222Lc.665G>TSubstitution - Missense
TMEM109ENSG00000110108ENST00000227525p.R221Lc.662G>TSubstitution - Missense
NPAS4ENSG00000174576ENST00000311034p.Y251Dc.751T>GSubstitution - Missense
OR6S1ENSG00000181803ENST00000320704p.A25Sc.73G>TSubstitution - Missense
CDC42BPBENSG00000198752ENST00000361246p.K96Nc.288G>CSubstitution - Missense
BCL2L2ENSG00000129473ENST00000250405p.G50Rc.148G>ASubstitution - Missense
MUC19ENSG00000205592ENST00000425730p.Y335Yc.1005T>CSubstitution - coding silent
AKAP3ENSG00000111254ENST00000545990p.E65Kc.193G>ASubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.S256Yc.767C>ASubstitution - Missense
AHCTF1ENSG00000153207ENST00000391829p.R254Kc.761G>ASubstitution - Missense
A2ML1ENSG00000166535ENST00000299698p.S1237Cc.3710C>GSubstitution - Missense
ATP10AENSG00000206190ENST00000356865p.C233Yc.698G>ASubstitution - Missense
ADAMTS4ENSG00000158859ENST00000367996p.H365Nc.1093C>ASubstitution - Missense
TNRENSG00000116147ENST00000367674p.A1264Sc.3790G>TSubstitution - Missense
COL16A1ENSG00000084636ENST00000373672p.*1605Sc.4814G>CNonstop extension
LRRC43ENSG00000158113ENST00000425921p.V318Ac.953T>CSubstitution - Missense
TARS2ENSG00000143374ENST00000369064p.R183Rc.549G>ASubstitution - coding silent
PALD1ENSG00000107719ENST00000263563p.P823Pc.2469C>TSubstitution - coding silent
PCDH15ENSG00000150275ENST00000414778p.G698Sc.2092G>ASubstitution - Missense
KIAA1549LENSG00000110427ENST00000321505p.S1542Ic.4625G>TSubstitution - Missense
RBP3ENSG00000107618ENST00000224600p.T508Tc.1524C>ASubstitution - coding silent
NR5A2ENSG00000116833ENST00000367362p.V241Ec.722T>ASubstitution - Missense
OGFOD2ENSG00000111325ENST00000397389p.L223Lc.669C>GSubstitution - coding silent
ENST00000298047_v61p.S4567Rc.13701C>ASubstitution - Missense
EP400ENSG00000183495ENST00000389561p.Q610fs*36c.1829delADeletion - Frameshift
CACNA1EENSG00000198216ENST00000367570p.G2251Sc.6751G>ASubstitution - Missense
C1orf220ENSG00000213057ENST00000319387p.Q46Qc.138A>GSubstitution - coding silent
C1orf162ENSG00000143110ENST00000343534p.S26Rc.76A>CSubstitution - Missense
UBAP2LENSG00000143569ENST00000361546p.G860Vc.2579G>TSubstitution - Missense
CASC1ENSG00000118307ENST00000320267p.C535Cc.1605C>TSubstitution - coding silent
CASC1ENSG00000118307ENST00000354189p.C599Cc.1797C>TSubstitution - coding silent
IPO8ENSG00000133704ENST00000256079p.C664*c.1992C>ASubstitution - Nonsense
ENST00000375089p.I126Ic.378C>TSubstitution - coding silent
SLC27A2ENSG00000140284ENST00000267842p.V350Vc.1050C>GSubstitution - coding silent
SRGAP2ENSG00000163486ENST00000414007p.K105Nc.315G>TSubstitution - Missense
ZNF609ENSG00000180357ENST00000416172p.Q254*c.760C>TSubstitution - Nonsense
EPS15ENSG00000085832ENST00000371733p.R24Tc.71G>CSubstitution - Missense
ZWILCHENSG00000174442ENST00000307897p.K520Nc.1560G>CSubstitution - Missense
SPEF2ENSG00000152582ENST00000356031p.G976*c.2926G>TSubstitution - Nonsense
OR2T3ENSG00000196539ENST00000359594p.S260Sc.780C>TSubstitution - coding silent
TTNENSG00000155657ENST00000360870p.L2935Lc.8805C>ASubstitution - coding silent
CWC22ENSG00000163510ENST00000410053p.G817Vc.2450G>TSubstitution - Missense
ENST00000356127p.?c.19367-2A>TUnknown
VWDEENSG00000146530ENST00000275358p.P602Lc.1805C>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.T1439Tc.4317C>ASubstitution - coding silent
ENST00000301415p.S831Nc.2492G>ASubstitution - Missense
KLK15ENSG00000174562ENST00000326856p.G221Cc.661G>TSubstitution - Missense
ZNF492ENSG00000229676ENST00000456783p.T108Tc.324C>GSubstitution - coding silent
USP39ENSG00000168883ENST00000409470p.L499Lc.1497C>GSubstitution - coding silent
MIDNENSG00000167470ENST00000300952p.L64Lc.192C>ASubstitution - coding silent
SLC6A2ENSG00000103546ENST00000219833p.?c.644+3A>GUnknown
ZNF2ENSG00000163067ENST00000340539p.P313Tc.937C>ASubstitution - Missense
MST1ENSG00000173531ENST00000449682p.?c.242+3G>AUnknown
MBOAT1ENSG00000172197ENST00000324607p.I176Ic.528C>TSubstitution - coding silent
HIST1H3AENSG00000198366ENST00000357647p.R3Cc.7C>TSubstitution - Missense
RASGEF1BENSG00000138670ENST00000264400p.Q408Lc.1223A>TSubstitution - Missense
GPR124ENSG00000020181ENST00000412232p.S379Sc.1137C>ASubstitution - coding silent
CTNNA2ENSG00000066032ENST00000466387p.Q773Kc.2317C>ASubstitution - Missense
CPA3ENSG00000163751ENST00000296046p.R273Lc.818G>TSubstitution - Missense
P2RY1ENSG00000169860ENST00000305097p.F215Fc.645C>TSubstitution - coding silent
PIGQENSG00000007541ENST00000321878p.R562Cc.1684C>TSubstitution - Missense
DPP10ENSG00000175497ENST00000410059p.T435Tc.1305T>GSubstitution - coding silent
NM_173495.1p.D558Yc.1672G>TSubstitution - Missense
AKAP12ENSG00000131016ENST00000402676p.A87Ac.261C>TSubstitution - coding silent
PARK2ENSG00000185345ENST00000366892p.V36Fc.106G>TSubstitution - Missense
ENST00000398240p.G440Cc.1318G>TSubstitution - Missense
THSD7BENSG00000144229ENST00000413152p.?c.3861+4G>AUnknown
VAPAENSG00000101558ENST00000340541p.N105Dc.313A>GSubstitution - Missense
NM_001371.1p.L472Lc.1416G>TSubstitution - coding silent
RIMS1ENSG00000079841ENST00000521978p.S1662Tc.4984T>ASubstitution - Missense
TRDNENSG00000186439ENST00000398178p.?c.853+10G>TUnknown
CSMD3ENSG00000164796ENST00000343508p.V2752Lc.8254G>TSubstitution - Missense
MSANTD3ENSG00000066697ENST00000374885p.W159Cc.477G>TSubstitution - Missense
BAI3ENSG00000135298ENST00000370598p.M1435Kc.4304T>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.G290Vc.869G>TSubstitution - Missense
IRF2ENSG00000168310ENST00000393593p.T62Ac.184A>GSubstitution - Missense
TRIML1ENSG00000184108ENST00000332517p.M228Tc.683T>CSubstitution - Missense
ENST00000326605p.E152Qc.454G>CSubstitution - Missense
KIRREL2ENSG00000126259ENST00000262625p.R535Pc.1604G>CSubstitution - Missense
NRXN1ENSG00000179915ENST00000342183p.L145Lc.435G>TSubstitution - coding silent
ENST00000331340_v65p.P420Lc.1259C>TSubstitution - Missense
XKR6ENSG00000171044ENST00000416569p.K586Ec.1756A>GSubstitution - Missense
PCDHA4ENSG00000204967ENST00000356878p.A682Sc.2044G>TSubstitution - Missense
NM_001007157.1p.D787Yc.2359G>TSubstitution - Missense
C7orf34ENSG00000165131ENST00000409607p.E77Vc.230A>TSubstitution - Missense
ENST00000316490_v65p.T1570Tc.4710C>TSubstitution - coding silent
KIAA1211ENSG00000109265ENST00000264229p.V558Vc.1674G>ASubstitution - coding silent
SPANXN3ENSG00000189252ENST00000370503p.P104Qc.311C>ASubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.V4161Ec.12482T>ASubstitution - Missense
MED29ENSG00000063322ENST00000315588p.P168Sc.502C>TSubstitution - Missense
NWD1ENSG00000188039ENST00000339803p.L1139Lc.3417C>GSubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.?c.1585-5G>CUnknown
HYDINENSG00000157423ENST00000288168p.E656*c.1966G>TSubstitution - Nonsense
GALNT13ENSG00000144278ENST00000409237p.R286Mc.857G>TSubstitution - Missense
CFBENSG00000243649ENST00000425368p.?c.1409-9C>TUnknown
ADAMTS16ENSG00000145536ENST00000274181p.Y1193Nc.3577T>ASubstitution - Missense
TNFRSF21ENSG00000146072ENST00000296861p.E104Ec.312G>ASubstitution - coding silent
CEACAM6ENSG00000086548ENST00000199764p.L108Lc.324G>TSubstitution - coding silent
TRIM49BENSG00000182053ENST00000332682p.E222*c.664G>TSubstitution - Nonsense
PMLENSG00000140464ENST00000395132p.E363Kc.1087G>ASubstitution - Missense
SGIP1ENSG00000118473ENST00000237247p.P275Qc.824C>ASubstitution - Missense
RPA2ENSG00000117748ENST00000373909p.P184Pc.552C>TSubstitution - coding silent
OR14K1ENSG00000153230ENST00000283225p.T5Tc.15A>TSubstitution - coding silent
UBAP2LENSG00000143569ENST00000271877p.?c.2612-1G>AUnknown
CACNA1EENSG00000198216ENST00000367567p.G1858Sc.5572G>ASubstitution - Missense
APOL1ENSG00000100342ENST00000440669p.T42fs*36c.121delGDeletion - Frameshift
KIR2DL3ENSG00000243772ENST00000434419p.P241Hc.722C>ASubstitution - Missense
MYH14ENSG00000105357ENST00000440075p.S872Nc.2615G>ASubstitution - Missense
ENST00000586406p.I47Ic.141C>TSubstitution - coding silent
ICAM4ENSG00000105371ENST00000380770p.S225Lc.674C>TSubstitution - Missense
PCDH11XENSG00000102290ENST00000361724p.H572Dc.1714C>GSubstitution - Missense
SMC2ENSG00000136824ENST00000303219p.Q718Hc.2154G>TSubstitution - Missense
ATP1B4ENSG00000101892ENST00000218008p.D278Hc.832G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.S1200Cc.3599C>GSubstitution - Missense
BHLHE23ENSG00000125533ENST00000370346p.P128Sc.382C>TSubstitution - Missense
HOXB7ENSG00000260027ENST00000239165p.A7Ac.21G>CSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.S1134Cc.3401C>GSubstitution - Missense
MMP19ENSG00000123342ENST00000322569p.P320Pc.960G>TSubstitution - coding silent
IGSF9ENSG00000085552ENST00000361509p.P335fs*30c.1004delCDeletion - Frameshift
PAHENSG00000171759ENST00000553106p.L136Vc.406C>GSubstitution - Missense
RNF6ENSG00000127870ENST00000346166p.L586Vc.1756C>GSubstitution - Missense
TJP1ENSG00000104067ENST00000346128p.?c.1257-1G>TUnknown
TEKT2ENSG00000092850ENST00000207457p.S191fs*12c.569_570insCCInsertion - Frameshift
POGKENSG00000143157ENST00000367875p.M360Ic.1080G>CSubstitution - Missense
ENST00000298815_v65p.K384Mc.1151A>TSubstitution - Missense
BFARENSG00000103429ENST00000261658p.?c.1161-3C>AUnknown
YLPM1ENSG00000119596ENST00000325680p.R1126Qc.3377G>ASubstitution - Missense
VSX2ENSG00000119614ENST00000261980p.R200Lc.599G>TSubstitution - Missense
TOR1AIP2ENSG00000169905ENST00000367612p.I32Fc.94A>TSubstitution - Missense
SMG1ENSG00000157106ENST00000446231p.L1568Lc.4702C>TSubstitution - coding silent
UNC13CENSG00000137766ENST00000260323p.S1836Nc.5507G>ASubstitution - Missense
ENST00000298047_v61p.P308Tc.922C>ASubstitution - Missense
PRAMEF1ENSG00000116721ENST00000332296p.?c.867-4A>TUnknown
DDX11ENSG00000013573ENST00000407793p.?c.481-6G>TUnknown
PLEKHA6ENSG00000143850ENST00000272203p.S51Sc.153C>TSubstitution - coding silent
DTWD1ENSG00000104047ENST00000403028p.Q26Kc.76C>ASubstitution - Missense
CHRM5ENSG00000184984ENST00000383263p.S291Rc.873C>ASubstitution - Missense
NRDE2ENSG00000119720ENST00000354366p.K1042Rc.3125A>GSubstitution - Missense
CTAGE5ENSG00000150527ENST00000280083p.P308Lc.923C>TSubstitution - Missense
FRMD6ENSG00000139926ENST00000395718p.L305Fc.913C>TSubstitution - Missense
RPS6KA1ENSG00000117676ENST00000374168p.G610Vc.1829G>TSubstitution - Missense
SLC44A5ENSG00000137968ENST00000370855p.Y443Cc.1328A>GSubstitution - Missense
FAM69AENSG00000154511ENST00000370310p.D123Nc.367G>ASubstitution - Missense
ENST00000356127p.I2986Vc.8956A>GSubstitution - Missense
ZNF266ENSG00000174652ENST00000361151p.R259Kc.776G>ASubstitution - Missense
STXBP2ENSG00000076944ENST00000221283p.?c.429+5G>TUnknown
ENST00000429478p.C496Fc.1487G>TSubstitution - Missense
TNS1ENSG00000079308ENST00000446903p.A250Ac.750G>CSubstitution - coding silent
SSFA2ENSG00000138434ENST00000320370p.S845Fc.2534C>TSubstitution - Missense
SALL4ENSG00000101115ENST00000217086p.R321Gc.961C>GSubstitution - Missense
CPT1CENSG00000169169ENST00000323446p.Q673Kc.2017C>ASubstitution - Missense
SND1ENSG00000197157ENST00000354725p.D808Yc.2422G>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.E1487Dc.4461G>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.L1868Rc.5603T>GSubstitution - Missense
ZNF439ENSG00000171291ENST00000304030p.R79Wc.235A>TSubstitution - Missense
DDX42ENSG00000198231ENST00000578681p.E222Vc.665A>TSubstitution - Missense
ZNF491ENSG00000177599ENST00000323169p.I56Vc.166A>GSubstitution - Missense
ERN1ENSG00000178607ENST00000433197p.?c.2401+7G>TUnknown
MAPK7ENSG00000166484ENST00000308406p.E292Gc.875A>GSubstitution - Missense
MED13ENSG00000108510ENST00000397786p.A266Ac.798A>TSubstitution - coding silent
MARCH10ENSG00000173838ENST00000311269p.Q375_P377delQDPc.1123_1131delCAAGACCCCDeletion - In frame
ENST00000325084p.D1729Hc.5185G>CSubstitution - Missense
FASNENSG00000169710ENST00000306749p.R101Qc.302G>ASubstitution - Missense
DTNAENSG00000134769ENST00000399097p.?c.606+8C>AUnknown
DSG1ENSG00000134760ENST00000257192p.D468Dc.1404T>CSubstitution - coding silent
MSANTD1ENSG00000188981ENST00000438480p.?c.321-9T>CUnknown
GABRG1ENSG00000163285ENST00000295452p.R435Pc.1304G>CSubstitution - Missense
SOWAHBENSG00000186212ENST00000334306p.L737Sc.2210T>CSubstitution - Missense
MGAMENSG00000257335ENST00000475668p.?c.4770+8A>CUnknown
MTUS1ENSG00000129422ENST00000262102p.P602Ac.1804C>GSubstitution - Missense
ASB4ENSG00000005981ENST00000428113p.P331Tc.991C>ASubstitution - Missense
HIST1H2ADENSG00000196866ENST00000341023p.T77Tc.231C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.R11617Kc.34850G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.G14471Vc.43412G>TSubstitution - Missense
NOP56ENSG00000101361ENST00000415272p.?c.642-10G>CUnknown
ATP2B2ENSG00000157087ENST00000383800p.E386Qc.1156G>CSubstitution - Missense
ENST00000398617p.L159Lc.477T>CSubstitution - coding silent
GAREMLENSG00000157833ENST00000401533p.E46Dc.138G>CSubstitution - Missense
SF3B1ENSG00000115524ENST00000335508p.G1253Cc.3757G>TSubstitution - Missense
FILIP1LENSG00000168386ENST00000354552p.Q132Rc.395A>GSubstitution - Missense
MTMR14ENSG00000163719ENST00000296003p.L594Lc.1782G>TSubstitution - coding silent
TPTEENSG00000166157ENST00000361285p.*552Yc.1656A>CNonstop extension
PRPF6ENSG00000101161ENST00000266079p.S90*c.269C>GSubstitution - Nonsense
KIF4AENSG00000090889ENST00000374403p.Q583*c.1747C>TSubstitution - Nonsense
NM_138737.1p.P1084Lc.3251C>TSubstitution - Missense
NM_000052.2p.K60*c.178A>TSubstitution - Nonsense
THSD7BENSG00000144229ENST00000272643p.E1229Kc.3685G>ASubstitution - Missense
ADCY2ENSG00000078295ENST00000537121p.V204Lc.610G>TSubstitution - Missense
SNTB1ENSG00000172164ENST00000395601p.E51Kc.151G>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.C2933Cc.8799T>CSubstitution - coding silent
SMPD2ENSG00000135587ENST00000258052p.A396Pc.1186G>CSubstitution - Missense
FYNENSG00000010810ENST00000368682p.E433*c.1297G>TSubstitution - Nonsense
GRIK2ENSG00000164418ENST00000369138p.M737Ic.2211G>TSubstitution - Missense
BZRAP1ENSG00000005379ENST00000355701p.T1568Tc.4704G>ASubstitution - coding silent
HSD17B4ENSG00000133835ENST00000256216p.?c.714+7G>TUnknown
OLFM1ENSG00000130558ENST00000252854p.Q98Hc.294G>CSubstitution - Missense
UTP18ENSG00000011260ENST00000225298p.K318Kc.954G>ASubstitution - coding silent
PEX5LENSG00000114757ENST00000467460p.Q303Qc.909G>ASubstitution - coding silent
PLD1ENSG00000075651ENST00000351298p.T673Tc.2019G>CSubstitution - coding silent
PCDHGA12ENSG00000253159ENST00000252085p.H177Yc.529C>TSubstitution - Missense
ENST00000316490_v65p.A3322Sc.9964G>TSubstitution - Missense
PCDHA7ENSG00000204963ENST00000525929p.E311*c.931G>TSubstitution - Nonsense
RENBPENSG00000102032ENST00000393700p.V165Fc.493G>TSubstitution - Missense
HLA-GENSG00000204632ENST00000360323p.L11Lc.33G>TSubstitution - coding silent
METENSG00000105976ENST00000318493p.E168Kc.502G>ASubstitution - Missense
TFECENSG00000105967ENST00000265440p.?c.383-3C>AUnknown
NM_133170.2p.V769Vc.2307G>TSubstitution - coding silent
KMT2CENSG00000055609ENST00000262189p.P840Ac.2518C>GSubstitution - Missense
PAK4ENSG00000130669ENST00000358301p.R318Hc.953G>ASubstitution - Missense
TATENSG00000198650ENST00000355962p.V83Mc.247G>ASubstitution - Missense
NEBENSG00000183091ENST00000409198p.D2084Nc.6250G>ASubstitution - Missense
SQLEENSG00000104549ENST00000265896p.E323Qc.967G>CSubstitution - Missense
CERCAMENSG00000167123ENST00000372842p.N344Ic.1031A>TSubstitution - Missense
CARSENSG00000110619ENST00000401769p.K117Nc.351G>CSubstitution - Missense
ZEB1ENSG00000148516ENST00000446923p.Q451Ec.1351C>GSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.A1954Ac.5862A>CSubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.Y4731Yc.14193T>CSubstitution - coding silent
DNAJC6ENSG00000116675ENST00000371069p.S801Sc.2403C>TSubstitution - coding silent
CSMD2ENSG00000121904ENST00000373388p.?c.1007+10G>CUnknown
UBAP2LENSG00000143569ENST00000271877p.?c.2612-2A>TUnknown
MAP4ENSG00000047849ENST00000420772p.E521Qc.1561G>CSubstitution - Missense
UBR3ENSG00000144357ENST00000392631p.R256Tc.767G>CSubstitution - Missense
OTOAENSG00000155719ENST00000286149p.S173Sc.519C>ASubstitution - coding silent
SNX29ENSG00000048471ENST00000323433p.R298Qc.893G>ASubstitution - Missense
TTLL3ENSG00000214021ENST00000426895p.Q607Kc.1819C>ASubstitution - Missense
KIF6ENSG00000164627ENST00000538893p.A741Sc.2221G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.G7958Wc.23872G>TSubstitution - Missense
MTSS1ENSG00000170873ENST00000378017p.L175*c.524T>ASubstitution - Nonsense
MAP2K4ENSG00000065559ENST00000353533p.K359*c.1075A>TSubstitution - Nonsense
TTNENSG00000155657ENST00000359218p.L22348Lc.67044G>ASubstitution - coding silent
SGIP1ENSG00000118473ENST00000371037p.P271Qc.812C>ASubstitution - Missense
HOXB6ENSG00000108511ENST00000225648p.E117Kc.349G>ASubstitution - Missense
SSH1ENSG00000084112ENST00000326495p.E798Qc.2392G>CSubstitution - Missense
DDOSTENSG00000244038ENST00000375048p.?c.508-1G>TUnknown
UBE4BENSG00000130939ENST00000253251p.D615Yc.1843G>TSubstitution - Missense
ZNF485ENSG00000198298ENST00000374437p.G367Vc.1100G>TSubstitution - Missense
ITIH5ENSG00000123243ENST00000397145p.T405Tc.1215G>TSubstitution - coding silent
NRG3ENSG00000185737ENST00000372142p.I21Ic.63C>ASubstitution - coding silent
CACNA2D4ENSG00000151062ENST00000382722p.D118Hc.352G>CSubstitution - Missense
ZNF268ENSG00000090612ENST00000228289p.G245Ec.734G>ASubstitution - Missense
PRDM10ENSG00000170325ENST00000360871p.C357Cc.1071C>TSubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.W3249Rc.9745T>ASubstitution - Missense
BAG5ENSG00000166170ENST00000337322p.L175Lc.525G>ASubstitution - coding silent
ENST00000268134p.P1745Sc.5233C>TSubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.G4110Wc.12328G>TSubstitution - Missense
RBMXL2ENSG00000170748ENST00000306904p.S337Wc.1010C>GSubstitution - Missense
MYBPC1ENSG00000196091ENST00000361466p.?c.2033-3C>TUnknown
ARHGEF10LENSG00000074964ENST00000361221p.E386*c.1156G>TSubstitution - Nonsense
CACNA1CENSG00000151067ENST00000399617p.D2148Dc.6444C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000347598p.Q766Lc.2297A>TSubstitution - Missense
RIC3ENSG00000166405ENST00000343202p.M51Ic.153G>CSubstitution - Missense
PRSS23ENSG00000150687ENST00000280258p.R323Wc.967A>TSubstitution - Missense
GPHNENSG00000171723ENST00000478722p.?c.295-1G>TUnknown
SERPINA10ENSG00000140093ENST00000393096p.L352Lc.1056T>ASubstitution - coding silent
BAZ1AENSG00000198604ENST00000382422p.L218Lc.654A>GSubstitution - coding silent
SMCPENSG00000163206ENST00000368765p.S87Pc.259T>CSubstitution - Missense
CLK2ENSG00000176444ENST00000361168p.D230Hc.688G>CSubstitution - Missense
PCID2ENSG00000126226ENST00000246505p.K388Nc.1164A>CSubstitution - Missense
RPAP1ENSG00000103932ENST00000304330p.W1300Sc.3899G>CSubstitution - Missense
CHST5ENSG00000135702ENST00000336257p.V220Vc.660G>TSubstitution - coding silent
SLC1A3ENSG00000079215ENST00000265113p.G311Ac.932G>CSubstitution - Missense
RBFOX1ENSG00000078328ENST00000355637p.R204Sc.610C>ASubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.W2439Cc.7317G>TSubstitution - Missense
TLN2ENSG00000171914ENST00000306829p.L1405Lc.4215G>CSubstitution - coding silent
ANKRD13CENSG00000118454ENST00000370944p.D295Nc.883G>ASubstitution - Missense
PCSK2ENSG00000125851ENST00000262545p.?c.1101+1G>TUnknown
TMEFF2ENSG00000144339ENST00000272771p.I334Ic.1002C>ASubstitution - coding silent
ENST00000356127p.P7407Pc.22221T>CSubstitution - coding silent
FBXW10ENSG00000171931ENST00000395667p.E30Qc.88G>CSubstitution - Missense
WDR81ENSG00000167716ENST00000437219p.S604*c.1811C>GSubstitution - Nonsense
WDR81ENSG00000167716ENST00000409644p.S1807*c.5420C>GSubstitution - Nonsense
GRIA3ENSG00000125675ENST00000264357p.A180Sc.538G>TSubstitution - Missense
GNASENSG00000087460ENST00000371100p.E350Gc.1049A>GSubstitution - Missense
RUNX1T1ENSG00000079102ENST00000360348p.S537Rc.1611C>ASubstitution - Missense
SFMBT1ENSG00000163935ENST00000394750p.A404Ac.1212T>GSubstitution - coding silent
TRPM3ENSG00000083067ENST00000377110p.T1553Tc.4659A>CSubstitution - coding silent
MATN2ENSG00000132561ENST00000520016p.?c.712+10G>AUnknown
PIGSENSG00000087111ENST00000308360p.V538Vc.1614C>GSubstitution - coding silent
ADRA2BENSG00000222040ENST00000409345p.G212Vc.635G>TSubstitution - Missense
THOC1ENSG00000079134ENST00000261600p.N448Ic.1343A>TSubstitution - Missense
PDE4AENSG00000065989ENST00000352831p.A173Vc.518C>TSubstitution - Missense
RHOAENSG00000067560ENST00000418115p.R70Kc.209G>ASubstitution - Missense
ENST00000399313p.E193Dc.579A>TSubstitution - Missense
EYA1ENSG00000104313ENST00000388742p.K460Qc.1378A>CSubstitution - Missense
MAFAENSG00000182759ENST00000333480p.R275Wc.823C>TSubstitution - Missense
SGCZENSG00000185053ENST00000382080p.D79fs*16c.233_234insTInsertion - Frameshift
TRRAPENSG00000196367ENST00000359863p.?c.5313+3G>AUnknown
NM_003319p.R5120Kc.15359G>ASubstitution - Missense
ENST00000356127p.A13687Sc.41059G>TSubstitution - Missense
KIR2DL1ENSG00000125498ENST00000336077p.P241Hc.722C>ASubstitution - Missense
KIR3DL1ENSG00000167633ENST00000391728p.W363Rc.1087T>CSubstitution - Missense
MYH8ENSG00000133020ENST00000403437p.K1654Nc.4962G>TSubstitution - Missense
SPIRE2ENSG00000204991ENST00000378247p.Q124Ec.370C>GSubstitution - Missense
VPS35ENSG00000069329ENST00000299138p.H311Pc.932A>CSubstitution - Missense
NM_014422.1p.A110Sc.328G>TSubstitution - Missense
PLCB1ENSG00000182621ENST00000338037p.G301Rc.901G>CSubstitution - Missense
RFPL4AENSG00000223638ENST00000434937p.D156Nc.466G>ASubstitution - Missense
MMRN1ENSG00000138722ENST00000394980p.T543Tc.1629T>ASubstitution - coding silent
ANK1ENSG00000029534ENST00000347528p.V36fs*4c.106_107insGInsertion - Frameshift
PRKDCENSG00000253729ENST00000314191p.M939Vc.2815A>GSubstitution - Missense
ADH6ENSG00000172955ENST00000394899p.L67Fc.201G>TSubstitution - Missense
TRAK1ENSG00000182606ENST00000396175p.P429Pc.1287G>TSubstitution - coding silent
RBM3ENSG00000102317ENST00000376759p.R90Tc.269G>CSubstitution - Missense
GPR114ENSG00000159618ENST00000340339p.S259Fc.776C>TSubstitution - Missense
CD36ENSG00000135218ENST00000435819p.Q87Rc.260A>GSubstitution - Missense
OPN1LWENSG00000102076ENST00000369951p.P307Qc.920C>ASubstitution - Missense
DPP10ENSG00000175497ENST00000410059p.S771Ic.2312G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.Q29Pc.86A>CSubstitution - Missense
SPTBN1ENSG00000115306ENST00000356805p.R156Cc.466C>TSubstitution - Missense
ATP2C1ENSG00000017260ENST00000359644p.G438Cc.1312G>TSubstitution - Missense
TREML1ENSG00000161911ENST00000373127p.A109Pc.325G>CSubstitution - Missense
DSTENSG00000151914ENST00000244364p.T614Tc.1842C>GSubstitution - coding silent
PPP1R26ENSG00000196422ENST00000356818p.K962Nc.2886A>TSubstitution - Missense
PHIPENSG00000146247ENST00000275034p.A1372Sc.4114G>TSubstitution - Missense
NLGN1ENSG00000169760ENST00000457714p.P760Ac.2278C>GSubstitution - Missense
PRSS16ENSG00000112812ENST00000230582p.E252Qc.754G>CSubstitution - Missense
ZSCAN16ENSG00000196812ENST00000340487p.Q167Lc.500A>TSubstitution - Missense
CYP2A6ENSG00000255974ENST00000301141p.L296Lc.888G>ASubstitution - coding silent
HYDINENSG00000157423ENST00000538248p.E666*c.1996G>TSubstitution - Nonsense
EYA2ENSG00000064655ENST00000327619p.F290Lc.870T>ASubstitution - Missense
SKIV2LENSG00000204351ENST00000375394p.A1022Tc.3064G>ASubstitution - Missense
DOCK2ENSG00000134516ENST00000256935p.Y1640Nc.4918T>ASubstitution - Missense
CACNB2ENSG00000165995ENST00000377315p.R44Gc.130C>GSubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.L689Lc.2067G>TSubstitution - coding silent
PTGS1ENSG00000095303ENST00000362012p.?c.353-6C>TUnknown
XIRP2ENSG00000163092ENST00000295237p.N3361Ic.10082A>TSubstitution - Missense
SCN1AENSG00000144285ENST00000375405p.F1811Lc.5433C>ASubstitution - Missense
ABCC5ENSG00000114770ENST00000334444p.H731Hc.2193T>CSubstitution - coding silent
OR5D13ENSG00000198877ENST00000361760p.K130Ec.388A>GSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.A2519Pc.7555G>CSubstitution - Missense
MIA3ENSG00000154305ENST00000340535p.R693Rc.2079A>GSubstitution - coding silent
NF1ENSG00000196712ENST00000444181p.E485Kc.1453G>ASubstitution - Missense
C17orf66ENSG00000172653ENST00000589015p.M13Ic.39G>ASubstitution - Missense
SLC13A3ENSG00000158296ENST00000372121p.R110Rc.330G>TSubstitution - coding silent
PCLOENSG00000186472ENST00000423517p.P2252fs*23c.6755delCDeletion - Frameshift
PCDH11XENSG00000102290ENST00000298274p.H572Dc.1714C>GSubstitution - Missense
HERC5ENSG00000138646ENST00000264350p.R334Sc.1000C>ASubstitution - Missense
HERC5ENSG00000138646ENST00000264350p.D402Yc.1204G>TSubstitution - Missense
SRPK2ENSG00000135250ENST00000393651p.R91Rc.273G>TSubstitution - coding silent
COL13A1ENSG00000197467ENST00000398972p.K667Nc.2001A>CSubstitution - Missense
PODXLENSG00000128567ENST00000541194p.V109Lc.325G>TSubstitution - Missense
TAF5LENSG00000135801ENST00000366675p.R217Sc.649C>ASubstitution - Missense
OR56B4ENSG00000180919ENST00000316529p.I132Ic.396C>TSubstitution - coding silent
DCDC1ENSG00000170959ENST00000452803p.S14Yc.41C>ASubstitution - Missense
CYLC1ENSG00000183035ENST00000329312p.P631Hc.1892C>ASubstitution - Missense
RFX4ENSG00000111783ENST00000392842p.S32Rc.96C>ASubstitution - Missense
CR1ENSG00000203710ENST00000367049p.S1549Ic.4646G>TSubstitution - Missense
BMS1ENSG00000165733ENST00000374518p.H69Rc.206A>GSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.A3226Ac.9678G>TSubstitution - coding silent
CNTN5ENSG00000149972ENST00000528682p.?c.2620+3C>AUnknown
AMBRA1ENSG00000110497ENST00000314845p.A1110Sc.3328G>TSubstitution - Missense
FCRL3ENSG00000160856ENST00000368184p.T335Tc.1005C>ASubstitution - coding silent
PLCZ1ENSG00000139151ENST00000266505p.T539Tc.1617A>TSubstitution - coding silent
CCDC38ENSG00000165972ENST00000344280p.T61Nc.182C>ASubstitution - Missense
PRKD1ENSG00000184304ENST00000331968p.S768Yc.2303C>ASubstitution - Missense
OR52N1ENSG00000181001ENST00000317078p.F148Fc.444C>TSubstitution - coding silent
OR4K5ENSG00000176281ENST00000315915p.T279Tc.837C>ASubstitution - coding silent
ACANENSG00000157766ENST00000439576p.P1745Sc.5233C>TSubstitution - Missense
CHST15ENSG00000182022ENST00000346248p.?c.1496-1G>TUnknown
RYR2ENSG00000198626ENST00000366574p.Y4725Yc.14175T>CSubstitution - coding silent
FMN2ENSG00000155816ENST00000319653p.M1013Ic.3039G>TSubstitution - Missense
ANKS1BENSG00000185046ENST00000549493p.E496Kc.1486G>ASubstitution - Missense
HEPHL1ENSG00000181333ENST00000315765p.A747Dc.2240C>ASubstitution - Missense
KAZNENSG00000189337ENST00000376030p.T31Kc.92C>ASubstitution - Missense
ADAMTSL4ENSG00000143382ENST00000369038p.S467Fc.1400C>TSubstitution - Missense
SF1ENSG00000168066ENST00000377390p.L203Lc.609T>GSubstitution - coding silent
COL13A1ENSG00000197467ENST00000398978p.K681Nc.2043A>CSubstitution - Missense
DDR2ENSG00000162733ENST00000367922p.R124Lc.371G>TSubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.P949Rc.2846C>GSubstitution - Missense
CCDC24ENSG00000159214ENST00000372318p.L187Mc.559C>ASubstitution - Missense
LRRC43ENSG00000158113ENST00000339777p.V503Ac.1508T>CSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.Q797Ec.2389C>GSubstitution - Missense
WDR47ENSG00000085433ENST00000369965p.V652Ec.1955T>ASubstitution - Missense
ITGA8ENSG00000077943ENST00000378076p.P795Tc.2383C>ASubstitution - Missense
OR2L5ENSG00000197454ENST00000355281p.M1Ic.3G>TSubstitution - Missense
DSCAML1ENSG00000177103ENST00000321322p.S1139Nc.3416G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.V610Vc.1830G>TSubstitution - coding silent
BRINP3ENSG00000162670ENST00000367462p.L546Lc.1638G>TSubstitution - coding silent
LAMTOR5ENSG00000134248ENST00000256644p.P76Pc.228G>CSubstitution - coding silent
FAT3ENSG00000165323ENST00000409404p.D767Gc.2300A>GSubstitution - Missense
PRAMEF1ENSG00000116721ENST00000332296p.?c.867-4A>TUnknown
PAPPA2ENSG00000116183ENST00000367661p.R284Rc.850C>ASubstitution - coding silent
C14orf105ENSG00000100557ENST00000216445p.L50Rc.149T>GSubstitution - Missense
FGGYENSG00000172456ENST00000303721p.F437Fc.1311C>TSubstitution - coding silent
ESPNENSG00000187017ENST00000377828p.T668Mc.2003C>TSubstitution - Missense
PTGER4ENSG00000171522ENST00000302472p.V320Vc.960G>ASubstitution - coding silent
APOBENSG00000084674ENST00000233242p.T3854Tc.11562C>ASubstitution - coding silent
NT5C1BENSG00000185013ENST00000359846p.L419Fc.1257G>CSubstitution - Missense
C20orf26ENSG00000089101ENST00000245957p.Y840fs*5c.2518_2519delTADeletion - Frameshift
CNTNAP4ENSG00000152910ENST00000307431p.W630Rc.1888T>ASubstitution - Missense
COL4A6ENSG00000197565ENST00000394872p.P1420Lc.4259C>TSubstitution - Missense
TTNENSG00000155657ENST00000360870p.I2986Vc.8956A>GSubstitution - Missense
GNASENSG00000087460ENST00000371100p.M703Ic.2109G>ASubstitution - Missense
KLK3ENSG00000142515ENST00000360617p.G156Cc.466G>TSubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.?c.6611-7C>TUnknown
FERMT1ENSG00000101311ENST00000217289p.P386Lc.1157C>TSubstitution - Missense
HELZENSG00000198265ENST00000358691p.V768Vc.2304G>TSubstitution - coding silent
PPM1DENSG00000170836ENST00000305921p.Q344Qc.1032A>GSubstitution - coding silent
MYO18AENSG00000196535ENST00000527372p.G44Vc.131G>TSubstitution - Missense
LPLENSG00000175445ENST00000311322p.E254Kc.760G>ASubstitution - Missense
CARM1ENSG00000142453ENST00000327064p.?c.347-10C>TUnknown
CDH2ENSG00000170558ENST00000269141p.N249Yc.745A>TSubstitution - Missense
LRRC16AENSG00000079691ENST00000329474p.E193Dc.579A>TSubstitution - Missense
ERMARDENSG00000130023ENST00000366773p.?c.961-6C>TUnknown
ENST00000341755p.?c.321-9T>CUnknown
HNF1BENSG00000108753ENST00000225893p.R177Lc.530G>TSubstitution - Missense
HTR1FENSG00000179097ENST00000319595p.L100Lc.300G>CSubstitution - coding silent
FRG1BENSG00000149531ENST00000278882p.H151fs*5c.451_453CAC>AAComplex - frameshift
MCM3APENSG00000160294ENST00000397708p.E1065Qc.3193G>CSubstitution - Missense
ENSG00000173213ENST00000308911p.R324Gc.970A>GSubstitution - Missense
EFHBENSG00000163576ENST00000295824p.A516Ac.1548T>CSubstitution - coding silent
COL8A1ENSG00000144810ENST00000273342p.V657Vc.1971C>ASubstitution - coding silent
PITPNBENSG00000180957ENST00000335272p.L238Lc.714C>TSubstitution - coding silent
PITPNBENSG00000180957ENST00000455418p.L240Lc.720C>TSubstitution - coding silent
PLCB1ENSG00000182621ENST00000378641p.G301Rc.901G>CSubstitution - Missense
OGFRENSG00000060491ENST00000290291p.L424Lc.1272C>GSubstitution - coding silent
INPP5JENSG00000185133ENST00000331075p.A477Sc.1429G>TSubstitution - Missense
ZNF160ENSG00000170949ENST00000429604p.G589Ec.1766G>ASubstitution - Missense
MED14ENSG00000180182ENST00000324817p.Q854*c.2560C>TSubstitution - Nonsense
SULT1C2ENSG00000198203ENST00000251481p.P23Pc.69T>CSubstitution - coding silent
TGFBRAP1ENSG00000135966ENST00000258449p.K681Nc.2043G>TSubstitution - Missense
RANBP2ENSG00000153201ENST00000283195p.E216Gc.647A>GSubstitution - Missense
GPR173ENSG00000184194ENST00000332582p.C116Yc.347G>ASubstitution - Missense
TEKT1ENSG00000167858ENST00000338694p.D58Hc.172G>CSubstitution - Missense
ENST00000330166p.G3039Ac.9116G>CSubstitution - Missense
CDH9ENSG00000113100ENST00000231021p.G782Gc.2346G>CSubstitution - coding silent
C3orf58ENSG00000181744ENST00000315691p.R202Lc.605G>TSubstitution - Missense
SUN1ENSG00000164828ENST00000401592p.F317Fc.951C>TSubstitution - coding silent
UTRNENSG00000152818ENST00000367545p.E3264*c.9790G>TSubstitution - Nonsense
MGLLENSG00000074416ENST00000398104p.G81*c.241G>TSubstitution - Nonsense
PTMAENSG00000187514ENST00000409115p.V24Vc.72G>TSubstitution - coding silent
ZG16BENSG00000162078ENST00000382280p.G207Cc.619G>TSubstitution - Missense
NM_012116.2p.G467Vc.1400G>TSubstitution - Missense
POLR2J3ENSG00000168255ENST00000379357p.V174Vc.522G>TSubstitution - coding silent
PMS2ENSG00000122512ENST00000265849p.S358Fc.1073C>TSubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.L472Lc.1416G>TSubstitution - coding silent
NR1I2ENSG00000144852ENST00000337940p.M95Tc.284T>CSubstitution - Missense
TEAD3ENSG00000007866ENST00000338863p.T328Sc.983C>GSubstitution - Missense
IL2RBENSG00000100385ENST00000216223p.W48Cc.144G>CSubstitution - Missense
PRKAR2BENSG00000005249ENST00000265717p.R346Lc.1037G>TSubstitution - Missense
FSCN1ENSG00000075618ENST00000382361p.T401Mc.1202C>TSubstitution - Missense
ATP11CENSG00000101974ENST00000327569p.?c.1018-1G>TUnknown
CCNFENSG00000162063ENST00000397066p.L116Lc.348G>TSubstitution - coding silent
NBASENSG00000151779ENST00000281513p.A931Ac.2793C>TSubstitution - coding silent
OPA1ENSG00000198836ENST00000361510p.E207*c.619G>TSubstitution - Nonsense
RMND5BENSG00000145916ENST00000313386p.E266Kc.796G>ASubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.A865Tc.2593G>ASubstitution - Missense
NOTCH4ENSG00000204301ENST00000375023p.D663Yc.1987G>TSubstitution - Missense
C10orf128ENSG00000204161ENST00000453436p.L30Lc.90C>ASubstitution - coding silent
MPP7ENSG00000150054ENST00000445954p.D119Yc.355G>TSubstitution - Missense
LILRA2ENSG00000239998ENST00000251377p.F180Fc.540C>TSubstitution - coding silent
LRP2ENSG00000081479ENST00000263816p.A973Sc.2917G>TSubstitution - Missense
ASTN2ENSG00000148219ENST00000313400p.Q855Ec.2563C>GSubstitution - Missense
C1orf87ENSG00000162598ENST00000395552p.T55Sc.163A>TSubstitution - Missense
UBAP2LENSG00000143569ENST00000271877p.G871Vc.2612G>TSubstitution - Missense
ZMYND10ENSG00000004838ENST00000360165p.V134Vc.402C>GSubstitution - coding silent
NLRP7ENSG00000167634ENST00000446217p.R330Gc.988C>GSubstitution - Missense
SIX5ENSG00000177045ENST00000317578p.P622Pc.1866A>CSubstitution - coding silent
CTAGE5ENSG00000150527ENST00000341749p.P296Lc.887C>TSubstitution - Missense
PTPRTENSG00000196090ENST00000373184p.A1268Tc.3802G>ASubstitution - Missense
MYT1ENSG00000196132ENST00000360149p.?c.397+8G>TUnknown
MUC12ENSG00000205277ENST00000379442p.F1527fs*18c.4577delCDeletion - Frameshift
TRPM6ENSG00000119121ENST00000449912p.R1526Gc.4576C>GSubstitution - Missense
ATP11CENSG00000101974ENST00000370543p.?c.1018-1G>TUnknown
PHF14ENSG00000106443ENST00000403050p.D787Yc.2359G>TSubstitution - Missense
KIF6ENSG00000164627ENST00000541946p.A248Sc.742G>TSubstitution - Missense
ELNENSG00000049540ENST00000358929p.G12Vc.35G>TSubstitution - Missense
FOXB2ENSG00000204612ENST00000376708p.S29Lc.86C>TSubstitution - Missense
CAMSAP1ENSG00000130559ENST00000409386p.A1268Ac.3804G>TSubstitution - coding silent
PTPRDENSG00000153707ENST00000397617p.M130Ic.390G>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.I1201Mc.3603C>GSubstitution - Missense
C9orf173ENSG00000197768ENST00000388931p.L332Lc.996C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.S1134Cc.3401C>GSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.A1663Vc.4988C>TSubstitution - Missense
NM_015057.1p.Q949Ec.2845C>GSubstitution - Missense
ENSG00000180574ENST00000322446p.A463Ac.1389A>TSubstitution - coding silent
GH1ENSG00000259384ENST00000323322p.V206Mc.616G>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000370096p.G1264Gc.3792G>ASubstitution - coding silent
TBC1D4ENSG00000136111ENST00000377636p.S690Ic.2069G>TSubstitution - Missense
LDB3ENSG00000122367ENST00000429277p.R165Rc.493C>ASubstitution - coding silent
ATAD1ENSG00000138138ENST00000328142p.R304Qc.911G>ASubstitution - Missense
ZNF10ENSG00000256223ENST00000248211p.G203Vc.608G>TSubstitution - Missense
SU_OBSCN.1p.E6058Kc.18172G>ASubstitution - Missense
FAM90A1ENSG00000171847ENST00000307435p.A327fs*83c.979delGDeletion - Frameshift
IRAK3ENSG00000090376ENST00000261233p.I299Vc.895A>GSubstitution - Missense
NM_014903.3p.A2250Ac.6750A>CSubstitution - coding silent
MKI67ENSG00000148773ENST00000368654p.A1201Tc.3601G>ASubstitution - Missense
GGPS1ENSG00000152904ENST00000282841p.S223*c.668C>GSubstitution - Nonsense
GGPS1ENSG00000152904ENST00000282841p.R261Cc.781C>TSubstitution - Missense
NOVA1ENSG00000139910ENST00000539517p.V223Gc.668T>GSubstitution - Missense
HAPLN3ENSG00000140511ENST00000359595p.M1Ic.3G>TSubstitution - Missense
ADRBK1ENSG00000173020ENST00000308595p.F85Cc.254T>GSubstitution - Missense
SNRPNENSG00000128739ENST00000400100p.L42Lc.126C>TSubstitution - coding silent
OCA2ENSG00000104044ENST00000382996p.N533Kc.1599C>ASubstitution - Missense
CCDC27ENSG00000162592ENST00000294600p.S100Rc.300C>ASubstitution - Missense
PIWIL4ENSG00000134627ENST00000299001p.?c.514-5C>TUnknown
RTN3ENSG00000133318ENST00000341307p.G29Vc.86G>TSubstitution - Missense
ENST00000309024p.E632Kc.1894G>ASubstitution - Missense
C14orf1ENSG00000133935ENST00000256319p.L111Lc.333G>CSubstitution - coding silent
CTPS1ENSG00000171793ENST00000372621p.S231*c.692C>GSubstitution - Nonsense
HECTD3ENSG00000126107ENST00000372172p.D550Hc.1648G>CSubstitution - Missense
XM_052561.7p.F528Fc.1584C>TSubstitution - coding silent
PDXDC1ENSG00000179889ENST00000396410p.L277Fc.831G>TSubstitution - Missense
ENST00000339740p.W606Rc.1816T>ASubstitution - Missense
OR2T6ENSG00000198104ENST00000355728p.R139Rc.417G>CSubstitution - coding silent
ITGA4ENSG00000115232ENST00000397033p.Y235Yc.705C>TSubstitution - coding silent
ENST00000356127p.G1119Dc.3356G>ASubstitution - Missense
GLSENSG00000115419ENST00000320717p.L182Lc.546A>GSubstitution - coding silent
CDC27ENSG00000004897ENST00000066544p.V677Vc.2031A>GSubstitution - coding silent
COL4A5ENSG00000188153ENST00000361603p.A1650Ec.4949C>ASubstitution - Missense
UBALD2ENSG00000185262ENST00000327490p.A102Sc.304G>TSubstitution - Missense
COL4A6ENSG00000197565ENST00000334504p.P1419Lc.4256C>TSubstitution - Missense
PTBP1ENSG00000011304ENST00000356948p.V232Mc.694G>ASubstitution - Missense
NM_003685.1p.I268Mc.804C>GSubstitution - Missense
GLDCENSG00000178445ENST00000321612p.D311Hc.931G>CSubstitution - Missense
ENST00000389520_v65p.E529Gc.1586A>GSubstitution - Missense
ENSG00000113811ENST00000495461p.?c.19+8G>CUnknown
DNAJA1ENSG00000086061ENST00000330899p.E268*c.802G>TSubstitution - Nonsense
UBAP2ENSG00000137073ENST00000379238p.I45Nc.134T>ASubstitution - Missense
EQTNENSG00000120160ENST00000380032p.P173Ac.517C>GSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.T1439Tc.4317C>ASubstitution - coding silent
ABCG1ENSG00000160179ENST00000361802p.L4Vc.10C>GSubstitution - Missense
RAP1GAP2ENSG00000132359ENST00000254695p.T172Tc.516C>TSubstitution - coding silent
SCN4AENSG00000007314ENST00000435607p.L721Mc.2161C>ASubstitution - Missense
MED1ENSG00000125686ENST00000300651p.G1201Vc.3602G>TSubstitution - Missense
TMPRSS15ENSG00000154646ENST00000284885p.?c.2166-5T>GUnknown
KIAA1239ENSG00000174145ENST00000309447p.L1197Lc.3591T>CSubstitution - coding silent
UGT2B4ENSG00000156096ENST00000305107p.V28Lc.82G>TSubstitution - Missense
UGT2B28ENSG00000135226ENST00000335568p.N67Nc.201T>CSubstitution - coding silent
PREX2ENSG00000046889ENST00000288368p.G431Gc.1293C>GSubstitution - coding silent
C6orf195ENSG00000164385ENST00000296847p.C18Cc.54C>TSubstitution - coding silent
PRKRAENSG00000180228ENST00000325748p.V63Lc.187G>CSubstitution - Missense
C20orf112ENSG00000197183ENST00000201961p.?c.356-4C>TUnknown
HNF4GENSG00000164749ENST00000396423p.E117Dc.351A>CSubstitution - Missense
KCNB2ENSG00000182674ENST00000523207p.D456Nc.1366G>ASubstitution - Missense
ANKRD44ENSG00000065413ENST00000409153p.R545Mc.1634G>TSubstitution - Missense
HOXD4ENSG00000170166ENST00000306324p.?c.433+5G>TUnknown
FBXO7ENSG00000100225ENST00000382058p.A69Tc.205G>ASubstitution - Missense
FBXO7ENSG00000100225ENST00000266087p.T471Tc.1413G>TSubstitution - coding silent
BRPF1ENSG00000156983ENST00000383829p.M90Ic.270G>CSubstitution - Missense
FAM150BENSG00000189292ENST00000403610p.D95Nc.283G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.R3900Hc.11699G>ASubstitution - Missense
ENSG00000083842ENST00000196548p.G263Vc.788G>TSubstitution - Missense
MAN2A1ENSG00000112893ENST00000261483p.?c.836-2A>TUnknown
HOXA5ENSG00000106004ENST00000222726p.A198Sc.592G>TSubstitution - Missense
BOD1L1ENSG00000038219ENST00000040738p.D2987Yc.8959G>TSubstitution - Missense
LPAENSG00000198670ENST00000316300p.?c.3630-2A>TUnknown
NDST4ENSG00000138653ENST00000264363p.T789Tc.2367A>CSubstitution - coding silent
C2orf76ENSG00000186132ENST00000334816p.G28Ac.83G>CSubstitution - Missense
UGT1A5ENSG00000240224ENST00000373414p.T3Tc.9A>TSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.P2183fs*23c.6548delCDeletion - Frameshift
NHSENSG00000188158ENST00000398097p.Y1016*c.3048C>ASubstitution - Nonsense
ORAI3ENSG00000175938ENST00000318663p.S154Cc.461C>GSubstitution - Missense
TREML1ENSG00000161911ENST00000373127p.L193Lc.579T>ASubstitution - coding silent
IQSEC1ENSG00000144711ENST00000273221p.E603Qc.1807G>CSubstitution - Missense
PRDM13ENSG00000112238ENST00000369215p.L429Fc.1287G>TSubstitution - Missense
SCAPENSG00000114650ENST00000265565p.M447Ic.1341G>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.C2893Cc.8679T>CSubstitution - coding silent
C1QTNF6ENSG00000133466ENST00000397110p.R243Pc.728G>CSubstitution - Missense
TRPC7ENSG00000069018ENST00000513104p.R147Sc.439C>ASubstitution - Missense
SUSD1ENSG00000106868ENST00000374270p.G209Vc.626G>TSubstitution - Missense
CSF1RENSG00000182578ENST00000286301p.E664Gc.1991A>GSubstitution - Missense
KRT16ENSG00000186832ENST00000301653p.?c.1060-8A>TUnknown
UBE2J1ENSG00000198833ENST00000435041p.L296fs*20c.884_885insTInsertion - Frameshift
ZNF292ENSG00000188994ENST00000369577p.P834Ac.2500C>GSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.D1474Yc.4420G>TSubstitution - Missense
PCDHB4ENSG00000081818ENST00000194152p.S383Tc.1147T>ASubstitution - Missense
ESR2ENSG00000140009ENST00000357782p.Q418Hc.1254G>CSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.R334Lc.1001G>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.V3986Dc.11957T>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.V3686Ec.11057T>ASubstitution - Missense
PTPRTENSG00000196090ENST00000373184p.C1067Yc.3200G>ASubstitution - Missense
CACNA1EENSG00000198216ENST00000357570p.G2245Sc.6733G>ASubstitution - Missense
DTNAENSG00000134769ENST00000269191p.?c.1662+8C>AUnknown
DYNC2LI1ENSG00000138036ENST00000406852p.P78Sc.232C>TSubstitution - Missense
KANSL3ENSG00000114982ENST00000440133p.I145Mc.435T>GSubstitution - Missense
CNKSR2ENSG00000149970ENST00000279451p.Q868Ec.2602C>GSubstitution - Missense
TAF1ENSG00000147133ENST00000449580p.G425Vc.1274G>TSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.N4477Dc.13429A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.S1141Cc.3422C>GSubstitution - Missense
ERMARDENSG00000130023ENST00000366772p.?c.961-6C>TUnknown
TP53ENSG00000141510ENST00000269305p.Y220Cc.659A>GSubstitution - Missense
MTUS1ENSG00000129422ENST00000381862p.S547*c.1640C>GSubstitution - Nonsense
CDH18ENSG00000145526ENST00000382275p.D105Yc.313G>TSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.E1423Kc.4267G>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.R334Lc.1001G>TSubstitution - Missense
IKBKEENSG00000143466ENST00000367120p.D678Dc.2034C>TSubstitution - coding silent
DNAH14ENSG00000185842ENST00000366848p.Q194Hc.582G>TSubstitution - Missense
B4GALNT4ENSG00000182272ENST00000329962p.G978fs*3c.2932delGDeletion - Frameshift
OR6P1ENSG00000186440ENST00000334632p.M265Ic.795G>ASubstitution - Missense
OR10X1ENSG00000186400ENST00000368150p.P95Hc.284C>ASubstitution - Missense
MNDAENSG00000163563ENST00000368141p.N297Kc.891C>ASubstitution - Missense
NANOGENSG00000111704ENST00000229307p.S52Tc.154T>ASubstitution - Missense
TMTC2ENSG00000179104ENST00000321196p.S382Lc.1145C>TSubstitution - Missense
A2ML1ENSG00000166535ENST00000299698p.L931Qc.2792T>ASubstitution - Missense
C2CD3ENSG00000168014ENST00000313663p.S70Lc.209C>TSubstitution - Missense
OPTNENSG00000123240ENST00000263036p.R215Sc.645G>CSubstitution - Missense
C2CD3ENSG00000168014ENST00000313663p.?c.4951+8C>GUnknown
LTA4HENSG00000111144ENST00000413268p.S329Sc.987G>ASubstitution - coding silent
SPOCD1ENSG00000134668ENST00000360482p.R233Lc.698G>TSubstitution - Missense
RC3H1ENSG00000135870ENST00000258349p.Q81Hc.243G>TSubstitution - Missense
FRYENSG00000073910ENST00000436046p.F16Fc.48C>TSubstitution - coding silent
NPAP1ENSG00000185823ENST00000329468p.I438Ic.1314C>TSubstitution - coding silent
RPS6KA4ENSG00000162302ENST00000334205p.L273Lc.819G>TSubstitution - coding silent
TET1ENSG00000138336ENST00000373644p.R1783Qc.5348G>ASubstitution - Missense
STIP1ENSG00000168439ENST00000305218p.H36Hc.108C>TSubstitution - coding silent
GRIK3ENSG00000163873ENST00000373091p.A658Dc.1973C>ASubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.Q5906Qc.17718A>GSubstitution - coding silent
LCMT2ENSG00000168806ENST00000305641p.E349Kc.1045G>ASubstitution - Missense
ILDR2ENSG00000143195ENST00000271417p.G387Vc.1160G>TSubstitution - Missense
CCKBRENSG00000110148ENST00000334619p.T178Pc.532A>CSubstitution - Missense
NRXN2ENSG00000110076ENST00000377551p.R323Lc.968G>TSubstitution - Missense
KIAA1377ENSG00000110318ENST00000263468p.C196Fc.587G>TSubstitution - Missense
SLC17A6ENSG00000091664ENST00000263160p.A546Vc.1637C>TSubstitution - Missense
NM_002426.1p.G331Cc.991G>TSubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.D1014Nc.3040G>ASubstitution - Missense
RLFENSG00000117000ENST00000372771p.D677Hc.2029G>CSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.S622Fc.1865C>TSubstitution - Missense
NELL1ENSG00000165973ENST00000357134p.P532Sc.1594C>TSubstitution - Missense
OR2C3ENSG00000196242ENST00000366487p.R224Rc.672G>TSubstitution - coding silent
KCNA10ENSG00000143105ENST00000369771p.S54Rc.162C>ASubstitution - Missense
NOTCH2NLENSG00000213240ENST00000362074p.C29Rc.85T>CSubstitution - Missense
AKAP6ENSG00000151320ENST00000280979p.P611Ac.1831C>GSubstitution - Missense
TPM1ENSG00000140416ENST00000358278p.D157Hc.469G>CSubstitution - Missense
RPL10LENSG00000165496ENST00000298283p.I31Vc.91A>GSubstitution - Missense
SLC5A9ENSG00000117834ENST00000236495p.F427Lc.1281C>ASubstitution - Missense
KAZNENSG00000189337ENST00000361144p.K372Nc.1116G>CSubstitution - Missense
GMEB1ENSG00000162419ENST00000373816p.V559Vc.1677G>CSubstitution - coding silent
COL4A1ENSG00000187498ENST00000375820p.S1155Ic.3464G>TSubstitution - Missense
C15orf52ENSG00000188549ENST00000559313p.P263Qc.788C>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.G8131Wc.24391G>TSubstitution - Missense
ALAS1ENSG00000023330ENST00000394965p.C609Gc.1825T>GSubstitution - Missense
RPL17ENSG00000265681ENST00000418495p.E89Ec.267A>GSubstitution - coding silent
KCNB2ENSG00000182674ENST00000523207p.R307Lc.920G>TSubstitution - Missense
ENST00000356127p.P15701Hc.47102C>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.P9396Hc.28187C>ASubstitution - Missense
NM_003319p.K13488Kc.40464G>ASubstitution - coding silent
NM_003319p.H5272Rc.15815A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.R8384Gc.25150A>GSubstitution - Missense
ENST00000356127p.R8384Gc.25150A>GSubstitution - Missense
ZNF836ENSG00000196267ENST00000322146p.E16Vc.47A>TSubstitution - Missense
ENSG00000196758ENST00000358775p.W82Cc.246G>TSubstitution - Missense
MYH13ENSG00000006788ENST00000252172p.D1656Yc.4966G>TSubstitution - Missense
TNK2ENSG00000061938ENST00000333602p.V622Vc.1866G>TSubstitution - coding silent
NLRC4ENSG00000091106ENST00000404025p.H797Nc.2389C>ASubstitution - Missense
ENST00000338885p.R229Kc.686G>ASubstitution - Missense
ABCA6ENSG00000154262ENST00000284425p.?c.1607-1G>CUnknown
SEC24BENSG00000138802ENST00000265175p.S238Lc.713C>TSubstitution - Missense
TACR3ENSG00000169836ENST00000304883p.A155Ac.465C>ASubstitution - coding silent
MED12LENSG00000144893ENST00000474524p.G1477Rc.4429G>CSubstitution - Missense
C2orf48ENSG00000163009ENST00000381786p.S51Lc.152C>TSubstitution - Missense
MLH1ENSG00000076242ENST00000231790p.L400Vc.1198C>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.G8029Wc.24085G>TSubstitution - Missense
CDH10ENSG00000040731ENST00000264463p.D787Vc.2360A>TSubstitution - Missense
TM4SF4ENSG00000169903ENST00000305354p.H132Qc.396C>GSubstitution - Missense
CD36ENSG00000135218ENST00000394788p.Q87Rc.260A>GSubstitution - Missense
ZFXENSG00000005889ENST00000379188p.P575Pc.1725G>TSubstitution - coding silent
CERKENSG00000100422ENST00000216264p.E301Qc.901G>CSubstitution - Missense
ANTXR1ENSG00000169604ENST00000303714p.?c.224+5G>CUnknown
THSD7BENSG00000144229ENST00000413152p.E1198Kc.3592G>ASubstitution - Missense
THSD7BENSG00000144229ENST00000413152p.G42Rc.124G>ASubstitution - Missense
PNMAL2ENSG00000204851ENST00000377655p.Q138*c.412C>TSubstitution - Nonsense
BAXENSG00000087088ENST00000293288p.R37_G39delRMGc.106_114delGGGCGAATGDeletion - In frame
ZNF688ENSG00000229809ENST00000395219p.G225Wc.673G>TSubstitution - Missense
ZNF785ENSG00000197162ENST00000395216p.R332Cc.994C>TSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.S209*c.626C>GSubstitution - Nonsense
HEXBENSG00000049860ENST00000261416p.T86Tc.258G>CSubstitution - coding silent
EHMT1ENSG00000181090ENST00000460843p.L427Lc.1281C>GSubstitution - coding silent
ENST00000298728p.L396Lc.1188C>GSubstitution - coding silent
LSAMPENSG00000185565ENST00000490035p.E202Kc.604G>ASubstitution - Missense
ENTHD1ENSG00000176177ENST00000325157p.T309Kc.926C>ASubstitution - Missense
CDK19ENSG00000155111ENST00000368911p.E357Qc.1069G>CSubstitution - Missense
DSTENSG00000151914ENST00000370769p.T940Tc.2820C>GSubstitution - coding silent
CACNA1GENSG00000006283ENST00000354983p.R846Sc.2536C>ASubstitution - Missense
THADAENSG00000115970ENST00000405975p.L419Vc.1255C>GSubstitution - Missense
CACNA1GENSG00000006283ENST00000354983p.G290Vc.869G>TSubstitution - Missense
SLC6A18ENSG00000164363ENST00000324642p.?c.732+1G>AUnknown
AGTPBP1ENSG00000135049ENST00000357081p.T350Ic.1049C>TSubstitution - Missense
FIGNL1ENSG00000132436ENST00000395556p.G354*c.1060G>TSubstitution - Nonsense
SCAND3ENSG00000232040ENST00000452236p.D738Hc.2212G>CSubstitution - Missense
PTPRN2ENSG00000155093ENST00000404321p.K471Nc.1413G>TSubstitution - Missense
KIAA0232ENSG00000170871ENST00000307659p.N390Nc.1170T>CSubstitution - coding silent
BBS9ENSG00000122507ENST00000242067p.H867Lc.2600A>TSubstitution - Missense
AOAHENSG00000136250ENST00000258749p.D29Ec.87C>ASubstitution - Missense
ANLNENSG00000011426ENST00000265748p.F569Fc.1707C>TSubstitution - coding silent
TSC2ENSG00000103197ENST00000219476p.S1232Cc.3695C>GSubstitution - Missense
OTOAENSG00000155719ENST00000388958p.S173Sc.519C>ASubstitution - coding silent
NEBENSG00000183091ENST00000427231p.S889Sc.2667A>TSubstitution - coding silent
SH3PXD2BENSG00000174705ENST00000311601p.D711Yc.2131G>TSubstitution - Missense
RHAGENSG00000112077ENST00000371175p.L343Rc.1028T>GSubstitution - Missense
DEFB133ENSG00000214643ENST00000398721p.?c.61-6T>AUnknown
ADCY8ENSG00000155897ENST00000286355p.P590Pc.1770T>ASubstitution - coding silent
TMEM207ENSG00000198398ENST00000354905p.M89Ic.267G>ASubstitution - Missense
NM_003829.1p.G1890Rc.5668G>CSubstitution - Missense
ARHGAP20ENSG00000137727ENST00000533353p.L30Pc.89T>CSubstitution - Missense
ITGB4ENSG00000132470ENST00000339591p.A70Vc.209C>TSubstitution - Missense
CR1ENSG00000203710ENST00000400960p.S1099Ic.3296G>TSubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.E4430Qc.13288G>CSubstitution - Missense
CD34ENSG00000174059ENST00000367036p.A135Tc.403G>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.P148Tc.442C>ASubstitution - Missense
ITIH5ENSG00000123243ENST00000256861p.T405Tc.1215G>TSubstitution - coding silent
ITIH5ENSG00000123243ENST00000397146p.T405Tc.1215G>TSubstitution - coding silent
BTAF1ENSG00000095564ENST00000265990p.E766Kc.2296G>ASubstitution - Missense
EPHA8ENSG00000070886ENST00000166244p.V712Ec.2135T>ASubstitution - Missense
MON2ENSG00000061987ENST00000393632p.E475Qc.1423G>CSubstitution - Missense
SYT13ENSG00000019505ENST00000020926p.D367Hc.1099G>CSubstitution - Missense
ENST00000340456p.C45Fc.134G>TSubstitution - Missense
ENST00000557886_v68p.N167Sc.500A>GSubstitution - Missense
MRPL48ENSG00000175581ENST00000310614p.E154Kc.460G>ASubstitution - Missense
GGPS1ENSG00000152904ENST00000282841p.L267Fc.799C>TSubstitution - Missense
OR10K1ENSG00000173285ENST00000289451p.L211Pc.632T>CSubstitution - Missense
CNTN5ENSG00000149972ENST00000524871p.L254Ic.760C>ASubstitution - Missense
ARID2ENSG00000189079ENST00000334344p.D230Yc.688G>TSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.A4682Ac.14046C>TSubstitution - coding silent
ADRBK1ENSG00000173020ENST00000308595p.K345Tc.1034A>CSubstitution - Missense
BRSK2ENSG00000174672ENST00000382179p.G420Cc.1258G>TSubstitution - Missense
ENST00000291374p.C403Cc.1209C>TSubstitution - coding silent
UNC5BENSG00000107731ENST00000335350p.I77Tc.230T>CSubstitution - Missense
NM_001787p.E52*c.154G>TSubstitution - Nonsense
TPCN1ENSG00000186815ENST00000335509p.S196Yc.587C>ASubstitution - Missense
SLC6A9ENSG00000196517ENST00000372310p.E405*c.1213G>TSubstitution - Nonsense
IL10RAENSG00000110324ENST00000227752p.H44Rc.131A>GSubstitution - Missense
ANO5ENSG00000171714ENST00000324559p.R455fs*12c.1362delGDeletion - Frameshift
ENST00000417177p.P949Rc.2846C>GSubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.A751Ac.2253T>ASubstitution - coding silent
HMCN1ENSG00000143341ENST00000271588p.Q474Hc.1422G>TSubstitution - Missense
CACNB2ENSG00000165995ENST00000377329p.R38Gc.112C>GSubstitution - Missense
OR14A16ENSG00000196772ENST00000357627p.L289Fc.867G>TSubstitution - Missense
BCO2ENSG00000197580ENST00000357685p.E210Gc.629A>GSubstitution - Missense
NM_002837.2p.Q556*c.1666C>TSubstitution - Nonsense
C1orf189ENSG00000163263ENST00000368525p.Q91*c.271C>TSubstitution - Nonsense
PYGO2ENSG00000163348ENST00000368457p.L381Lc.1143C>ASubstitution - coding silent
THBS3ENSG00000169231ENST00000368378p.C374Rc.1120T>CSubstitution - Missense
RBPMS2ENSG00000166831ENST00000300069p.A146Pc.436G>CSubstitution - Missense
BTBD7ENSG00000011114ENST00000298896p.L160Fc.480G>TSubstitution - Missense
KARSENSG00000065427ENST00000319410p.K52Nc.156G>CSubstitution - Missense
RP1ENSG00000104237ENST00000220676p.V51Vc.153C>ASubstitution - coding silent
UNC80ENSG00000144406ENST00000439458p.L1521Hc.4562T>ASubstitution - Missense
ZNF385BENSG00000144331ENST00000410066p.P435Pc.1305C>TSubstitution - coding silent
NRP2ENSG00000118257ENST00000272849p.R405Kc.1214G>ASubstitution - Missense
SPTLC3ENSG00000172296ENST00000399002p.S372Rc.1114A>CSubstitution - Missense
ZNF133ENSG00000125846ENST00000377671p.R401Sc.1203G>TSubstitution - Missense
PHF2ENSG00000197724ENST00000359246p.S760Sc.2280G>TSubstitution - coding silent
HTR2CENSG00000147246ENST00000371951p.T404Nc.1211C>ASubstitution - Missense
ENST00000331986p.T7413Kc.22238C>ASubstitution - Missense
CHD7ENSG00000171316ENST00000423902p.G1504Rc.4510G>ASubstitution - Missense
C3ENSG00000125730ENST00000245907p.Q506Lc.1517A>TSubstitution - Missense
ABCA12ENSG00000144452ENST00000272895p.L1258Pc.3773T>CSubstitution - Missense
CDH26ENSG00000124215ENST00000244047p.G484Vc.1451G>TSubstitution - Missense
ENST00000333834_v70p.P390Qc.1169C>ASubstitution - Missense
GLRA4ENSG00000188828ENST00000372617p.Y415*c.1245C>ASubstitution - Nonsense
PLXNA4ENSG00000221866ENST00000423507p.G460Cc.1378G>TSubstitution - Missense
DSG1ENSG00000134760ENST00000257192p.L943Fc.2829A>TSubstitution - Missense
MAST1ENSG00000105613ENST00000251472p.F433Lc.1299T>GSubstitution - Missense
SCN4AENSG00000007314ENST00000435607p.K1704Tc.5111A>CSubstitution - Missense
LIMCH1ENSG00000064042ENST00000503057p.?c.3439-1G>TUnknown
ADRA2BENSG00000222040ENST00000409345p.G212Vc.635G>TSubstitution - Missense
HIST1H3DENSG00000197409ENST00000356476p.Q6Lc.17A>TSubstitution - Missense
SLC17A1ENSG00000124568ENST00000244527p.V137Fc.409G>TSubstitution - Missense
MARCH6ENSG00000145495ENST00000274140p.?c.1332+7C>GUnknown
ARID1BENSG00000049618ENST00000275248p.T1639Sc.4916C>GSubstitution - Missense
SUN1ENSG00000164828ENST00000456758p.F506Fc.1518C>TSubstitution - coding silent
EIF1AXENSG00000173674ENST00000379607p.G8Ac.23G>CSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.E3138Dc.9414A>TSubstitution - Missense
MAGEB2ENSG00000099399ENST00000378988p.H238Pc.713A>CSubstitution - Missense
KALRNENSG00000160145ENST00000240874p.S1138Rc.3414C>GSubstitution - Missense
PARP14ENSG00000173193ENST00000474629p.E1060Kc.3178G>ASubstitution - Missense
MAPK3ENSG00000102882ENST00000263025p.V63Mc.187G>ASubstitution - Missense
ZNF668ENSG00000167394ENST00000539836p.S489Lc.1466C>TSubstitution - Missense
PRR14ENSG00000156858ENST00000300835p.?c.548+3G>TUnknown
FCHO1ENSG00000130475ENST00000252771p.E825Kc.2473G>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.V2792Lc.8374G>TSubstitution - Missense
FAM227AENSG00000184949ENST00000355830p.A433Vc.1298C>TSubstitution - Missense
ENST00000368602_v68p.L145Fc.435G>TSubstitution - Missense
UTYENSG00000183878ENST00000331397p.P868Sc.2602C>TSubstitution - Missense
ACOT12ENSG00000172497ENST00000307624p.P192Hc.575C>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.G290Vc.869G>TSubstitution - Missense
SMC2ENSG00000136824ENST00000286398p.Q718Hc.2154G>TSubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.G365Vc.1094G>TSubstitution - Missense
PPP1R26ENSG00000196422ENST00000356818p.P174Pc.522G>TSubstitution - coding silent
BACH2ENSG00000112182ENST00000257749p.G534Vc.1601G>TSubstitution - Missense
NACADENSG00000136274ENST00000490531p.G1431Vc.4292G>TSubstitution - Missense
CCDC116ENSG00000161180ENST00000292779p.R383Tc.1148G>CSubstitution - Missense
SLC7A4ENSG00000099960ENST00000382932p.G233Vc.698G>TSubstitution - Missense
C2CD4CENSG00000183186ENST00000332235p.K46Mc.137A>TSubstitution - Missense
VARS2ENSG00000137411ENST00000321897p.E228Kc.682G>ASubstitution - Missense
GABRA6ENSG00000145863ENST00000274545p.N325Kc.975C>ASubstitution - Missense
ZSWIM3ENSG00000132801ENST00000255152p.L330Lc.990C>GSubstitution - coding silent
SLC13A3ENSG00000158296ENST00000279027p.R110Rc.330G>TSubstitution - coding silent
SLC13A3ENSG00000158296ENST00000339636p.R110Rc.330G>TSubstitution - coding silent
ZNF234ENSG00000263002ENST00000426739p.L499Ic.1495C>ASubstitution - Missense
ENSG00000265629ENST00000581929p.G136Vc.407G>TSubstitution - Missense
MAN2B2ENSG00000013288ENST00000285599p.?c.1539+1G>CUnknown
LMBR1ENSG00000105983ENST00000353442p.Y183Cc.548A>GSubstitution - Missense
SLC4A10ENSG00000144290ENST00000375514p.R74*c.220C>TSubstitution - Nonsense
PKHD1ENSG00000170927ENST00000340994p.Q3022Kc.9064C>ASubstitution - Missense
HYDINENSG00000157423ENST00000393550p.E654*c.1960G>TSubstitution - Nonsense
CD177ENSG00000204936ENST00000378009p.?c.502+4A>TUnknown
FAM135BENSG00000147724ENST00000395297p.P1314Rc.3941C>GSubstitution - Missense
SENP2ENSG00000163904ENST00000296257p.G196Cc.586G>TSubstitution - Missense
ZEB1ENSG00000148516ENST00000446923p.S269*c.806C>ASubstitution - Nonsense
TP53ENSG00000141510ENST00000420246p.Y220Cc.659A>GSubstitution - Missense
SCN1AENSG00000144285ENST00000303395p.F1822Lc.5466C>ASubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.Q5398Qc.16194A>GSubstitution - coding silent
ADAMTSL4ENSG00000143382ENST00000369039p.S490Fc.1469C>TSubstitution - Missense
HNRNPUL1ENSG00000105323ENST00000378215p.A273Ac.819A>GSubstitution - coding silent
ESR2ENSG00000140009ENST00000357782p.?c.652+1G>AUnknown
PLD5ENSG00000180287ENST00000427495p.?c.421+1G>TUnknown
SLC45A1ENSG00000162426ENST00000377479p.L155Lc.465C>TSubstitution - coding silent
LIMCH1ENSG00000064042ENST00000396595p.?c.1822-1G>TUnknown
NFATC4ENSG00000100968ENST00000556279p.?c.2737+5_2737+6insGUnknown
SYNE1ENSG00000131018ENST00000341594p.D3710Hc.11128G>CSubstitution - Missense
PLECENSG00000178209ENST00000354589p.G4200Vc.12599G>TSubstitution - Missense
CUL4BENSG00000158290ENST00000336592p.R883Rc.2649G>TSubstitution - coding silent
DIAPH2ENSG00000147202ENST00000373049p.R928Hc.2783G>ASubstitution - Missense
DOPEY1ENSG00000083097ENST00000237163p.M119Vc.355A>GSubstitution - Missense
SLC44A5ENSG00000137968ENST00000370855p.V626Fc.1876G>TSubstitution - Missense
ZNF155ENSG00000204920ENST00000270014p.R467Lc.1400G>TSubstitution - Missense
PHKBENSG00000102893ENST00000323584p.R622Lc.1865G>TSubstitution - Missense
PHKBENSG00000102893ENST00000566044p.R615Lc.1844G>TSubstitution - Missense
LMO4ENSG00000143013ENST00000370544p.C165Fc.494G>TSubstitution - Missense
HTR3AENSG00000166736ENST00000355556p.R197Gc.589C>GSubstitution - Missense
NM_016358.1p.S142Sc.426C>TSubstitution - coding silent
POGZENSG00000143442ENST00000271715p.E935Qc.2803G>CSubstitution - Missense
CACNB2ENSG00000165995ENST00000352115p.R92Gc.274C>GSubstitution - Missense
ANKRD26ENSG00000107890ENST00000376087p.?c.1814+8G>CUnknown
PTPRCENSG00000081237ENST00000442510p.N131fs*67c.390_391insAInsertion - Frameshift
ALG9ENSG00000086848ENST00000531154p.G35Rc.103G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.V605Vc.1815G>TSubstitution - coding silent
PCDH15ENSG00000150275ENST00000361849p.G486Cc.1456G>TSubstitution - Missense
PTGS2ENSG00000073756ENST00000367468p.K82Nc.246G>TSubstitution - Missense
CUBNENSG00000107611ENST00000377833p.D2786Hc.8356G>CSubstitution - Missense
DSTYKENSG00000133059ENST00000367162p.L593Lc.1779C>GSubstitution - coding silent
SYTL2ENSG00000137501ENST00000359152p.S273Cc.818C>GSubstitution - Missense
OR13G1ENSG00000197437ENST00000359688p.M285Ic.855G>ASubstitution - Missense
MPHOSPH9ENSG00000051825ENST00000541076p.?c.2574-2A>TUnknown
SU_QSKp.P1238Pc.3714G>CSubstitution - coding silent
HECTD1ENSG00000092148ENST00000399332p.R1741Qc.5222G>ASubstitution - Missense
ITPR2ENSG00000123104ENST00000381340p.Q2004Qc.6012G>ASubstitution - coding silent
CACNA1CENSG00000151067ENST00000399617p.Q766Lc.2297A>TSubstitution - Missense
GRM5ENSG00000168959ENST00000305432p.M802Tc.2405T>CSubstitution - Missense
IGFN1ENSG00000163395ENST00000335211p.A359Sc.1075G>TSubstitution - Missense
MCOLN2ENSG00000153898ENST00000370608p.E125*c.373G>TSubstitution - Nonsense
ANP32AENSG00000140350ENST00000465139p.L47*c.140T>ASubstitution - Nonsense
UGT3A1ENSG00000145626ENST00000274278p.H49Nc.145C>ASubstitution - Missense
SPOPENSG00000121067ENST00000393328p.P17Hc.50C>ASubstitution - Missense
IGF2BP1ENSG00000159217ENST00000290341p.S152Sc.456C>TSubstitution - coding silent
LEPRENSG00000116678ENST00000344610p.D45Gc.134A>GSubstitution - Missense
DOCK11ENSG00000147251ENST00000276202p.K1925Rc.5774A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.P7407Pc.22221T>CSubstitution - coding silent
NM_003319p.I29Tc.86T>CSubstitution - Missense
WDR75ENSG00000115368ENST00000314761p.M750Tc.2249T>CSubstitution - Missense
CPT1CENSG00000169169ENST00000323446p.A4Ac.12G>TSubstitution - coding silent
MADCAM1ENSG00000099866ENST00000215637p.S358Fc.1073C>TSubstitution - Missense
CADPSENSG00000163618ENST00000383710p.V721Ic.2161G>ASubstitution - Missense
TAF1LENSG00000122728ENST00000242310p.S458Sc.1374T>CSubstitution - coding silent
PDE4AENSG00000065989ENST00000293683p.A147Vc.440C>TSubstitution - Missense
TRAPPC8ENSG00000153339ENST00000283351p.T1416Ic.4247C>TSubstitution - Missense
GDF6ENSG00000156466ENST00000287020p.V162fs*200c.484delGDeletion - Frameshift
TRPM3ENSG00000083067ENST00000377110p.S116Sc.348C>ASubstitution - coding silent
TRPM3ENSG00000083067ENST00000423814p.S118Sc.354C>ASubstitution - coding silent
MFHAS1ENSG00000147324ENST00000276282p.P1039Pc.3117C>TSubstitution - coding silent
CD7ENSG00000173762ENST00000312648p.I57Ic.171C>ASubstitution - coding silent
SCAF4ENSG00000156304ENST00000286835p.R1030Sc.3090G>CSubstitution - Missense
KRTAP4-7ENSG00000240871ENST00000391417p.R41Sc.121C>ASubstitution - Missense
PPEF2ENSG00000156194ENST00000286719p.?c.532+8C>AUnknown
PROL1ENSG00000171199ENST00000399575p.P234Qc.701C>ASubstitution - Missense
MTUS1ENSG00000129422ENST00000262102p.S547*c.1640C>GSubstitution - Nonsense
ENST00000273600p.?c.12634-10C>GUnknown
PPP1R12CENSG00000125503ENST00000263433p.R760Lc.2279G>TSubstitution - Missense
AURKBENSG00000178999ENST00000585124p.K194Nc.582G>TSubstitution - Missense
NM_007332.1p.G271Rc.811G>CSubstitution - Missense
PLECENSG00000178209ENST00000354958p.G4178Vc.12533G>TSubstitution - Missense
PASKENSG00000115687ENST00000234040p.?c.877-3C>GUnknown
SP3ENSG00000172845ENST00000310015p.G278fs*9c.833delGDeletion - Frameshift
CNOT3ENSG00000088038ENST00000221232p.G488Wc.1462G>TSubstitution - Missense
OGFRENSG00000060491ENST00000370461p.R229fs*97c.686delGDeletion - Frameshift
SIGLEC6ENSG00000105492ENST00000346477p.V74Vc.222G>ASubstitution - coding silent
TRAT1ENSG00000163519ENST00000295756p.?c.118+1G>AUnknown
DKK2ENSG00000155011ENST00000285311p.N157Ic.470A>TSubstitution - Missense
CADENSG00000084774ENST00000264705p.?c.5395-3C>TUnknown
ZSCAN1ENSG00000152467ENST00000282326p.P347Tc.1039C>ASubstitution - Missense
PEG3ENSG00000198300ENST00000423103p.F461Lc.1383C>ASubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.E2165*c.6493G>TSubstitution - Nonsense
ENST00000234388p.G247Wc.739G>TSubstitution - Missense
GPR56ENSG00000205336ENST00000379696p.?c.1063+1G>TUnknown
MCEEENSG00000124370ENST00000244217p.R143Lc.428G>TSubstitution - Missense
HNRNPUL1ENSG00000105323ENST00000392006p.A387Ac.1161A>GSubstitution - coding silent
BAZ2BENSG00000123636ENST00000392783p.R592Tc.1775G>CSubstitution - Missense
TNNC2ENSG00000101470ENST00000372555p.M136Ic.408G>ASubstitution - Missense
NM_002847.2p.K448Nc.1344G>TSubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.N252Ic.755A>TSubstitution - Missense
KCNH7ENSG00000184611ENST00000332142p.I511Ic.1533T>ASubstitution - coding silent
KCNH7ENSG00000184611ENST00000328032p.I504Ic.1512T>ASubstitution - coding silent
TNXBENSG00000168477ENST00000451343p.G42Vc.125G>TSubstitution - Missense
EMR2ENSG00000127507ENST00000315576p.P754Rc.2261C>GSubstitution - Missense
HES1ENSG00000114315ENST00000232424p.E7Dc.21G>CSubstitution - Missense
VWA5B2ENSG00000145198ENST00000426955p.G768Gc.2304C>ASubstitution - coding silent
WDR17ENSG00000150627ENST00000280190p.R388Ic.1163G>TSubstitution - Missense
COL13A1ENSG00000197467ENST00000356340p.K681Nc.2043A>CSubstitution - Missense
ZEB1ENSG00000148516ENST00000446923p.E479*c.1435G>TSubstitution - Nonsense
RYR2ENSG00000198626ENST00000360064p.E1081Vc.3242A>TSubstitution - Missense
SNX27ENSG00000143376ENST00000368838p.R383Rc.1149A>GSubstitution - coding silent
GLIPR1L1ENSG00000173401ENST00000378695p.P224Hc.671C>ASubstitution - Missense
ENST00000345013p.L108Ic.322T>ASubstitution - Missense
OR4A15ENSG00000181958ENST00000314706p.S344*c.1031C>ASubstitution - Nonsense
WT1ENSG00000184937ENST00000332351p.G181Cc.541G>TSubstitution - Missense
UBR4ENSG00000127481ENST00000375267p.A2505Pc.7513G>CSubstitution - Missense
FLNBENSG00000136068ENST00000357272p.Q1559Ec.4675C>GSubstitution - Missense
UNKENSG00000132478ENST00000293218p.?c.623-10C>TUnknown
NPLOC4ENSG00000182446ENST00000374747p.Y122Yc.366C>TSubstitution - coding silent
PROCENSG00000115718ENST00000453608p.K91Mc.272A>TSubstitution - Missense
BCORL1ENSG00000085185ENST00000303743p.E898*c.2692G>TSubstitution - Nonsense
SVEP1ENSG00000165124ENST00000302728p.G365Vc.1094G>TSubstitution - Missense
LAMB4ENSG00000091128ENST00000388780p.A555Tc.1663G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.G7958Vc.23873G>TSubstitution - Missense
ENST00000328843_v70p.S3930Rc.11790C>ASubstitution - Missense
OPRM1ENSG00000112038ENST00000360422p.R367Lc.1100G>TSubstitution - Missense
PMLENSG00000140464ENST00000268058p.E363Kc.1087G>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.P148Qc.443C>ASubstitution - Missense
SDE2ENSG00000143751ENST00000272091p.H161Yc.481C>TSubstitution - Missense
DIAPH3ENSG00000139734ENST00000400324p.E696Ec.2088G>ASubstitution - coding silent
INSRRENSG00000027644ENST00000368195p.I335Ic.1005C>TSubstitution - coding silent
SP7ENSG00000170374ENST00000536324p.A18Dc.53C>ASubstitution - Missense
GLS2ENSG00000135423ENST00000311966p.R477fs*62c.1428delGDeletion - Frameshift
EPHB2ENSG00000133216ENST00000374632p.?c.2139+5G>TUnknown
CERS5ENSG00000139624ENST00000317551p.E392Qc.1174G>CSubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.W2351Lc.7052G>TSubstitution - Missense
BBS10ENSG00000179941ENST00000393262p.P354Pc.1062A>GSubstitution - coding silent
SU_OBSCN.1p.I6627Mc.19881C>GSubstitution - Missense
SMYD3ENSG00000185420ENST00000541742p.?c.637-6G>CUnknown
NLRP3ENSG00000162711ENST00000391828p.M647Ic.1941G>TSubstitution - Missense
CEP170ENSG00000143702ENST00000366542p.E1289*c.3865G>TSubstitution - Nonsense
NHLRC2ENSG00000196865ENST00000369301p.S260Gc.778A>GSubstitution - Missense
SYT7ENSG00000011347ENST00000263846p.W254fs*1c.762delGDeletion - Frameshift
INF2ENSG00000203485ENST00000392634p.E1089Kc.3265G>ASubstitution - Missense
CHD8ENSG00000100888ENST00000430710p.P1589Pc.4767C>TSubstitution - coding silent
TEP1ENSG00000129566ENST00000262715p.V1381Vc.4143G>TSubstitution - coding silent
PTPRUENSG00000060656ENST00000345512p.Q443*c.1327C>TSubstitution - Nonsense
DNALI1ENSG00000163879ENST00000296218p.D82Hc.244G>CSubstitution - Missense
ENST00000538912p.G55Gc.165T>ASubstitution - coding silent
MAP1LC3CENSG00000197769ENST00000357246p.L88Lc.264G>ASubstitution - coding silent
ARFIP2ENSG00000132254ENST00000396777p.D123Ac.368A>CSubstitution - Missense
ENST00000312536p.L221Fc.661C>TSubstitution - Missense
ZNF365ENSG00000138311ENST00000395255p.C320Sc.958T>ASubstitution - Missense
USH1CENSG00000006611ENST00000005226p.I66Ic.198C>ASubstitution - coding silent
SNRPNENSG00000128739ENST00000400100p.?c.267+5G>TUnknown
FCRLAENSG00000132185ENST00000367959p.K3Rc.8A>GSubstitution - Missense
SHISA9ENSG00000237515ENST00000558583p.T264Kc.791C>ASubstitution - Missense
TPSG1ENSG00000116176ENST00000234798p.?c.512-1G>CUnknown
ENST00000331497p.F215Cc.644T>GSubstitution - Missense
KCNH5ENSG00000140015ENST00000322893p.S955Tc.2863T>ASubstitution - Missense
TPM1ENSG00000140416ENST00000288398p.D157Hc.469G>CSubstitution - Missense
ITPK1ENSG00000100605ENST00000354313p.D86Nc.256G>ASubstitution - Missense
ENSG00000117600ENST00000370185p.R730*c.2188A>TSubstitution - Nonsense
RBFOX1ENSG00000078328ENST00000311745p.R204Sc.610C>ASubstitution - Missense
C15orf41ENSG00000186073ENST00000437989p.T271Tc.813G>TSubstitution - coding silent
NM_003319p.N3786Kc.11358C>ASubstitution - Missense
CDC27ENSG00000004897ENST00000531206p.V683Vc.2049A>GSubstitution - coding silent
SP6ENSG00000189120ENST00000342234p.A196Ac.588C>ASubstitution - coding silent
PRKACBENSG00000142875ENST00000394838p.A10Sc.28G>TSubstitution - Missense
CSTF2ENSG00000101811ENST00000372972p.R294Lc.881G>TSubstitution - Missense
CSTF2ENSG00000101811ENST00000372972p.R319*c.955C>TSubstitution - Nonsense
CTSVENSG00000136943ENST00000259470p.?c.396+9G>TUnknown
RRS1ENSG00000179041ENST00000320270p.G345Gc.1035G>TSubstitution - coding silent
ENST00000356127p.A7246Sc.21736G>TSubstitution - Missense
TSKSENSG00000126467ENST00000246801p.G310Dc.929G>ASubstitution - Missense
DNAH9ENSG00000007174ENST00000262442p.N2245Yc.6733A>TSubstitution - Missense
VWDEENSG00000146530ENST00000275358p.E658Dc.1974A>TSubstitution - Missense
PODXLENSG00000128567ENST00000378555p.V107Lc.319G>TSubstitution - Missense
SOGA1ENSG00000149639ENST00000237536p.Q742Rc.2225A>GSubstitution - Missense
MAN2B1ENSG00000104774ENST00000221363p.G716Wc.2146G>TSubstitution - Missense
FLNBENSG00000136068ENST00000490882p.Q1590Ec.4768C>GSubstitution - Missense
ENST00000357018p.D1729Hc.5185G>CSubstitution - Missense
KRTAP10-5ENSG00000241123ENST00000400372p.P60Hc.179C>ASubstitution - Missense
ENST00000354677p.H807Rc.2420A>GSubstitution - Missense
ZNF655ENSG00000197343ENST00000394163p.C340Yc.1019G>ASubstitution - Missense
KIF13AENSG00000137177ENST00000378814p.D1581Hc.4741G>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.T25417Sc.76249A>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.L16641Ic.49921C>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.V23010Ec.69029T>ASubstitution - Missense
DEFB119ENSG00000180483ENST00000376321p.M29Ic.87G>TSubstitution - Missense
MARS2ENSG00000247626ENST00000282276p.S33Sc.99C>TSubstitution - coding silent
NIF3L1ENSG00000196290ENST00000409020p.E75Kc.223G>ASubstitution - Missense
NM_003319p.P9204Hc.27611C>ASubstitution - Missense
ZNF385DENSG00000151789ENST00000281523p.?c.23-5C>AUnknown
PRPF6ENSG00000101161ENST00000266079p.W312Cc.936G>CSubstitution - Missense
ZNF836ENSG00000196267ENST00000322146p.E16Vc.47A>TSubstitution - Missense
ENSG00000083842ENST00000196548p.G263Wc.787G>TSubstitution - Missense
KLF11ENSG00000172059ENST00000305883p.R390Qc.1169G>ASubstitution - Missense
CCNG2ENSG00000138764ENST00000316355p.E246Dc.738G>TSubstitution - Missense
PEG3ENSG00000198300ENST00000326441p.F461Lc.1383C>ASubstitution - Missense
CNOT1ENSG00000125107ENST00000317147p.R232Wc.694C>TSubstitution - Missense
RGPD3ENSG00000153165ENST00000409886p.K123Ic.368A>TSubstitution - Missense
DESENSG00000175084ENST00000373960p.L115Lc.345C>TSubstitution - coding silent
CNKSR2ENSG00000149970ENST00000379510p.N33Ic.98A>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.D3739Hc.11215G>CSubstitution - Missense
PLGENSG00000122194ENST00000308192p.V74Ec.221T>ASubstitution - Missense
ENST00000344062p.K472fs*14c.1413delGDeletion - Frameshift
MCATENSG00000100294ENST00000290429p.L354Lc.1062G>CSubstitution - coding silent
ANTXR1ENSG00000169604ENST00000409349p.?c.224+5G>CUnknown
CASRENSG00000036828ENST00000296154p.A986Ac.2958C>TSubstitution - coding silent
CALN1ENSG00000183166ENST00000395275p.H46Nc.136C>ASubstitution - Missense
GRID2IPENSG00000215045ENST00000457091p.A160Sc.478G>TSubstitution - Missense
ATP8B3ENSG00000130270ENST00000539485p.E1246Vc.3737A>TSubstitution - Missense
SPHK2ENSG00000063176ENST00000245222p.L19Lc.57G>TSubstitution - coding silent
ENST00000357281p.T365Sc.1094C>GSubstitution - Missense
ACSL1ENSG00000151726ENST00000281455p.T383Sc.1147A>TSubstitution - Missense
ZNF462ENSG00000148143ENST00000457913p.C164Yc.491G>ASubstitution - Missense
ENST00000368626p.E146*c.436G>TSubstitution - Nonsense
FBN2ENSG00000138829ENST00000262464p.I485Vc.1453A>GSubstitution - Missense
INPP5EENSG00000148384ENST00000371712p.L375Lc.1125C>GSubstitution - coding silent
OR1D2ENSG00000184166ENST00000331459p.E180Dc.540G>CSubstitution - Missense
PSMD11ENSG00000108671ENST00000261712p.R187Qc.560G>ASubstitution - Missense
DYRK1BENSG00000105204ENST00000348817p.H237Yc.709C>TSubstitution - Missense
C11orf63ENSG00000109944ENST00000307257p.E87*c.259G>TSubstitution - Nonsense
TRIM49BENSG00000182053ENST00000332682p.R225Wc.673A>TSubstitution - Missense
AURKAIP1ENSG00000175756ENST00000378853p.R164Cc.490C>TSubstitution - Missense
TBX15ENSG00000092607ENST00000369429p.C392Sc.1175G>CSubstitution - Missense
WDR47ENSG00000085433ENST00000400794p.Y673Cc.2018A>GSubstitution - Missense
OR5T3ENSG00000172489ENST00000303059p.T136Ic.407C>TSubstitution - Missense
EML2ENSG00000125746ENST00000536630p.V500Mc.1498G>ASubstitution - Missense
HHATENSG00000054392ENST00000545154p.G356Cc.1066G>TSubstitution - Missense
HSPG2ENSG00000142798ENST00000374673p.?c.184-3C>TUnknown
RYR2ENSG00000198626ENST00000360064p.V661Ic.1981G>ASubstitution - Missense
BCAS3ENSG00000141376ENST00000589222p.D858Vc.2573A>TSubstitution - Missense
EXOC7ENSG00000182473ENST00000335146p.L171Mc.511T>ASubstitution - Missense
PTPRTENSG00000196090ENST00000373184p.G559Vc.1676G>TSubstitution - Missense
CHST5ENSG00000135702ENST00000541075p.V226Vc.678G>TSubstitution - coding silent
HEPHENSG00000089472ENST00000519389p.Y177Cc.530A>GSubstitution - Missense
FNDC1ENSG00000164694ENST00000297267p.R1609*c.4825C>TSubstitution - Nonsense
LEPREL1ENSG00000090530ENST00000319332p.L164Lc.492C>TSubstitution - coding silent
NM_003319p.L22223Lc.66669G>ASubstitution - coding silent
OPRM1ENSG00000112038ENST00000229768p.R367Lc.1100G>TSubstitution - Missense
PALMDENSG00000099260ENST00000263174p.E450Kc.1348G>ASubstitution - Missense
HS6ST3ENSG00000185352ENST00000376705p.T422Nc.1265C>ASubstitution - Missense
KLRC1ENSG00000134545ENST00000359151p.P65Pc.195A>GSubstitution - coding silent
MYCBP2ENSG00000005810ENST00000357337p.Q949Ec.2845C>GSubstitution - Missense
SU_NEK5p.L383Lc.1149G>ASubstitution - coding silent
RFX4ENSG00000111783ENST00000357881p.S41Rc.123C>ASubstitution - Missense
HTR7ENSG00000148680ENST00000371721p.?c.539+5G>TUnknown
MAT1AENSG00000151224ENST00000372213p.T86Tc.258C>ASubstitution - coding silent
HSPA8ENSG00000109971ENST00000532636p.H249Rc.746A>GSubstitution - Missense
UCP3ENSG00000175564ENST00000314032p.E309fs*>5c.925_926insGInsertion - Frameshift
ACTN2ENSG00000077522ENST00000366578p.K318Nc.954G>TSubstitution - Missense
H1FNTENSG00000187166ENST00000335017p.R15Cc.43C>TSubstitution - Missense
TDRD9ENSG00000156414ENST00000409874p.F1006Fc.3018C>TSubstitution - coding silent
NFATC4ENSG00000100968ENST00000250373p.?c.2641+5_2641+6insGUnknown
OR4M1ENSG00000176299ENST00000315957p.Q183Lc.548A>TSubstitution - Missense
GPR123ENSG00000197177ENST00000392607p.Y291Hc.871T>CSubstitution - Missense
RBBP4ENSG00000162521ENST00000373493p.?c.311-1G>CUnknown
MYBPC1ENSG00000196091ENST00000360610p.E394Qc.1180G>CSubstitution - Missense
CCDC147ENSG00000120051ENST00000369704p.L519Lc.1557A>GSubstitution - coding silent
AKAP3ENSG00000111254ENST00000228850p.E65Kc.193G>ASubstitution - Missense
PCENSG00000173599ENST00000355677p.A227fs*70c.678delCDeletion - Frameshift
NM_002155.3p.E305Qc.913G>CSubstitution - Missense
DCLK1ENSG00000133083ENST00000379893p.D324Hc.970G>CSubstitution - Missense
USH1CENSG00000006611ENST00000005226p.K824Nc.2472G>TSubstitution - Missense
ATP13A2ENSG00000159363ENST00000326735p.R74Qc.221G>ASubstitution - Missense
GJB4ENSG00000189433ENST00000339480p.R223Lc.668G>TSubstitution - Missense
RABGAP1LENSG00000152061ENST00000251507p.G451*c.1351G>TSubstitution - Nonsense
TBX15ENSG00000092607ENST00000207157p.C286Sc.857G>CSubstitution - Missense
SMPD1ENSG00000166311ENST00000342245p.G23Gc.69G>TSubstitution - coding silent
EHBP1L1ENSG00000173442ENST00000309295p.R555Wc.1663A>TSubstitution - Missense
ENST00000334821p.Q4Kc.10C>ASubstitution - Missense
NM_024426.2p.G113Cc.337G>TSubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.P944Rc.2831C>GSubstitution - Missense
ZNF410ENSG00000119725ENST00000555044p.L138Vc.412T>GSubstitution - Missense
DPF3ENSG00000205683ENST00000541685p.R346Rc.1038G>TSubstitution - coding silent
IFT140ENSG00000187535ENST00000426508p.I1134Ic.3402C>TSubstitution - coding silent
OGFOD2ENSG00000111325ENST00000228922p.L283Lc.849C>GSubstitution - coding silent
OR14A16ENSG00000196772ENST00000357627p.A196Tc.586G>ASubstitution - Missense
OR2T8ENSG00000177462ENST00000319968p.V307Ec.920T>ASubstitution - Missense
DCST2ENSG00000163354ENST00000368424p.G603Rc.1807G>CSubstitution - Missense
HCN3ENSG00000143630ENST00000368358p.R628Rc.1884G>TSubstitution - coding silent
LCE3EENSG00000185966ENST00000368789p.Q4Kc.10C>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.Q766Lc.2297A>TSubstitution - Missense
AVPR1BENSG00000198049ENST00000367126p.R238Wc.712C>TSubstitution - Missense
WDR89ENSG00000140006ENST00000394942p.E104Gc.311A>GSubstitution - Missense
TRPV2ENSG00000187688ENST00000338560p.Q558Hc.1674G>CSubstitution - Missense
VWDEENSG00000146530ENST00000275358p.H756Rc.2267A>GSubstitution - Missense
VWDEENSG00000146530ENST00000275358p.H15Rc.44A>GSubstitution - Missense
ZNFX1ENSG00000124201ENST00000371752p.G1232Ec.3695G>ASubstitution - Missense
CBLN4ENSG00000054803ENST00000064571p.E85*c.253G>TSubstitution - Nonsense
MROH8ENSG00000101353ENST00000400441p.E291Kc.871G>ASubstitution - Missense
BPIFB3ENSG00000186190ENST00000375494p.?c.528-10C>AUnknown
SIGLEC1ENSG00000088827ENST00000202578p.P763Tc.2287C>ASubstitution - Missense
GNASENSG00000087460ENST00000313949p.D228Dc.684C>TSubstitution - coding silent
MAP2K3ENSG00000034152ENST00000316920p.P242Qc.725C>ASubstitution - Missense
SCN4AENSG00000007314ENST00000435607p.?c.3319-6C>AUnknown
TRPM3ENSG00000083067ENST00000377105p.T1412Tc.4236A>CSubstitution - coding silent
UBAP1ENSG00000165006ENST00000359544p.R202Sc.606G>CSubstitution - Missense
CACNB1ENSG00000067191ENST00000394303p.W409Sc.1226G>CSubstitution - Missense
SLC14A2ENSG00000132874ENST00000255226p.P234Sc.700C>TSubstitution - Missense
EPG5ENSG00000152223ENST00000282041p.Q985Hc.2955G>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.R5312Kc.15935G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.P15701Hc.47102C>ASubstitution - Missense
ENSG00000258947ENST00000315491p.C201Fc.602G>TSubstitution - Missense
CDH15ENSG00000129910ENST00000289746p.E356Kc.1066G>ASubstitution - Missense
MFSD2BENSG00000205639ENST00000406420p.W144Rc.430T>CSubstitution - Missense
CCNB3ENSG00000147082ENST00000376042p.S753Sc.2259C>TSubstitution - coding silent
TRAK1ENSG00000182606ENST00000341421p.P429Pc.1287G>TSubstitution - coding silent
SMC1AENSG00000072501ENST00000322213p.R747Lc.2240G>TSubstitution - Missense
C7orf31ENSG00000153790ENST00000283905p.R354Sc.1060C>ASubstitution - Missense
TRAM1L1ENSG00000174599ENST00000310754p.E366Qc.1096G>CSubstitution - Missense
DPP10ENSG00000175497ENST00000310323p.T428Tc.1284T>GSubstitution - coding silent
FAM188BENSG00000106125ENST00000265299p.D728Yc.2182G>TSubstitution - Missense
EIF3BENSG00000106263ENST00000397011p.K459Kc.1377G>ASubstitution - coding silent
COL4A3ENSG00000169031ENST00000396578p.G46Vc.137G>TSubstitution - Missense
C2orf76ENSG00000186132ENST00000334816p.G4Vc.11G>TSubstitution - Missense
PNKDENSG00000127838ENST00000258362p.R287Lc.860G>TSubstitution - Missense
LRFN2ENSG00000156564ENST00000338305p.D203Yc.607G>TSubstitution - Missense
CRXENSG00000105392ENST00000221996p.L78Mc.232C>ASubstitution - Missense
TSPY2ENSG00000168757ENST00000320701p.Q153Qc.459G>ASubstitution - coding silent
PLXNB1ENSG00000164050ENST00000296440p.L2135Lc.6405A>GSubstitution - coding silent
ENST00000316266p.H12Hc.36T>CSubstitution - coding silent
CMYA5ENSG00000164309ENST00000446378p.P1594Pc.4782G>ASubstitution - coding silent
CSPG5ENSG00000114646ENST00000264723p.R340Wc.1018A>TSubstitution - Missense
SYCP2LENSG00000153157ENST00000283141p.E272Qc.814G>CSubstitution - Missense
QRSL1ENSG00000130348ENST00000369046p.?c.381-1G>TUnknown
CDH7ENSG00000081138ENST00000323011p.S137Sc.411G>TSubstitution - coding silent
TRPC7ENSG00000069018ENST00000513104p.R147Sc.439C>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.L1220Lc.3660G>TSubstitution - coding silent
DCDC2CENSG00000214866ENST00000399143p.E102Ec.306A>GSubstitution - coding silent
SPAG9ENSG00000008294ENST00000357122p.?c.1623-7C>GUnknown
ZNF573ENSG00000189144ENST00000339503p.Q347Ec.1039C>GSubstitution - Missense
ACTL6AENSG00000136518ENST00000429709p.D97Gc.290A>GSubstitution - Missense
C17orf66ENSG00000172653ENST00000311880p.M47Ic.141G>ASubstitution - Missense
ZNF292ENSG00000188994ENST00000339907p.P689Ac.2065C>GSubstitution - Missense
RANBP9ENSG00000010017ENST00000011619p.D337Hc.1009G>CSubstitution - Missense
GABBR1ENSG00000204681ENST00000377034p.N628fs*2c.1881delCDeletion - Frameshift
SLC4A10ENSG00000144290ENST00000446997p.W801Lc.2402G>TSubstitution - Missense
ZSCAN12ENSG00000158691ENST00000361028p.?c.1694+9T>GUnknown
CYP4F3ENSG00000186529ENST00000221307p.I173Vc.517A>GSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.V285Vc.855G>TSubstitution - coding silent
ZSWIM3ENSG00000132801ENST00000255152p.W678Lc.2033G>TSubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.A954Ac.2862T>CSubstitution - coding silent
SH3PXD2BENSG00000174705ENST00000311601p.P284Pc.852C>ASubstitution - coding silent
IL17FENSG00000112116ENST00000336123p.A100Tc.298G>ASubstitution - Missense
GPR111ENSG00000164393ENST00000296862p.S51Tc.151T>ASubstitution - Missense
SCAIENSG00000173611ENST00000373549p.F453Lc.1359C>ASubstitution - Missense
AKNAENSG00000106948ENST00000307564p.G859Cc.2575G>TSubstitution - Missense
TNKS1BP1ENSG00000149115ENST00000358252p.G1338Vc.4013G>TSubstitution - Missense
SPTBN4ENSG00000160460ENST00000392025p.T1161Tc.3483A>CSubstitution - coding silent
SLC4A10ENSG00000144290ENST00000375514p.S739Sc.2217C>ASubstitution - coding silent
TSKSENSG00000126467ENST00000358830p.G110Dc.329G>ASubstitution - Missense
NRP2ENSG00000118257ENST00000540841p.R405Kc.1214G>ASubstitution - Missense
ASPSCR1ENSG00000169696ENST00000580534p.S443Cc.1328C>GSubstitution - Missense
ATG4BENSG00000168397ENST00000474739p.?c.915+9C>TUnknown
SH2D3CENSG00000095370ENST00000373276p.R305Lc.914G>TSubstitution - Missense
EVC2ENSG00000173040ENST00000344408p.G1269Vc.3806G>TSubstitution - Missense
LAMB4ENSG00000091128ENST00000414450p.A555Tc.1663G>ASubstitution - Missense
ENST00000359760p.G175Gc.525G>ASubstitution - coding silent
SGIP1ENSG00000118473ENST00000371039p.P239Qc.716C>ASubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.V663Ic.1987G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.E1423Kc.4267G>ASubstitution - Missense
SMARCA4ENSG00000127616ENST00000358026p.E861Kc.2581G>ASubstitution - Missense
DYSFENSG00000135636ENST00000258104p.?c.856-1G>AUnknown
CXCL12ENSG00000107562ENST00000395794p.I124Ic.372C>ASubstitution - coding silent
ENST00000345581p.T199Tc.597T>ASubstitution - coding silent
NM_152608.2p.H149Yc.445C>TSubstitution - Missense
OR51F2ENSG00000176925ENST00000322110p.T254Tc.762C>GSubstitution - coding silent
CDHR1ENSG00000148600ENST00000372117p.T525Nc.1574C>ASubstitution - Missense
HSD11B1ENSG00000117594ENST00000367028p.L243Vc.727C>GSubstitution - Missense
ADIPOR2ENSG00000006831ENST00000357103p.C161Fc.482G>TSubstitution - Missense
DNAJC16ENSG00000116138ENST00000375847p.S264Cc.791C>GSubstitution - Missense
OR4B1ENSG00000175619ENST00000309562p.I294fs*3c.882delCDeletion - Frameshift
OR52R1ENSG00000176937ENST00000380382p.S325Yc.974C>ASubstitution - Missense
GOLGA3ENSG00000090615ENST00000545875p.E349Qc.1045G>CSubstitution - Missense
RERGLENSG00000111404ENST00000229002p.V121Fc.361G>TSubstitution - Missense
NM_017449p.?c.2136+5G>TUnknown
NM_017635.3p.A163fs*50c.487delGDeletion - Frameshift
PRPF18ENSG00000165630ENST00000378572p.A130Ac.390C>TSubstitution - coding silent
KRT5ENSG00000186081ENST00000252242p.A555Sc.1663G>TSubstitution - Missense
ZDHHC6ENSG00000023041ENST00000369405p.E283Kc.847G>ASubstitution - Missense
EEA1ENSG00000102189ENST00000322349p.?c.2967+9A>GUnknown
RPS6KB2ENSG00000175634ENST00000312629p.D372Hc.1114G>CSubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.Q2383*c.7147C>TSubstitution - Nonsense
RPAP3ENSG00000005175ENST00000005386p.S350Cc.1049C>GSubstitution - Missense
SU_LRRK2p.?c.5969+4A>CUnknown
RTN3ENSG00000133318ENST00000356000p.G29Vc.86G>TSubstitution - Missense
ENST00000265870p.L274Vc.820C>GSubstitution - Missense
ENST00000398860p.G1256Cc.3766G>TSubstitution - Missense
PBX1ENSG00000185630ENST00000420696p.T418Ac.1252A>GSubstitution - Missense
FCRL6ENSG00000181036ENST00000368106p.L156Fc.468G>TSubstitution - Missense
ENST00000417177p.V610Vc.1830G>TSubstitution - coding silent
WDFY4ENSG00000128815ENST00000265453p.N68Sc.203A>GSubstitution - Missense
YLPM1ENSG00000119596ENST00000238571p.R931Qc.2792G>ASubstitution - Missense
CLEC16AENSG00000038532ENST00000409790p.?c.729-10C>TUnknown
CITENSG00000122966ENST00000261833p.?c.2833-7C>GUnknown
METTL15ENSG00000169519ENST00000407364p.V382Vc.1146A>GSubstitution - coding silent
FAT3ENSG00000165323ENST00000409404p.S2936Rc.8808C>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.D2161Dc.6483C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000399634p.D2184Dc.6552C>TSubstitution - coding silent
FLG2ENSG00000143520ENST00000388718p.R107Rc.319C>ASubstitution - coding silent
MRP63ENSG00000173141ENST00000309594p.P13Sc.37C>TSubstitution - Missense
SNPHENSG00000101298ENST00000381873p.P288Lc.863C>TSubstitution - Missense
C1orf173ENSG00000178965ENST00000326665p.V178Lc.532G>CSubstitution - Missense
NOL9ENSG00000162408ENST00000377705p.?c.1825+9G>CUnknown
RPA2ENSG00000117748ENST00000373912p.P176Pc.528C>TSubstitution - coding silent
MDH1BENSG00000138400ENST00000374412p.V253Vc.759C>TSubstitution - coding silent
COL5A2ENSG00000204262ENST00000374866p.R572Lc.1715G>TSubstitution - Missense
ALKBH5ENSG00000091542ENST00000399138p.K78Mc.233A>TSubstitution - Missense
LRCH2ENSG00000130224ENST00000317135p.H684Hc.2052T>CSubstitution - coding silent
LANCL1ENSG00000115365ENST00000233714p.E191Gc.572A>GSubstitution - Missense
ENST00000356127p.H2936Nc.8806C>ASubstitution - Missense
TTNENSG00000155657ENST00000360870p.H2936Nc.8806C>ASubstitution - Missense
NM_032217.3p.G1160Wc.3478G>TSubstitution - Missense
LPCAT2ENSG00000087253ENST00000262134p.R180Rc.540G>TSubstitution - coding silent
COL1A2ENSG00000164692ENST00000297268p.N723Ic.2168A>TSubstitution - Missense
ANKIB1ENSG00000001629ENST00000265742p.R657Rc.1971G>TSubstitution - coding silent
ENST00000356127p.T31787Sc.95359A>TSubstitution - Missense
TPX2ENSG00000088325ENST00000300403p.V226Lc.676G>TSubstitution - Missense
AURKBENSG00000178999ENST00000585124p.K194Nc.582G>TSubstitution - Missense
ENST00000354939p.A664Ac.1992A>GSubstitution - coding silent
NM_206943.1p.R1079Tc.3236G>CSubstitution - Missense
ANK1ENSG00000029534ENST00000265709p.V69fs*4c.205_206insGInsertion - Frameshift
SLC5A7ENSG00000115665ENST00000264047p.V387Vc.1161G>TSubstitution - coding silent
HIVEP2ENSG00000010818ENST00000012134p.G635Wc.1903G>TSubstitution - Missense
ZIC1ENSG00000152977ENST00000282928p.A59Dc.176C>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.Q29Pc.86A>CSubstitution - Missense
ATP2C1ENSG00000017260ENST00000393221p.G472Cc.1414G>TSubstitution - Missense
SP100ENSG00000067066ENST00000264052p.A740Vc.2219C>TSubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.?c.2531-10C>AUnknown
ASIC4ENSG00000072182ENST00000358078p.M347Rc.1040T>GSubstitution - Missense
ENSG00000204850ENST00000377652p.W141*c.422G>ASubstitution - Nonsense
UBR2ENSG00000024048ENST00000372903p.S285Sc.855A>CSubstitution - coding silent
CLIP2ENSG00000106665ENST00000361545p.S587Sc.1761G>ASubstitution - coding silent
COMPENSG00000105664ENST00000222271p.G148Rc.442G>ASubstitution - Missense
CLGNENSG00000153132ENST00000325617p.A465Pc.1393G>CSubstitution - Missense
DRD3ENSG00000151577ENST00000383673p.P200Tc.598C>ASubstitution - Missense
MAP4ENSG00000047849ENST00000360240p.E698Qc.2092G>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.T1307Tc.3921C>TSubstitution - coding silent
IKBKAPENSG00000070061ENST00000374647p.A1053Sc.3157G>TSubstitution - Missense
DSTENSG00000151914ENST00000370765p.T614Tc.1842C>GSubstitution - coding silent
PLCD3ENSG00000161714ENST00000322765p.G451Wc.1351G>TSubstitution - Missense
CHSY3ENSG00000198108ENST00000305031p.V358Fc.1072G>TSubstitution - Missense
ISCA1ENSG00000135070ENST00000375991p.S73Cc.218C>GSubstitution - Missense
PTPRDENSG00000153707ENST00000355233p.M130Ic.390G>TSubstitution - Missense
PCDHA4ENSG00000204967ENST00000378125p.E311*c.931G>TSubstitution - Nonsense
NF1ENSG00000196712ENST00000358273p.E2692Kc.8074G>ASubstitution - Missense
MMS22LENSG00000146263ENST00000275053p.G44Ec.131G>ASubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.R553Lc.1658G>TSubstitution - Missense
TAAR6ENSG00000146383ENST00000275198p.G171Ac.512G>CSubstitution - Missense
BACH2ENSG00000112182ENST00000257749p.G534Vc.1601G>TSubstitution - Missense
SUN3ENSG00000164744ENST00000395572p.T308Tc.924A>GSubstitution - coding silent
PCDHAC1ENSG00000248383ENST00000253807p.V114Fc.340G>TSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.S211*c.632C>ASubstitution - Nonsense
PCDHA1ENSG00000204970ENST00000378133p.L642Wc.1925T>GSubstitution - Missense
AIFM3ENSG00000183773ENST00000399167p.F282Fc.846C>TSubstitution - coding silent
TANKENSG00000136560ENST00000259075p.?c.1102-10T>CUnknown
GALNT13ENSG00000144278ENST00000392825p.R286Mc.857G>TSubstitution - Missense
NCOA3ENSG00000124151ENST00000371998p.?c.357+4A>TUnknown
KIF5CENSG00000168280ENST00000435030p.?c.2211-9C>GUnknown
SENP2ENSG00000163904ENST00000296257p.G196Cc.586G>TSubstitution - Missense
SLC44A4ENSG00000204385ENST00000229729p.F140Lc.420C>GSubstitution - Missense
NLNENSG00000123213ENST00000380985p.G615Dc.1844G>ASubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.P2706fs*13c.8114delCDeletion - Frameshift
ASTN2ENSG00000148219ENST00000361209p.Q804Ec.2410C>GSubstitution - Missense
OPA1ENSG00000198836ENST00000361510p.?c.1608+5G>TUnknown
ENST00000326910p.F17Ic.49T>ASubstitution - Missense
EEF1GENSG00000254772ENST00000378019p.?c.1305+3G>TUnknown
OR52J3ENSG00000205495ENST00000380370p.T241Tc.723G>CSubstitution - coding silent
MYPNENSG00000138347ENST00000373675p.H226Nc.676C>ASubstitution - Missense
TPM1ENSG00000140416ENST00000403994p.D157Hc.469G>CSubstitution - Missense
USH2AENSG00000042781ENST00000366942p.R334Lc.1001G>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.A2456Ac.7368G>CSubstitution - coding silent
PTCHD2ENSG00000204624ENST00000389575p.F311Fc.933C>TSubstitution - coding silent
TMPRSS3ENSG00000160183ENST00000380399p.C326*c.978C>ASubstitution - Nonsense
EP400ENSG00000183495ENST00000333577p.Q646fs*36c.1937delADeletion - Frameshift
SLC1A6ENSG00000105143ENST00000601761p.L71Lc.213C>GSubstitution - coding silent
ZEB1ENSG00000148516ENST00000320985p.Q467Ec.1399C>GSubstitution - Missense
ZNF37AENSG00000075407ENST00000361085p.G63Cc.187G>TSubstitution - Missense
LDB3ENSG00000122367ENST00000372056p.R165Rc.493C>ASubstitution - coding silent
ANXA7ENSG00000138279ENST00000372919p.L376Lc.1128G>CSubstitution - coding silent
CACNA2D4ENSG00000151062ENST00000382722p.D118Hc.352G>CSubstitution - Missense
OR10K2ENSG00000180708ENST00000314902p.V4Vc.12C>ASubstitution - coding silent
NAV3ENSG00000067798ENST00000397909p.A2272Ac.6816A>CSubstitution - coding silent
ADAMTSL3ENSG00000156218ENST00000286744p.A1515Ac.4545C>TSubstitution - coding silent
C2CD3ENSG00000168014ENST00000334126p.S70Lc.209C>TSubstitution - Missense
MYO7AENSG00000137474ENST00000409709p.I1575Mc.4725C>GSubstitution - Missense
RNASE8ENSG00000173431ENST00000308227p.T61Tc.183A>TSubstitution - coding silent
OR10G3ENSG00000169208ENST00000303532p.P53Tc.157C>ASubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.P608Ac.1822C>GSubstitution - Missense
ACSL5ENSG00000197142ENST00000356116p.V521Fc.1561G>TSubstitution - Missense
SUFUENSG00000107882ENST00000369902p.Q184Hc.552G>TSubstitution - Missense
ENST00000329336p.P32Pc.96T>CSubstitution - coding silent
PCENSG00000173599ENST00000393955p.A227fs*70c.678delCDeletion - Frameshift
ZNF215ENSG00000149054ENST00000278319p.Q33Hc.99G>TSubstitution - Missense
RGS4ENSG00000117152ENST00000421743p.M116Vc.346A>GSubstitution - Missense
CNTN5ENSG00000149972ENST00000528682p.L254Ic.760C>ASubstitution - Missense
NM_013266.1p.?c.843+10G>AUnknown
MTF1ENSG00000188786ENST00000373036p.M567Ic.1701G>TSubstitution - Missense
ENST00000420314p.W895Lc.2684G>TSubstitution - Missense
NPAP1ENSG00000185823ENST00000329468p.L439Mc.1315C>ASubstitution - Missense
TJP1ENSG00000104067ENST00000346128p.Y1199Fc.3596A>TSubstitution - Missense
TPH1ENSG00000129167ENST00000250018p.S113Ac.337T>GSubstitution - Missense
OCA2ENSG00000104044ENST00000354638p.N533Kc.1599C>ASubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.R1458Rc.4374G>ASubstitution - coding silent
ZNF687ENSG00000143373ENST00000324048p.L396Lc.1188G>ASubstitution - coding silent
CDC42BPGENSG00000171219ENST00000342711p.Q1180Hc.3540G>TSubstitution - Missense
OLAHENSG00000152463ENST00000378225p.K49*c.145A>TSubstitution - Nonsense
LAYNENSG00000204381ENST00000375614p.F47Fc.141C>TSubstitution - coding silent
OGDHLENSG00000197444ENST00000374103p.K900Kc.2700G>ASubstitution - coding silent
ISM2ENSG00000100593ENST00000342219p.Q469Kc.1405C>ASubstitution - Missense
ANKK1ENSG00000170209ENST00000303941p.S111Sc.333C>TSubstitution - coding silent
WDR47ENSG00000085433ENST00000369965p.Y666Cc.1997A>GSubstitution - Missense
SYTL2ENSG00000137501ENST00000316356p.?c.390-9C>TUnknown
FAT3ENSG00000165323ENST00000298047p.S1142Rc.3426C>ASubstitution - Missense
THAP2ENSG00000173451ENST00000308086p.R164Rc.492A>CSubstitution - coding silent
FRMD6ENSG00000139926ENST00000344768p.L313Fc.937C>TSubstitution - Missense
BICD1ENSG00000151746ENST00000281474p.N240Nc.720T>CSubstitution - coding silent
UBAP2LENSG00000143569ENST00000361546p.?c.2579-2A>TUnknown
CACNA1CENSG00000151067ENST00000344100p.D2154Dc.6462C>TSubstitution - coding silent
ADORA1ENSG00000163485ENST00000309502p.N147Kc.441C>ASubstitution - Missense
ESR2ENSG00000140009ENST00000341099p.?c.652+1G>AUnknown
IL23RENSG00000162594ENST00000347310p.D479Yc.1435G>TSubstitution - Missense
ENST00000315089p.F325Fc.975C>TSubstitution - coding silent
SMAD3ENSG00000166949ENST00000327367p.S251Lc.752C>TSubstitution - Missense
MINK1ENSG00000141503ENST00000355280p.T1256Nc.3767C>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S1779*c.5336C>GSubstitution - Nonsense
HOXB2ENSG00000173917ENST00000330070p.R205Rc.613C>ASubstitution - coding silent
ENST00000435384p.N868Nc.2604C>TSubstitution - coding silent
LENG9ENSG00000182909ENST00000333834p.P368Tc.1102C>ASubstitution - Missense
NM_019888.2p.I163Ic.489C>TSubstitution - coding silent
NCOA6ENSG00000198646ENST00000374796p.L1616Lc.4848G>ASubstitution - coding silent
SOGA1ENSG00000149639ENST00000237536p.Q742Rc.2225A>GSubstitution - Missense
CADPSENSG00000163618ENST00000283269p.V721Ic.2161G>ASubstitution - Missense
C16orf89ENSG00000153446ENST00000350219p.G102Ec.305G>ASubstitution - Missense
SPATC1LENSG00000160284ENST00000291672p.S164Lc.491C>TSubstitution - Missense
CNTN3ENSG00000113805ENST00000263665p.G539Gc.1617G>TSubstitution - coding silent
DTNAENSG00000134769ENST00000269190p.?c.1665+8C>AUnknown
KRTAP26-1ENSG00000197683ENST00000360542p.P155Pc.465C>TSubstitution - coding silent
TMEM156ENSG00000121895ENST00000381938p.H160Hc.480T>CSubstitution - coding silent
QRICH1ENSG00000198218ENST00000395443p.V268Lc.802G>TSubstitution - Missense
NM_016507p.P688Sc.2062C>TSubstitution - Missense
XM_086725.2p.S24Yc.71C>ASubstitution - Missense
ANKRD62ENSG00000181626ENST00000314074p.I33Ic.99C>TSubstitution - coding silent
ST8SIA3ENSG00000177511ENST00000324000p.G14Wc.40G>TSubstitution - Missense
MINAENSG00000170854ENST00000360258p.L65Lc.195C>TSubstitution - coding silent
CTDNEP1ENSG00000175826ENST00000318988p.E70Ec.210G>ASubstitution - coding silent
CCSER1ENSG00000184305ENST00000432775p.G5Vc.14G>TSubstitution - Missense
M1APENSG00000159374ENST00000290536p.S409fs*44c.1224delCDeletion - Frameshift
TSSK1BENSG00000212122ENST00000390666p.A4Tc.10G>ASubstitution - Missense
KLHL40ENSG00000157119ENST00000287777p.E371*c.1111G>TSubstitution - Nonsense
GRM1ENSG00000152822ENST00000282753p.T1146Kc.3437C>ASubstitution - Missense
EZRENSG00000092820ENST00000367075p.F583Fc.1749C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.G8029Vc.24086G>TSubstitution - Missense
NPR3ENSG00000113389ENST00000265074p.Y316Nc.946T>ASubstitution - Missense
KLHL30ENSG00000168427ENST00000409223p.?c.1151-6C>AUnknown
UBR2ENSG00000024048ENST00000372899p.S285Sc.855A>CSubstitution - coding silent
CLIP2ENSG00000106665ENST00000223398p.S622Sc.1866G>ASubstitution - coding silent
PDIA5ENSG00000065485ENST00000316218p.V339Vc.1017C>TSubstitution - coding silent
TSEN2ENSG00000154743ENST00000284995p.R187Lc.560G>TSubstitution - Missense
THSD7BENSG00000144229ENST00000272643p.R121Cc.361C>TSubstitution - Missense
GPR39ENSG00000183840ENST00000329321p.L232Lc.696C>TSubstitution - coding silent
MED12ENSG00000184634ENST00000374080p.R296Lc.887G>TSubstitution - Missense
NM_138737.1p.Y123Cc.368A>GSubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.F2584Yc.7751T>ASubstitution - Missense
TRAPPC3LENSG00000173626ENST00000368602p.L145Fc.435G>TSubstitution - Missense
KLHL10ENSG00000161594ENST00000293303p.V398Ec.1193T>ASubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.M130Ic.390G>TSubstitution - Missense
SLC8A1ENSG00000183023ENST00000403092p.R5Rc.15G>TSubstitution - coding silent
HDAC5ENSG00000108840ENST00000393622p.T749Tc.2247C>ASubstitution - coding silent
SPAG9ENSG00000008294ENST00000357122p.A466Pc.1396G>CSubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.R846Sc.2536C>ASubstitution - Missense
EPB41L2ENSG00000079819ENST00000368128p.Q393Lc.1178A>TSubstitution - Missense
PEX12ENSG00000108733ENST00000225873p.S116Sc.348T>CSubstitution - coding silent
BCHEENSG00000114200ENST00000264381p.T485Kc.1454C>ASubstitution - Missense
PCDHB4ENSG00000081818ENST00000194152p.T395Nc.1184C>ASubstitution - Missense
SLC6A7ENSG00000011083ENST00000230671p.S284Tc.850T>ASubstitution - Missense
PCDHGA1ENSG00000204956ENST00000378105p.T86Tc.258C>ASubstitution - coding silent
METENSG00000105976ENST00000318493p.?c.1201-3C>AUnknown
HIST1H2AMENSG00000233224ENST00000359611p.E42Vc.125A>TSubstitution - Missense
LAMB4ENSG00000091128ENST00000205386p.A555Tc.1663G>ASubstitution - Missense
TANC1ENSG00000115183ENST00000263635p.G1234Vc.3701G>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000514591p.R31Lc.92G>TSubstitution - Missense
HDAC9ENSG00000048052ENST00000405010p.N249Ic.746A>TSubstitution - Missense
HYDINENSG00000157423ENST00000393550p.A738Sc.2212G>TSubstitution - Missense
RBBP6ENSG00000122257ENST00000319715p.P1369Ac.4105C>GSubstitution - Missense
RIMS4ENSG00000101098ENST00000372851p.G128Cc.382G>TSubstitution - Missense
NM_139056.1p.P849Pc.2547G>ASubstitution - coding silent
WDR17ENSG00000150627ENST00000280190p.T155Tc.465C>TSubstitution - coding silent
UNC5AENSG00000113763ENST00000329542p.V239Ic.715G>ASubstitution - Missense
CTNNA3ENSG00000183230ENST00000545309p.?c.843+10G>AUnknown
SCN1AENSG00000144285ENST00000375405p.T1622Sc.4864A>TSubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.P1314Rc.3941C>GSubstitution - Missense
HOXD13ENSG00000128714ENST00000392539p.N293Kc.879C>ASubstitution - Missense
VWA5B1ENSG00000158816ENST00000375083p.T21Nc.62C>ASubstitution - Missense
SLC45A1ENSG00000162426ENST00000377479p.L229Lc.687G>TSubstitution - coding silent
THADAENSG00000115970ENST00000330266p.L129Vc.385C>GSubstitution - Missense
AIFM3ENSG00000183773ENST00000405089p.F288Fc.864C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.G7641Wc.22921G>TSubstitution - Missense
DCAF4L2ENSG00000176566ENST00000319675p.R73Qc.218G>ASubstitution - Missense
RXFP2ENSG00000133105ENST00000298386p.P394Pc.1182C>ASubstitution - coding silent
MYCBP2ENSG00000005810ENST00000407578p.E3139Ec.9417G>ASubstitution - coding silent
CNTN6ENSG00000134115ENST00000446702p.N625Kc.1875C>ASubstitution - Missense
PLXNA2ENSG00000076356ENST00000367033p.Q1689Lc.5066A>TSubstitution - Missense
DNAH14ENSG00000185842ENST00000445597p.E3422Qc.10264G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.S1141Cc.3422C>GSubstitution - Missense
HECTD4ENSG00000173064ENST00000377560p.K3753Tc.11258A>CSubstitution - Missense
LBRENSG00000143815ENST00000272163p.Q604*c.1810C>TSubstitution - Nonsense
AGLENSG00000162688ENST00000370163p.G411Cc.1231G>TSubstitution - Missense
ARHGEF11ENSG00000132694ENST00000368194p.?c.1799-1G>TUnknown
OR10D3ENSG00000197309ENST00000318666p.V258Vc.774C>ASubstitution - coding silent
PYHIN1ENSG00000163564ENST00000392254p.T74Ac.220A>GSubstitution - Missense
TAF5LENSG00000135801ENST00000258281p.A455Sc.1363G>TSubstitution - Missense
TMTC3ENSG00000139324ENST00000266712p.Q255Rc.764A>GSubstitution - Missense
ENST00000368148p.R563Wc.1687C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.A3127Ac.9381G>TSubstitution - coding silent
TDRD9ENSG00000156414ENST00000409874p.D897Nc.2689G>ASubstitution - Missense
GOLGA6L19ENSG00000259243ENST00000557886p.N167Sc.500A>GSubstitution - Missense
NLRP3ENSG00000162711ENST00000391828p.A228fs*12c.681delGDeletion - Frameshift
PLCH2ENSG00000149527ENST00000378486p.S523Cc.1568C>GSubstitution - Missense
CEP170ENSG00000143702ENST00000366543p.E1155*c.3463G>TSubstitution - Nonsense
OTOGENSG00000188162ENST00000399397p.G515Gc.1545G>TSubstitution - coding silent
CSMD2ENSG00000121904ENST00000241312p.?c.6716+10G>CUnknown
CSMD2ENSG00000121904ENST00000373381p.?c.6710+10G>CUnknown
NM_005056.1p.V291Fc.871G>TSubstitution - Missense
ENST00000300167p.S440Yc.1319C>ASubstitution - Missense
HRNRENSG00000197915ENST00000368801p.A1094Dc.3281C>ASubstitution - Missense
DNAJC9ENSG00000213551ENST00000372950p.Q114Ec.340C>GSubstitution - Missense
PCNXL3ENSG00000197136ENST00000355703p.E751Kc.2251G>ASubstitution - Missense
SF1ENSG00000168066ENST00000334944p.L203Lc.609T>GSubstitution - coding silent
ADAMTS15ENSG00000166106ENST00000299164p.?c.1259-6C>GUnknown
SNX29ENSG00000048471ENST00000306030p.R298Qc.893G>ASubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.Q5398Qc.16194A>GSubstitution - coding silent
SPAG6ENSG00000077327ENST00000376603p.?c.1542+2T>AUnknown
PDZD3ENSG00000172367ENST00000322712p.V300Vc.900G>TSubstitution - coding silent
POU2F3ENSG00000137709ENST00000260264p.P93Lc.278C>TSubstitution - Missense
CARSENSG00000110619ENST00000380525p.K187Nc.561G>CSubstitution - Missense
TSR3ENSG00000007520ENST00000007390p.V121Fc.361G>TSubstitution - Missense
C10orf128ENSG00000204161ENST00000474718p.L38Lc.114C>ASubstitution - coding silent
GLIPR1L1ENSG00000173401ENST00000312442p.P215Hc.644C>ASubstitution - Missense
ACSM2AENSG00000183747ENST00000396104p.?c.1509+3G>AUnknown
SHEENSG00000169291ENST00000304760p.V460Lc.1378G>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.Q796Lc.2387A>TSubstitution - Missense
TMEM132BENSG00000139364ENST00000299308p.L210Vc.628C>GSubstitution - Missense
FAT3ENSG00000165323ENST00000298047p.V948Vc.2844C>ASubstitution - coding silent
MRGPRX1ENSG00000170255ENST00000302797p.S139*c.416C>GSubstitution - Nonsense
PSMA6ENSG00000100902ENST00000261479p.E145Ec.435A>GSubstitution - coding silent
ENST00000355846p.S170Lc.509C>TSubstitution - Missense
PRLRENSG00000113494ENST00000382002p.W148Gc.442T>GSubstitution - Missense
SPTBENSG00000070182ENST00000542895p.K1422Nc.4266G>TSubstitution - Missense
PLEKHM3ENSG00000178385ENST00000427836p.H543Hc.1629C>TSubstitution - coding silent
IGSF1ENSG00000147255ENST00000361420p.?c.1751-8G>AUnknown
ENST00000429478p.V1673Vc.5019G>CSubstitution - coding silent
DIRC1ENSG00000174325ENST00000308100p.I41Mc.123A>GSubstitution - Missense
ENST00000356127p.L2935Lc.8805C>ASubstitution - coding silent
LSM14AENSG00000257103ENST00000544216p.?c.782-7A>TUnknown
SYT3ENSG00000213023ENST00000338916p.L117Lc.351G>TSubstitution - coding silent
CD33ENSG00000105383ENST00000262262p.L15Mc.43C>ASubstitution - Missense
TAF7LENSG00000102387ENST00000372907p.G211Ec.632G>ASubstitution - Missense
MCM8ENSG00000125885ENST00000265187p.L412Lc.1236C>TSubstitution - coding silent
CDH26ENSG00000124215ENST00000348616p.G484Vc.1451G>TSubstitution - Missense
AKAP10ENSG00000108599ENST00000225737p.G452*c.1354G>TSubstitution - Nonsense
POLR1EENSG00000137054ENST00000377798p.S221Cc.662C>GSubstitution - Missense
BRWD1ENSG00000185658ENST00000342449p.?c.3320+5G>TUnknown
TRAPPC8ENSG00000153339ENST00000283351p.R369Sc.1107G>TSubstitution - Missense
TSPAN16ENSG00000130167ENST00000316737p.V193Gc.578T>GSubstitution - Missense
NM_021628.1p.Q676*c.2026C>TSubstitution - Nonsense
MRC2ENSG00000011028ENST00000303375p.R754Kc.2261G>ASubstitution - Missense
BRD7ENSG00000166164ENST00000394688p.N294Kc.882T>ASubstitution - Missense
PARK2ENSG00000185345ENST00000366898p.V36Fc.106G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.G7958Wc.23872G>TSubstitution - Missense
COL6A5ENSG00000172752ENST00000265379p.E2092Kc.6274G>ASubstitution - Missense
PROCENSG00000115718ENST00000234071p.K70Mc.209A>TSubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.R293Lc.878G>TSubstitution - Missense
ENST00000451531_v68p.D781fs*25c.2341delGDeletion - Frameshift
FBRSENSG00000156860ENST00000356166p.?c.706-3C>TUnknown
ZC3H4ENSG00000130749ENST00000253048p.P642Pc.1926T>GSubstitution - coding silent
RELNENSG00000189056ENST00000343529p.T582Tc.1746G>ASubstitution - coding silent
TRIM50ENSG00000146755ENST00000333149p.R242Lc.725G>TSubstitution - Missense
BCL11AENSG00000119866ENST00000356842p.S679Pc.2035T>CSubstitution - Missense
PFKFB1ENSG00000158571ENST00000375006p.?c.516+6G>TUnknown
EPHB1ENSG00000154928ENST00000398015p.V550Vc.1650C>ASubstitution - coding silent
LCTENSG00000115850ENST00000264162p.R447Lc.1340G>TSubstitution - Missense
GAP43ENSG00000172020ENST00000305124p.E83Kc.247G>ASubstitution - Missense
CDH7ENSG00000081138ENST00000323011p.S137Sc.411G>TSubstitution - coding silent
PDE8BENSG00000113231ENST00000264917p.Q342Kc.1024C>ASubstitution - Missense
ADAMTSL1ENSG00000178031ENST00000380548p.Q1116Kc.3346C>ASubstitution - Missense
DHX15ENSG00000109606ENST00000336812p.?c.72-3T>AUnknown
TAF2ENSG00000064313ENST00000378164p.D1053Hc.3157G>CSubstitution - Missense
ZNF462ENSG00000148143ENST00000277225p.C164Yc.491G>ASubstitution - Missense
SNTB1ENSG00000172164ENST00000395601p.L326Fc.976C>TSubstitution - Missense
ENST00000376458p.R107*c.319C>TSubstitution - Nonsense
CACNA1GENSG00000006283ENST00000359106p.C1608Fc.4823G>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000416767p.G290Vc.869G>TSubstitution - Missense
SPAG9ENSG00000008294ENST00000262013p.A480Pc.1438G>CSubstitution - Missense
SIX2ENSG00000170577ENST00000303077p.V257Vc.771G>TSubstitution - coding silent
RNF135ENSG00000181481ENST00000328381p.D337Hc.1009G>CSubstitution - Missense
NAALADL2ENSG00000177694ENST00000454872p.L770Fc.2310G>CSubstitution - Missense
ZNF571ENSG00000180479ENST00000328550p.S67Sc.201A>TSubstitution - coding silent
PTPRDENSG00000153707ENST00000381196p.M130Ic.390G>TSubstitution - Missense
PTPRDENSG00000153707ENST00000537002p.M130Ic.390G>TSubstitution - Missense
SLC4A2ENSG00000164889ENST00000485713p.K412Nc.1236G>TSubstitution - Missense
PCDHB6ENSG00000113211ENST00000231136p.R221Gc.661C>GSubstitution - Missense
MUC21ENSG00000204544ENST00000376296p.A177Ac.531C>TSubstitution - coding silent
OXR1ENSG00000164830ENST00000442977p.A648Vc.1943C>TSubstitution - Missense
DPP6ENSG00000130226ENST00000406326p.E324*c.970G>TSubstitution - Nonsense
HDAC9ENSG00000048052ENST00000441542p.R139Mc.416G>TSubstitution - Missense
CRMP1ENSG00000072832ENST00000324989p.R679Rc.2037C>GSubstitution - coding silent
SCN2AENSG00000136531ENST00000375437p.M1241Tc.3722T>CSubstitution - Missense
SDK1ENSG00000146555ENST00000404826p.D1604Dc.4812C>TSubstitution - coding silent
MAGEC3ENSG00000165509ENST00000298296p.Q541Hc.1623G>TSubstitution - Missense
LPIN3ENSG00000132793ENST00000373257p.S347Ic.1040G>TSubstitution - Missense
GCM1ENSG00000137270ENST00000259803p.D31Yc.91G>TSubstitution - Missense
MMP19ENSG00000123342ENST00000394182p.P34Pc.102G>TSubstitution - coding silent
CYP2C8ENSG00000138115ENST00000539050p.D102Nc.304G>ASubstitution - Missense
ZNF423ENSG00000102935ENST00000561874p.Q51Qc.153A>GSubstitution - coding silent
ESR2ENSG00000140009ENST00000557772p.Q418Hc.1254G>CSubstitution - Missense
ACTN2ENSG00000077522ENST00000542672p.E310Dc.930G>CSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.A4688Ac.14064C>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.E2767Vc.8300A>TSubstitution - Missense
DNAJC6ENSG00000116675ENST00000371069p.?c.2038+10T>AUnknown
LEPRENSG00000116678ENST00000371059p.D45Gc.134A>GSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.D1014Nc.3040G>ASubstitution - Missense
CTPS1ENSG00000171793ENST00000543104p.S238*c.713C>GSubstitution - Nonsense
TMPRSS3ENSG00000160183ENST00000398397p.C242*c.726C>ASubstitution - Nonsense
PTOV1ENSG00000104960ENST00000221557p.V213Vc.639C>GSubstitution - coding silent
C1QTNF6ENSG00000133466ENST00000255836p.R119Pc.356G>CSubstitution - Missense
AIFM3ENSG00000183773ENST00000335375p.F270Fc.810C>TSubstitution - coding silent
UTYENSG00000183878ENST00000382896p.P913Sc.2737C>TSubstitution - Missense
UNC13BENSG00000198722ENST00000396787p.E779*c.2335G>TSubstitution - Nonsense
SLC12A9ENSG00000146828ENST00000540482p.C130Fc.389G>TSubstitution - Missense
NR1H4ENSG00000012504ENST00000548884p.T219Tc.657C>TSubstitution - coding silent
CYLC1ENSG00000183035ENST00000329312p.P631Hc.1892C>ASubstitution - Missense
KDM5AENSG00000073614ENST00000399788p.V291Fc.871G>TSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.A121Ec.362C>ASubstitution - Missense
SCAF11ENSG00000139218ENST00000369367p.A1430fs*8c.4288delGDeletion - Frameshift
PDCD11ENSG00000148843ENST00000369797p.V1088Vc.3264C>TSubstitution - coding silent
ENST00000438990p.G205Cc.613G>TSubstitution - Missense
ZNF365ENSG00000138311ENST00000395255p.S144Sc.432G>TSubstitution - coding silent
LMX1AENSG00000162761ENST00000367893p.G96Vc.287G>TSubstitution - Missense
ZNF362ENSG00000160094ENST00000373428p.M375Ic.1125G>ASubstitution - Missense
GDF10ENSG00000107623ENST00000224605p.P195Hc.584C>ASubstitution - Missense
CHID1ENSG00000177830ENST00000323541p.Y25Nc.73T>ASubstitution - Missense
NAALAD2ENSG00000077616ENST00000534061p.A193fs*11c.574_575insTInsertion - Frameshift
TMEM132CENSG00000181234ENST00000435159p.M154Tc.461T>CSubstitution - Missense
DDX11ENSG00000013573ENST00000542838p.?c.481-6G>TUnknown
ADARENSG00000160710ENST00000368474p.Q60Hc.180G>TSubstitution - Missense
ENST00000447890p.L314Lc.940C>TSubstitution - coding silent
TRIM66ENSG00000166436ENST00000299550p.Q688Ec.2062C>GSubstitution - Missense
PPP2R3CENSG00000092020ENST00000261475p.I373Lc.1117A>TSubstitution - Missense
OR2T6ENSG00000198104ENST00000355728p.C241Fc.722G>TSubstitution - Missense
SLC44A5ENSG00000137968ENST00000370859p.?c.740+6T>CUnknown
ENST00000240700p.G63Gc.189G>CSubstitution - coding silent
GLMNENSG00000174842ENST00000370360p.S330Cc.989C>GSubstitution - Missense
SKOR1ENSG00000188779ENST00000389002p.W236Cc.708G>TSubstitution - Missense
FBXO34ENSG00000178974ENST00000313833p.S509Rc.1527C>GSubstitution - Missense
CALCOCO2ENSG00000136436ENST00000258947p.?c.543+10C>TUnknown
NM_003319p.I2940Vc.8818A>GSubstitution - Missense
ENST00000300671p.D1513Hc.4537G>CSubstitution - Missense
ENST00000300671p.?c.3703-8G>AUnknown
ENST00000300671p.F984Lc.2950T>CSubstitution - Missense
LILRB1ENSG00000104972ENST00000396331p.G106Gc.318C>ASubstitution - coding silent
ENST00000399211p.A168Ac.504T>GSubstitution - coding silent
LILRA4ENSG00000239961ENST00000291759p.S433Yc.1298C>ASubstitution - Missense
SHMT1ENSG00000176974ENST00000316694p.?c.1282+4A>CUnknown
EXOC7ENSG00000182473ENST00000357231p.L171Mc.511T>ASubstitution - Missense
ZNFX1ENSG00000124201ENST00000396105p.G1232Ec.3695G>ASubstitution - Missense
SIGLEC1ENSG00000088827ENST00000202578p.R1262Pc.3785G>CSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.G44Vc.131G>TSubstitution - Missense
EXOC4ENSG00000131558ENST00000545148p.?c.1518-3C>TUnknown
FABP1ENSG00000163586ENST00000295834p.T64Tc.192G>ASubstitution - coding silent
WDR4ENSG00000160193ENST00000398208p.Q284Lc.851A>TSubstitution - Missense
ATP10DENSG00000145246ENST00000273859p.V902Fc.2704G>TSubstitution - Missense
PPLENSG00000118898ENST00000345988p.A843Ac.2529C>TSubstitution - coding silent
CACNB1ENSG00000067191ENST00000344140p.W454Sc.1361G>CSubstitution - Missense
EPB41L3ENSG00000082397ENST00000341928p.E928Vc.2783A>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.P2851Pc.8553T>ASubstitution - coding silent
ENSG00000257743ENST00000477922p.V1141Ec.3422T>ASubstitution - Missense
ZNF34ENSG00000196378ENST00000343459p.L210Lc.630C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.V29315Ec.87944T>ASubstitution - Missense
RPL17-C18orf32ENSG00000215472ENST00000577910p.E89Ec.267A>GSubstitution - coding silent
CIB4ENSG00000157884ENST00000288861p.S56Rc.168C>ASubstitution - Missense
SGOL2ENSG00000163535ENST00000357799p.D892fs*4c.2674_2678delGATAGDeletion - Frameshift
ING5ENSG00000168395ENST00000313552p.T52Tc.156G>TSubstitution - coding silent
NM_003319p.T25292Sc.75874A>TSubstitution - Missense
CIDECENSG00000187288ENST00000336832p.S7Fc.20C>TSubstitution - Missense
BIRC8ENSG00000163098ENST00000426466p.E162*c.484G>TSubstitution - Nonsense
FRAS1ENSG00000138759ENST00000264895p.E2165*c.6493G>TSubstitution - Nonsense
TNK2ENSG00000061938ENST00000381916p.R88Wc.262C>TSubstitution - Missense
NLRC4ENSG00000091106ENST00000404025p.S485Sc.1455C>ASubstitution - coding silent
CMBLENSG00000164237ENST00000296658p.F148Lc.444C>GSubstitution - Missense
ZNF460ENSG00000197714ENST00000360338p.H330Rc.989A>GSubstitution - Missense
ZNF460ENSG00000197714ENST00000360338p.E383Gc.1148A>GSubstitution - Missense
OR2Y1ENSG00000174339ENST00000307832p.R202Rc.604C>ASubstitution - coding silent
CDH8ENSG00000150394ENST00000577390p.G212Wc.634G>TSubstitution - Missense
IL18R1ENSG00000115604ENST00000233957p.V345Mc.1033G>ASubstitution - Missense
NM_003242p.P129fs*3c.380_381insGInsertion - Frameshift
FBXW7ENSG00000109670ENST00000281708p.D520Hc.1558G>CSubstitution - Missense
LHCGRENSG00000138039ENST00000294954p.E243Dc.729G>TSubstitution - Missense
COL12A1ENSG00000111799ENST00000322507p.R1212Lc.3635G>TSubstitution - Missense
HTR1BENSG00000135312ENST00000369947p.L91Lc.271C>TSubstitution - coding silent
PCDHGA12ENSG00000253159ENST00000252085p.H177Yc.529C>TSubstitution - Missense
ZNF713ENSG00000178665ENST00000429591p.L58Lc.174G>TSubstitution - coding silent
FAT2ENSG00000086570ENST00000261800p.G3596Cc.10786G>TSubstitution - Missense
AXLENSG00000167601ENST00000359092p.R55Wc.163C>TSubstitution - Missense
AXLENSG00000167601ENST00000301178p.W69*c.207G>ASubstitution - Nonsense
COA1ENSG00000106603ENST00000395879p.L15Mc.43C>ASubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.L718Lc.2152C>TSubstitution - coding silent
EPHA5ENSG00000145242ENST00000273854p.D160Yc.478G>TSubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.G313*c.937G>TSubstitution - Nonsense
POU6F2ENSG00000106536ENST00000403058p.L403Lc.1209G>TSubstitution - coding silent
GLI3ENSG00000106571ENST00000395925p.S421Fc.1262C>TSubstitution - Missense
NM_007181p.A613Gc.1838C>GSubstitution - Missense
DYRK1BENSG00000105204ENST00000593685p.H237Yc.709C>TSubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.?c.1585-5G>CUnknown
NEBENSG00000183091ENST00000427231p.G1446Cc.4336G>TSubstitution - Missense
ZNF335ENSG00000198026ENST00000322927p.F465Lc.1393T>CSubstitution - Missense
ELMO2ENSG00000062598ENST00000396391p.V217Lc.649G>TSubstitution - Missense
ZNF225ENSG00000256294ENST00000262894p.Q123*c.367C>TSubstitution - Nonsense
HTR3CENSG00000178084ENST00000318351p.K105Kc.315A>GSubstitution - coding silent
GAPVD1ENSG00000165219ENST00000394105p.S696Lc.2087C>TSubstitution - Missense
OLFML2AENSG00000185585ENST00000373580p.R571Gc.1711C>GSubstitution - Missense
DRD2ENSG00000149295ENST00000355319p.D30Yc.88G>TSubstitution - Missense
NFATC4ENSG00000100968ENST00000555453p.?c.2605+5_2605+6insGUnknown
IGSF9ENSG00000085552ENST00000368094p.P351fs*30c.1052delCDeletion - Frameshift
SCN1AENSG00000144285ENST00000423058p.F1822Lc.5466C>ASubstitution - Missense
ABCA12ENSG00000144452ENST00000389661p.L940Pc.2819T>CSubstitution - Missense
SLC4A10ENSG00000144290ENST00000415876p.S728Sc.2184C>ASubstitution - coding silent
SPAG9ENSG00000008294ENST00000505279p.A466Pc.1396G>CSubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.R358Qc.1073G>ASubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.F987Lc.2959T>CSubstitution - Missense
MAP2K7ENSG00000076984ENST00000545011p.S313Cc.938C>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.Q29Pc.86A>CSubstitution - Missense
MTUS1ENSG00000129422ENST00000381862p.P602Ac.1804C>GSubstitution - Missense
OLFML2AENSG00000185585ENST00000288815p.R357Gc.1069C>GSubstitution - Missense
SCN4AENSG00000007314ENST00000435607p.V127Mc.379G>ASubstitution - Missense
ZNF729ENSG00000196350ENST00000357491p.G132Cc.394G>TSubstitution - Missense
DDR2ENSG00000162733ENST00000367922p.R124Lc.371G>TSubstitution - Missense
SLC22A1ENSG00000175003ENST00000366963p.A80Tc.238G>ASubstitution - Missense
CDH18ENSG00000145526ENST00000507958p.D105Yc.313G>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313431p.R60Gc.178C>GSubstitution - Missense
LMO7ENSG00000136153ENST00000465261p.S634Fc.1901C>TSubstitution - Missense
MARCH7ENSG00000136536ENST00000259050p.E609Dc.1827G>CSubstitution - Missense
DLX5ENSG00000105880ENST00000222598p.G53fs*28c.158delGDeletion - Frameshift
USH2AENSG00000042781ENST00000307340p.A2519Pc.7555G>CSubstitution - Missense
UBE4BENSG00000130939ENST00000343090p.D744Yc.2230G>TSubstitution - Missense
TP53BP2ENSG00000143514ENST00000391878p.T616Ac.1846A>GSubstitution - Missense
COL11A1ENSG00000060718ENST00000358392p.E566Ec.1698G>ASubstitution - coding silent
NM_001004342.2p.G594Rc.1780G>ASubstitution - Missense
GGPS1ENSG00000152904ENST00000282841p.L176Vc.526C>GSubstitution - Missense
EPHB2ENSG00000133216ENST00000374627p.?c.2121+5G>TUnknown
CHD8ENSG00000100888ENST00000399982p.P1868Pc.5604C>TSubstitution - coding silent
TDRD9ENSG00000156414ENST00000339063p.F721Fc.2163C>TSubstitution - coding silent
FAM111AENSG00000166801ENST00000528737p.R500Cc.1498C>TSubstitution - Missense
MESP1ENSG00000166823ENST00000300057p.V52_A53insPSPVc.147_148ins12Insertion - In frame
PDE2AENSG00000186642ENST00000544570p.N835Ic.2504A>TSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.Y4842*c.14526T>ASubstitution - Nonsense
OR6A2ENSG00000184933ENST00000332601p.S98Cc.293C>GSubstitution - Missense
MYRFENSG00000124920ENST00000265460p.F1076Fc.3228C>TSubstitution - coding silent
SUPT16HENSG00000092201ENST00000216297p.I246Ic.738C>ASubstitution - coding silent
OXA1LENSG00000155463ENST00000285848p.L18Hc.53T>ASubstitution - Missense
OR2M3ENSG00000228198ENST00000456743p.T105Sc.313A>TSubstitution - Missense
AJAP1ENSG00000196581ENST00000378190p.A279Pc.835G>CSubstitution - Missense
RALGAPA1ENSG00000174373ENST00000307138p.E348Gc.1043A>GSubstitution - Missense
ENST00000456955p.G356Vc.1067G>TSubstitution - Missense
CNTN2ENSG00000184144ENST00000331830p.C306Yc.917G>ASubstitution - Missense
SLC2A5ENSG00000142583ENST00000377424p.H387fs*42c.1158delADeletion - Frameshift
RYR3ENSG00000198838ENST00000389232p.Q846Hc.2538A>TSubstitution - Missense
UGT3A1ENSG00000145626ENST00000274278p.F175fs*17c.522delTDeletion - Frameshift
IL7RENSG00000168685ENST00000303115p.V253Vc.759C>ASubstitution - coding silent
CEP128ENSG00000100629ENST00000281129p.Q574Ec.1720C>GSubstitution - Missense
NPHP4ENSG00000131697ENST00000378156p.A1048Ac.3144C>TSubstitution - coding silent
OR2T27ENSG00000187701ENST00000344889p.P268Rc.803C>GSubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.C1394*c.4182C>ASubstitution - Nonsense
TTNENSG00000155657ENST00000342992p.I29Tc.86T>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.N3911Kc.11733C>ASubstitution - Missense
MINK1ENSG00000141503ENST00000347992p.T1227Nc.3680C>ASubstitution - Missense
FAM120AENSG00000048828ENST00000277165p.Q840Hc.2520G>TSubstitution - Missense
SIGLEC1ENSG00000088827ENST00000344754p.R1262Pc.3785G>CSubstitution - Missense
KIAA1755ENSG00000149633ENST00000279024p.E272Qc.814G>CSubstitution - Missense
GNASENSG00000087460ENST00000371085p.M60Ic.180G>ASubstitution - Missense
NM_020856.1p.Y56Nc.166T>ASubstitution - Missense
RUNX1T1ENSG00000079102ENST00000436581p.S585Rc.1755C>ASubstitution - Missense
CCDC47ENSG00000108588ENST00000225726p.V241Lc.721G>TSubstitution - Missense
CSHL1ENSG00000204414ENST00000561003p.L41Lc.123C>GSubstitution - coding silent
APPBP2ENSG00000062725ENST00000083182p.A17Ac.51C>TSubstitution - coding silent
C16orf89ENSG00000153446ENST00000422873p.G102Ec.305G>ASubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.R3115Lc.9344G>TSubstitution - Missense
EPHB6ENSG00000106123ENST00000392957p.R499Rc.1495C>ASubstitution - coding silent
PLECENSG00000178209ENST00000436759p.G4227Vc.12680G>TSubstitution - Missense
GPC1ENSG00000063660ENST00000264039p.E72Dc.216G>CSubstitution - Missense
ENST00000356127p.H11769Rc.35306A>GSubstitution - Missense
GPR155ENSG00000163328ENST00000392551p.N700Yc.2098A>TSubstitution - Missense
LAMP5ENSG00000125869ENST00000246070p.A29Sc.85G>TSubstitution - Missense
SFRP1ENSG00000104332ENST00000220772p.G182Gc.546C>ASubstitution - coding silent
OTTHUMT00000056248.1p.W664Sc.1991G>CSubstitution - Missense
ADAM32ENSG00000197140ENST00000379907p.G129Rc.385G>ASubstitution - Missense
STRNENSG00000115808ENST00000263918p.L593Vc.1777C>GSubstitution - Missense
ENST00000405167p.V2803Ic.8407G>ASubstitution - Missense
IQSEC2ENSG00000124313ENST00000375365p.R917Cc.2749C>TSubstitution - Missense
GPR173ENSG00000184194ENST00000332582p.C116Yc.347G>ASubstitution - Missense
ISOC2ENSG00000063241ENST00000085068p.P118Pc.354C>TSubstitution - coding silent
GRM1ENSG00000152822ENST00000392299p.V519Vc.1557G>CSubstitution - coding silent
NFE2L3ENSG00000050344ENST00000056233p.E340Kc.1018G>ASubstitution - Missense
LPAENSG00000198670ENST00000316300p.P1542Lc.4625C>TSubstitution - Missense
ADAMTS12ENSG00000151388ENST00000504830p.N871Yc.2611A>TSubstitution - Missense
MAP7ENSG00000135525ENST00000354570p.V461Vc.1383G>TSubstitution - coding silent
TBC1D9BENSG00000197226ENST00000356834p.E152Qc.454G>CSubstitution - Missense
AGAP1ENSG00000157985ENST00000304032p.R696Rc.2088G>TSubstitution - coding silent
FLNAENSG00000196924ENST00000369850p.D662Dc.1986C>TSubstitution - coding silent
ENST00000272666p.?c.592+9C>AUnknown
POPDC2ENSG00000121577ENST00000468801p.G349Cc.1045G>TSubstitution - Missense
ACAD11ENSG00000240303ENST00000264990p.Q83Hc.249G>TSubstitution - Missense
ENST00000305663p.L90Lc.270C>GSubstitution - coding silent
POTEIENSG00000196834ENST00000451531p.D781fs*25c.2341delGDeletion - Frameshift
IL27ENSG00000197272ENST00000356897p.?c.204+10C>AUnknown
PFKFB4ENSG00000114268ENST00000232375p.V239Ic.715G>ASubstitution - Missense
BRWD3ENSG00000165288ENST00000373275p.P1335Pc.4005A>TSubstitution - coding silent
TAF1ENSG00000147133ENST00000276072p.G446Vc.1337G>TSubstitution - Missense
XM_293293.1p.G296Gc.888T>ASubstitution - coding silent
NM_001184p.D1071Yc.3211G>TSubstitution - Missense
GRIK2ENSG00000164418ENST00000318991p.M737Ic.2211G>TSubstitution - Missense
PCDH11YENSG00000099715ENST00000215473p.W1146Rc.3436T>ASubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.R382fs*2c.1143delGDeletion - Frameshift
SLC34A2ENSG00000157765ENST00000382051p.G79Gc.237G>ASubstitution - coding silent
ARMC4ENSG00000169126ENST00000434029p.L77Lc.231C>GSubstitution - coding silent
MTSS1ENSG00000170873ENST00000518547p.L175*c.524T>ASubstitution - Nonsense
XIRP2ENSG00000163092ENST00000295237p.N2577Nc.7731T>CSubstitution - coding silent
TGENSG00000042832ENST00000220616p.G828Vc.2483G>TSubstitution - Missense
ZNF687ENSG00000143373ENST00000368879p.E381Kc.1141G>ASubstitution - Missense
AGLENSG00000162688ENST00000361522p.G394Cc.1180G>TSubstitution - Missense
OR4C46ENSG00000185926ENST00000328188p.G168Cc.502G>TSubstitution - Missense
ARID5BENSG00000150347ENST00000309334p.D270Hc.808G>CSubstitution - Missense
ENST00000263817_v70p.L97Fc.291A>TSubstitution - Missense
CHRNA7ENSG00000175344ENST00000454250p.W118Lc.353G>TSubstitution - Missense
ESR2ENSG00000140009ENST00000557772p.?c.652+1G>AUnknown
VWA5B1ENSG00000158816ENST00000375083p.I126Ic.378C>TSubstitution - coding silent
GRIK3ENSG00000163873ENST00000373093p.A658Dc.1973C>ASubstitution - Missense
TNK2ENSG00000061938ENST00000316664p.R25Wc.73C>TSubstitution - Missense
WDR90ENSG00000161996ENST00000315764p.T285Tc.855G>ASubstitution - coding silent
PTPRTENSG00000196090ENST00000373184p.D795fs*54c.2382delCDeletion - Frameshift
ADAM23ENSG00000114948ENST00000374415p.M298fs*7c.894delGDeletion - Frameshift
SPAG9ENSG00000008294ENST00000505279p.?c.1635-7C>GUnknown
ZRANB3ENSG00000121988ENST00000536680p.R165Ic.494G>TSubstitution - Missense
PODXLENSG00000128567ENST00000537928p.V107Lc.319G>TSubstitution - Missense
COBLENSG00000106078ENST00000395542p.S1193Cc.3578C>GSubstitution - Missense
XM_498331.1p.S29Lc.86C>TSubstitution - Missense
CACNA1BENSG00000148408ENST00000277549p.P313Tc.937C>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.P2806Pc.8418T>ASubstitution - coding silent
ABCC11ENSG00000121270ENST00000356608p.A647Tc.1939G>ASubstitution - Missense
SMARCA4ENSG00000127616ENST00000429416p.E861Kc.2581G>ASubstitution - Missense
CAB39ENSG00000135932ENST00000258418p.Q338*c.1012C>TSubstitution - Nonsense
COL11A1ENSG00000060718ENST00000358392p.G1105Rc.3313G>CSubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.Q194Hc.582G>TSubstitution - Missense
EDNRBENSG00000136160ENST00000377211p.G80Cc.238G>TSubstitution - Missense
PCDH9ENSG00000184226ENST00000377865p.G397Cc.1189G>TSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.Y3062*c.9186C>ASubstitution - Nonsense
HOXC11ENSG00000123388ENST00000546378p.G162Cc.484G>TSubstitution - Missense
OR6C75ENSG00000187857ENST00000343399p.S241Cc.722C>GSubstitution - Missense
MIA3ENSG00000154305ENST00000344922p.A563Sc.1687G>TSubstitution - Missense
SU_OBSCN.1p.V8528Fc.25582G>TSubstitution - Missense
LRRC4CENSG00000148948ENST00000278198p.D318Gc.953A>GSubstitution - Missense
TSPAN18ENSG00000157570ENST00000340160p.Y56Yc.168C>TSubstitution - coding silent
LRP4ENSG00000134569ENST00000378623p.?c.4230-5C>TUnknown
MINPP1ENSG00000107789ENST00000371996p.?c.637+5delcUnknown
GOLGA3ENSG00000090615ENST00000456883p.E349Qc.1045G>CSubstitution - Missense
ENST00000368148p.R887fs*4c.2657_2658insTInsertion - Frameshift
ZP4ENSG00000116996ENST00000366570p.D461Nc.1381G>ASubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.V3980Dc.11939T>ASubstitution - Missense
EEF1GENSG00000254772ENST00000329251p.?c.1155+3G>TUnknown
ADAMTS4ENSG00000158859ENST00000367996p.H365Nc.1093C>ASubstitution - Missense
SPG20ENSG00000133104ENST00000355182p.G56Rc.166G>CSubstitution - Missense
STAB2ENSG00000136011ENST00000388887p.?c.907-4G>AUnknown
DUSP27ENSG00000198842ENST00000361200p.R288Rc.864G>TSubstitution - coding silent
DUSP27ENSG00000198842ENST00000361200p.S914Sc.2742C>GSubstitution - coding silent
CDK11AENSG00000008128ENST00000357760p.E52*c.154G>TSubstitution - Nonsense
MAPK8ENSG00000107643ENST00000374182p.Y259Fc.776A>TSubstitution - Missense
CUBNENSG00000107611ENST00000377833p.G1160Wc.3478G>TSubstitution - Missense
PTCHD3ENSG00000182077ENST00000438700p.I408Tc.1223T>CSubstitution - Missense
ENST00000428306_v65p.G439Rc.1315G>ASubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.Q797Ec.2389C>GSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.G4701Cc.14101G>TSubstitution - Missense
SLC6A17ENSG00000197106ENST00000331565p.G79Vc.236G>TSubstitution - Missense
GPR158ENSG00000151025ENST00000376351p.M527Ic.1581G>ASubstitution - Missense
PLA2G2AENSG00000188257ENST00000400520p.T81Tc.243C>ASubstitution - coding silent
SYTL2ENSG00000137501ENST00000354566p.?c.2581+1G>TUnknown
FAT3ENSG00000165323ENST00000409404p.P308Tc.922C>ASubstitution - Missense
FZD10ENSG00000111432ENST00000229030p.S176Nc.527G>ASubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.?c.528+4A>TUnknown
KCNH6ENSG00000173826ENST00000583023p.S26Rc.78T>ASubstitution - Missense
RBM12BENSG00000183808ENST00000399300p.R669Wc.2005C>TSubstitution - Missense
ODAMENSG00000109205ENST00000396094p.P116Qc.347C>ASubstitution - Missense
RBL2ENSG00000103479ENST00000262133p.?c.2527-1G>TUnknown
LRRC3ENSG00000160233ENST00000291592p.L157Lc.471G>TSubstitution - coding silent
RELL1ENSG00000181826ENST00000314117p.?c.443+5G>TUnknown
C17orf98ENSG00000214556ENST00000398575p.?c.208-8A>TUnknown
CTAGE1ENSG00000212710ENST00000391403p.R732Sc.2194C>ASubstitution - Missense
NLRP7ENSG00000167634ENST00000448121p.R302Gc.904C>GSubstitution - Missense
ENST00000407030p.E163*c.487G>TSubstitution - Nonsense
SLX4ENSG00000188827ENST00000294008p.E263Dc.789G>TSubstitution - Missense
PASKENSG00000115687ENST00000234040p.?c.877-3C>GUnknown
SMCO1ENSG00000214097ENST00000397537p.F142Lc.424T>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.V2803Ic.8407G>ASubstitution - Missense
PHF23ENSG00000040633ENST00000320316p.G191Ec.572G>ASubstitution - Missense
RBM3ENSG00000102317ENST00000430348p.E63Qc.187G>CSubstitution - Missense
IQSEC2ENSG00000124313ENST00000396435p.R1122Cc.3364C>TSubstitution - Missense
TBC1D8ENSG00000204634ENST00000376840p.P61Ac.181C>GSubstitution - Missense
ENST00000316893p.R358Qc.1073G>ASubstitution - Missense
C17orf77ENSG00000182352ENST00000392620p.P236Tc.706C>ASubstitution - Missense
ADGBENSG00000118492ENST00000367493p.A115Ac.345G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.D3724Hc.11170G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.N5153Yc.15457A>TSubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.S3930Rc.11790C>ASubstitution - Missense
INPP5DENSG00000168918ENST00000359570p.G519Ec.1556G>ASubstitution - Missense
GLI2ENSG00000074047ENST00000361492p.G1083Wc.3247G>TSubstitution - Missense
C2orf62ENSG00000158428ENST00000289388p.G153Gc.459T>ASubstitution - coding silent
FZD9ENSG00000188763ENST00000344575p.Y302Yc.906C>TSubstitution - coding silent
ZNF117ENSG00000152926ENST00000282869p.T321Ac.961A>GSubstitution - Missense
ZXDCENSG00000070476ENST00000389709p.K465Qc.1393A>CSubstitution - Missense
MED12ENSG00000184634ENST00000374080p.R296Lc.887G>TSubstitution - Missense
NCKAP5ENSG00000176771ENST00000409261p.C327Yc.980G>ASubstitution - Missense
TRPC7ENSG00000069018ENST00000513104p.I587delIc.1757_1759delTCADeletion - In frame
ZNF502ENSG00000196653ENST00000296091p.G441Ec.1322G>ASubstitution - Missense
RNF8ENSG00000112130ENST00000373479p.S254Sc.762C>TSubstitution - coding silent
IKBKAPENSG00000070061ENST00000374647p.L1023Vc.3067C>GSubstitution - Missense
RFX6ENSG00000185002ENST00000332958p.H720Yc.2158C>TSubstitution - Missense
GRIK2ENSG00000164418ENST00000421544p.M737Ic.2211G>TSubstitution - Missense
ZFYENSG00000067646ENST00000383052p.Q618Rc.1853A>GSubstitution - Missense
DSTENSG00000151914ENST00000370769p.P4076Pc.12228T>ASubstitution - coding silent
PCDH11XENSG00000102290ENST00000395337p.H572Dc.1714C>GSubstitution - Missense
ENST00000361316p.S28Sc.84G>ASubstitution - coding silent
CSMD3ENSG00000164796ENST00000343508p.T1307Nc.3920C>ASubstitution - Missense
ARHGAP26ENSG00000145819ENST00000274498p.?c.1108-4C>GUnknown
NLGN1ENSG00000169760ENST00000457714p.E391*c.1171G>TSubstitution - Nonsense
CLIP3ENSG00000105270ENST00000360535p.?c.1328-10C>TUnknown
ZBBXENSG00000169064ENST00000455345p.S762Sc.2286A>CSubstitution - coding silent
TRPM6ENSG00000119121ENST00000360774p.R1531Gc.4591C>GSubstitution - Missense
SLC4A1ENSG00000004939ENST00000262418p.K590Mc.1769A>TSubstitution - Missense
CCL7ENSG00000108688ENST00000378569p.Q24Qc.72G>ASubstitution - coding silent
TBX18ENSG00000112837ENST00000369663p.L597Vc.1789C>GSubstitution - Missense
IMPG1ENSG00000112706ENST00000369950p.P543Tc.1627C>ASubstitution - Missense
RIMS2ENSG00000176406ENST00000436393p.G1064Ac.3191G>CSubstitution - Missense
FAXDC2ENSG00000170271ENST00000326080p.W209Rc.625T>ASubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.E2880*c.8638G>TSubstitution - Nonsense
ING3ENSG00000071243ENST00000315870p.E24*c.70G>TSubstitution - Nonsense
ENST00000316490p.T1522Tc.4566C>TSubstitution - coding silent
HDAC9ENSG00000048052ENST00000441542p.A954Ac.2862T>CSubstitution - coding silent
KMT2CENSG00000055609ENST00000355193p.G313*c.937G>TSubstitution - Nonsense
ENST00000400460p.P197Sc.589C>TSubstitution - Missense
WIZENSG00000011451ENST00000389282p.E812Qc.2434G>CSubstitution - Missense
PLA2R1ENSG00000153246ENST00000283243p.R903Kc.2708G>ASubstitution - Missense
ZSWIM3ENSG00000132801ENST00000454862p.W672Lc.2015G>TSubstitution - Missense
TBC1D13ENSG00000107021ENST00000372648p.?c.543+3G>CUnknown
F9ENSG00000101981ENST00000218099p.?c.391+1G>AUnknown
TEX11ENSG00000120498ENST00000395889p.D720Nc.2158G>ASubstitution - Missense
HEPHENSG00000089472ENST00000519389p.P1138Lc.3413C>TSubstitution - Missense
ENST00000545858p.Y127Cc.380A>GSubstitution - Missense
UTYENSG00000183878ENST00000329134p.P868Sc.2602C>TSubstitution - Missense
FAM47AENSG00000185448ENST00000346193p.E571*c.1711G>TSubstitution - Nonsense
OPRM1ENSG00000112038ENST00000434900p.R460Lc.1379G>TSubstitution - Missense
AREL1ENSG00000119682ENST00000356357p.L301Vc.901C>GSubstitution - Missense
ITGA2BENSG00000005961ENST00000262407p.F275Fc.825C>TSubstitution - coding silent
ENST00000356127p.L28718Lc.86154G>ASubstitution - coding silent
FAM135AENSG00000082269ENST00000370479p.G211*c.631G>TSubstitution - Nonsense
ZFAND4ENSG00000172671ENST00000335258p.?c.329-4C>AUnknown
PIK3AP1ENSG00000155629ENST00000339364p.M494Ic.1482G>TSubstitution - Missense
CDHR1ENSG00000148600ENST00000332904p.T525Nc.1574C>ASubstitution - Missense
ENST00000224764p.?c.430+9G>TUnknown
OBSCNENSG00000154358ENST00000570156p.E6188Kc.18562G>ASubstitution - Missense
OS9ENSG00000135506ENST00000315970p.E581*c.1741G>TSubstitution - Nonsense
OBSCNENSG00000154358ENST00000359599p.A2912Vc.8735C>TSubstitution - Missense
NFATC4ENSG00000100968ENST00000413692p.C946fs*7c.2835_2836insGInsertion - Frameshift
KCTD14ENSG00000151364ENST00000353172p.*256Cc.768A>TNonstop extension
KRT80ENSG00000167767ENST00000394815p.E298Kc.892G>ASubstitution - Missense
ADCY6ENSG00000174233ENST00000307885p.R34Rc.102G>TSubstitution - coding silent
NR4A1ENSG00000123358ENST00000360284p.P211Rc.632C>GSubstitution - Missense
POLR2GENSG00000168002ENST00000301788p.K94*c.280A>TSubstitution - Nonsense
WDR11ENSG00000120008ENST00000263461p.G1204Ec.3611G>ASubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.A2458Ac.7374G>CSubstitution - coding silent
INF2ENSG00000203485ENST00000392634p.E1089Kc.3265G>ASubstitution - Missense
JAKMIP3ENSG00000188385ENST00000298622p.T133Tc.399C>TSubstitution - coding silent
LRRK2ENSG00000188906ENST00000298910p.W82Lc.245G>TSubstitution - Missense
XM_371214.3p.S370Cc.1109C>GSubstitution - Missense
WDR64ENSG00000162843ENST00000366552p.P687Hc.2060C>ASubstitution - Missense
ENST00000389046p.?c.357-3C>TUnknown
IFITM10ENSG00000244242ENST00000340134p.A101Sc.301G>TSubstitution - Missense
OLFML2BENSG00000162745ENST00000294794p.R552Lc.1655G>TSubstitution - Missense
TEX26ENSG00000175664ENST00000380473p.P178Pc.534A>GSubstitution - coding silent
B3GAT1ENSG00000109956ENST00000537389p.W7Lc.20G>TSubstitution - Missense
MEN1ENSG00000133895ENST00000312049p.R131Cc.391C>TSubstitution - Missense
DDI1ENSG00000170967ENST00000302259p.R284Lc.851G>TSubstitution - Missense
SLC22A18ENSG00000110628ENST00000380574p.M17Ic.51G>ASubstitution - Missense
ENST00000417177p.G491Cc.1471G>TSubstitution - Missense
MAN2A2ENSG00000196547ENST00000360468p.?c.1374+5G>CUnknown
ENST00000417177p.G698Sc.2092G>ASubstitution - Missense
ENST00000306030_v65p.R298Qc.893G>ASubstitution - Missense
SLC8A3ENSG00000100678ENST00000381269p.G284Cc.850G>TSubstitution - Missense
ARMC4ENSG00000169126ENST00000305242p.L183Lc.549C>GSubstitution - coding silent
GPR139ENSG00000180269ENST00000570682p.R211Rc.631A>CSubstitution - coding silent
ENST00000298047_v61p.P2463Hc.7388C>ASubstitution - Missense
CCDC90BENSG00000137500ENST00000529689p.?c.468+5G>AUnknown
RNPEPENSG00000176393ENST00000295640p.V617_K623delVAQTLAKc.1847_1867del21Deletion - In frame
RIC3ENSG00000166405ENST00000343202p.P135Pc.405T>ASubstitution - coding silent
ENST00000298047_v61p.D767Gc.2300A>GSubstitution - Missense
OTX2ENSG00000165588ENST00000339475p.T236Pc.706A>CSubstitution - Missense
NEGR1ENSG00000172260ENST00000357731p.T283fs*5c.846delCDeletion - Frameshift
ENSG00000117598ENST00000263177p.F44Lc.130T>CSubstitution - Missense
IMPAD1ENSG00000104331ENST00000262644p.*360Lc.1079G>TNonstop extension
TTNENSG00000155657ENST00000342992p.I2986Vc.8956A>GSubstitution - Missense
PLAG1ENSG00000181690ENST00000316981p.G441Ac.1322G>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.G1119Dc.3356G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.G1073Dc.3218G>ASubstitution - Missense
COL5A2ENSG00000204262ENST00000374866p.?c.1060-9C>GUnknown
ZNF536ENSG00000198597ENST00000355537p.P854Hc.2561C>ASubstitution - Missense
APTXENSG00000137074ENST00000379813p.Q323Rc.968A>GSubstitution - Missense
GRM8ENSG00000179603ENST00000339582p.L518Pc.1553T>CSubstitution - Missense
MAST1ENSG00000105613ENST00000251472p.F433Lc.1299T>GSubstitution - Missense
AGBL1ENSG00000166748ENST00000441037p.Q163Hc.489G>TSubstitution - Missense
AGBL1ENSG00000166748ENST00000441037p.A187Pc.559G>CSubstitution - Missense
CTAGE5ENSG00000150527ENST00000341502p.P308Lc.923C>TSubstitution - Missense
CCNG2ENSG00000138764ENST00000354403p.E246Dc.738G>TSubstitution - Missense
PAQR3ENSG00000163291ENST00000380645p.R138Qc.413G>ASubstitution - Missense
LPHN3ENSG00000150471ENST00000507625p.R99Lc.296G>TSubstitution - Missense
DMXL1ENSG00000172869ENST00000539542p.T2556Sc.7666A>TSubstitution - Missense
PPIP5K2ENSG00000145725ENST00000358359p.Q868Ec.2602C>GSubstitution - Missense
SLIT3ENSG00000184347ENST00000404867p.K554Nc.1662G>TSubstitution - Missense
PRLRENSG00000113494ENST00000231423p.W148Gc.442T>GSubstitution - Missense
PRLRENSG00000113494ENST00000542609p.W148Gc.442T>GSubstitution - Missense
NPR3ENSG00000113389ENST00000415685p.Y100Nc.298T>ASubstitution - Missense
IRX4ENSG00000113430ENST00000505790p.S142Sc.426C>TSubstitution - coding silent
IRX4ENSG00000113430ENST00000505790p.Y122Nc.364T>ASubstitution - Missense
ADAMTS2ENSG00000087116ENST00000274609p.R255Rc.765G>ASubstitution - coding silent
UTRNENSG00000152818ENST00000367526p.E819*c.2455G>TSubstitution - Nonsense
SASH1ENSG00000111961ENST00000367469p.K41Kc.123A>GSubstitution - coding silent
ENST00000369212_v70p.Q137Lc.410A>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.Q29Pc.86A>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.D3724Hc.11170G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.N5082Yc.15244A>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.N4846Yc.14536A>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.G7641Vc.22922G>TSubstitution - Missense
SMOC2ENSG00000112562ENST00000417208p.P50Ac.148C>GSubstitution - Missense
QKIENSG00000112531ENST00000453779p.Q20*c.58C>TSubstitution - Nonsense
QKIENSG00000112531ENST00000392127p.Q20*c.58C>TSubstitution - Nonsense
OPRM1ENSG00000112038ENST00000419506p.R367Lc.1100G>TSubstitution - Missense
SLC17A2ENSG00000112337ENST00000377850p.A173Sc.517G>TSubstitution - Missense
TDP2ENSG00000111802ENST00000341060p.P290Rc.869C>GSubstitution - Missense
BAI3ENSG00000135298ENST00000238918p.M641Kc.1922T>ASubstitution - Missense
COL9A1ENSG00000112280ENST00000370499p.G220Vc.659G>TSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.T3317Tc.9951A>GSubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.P808Qc.2423C>ASubstitution - Missense
EPHA7ENSG00000135333ENST00000369303p.A663Dc.1988C>ASubstitution - Missense
GRM8ENSG00000179603ENST00000358373p.L518Pc.1553T>CSubstitution - Missense
TFECENSG00000105967ENST00000393485p.?c.296-3C>AUnknown
CPED1ENSG00000106034ENST00000450913p.P213Pc.639C>ASubstitution - coding silent
PPP1R3AENSG00000154415ENST00000284601p.R764Sc.2292G>TSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.E4865*c.14593G>TSubstitution - Nonsense
LMBR1ENSG00000105983ENST00000354505p.Y183Cc.548A>GSubstitution - Missense
ABCB8ENSG00000197150ENST00000356058p.R75Rc.225C>TSubstitution - coding silent
SUN3ENSG00000164744ENST00000453192p.T296Tc.888A>GSubstitution - coding silent
BBS9ENSG00000122507ENST00000354265p.H832Lc.2495A>TSubstitution - Missense
ENST00000328843_v70p.W1707Cc.5121G>TSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.E3207Dc.9621A>TSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.P4352Tc.13054C>ASubstitution - Missense
PLECENSG00000178209ENST00000356346p.G4186Vc.12557G>TSubstitution - Missense
OXR1ENSG00000164830ENST00000517566p.A647Vc.1940C>TSubstitution - Missense
GRM3ENSG00000198822ENST00000394720p.C476Yc.1427G>ASubstitution - Missense
TRPA1ENSG00000104321ENST00000262209p.C703Fc.2108G>TSubstitution - Missense
TRPA1ENSG00000104321ENST00000262209p.G271Rc.811G>CSubstitution - Missense
EYA1ENSG00000104313ENST00000388740p.K427Qc.1279A>CSubstitution - Missense
SH2D3CENSG00000095370ENST00000414380p.R190Lc.569G>TSubstitution - Missense
MPDZENSG00000107186ENST00000319217p.G1918Rc.5752G>CSubstitution - Missense
CACNA1BENSG00000148408ENST00000277549p.S1450Yc.4349C>ASubstitution - Missense
CAMSAP1ENSG00000130559ENST00000409386p.S1409*c.4226C>GSubstitution - Nonsense
FOXB2ENSG00000204612ENST00000376708p.S29Lc.86C>TSubstitution - Missense
TPM2ENSG00000198467ENST00000378300p.E208*c.622G>TSubstitution - Nonsense
GRIA3ENSG00000125675ENST00000541091p.A164Sc.490G>TSubstitution - Missense
SEPT6ENSG00000125354ENST00000354416p.P77Pc.231G>TSubstitution - coding silent
CSTF2ENSG00000101811ENST00000415585p.R294Lc.881G>TSubstitution - Missense
CSTF2ENSG00000101811ENST00000415585p.R339*c.1015C>TSubstitution - Nonsense
FAM120AENSG00000048828ENST00000333936p.Q868Hc.2604G>TSubstitution - Missense
XM_372262.3p.Y400*c.1200C>ASubstitution - Nonsense
UNC13CENSG00000137766ENST00000545554p.A3Ac.9T>ASubstitution - coding silent
C15orf52ENSG00000188549ENST00000397536p.P53Qc.158C>ASubstitution - Missense
PDXDC1ENSG00000179889ENST00000455313p.L254Fc.762G>TSubstitution - Missense
CACNA1HENSG00000196557ENST00000348261p.L707Pc.2120T>CSubstitution - Missense
PMLENSG00000140464ENST00000569477p.E363Kc.1087G>ASubstitution - Missense
MAPK3ENSG00000102882ENST00000403394p.V63Mc.187G>ASubstitution - Missense
APOBRENSG00000184730ENST00000564831p.E818Ec.2454G>ASubstitution - coding silent
FBXW10ENSG00000171931ENST00000308799p.E30Qc.88G>CSubstitution - Missense
RBFOX1ENSG00000078328ENST00000547372p.R227Sc.679C>ASubstitution - Missense
CHST5ENSG00000135702ENST00000541075p.P308Pc.924G>ASubstitution - coding silent
GPR97ENSG00000182885ENST00000327655p.F143Lc.429C>GSubstitution - Missense
ENST00000293218_v68p.?c.851-10C>TUnknown
DNAH17ENSG00000187775ENST00000389840p.D1512Hc.4534G>CSubstitution - Missense
PDE4AENSG00000065989ENST00000380702p.A151Vc.452C>TSubstitution - Missense
TSHZ1ENSG00000179981ENST00000580243p.A72Ac.216C>TSubstitution - coding silent
EPB41L3ENSG00000082397ENST00000544123p.E759Vc.2276A>TSubstitution - Missense
EPB41L3ENSG00000082397ENST00000542146p.E233Vc.698A>TSubstitution - Missense
TPM4ENSG00000167460ENST00000344824p.R178Kc.533G>ASubstitution - Missense
CYP4F3ENSG00000186529ENST00000585846p.I173Vc.517A>GSubstitution - Missense
C19orf55ENSG00000167595ENST00000535581p.W296Cc.888G>TSubstitution - Missense
PTPRSENSG00000105426ENST00000372412p.G25Ac.74G>CSubstitution - Missense
VAV1ENSG00000141968ENST00000602142p.T760Ac.2278A>GSubstitution - Missense
ELMO2ENSG00000062598ENST00000425546p.V5Lc.13G>TSubstitution - Missense
SLC13A3ENSG00000158296ENST00000372121p.A224Sc.670G>TSubstitution - Missense
PTPRTENSG00000196090ENST00000373184p.C1067*c.3201C>ASubstitution - Nonsense
PTPRTENSG00000196090ENST00000373184p.V750Vc.2250G>TSubstitution - coding silent
TPX2ENSG00000088325ENST00000340513p.V226Lc.676G>TSubstitution - Missense
PLCB4ENSG00000101333ENST00000378473p.S421Yc.1262C>ASubstitution - Missense
ATP5JENSG00000154723ENST00000457143p.P114Lc.341C>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000336649p.H1664Qc.4992T>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000400164p.H1623Qc.4869T>ASubstitution - Missense
ENST00000466655p.A346Vc.1037C>TSubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.M736Ic.2208G>TSubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.M736Ic.2208G>TSubstitution - Missense
ENSG00000268241ENST00000595354p.L409Hc.1226T>ASubstitution - Missense
SCN1AENSG00000144285ENST00000423058p.T1633Sc.4897A>TSubstitution - Missense
SLC4A10ENSG00000144290ENST00000446997p.S758Sc.2274C>ASubstitution - coding silent
SGOL2ENSG00000163535ENST00000357799p.D892Ec.2676T>ASubstitution - Missense
SGOL2ENSG00000163535ENST00000357799p.R893Mc.2678G>TSubstitution - Missense
GLSENSG00000115419ENST00000338435p.L182Lc.546A>GSubstitution - coding silent
ENST00000249505p.N285Kc.855C>ASubstitution - Missense
ANO7ENSG00000146205ENST00000402530p.D31Ec.93C>GSubstitution - Missense
PID1ENSG00000153823ENST00000354069p.D149Nc.445G>ASubstitution - Missense
FN1ENSG00000115414ENST00000426059p.?c.547+5G>TUnknown
SLC8A1ENSG00000183023ENST00000406785p.R5Rc.15G>TSubstitution - coding silent
SLC8A1ENSG00000183023ENST00000542024p.R5Rc.15G>TSubstitution - coding silent
DRC1ENSG00000157856ENST00000439066p.Y100*c.300T>ASubstitution - Nonsense
CTNNA2ENSG00000066032ENST00000361291p.Q807Kc.2419C>ASubstitution - Missense
MDH1ENSG00000014641ENST00000539945p.E224Qc.670G>CSubstitution - Missense
COL6A5ENSG00000172752ENST00000373157p.E35Kc.103G>ASubstitution - Missense
PEX5LENSG00000114757ENST00000263962p.Y506Cc.1517A>GSubstitution - Missense
PEX5LENSG00000114757ENST00000263962p.Q301Qc.903G>ASubstitution - coding silent
PEX5LENSG00000114757ENST00000263962p.V271Lc.811G>TSubstitution - Missense
CIDECENSG00000187288ENST00000383817p.S7Fc.20C>TSubstitution - Missense
PPA2ENSG00000138777ENST00000357415p.L246Vc.736C>GSubstitution - Missense
TPH1ENSG00000129167ENST00000341556p.P134fs*20c.401delCDeletion - Frameshift
SH3BP2ENSG00000087266ENST00000503393p.K161Nc.483G>TSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.F4167fs*18c.12497delCDeletion - Frameshift
UGT3A1ENSG00000145626ENST00000333811p.F121fs*17c.360delTDeletion - Frameshift
KIAA1731ENSG00000166004ENST00000411936p.?c.528+4A>TUnknown
ENST00000378024_v70p.G4110Wc.12328G>TSubstitution - Missense
KLHL13ENSG00000003096ENST00000539496p.S249fs*33c.744delCDeletion - Frameshift
ADAMTSL2ENSG00000197859ENST00000393061p.D318fs*8c.948delGDeletion - Frameshift
DEF8ENSG00000140995ENST00000418391p.L63Lc.189C>TSubstitution - coding silent
OR10AG1ENSG00000174970ENST00000312345p.F168Lc.504C>ASubstitution - Missense
OR5AK2ENSG00000181273ENST00000326855p.T160Sc.478A>TSubstitution - Missense
OR9G1ENSG00000174914ENST00000312153p.K231Mc.692A>TSubstitution - Missense
OR5AP2ENSG00000172464ENST00000302981p.A97Ac.291C>ASubstitution - coding silent
OR8K1ENSG00000150261ENST00000279783p.P85Qc.254C>ASubstitution - Missense
MYRFENSG00000124920ENST00000278836p.F1116Fc.3348C>TSubstitution - coding silent
OR9I1ENSG00000172377ENST00000302610p.V213Vc.639C>ASubstitution - coding silent
OR9I1ENSG00000172377ENST00000302610p.P21Hc.62C>ASubstitution - Missense
OR9Q1ENSG00000186509ENST00000335397p.V280Vc.840C>ASubstitution - coding silent
OR9Q1ENSG00000186509ENST00000335397p.I281Fc.841A>TSubstitution - Missense
P2RX3ENSG00000109991ENST00000263314p.E169Kc.505G>ASubstitution - Missense
FAT3ENSG00000165323ENST00000541502p.P308Tc.922C>ASubstitution - Missense
FAT3ENSG00000165323ENST00000541502p.D767Gc.2300A>GSubstitution - Missense
FAT3ENSG00000165323ENST00000541502p.D928Hc.2782G>CSubstitution - Missense
DDX11ENSG00000013573ENST00000251758p.?c.481-6G>TUnknown
ENST00000266505_v70p.T539Tc.1617A>TSubstitution - coding silent
KRT80ENSG00000167767ENST00000313234p.E298Kc.892G>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000553158p.A121Ec.362C>ASubstitution - Missense
CNTN1ENSG00000018236ENST00000547849p.V589Lc.1765G>CSubstitution - Missense
MON2ENSG00000061987ENST00000280379p.E475Qc.1423G>CSubstitution - Missense
ANKS1BENSG00000185046ENST00000332712p.E436Kc.1306G>ASubstitution - Missense
WDR47ENSG00000085433ENST00000400794p.V659Ec.1976T>ASubstitution - Missense
C1orf194ENSG00000179902ENST00000369948p.R57Rc.171G>ASubstitution - coding silent
UBE4BENSG00000130939ENST00000377157p.D499Yc.1495G>TSubstitution - Missense
AGLENSG00000162688ENST00000361522p.A393Ac.1179T>CSubstitution - coding silent
PCDH9ENSG00000184226ENST00000377861p.G397Cc.1189G>TSubstitution - Missense
ZNF687ENSG00000143373ENST00000368879p.L396Lc.1188G>ASubstitution - coding silent
ADAMTSL4ENSG00000143382ENST00000369041p.S467Fc.1400C>TSubstitution - Missense
PRAMEF1ENSG00000116721ENST00000400814p.?c.132-4A>TUnknown
TBX15ENSG00000092607ENST00000449873p.C120Sc.359G>CSubstitution - Missense
ADARENSG00000160710ENST00000292205p.Q103Hc.309G>TSubstitution - Missense
RABGAP1LENSG00000152061ENST00000357444p.G414*c.1240G>TSubstitution - Nonsense
RABGAP1LENSG00000152061ENST00000457696p.G463*c.1387G>TSubstitution - Nonsense
ATP13A2ENSG00000159363ENST00000341676p.R74Qc.221G>ASubstitution - Missense
FCRL3ENSG00000160856ENST00000368186p.T335Tc.1005C>ASubstitution - coding silent
COLGALT2ENSG00000198756ENST00000367520p.Q181*c.541C>TSubstitution - Nonsense
COLGALT2ENSG00000198756ENST00000367520p.Y28Cc.83A>GSubstitution - Missense
PLEKHA6ENSG00000143850ENST00000272203p.G567Wc.1699G>TSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.Y3062*c.9186C>ASubstitution - Nonsense
USH2AENSG00000042781ENST00000366943p.P2637Qc.7910C>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.P2624Pc.7872G>TSubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.S3996Sc.11988C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.H3643Nc.10927C>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.R4729Rc.14185A>CSubstitution - coding silent
HHATENSG00000054392ENST00000391905p.G355Cc.1063G>TSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366765p.M737Ic.2211G>CSubstitution - Missense
NBPF3ENSG00000142794ENST00000342104p.V230Fc.688G>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.A1661Vc.4982C>TSubstitution - Missense
ACTN2ENSG00000077522ENST00000542672p.W296Cc.888G>CSubstitution - Missense
ACTN2ENSG00000077522ENST00000542672p.K318Nc.954G>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000373388p.E181Ec.543G>ASubstitution - coding silent
COL16A1ENSG00000084636ENST00000271069p.*1605Sc.4814G>CNonstop extension
COL16A1ENSG00000084636ENST00000271069p.S43Ic.128G>TSubstitution - Missense
GMEB1ENSG00000162419ENST00000294409p.V569Vc.1707G>CSubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.G4407Vc.13220G>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.Y4848*c.14544T>ASubstitution - Nonsense
PIGKENSG00000142892ENST00000370812p.L20Fc.60G>TSubstitution - Missense
RALGAPA1ENSG00000174373ENST00000258840p.E348Gc.1043A>GSubstitution - Missense
ENSG00000117600ENST00000370184p.R572*c.1714A>TSubstitution - Nonsense
RTL1ENSG00000254656ENST00000534062p.W1173Cc.3519G>TSubstitution - Missense
RTL1ENSG00000254656ENST00000534062p.G989Sc.2965G>ASubstitution - Missense
SNRPNENSG00000128739ENST00000444203p.L46Lc.138C>TSubstitution - coding silent
SNRPNENSG00000128739ENST00000444203p.?c.279+5G>TUnknown
UNC13CENSG00000137766ENST00000545554p.S1836Nc.5507G>ASubstitution - Missense
FAM184BENSG00000047662ENST00000265018p.T1031Tc.3093C>ASubstitution - coding silent
ING2ENSG00000168556ENST00000302327p.C228Yc.683G>ASubstitution - Missense
LETM1ENSG00000168924ENST00000302787p.P507Pc.1521G>TSubstitution - coding silent
WDR17ENSG00000150627ENST00000280190p.K802Mc.2405A>TSubstitution - Missense
DOCK2ENSG00000134516ENST00000256935p.Y1640*c.4920C>GSubstitution - Nonsense
SLIT3ENSG00000184347ENST00000519560p.K554Nc.1662G>TSubstitution - Missense
FAM153BENSG00000182230ENST00000253490p.?c.862+10C>GUnknown
HMGCS1ENSG00000112972ENST00000325110p.L280Lc.840G>ASubstitution - coding silent
CCL28ENSG00000151882ENST00000361115p.S35Lc.104C>TSubstitution - Missense
GHRENSG00000112964ENST00000230882p.L129Ic.385C>ASubstitution - Missense
COL23A1ENSG00000050767ENST00000390654p.?c.1212+7G>AUnknown
DBN1ENSG00000113758ENST00000292385p.Q185Kc.553C>ASubstitution - Missense
DBN1ENSG00000113758ENST00000309007p.Q183Kc.547C>ASubstitution - Missense
DDX41ENSG00000183258ENST00000507955p.R591Lc.1772G>TSubstitution - Missense
GZMKENSG00000113088ENST00000231009p.T109Kc.326C>ASubstitution - Missense
DHX29ENSG00000067248ENST00000251636p.S1209*c.3626C>GSubstitution - Nonsense
ADAMTS16ENSG00000145536ENST00000274181p.V1151Lc.3451G>TSubstitution - Missense
CEP72ENSG00000112877ENST00000264935p.S433Rc.1297A>CSubstitution - Missense
SKIV2LENSG00000204351ENST00000375394p.A1022Tc.3064G>ASubstitution - Missense
NOTCH4ENSG00000204301ENST00000375023p.V1302Vc.3906A>TSubstitution - coding silent
TNXBENSG00000168477ENST00000375247p.R2750Wc.8248A>TSubstitution - Missense
TNXBENSG00000168477ENST00000375244p.R2663Wc.7987A>TSubstitution - Missense
TNXBENSG00000168477ENST00000375247p.G3678Vc.11033G>TSubstitution - Missense
TNXBENSG00000168477ENST00000375244p.G3613Vc.10838G>TSubstitution - Missense
TNXBENSG00000168477ENST00000375244p.G2991Rc.8971G>ASubstitution - Missense
PACSIN1ENSG00000124507ENST00000244458p.W299Lc.896G>TSubstitution - Missense
ZBTB22ENSG00000236104ENST00000418724p.G231Rc.691G>CSubstitution - Missense
BRD2ENSG00000204256ENST00000395289p.S256Cc.767C>GSubstitution - Missense
TAP1ENSG00000168394ENST00000354258p.E243Qc.727G>CSubstitution - Missense
DUSP22ENSG00000112679ENST00000419235p.Q119Kc.353C>ASubstitution - Missense
TNFRSF21ENSG00000146072ENST00000296861p.T537Tc.1611G>TSubstitution - coding silent
TNFRSF21ENSG00000146072ENST00000296861p.?c.1244-2A>TUnknown
RUNX2ENSG00000124813ENST00000352853p.H12Pc.35A>CSubstitution - Missense
SUPT3HENSG00000196284ENST00000371460p.?c.306+1G>TUnknown
SUPT3HENSG00000196284ENST00000371459p.?c.273+1G>TUnknown
SLC35B2ENSG00000157593ENST00000393812p.M224Lc.670A>TSubstitution - Missense
AARS2ENSG00000124608ENST00000244571p.?c.2598+5G>AUnknown
PKHD1ENSG00000170927ENST00000371117p.Q3022Kc.9064C>ASubstitution - Missense
CRISP1ENSG00000124812ENST00000335847p.L227Lc.681G>CSubstitution - coding silent
OPN5ENSG00000124818ENST00000371211p.?c.757-6C>TUnknown
FAM83BENSG00000168143ENST00000306858p.P398Ac.1192C>GSubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.T649Tc.1947G>CSubstitution - coding silent
PKHD1ENSG00000170927ENST00000340994p.T649Tc.1947G>CSubstitution - coding silent
KIF4AENSG00000090889ENST00000374388p.Q583*c.1747C>TSubstitution - Nonsense
ADAMTS20ENSG00000173157ENST00000553158p.F17Fc.51C>TSubstitution - coding silent
MPHOSPH9ENSG00000051825ENST00000302349p.?c.2574-2A>TUnknown
PTPRTENSG00000196090ENST00000373184p.T1356Tc.4068G>TSubstitution - coding silent
CYP2A7ENSG00000198077ENST00000291764p.A80Sc.238G>TSubstitution - Missense
C10orf128ENSG00000204161ENST00000374151p.L38Lc.114C>ASubstitution - coding silent
MYPNENSG00000138347ENST00000540630p.H226Nc.676C>ASubstitution - Missense
PIK3AP1ENSG00000155629ENST00000371109p.M93Ic.279G>TSubstitution - Missense
ENST00000340134_v70p.A199Sc.595G>TSubstitution - Missense
LAYNENSG00000204381ENST00000375615p.F55Fc.165C>TSubstitution - coding silent
GUCY1A2ENSG00000152402ENST00000282249p.L155Rc.464T>GSubstitution - Missense
OR51A4ENSG00000205497ENST00000380373p.N130Kc.390C>ASubstitution - Missense
TRIM64CENSG00000214891ENST00000530230p.R305Hc.914G>ASubstitution - Missense
ENST00000340070p.R305Hc.914G>ASubstitution - Missense
TPH1ENSG00000129167ENST00000341556p.S113Ac.337T>GSubstitution - Missense
ENST00000314689p.R137Cc.409C>TSubstitution - Missense
OR51I1ENSG00000167359ENST00000380211p.R124Cc.370C>TSubstitution - Missense
OR51M1ENSG00000184698ENST00000328611p.D222Yc.664G>TSubstitution - Missense
OR4C15ENSG00000181939ENST00000314644p.L267Lc.799T>CSubstitution - coding silent
OR5J2ENSG00000174957ENST00000312298p.L32Mc.94C>ASubstitution - Missense
OR5T2ENSG00000181718ENST00000313264p.P322Lc.965C>TSubstitution - Missense
AGMOENSG00000187546ENST00000342526p.A237Gc.710C>GSubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.R139Mc.416G>TSubstitution - Missense
HDAC9ENSG00000048052ENST00000405010p.R136Mc.407G>TSubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.N252Ic.755A>TSubstitution - Missense
PSMG3ENSG00000157778ENST00000288607p.L109Lc.327G>CSubstitution - coding silent
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
ENST00000400460p.T78Mc.233C>TSubstitution - Missense
ITGB8ENSG00000105855ENST00000222573p.?c.1282-2A>GUnknown
ITGB8ENSG00000105855ENST00000222573p.?c.1282-2A>GUnknown
SMARCB1ENSG00000099956ENST00000344921p.K372Nc.1116G>CSubstitution - Missense
VPREB1ENSG00000169575ENST00000403807p.T40Tc.120C>ASubstitution - coding silent
SLC4A10ENSG00000144290ENST00000446997p.R63*c.187C>TSubstitution - Nonsense
SLC4A10ENSG00000144290ENST00000415876p.R63*c.187C>TSubstitution - Nonsense
TBR1ENSG00000136535ENST00000389554p.A136Sc.406G>TSubstitution - Missense
SUSD2ENSG00000099994ENST00000358321p.Q260Qc.780G>ASubstitution - coding silent
FAPENSG00000078098ENST00000188790p.R575*c.1723C>TSubstitution - Nonsense
SLC4A10ENSG00000144290ENST00000375514p.W782Lc.2345G>TSubstitution - Missense
SLC4A10ENSG00000144290ENST00000415876p.W771Lc.2312G>TSubstitution - Missense
TTC21BENSG00000123607ENST00000243344p.M590Ic.1770G>CSubstitution - Missense
GALNT3ENSG00000115339ENST00000392701p.?c.1073+5G>TUnknown
SCN2AENSG00000136531ENST00000375427p.M1241Tc.3722T>CSubstitution - Missense
XIRP2ENSG00000163092ENST00000409728p.L866Vc.2596T>GSubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.D1285Nc.3853G>ASubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.N634fs*31c.1899_1900insAInsertion - Frameshift
ABCB11ENSG00000073734ENST00000263817p.L97Fc.291A>TSubstitution - Missense
FAM91A1ENSG00000176853ENST00000334705p.G393*c.1177G>TSubstitution - Nonsense
FER1L6ENSG00000214814ENST00000399018p.E1003fs*2c.3005delGDeletion - Frameshift
KLHL38ENSG00000175946ENST00000325995p.P106Hc.317C>ASubstitution - Missense
METTL5ENSG00000138382ENST00000392640p.D108Hc.322G>CSubstitution - Missense
UBR3ENSG00000144357ENST00000392632p.R288Tc.863G>CSubstitution - Missense
ADCY8ENSG00000155897ENST00000286355p.A359Ac.1077C>GSubstitution - coding silent
KHDRBS3ENSG00000131773ENST00000355849p.V214fs*57c.638_639insCInsertion - Frameshift
ZFATENSG00000066827ENST00000377838p.H1143Nc.3427C>ASubstitution - Missense
ZFATENSG00000066827ENST00000377838p.H1093Yc.3277C>TSubstitution - Missense
ASTN2ENSG00000148219ENST00000361209p.V318Vc.954G>TSubstitution - coding silent
ASTN2ENSG00000148219ENST00000313400p.V318Vc.954G>TSubstitution - coding silent
TRIM32ENSG00000119401ENST00000450136p.E256Kc.766G>ASubstitution - Missense
PAPPAENSG00000182752ENST00000328252p.R1232Sc.3694C>ASubstitution - Missense
PAPPAENSG00000182752ENST00000328252p.G251Dc.752G>ASubstitution - Missense
AKNAENSG00000106948ENST00000307564p.L858Lc.2574G>TSubstitution - coding silent
AKNAENSG00000106948ENST00000307564p.F370Fc.1110C>TSubstitution - coding silent
TYRP1ENSG00000107165ENST00000388918p.?c.1082-4C>AUnknown
ZBTB26ENSG00000171448ENST00000373654p.G91Vc.272G>TSubstitution - Missense
OR5C1ENSG00000148215ENST00000373680p.V128Ac.383T>CSubstitution - Missense
PDCLENSG00000136940ENST00000259467p.G256Gc.768G>TSubstitution - coding silent
RC3H2ENSG00000056586ENST00000373670p.D1178Vc.3533A>TSubstitution - Missense
CERCAMENSG00000167123ENST00000372838p.N422Ic.1265A>TSubstitution - Missense
GOLGA2ENSG00000167110ENST00000421699p.E117Kc.349G>ASubstitution - Missense
NAIF1ENSG00000171169ENST00000373078p.E16fs*11c.46delGDeletion - Frameshift
SH2D3CENSG00000095370ENST00000314830p.R373Lc.1118G>TSubstitution - Missense
FAM129BENSG00000136830ENST00000373314p.T523Tc.1569G>ASubstitution - coding silent
PRRX2ENSG00000167157ENST00000372469p.Q153*c.457C>TSubstitution - Nonsense
PRDM12ENSG00000130711ENST00000253008p.W160*c.480G>ASubstitution - Nonsense
EHHADHENSG00000113790ENST00000231887p.L527Fc.1581G>CSubstitution - Missense
THPOENSG00000090534ENST00000204615p.D83Nc.247G>ASubstitution - Missense
PSMD2ENSG00000175166ENST00000310118p.E157Qc.469G>CSubstitution - Missense
LPPENSG00000145012ENST00000312675p.G30Vc.89G>TSubstitution - Missense
LPPENSG00000145012ENST00000312675p.V206Fc.616G>TSubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.A865Tc.2593G>ASubstitution - Missense
ENST00000330241p.E157*c.469G>TSubstitution - Nonsense
PROM1ENSG00000007062ENST00000447510p.R350Rc.1050G>ASubstitution - coding silent
WDR17ENSG00000150627ENST00000280190p.N1068Nc.3204T>CSubstitution - coding silent
ADAM29ENSG00000168594ENST00000359240p.P486Lc.1457C>TSubstitution - Missense
FAM184BENSG00000047662ENST00000265018p.H1050Qc.3150C>ASubstitution - Missense
OXR1ENSG00000164830ENST00000312046p.A559Vc.1676C>TSubstitution - Missense
ENST00000316490_v65p.K3383Nc.10149G>TSubstitution - Missense
ENST00000316490p.K3335Nc.10005G>TSubstitution - Missense
HYDINENSG00000157423ENST00000321489p.E639*c.1915G>TSubstitution - Nonsense
ENST00000316490p.E639*c.1915G>TSubstitution - Nonsense
ZFHX3ENSG00000140836ENST00000268489p.T796fs*28c.2385delGDeletion - Frameshift
ABCA3ENSG00000167972ENST00000301732p.G1067Vc.3200G>TSubstitution - Missense
HBA1ENSG00000206172ENST00000320868p.L137Lc.411G>ASubstitution - coding silent
PKD1ENSG00000008710ENST00000262304p.G1933Vc.5798G>TSubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.P1674Pc.5022G>TSubstitution - coding silent
TSC2ENSG00000103197ENST00000219476p.S1232Cc.3695C>GSubstitution - Missense
IL27RAENSG00000104998ENST00000263379p.?c.1244-6C>AUnknown
CCNFENSG00000162063ENST00000397066p.L116Lc.348G>TSubstitution - coding silent
WIZENSG00000011451ENST00000263381p.E123Qc.367G>CSubstitution - Missense
SLC1A6ENSG00000105143ENST00000221742p.?c.205+8C>GUnknown
ENST00000304105p.V204Vc.612G>TSubstitution - coding silent
ZNF333ENSG00000160961ENST00000292530p.T519Ac.1555A>GSubstitution - Missense
PCSK4ENSG00000115257ENST00000300954p.E507Dc.1521G>TSubstitution - Missense
CHERPENSG00000085872ENST00000546361p.R814Wc.2440C>TSubstitution - Missense
MED26ENSG00000105085ENST00000263390p.Y402Cc.1205A>GSubstitution - Missense
NWD1ENSG00000188039ENST00000524140p.L1274Lc.3822C>GSubstitution - coding silent
TMEM145ENSG00000167619ENST00000301204p.G388Ec.1163G>ASubstitution - Missense
GRIK5ENSG00000105737ENST00000262895p.E507Kc.1519G>ASubstitution - Missense
PSG6ENSG00000170848ENST00000292125p.P173Tc.517C>ASubstitution - Missense
ZNF285ENSG00000267508ENST00000330997p.S468Cc.1402A>TSubstitution - Missense
CHAF1AENSG00000167670ENST00000301280p.M883Ic.2649G>ASubstitution - Missense
NM_133170.2p.C1079*c.3237C>ASubstitution - Nonsense
NM_133170.2p.C1079Yc.3236G>ASubstitution - Missense
NM_133170.2p.D827fs*54c.2478delCDeletion - Frameshift
NM_133170.2p.G559Vc.1676G>TSubstitution - Missense
PABPC1LENSG00000101104ENST00000217073p.?c.973-2A>CUnknown
GTSF1LENSG00000124196ENST00000373003p.H113Nc.337C>ASubstitution - Missense
NM_133170.2p.A1280Tc.3838G>ASubstitution - Missense
SLC13A3ENSG00000158296ENST00000279027p.G246Vc.737G>TSubstitution - Missense
SLC12A5ENSG00000124140ENST00000243964p.K855Kc.2565G>ASubstitution - coding silent
NCOA5ENSG00000124160ENST00000290231p.R91Pc.272G>CSubstitution - Missense
SLC12A5ENSG00000124140ENST00000243964p.G548Vc.1643G>TSubstitution - Missense
ZSWIM3ENSG00000132801ENST00000454862p.L324Lc.972C>GSubstitution - coding silent
ARFGEF2ENSG00000124198ENST00000371917p.?c.424-7A>GUnknown
LRP1BENSG00000168702ENST00000389484p.C317Fc.950G>TSubstitution - Missense
PREX1ENSG00000124126ENST00000371941p.I911Ic.2733C>TSubstitution - coding silent
PREX1ENSG00000124126ENST00000396220p.I911Ic.2733C>TSubstitution - coding silent
ENST00000334436p.?c.1920-9C>GUnknown
KCNJ3ENSG00000162989ENST00000295101p.F412Vc.1234T>GSubstitution - Missense
NBASENSG00000151779ENST00000281513p.L2221Fc.6663G>TSubstitution - Missense
NEBENSG00000183091ENST00000397345p.S889Sc.2667A>TSubstitution - coding silent
NEBENSG00000183091ENST00000409198p.S889Sc.2667A>TSubstitution - coding silent
NEBENSG00000183091ENST00000409198p.G1446Cc.4336G>TSubstitution - Missense
NEBENSG00000183091ENST00000427231p.P1556Pc.4668A>GSubstitution - coding silent
LRRC66ENSG00000188993ENST00000343457p.I58Vc.172A>GSubstitution - Missense
FRYLENSG00000075539ENST00000503238p.S65Lc.194C>TSubstitution - Missense
PLA2R1ENSG00000153246ENST00000283243p.R792Rc.2376T>ASubstitution - coding silent
BAZ2BENSG00000123636ENST00000392783p.R543Tc.1628G>CSubstitution - Missense
TANC1ENSG00000115183ENST00000263635p.T347Tc.1041G>TSubstitution - coding silent
RESTENSG00000084093ENST00000309042p.R387Lc.1160G>TSubstitution - Missense
KIAA1211ENSG00000109265ENST00000264229p.L194fs*55c.579delCDeletion - Frameshift
JAKMIP1ENSG00000152969ENST00000409021p.?c.129+1G>CUnknown
JAKMIP1ENSG00000152969ENST00000282924p.?c.129+1G>CUnknown
LPHN3ENSG00000150471ENST00000512091p.R31Lc.92G>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000512091p.R31Lc.92G>TSubstitution - Missense
CRMP1ENSG00000072832ENST00000324989p.G182fs*16c.543delCDeletion - Frameshift
POLR2BENSG00000047315ENST00000381227p.K249Nc.747G>TSubstitution - Missense
POLR2BENSG00000047315ENST00000381227p.V601Fc.1801G>TSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.P840Ac.2518C>GSubstitution - Missense
ATP11CENSG00000101974ENST00000361648p.?c.1018-1G>TUnknown
AFF2ENSG00000155966ENST00000370460p.L94Qc.281T>ASubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.L94Qc.281T>ASubstitution - Missense
SPANXN2ENSG00000203924ENST00000370498p.N24Ic.71A>TSubstitution - Missense
MAGEA1ENSG00000198681ENST00000356661p.G308fs*>2c.923delGDeletion - Frameshift
ZNF185ENSG00000147394ENST00000535861p.S130Yc.389C>ASubstitution - Missense
GABRQENSG00000147402ENST00000370306p.D292Yc.874G>TSubstitution - Missense
NM_021049.3p.E13Kc.37G>ASubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.A3659Sc.10975G>TSubstitution - Missense
NM_002910.4p.V155Fc.463G>TSubstitution - Missense
CD14ENSG00000170458ENST00000302014p.G294Ec.881G>ASubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.A2131Sc.6391G>TSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.Q1835*c.5503C>TSubstitution - Nonsense
DNAH5ENSG00000039139ENST00000265104p.E3093*c.9277G>TSubstitution - Nonsense
PCDHA8ENSG00000204962ENST00000531613p.P394Pc.1182C>TSubstitution - coding silent
PCDHA8ENSG00000204962ENST00000378123p.P394Pc.1182C>TSubstitution - coding silent
PCDHA4ENSG00000204967ENST00000530339p.A682Sc.2044G>TSubstitution - Missense
PCDHA1ENSG00000204970ENST00000504120p.L642Wc.1925T>GSubstitution - Missense
PCDHB16ENSG00000196963ENST00000361016p.I441Ic.1323A>CSubstitution - coding silent
PCDHB16ENSG00000196963ENST00000361016p.T450Tc.1350T>CSubstitution - coding silent
SLC36A2ENSG00000186335ENST00000335244p.P334Tc.1000C>ASubstitution - Missense
LARP1ENSG00000155506ENST00000336314p.A217Vc.650C>TSubstitution - Missense
GABRA1ENSG00000022355ENST00000393943p.?c.703+9G>AUnknown
ZKSCAN8ENSG00000198315ENST00000536028p.R144Tc.431G>CSubstitution - Missense
ZFP57ENSG00000204644ENST00000376883p.V334Vc.1002G>TSubstitution - coding silent
OR2W1ENSG00000204704ENST00000377175p.K319fs*>2c.956delADeletion - Frameshift
ZSCAN23ENSG00000187987ENST00000289788p.Q239Hc.717A>TSubstitution - Missense
PPP1R10ENSG00000204569ENST00000376511p.L90Lc.270C>GSubstitution - coding silent
COG5ENSG00000164597ENST00000297135p.F776Fc.2328C>TSubstitution - coding silent
SRPK2ENSG00000135250ENST00000357311p.R80Rc.240G>TSubstitution - coding silent
RINT1ENSG00000135249ENST00000257700p.Q636Ec.1906C>GSubstitution - Missense
DDX39BENSG00000198563ENST00000449757p.?c.67+3A>CUnknown
ENST00000364810p.F56Fc.168C>TSubstitution - coding silent
NM_002711.2p.R764Sc.2292G>TSubstitution - Missense
DOCK4ENSG00000128512ENST00000437633p.L746Vc.2236C>GSubstitution - Missense
ENST00000342288p.L734Vc.2200C>GSubstitution - Missense
LAMB1ENSG00000091136ENST00000222399p.D401Vc.1202A>TSubstitution - Missense
ENST00000297830p.E52Vc.155A>TSubstitution - Missense
CPED1ENSG00000106034ENST00000310396p.P213Pc.639C>ASubstitution - coding silent
CTTNBP2ENSG00000077063ENST00000160373p.S740Yc.2219C>ASubstitution - Missense
CTTNBP2ENSG00000077063ENST00000160373p.G625Dc.1874G>ASubstitution - Missense
CTTNBP2ENSG00000077063ENST00000160373p.E163Dc.489G>CSubstitution - Missense
ANKRD7ENSG00000106013ENST00000357099p.V35Fc.103G>TSubstitution - Missense
CFTRENSG00000001626ENST00000003084p.V272Fc.814G>TSubstitution - Missense
THSD7AENSG00000005108ENST00000423059p.P259Lc.776C>TSubstitution - Missense
OR2A2ENSG00000221989ENST00000408979p.K53Kc.159G>ASubstitution - coding silent
FAM131BENSG00000159784ENST00000443739p.E303Kc.907G>ASubstitution - Missense
FAM131BENSG00000159784ENST00000409346p.E275Kc.823G>ASubstitution - Missense
CNTNAP2ENSG00000174469ENST00000361727p.E849*c.2545G>TSubstitution - Nonsense
NOBOXENSG00000106410ENST00000467773p.T550Tc.1650G>TSubstitution - coding silent
TMEM176AENSG00000002933ENST00000004103p.L212Lc.636G>CSubstitution - coding silent
ZNF862ENSG00000106479ENST00000223210p.L1136Lc.3408G>TSubstitution - coding silent
ACTR3CENSG00000106526ENST00000252071p.?c.472-8C>TUnknown
ZMIZ2ENSG00000122515ENST00000309315p.G129Wc.385G>TSubstitution - Missense
NPC1L1ENSG00000015520ENST00000289547p.P838Sc.2512C>TSubstitution - Missense
DDX56ENSG00000136271ENST00000258772p.L66Pc.197T>CSubstitution - Missense
ABCB8ENSG00000197150ENST00000358849p.R38Rc.114C>TSubstitution - coding silent
ZPBPENSG00000042813ENST00000046087p.D58fs*37c.172_173insGInsertion - Frameshift
SEPT14ENSG00000154997ENST00000388975p.H84Lc.251A>TSubstitution - Missense
ZNF479ENSG00000185177ENST00000331162p.Q482Hc.1446A>TSubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.W1063Rc.3187T>ASubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.G1391Ac.4172G>CSubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.R2102Kc.6305G>ASubstitution - Missense
ENST00000312046_v70p.A640Vc.1919C>TSubstitution - Missense
SERPINI1ENSG00000163536ENST00000446050p.E197Vc.590A>TSubstitution - Missense
ZBBXENSG00000169064ENST00000392766p.S723Sc.2169A>CSubstitution - coding silent
BCHEENSG00000114200ENST00000264381p.N193fs*18c.576delGDeletion - Frameshift
BCHEENSG00000114200ENST00000264381p.K79*c.235A>TSubstitution - Nonsense
NLGN1ENSG00000169760ENST00000401917p.E431*c.1291G>TSubstitution - Nonsense
SKILENSG00000136603ENST00000259119p.E626Qc.1876G>CSubstitution - Missense
PCDHGB1ENSG00000254221ENST00000523390p.D234Hc.700G>CSubstitution - Missense
PCDHGB1ENSG00000254221ENST00000523390p.D234Hc.700G>CSubstitution - Missense
FXR1ENSG00000114416ENST00000357559p.E135*c.403G>TSubstitution - Nonsense
PEX5LENSG00000114757ENST00000467460p.V273Lc.817G>TSubstitution - Missense
PEX5LENSG00000114757ENST00000467460p.Y508Cc.1523A>GSubstitution - Missense
NLGN1ENSG00000169760ENST00000401917p.P800Ac.2398C>GSubstitution - Missense
PCDHGA7ENSG00000253537ENST00000518325p.E205Kc.613G>ASubstitution - Missense
LPCAT1ENSG00000153395ENST00000283415p.Q495Hc.1485G>CSubstitution - Missense
FAM105BENSG00000154124ENST00000284274p.E209Vc.626A>TSubstitution - Missense
SH3RF2ENSG00000156463ENST00000359120p.V534Lc.1600G>TSubstitution - Missense
FBXO38ENSG00000145868ENST00000340253p.E1152Ec.3456G>ASubstitution - coding silent
HTR4ENSG00000164270ENST00000360693p.D286Hc.856G>CSubstitution - Missense
HTR4ENSG00000164270ENST00000354217p.D286Hc.856G>CSubstitution - Missense
HTR4ENSG00000164270ENST00000314512p.D286Hc.856G>CSubstitution - Missense
HTR4ENSG00000164270ENST00000362016p.D300Hc.898G>CSubstitution - Missense
GFI1BENSG00000165702ENST00000372122p.S289Yc.866C>ASubstitution - Missense
CSF1RENSG00000182578ENST00000286301p.E664Gc.1991A>GSubstitution - Missense
OLFM1ENSG00000130558ENST00000252854p.D187Vc.560A>TSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.D209fs*8c.621delGDeletion - Frameshift
LCN15ENSG00000177984ENST00000316144p.T60Sc.178A>TSubstitution - Missense
CAMSAP1ENSG00000130559ENST00000389532p.S1398*c.4193C>GSubstitution - Nonsense
CAMSAP1ENSG00000130559ENST00000389532p.A1257Ac.3771G>TSubstitution - coding silent
OLFM1ENSG00000130558ENST00000252854p.Q354Pc.1061A>CSubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.A2210Ac.6630C>ASubstitution - coding silent
PRUNE2ENSG00000106772ENST00000376718p.?c.7513+1delgUnknown
TRPM6ENSG00000119121ENST00000451710p.R1531Gc.4591C>GSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.R714Gc.2140C>GSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.R714Gc.2140C>GSubstitution - Missense
VPS13AENSG00000197969ENST00000360280p.D1277Dc.3831T>CSubstitution - coding silent
VPS13AENSG00000197969ENST00000357409p.D1277Dc.3831T>CSubstitution - coding silent
VPS13AENSG00000197969ENST00000376634p.D1277Dc.3831T>CSubstitution - coding silent
AGTPBP1ENSG00000135049ENST00000376083p.T310Ic.929C>TSubstitution - Missense
NTRK2ENSG00000148053ENST00000376214p.K767*c.2299A>TSubstitution - Nonsense
NTRK2ENSG00000148053ENST00000376214p.K767*c.2299A>TSubstitution - Nonsense
ENST00000346816p.M130Ic.390G>TSubstitution - Missense
ROR2ENSG00000169071ENST00000375708p.R706Rc.2118G>ASubstitution - coding silent
DAPK1ENSG00000196730ENST00000408954p.G179Gc.537G>TSubstitution - coding silent
DAPK1ENSG00000196730ENST00000358077p.G179Gc.537G>TSubstitution - coding silent
GAS1ENSG00000180447ENST00000298743p.S257Wc.770C>GSubstitution - Missense
CAPN12ENSG00000182472ENST00000328867p.M1Ic.3G>ASubstitution - Missense
LGALS4ENSG00000171747ENST00000307751p.E259fs*>65c.775delGDeletion - Frameshift
MAP4K1ENSG00000104814ENST00000396857p.A613Gc.1838C>GSubstitution - Missense
MAP3K10ENSG00000130758ENST00000253055p.R118Pc.353G>CSubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.S2666Sc.7998C>TSubstitution - coding silent
CYP2A7ENSG00000198077ENST00000301146p.A131Sc.391G>TSubstitution - Missense
SPTBN4ENSG00000160460ENST00000352632p.T2418Tc.7254A>CSubstitution - coding silent
AXLENSG00000167601ENST00000301178p.R55Wc.163C>TSubstitution - Missense
AXLENSG00000167601ENST00000359092p.W69*c.207G>ASubstitution - Nonsense
ANLNENSG00000011426ENST00000265748p.D1115Hc.3343G>CSubstitution - Missense
BBS9ENSG00000122507ENST00000242067p.H867Lc.2600A>TSubstitution - Missense
BMPERENSG00000164619ENST00000297161p.?c.1877-3C>TUnknown
HECW1ENSG00000002746ENST00000395891p.E596*c.1786G>TSubstitution - Nonsense
HECW1ENSG00000002746ENST00000395891p.E596*c.1786G>TSubstitution - Nonsense
GLI3ENSG00000106571ENST00000395925p.S1167Cc.3500C>GSubstitution - Missense
MAGEC2ENSG00000046774ENST00000247452p.Q280Qc.840G>ASubstitution - coding silent
MAGEC2ENSG00000046774ENST00000247452p.S135Sc.405C>GSubstitution - coding silent
SPANXN3ENSG00000189252ENST00000370503p.Q28Kc.82C>ASubstitution - Missense
MAGEC3ENSG00000165509ENST00000544766p.Q243Hc.729G>TSubstitution - Missense
SMC2ENSG00000136824ENST00000286398p.Q718Hc.2154G>TSubstitution - Missense
GRIN3AENSG00000198785ENST00000361820p.T258Tc.774C>ASubstitution - coding silent
ENST00000374801p.S32Tc.94T>ASubstitution - Missense
SVEP1ENSG00000165124ENST00000401783p.C1228*c.3684T>ASubstitution - Nonsense
TRDNENSG00000186439ENST00000398178p.E378*c.1132G>TSubstitution - Nonsense
TRDNENSG00000186439ENST00000398178p.K377Nc.1131G>TSubstitution - Missense
TRDNENSG00000186439ENST00000398178p.K527*c.1579A>TSubstitution - Nonsense
HIVEP1ENSG00000095951ENST00000379388p.?c.6076-3C>TUnknown
SNX30ENSG00000148158ENST00000374232p.?c.1255-3C>TUnknown
LAMA2ENSG00000196569ENST00000421865p.T1300Rc.3899C>GSubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.P81Qc.242C>ASubstitution - Missense
C6orf58ENSG00000184530ENST00000329722p.L32Qc.95T>ASubstitution - Missense
KIAA0408ENSG00000189367ENST00000483725p.G598Gc.1794T>ASubstitution - coding silent
NCOA7ENSG00000111912ENST00000368357p.K103Nc.309G>TSubstitution - Missense
TAAR5ENSG00000135569ENST00000258034p.I122Nc.365T>ASubstitution - Missense
ENPP1ENSG00000197594ENST00000360971p.E62Dc.186G>TSubstitution - Missense
CTGFENSG00000118523ENST00000367976p.Q233Hc.699G>TSubstitution - Missense
DSPENSG00000096696ENST00000379802p.L2049Lc.6147G>TSubstitution - coding silent
PDE7BENSG00000171408ENST00000308191p.L207Lc.621G>ASubstitution - coding silent
RANBP9ENSG00000010017ENST00000011619p.C284fs*1c.852_855delTGTTDeletion - Frameshift
TBX18ENSG00000112837ENST00000369663p.Q515Kc.1543C>ASubstitution - Missense
DOPEY1ENSG00000083097ENST00000349129p.M119Vc.355A>GSubstitution - Missense
PHIPENSG00000146247ENST00000275034p.K913Mc.2738A>TSubstitution - Missense
LCA5ENSG00000135338ENST00000392959p.D233Gc.698A>GSubstitution - Missense
CNR1ENSG00000118432ENST00000369499p.L385Lc.1155C>ASubstitution - coding silent
KLHL32ENSG00000186231ENST00000369261p.D517Yc.1549G>TSubstitution - Missense
NM_004440p.A663Dc.1988C>ASubstitution - Missense
MYO1DENSG00000176658ENST00000318217p.L904Fc.2712G>TSubstitution - Missense
LRRC37BENSG00000185158ENST00000341671p.L419Vc.1255C>GSubstitution - Missense
NF1ENSG00000196712ENST00000358273p.E2692Kc.8074G>ASubstitution - Missense
TAF15ENSG00000172660ENST00000311979p.?c.674-4T>AUnknown
AP2B1ENSG00000006125ENST00000312678p.G625Cc.1873G>TSubstitution - Missense
AP2B1ENSG00000006125ENST00000312678p.?c.2627-4C>GUnknown
NLE1ENSG00000073536ENST00000442241p.R101Lc.302G>TSubstitution - Missense
UNC45BENSG00000141161ENST00000394570p.?c.471+10G>TUnknown
CCT6BENSG00000132141ENST00000314144p.V311Vc.933A>GSubstitution - coding silent
CYP1B1ENSG00000138061ENST00000260630p.Q424Hc.1272G>TSubstitution - Missense
C17orf78ENSG00000167230ENST00000300618p.A144Dc.431C>ASubstitution - Missense
ACACAENSG00000132142ENST00000353139p.R1874Ic.5621G>TSubstitution - Missense
DYNC2LI1ENSG00000138036ENST00000260605p.P78Sc.232C>TSubstitution - Missense
DYNC2LI1ENSG00000138036ENST00000260605p.E324Qc.970G>CSubstitution - Missense
NRXN1ENSG00000179915ENST00000404971p.L1220Lc.3660G>TSubstitution - coding silent
NRXN1ENSG00000179915ENST00000406316p.L1180Lc.3540G>TSubstitution - coding silent
FSHRENSG00000170820ENST00000406846p.V687Vc.2061C>ASubstitution - coding silent
KCNH4ENSG00000089558ENST00000264661p.R173Hc.518G>ASubstitution - Missense
DNAJC7ENSG00000168259ENST00000457167p.?c.1448-3C>TUnknown
NM_003315.1p.?c.1418-3C>TUnknown
COA3ENSG00000183978ENST00000328434p.G65Ac.194G>CSubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.S914Sc.2742C>TSubstitution - coding silent
NM_133373.2p.G451Wc.1351G>TSubstitution - Missense
SPAG9ENSG00000008294ENST00000262013p.?c.1665-7C>GUnknown
CACNA1GENSG00000006283ENST00000359106p.C1608Fc.4823G>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000416767p.R846Sc.2536C>ASubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.R846Sc.2536C>ASubstitution - Missense
VPS53ENSG00000141252ENST00000291074p.G129Cc.385G>TSubstitution - Missense
ZNF594ENSG00000180626ENST00000399604p.F531Lc.1593C>ASubstitution - Missense
UTP18ENSG00000011260ENST00000225298p.V336Ac.1007T>CSubstitution - Missense
TEX14ENSG00000121101ENST00000240361p.D1087Hc.3259G>CSubstitution - Missense
BZRAP1ENSG00000005379ENST00000343736p.T1568Tc.4704G>ASubstitution - coding silent
LGI4ENSG00000153902ENST00000310123p.E407*c.1219G>TSubstitution - Nonsense
KIRREL2ENSG00000126259ENST00000360202p.R535Pc.1604G>CSubstitution - Missense
RBM42ENSG00000126254ENST00000262633p.H164Hc.492C>TSubstitution - coding silent
ZNF573ENSG00000189144ENST00000590414p.Q405Ec.1213C>GSubstitution - Missense
YIF1BENSG00000167645ENST00000329420p.P2Pc.6A>TSubstitution - coding silent
UTYENSG00000183878ENST00000540140p.P865Sc.2593C>TSubstitution - Missense
PCDH19ENSG00000165194ENST00000373034p.V105Vc.315C>TSubstitution - coding silent
DIAPH2ENSG00000147202ENST00000324765p.R928Hc.2783G>ASubstitution - Missense
PCDH11XENSG00000102290ENST00000373094p.H572Dc.1714C>GSubstitution - Missense
PCDH11XENSG00000102290ENST00000504220p.H572Dc.1714C>GSubstitution - Missense
CDH19ENSG00000071991ENST00000262150p.D572Ec.1716C>ASubstitution - Missense
ARHGAP28ENSG00000088756ENST00000400091p.S178Nc.533G>ASubstitution - Missense
COL5A3ENSG00000080573ENST00000264828p.?c.4369-1G>TUnknown
TSHZ1ENSG00000179981ENST00000322038p.A27Ac.81C>TSubstitution - coding silent
APOL2ENSG00000128335ENST00000358502p.G134Ac.401G>CSubstitution - Missense
APOL1ENSG00000100342ENST00000319136p.T58fs*38c.169delGDeletion - Frameshift
COL5A3ENSG00000080573ENST00000264828p.?c.2406+5G>TUnknown
COL5A3ENSG00000080573ENST00000264828p.L486Lc.1458C>TSubstitution - coding silent
CARD10ENSG00000100065ENST00000403299p.A643Sc.1927G>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000404898p.H1623Qc.4869T>ASubstitution - Missense
RPL3ENSG00000100316ENST00000216146p.G64Ec.191G>ASubstitution - Missense
RPL3ENSG00000100316ENST00000216146p.R19Rc.57G>TSubstitution - coding silent
RPL3ENSG00000100316ENST00000216146p.R4Ic.11G>TSubstitution - Missense
FYNENSG00000010810ENST00000354650p.E436*c.1306G>TSubstitution - Nonsense
FYNENSG00000010810ENST00000354650p.E94Kc.280G>ASubstitution - Missense
REV3LENSG00000009413ENST00000358835p.Q2616Lc.7847A>TSubstitution - Missense
NM_002912.1p.Q2538Lc.7613A>TSubstitution - Missense
ENST00000368933p.Q537Qc.1611G>ASubstitution - coding silent
GCM2ENSG00000124827ENST00000379491p.S492*c.1475C>ASubstitution - Nonsense
DCBLD1ENSG00000164465ENST00000296955p.?c.460+8G>TUnknown
DCBLD1ENSG00000164465ENST00000338728p.?c.460+8G>TUnknown
ROS1ENSG00000047936ENST00000368508p.R2126Rc.6378G>TSubstitution - coding silent
ROS1ENSG00000047936ENST00000368507p.R2120Rc.6360G>TSubstitution - coding silent
GPRC6AENSG00000173612ENST00000310357p.D469Yc.1405G>TSubstitution - Missense
TRAPPC3LENSG00000173626ENST00000368602p.A146Sc.436G>TSubstitution - Missense
ENST00000368602_v68p.A146Sc.436G>TSubstitution - Missense
FAM26DENSG00000164451ENST00000368596p.S134Ic.401G>TSubstitution - Missense
COL10A1ENSG00000123500ENST00000327673p.G308*c.922G>TSubstitution - Nonsense
DSEENSG00000111817ENST00000331677p.S243Cc.728C>GSubstitution - Missense
DSTENSG00000151914ENST00000370765p.T614Tc.1842C>GSubstitution - coding silent
DSTENSG00000151914ENST00000370769p.P3223Ac.9667C>GSubstitution - Missense
DSTENSG00000151914ENST00000244364p.P1662Pc.4986T>ASubstitution - coding silent
BAI3ENSG00000135298ENST00000370598p.E516Kc.1546G>ASubstitution - Missense
BAI3ENSG00000135298ENST00000370598p.D800Yc.2398G>TSubstitution - Missense
EYSENSG00000188107ENST00000370621p.C937Gc.2809T>GSubstitution - Missense
XM_059776.6p.R31Lc.92G>TSubstitution - Missense
DDX43ENSG00000080007ENST00000370336p.P373Ac.1117C>GSubstitution - Missense
MB21D1ENSG00000164430ENST00000370315p.K384Mc.1151A>TSubstitution - Missense
RIMS1ENSG00000079841ENST00000521978p.S236Tc.707G>CSubstitution - Missense
RIMS1ENSG00000079841ENST00000521978p.H573Nc.1717C>ASubstitution - Missense
COL9A1ENSG00000112280ENST00000357250p.G463Vc.1388G>TSubstitution - Missense
FAM135AENSG00000082269ENST00000418814p.G254*c.760G>TSubstitution - Nonsense
COL19A1ENSG00000082293ENST00000322773p.L65Ic.193C>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.L1943Vc.5827T>GSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.R820Lc.2459G>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.R780Lc.2339G>TSubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.N361fs*75c.1082delADeletion - Frameshift
CSMD3ENSG00000164796ENST00000297405p.T1347Nc.4040C>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.L1903Vc.5707T>GSubstitution - Missense
COL14A1ENSG00000187955ENST00000297848p.?c.4821+4A>GUnknown
MTBPENSG00000172167ENST00000305949p.G300Vc.899G>TSubstitution - Missense
TAF2ENSG00000064313ENST00000378164p.D1053Hc.3157G>CSubstitution - Missense
GRIN3AENSG00000198785ENST00000361820p.V767Ic.2299G>ASubstitution - Missense
COL15A1ENSG00000204291ENST00000375001p.G631Rc.1891G>ASubstitution - Missense
ZHX1ENSG00000165156ENST00000395571p.S273Cc.818C>GSubstitution - Missense
ABCA1ENSG00000165029ENST00000374736p.Y49Nc.145T>ASubstitution - Missense
OR13C2ENSG00000257019ENST00000542196p.L17Hc.50T>ASubstitution - Missense
OR13C4ENSG00000148136ENST00000277216p.E11*c.31G>TSubstitution - Nonsense
OR13C3ENSG00000204246ENST00000374781p.C209Fc.626G>TSubstitution - Missense
MAPK3ENSG00000102882ENST00000263025p.V63Mc.187G>ASubstitution - Missense
CFC1ENSG00000136698ENST00000259216p.Q44*c.130C>TSubstitution - Nonsense
PTPN18ENSG00000072135ENST00000175756p.G432Vc.1295G>TSubstitution - Missense
ZNF668ENSG00000167394ENST00000394983p.S466Lc.1397C>TSubstitution - Missense
ZRANB3ENSG00000121988ENST00000264159p.R165Ic.494G>TSubstitution - Missense
NCKAP5ENSG00000176771ENST00000405974p.C166Yc.497G>ASubstitution - Missense
NCKAP5ENSG00000176771ENST00000409261p.N1176Kc.3528T>ASubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.G3852Cc.11554G>TSubstitution - Missense
THSD7BENSG00000144229ENST00000272643p.?c.3954+4G>AUnknown
THSD7BENSG00000144229ENST00000272643p.G73Rc.217G>ASubstitution - Missense
THSD7BENSG00000144229ENST00000413152p.R90Cc.268C>TSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.?c.4335-10C>TUnknown
ARHGAP31ENSG00000031081ENST00000264245p.L1172Lc.3516G>ASubstitution - coding silent
TIMMDC1ENSG00000113845ENST00000494664p.A25Ac.75C>ASubstitution - coding silent
ADPRHENSG00000144843ENST00000357003p.N116Sc.347A>GSubstitution - Missense
UPK1BENSG00000114638ENST00000264234p.?c.468+6A>TUnknown
ARHGAP31ENSG00000031081ENST00000264245p.P739Rc.2216C>GSubstitution - Missense
LSAMPENSG00000185565ENST00000490035p.A199Ac.597T>ASubstitution - coding silent
ZBTB20ENSG00000181722ENST00000474710p.E18Kc.52G>ASubstitution - Missense
GOLGB1ENSG00000173230ENST00000340645p.Q418Lc.1253A>TSubstitution - Missense
GPR156ENSG00000175697ENST00000315843p.R537Rc.1611G>CSubstitution - coding silent
DTX3LENSG00000163840ENST00000296161p.D472Nc.1414G>ASubstitution - Missense
FBLN2ENSG00000163520ENST00000492059p.E1075Qc.3223G>CSubstitution - Missense
FBLN2ENSG00000163520ENST00000404922p.E494Qc.1480G>CSubstitution - Missense
PPP2R3AENSG00000073711ENST00000334546p.R32Qc.95G>ASubstitution - Missense
EPHB1ENSG00000154928ENST00000398015p.M247Ic.741G>TSubstitution - Missense
EPHB1ENSG00000154928ENST00000398015p.M247Ic.741G>TSubstitution - Missense
RYKENSG00000163785ENST00000296084p.H601Lc.1802A>TSubstitution - Missense
USP38ENSG00000170185ENST00000307017p.Q902Lc.2705A>TSubstitution - Missense
SETD7ENSG00000145391ENST00000274031p.D150Dc.450T>CSubstitution - coding silent
FBXW7ENSG00000109670ENST00000281708p.D520Hc.1558G>CSubstitution - Missense
FBXW7ENSG00000109670ENST00000263981p.D440Hc.1318G>CSubstitution - Missense
FBXW7ENSG00000109670ENST00000296555p.D402Hc.1204G>CSubstitution - Missense
ENST00000534231p.D281Hc.841G>CSubstitution - Missense
LRBAENSG00000198589ENST00000357115p.L1244Fc.3732G>CSubstitution - Missense
DCHS2ENSG00000197410ENST00000357232p.L2395Rc.7184T>GSubstitution - Missense
DCHS2ENSG00000197410ENST00000357232p.G2070*c.6208G>TSubstitution - Nonsense
KIAA0922ENSG00000121210ENST00000409959p.S176Sc.528G>ASubstitution - coding silent
MTNR1AENSG00000168412ENST00000307161p.S87Sc.261G>TSubstitution - coding silent
LRP2BPENSG00000109771ENST00000328559p.D273Hc.817G>CSubstitution - Missense
SH3BP2ENSG00000087266ENST00000356331p.K104Nc.312G>TSubstitution - Missense
CCKARENSG00000163394ENST00000295589p.L46Vc.136C>GSubstitution - Missense
ZNF732ENSG00000186777ENST00000419098p.W429fs*5c.1287delGDeletion - Frameshift
PRR16ENSG00000184838ENST00000379551p.?c.91-3T>CUnknown
PRR16ENSG00000184838ENST00000407149p.?c.160-3T>CUnknown
DMXL1ENSG00000172869ENST00000311085p.T2556Sc.7666A>TSubstitution - Missense
PCDH7ENSG00000169851ENST00000361762p.T769Ac.2305A>GSubstitution - Missense
NM_032457.1p.T722Ac.2164A>GSubstitution - Missense
TERTENSG00000164362ENST00000310581p.V713Vc.2139G>CSubstitution - coding silent
FBN2ENSG00000138829ENST00000508053p.D658Yc.1972G>TSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.D658Yc.1972G>TSubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.I485Vc.1453A>GSubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.R382fs*2c.1143delGDeletion - Frameshift
SLC6A18ENSG00000164363ENST00000324642p.R558Lc.1673G>TSubstitution - Missense
ACOT12ENSG00000172497ENST00000307624p.L461Vc.1381C>GSubstitution - Missense
ACOT12ENSG00000172497ENST00000307624p.P460Pc.1380C>ASubstitution - coding silent
TRPC7ENSG00000069018ENST00000513104p.I587delIc.1757_1759delTCADeletion - In frame
GPR98ENSG00000164199ENST00000405460p.L5749Fc.17247G>TSubstitution - Missense
CPXCR1ENSG00000147183ENST00000276127p.P23Rc.68C>GSubstitution - Missense
MCHR2ENSG00000152034ENST00000369212p.Q137Lc.410A>TSubstitution - Missense
PRDM13ENSG00000112238ENST00000369214p.L439Fc.1317G>TSubstitution - Missense
PCDH11YENSG00000099715ENST00000215473p.P1169Tc.3505C>ASubstitution - Missense
PCDH11YENSG00000099715ENST00000215473p.P1169Qc.3506C>ASubstitution - Missense
UTYENSG00000183878ENST00000331397p.P868Sc.2602C>TSubstitution - Missense
MOGAT3ENSG00000106384ENST00000379423p.A277Ac.831C>ASubstitution - coding silent
RELNENSG00000189056ENST00000343529p.W1126*c.3377G>ASubstitution - Nonsense
CALN1ENSG00000183166ENST00000329008p.H4Nc.10C>ASubstitution - Missense
GRID2IPENSG00000215045ENST00000457091p.A160Sc.478G>TSubstitution - Missense
ZNF273ENSG00000198039ENST00000476120p.R63Tc.188G>CSubstitution - Missense
ZNF680ENSG00000173041ENST00000309683p.C327Fc.980G>TSubstitution - Missense
GTF2IENSG00000077809ENST00000324896p.E190Kc.568G>ASubstitution - Missense
GTF2IENSG00000077809ENST00000324896p.L9Fc.25C>TSubstitution - Missense
EXD3ENSG00000187609ENST00000340951p.L417Pc.1250T>CSubstitution - Missense
FUT7ENSG00000180549ENST00000314412p.P152Tc.454C>ASubstitution - Missense
CCDC171ENSG00000164989ENST00000380701p.T969Rc.2906C>GSubstitution - Missense
ENST00000380689p.T236Rc.707C>GSubstitution - Missense
CACNA1BENSG00000148408ENST00000371372p.S2256Yc.6767C>ASubstitution - Missense
CACNA1BENSG00000148408ENST00000371372p.P1121Tc.3361C>ASubstitution - Missense
ITIH6ENSG00000102313ENST00000218436p.V163Vc.489G>ASubstitution - coding silent
HAUS6ENSG00000147874ENST00000380502p.E505Ec.1515A>GSubstitution - coding silent
LAS1LENSG00000001497ENST00000374811p.R624Kc.1871G>ASubstitution - Missense
LAS1LENSG00000001497ENST00000374811p.P529Pc.1587A>GSubstitution - coding silent
NLGN4XENSG00000146938ENST00000381095p.V587Vc.1761G>TSubstitution - coding silent
APEX2ENSG00000169188ENST00000374987p.Q106Hc.318G>CSubstitution - Missense
TEX11ENSG00000120498ENST00000374333p.D705Nc.2113G>ASubstitution - Missense
SLC7A3ENSG00000165349ENST00000374299p.N116Tc.347A>CSubstitution - Missense
ATP7AENSG00000165240ENST00000341514p.K60*c.178A>TSubstitution - Nonsense
ABCB7ENSG00000131269ENST00000253577p.V414Vc.1242G>ASubstitution - coding silent
RLIMENSG00000131263ENST00000332687p.S89*c.266C>GSubstitution - Nonsense
TAF1ENSG00000147133ENST00000373790p.G425Vc.1274G>TSubstitution - Missense
HDXENSG00000165259ENST00000297977p.R178*c.532A>TSubstitution - Nonsense
SH3BGRLENSG00000131171ENST00000373212p.?c.231+4A>GUnknown
ELLENSG00000105656ENST00000262809p.Q559Rc.1676A>GSubstitution - Missense
KCNN1ENSG00000105642ENST00000222249p.?c.1429-6C>TUnknown
KCNN1ENSG00000105642ENST00000222249p.?c.1429-6C>TUnknown
UNC13AENSG00000130477ENST00000252773p.V6Lc.16G>CSubstitution - Missense
ATP8B3ENSG00000130270ENST00000525591p.E1199Vc.3596A>TSubstitution - Missense
ZNF486ENSG00000256229ENST00000335117p.?c.31-2A>GUnknown
ENST00000311237p.?c.4-2A>GUnknown
SUGP1ENSG00000105705ENST00000247001p.D260Yc.778G>TSubstitution - Missense
UPF1ENSG00000005007ENST00000262803p.V826Vc.2478G>TSubstitution - coding silent
NM_012116.2p.G188Vc.563G>TSubstitution - Missense
ZNF430ENSG00000118620ENST00000261560p.L516Lc.1548A>TSubstitution - coding silent
PNMAL2ENSG00000204851ENST00000599531p.Q138*c.412C>TSubstitution - Nonsense
CCDC8ENSG00000169515ENST00000307522p.K491fs*31c.1472delADeletion - Frameshift
NOVA2ENSG00000104967ENST00000263257p.S69Sc.207C>TSubstitution - coding silent
EML2ENSG00000125746ENST00000245925p.V353Mc.1057G>ASubstitution - Missense
PPP1R13LENSG00000104881ENST00000360957p.E481Vc.1442A>TSubstitution - Missense
SPHK2ENSG00000063176ENST00000443164p.L81Lc.243G>TSubstitution - coding silent
PLIN3ENSG00000105355ENST00000221957p.A212Gc.635C>GSubstitution - Missense
PLIN3ENSG00000105355ENST00000221957p.?c.635-1G>TUnknown
EHD2ENSG00000024422ENST00000263277p.T94Tc.282C>TSubstitution - coding silent
XPO6ENSG00000169180ENST00000304658p.L673Lc.2017C>TSubstitution - coding silent
PRSS27ENSG00000172382ENST00000302641p.K221Kc.663G>ASubstitution - coding silent
GTF3C1ENSG00000077235ENST00000356183p.E1599*c.4795G>TSubstitution - Nonsense
GTF3C1ENSG00000077235ENST00000356183p.?c.849+5G>AUnknown
ENST00000427965p.I302Fc.904A>TSubstitution - Missense
RABEP2ENSG00000177548ENST00000358201p.I277Vc.829A>GSubstitution - Missense
EIF3CENSG00000184110ENST00000331666p.?c.937-7G>CUnknown
EIF3CENSG00000184110ENST00000395587p.?c.937-7G>CUnknown
IL27ENSG00000197272ENST00000356897p.?c.204+9C>AUnknown
SULT1A2ENSG00000197165ENST00000395630p.?c.594+3G>AUnknown
APOBRENSG00000184730ENST00000328423p.E809Ec.2427G>ASubstitution - coding silent
XPO6ENSG00000169180ENST00000304658p.L673Lc.2017C>TSubstitution - coding silent
RNF40ENSG00000103549ENST00000324685p.L209Lc.627C>TSubstitution - coding silent
SRCAPENSG00000080603ENST00000262518p.L1353Lc.4059A>TSubstitution - coding silent
ZNF688ENSG00000229809ENST00000223459p.G239Wc.715G>TSubstitution - Missense
TBC1D10BENSG00000169221ENST00000409939p.L365Lc.1095C>GSubstitution - coding silent
SPHKAPENSG00000153820ENST00000392056p.A930Ac.2790G>ASubstitution - coding silent
XM_051221.5p.A930Ac.2790G>ASubstitution - coding silent
COL6A3ENSG00000163359ENST00000295550p.T253Tc.759C>ASubstitution - coding silent
COL6A3ENSG00000163359ENST00000392004p.T47Tc.141C>ASubstitution - coding silent
COL6A3ENSG00000163359ENST00000295550p.V2849Lc.8545G>TSubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.Y2721Yc.8163C>TSubstitution - coding silent
AGAP1ENSG00000157985ENST00000304032p.I30Mc.90C>GSubstitution - Missense
BCL11AENSG00000119866ENST00000335712p.S679Pc.2035T>CSubstitution - Missense
CCDC88AENSG00000115355ENST00000336838p.D1493Nc.4477G>ASubstitution - Missense
CCDC88AENSG00000115355ENST00000263630p.D1466Nc.4396G>ASubstitution - Missense
EML6ENSG00000214595ENST00000356458p.A699Dc.2096C>ASubstitution - Missense
SPTBN1ENSG00000115306ENST00000333896p.R143Cc.427C>TSubstitution - Missense
KLHL30ENSG00000168427ENST00000409223p.?c.1151-6C>AUnknown
AFTPHENSG00000119844ENST00000238855p.P624Lc.1871C>TSubstitution - Missense
AFTPHENSG00000119844ENST00000238856p.P624Lc.1871C>TSubstitution - Missense
MDH1ENSG00000014641ENST00000233114p.E206Qc.616G>CSubstitution - Missense
UGP2ENSG00000169764ENST00000337130p.F20Lc.60C>GSubstitution - Missense
EHBP1ENSG00000115504ENST00000263991p.D274Vc.821A>TSubstitution - Missense
USP34ENSG00000115464ENST00000398571p.R2817Hc.8450G>ASubstitution - Missense
RELENSG00000162924ENST00000295025p.I354Tc.1061T>CSubstitution - Missense
ENST00000310276p.E897Kc.2689G>ASubstitution - Missense
ASPRV1ENSG00000244617ENST00000320256p.L224Vc.670T>GSubstitution - Missense
ANTXR1ENSG00000169604ENST00000409829p.?c.224+5G>CUnknown
KALRNENSG00000160145ENST00000291478p.V1210Mc.3628G>ASubstitution - Missense
KALRNENSG00000160145ENST00000360013p.V2907Mc.8719G>ASubstitution - Missense
RHOENSG00000163914ENST00000296271p.G101*c.301G>TSubstitution - Nonsense
IFT122ENSG00000163913ENST00000296266p.?c.108+5G>TUnknown
COL6A5ENSG00000172752ENST00000312481p.E131Kc.391G>ASubstitution - Missense
IQSEC1ENSG00000144711ENST00000429247p.E589Qc.1765G>CSubstitution - Missense
SMC1BENSG00000077935ENST00000357450p.Q683Kc.2047C>ASubstitution - Missense
NM_148674.1p.Q683Kc.2047C>ASubstitution - Missense
TTLL8ENSG00000138892ENST00000266182p.?c.644-9G>TUnknown
TTLL8ENSG00000138892ENST00000433387p.?c.752-9G>TUnknown
TTLL8ENSG00000138892ENST00000440475p.?c.644-9G>TUnknown
CELSR1ENSG00000075275ENST00000262738p.H2184Yc.6550C>TSubstitution - Missense
ZNF197ENSG00000186448ENST00000344387p.R943Sc.2829G>TSubstitution - Missense
SUMF1ENSG00000144455ENST00000272902p.R349Lc.1046G>TSubstitution - Missense
XM_371474.2p.?c.5542-1G>TUnknown
PTH1RENSG00000160801ENST00000313049p.?c.1117-2A>TUnknown
ENST00000395734_v68p.E698Qc.2092G>CSubstitution - Missense
MAP4ENSG00000047849ENST00000264724p.E433Qc.1297G>CSubstitution - Missense
SCAPENSG00000114650ENST00000265565p.E589Ec.1767G>ASubstitution - coding silent
TMEM174ENSG00000164325ENST00000296776p.I125Ic.375C>TSubstitution - coding silent
SLC25A20ENSG00000178537ENST00000319017p.S53Cc.158C>GSubstitution - Missense
ADCY2ENSG00000078295ENST00000338316p.V384Lc.1150G>TSubstitution - Missense
SV2CENSG00000122012ENST00000502798p.?c.581-4G>TUnknown
ENST00000274361_v65p.R748*c.2242A>TSubstitution - Nonsense
C6orf89ENSG00000198663ENST00000355190p.Q300*c.898C>TSubstitution - Nonsense
ENST00000238522p.P1594Pc.4782G>ASubstitution - coding silent
KIF6ENSG00000164627ENST00000287152p.A797Sc.2389G>TSubstitution - Missense
KIF6ENSG00000164627ENST00000287152p.A797Sc.2389G>TSubstitution - Missense
TFEBENSG00000112561ENST00000230323p.M180Ic.540G>ASubstitution - Missense
LRFN2ENSG00000156564ENST00000338305p.L202Lc.606G>TSubstitution - coding silent
EPOENSG00000130427ENST00000252723p.R130Cc.388C>TSubstitution - Missense
LRCH4ENSG00000077454ENST00000310300p.E618Qc.1852G>CSubstitution - Missense
SRFENSG00000112658ENST00000265354p.S507Cc.1519A>TSubstitution - Missense
PPP2R5DENSG00000112640ENST00000485511p.E318Kc.952G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.F4024fs*18c.12068delCDeletion - Frameshift
MUC12ENSG00000205277ENST00000536621p.N4334Dc.13000A>GSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.E4722*c.14164G>TSubstitution - Nonsense
MUC12ENSG00000205277ENST00000536621p.T3174Tc.9522A>GSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.F1384fs*18c.4148delCDeletion - Frameshift
MUC12ENSG00000205277ENST00000536621p.P665Qc.1994C>ASubstitution - Missense
SLC12A9ENSG00000146828ENST00000354161p.C130Fc.389G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.D3739Hc.11215G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.N5153Yc.15457A>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.N5082Yc.15244A>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.Q29Pc.86A>CSubstitution - Missense
VIPENSG00000146469ENST00000367244p.E44Dc.132G>TSubstitution - Missense
WTAPENSG00000146457ENST00000358372p.L7Vc.19C>GSubstitution - Missense
ARID1BENSG00000049618ENST00000346085p.T1657Sc.4970C>GSubstitution - Missense
ABCB5ENSG00000004846ENST00000404938p.T213Kc.638C>ASubstitution - Missense
C6orf118ENSG00000112539ENST00000230301p.A408Tc.1222G>ASubstitution - Missense
C6orf118ENSG00000112539ENST00000230301p.L24Rc.71T>GSubstitution - Missense
ATXN1ENSG00000124788ENST00000244769p.A427Ac.1281G>TSubstitution - coding silent
QKIENSG00000112531ENST00000361752p.Q20*c.58C>TSubstitution - Nonsense
QKIENSG00000112531ENST00000275262p.Q20*c.58C>TSubstitution - Nonsense
PARK2ENSG00000185345ENST00000366892p.R366Gc.1096A>GSubstitution - Missense
HOXA6ENSG00000106006ENST00000222728p.D84Yc.250G>TSubstitution - Missense
HNRNPA2B1ENSG00000122566ENST00000354667p.G285Sc.853G>ASubstitution - Missense
HNRNPA2B1ENSG00000122566ENST00000356674p.G273Sc.817G>ASubstitution - Missense
GPNMBENSG00000136235ENST00000381990p.T439Ic.1316C>TSubstitution - Missense
GPNMBENSG00000136235ENST00000381990p.R456Qc.1367G>ASubstitution - Missense
GARSENSG00000106105ENST00000389266p.D425Hc.1273G>CSubstitution - Missense
CD36ENSG00000135218ENST00000435819p.Q87Rc.260A>GSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.P2252fs*23c.6755delCDeletion - Frameshift
PCLOENSG00000186472ENST00000333891p.P2252fs*23c.6755delCDeletion - Frameshift
PCLOENSG00000186472ENST00000333891p.E3207Dc.9621A>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.E3207Dc.9621A>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.P4352Tc.13054C>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.P4352Tc.13054C>ASubstitution - Missense
HEATR2ENSG00000164818ENST00000297440p.R792Qc.2375G>ASubstitution - Missense
GRM3ENSG00000198822ENST00000361669p.V834Ic.2500G>ASubstitution - Missense
KIAA1324LENSG00000164659ENST00000450689p.K854*c.2560A>TSubstitution - Nonsense
OPN1LWENSG00000102076ENST00000369951p.P307Qc.920C>ASubstitution - Missense
SUN1ENSG00000164828ENST00000389574p.F234Fc.702C>TSubstitution - coding silent
ABCB1ENSG00000085563ENST00000265724p.E1159*c.3475G>TSubstitution - Nonsense
RUNDC3BENSG00000105784ENST00000338056p.C202Yc.605G>ASubstitution - Missense
FLNAENSG00000196924ENST00000369850p.D662Dc.1986C>TSubstitution - coding silent
RPL10ENSG00000147403ENST00000369817p.?c.492+1G>TUnknown
PTCHD1ENSG00000165186ENST00000379361p.D663Yc.1987G>TSubstitution - Missense
CNKSR2ENSG00000149970ENST00000379510p.Q868Ec.2602C>GSubstitution - Missense
CXorf23ENSG00000173681ENST00000379687p.S17*c.50C>ASubstitution - Nonsense
MAP7D2ENSG00000184368ENST00000379643p.G713Ac.2138G>CSubstitution - Missense
MAP7D2ENSG00000184368ENST00000379651p.G672Ac.2015G>CSubstitution - Missense
NHSENSG00000188158ENST00000380060p.Y1172*c.3516C>ASubstitution - Nonsense
MAGEB2ENSG00000099399ENST00000378988p.P304Qc.911C>ASubstitution - Missense
MAGEB2ENSG00000099399ENST00000378988p.P304Qc.911C>ASubstitution - Missense
MAGEB2ENSG00000099399ENST00000378988p.H238Pc.713A>CSubstitution - Missense
ENST00000381114p.A2763Dc.8288C>ASubstitution - Missense
ENST00000381114p.A2763Dc.8288C>ASubstitution - Missense
DPP10ENSG00000175497ENST00000310323p.S764Ic.2291G>TSubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.E942Qc.2824G>CSubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.E942Qc.2824G>CSubstitution - Missense
GLI2ENSG00000074047ENST00000361492p.T379Nc.1136C>ASubstitution - Missense
PNKDENSG00000127838ENST00000273077p.R311Lc.932G>TSubstitution - Missense
AMMECR1LENSG00000144233ENST00000272647p.?c.518+3A>TUnknown
ENST00000272666p.T1673Ic.5018C>TSubstitution - Missense
ENST00000272666p.P15Ac.43C>GSubstitution - Missense
MYO7BENSG00000169994ENST00000428314p.?c.592+9C>AUnknown
CCDC108ENSG00000181378ENST00000341552p.G791Sc.2371G>ASubstitution - Missense
PAX3ENSG00000135903ENST00000392069p.L479Lc.1437C>GSubstitution - coding silent
DAW1ENSG00000123977ENST00000309931p.L74Lc.222C>ASubstitution - coding silent
AGFG1ENSG00000173744ENST00000409979p.H329Yc.985C>TSubstitution - Missense
AGFG1ENSG00000173744ENST00000310078p.H305Yc.913C>TSubstitution - Missense
ENST00000328380p.G46Vc.137G>TSubstitution - Missense
CUL3ENSG00000036257ENST00000264414p.D340Yc.1018G>TSubstitution - Missense
PID1ENSG00000153823ENST00000392054p.D147Nc.439G>ASubstitution - Missense
CAMK4ENSG00000152495ENST00000512453p.?c.626-5T>GUnknown
CTNND2ENSG00000169862ENST00000304623p.?c.3212-1G>TUnknown
SLC12A7ENSG00000113504ENST00000264930p.T258Tc.774G>ASubstitution - coding silent
SLC12A7ENSG00000113504ENST00000264930p.?c.1298-10A>TUnknown
FAM173BENSG00000150756ENST00000511437p.V51Lc.151G>TSubstitution - Missense
PPIP5K2ENSG00000145725ENST00000321521p.Q868Ec.2602C>GSubstitution - Missense
GPR97ENSG00000182885ENST00000333493p.F353Lc.1059C>GSubstitution - Missense
TRIM36ENSG00000152503ENST00000282369p.?c.771+10A>GUnknown
TRIM36ENSG00000152503ENST00000282369p.?c.771+10A>GUnknown
HSF4ENSG00000102878ENST00000264009p.Q163Hc.489G>CSubstitution - Missense
CCDC79ENSG00000249961ENST00000433154p.E21Ec.63G>ASubstitution - coding silent
PIGQENSG00000007541ENST00000026218p.P541Lc.1622C>TSubstitution - Missense
CNOT1ENSG00000125107ENST00000317147p.L1370Fc.4110G>TSubstitution - Missense
CNOT1ENSG00000125107ENST00000441024p.L1370Fc.4110G>TSubstitution - Missense
CNOT1ENSG00000125107ENST00000441024p.R232Wc.694C>TSubstitution - Missense
DPEP2ENSG00000167261ENST00000393847p.D154Vc.461A>TSubstitution - Missense
TPPP3ENSG00000159713ENST00000393957p.Y164*c.492C>ASubstitution - Nonsense
KCTD19ENSG00000168676ENST00000304372p.F325Lc.973T>CSubstitution - Missense
KCTD19ENSG00000168676ENST00000304372p.W133*c.398G>ASubstitution - Nonsense
ELMO3ENSG00000102890ENST00000393997p.L392Lc.1176C>TSubstitution - coding silent
ENST00000234388p.V278Vc.834G>TSubstitution - coding silent
C2orf78ENSG00000187833ENST00000409561p.N420Ic.1259A>TSubstitution - Missense
ENST00000342345p.N410Ic.1229A>TSubstitution - Missense
LOXL3ENSG00000115318ENST00000264094p.E123Kc.367G>ASubstitution - Missense
ENST00000290390_v68p.V144Gc.431T>GSubstitution - Missense
ENST00000290390_v68p.P143Pc.429C>ASubstitution - coding silent
SUCLG1ENSG00000163541ENST00000393868p.?c.1014+1G>TUnknown
SUCLG1ENSG00000163541ENST00000393868p.K338Nc.1014G>TSubstitution - Missense
REG1BENSG00000172023ENST00000305089p.S130Sc.390C>TSubstitution - coding silent
CPA3ENSG00000163751ENST00000296046p.M402Ic.1206G>TSubstitution - Missense
GYG1ENSG00000163754ENST00000345003p.C288Cc.864T>CSubstitution - coding silent
CPB1ENSG00000153002ENST00000282957p.Q187Kc.559C>ASubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.L3123Fc.9369A>TSubstitution - Missense
MED12LENSG00000144893ENST00000474524p.Q1549Hc.4647G>CSubstitution - Missense
MMEENSG00000196549ENST00000360490p.E146Vc.437A>TSubstitution - Missense
ENPEPENSG00000138792ENST00000265162p.E687*c.2059G>TSubstitution - Nonsense
EGFENSG00000138798ENST00000265171p.C229Yc.686G>ASubstitution - Missense
IFT80ENSG00000068885ENST00000326448p.L222Mc.664C>ASubstitution - Missense
ENST00000313019p.H126Qc.378C>ASubstitution - Missense
SHOX2ENSG00000168779ENST00000425436p.H291Qc.873C>ASubstitution - Missense
PRSS12ENSG00000164099ENST00000296498p.A266Sc.796G>TSubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.S3196*c.9587C>ASubstitution - Nonsense
ANK2ENSG00000145362ENST00000357077p.G2209Wc.6625G>TSubstitution - Missense
ANK2ENSG00000145362ENST00000357077p.Q2308Qc.6924G>ASubstitution - coding silent
FAT4ENSG00000196159ENST00000394329p.G3039Ac.9116G>CSubstitution - Missense
ENST00000330166p.L1796Pc.5387T>CSubstitution - Missense
BOD1L1ENSG00000038219ENST00000040738p.S628fs*2c.1882_1883insGInsertion - Frameshift
UVSSAENSG00000163945ENST00000389851p.E173Qc.517G>CSubstitution - Missense
LARP1BENSG00000138709ENST00000326639p.K447Nc.1341G>CSubstitution - Missense
LARP1BENSG00000138709ENST00000427266p.K447Nc.1341G>CSubstitution - Missense
TBC1D9BENSG00000197226ENST00000355235p.E152Qc.454G>CSubstitution - Missense
RUFY1ENSG00000176783ENST00000319449p.E625*c.1873G>TSubstitution - Nonsense
RUFY1ENSG00000176783ENST00000437570p.E517*c.1549G>TSubstitution - Nonsense
ADAMTS2ENSG00000087116ENST00000251582p.R255Rc.765G>ASubstitution - coding silent
NM_016358.1p.Y122Nc.364T>ASubstitution - Missense
ADAMTS12ENSG00000151388ENST00000504830p.G1447Vc.4340G>TSubstitution - Missense
DROSHAENSG00000113360ENST00000511367p.H899Dc.2695C>GSubstitution - Missense
MAP3K5ENSG00000197442ENST00000359015p.L192Lc.574C>TSubstitution - coding silent
GRM1ENSG00000152822ENST00000282753p.G1056fs*27c.3165delCDeletion - Frameshift
SYNE1ENSG00000131018ENST00000265368p.G8029Vc.24086G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.G8029Wc.24085G>TSubstitution - Missense
MTHFD1LENSG00000120254ENST00000367321p.G301Vc.902G>TSubstitution - Missense
SASH1ENSG00000111961ENST00000367467p.K86Kc.258A>GSubstitution - coding silent
ADGBENSG00000118492ENST00000397944p.A1066Ac.3198G>ASubstitution - coding silent
CENPEENSG00000138778ENST00000265148p.R967Lc.2900G>TSubstitution - Missense
SEC24BENSG00000138802ENST00000399100p.S238Lc.713C>TSubstitution - Missense
SEC24BENSG00000138802ENST00000265175p.R328Tc.983G>CSubstitution - Missense
SEC24BENSG00000138802ENST00000399100p.R328Tc.983G>CSubstitution - Missense
PAQR3ENSG00000163291ENST00000511594p.R138Qc.413G>ASubstitution - Missense
ABLIM2ENSG00000163995ENST00000447017p.?c.1169-1G>CUnknown
CCSER1ENSG00000184305ENST00000509176p.G5Vc.14G>TSubstitution - Missense
CCSER1ENSG00000184305ENST00000509176p.G5Vc.14G>TSubstitution - Missense
MMRN1ENSG00000138722ENST00000394980p.R709Lc.2126G>TSubstitution - Missense
ABCG2ENSG00000118777ENST00000237612p.S219Cc.655A>TSubstitution - Missense
NM_016323.1p.R334Sc.1000C>ASubstitution - Missense
NM_016323.1p.D402Yc.1204G>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.E229*c.685G>TSubstitution - Nonsense
NM_006904p.M939Vc.2815A>GSubstitution - Missense
ENST00000354247p.R95Sc.285G>TSubstitution - Missense
POMKENSG00000185900ENST00000331373p.D271Nc.811G>ASubstitution - Missense
POMKENSG00000185900ENST00000331373p.D271Nc.811G>ASubstitution - Missense
XM_372202.2p.I484Tc.1451T>CSubstitution - Missense
FAM47BENSG00000189132ENST00000329357p.E160*c.478G>TSubstitution - Nonsense
USP9XENSG00000124486ENST00000324545p.W671Sc.2012G>CSubstitution - Missense
RBM3ENSG00000102317ENST00000354480p.E63Qc.187G>CSubstitution - Missense
HUWE1ENSG00000086758ENST00000342160p.?c.3381-2A>TUnknown
XM_497119.1p.?c.2970-2A>TUnknown
XM_291345.2p.R1119Cc.3355C>TSubstitution - Missense
IQSEC2ENSG00000124313ENST00000375365p.S34*c.101C>GSubstitution - Nonsense
NLRP11ENSG00000179873ENST00000443188p.L15Lc.43C>TSubstitution - coding silent
NLRP4ENSG00000160505ENST00000301295p.T96_S112del17c.285_335del51Deletion - In frame
NLRP4ENSG00000160505ENST00000587891p.T21_S37del17c.60_110del51Deletion - In frame
RFPL4AENSG00000223638ENST00000434937p.D156Ac.467A>CSubstitution - Missense
ZNF580ENSG00000213015ENST00000325333p.G87Rc.259G>CSubstitution - Missense
ZNF71ENSG00000197951ENST00000328070p.R141Gc.421C>GSubstitution - Missense
NLRP8ENSG00000179709ENST00000291971p.S604Tc.1811G>CSubstitution - Missense
USP29ENSG00000131864ENST00000254181p.R636Gc.1906A>GSubstitution - Missense
ENSG00000176593ENST00000313957p.P25Hc.74C>ASubstitution - Missense
ENSG00000176593ENST00000313957p.P25Hc.74C>ASubstitution - Missense
ZNF417ENSG00000173480ENST00000312026p.R83Gc.247A>GSubstitution - Missense
ZSCAN4ENSG00000180532ENST00000318203p.D180Gc.539A>GSubstitution - Missense
ABCA10ENSG00000154263ENST00000269081p.?c.672+9G>TUnknown
ABCA6ENSG00000154262ENST00000284425p.R1261*c.3781A>TSubstitution - Nonsense
CTDNEP1ENSG00000175826ENST00000318988p.D143Nc.427G>ASubstitution - Missense
ACADVLENSG00000072778ENST00000356839p.?c.278-6C>GUnknown
SLC16A13ENSG00000174327ENST00000308027p.V15Lc.43G>CSubstitution - Missense
TMEM104ENSG00000109066ENST00000335464p.A429Ac.1287G>TSubstitution - coding silent
CD300LBENSG00000178789ENST00000392621p.E217Kc.649G>ASubstitution - Missense
TBC1D8ENSG00000204634ENST00000409318p.P61Ac.181C>GSubstitution - Missense
LONRF2ENSG00000170500ENST00000393437p.P404Pc.1212G>TSubstitution - coding silent
REV1ENSG00000135945ENST00000258428p.L938Qc.2813T>ASubstitution - Missense
AFF3ENSG00000144218ENST00000356421p.?c.3360+9T>AUnknown
SULT1C2ENSG00000198203ENST00000326853p.P23Pc.69T>CSubstitution - coding silent
RGPD3ENSG00000153165ENST00000409886p.K123Ic.368A>TSubstitution - Missense
FHL2ENSG00000115641ENST00000409177p.C28Fc.83G>TSubstitution - Missense
GPR45ENSG00000135973ENST00000258456p.P32Tc.94C>ASubstitution - Missense
CNTN4ENSG00000144619ENST00000418658p.A290Ac.870T>ASubstitution - coding silent
TGFBR2ENSG00000163513ENST00000359013p.P154fs*3c.455_456insGInsertion - Frameshift
RANBP2ENSG00000153201ENST00000283195p.M346Ic.1038G>TSubstitution - Missense
GOLGA4ENSG00000144674ENST00000361924p.H771Lc.2312A>TSubstitution - Missense
ITGA9ENSG00000144668ENST00000264741p.G502Vc.1505G>TSubstitution - Missense
ZNF705AENSG00000196946ENST00000402465p.R270Mc.809G>TSubstitution - Missense
ENSG00000219492ENST00000508324p.R198Mc.593G>TSubstitution - Missense
ENST00000508324_v68p.R198Mc.593G>TSubstitution - Missense
ZNF705AENSG00000196946ENST00000402465p.N191Kc.573T>ASubstitution - Missense
ENSG00000219492ENST00000508324p.N119Kc.357T>ASubstitution - Missense
ENST00000543338p.P487Pc.1461G>TSubstitution - coding silent
TSSK1BENSG00000212122ENST00000390666p.A4Tc.10G>ASubstitution - Missense
SHISA6ENSG00000188803ENST00000441885p.R379Tc.1136G>CSubstitution - Missense
SHISA6ENSG00000188803ENST00000432116p.R360Tc.1079G>CSubstitution - Missense
MYH3ENSG00000109063ENST00000226209p.G633Vc.1898G>TSubstitution - Missense
MYH2ENSG00000125414ENST00000245503p.A968fs*14c.2902delGDeletion - Frameshift
MYH1ENSG00000109061ENST00000226207p.N394Kc.1182C>GSubstitution - Missense
ZNF534ENSG00000198633ENST00000332323p.R177Rc.531A>GSubstitution - coding silent
PTPRSENSG00000105426ENST00000357368p.G25Ac.74G>CSubstitution - Missense
ZNF841ENSG00000197608ENST00000389534p.N108Kc.324C>GSubstitution - Missense
ZNF841ENSG00000197608ENST00000389534p.N108Kc.324C>GSubstitution - Missense
ZNF615ENSG00000197619ENST00000376716p.A653Ac.1959A>GSubstitution - coding silent
FPR3ENSG00000187474ENST00000339223p.A332Dc.995C>ASubstitution - Missense
ZNF577ENSG00000161551ENST00000301399p.R253Rc.759G>TSubstitution - coding silent
ZNF577ENSG00000161551ENST00000301399p.R253Qc.758G>ASubstitution - Missense
ENST00000338885p.A237Gc.710C>GSubstitution - Missense
ZNF611ENSG00000213020ENST00000319783p.A187Sc.559G>TSubstitution - Missense
ZNF28ENSG00000198538ENST00000457749p.E512*c.1534G>TSubstitution - Nonsense
ZNF28ENSG00000198538ENST00000438150p.E459*c.1375G>TSubstitution - Nonsense
ZNF600ENSG00000189190ENST00000360272p.E459*c.1375G>TSubstitution - Nonsense
LILRB5ENSG00000105609ENST00000450632p.Q543Hc.1629G>CSubstitution - Missense
CNOT3ENSG00000088038ENST00000358389p.G307Wc.919G>TSubstitution - Missense
PRKCGENSG00000126583ENST00000263431p.E561Qc.1681G>CSubstitution - Missense
PRKCGENSG00000126583ENST00000540413p.E561Qc.1681G>CSubstitution - Missense
CACNG7ENSG00000105605ENST00000391767p.A8Sc.22G>TSubstitution - Missense
OGFRENSG00000060491ENST00000290291p.R281fs*97c.842delGDeletion - Frameshift
ENST00000370468p.R281fs*97c.842delGDeletion - Frameshift
OGFRENSG00000060491ENST00000370461p.L372Lc.1116C>GSubstitution - coding silent
ENST00000370468p.L424Lc.1272C>GSubstitution - coding silent
FERMT1ENSG00000101311ENST00000217289p.A60Tc.178G>ASubstitution - Missense
ENST00000339538p.A60Tc.178G>ASubstitution - Missense
ENST00000339538p.Q25Kc.73C>ASubstitution - Missense
TCEA2ENSG00000171703ENST00000343484p.R277Cc.829C>TSubstitution - Missense
TPD52L2ENSG00000101150ENST00000217121p.A44Vc.131C>TSubstitution - Missense
TPD52L2ENSG00000101150ENST00000217121p.L223Mc.667C>ASubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.E490Ec.1470G>ASubstitution - coding silent
PAK7ENSG00000101349ENST00000378429p.P227Lc.680C>TSubstitution - Missense
TPTEENSG00000166157ENST00000298232p.*534Yc.1602A>CNonstop extension
NM_000933.2p.S421Yc.1262C>ASubstitution - Missense
MYT1ENSG00000196132ENST00000536311p.?c.397+8G>TUnknown
POTEDENSG00000166351ENST00000299443p.E282Qc.844G>CSubstitution - Missense
CADENSG00000084774ENST00000264705p.?c.4074+4C>AUnknown
FBXO7ENSG00000100225ENST00000266087p.A148Tc.442G>ASubstitution - Missense
FBXO7ENSG00000100225ENST00000266087p.A148Tc.442G>ASubstitution - Missense
FBXO7ENSG00000100225ENST00000382058p.T392Tc.1176G>TSubstitution - coding silent
CAPN13ENSG00000162949ENST00000295055p.?c.1723-8C>TUnknown
CAPN13ENSG00000162949ENST00000295055p.Q5Rc.14A>GSubstitution - Missense
NM_206943.1p.L963Lc.2889G>ASubstitution - coding silent
LTBP1ENSG00000049323ENST00000407925p.R752Tc.2255G>CSubstitution - Missense
XDHENSG00000158125ENST00000379416p.A785Ac.2355A>TSubstitution - coding silent
XDHENSG00000158125ENST00000379416p.?c.1242+3G>CUnknown
ENST00000405167p.G3900Dc.11699G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2799Sc.8395A>TSubstitution - Missense
ENST00000405167p.T2799Sc.8395A>TSubstitution - Missense
TNK2ENSG00000061938ENST00000333602p.R25Wc.73C>TSubstitution - Missense
TNK2ENSG00000061938ENST00000333602p.R25Wc.73C>TSubstitution - Missense
TNK2ENSG00000061938ENST00000381916p.V700Vc.2100G>TSubstitution - coding silent
TNK2ENSG00000061938ENST00000333602p.V622Vc.1866G>TSubstitution - coding silent
ZNF385DENSG00000151789ENST00000281523p.P254Tc.760C>ASubstitution - Missense
NRROSENSG00000174004ENST00000328557p.C599Fc.1796G>TSubstitution - Missense
SENP5ENSG00000119231ENST00000323460p.Q151Lc.452A>TSubstitution - Missense
ADH6ENSG00000172955ENST00000237653p.L67Fc.201G>TSubstitution - Missense
FILIP1LENSG00000168386ENST00000331335p.Q132Rc.395A>GSubstitution - Missense
ENST00000336674p.Q464Kc.1390C>ASubstitution - Missense
ZNF518BENSG00000178163ENST00000326756p.P365Qc.1094C>ASubstitution - Missense
CENPEENSG00000138778ENST00000265148p.R1256Gc.3766A>GSubstitution - Missense
ENST00000356127p.V29313Ec.87938T>ASubstitution - Missense
NM_003319p.V22818Ec.68453T>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.G20843Vc.62528G>TSubstitution - Missense
ENST00000356127p.G20841Vc.62522G>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.G14538Vc.43613G>TSubstitution - Missense
NM_003319p.G14346Vc.43037G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.L22946Ic.68836C>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.L16574Ic.49720C>ASubstitution - Missense
ENST00000356127p.L22944Ic.68830C>ASubstitution - Missense
NM_003319p.L16449Ic.49345C>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.K19985Kc.59955G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.K13613Kc.40839G>ASubstitution - coding silent
ENST00000356127p.K19983Kc.59949G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.K13680Kc.41040G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.P9329Hc.27986C>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.R5245Kc.15734G>ASubstitution - Missense
ENST00000356127p.R11617Kc.34850G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.H5397Rc.16190A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.H5464Rc.16391A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.A13687Sc.41059G>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.A7382Sc.22144G>TSubstitution - Missense
NM_003319p.A7190Sc.21568G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.L8557Ic.25669C>ASubstitution - Missense
ENST00000356127p.L8557Ic.25669C>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.K10090Kc.30270G>ASubstitution - coding silent
ENST00000356127p.K10090Kc.30270G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.?c.32516-1G>TUnknown
ENST00000356127p.?c.32516-1G>TUnknown
NM_153697.1p.R520Mc.1559G>TSubstitution - Missense
ANKRD44ENSG00000065413ENST00000282272p.R537Mc.1610G>TSubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.S1663Sc.4989C>ASubstitution - coding silent
DNAH7ENSG00000118997ENST00000312428p.D3715Yc.11143G>TSubstitution - Missense
NIF3L1ENSG00000196290ENST00000359683p.E48Kc.142G>ASubstitution - Missense
PLCL1ENSG00000115896ENST00000428675p.T848Tc.2544T>CSubstitution - coding silent
NM_006226.1p.T750Tc.2250T>CSubstitution - coding silent
PER2ENSG00000132326ENST00000254657p.P245Rc.734C>GSubstitution - Missense
ANO7ENSG00000146205ENST00000274979p.D31Ec.93C>GSubstitution - Missense
ANO7ENSG00000146205ENST00000402430p.D31Ec.93C>GSubstitution - Missense
PER2ENSG00000132326ENST00000254657p.E569*c.1705G>TSubstitution - Nonsense
NCOA1ENSG00000084676ENST00000406961p.P373Sc.1117C>TSubstitution - Missense
NCOA1ENSG00000084676ENST00000405141p.P373Sc.1117C>TSubstitution - Missense
ITSN2ENSG00000198399ENST00000355123p.?c.2258-2A>CUnknown
ITSN2ENSG00000198399ENST00000406921p.?c.2258-2A>CUnknown
ITSN2ENSG00000198399ENST00000355123p.Q545Ec.1633C>GSubstitution - Missense
NEU4ENSG00000204099ENST00000325935p.R30Mc.89G>TSubstitution - Missense
ATG4BENSG00000168397ENST00000404914p.?c.957+9C>TUnknown
MFSD2BENSG00000205639ENST00000406420p.W144Rc.430T>CSubstitution - Missense
SLC35F6ENSG00000213699ENST00000344420p.A28Ac.84G>CSubstitution - coding silent
DRC1ENSG00000157856ENST00000288710p.Y544*c.1632T>ASubstitution - Nonsense
CREBBPENSG00000005339ENST00000262367p.Q2273Qc.6819G>ASubstitution - coding silent
ENST00000411420p.T47Nc.140C>ASubstitution - Missense
OR1F1ENSG00000168124ENST00000304646p.L162Lc.486G>ASubstitution - coding silent
C16orf95ENSG00000260456ENST00000253461p.?c.204+5G>TUnknown
IRF8ENSG00000140968ENST00000268638p.C169Sc.505T>ASubstitution - Missense
ITFG1ENSG00000129636ENST00000320640p.G486Cc.1456G>TSubstitution - Missense
SPATA2LENSG00000158792ENST00000289805p.E339Kc.1015G>ASubstitution - Missense
PIEZO1ENSG00000103335ENST00000301015p.L1805Fc.5413C>TSubstitution - Missense
PIEZO1ENSG00000103335ENST00000301015p.G1579Gc.4737C>ASubstitution - coding silent
ZC3H18ENSG00000158545ENST00000301011p.G920Gc.2760G>ASubstitution - coding silent
GRIN2AENSG00000183454ENST00000396573p.Q1134Hc.3402G>TSubstitution - Missense
ENST00000570743p.D1656Yc.4966G>TSubstitution - Missense
SIGLEC6ENSG00000105492ENST00000425629p.V85Vc.255G>ASubstitution - coding silent
SIGLEC6ENSG00000105492ENST00000425629p.P18Hc.53C>ASubstitution - Missense
SIGLEC6ENSG00000105492ENST00000346477p.P7Hc.20C>ASubstitution - Missense
KIF13AENSG00000137177ENST00000259711p.D1629Hc.4885G>CSubstitution - Missense
SLC17A2ENSG00000112337ENST00000360488p.A173Sc.517G>TSubstitution - Missense
LRRC16AENSG00000079691ENST00000377969p.E32Dc.96A>TSubstitution - Missense
TDP2ENSG00000111802ENST00000378198p.P348Rc.1043C>GSubstitution - Missense
FAM180AENSG00000189320ENST00000338588p.L118Hc.353T>ASubstitution - Missense
NUP205ENSG00000155561ENST00000285968p.R984Tc.2951G>CSubstitution - Missense
KDM7AENSG00000006459ENST00000397560p.V846Vc.2538G>TSubstitution - coding silent
TBXAS1ENSG00000059377ENST00000416849p.D345Hc.1033G>CSubstitution - Missense
TBXAS1ENSG00000059377ENST00000263552p.D299Hc.895G>CSubstitution - Missense
EPHB6ENSG00000106123ENST00000392957p.G820Cc.2458G>TSubstitution - Missense
COL1A2ENSG00000164692ENST00000297268p.A731Sc.2191G>TSubstitution - Missense
COL1A2ENSG00000164692ENST00000297268p.R1258Pc.3773G>CSubstitution - Missense
COL1A2ENSG00000164692ENST00000297268p.D509Yc.1525G>TSubstitution - Missense
KRIT1ENSG00000001631ENST00000394507p.D320Yc.958G>TSubstitution - Missense
TRRAPENSG00000196367ENST00000359863p.L3793Vc.11377C>GSubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.?c.5259+3G>AUnknown
SU_Erk7p.G444Gc.1332G>CSubstitution - coding silent
GSDMDENSG00000104518ENST00000262580p.V94Ec.281T>ASubstitution - Missense
ZNF655ENSG00000197343ENST00000424881p.C375Yc.1124G>ASubstitution - Missense
PTCD1ENSG00000106246ENST00000555673p.E49Qc.145G>CSubstitution - Missense
PLECENSG00000178209ENST00000322810p.G4337Vc.13010G>TSubstitution - Missense
PLECENSG00000178209ENST00000345136p.G4200Vc.12599G>TSubstitution - Missense
NM_004260.1p.R647Cc.1939C>TSubstitution - Missense
MROH1ENSG00000179832ENST00000528919p.V24Lc.70G>TSubstitution - Missense
MROH1ENSG00000179832ENST00000423230p.V24Lc.70G>TSubstitution - Missense
MROH1ENSG00000179832ENST00000423230p.R386Tc.1157G>CSubstitution - Missense
LRRC14ENSG00000160959ENST00000292524p.F318Fc.954C>TSubstitution - coding silent
PREX2ENSG00000046889ENST00000288368p.H807Rc.2420A>GSubstitution - Missense
ENST00000354677p.G431Gc.1293C>GSubstitution - coding silent
NM_004133.3p.E80Dc.240A>CSubstitution - Missense
RDH10ENSG00000121039ENST00000240285p.E259Qc.775G>CSubstitution - Missense
KCNB2ENSG00000182674ENST00000523207p.S16Sc.48G>TSubstitution - coding silent
NM_007332.1p.C703Fc.2108G>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.A1760Dc.5279C>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.I1246Mc.3738C>GSubstitution - Missense
RPL17-C18orf32ENSG00000215472ENST00000577910p.E89Ec.267A>GSubstitution - coding silent
RPL17ENSG00000265681ENST00000579408p.E89Ec.267A>GSubstitution - coding silent
POLIENSG00000101751ENST00000579534p.N72Yc.214A>TSubstitution - Missense
NM_007195.1p.N47Yc.139A>TSubstitution - Missense
SYT5ENSG00000129990ENST00000354308p.V210Mc.628G>ASubstitution - Missense
EPS8L1ENSG00000131037ENST00000245618p.N2Sc.5A>GSubstitution - Missense
NLRP7ENSG00000167634ENST00000328092p.R302Gc.904C>GSubstitution - Missense
KIR2DS4ENSG00000221957ENST00000391729p.W180Cc.540G>TSubstitution - Missense
KIR3DL2ENSG00000240403ENST00000326321p.I215Fc.643A>TSubstitution - Missense
DEFB119ENSG00000180483ENST00000339144p.G43Wc.127G>TSubstitution - Missense
ENST00000278882_v61p.H151fs*5c.451_453CAC>AAComplex - frameshift
TMC2ENSG00000149488ENST00000358864p.L871Hc.2612T>ASubstitution - Missense
NANPENSG00000170191ENST00000304788p.P223Pc.669G>TSubstitution - coding silent
ENST00000201961_v71p.?c.308-4C>TUnknown
C20orf112ENSG00000197183ENST00000375678p.?c.185-4C>TUnknown
KIF3BENSG00000101350ENST00000375712p.A257Ac.771A>TSubstitution - coding silent
PDRG1ENSG00000088356ENST00000202017p.E7Qc.19G>CSubstitution - Missense
ENST00000217299p.R383Lc.1148G>TSubstitution - Missense
CCT8L2ENSG00000198445ENST00000359963p.E29Ec.87G>ASubstitution - coding silent
FASTKD5ENSG00000215251ENST00000380266p.F373Lc.1119C>GSubstitution - Missense
SP9ENSG00000217236ENST00000394967p.E38Vc.113A>TSubstitution - Missense
CDCA7ENSG00000144354ENST00000306721p.V82Mc.244G>ASubstitution - Missense
TLK1ENSG00000198586ENST00000431350p.?c.1236+7G>CUnknown
NM_012290p.?c.1092+7G>CUnknown
TRMT2AENSG00000099899ENST00000252136p.E185Qc.553G>CSubstitution - Missense
TRMT2AENSG00000099899ENST00000404751p.E185Qc.553G>CSubstitution - Missense
CHN1ENSG00000128656ENST00000409900p.E38*c.112G>TSubstitution - Nonsense
TTNENSG00000155657ENST00000342175p.T25484Sc.76450A>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.V22943Ec.68828T>ASubstitution - Missense
TMPRSS11FENSG00000198092ENST00000356291p.Q232Hc.696G>TSubstitution - Missense
THUMPD3ENSG00000134077ENST00000452837p.V465Vc.1395G>ASubstitution - coding silent
THUMPD3ENSG00000134077ENST00000452837p.D466Hc.1396G>CSubstitution - Missense
THUMPD3ENSG00000134077ENST00000452837p.?c.1523_1524GA>AAAAAAUnknown
C3orf38ENSG00000179021ENST00000318887p.D327Vc.980A>TSubstitution - Missense
UGT2A1ENSG00000173610ENST00000503640p.G308Vc.923G>TSubstitution - Missense
TADA2BENSG00000173011ENST00000310074p.D379Yc.1135G>TSubstitution - Missense
UGT2B28ENSG00000135226ENST00000335568p.T503Nc.1508C>ASubstitution - Missense
UGT2B15ENSG00000196620ENST00000338206p.D276Hc.826G>CSubstitution - Missense
TMPRSS11BENSG00000185873ENST00000332644p.A65Gc.194C>GSubstitution - Missense
NM_032217.3p.G597Rc.1789G>ASubstitution - Missense
CABS1ENSG00000145309ENST00000273936p.P180fs*9c.538delCDeletion - Frameshift
RAB11FIP3ENSG00000090565ENST00000457159p.P425Sc.1273C>TSubstitution - Missense
C16orf89ENSG00000153446ENST00000472572p.G64Ec.191G>ASubstitution - Missense
NOD2ENSG00000167207ENST00000300589p.F384Lc.1152C>GSubstitution - Missense
BRD7ENSG00000166164ENST00000394688p.L240Vc.718C>GSubstitution - Missense
ZNF423ENSG00000102935ENST00000262383p.Q51Qc.153A>GSubstitution - coding silent
NLRC5ENSG00000140853ENST00000262510p.G1043Ac.3128G>CSubstitution - Missense
SLC12A3ENSG00000070915ENST00000438926p.D766Yc.2296G>TSubstitution - Missense
AMFRENSG00000159461ENST00000290649p.M322Lc.964A>CSubstitution - Missense
CES5AENSG00000159398ENST00000521992p.?c.1584-7C>TUnknown
CES5AENSG00000159398ENST00000319165p.?c.1347-7C>TUnknown
SLC6A2ENSG00000103546ENST00000379906p.?c.644+3A>GUnknown
CES1ENSG00000198848ENST00000360526p.H242Qc.726C>ASubstitution - Missense
WIPF2ENSG00000171475ENST00000323571p.S305Cc.914C>GSubstitution - Missense
ERBB2ENSG00000141736ENST00000269571p.S1007*c.3020C>GSubstitution - Nonsense
NM_016507p.R329Rc.987A>TSubstitution - coding silent
FBXL20ENSG00000108306ENST00000583610p.A133Tc.397G>ASubstitution - Missense
ENST00000377734p.R41Sc.121C>ASubstitution - Missense
NCAM2ENSG00000154654ENST00000400546p.E654Qc.1960G>CSubstitution - Missense
TMPRSS15ENSG00000154646ENST00000284885p.A704Dc.2111C>ASubstitution - Missense
TMPRSS15ENSG00000154646ENST00000284885p.Y430Fc.1289A>TSubstitution - Missense
KRTAP9-7ENSG00000180386ENST00000391354p.P118Hc.353C>ASubstitution - Missense
KRTAP25-1ENSG00000232263ENST00000416044p.H2Rc.5A>GSubstitution - Missense
ATP5JENSG00000154723ENST00000400087p.P106Lc.317C>TSubstitution - Missense
PAXBP1ENSG00000159086ENST00000331923p.R532Lc.1595G>TSubstitution - Missense
KRTAP21-1ENSG00000187005ENST00000335093p.C79Sc.235T>ASubstitution - Missense
HTTENSG00000197386ENST00000355072p.S3029Sc.9087G>CSubstitution - coding silent
NM_032457.1p.K1152*c.3454A>TSubstitution - Nonsense
HTTENSG00000197386ENST00000355072p.T374Tc.1122C>TSubstitution - coding silent
TTC3ENSG00000182670ENST00000354749p.D1076Hc.3226G>CSubstitution - Missense
LIMCH1ENSG00000064042ENST00000313860p.Q762Hc.2286G>TSubstitution - Missense
LIMCH1ENSG00000064042ENST00000512820p.?c.2323-1G>TUnknown
GABRG1ENSG00000163285ENST00000295452p.D229Nc.685G>ASubstitution - Missense
GABRA2ENSG00000151834ENST00000356504p.Y8Cc.23A>GSubstitution - Missense
GABRA4ENSG00000109158ENST00000264318p.T457Ac.1369A>GSubstitution - Missense
ZNF721ENSG00000182903ENST00000338977p.S477Tc.1430G>CSubstitution - Missense
OTOP1ENSG00000163982ENST00000296358p.L357Mc.1069C>ASubstitution - Missense
TECENSG00000135605ENST00000381501p.G476Vc.1427G>TSubstitution - Missense
ATP10DENSG00000145246ENST00000273859p.R824Rc.2472G>ASubstitution - coding silent
ZMYND10ENSG00000004838ENST00000231749p.V134Vc.402C>GSubstitution - coding silent
NPRL2ENSG00000114388ENST00000232501p.D30Hc.88G>CSubstitution - Missense
MON1AENSG00000164077ENST00000296473p.A147Tc.439G>ASubstitution - Missense
RRP9ENSG00000114767ENST00000232888p.P313Sc.937C>TSubstitution - Missense
RBM15BENSG00000179837ENST00000323686p.T872Tc.2616A>TSubstitution - coding silent
ENST00000273612p.P1044Ac.3130C>GSubstitution - Missense
C3orf18ENSG00000088543ENST00000357203p.N45Tc.134A>CSubstitution - Missense
STAB1ENSG00000010327ENST00000321725p.A2431Ac.7293C>ASubstitution - coding silent
DNAH1ENSG00000114841ENST00000420323p.G3149Vc.9446G>TSubstitution - Missense
ENST00000273600p.G3213Vc.9638G>TSubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.?c.12442-10C>GUnknown
ENST00000273600p.R3115Lc.9344G>TSubstitution - Missense
KAAG1ENSG00000146049ENST00000274766p.Q45*c.133C>TSubstitution - Nonsense
MBOAT1ENSG00000172197ENST00000324607p.A309Sc.925G>TSubstitution - Missense
SFTPCENSG00000168484ENST00000318561p.E191Dc.573G>CSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.Q3104Hc.9312G>TSubstitution - Missense
ENST00000318252p.Q2833Hc.8499G>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.D3039Yc.9115G>TSubstitution - Missense
ENST00000318252p.D2768Yc.8302G>TSubstitution - Missense
DCAF4L2ENSG00000176566ENST00000319675p.G148fs*18c.443delGDeletion - Frameshift
MMP16ENSG00000156103ENST00000286614p.V448Vc.1344C>ASubstitution - coding silent
RUNX1T1ENSG00000079102ENST00000265814p.S574Rc.1722C>ASubstitution - Missense
PTDSS1ENSG00000156471ENST00000517309p.V391Lc.1171G>TSubstitution - Missense
ENST00000310218p.E70Qc.208G>CSubstitution - Missense
BCAS3ENSG00000141376ENST00000390652p.D873Vc.2618A>TSubstitution - Missense
ENST00000375112p.V334Gc.1001T>GSubstitution - Missense
CSHL1ENSG00000204414ENST00000309894p.L124Lc.372C>GSubstitution - coding silent
TANC2ENSG00000170921ENST00000389520p.E529Gc.1586A>GSubstitution - Missense
GEMIN4ENSG00000179409ENST00000319004p.P749Pc.2247G>TSubstitution - coding silent
GEMIN4ENSG00000179409ENST00000319004p.P749Pc.2247G>TSubstitution - coding silent
ERN1ENSG00000178607ENST00000433197p.?c.2401+7G>TUnknown
MAP2K3ENSG00000034152ENST00000361818p.P209Qc.626C>ASubstitution - Missense
ENST00000425519p.Q824fs*7c.2467_2468delACDeletion - Frameshift
SLC13A5ENSG00000141485ENST00000433363p.E461Dc.1383G>CSubstitution - Missense
BPTFENSG00000171634ENST00000306378p.T2045Tc.6135C>TSubstitution - coding silent
BPTFENSG00000171634ENST00000335221p.T2171Tc.6513C>TSubstitution - coding silent
NOL11ENSG00000130935ENST00000253247p.Q116Lc.347A>TSubstitution - Missense
NOS2ENSG00000007171ENST00000313735p.L697Lc.2091C>GSubstitution - coding silent
CBX8ENSG00000141570ENST00000269385p.V373Vc.1119C>TSubstitution - coding silent
RAP1GAP2ENSG00000132359ENST00000254695p.T172Tc.516C>TSubstitution - coding silent
TAOK1ENSG00000160551ENST00000261716p.Y406Dc.1216T>GSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.G44Cc.130G>TSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.G44Cc.130G>TSubstitution - Missense
RPTORENSG00000141564ENST00000306801p.A838Sc.2512G>TSubstitution - Missense
FASNENSG00000169710ENST00000306749p.E439Qc.1315G>CSubstitution - Missense
ALOXE3ENSG00000179148ENST00000318227p.Q808*c.2422C>TSubstitution - Nonsense
GPS1ENSG00000169727ENST00000355130p.S44Wc.131C>GSubstitution - Missense
ASPSCR1ENSG00000169696ENST00000306729p.S589Cc.1766C>GSubstitution - Missense
NPLOC4ENSG00000182446ENST00000331134p.Y122Yc.366C>TSubstitution - coding silent
ENST00000328585_v65p.V301Vc.903G>TSubstitution - coding silent
ACTG1ENSG00000184009ENST00000331925p.G158Wc.472G>TSubstitution - Missense
OSBPL1AENSG00000141447ENST00000319481p.L242Lc.726C>ASubstitution - coding silent
PER1ENSG00000179094ENST00000317276p.?c.1128-3C>GUnknown
HEXDCENSG00000169660ENST00000337014p.L409Lc.1225C>TSubstitution - coding silent
CDH2ENSG00000170558ENST00000269141p.P175Hc.524C>ASubstitution - Missense
DTNAENSG00000134769ENST00000444659p.?c.1662+8C>AUnknown
ASXL3ENSG00000141431ENST00000269197p.W243Cc.729G>TSubstitution - Missense
KLHL14ENSG00000197705ENST00000359358p.C593Sc.1777T>ASubstitution - Missense
PDE4AENSG00000065989ENST00000440014p.A112Vc.335C>TSubstitution - Missense
ZNF653ENSG00000161914ENST00000293771p.D589Nc.1765G>ASubstitution - Missense
TSPAN16ENSG00000130167ENST00000316737p.D192Ec.576T>ASubstitution - Missense
SBNO2ENSG00000064932ENST00000361757p.T887Tc.2661G>TSubstitution - coding silent
ENST00000250872p.T894Tc.2682G>TSubstitution - coding silent
MIDNENSG00000167470ENST00000300952p.Q128Hc.384G>TSubstitution - Missense
DSCAMENSG00000171587ENST00000400454p.N912Yc.2734A>TSubstitution - Missense
BRWD1ENSG00000185658ENST00000333229p.?c.3320+5G>TUnknown
ENST00000360228_v70p.D1728Hc.5182G>CSubstitution - Missense
CACNA1AENSG00000141837ENST00000360228p.D1728Hc.5182G>CSubstitution - Missense
CBSENSG00000160200ENST00000398158p.T191Tc.573G>TSubstitution - coding silent
CBSENSG00000160200ENST00000398168p.T191Tc.573G>TSubstitution - coding silent
TMPRSS3ENSG00000160183ENST00000291532p.C242*c.726C>ASubstitution - Nonsense
ASAP2ENSG00000151693ENST00000281419p.C459Fc.1376G>TSubstitution - Missense
SPATC1LENSG00000160284ENST00000330205p.S10Lc.29C>TSubstitution - Missense
ASAP2ENSG00000151693ENST00000281419p.G461Vc.1382G>TSubstitution - Missense
KANSL3ENSG00000114982ENST00000431828p.I351Mc.1053T>GSubstitution - Missense
NCAPHENSG00000121152ENST00000240423p.K641Nc.1923G>CSubstitution - Missense
CIAO1ENSG00000144021ENST00000488633p.R216Lc.647G>TSubstitution - Missense
KIAA0232ENSG00000170871ENST00000307659p.W1287Lc.3860G>TSubstitution - Missense
BCL2L12ENSG00000126453ENST00000246785p.Q199Pc.596A>CSubstitution - Missense
RCN3ENSG00000142552ENST00000270645p.Q36Lc.107A>TSubstitution - Missense
KLK3ENSG00000142515ENST00000326003p.G156Cc.466G>TSubstitution - Missense
SHANK1ENSG00000161681ENST00000293441p.S1148*c.3443C>ASubstitution - Nonsense
SHANK1ENSG00000161681ENST00000391813p.S535*c.1604C>ASubstitution - Nonsense
EMC10ENSG00000161671ENST00000376918p.R99Rc.297G>TSubstitution - coding silent
LILRA2ENSG00000239998ENST00000251376p.F180Fc.540C>TSubstitution - coding silent
LILRA1ENSG00000104974ENST00000251372p.R179Wc.535C>TSubstitution - Missense
LENG9ENSG00000182909ENST00000333834p.P368Qc.1103C>ASubstitution - Missense
ENST00000333834_v70p.P390Tc.1168C>ASubstitution - Missense
LAIR2ENSG00000167618ENST00000301202p.E111Ec.333G>ASubstitution - coding silent
LAIR1ENSG00000167613ENST00000391742p.?c.718-9C>TUnknown
SIGLEC8ENSG00000105366ENST00000321424p.A90Gc.269C>GSubstitution - Missense
CEACAM18ENSG00000213822ENST00000451626p.?c.236-5T>GUnknown
LIM2ENSG00000105370ENST00000221973p.R32Rc.96G>TSubstitution - coding silent
BPIFB3ENSG00000186190ENST00000375494p.L360Lc.1080C>TSubstitution - coding silent
LILRB4ENSG00000186818ENST00000391736p.P376Pc.1128C>ASubstitution - coding silent
LILRB1ENSG00000104972ENST00000396331p.P3Pc.9C>ASubstitution - coding silent
EPB41L1ENSG00000088367ENST00000338074p.K66Tc.197A>CSubstitution - Missense
RBM39ENSG00000131051ENST00000253363p.P137Pc.411T>ASubstitution - coding silent
ATRNENSG00000088812ENST00000262919p.T1217Tc.3651C>ASubstitution - coding silent
ENST00000237536_v68p.Q742Rc.2225A>GSubstitution - Missense
SOGA1ENSG00000149639ENST00000279034p.Q504Rc.1511A>GSubstitution - Missense
ENST00000237536_v68p.G756Wc.2266G>TSubstitution - Missense
SOGA1ENSG00000149639ENST00000237536p.G756Wc.2266G>TSubstitution - Missense
BPIENSG00000101425ENST00000262865p.Q204Hc.612G>TSubstitution - Missense
SIGLEC1ENSG00000088827ENST00000344754p.P763Tc.2287C>ASubstitution - Missense
B4GALT5ENSG00000158470ENST00000371711p.S156Fc.467C>TSubstitution - Missense
TSHZ2ENSG00000182463ENST00000371497p.S291Rc.873C>GSubstitution - Missense
MTG2ENSG00000101181ENST00000370823p.W26Lc.77G>TSubstitution - Missense
ENST00000339538p.P386Lc.1157C>TSubstitution - Missense
MCM8ENSG00000125885ENST00000378896p.L428Lc.1284C>TSubstitution - coding silent
CDH4ENSG00000179242ENST00000360469p.E96Dc.288G>TSubstitution - Missense
CDH4ENSG00000179242ENST00000360469p.A115Tc.343G>ASubstitution - Missense
VWDEENSG00000146530ENST00000275358p.E1399Dc.4197A>TSubstitution - Missense
VWDEENSG00000146530ENST00000275358p.P1343Lc.4028C>TSubstitution - Missense
LMOD2ENSG00000170807ENST00000458573p.P397Pc.1191C>ASubstitution - coding silent
PTPRZ1ENSG00000106278ENST00000393386p.A1398Tc.4192G>ASubstitution - Missense
FLNCENSG00000128591ENST00000325888p.D645Ec.1935C>ASubstitution - Missense
CALUENSG00000128595ENST00000542996p.D125Hc.373G>CSubstitution - Missense
FSCN3ENSG00000106328ENST00000265825p.T137Sc.410C>GSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.E1487Dc.4461G>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.L1868Rc.5603T>GSubstitution - Missense
CPA2ENSG00000158516ENST00000222481p.Q47Kc.139C>ASubstitution - Missense
EXOC4ENSG00000131558ENST00000253861p.?c.2688-3C>TUnknown
TAF1LENSG00000122728ENST00000242310p.H135Rc.404A>GSubstitution - Missense
SPAG8ENSG00000137098ENST00000340291p.A255Gc.764C>GSubstitution - Missense
SPAG8ENSG00000137098ENST00000396638p.A255Gc.764C>GSubstitution - Missense
UBAP1ENSG00000165006ENST00000545103p.R266Sc.798G>CSubstitution - Missense
CNTNAP3ENSG00000106714ENST00000297668p.Y1018Nc.3052T>ASubstitution - Missense
POLR1EENSG00000137054ENST00000377792p.S283Cc.848C>GSubstitution - Missense
TRPM3ENSG00000083067ENST00000377106p.T1425Tc.4275A>CSubstitution - coding silent
TRPM3ENSG00000083067ENST00000423814p.T1557Tc.4671A>CSubstitution - coding silent
C9orf135ENSG00000204711ENST00000377197p.T119Rc.356C>GSubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.R20Lc.59G>TSubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.R20Lc.59G>TSubstitution - Missense
FHITENSG00000189283ENST00000476844p.K93Nc.279G>TSubstitution - Missense
FHITENSG00000189283ENST00000341848p.K93Nc.279G>TSubstitution - Missense
FLNBENSG00000136068ENST00000295956p.Q1559Ec.4675C>GSubstitution - Missense
SPATA12ENSG00000186451ENST00000334325p.L102Pc.305T>CSubstitution - Missense
LPLENSG00000175445ENST00000311322p.L43Lc.127C>TSubstitution - coding silent
UBA3ENSG00000144744ENST00000361055p.R37Lc.110G>TSubstitution - Missense
ADAMTS9ENSG00000163638ENST00000498707p.D1907Yc.5719G>TSubstitution - Missense
ENST00000380781p.Q175Hc.525G>CSubstitution - Missense
FN1ENSG00000115414ENST00000354785p.?c.547+5G>TUnknown
PLAG1ENSG00000181690ENST00000316981p.G441Ac.1322G>CSubstitution - Missense
ANGPT2ENSG00000091879ENST00000325203p.G351Ec.1052G>ASubstitution - Missense
ANGPT2ENSG00000091879ENST00000325203p.G351Ec.1052G>ASubstitution - Missense
WDR44ENSG00000131725ENST00000254029p.N868Nc.2604C>TSubstitution - coding silent
KLHL13ENSG00000003096ENST00000262820p.S246fs*33c.735delCDeletion - Frameshift
NM_020871.2p.H684Hc.2052T>CSubstitution - coding silent
AMOTENSG00000126016ENST00000371959p.R164Rc.492A>GSubstitution - coding silent
GRIA3ENSG00000125675ENST00000371256p.A180Sc.538G>TSubstitution - Missense
ATP1B4ENSG00000101892ENST00000361319p.D274Hc.820G>CSubstitution - Missense
CUL4BENSG00000158290ENST00000371322p.R878Rc.2634G>TSubstitution - coding silent
CUL4BENSG00000158290ENST00000404115p.R896Rc.2688G>TSubstitution - coding silent
BCORL1ENSG00000085185ENST00000218147p.E898*c.2692G>TSubstitution - Nonsense
C3ENSG00000125730ENST00000245907p.?c.1846-4G>TUnknown
SLC25A41ENSG00000181240ENST00000321510p.G6Ac.17G>CSubstitution - Missense
TFDP3ENSG00000183434ENST00000310125p.R347Mc.1040G>TSubstitution - Missense
NM_016521.2p.R287Mc.860G>TSubstitution - Missense
ENST00000320400p.R335Lc.1004G>TSubstitution - Missense
ARHGEF18ENSG00000104880ENST00000359920p.?c.656-3C>GUnknown
ARHGEF18ENSG00000104880ENST00000319670p.?c.182-3C>GUnknown
ENST00000359590p.C119Yc.356G>ASubstitution - Missense
VAV1ENSG00000141968ENST00000304076p.T760Ac.2278A>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T11780Kc.35339C>ASubstitution - Missense
CERS4ENSG00000090661ENST00000251363p.R381Wc.1141C>TSubstitution - Missense
MAP2K7ENSG00000076984ENST00000397979p.S271Cc.812C>GSubstitution - Missense
PHF2ENSG00000197724ENST00000359246p.E424Vc.1271A>TSubstitution - Missense
TRMT2BENSG00000188917ENST00000545398p.V55Vc.165G>ASubstitution - coding silent
DRP2ENSG00000102385ENST00000402866p.Q695Kc.2083C>ASubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.R15Rc.45C>ASubstitution - coding silent
PTCH1ENSG00000185920ENST00000375274p.R15Rc.45C>ASubstitution - coding silent
PHF2ENSG00000197724ENST00000359246p.S730Gc.2188A>GSubstitution - Missense
PIH1D3ENSG00000080572ENST00000372453p.A60Ac.180C>ASubstitution - coding silent
SLC25A53ENSG00000176274ENST00000357421p.L142Hc.425T>ASubstitution - Missense
ESX1ENSG00000123576ENST00000372588p.Q115Kc.343C>ASubstitution - Missense
NXT2ENSG00000101888ENST00000218004p.E24Ec.72G>ASubstitution - coding silent
COL4A6ENSG00000197565ENST00000334504p.P1369Lc.4106C>TSubstitution - Missense
COL4A6ENSG00000197565ENST00000394872p.P1370Lc.4109C>TSubstitution - Missense
COL4A6ENSG00000197565ENST00000334504p.K1031*c.3091A>TSubstitution - Nonsense
COL4A6ENSG00000197565ENST00000394872p.K1032*c.3094A>TSubstitution - Nonsense
ENSG00000187607ENST00000421016p.A480Vc.1439C>TSubstitution - Missense
HS3ST3A1ENSG00000153976ENST00000284110p.R384Lc.1151G>TSubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.S469Sc.1407C>ASubstitution - coding silent
ENST00000399211_v68p.A168Ac.504T>GSubstitution - coding silent
ITGB4ENSG00000132470ENST00000200181p.I322Ic.966C>TSubstitution - coding silent
ITGB4ENSG00000132470ENST00000339591p.I322Ic.966C>TSubstitution - coding silent
FLIIENSG00000177731ENST00000327031p.?c.1099-6G>TUnknown
FBF1ENSG00000188878ENST00000319129p.E828Qc.2482G>CSubstitution - Missense
ENST00000300671p.A2357Tc.7069G>ASubstitution - Missense
SOCS3ENSG00000184557ENST00000330871p.E146Qc.436G>CSubstitution - Missense
ZNF729ENSG00000196350ENST00000357491p.P823Hc.2468C>ASubstitution - Missense
AMHENSG00000104899ENST00000221496p.H506Nc.1516C>ASubstitution - Missense
ZNF257ENSG00000197134ENST00000435820p.G511Vc.1532G>TSubstitution - Missense
POP4ENSG00000105171ENST00000221770p.D88Hc.262G>CSubstitution - Missense
ZNF77ENSG00000175691ENST00000314531p.K411Ec.1231A>GSubstitution - Missense
ZNF91ENSG00000167232ENST00000300619p.L405Lc.1215C>GSubstitution - coding silent
ZNF91ENSG00000167232ENST00000300619p.L405Lc.1215C>GSubstitution - coding silent
TSHZ3ENSG00000121297ENST00000240587p.Y239Nc.715T>ASubstitution - Missense
SLC17A7ENSG00000104888ENST00000221485p.A404Ac.1212C>TSubstitution - coding silent
SLC17A7ENSG00000104888ENST00000221485p.A165Ac.495C>TSubstitution - coding silent
ALDH16A1ENSG00000161618ENST00000293350p.L650Lc.1950G>CSubstitution - coding silent
CCDC155ENSG00000161609ENST00000447857p.D151Dc.453C>TSubstitution - coding silent
SNRNP70ENSG00000104852ENST00000221448p.R46Rc.138A>GSubstitution - coding silent
MYH14ENSG00000105357ENST00000262269p.S872Nc.2615G>ASubstitution - Missense
TSKSENSG00000126467ENST00000246801p.A143Dc.428C>ASubstitution - Missense
ENST00000331986p.G3764Wc.11290G>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S1779*c.5336C>GSubstitution - Nonsense
SNPHENSG00000101298ENST00000381867p.P332Lc.995C>TSubstitution - Missense
SNRPB2ENSG00000125870ENST00000377943p.?c.378+1G>AUnknown
ESF1ENSG00000089048ENST00000202816p.Q587*c.1759C>TSubstitution - Nonsense
ENST00000376987p.Q111Lc.332A>TSubstitution - Missense
CRNKL1ENSG00000101343ENST00000377340p.Y438*c.1314T>ASubstitution - Nonsense
CRNKL1ENSG00000101343ENST00000377340p.G57*c.169G>TSubstitution - Nonsense
PDYNENSG00000101327ENST00000217305p.F111Lc.333T>ASubstitution - Missense
RIN2ENSG00000132669ENST00000255006p.F13Fc.39C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.?c.19367-2A>TUnknown
TTNENSG00000155657ENST00000342992p.A7246Sc.21736G>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.I2940Vc.8818A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.I2940Vc.8818A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.H2936Nc.8806C>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.H2890Nc.8668C>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.H2890Nc.8668C>ASubstitution - Missense
NM_003319p.H2890Nc.8668C>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.L2935Lc.8805C>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.L2889Lc.8667C>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.N3978Kc.11934C>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.E3637*c.10909G>TSubstitution - Nonsense
ENST00000356127p.E3637*c.10909G>TSubstitution - Nonsense
TTNENSG00000155657ENST00000342175p.G1073Dc.3218G>ASubstitution - Missense
NM_003319p.G1073Dc.3218G>ASubstitution - Missense
TTNENSG00000155657ENST00000360870p.G1119Dc.3356G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.L2889Lc.8667C>ASubstitution - coding silent
NM_003319p.L2889Lc.8667C>ASubstitution - coding silent
SSFA2ENSG00000138434ENST00000431877p.S845Fc.2534C>TSubstitution - Missense
CERKLENSG00000188452ENST00000339098p.M366Vc.1096A>GSubstitution - Missense
CERKLENSG00000188452ENST00000410087p.M340Vc.1018A>GSubstitution - Missense
ZNF385BENSG00000144331ENST00000409343p.P359Pc.1077C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.I29Tc.86T>CSubstitution - Missense
ENST00000356127p.I29Tc.86T>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.I29Tc.86T>CSubstitution - Missense
ENST00000344648p.I779Tc.2336T>CSubstitution - Missense
MYT1LENSG00000186487ENST00000399161p.G1011Gc.3033A>TSubstitution - coding silent
NCKAP1ENSG00000061676ENST00000360982p.Y435Fc.1304A>TSubstitution - Missense
NCKAP1ENSG00000061676ENST00000360982p.D365Yc.1093G>TSubstitution - Missense
STAT1ENSG00000115415ENST00000361099p.D257Hc.769G>CSubstitution - Missense
ORMDL1ENSG00000128699ENST00000392349p.R99Rc.295C>ASubstitution - coding silent
SLC40A1ENSG00000138449ENST00000261024p.R411Mc.1232G>TSubstitution - Missense
ADAM23ENSG00000114948ENST00000264377p.M298fs*7c.894delGDeletion - Frameshift
ADAM23ENSG00000114948ENST00000374416p.M298fs*7c.894delGDeletion - Frameshift
NRP2ENSG00000118257ENST00000360409p.R405Kc.1214G>ASubstitution - Missense
UNC80ENSG00000144406ENST00000439458p.K658Rc.1973A>GSubstitution - Missense
UNC80ENSG00000144406ENST00000439458p.Y928Yc.2784T>CSubstitution - coding silent
CRYGBENSG00000182187ENST00000260988p.G166Gc.498C>ASubstitution - coding silent
PLEKHM3ENSG00000178385ENST00000427836p.H543Hc.1629C>TSubstitution - coding silent
CPOENSG00000144410ENST00000272852p.Y238Yc.714T>CSubstitution - coding silent
DYTNENSG00000232125ENST00000452335p.S268Yc.803C>ASubstitution - Missense
DYTNENSG00000232125ENST00000452335p.S268Yc.803C>ASubstitution - Missense
APOBENSG00000084674ENST00000233242p.T950Mc.2849C>TSubstitution - Missense
ERBB4ENSG00000178568ENST00000342788p.Y1035Hc.3103T>CSubstitution - Missense
ERBB4ENSG00000178568ENST00000402597p.Y1025Hc.3073T>CSubstitution - Missense
FN1ENSG00000115414ENST00000354785p.Q1086Lc.3257A>TSubstitution - Missense
FN1ENSG00000115414ENST00000336916p.Q1086Lc.3257A>TSubstitution - Missense
ATICENSG00000138363ENST00000236959p.A320Pc.958G>CSubstitution - Missense
APOBENSG00000084674ENST00000233242p.Q2106Kc.6316C>ASubstitution - Missense
APOBENSG00000084674ENST00000233242p.T1978Ic.5933C>TSubstitution - Missense
APOBENSG00000084674ENST00000233242p.R1897Lc.5690G>TSubstitution - Missense
RUFY4ENSG00000188282ENST00000374155p.I242Fc.724A>TSubstitution - Missense
RUFY4ENSG00000188282ENST00000344321p.I222Fc.664A>TSubstitution - Missense
TNS1ENSG00000079308ENST00000171887p.A125Ac.375G>CSubstitution - coding silent
SIX4ENSG00000100625ENST00000216513p.M751Ic.2253G>TSubstitution - Missense
SIX4ENSG00000100625ENST00000216513p.E283Dc.849G>TSubstitution - Missense
SPTBENSG00000070182ENST00000389722p.E1872Kc.5614G>ASubstitution - Missense
SPTBENSG00000070182ENST00000542895p.E1872Kc.5614G>ASubstitution - Missense
SPTBENSG00000070182ENST00000389722p.K1422Nc.4266G>TSubstitution - Missense
PLEKHG3ENSG00000126822ENST00000247226p.?c.682-4G>TUnknown
TSHRENSG00000165409ENST00000541158p.Y353*c.1059C>GSubstitution - Nonsense
UNC79ENSG00000133958ENST00000256339p.W2240Cc.6720G>TSubstitution - Missense
UNC79ENSG00000133958ENST00000256339p.K1685*c.5053A>TSubstitution - Nonsense
UNC79ENSG00000133958ENST00000553484p.K1884*c.5650A>TSubstitution - Nonsense
BTBD7ENSG00000011114ENST00000334746p.L160Fc.480G>TSubstitution - Missense
ITPK1ENSG00000100605ENST00000267615p.D86Nc.256G>ASubstitution - Missense
VPS13CENSG00000129003ENST00000395896p.E281Kc.841G>ASubstitution - Missense
DICER1ENSG00000100697ENST00000343455p.E1117*c.3349G>TSubstitution - Nonsense
PLEKHO2ENSG00000241839ENST00000323544p.V457Vc.1371C>TSubstitution - coding silent
ENST00000416172_v68p.Q254*c.760C>TSubstitution - Nonsense
HERC1ENSG00000103657ENST00000443617p.Q3114Kc.9340C>ASubstitution - Missense
CA12ENSG00000074410ENST00000178638p.S95*c.284C>GSubstitution - Nonsense
CA12ENSG00000074410ENST00000178638p.L81Lc.241C>TSubstitution - coding silent
TPM1ENSG00000140416ENST00000267996p.D157Hc.469G>CSubstitution - Missense
TPM1ENSG00000140416ENST00000334895p.D121Hc.361G>CSubstitution - Missense
VPS13CENSG00000129003ENST00000261517p.E281Kc.841G>ASubstitution - Missense
SKOR1ENSG00000188779ENST00000341418p.W431Cc.1293G>TSubstitution - Missense
SKOR1ENSG00000188779ENST00000380035p.W245Cc.735G>TSubstitution - Missense
SMAD3ENSG00000166949ENST00000439724p.S207Lc.620C>TSubstitution - Missense
LRRC8DENSG00000171492ENST00000337338p.P271Sc.811C>TSubstitution - Missense
ABCA4ENSG00000198691ENST00000370225p.V1360Vc.4080C>TSubstitution - coding silent
BRDTENSG00000137948ENST00000362005p.V381Fc.1141G>TSubstitution - Missense
DIO3ENSG00000197406ENST00000510508p.F180Fc.540C>TSubstitution - coding silent
DIO3ENSG00000197406ENST00000359323p.F154Fc.462C>TSubstitution - coding silent
ENST00000375815p.S798Ic.2393G>TSubstitution - Missense
ZMYM5ENSG00000132950ENST00000337963p.Q544Ec.1630C>GSubstitution - Missense
LAMP1ENSG00000185896ENST00000332556p.V213Gc.638T>GSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.Q2982*c.8944C>TSubstitution - Nonsense
RYR3ENSG00000198838ENST00000389232p.I4427Ic.13281C>ASubstitution - coding silent
RYR3ENSG00000198838ENST00000389232p.G1736Gc.5208C>ASubstitution - coding silent
RYR3ENSG00000198838ENST00000389232p.L2424Lc.7272C>GSubstitution - coding silent
NUSAP1ENSG00000137804ENST00000559596p.K161Rc.482A>GSubstitution - Missense
RANBP3LENSG00000164188ENST00000296604p.R140Ic.419G>TSubstitution - Missense
SLC1A3ENSG00000079215ENST00000265113p.T129Ic.386C>TSubstitution - Missense
SPEF2ENSG00000152582ENST00000303129p.P110fs*15c.326_327insAInsertion - Frameshift
C5orf42ENSG00000197603ENST00000425232p.R770Kc.2309G>ASubstitution - Missense
NUP155ENSG00000113569ENST00000231498p.E1021Qc.3061G>CSubstitution - Missense
C5orf42ENSG00000197603ENST00000425232p.A3097Vc.9290C>TSubstitution - Missense
C6ENSG00000039537ENST00000263413p.W90Cc.270G>TSubstitution - Missense
C6ENSG00000039537ENST00000263413p.V52Ac.155T>CSubstitution - Missense
C7ENSG00000112936ENST00000313164p.P375Pc.1125G>TSubstitution - coding silent
RBFOX1ENSG00000078328ENST00000550418p.R184Sc.550C>ASubstitution - Missense
KARSENSG00000065427ENST00000302445p.K24Nc.72G>CSubstitution - Missense
CHST5ENSG00000135702ENST00000336257p.P302Pc.906G>ASubstitution - coding silent
WDR59ENSG00000103091ENST00000262144p.R590Lc.1769G>TSubstitution - Missense
ADAMTS18ENSG00000140873ENST00000282849p.Q237*c.709C>TSubstitution - Nonsense
USP10ENSG00000103194ENST00000219473p.T216Sc.646A>TSubstitution - Missense
NECAB2ENSG00000103154ENST00000305202p.N75Dc.223A>GSubstitution - Missense
SLC38A8ENSG00000166558ENST00000299709p.L110Fc.328C>TSubstitution - Missense
RPUSD1ENSG00000007376ENST00000007264p.M206Ic.618G>CSubstitution - Missense
WNT9BENSG00000158955ENST00000290015p.R154Wc.460C>TSubstitution - Missense
MAPTENSG00000186868ENST00000344290p.T466Mc.1397C>TSubstitution - Missense
MAPTENSG00000186868ENST00000262410p.T466Mc.1397C>TSubstitution - Missense
HOXB8ENSG00000120068ENST00000239144p.G184fs*2c.551delGDeletion - Frameshift
SKAP1ENSG00000141293ENST00000336915p.I48Ic.144C>ASubstitution - coding silent
KPNB1ENSG00000108424ENST00000290158p.K831Rc.2492A>GSubstitution - Missense
EME1ENSG00000154920ENST00000338165p.V532Vc.1596G>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.G8131Wc.24391G>TSubstitution - Missense
FGF7ENSG00000140285ENST00000267843p.?c.287-5T>AUnknown
ATP8B4ENSG00000104043ENST00000284509p.P1154Pc.3462C>TSubstitution - coding silent
UNC13CENSG00000137766ENST00000260323p.S1836Nc.5507G>ASubstitution - Missense
WDR72ENSG00000166415ENST00000396328p.D488Yc.1462G>TSubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.A3Ac.9T>ASubstitution - coding silent
UNC13CENSG00000137766ENST00000260323p.A3Ac.9T>ASubstitution - coding silent
CCDC83ENSG00000150676ENST00000280245p.E224Qc.670G>CSubstitution - Missense
SYTL2ENSG00000137501ENST00000359152p.?c.4153+1G>TUnknown
SYTL2ENSG00000137501ENST00000316356p.?c.1618+1G>TUnknown
ENST00000257034p.N349Tc.1046A>CSubstitution - Missense
GRM5ENSG00000168959ENST00000418177p.D34Dc.102C>TSubstitution - coding silent
GRM5ENSG00000168959ENST00000305432p.D34Dc.102C>TSubstitution - coding silent
GRM5ENSG00000168959ENST00000418177p.M802Tc.2405T>CSubstitution - Missense
PICALMENSG00000073921ENST00000532317p.L314Lc.940C>TSubstitution - coding silent
ENST00000298047_v61p.S2936Rc.8808C>ASubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.P2463Hc.7388C>ASubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.D928Hc.2782G>CSubstitution - Missense
ENST00000298047_v61p.D928Hc.2782G>CSubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.?c.528+4A>TUnknown
FAT3ENSG00000165323ENST00000409404p.S4535Rc.13605C>ASubstitution - Missense
ENST00000298047_v61p.V4373Vc.13119C>ASubstitution - coding silent
TMEM132BENSG00000139364ENST00000299308p.F508Lc.1524C>GSubstitution - Missense
GPRC5AENSG00000013588ENST00000014914p.K23Ec.67A>GSubstitution - Missense
FZD10ENSG00000111432ENST00000229030p.I361Mc.1083C>GSubstitution - Missense
PRDM2ENSG00000116731ENST00000235372p.P782Lc.2345C>TSubstitution - Missense
NOTCH2NLENSG00000213240ENST00000362074p.C29Rc.85T>CSubstitution - Missense
NOTCH2NLENSG00000213240ENST00000344859p.C29Rc.85T>CSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313431p.I206Vc.616A>GSubstitution - Missense
OR2L2ENSG00000203663ENST00000366479p.F177Fc.531C>TSubstitution - coding silent
OR2W3ENSG00000238243ENST00000360358p.G205Gc.615T>CSubstitution - coding silent
TRIM58ENSG00000162722ENST00000366481p.C277*c.831C>ASubstitution - Nonsense
OR1C1ENSG00000221888ENST00000408896p.S263Tc.787T>ASubstitution - Missense
OR2T12ENSG00000177201ENST00000317996p.H268Yc.802C>TSubstitution - Missense
OR2M3ENSG00000228198ENST00000456743p.P182Lc.545C>TSubstitution - Missense
OR2T34ENSG00000183310ENST00000328782p.S260Sc.780C>TSubstitution - coding silent
RPA2ENSG00000117748ENST00000313433p.P264Pc.792C>TSubstitution - coding silent
RPS6KA1ENSG00000117676ENST00000531382p.G619Vc.1856G>TSubstitution - Missense
INADLENSG00000132849ENST00000371158p.Q1011Ec.3031C>GSubstitution - Missense
CHD5ENSG00000116254ENST00000262450p.T478Tc.1434G>TSubstitution - coding silent
C1orf87ENSG00000162598ENST00000371201p.T421Sc.1261A>TSubstitution - Missense
MYSM1ENSG00000162601ENST00000472487p.E60Qc.178G>CSubstitution - Missense
DNAJC6ENSG00000116675ENST00000395325p.A169Vc.506C>TSubstitution - Missense
DNAJC6ENSG00000116675ENST00000395325p.?c.1867+10T>AUnknown
DNAJC6ENSG00000116675ENST00000395325p.S744Sc.2232C>TSubstitution - coding silent
LEPRENSG00000116678ENST00000349533p.D45Gc.134A>GSubstitution - Missense
LEPRENSG00000116678ENST00000371060p.D45Gc.134A>GSubstitution - Missense
RAVER2ENSG00000162437ENST00000371072p.Q607Pc.1820A>CSubstitution - Missense
LRRIQ3ENSG00000162620ENST00000395089p.K248Nc.744A>TSubstitution - Missense
NM_000957.2p.Q423Lc.1268A>TSubstitution - Missense
LRRC7ENSG00000033122ENST00000370958p.?c.3-5T>AUnknown
IL23RENSG00000162594ENST00000347310p.A259Dc.776C>ASubstitution - Missense
SGIP1ENSG00000118473ENST00000237247p.S56*c.167C>ASubstitution - Nonsense
AK5ENSG00000154027ENST00000354567p.S330Sc.990T>CSubstitution - coding silent
SLC44A5ENSG00000137968ENST00000370859p.Y443Cc.1328A>GSubstitution - Missense
SLC44A5ENSG00000137968ENST00000370855p.?c.740+6T>CUnknown
C1orf173ENSG00000178965ENST00000326665p.A22Sc.64G>TSubstitution - Missense
C1orf173ENSG00000178965ENST00000326665p.A1418Ac.4254A>GSubstitution - coding silent
C1orf173ENSG00000178965ENST00000326665p.Q1007Qc.3021G>ASubstitution - coding silent
ZRANB2ENSG00000132485ENST00000370920p.E84Kc.250G>ASubstitution - Missense
SLC45A1ENSG00000162426ENST00000289877p.L195Lc.585G>TSubstitution - coding silent
EXOC5ENSG00000070367ENST00000413566p.G28*c.82G>TSubstitution - Nonsense
ESR2ENSG00000140009ENST00000341099p.Q418Hc.1254G>CSubstitution - Missense
ESR2ENSG00000140009ENST00000554572p.Q418Hc.1254G>CSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.K1375Ic.4124A>TSubstitution - Missense
SNX27ENSG00000143376ENST00000368843p.R476Rc.1428A>GSubstitution - coding silent
SELENBP1ENSG00000143416ENST00000368868p.?c.4+5G>CUnknown
POGZENSG00000143442ENST00000491586p.E891Qc.2671G>CSubstitution - Missense
ZNF687ENSG00000143373ENST00000324048p.E381Kc.1141G>ASubstitution - Missense
VPS72ENSG00000163159ENST00000368892p.E235Qc.703G>CSubstitution - Missense
DUSP27ENSG00000198842ENST00000361200p.A1113Sc.3337G>TSubstitution - Missense
FLGENSG00000143631ENST00000368799p.S2203Sc.6609T>CSubstitution - coding silent
HRNRENSG00000197915ENST00000368801p.S926*c.2777C>ASubstitution - Nonsense
HRNRENSG00000197915ENST00000368801p.S594Sc.1782C>ASubstitution - coding silent
HRNRENSG00000197915ENST00000368801p.Q519*c.1555C>TSubstitution - Nonsense
TCHHL1ENSG00000182898ENST00000368806p.S448Sc.1344C>TSubstitution - coding silent
EHD4ENSG00000103966ENST00000220325p.P521Sc.1561C>TSubstitution - Missense
SPTBN5ENSG00000137877ENST00000320955p.L1662Lc.4986C>TSubstitution - coding silent
DUSP27ENSG00000198842ENST00000361200p.V874Dc.2621T>ASubstitution - Missense
STARD9ENSG00000159433ENST00000290607p.S1519Yc.4556C>ASubstitution - Missense
PRDX1ENSG00000117450ENST00000319248p.?c.260+9C>GUnknown
SLC24A5ENSG00000188467ENST00000341459p.G5fs*39c.11_12insAInsertion - Frameshift
DUOX1ENSG00000137857ENST00000389037p.A188Sc.562G>TSubstitution - Missense
ORC1ENSG00000085840ENST00000371568p.R91Rc.273A>GSubstitution - coding silent
EPS15ENSG00000085832ENST00000371733p.E20Qc.58G>CSubstitution - Missense
DMRTA2ENSG00000142700ENST00000404795p.K215*c.643A>TSubstitution - Nonsense
HECTD1ENSG00000092148ENST00000399332p.Q275Hc.825G>TSubstitution - Missense
HECTD1ENSG00000092148ENST00000399332p.L1671Lc.5013A>GSubstitution - coding silent
RALGAPA1ENSG00000174373ENST00000389698p.E348Gc.1043A>GSubstitution - Missense
INSM2ENSG00000168348ENST00000307169p.S343Sc.1029C>TSubstitution - coding silent
FANCMENSG00000187790ENST00000267430p.R695Kc.2084G>ASubstitution - Missense
FANCMENSG00000187790ENST00000267430p.H742Yc.2224C>TSubstitution - Missense
PRPF39ENSG00000185246ENST00000355765p.S291Lc.872C>TSubstitution - Missense
TRIM9ENSG00000100505ENST00000298355p.P146Hc.437C>ASubstitution - Missense
TRIM9ENSG00000100505ENST00000360392p.P146Hc.437C>ASubstitution - Missense
TRIM9ENSG00000100505ENST00000338969p.P146Hc.437C>ASubstitution - Missense
TXNDC16ENSG00000087301ENST00000281741p.R675fs*4c.2022delGDeletion - Frameshift
OR4F6ENSG00000184140ENST00000328882p.R183Lc.548G>TSubstitution - Missense
ENST00000322367p.Q301Lc.902A>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.D2226Dc.6678C>TSubstitution - coding silent
ENST00000322367p.D1648Dc.4944C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000399634p.Q766Lc.2297A>TSubstitution - Missense
DDX11ENSG00000013573ENST00000407793p.V940Vc.2820G>ASubstitution - coding silent
LCE2DENSG00000187223ENST00000368784p.S97Sc.291T>CSubstitution - coding silent
ALG10BENSG00000175548ENST00000308742p.W192Lc.575G>TSubstitution - Missense
KAZNENSG00000189337ENST00000376030p.K378Nc.1134G>CSubstitution - Missense
CRCT1ENSG00000169509ENST00000368790p.P29Pc.87C>ASubstitution - coding silent
TDRD10ENSG00000163239ENST00000368480p.H96Dc.286C>GSubstitution - Missense
UBAP2LENSG00000143569ENST00000343815p.?c.2579-2A>TUnknown
ENST00000456955p.?c.1067-2A>TUnknown
UBAP2LENSG00000143569ENST00000361546p.?c.2579-1G>AUnknown
ENST00000456955p.?c.1067-1G>AUnknown
UBAP2LENSG00000143569ENST00000343815p.G860Vc.2579G>TSubstitution - Missense
THBS3ENSG00000169231ENST00000368378p.E164*c.490G>TSubstitution - Nonsense
TRIM46ENSG00000163462ENST00000334634p.?c.64-9C>AUnknown
IGFN1ENSG00000163395ENST00000335211p.A3199Sc.9595G>TSubstitution - Missense
CACNA1SENSG00000081248ENST00000362061p.L563Lc.1689G>TSubstitution - coding silent
C1orf106ENSG00000163362ENST00000367342p.?c.310+3G>AUnknown
OPTCENSG00000188770ENST00000367222p.L323Mc.967C>ASubstitution - Missense
ATP2B4ENSG00000058668ENST00000357681p.G318*c.952G>TSubstitution - Nonsense
ATP2B4ENSG00000058668ENST00000367218p.G318*c.952G>TSubstitution - Nonsense
ATP2B4ENSG00000058668ENST00000357681p.R587Hc.1760G>ASubstitution - Missense
ATP2B4ENSG00000058668ENST00000367218p.R587Hc.1760G>ASubstitution - Missense
CYB5R1ENSG00000159348ENST00000367249p.I221Vc.661A>GSubstitution - Missense
XM_046751.7p.K438Kc.1314G>ASubstitution - coding silent
ENST00000375089p.T21Nc.62C>ASubstitution - Missense
XM_290898p.L54Lc.162C>GSubstitution - coding silent
CNTN2ENSG00000184144ENST00000331830p.?c.973+1G>TUnknown
MYO5CENSG00000128833ENST00000261839p.N291Sc.872A>GSubstitution - Missense
DRGXENSG00000165606ENST00000434016p.D30Gc.89A>GSubstitution - Missense
ERCC6ENSG00000225830ENST00000355832p.G514Vc.1541G>TSubstitution - Missense
ERCC6ENSG00000225830ENST00000355832p.G514Cc.1540G>TSubstitution - Missense
PGBD3ENSG00000243251ENST00000374127p.D467Nc.1399G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.A746Ac.2238T>ASubstitution - coding silent
PCDH15ENSG00000150275ENST00000395438p.A746Ac.2238T>ASubstitution - coding silent
ENST00000417177p.A751Ac.2253T>ASubstitution - coding silent
PCDH15ENSG00000150275ENST00000361849p.G693Sc.2077G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.G693Sc.2077G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.V605Vc.1815G>TSubstitution - coding silent
PCDH15ENSG00000150275ENST00000361849p.P944Rc.2831C>GSubstitution - Missense
IL2RAENSG00000134460ENST00000379959p.I14Tc.41T>CSubstitution - Missense
SLC16A9ENSG00000165449ENST00000395347p.V423Vc.1269G>TSubstitution - coding silent
IL2RAENSG00000134460ENST00000379959p.R56Rc.168C>ASubstitution - coding silent
PCDH15ENSG00000150275ENST00000414778p.G491Cc.1471G>TSubstitution - Missense
MYPNENSG00000138347ENST00000358913p.H226Nc.676C>ASubstitution - Missense
CTNNA3ENSG00000183230ENST00000433211p.?c.843+10G>AUnknown
ZNF365ENSG00000138311ENST00000410046p.S144Sc.432G>TSubstitution - coding silent
ZNF365ENSG00000138311ENST00000395254p.S144Sc.432G>TSubstitution - coding silent
ZNF365ENSG00000138311ENST00000410046p.C320Sc.958T>ASubstitution - Missense
UNC5BENSG00000107731ENST00000335350p.Q823Kc.2467C>ASubstitution - Missense
NM_139155.1p.L1021Lc.3063G>TSubstitution - coding silent
PALD1ENSG00000107719ENST00000263563p.Q419*c.1255C>TSubstitution - Nonsense
COL13A1ENSG00000197467ENST00000398969p.K664Nc.1992A>CSubstitution - Missense
DDX21ENSG00000165732ENST00000354185p.G205Gc.615A>TSubstitution - coding silent
ENST00000398860p.N1916Ic.5747A>TSubstitution - Missense
ESRRAENSG00000173153ENST00000405666p.E374Qc.1120G>CSubstitution - Missense
SMPD1ENSG00000166311ENST00000299397p.G23Gc.69G>TSubstitution - coding silent
CCDC88BENSG00000168071ENST00000356786p.L1246Lc.3736C>TSubstitution - coding silent
RTN3ENSG00000133318ENST00000339997p.G29Vc.86G>TSubstitution - Missense
RARRES3ENSG00000133321ENST00000255688p.E15Dc.45G>CSubstitution - Missense
CCKBRENSG00000110148ENST00000525462p.T178Pc.532A>CSubstitution - Missense
TIGD3ENSG00000173825ENST00000309880p.I121Mc.363C>GSubstitution - Missense
ENST00000359762p.G205Cc.613G>TSubstitution - Missense
ARFIP2ENSG00000132254ENST00000396777p.E135Qc.403G>CSubstitution - Missense
TRIM3ENSG00000110171ENST00000525074p.G577Cc.1729G>TSubstitution - Missense
TRIM3ENSG00000110171ENST00000525074p.E395Kc.1183G>ASubstitution - Missense
ATG2AENSG00000110046ENST00000377264p.S1024Lc.3071C>TSubstitution - Missense
NRXN2ENSG00000110076ENST00000377551p.S762Yc.2285C>ASubstitution - Missense
RPS6KA4ENSG00000162302ENST00000334205p.L273Lc.819G>TSubstitution - coding silent
C11orf68ENSG00000175573ENST00000438576p.L263Fc.787C>TSubstitution - Missense
DRAP1ENSG00000175550ENST00000312515p.G97Rc.289G>CSubstitution - Missense
FOSL1ENSG00000175592ENST00000312562p.R109fs*2c.325delCDeletion - Frameshift
PCNXL3ENSG00000197136ENST00000355703p.E632Kc.1894G>ASubstitution - Missense
RSPO1ENSG00000169218ENST00000401068p.R175Rc.525G>TSubstitution - coding silent
CDC20ENSG00000117399ENST00000310955p.Q422Pc.1265A>CSubstitution - Missense
HIVEP3ENSG00000127124ENST00000372583p.K1357Kc.4071G>ASubstitution - coding silent
HIVEP3ENSG00000127124ENST00000372583p.E882Kc.2644G>ASubstitution - Missense
CTPS1ENSG00000171793ENST00000372621p.S231*c.692C>GSubstitution - Nonsense
RLFENSG00000117000ENST00000372771p.E1006Qc.3016G>CSubstitution - Missense
SLC6A9ENSG00000196517ENST00000360584p.E478*c.1432G>TSubstitution - Nonsense
TPCN1ENSG00000186815ENST00000550785p.S268Yc.803C>ASubstitution - Missense
HECTD3ENSG00000126107ENST00000372168p.D160Hc.478G>CSubstitution - Missense
NM_024602.4p.D266Hc.796G>CSubstitution - Missense
RNF220ENSG00000187147ENST00000361799p.T126Tc.378C>GSubstitution - coding silent
RNF220ENSG00000187147ENST00000355387p.T126Tc.378C>GSubstitution - coding silent
TBX3ENSG00000135111ENST00000257566p.N693Sc.2078A>GSubstitution - Missense
OASLENSG00000135114ENST00000257570p.L160Lc.480G>TSubstitution - coding silent
CITENSG00000122966ENST00000392521p.?c.2959-7C>GUnknown
TTF2ENSG00000116830ENST00000369466p.T913Ic.2738C>TSubstitution - Missense
AMPD1ENSG00000116748ENST00000520113p.R104Wc.310A>TSubstitution - Missense
NM_000036.1p.R71Wc.211A>TSubstitution - Missense
MFN2ENSG00000116688ENST00000235329p.D725Vc.2174A>TSubstitution - Missense
TUFT1ENSG00000143367ENST00000368849p.L347Lc.1041G>CSubstitution - coding silent
DDI1ENSG00000170967ENST00000302259p.R284Lc.851G>TSubstitution - Missense
ACAT1ENSG00000075239ENST00000265838p.?c.580-3C>TUnknown
GUCY1A2ENSG00000152402ENST00000526355p.L155Rc.464T>GSubstitution - Missense
KBTBD3ENSG00000182359ENST00000526793p.E249*c.745G>TSubstitution - Nonsense
ENST00000428306p.G438Rc.1312G>ASubstitution - Missense
ARHGAP20ENSG00000137727ENST00000260283p.L56Pc.167T>CSubstitution - Missense
EXPH5ENSG00000110723ENST00000265843p.N754Yc.2260A>TSubstitution - Missense
SIRT3ENSG00000142082ENST00000382743p.?c.282-1G>TUnknown
ANO5ENSG00000171714ENST00000324559p.V862Vc.2586G>TSubstitution - coding silent
ANO5ENSG00000171714ENST00000324559p.E863*c.2587G>TSubstitution - Nonsense
SLC6A5ENSG00000165970ENST00000525748p.A637Dc.1910C>ASubstitution - Missense
NAV2ENSG00000166833ENST00000360655p.I2479Mc.7437C>GSubstitution - Missense
CARSENSG00000110619ENST00000397111p.K104Nc.312G>CSubstitution - Missense
CARSENSG00000110619ENST00000397114p.K94Nc.282G>CSubstitution - Missense
KCNA4ENSG00000182255ENST00000328224p.P300Tc.898C>ASubstitution - Missense
FSHBENSG00000131808ENST00000254122p.G118Vc.353G>TSubstitution - Missense
DFFAENSG00000160049ENST00000377038p.G67Cc.199G>TSubstitution - Missense
DFFAENSG00000160049ENST00000377036p.G67Cc.199G>TSubstitution - Missense
NAT10ENSG00000135372ENST00000257829p.D232Nc.694G>ASubstitution - Missense
ENSG00000184566ENST00000330381p.E5*c.13G>TSubstitution - Nonsense
C1orf194ENSG00000179902ENST00000369949p.R45Rc.135G>ASubstitution - coding silent
VAV3ENSG00000134215ENST00000370056p.H245Lc.734A>TSubstitution - Missense
LRIF1ENSG00000121931ENST00000369763p.?c.1869+7A>GUnknown
KCNA10ENSG00000143105ENST00000369771p.R301Sc.903G>CSubstitution - Missense
MASP2ENSG00000009724ENST00000400897p.H483Nc.1447C>ASubstitution - Missense
ITGA10ENSG00000143127ENST00000369304p.L270Lc.810A>GSubstitution - coding silent
PRG4ENSG00000116690ENST00000445192p.F75Ic.223T>ASubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.G3450Gc.10350T>CSubstitution - coding silent
HMCN1ENSG00000143341ENST00000271588p.L1212Vc.3634C>GSubstitution - Missense
UBR4ENSG00000127481ENST00000375254p.A2505Pc.7513G>CSubstitution - Missense
BRINP3ENSG00000162670ENST00000367462p.Q718Kc.2152C>ASubstitution - Missense
BRINP3ENSG00000162670ENST00000367462p.L192Ic.574C>ASubstitution - Missense
PTGS2ENSG00000073756ENST00000367468p.K82Nc.246G>TSubstitution - Missense
SU_SMG1p.L1564Lc.4690C>TSubstitution - coding silent
ACSM5ENSG00000183549ENST00000331849p.C434Fc.1301G>TSubstitution - Missense
ITGA8ENSG00000077943ENST00000378076p.T82Ac.244A>GSubstitution - Missense
RSU1ENSG00000148484ENST00000377921p.K174Mc.521A>TSubstitution - Missense
OLAHENSG00000152463ENST00000378217p.K28*c.82A>TSubstitution - Nonsense
DNAH3ENSG00000158486ENST00000261383p.T1052Nc.3155C>ASubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.T1052Nc.3155C>ASubstitution - Missense
SPAG6ENSG00000077327ENST00000376624p.?c.1314+2T>AUnknown
CACNB2ENSG00000165995ENST00000396576p.R37Gc.109C>GSubstitution - Missense
MKXENSG00000150051ENST00000375790p.R133Rc.399A>GSubstitution - coding silent
ANKRD26ENSG00000107890ENST00000376087p.T1104Ic.3311C>TSubstitution - Missense
ANKRD26ENSG00000107890ENST00000376070p.T661Ic.1982C>TSubstitution - Missense
SLC8A3ENSG00000100678ENST00000357887p.G284Cc.850G>TSubstitution - Missense
SMOC1ENSG00000198732ENST00000361956p.?c.1047-5C>TUnknown
FLVCR2ENSG00000119686ENST00000238667p.I269Ic.807C>TSubstitution - coding silent
SU_SK473p.L356Qc.1067T>ASubstitution - Missense
C15orf32ENSG00000183643ENST00000333334p.P43Pc.129C>ASubstitution - coding silent
SV2BENSG00000185518ENST00000394232p.S548Cc.1643C>GSubstitution - Missense
NGRNENSG00000182768ENST00000379095p.F287Cc.860T>GSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.L707Pc.2120T>CSubstitution - Missense
CACNA1HENSG00000196557ENST00000358590p.L707Pc.2120T>CSubstitution - Missense
PRM3ENSG00000178257ENST00000327157p.G27Sc.79G>ASubstitution - Missense
LMF1ENSG00000103227ENST00000262301p.C145Sc.434G>CSubstitution - Missense
ENST00000426033p.N2930Sc.8789A>GSubstitution - Missense
ENST00000426033p.L1077Lc.3231G>TSubstitution - coding silent
FRMPD2ENSG00000170324ENST00000374201p.?c.700+8C>GUnknown
MAPK8ENSG00000107643ENST00000374176p.Y259Fc.776A>TSubstitution - Missense
PARNENSG00000140694ENST00000437198p.?c.840+7G>AUnknown
PARNENSG00000140694ENST00000437198p.?c.840+7G>AUnknown
TSR3ENSG00000007520ENST00000007390p.A120Gc.359C>GSubstitution - Missense
AGAP7ENSG00000204169ENST00000374095p.G481Cc.1441G>TSubstitution - Missense
POSTNENSG00000133110ENST00000379747p.V409Vc.1227G>CSubstitution - coding silent
TRPC4ENSG00000133107ENST00000379681p.?c.1689-3C>TUnknown
TRPC4ENSG00000133107ENST00000379705p.?c.1689-3C>TUnknown
CSNK1A1LENSG00000180138ENST00000379800p.L288Lc.862C>TSubstitution - coding silent
DCLK1ENSG00000133083ENST00000255448p.D631Hc.1891G>CSubstitution - Missense
DCLK1ENSG00000133083ENST00000255448p.D631Hc.1891G>CSubstitution - Missense
FREM2ENSG00000150893ENST00000280481p.G960Gc.2880G>TSubstitution - coding silent
FREM2ENSG00000150893ENST00000280481p.V1700Lc.5098G>TSubstitution - Missense
SDHBENSG00000117118ENST00000375499p.C253Sc.758G>CSubstitution - Missense
PRRC2CENSG00000117523ENST00000392078p.Q2383*c.7147C>TSubstitution - Nonsense
PTPRUENSG00000060656ENST00000460170p.Q443*c.1327C>TSubstitution - Nonsense
ENST00000415091p.C403Cc.1209C>TSubstitution - coding silent
TXLNAENSG00000084652ENST00000373609p.H329Qc.987C>GSubstitution - Missense
BAI2ENSG00000121753ENST00000373658p.S1225Ic.3674G>TSubstitution - Missense
COL16A1ENSG00000084636ENST00000373672p.S43Ic.128G>TSubstitution - Missense
HMGB4ENSG00000176256ENST00000519684p.Y60Fc.179A>TSubstitution - Missense
HMGB4ENSG00000176256ENST00000519684p.E74*c.220G>TSubstitution - Nonsense
CSMD2ENSG00000121904ENST00000241312p.E2042Ec.6126G>ASubstitution - coding silent
CSMD2ENSG00000121904ENST00000373381p.E2082Ec.6246G>ASubstitution - coding silent
ENST00000326544p.F1030Fc.3090C>TSubstitution - coding silent
CEP104ENSG00000116198ENST00000378230p.G900Wc.2698G>TSubstitution - Missense
THRAP3ENSG00000054118ENST00000354618p.R156Lc.467G>TSubstitution - Missense
NDNENSG00000182636ENST00000331837p.S84Rc.252C>ASubstitution - Missense
NM_004667.3p.T1992Sc.5975C>GSubstitution - Missense
NM_004667.3p.R4293Wc.12877C>TSubstitution - Missense
CHRNA7ENSG00000175344ENST00000306901p.W89Lc.266G>TSubstitution - Missense
PLEKHM2ENSG00000116786ENST00000375799p.W792Lc.2375G>TSubstitution - Missense
ADAMTS4ENSG00000158859ENST00000367996p.S544Yc.1631C>ASubstitution - Missense
ADAMTS4ENSG00000158859ENST00000367996p.S544Yc.1631C>ASubstitution - Missense
ST14ENSG00000149418ENST00000278742p.L676Lc.2026C>TSubstitution - coding silent
RGS4ENSG00000117152ENST00000367909p.M19Vc.55A>GSubstitution - Missense
SPENENSG00000065526ENST00000375759p.Q2974Lc.8921A>TSubstitution - Missense
BRSK2ENSG00000174672ENST00000308219p.G374Cc.1120G>TSubstitution - Missense
SU_BRSK2p.G374Vc.1121G>TSubstitution - Missense
ENST00000321016_v61p.P980Pc.2940G>ASubstitution - coding silent
IGSF9BENSG00000080854ENST00000321016p.P436Pc.1308G>ASubstitution - coding silent
USH1CENSG00000006611ENST00000318024p.K524Nc.1572G>TSubstitution - Missense
USH1CENSG00000006611ENST00000005226p.P572Rc.1715C>GSubstitution - Missense
USH1CENSG00000006611ENST00000318024p.I66Ic.198C>ASubstitution - coding silent
ABCC8ENSG00000006071ENST00000389817p.R1313Hc.3938G>ASubstitution - Missense
KRTAP5-2ENSG00000205867ENST00000412090p.T76Tc.228C>ASubstitution - coding silent
GTF2H1ENSG00000110768ENST00000453096p.G280Vc.839G>TSubstitution - Missense
TPH1ENSG00000129167ENST00000250018p.P134fs*20c.401delCDeletion - Frameshift
TOR3AENSG00000186283ENST00000367627p.K325fs*2c.964_965insGTCTTInsertion - Frameshift
PAPPA2ENSG00000116183ENST00000367662p.R284Rc.850C>ASubstitution - coding silent
CEP350ENSG00000135837ENST00000367607p.D1916Yc.5746G>TSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.D1916Yc.5746G>TSubstitution - Missense
ARHGEF10LENSG00000074964ENST00000361221p.E386*c.1156G>TSubstitution - Nonsense
ARHGEF10LENSG00000074964ENST00000375408p.E164*c.490G>TSubstitution - Nonsense
COLGALT2ENSG00000198756ENST00000361927p.Q444*c.1330C>TSubstitution - Nonsense
COLGALT2ENSG00000198756ENST00000361927p.Y291Cc.872A>GSubstitution - Missense
CACNA1EENSG00000198216ENST00000367573p.G2294Sc.6880G>ASubstitution - Missense
PTPRBENSG00000127329ENST00000334414p.E1616Kc.4846G>ASubstitution - Missense
PTPRBENSG00000127329ENST00000261266p.E1398Kc.4192G>ASubstitution - Missense
NM_002837.2p.E1398Kc.4192G>ASubstitution - Missense
PTPRBENSG00000127329ENST00000334414p.Q774*c.2320C>TSubstitution - Nonsense
PTPRBENSG00000127329ENST00000261266p.Q556*c.1666C>TSubstitution - Nonsense
ENST00000355015p.R316Rc.948G>TSubstitution - coding silent
HTR3AENSG00000166736ENST00000355556p.R478Rc.1434A>TSubstitution - coding silent
PDZD3ENSG00000172367ENST00000531114p.V380Vc.1140G>TSubstitution - coding silent
KMT2AENSG00000118058ENST00000534358p.E1634Kc.4900G>ASubstitution - Missense
NM_005933.1p.E1631Kc.4891G>ASubstitution - Missense
CD3GENSG00000160654ENST00000532917p.S145Pc.433T>CSubstitution - Missense
ARHGEF12ENSG00000196914ENST00000397843p.P1242Rc.3725C>GSubstitution - Missense
DAKENSG00000149476ENST00000394900p.?c.656-10C>GUnknown
DAKENSG00000149476ENST00000394900p.?c.775+10C>AUnknown
DCHS1ENSG00000166341ENST00000299441p.L2741Lc.8223C>GSubstitution - coding silent
HNRNPUL2ENSG00000214753ENST00000301785p.R218Qc.653G>ASubstitution - Missense
DEAF1ENSG00000177030ENST00000382409p.A146Ac.438G>CSubstitution - coding silent
OR10A4ENSG00000170782ENST00000379829p.P284Tc.850C>ASubstitution - Missense
OR10A4ENSG00000170782ENST00000379829p.P284Hc.851C>ASubstitution - Missense
OR10A5ENSG00000166363ENST00000299454p.V298Lc.892G>TSubstitution - Missense
OR10A5ENSG00000166363ENST00000299454p.T193fs*17c.578delCDeletion - Frameshift
CABP2ENSG00000167791ENST00000294288p.*221Lc.662G>TNonstop extension
NDUFV1ENSG00000167792ENST00000322776p.?c.701-4G>AUnknown
RPS6KB2ENSG00000175634ENST00000312629p.D372Hc.1114G>CSubstitution - Missense
DHCR7ENSG00000172893ENST00000355527p.R260Gc.778C>GSubstitution - Missense
LTA4HENSG00000111144ENST00000228740p.S353Sc.1059G>ASubstitution - coding silent
NTN4ENSG00000074527ENST00000343702p.D145Yc.433G>TSubstitution - Missense
WNK1ENSG00000060237ENST00000537687p.P1222Pc.3666C>ASubstitution - coding silent
NM_018979p.P962Pc.2886C>ASubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.G4401Vc.13202G>TSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.E2769Vc.8306A>TSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.C1582Sc.4744T>ASubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.A1956Ac.5868A>CSubstitution - coding silent
RYR2ENSG00000198626ENST00000366574p.E1083Vc.3248A>TSubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.P972Pc.2916G>ASubstitution - coding silent
C1orf101ENSG00000179397ENST00000366534p.R109*c.325A>TSubstitution - Nonsense
C1orf101ENSG00000179397ENST00000366533p.R109*c.325A>TSubstitution - Nonsense
CEP170ENSG00000143702ENST00000366543p.R1048Wc.3142C>TSubstitution - Missense
CEP170ENSG00000143702ENST00000366542p.R1146Wc.3436C>TSubstitution - Missense
PLD5ENSG00000180287ENST00000536534p.?c.607+1G>TUnknown
PLCH2ENSG00000149527ENST00000378486p.D498Dc.1494C>TSubstitution - coding silent
XM_371214.3p.D345Dc.1035C>TSubstitution - coding silent
MAP1LC3CENSG00000197769ENST00000357246p.V89Mc.265G>ASubstitution - Missense
DUSP5ENSG00000138166ENST00000369583p.E18Qc.52G>CSubstitution - Missense
NLRP3ENSG00000162711ENST00000391828p.E313Gc.938A>GSubstitution - Missense
NLRP3ENSG00000162711ENST00000391828p.S428Sc.1284T>CSubstitution - coding silent
SMYD3ENSG00000185420ENST00000388985p.?c.814-6G>CUnknown
TDRD1ENSG00000095627ENST00000251864p.D254Hc.760G>CSubstitution - Missense
DUSP5ENSG00000138166ENST00000369583p.E18Qc.52G>CSubstitution - Missense
ATRNL1ENSG00000107518ENST00000355044p.P1306Pc.3918A>CSubstitution - coding silent
ENST00000336585p.S28Ic.83G>TSubstitution - Missense
DNMBPENSG00000107554ENST00000324109p.D209Hc.625G>CSubstitution - Missense
DNMBPENSG00000107554ENST00000342239p.D209Hc.625G>CSubstitution - Missense
ANO4ENSG00000151572ENST00000392979p.W289Rc.865T>CSubstitution - Missense
ANO4ENSG00000151572ENST00000392979p.W289Cc.867G>TSubstitution - Missense
MYBPC1ENSG00000196091ENST00000361466p.E419Qc.1255G>CSubstitution - Missense
MYBPC1ENSG00000196091ENST00000361466p.?c.2033-4G>AUnknown
MYBPC1ENSG00000196091ENST00000360610p.?c.1958-4G>AUnknown
MYBPC1ENSG00000196091ENST00000360610p.?c.1958-3C>TUnknown
UTP20ENSG00000120800ENST00000261637p.E2722Qc.8164G>CSubstitution - Missense
SLC5A8ENSG00000256870ENST00000536262p.P472Qc.1415C>ASubstitution - Missense
LRRK2ENSG00000188906ENST00000298910p.?c.5948+4A>CUnknown
SU_LRRK2p.W82Lc.245G>TSubstitution - Missense
APPL2ENSG00000136044ENST00000258530p.T471Tc.1413C>ASubstitution - coding silent
KLRK1ENSG00000213809ENST00000240618p.L157Lc.471A>TSubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000389420p.A121Ec.362C>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.F17Fc.51C>TSubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000389420p.F17Fc.51C>TSubstitution - coding silent
PRICKLE1ENSG00000139174ENST00000345127p.K632Tc.1895A>CSubstitution - Missense
CNTN1ENSG00000018236ENST00000551295p.V589Lc.1765G>CSubstitution - Missense
NM_015899.1p.T315Rc.944C>GSubstitution - Missense
USP12ENSG00000152484ENST00000282344p.H269Nc.805C>ASubstitution - Missense
GALNT8ENSG00000130035ENST00000252318p.P177Tc.529C>ASubstitution - Missense
AKAP3ENSG00000111254ENST00000545990p.S82Fc.245C>TSubstitution - Missense
AKAP3ENSG00000111254ENST00000228850p.S82Fc.245C>TSubstitution - Missense
RXFP2ENSG00000133105ENST00000298386p.H395Nc.1183C>ASubstitution - Missense
LYSTENSG00000143669ENST00000389793p.P3025Pc.9075A>GSubstitution - coding silent
GGPS1ENSG00000152904ENST00000282841p.H37Dc.109C>GSubstitution - Missense
GGPS1ENSG00000152904ENST00000282841p.S70*c.209C>GSubstitution - Nonsense
GGPS1ENSG00000152904ENST00000282841p.S167Cc.500C>GSubstitution - Missense
LUZP1ENSG00000169641ENST00000374623p.R817Sc.2451G>CSubstitution - Missense
ENSG00000143674ENST00000366624p.P866Pc.2598G>TSubstitution - coding silent
TCEA3ENSG00000204219ENST00000450454p.E15Ec.45G>ASubstitution - coding silent
ACTN2ENSG00000077522ENST00000366578p.W296Cc.888G>CSubstitution - Missense
ACTN2ENSG00000077522ENST00000366578p.E310Dc.930G>CSubstitution - Missense
RERGLENSG00000111404ENST00000229002p.V121Fc.361G>TSubstitution - Missense
EPS8ENSG00000151491ENST00000281172p.Y774Cc.2321A>GSubstitution - Missense
GOLGA3ENSG00000090615ENST00000204726p.E349Qc.1045G>CSubstitution - Missense
ASB8ENSG00000177981ENST00000317697p.R21Hc.62G>ASubstitution - Missense
SLCO1A2ENSG00000084453ENST00000390670p.S40Sc.120C>ASubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.T1719Ac.5155A>GSubstitution - Missense
ENST00000313194p.E261Dc.783G>CSubstitution - Missense
NR4A1ENSG00000123358ENST00000243050p.P198Rc.593C>GSubstitution - Missense
KRT6CENSG00000170465ENST00000252250p.M309Kc.926T>ASubstitution - Missense
AGBL1ENSG00000166748ENST00000421325p.Q163Hc.489G>TSubstitution - Missense
AGBL1ENSG00000166748ENST00000421325p.A187Pc.559G>CSubstitution - Missense
SEC11AENSG00000140612ENST00000268220p.Q21Ec.61C>GSubstitution - Missense
ABHD2ENSG00000140526ENST00000352732p.P68Tc.202C>ASubstitution - Missense
PDE2AENSG00000186642ENST00000334456p.N842Ic.2525A>TSubstitution - Missense
PDE2AENSG00000186642ENST00000444035p.N833Ic.2498A>TSubstitution - Missense
INPPL1ENSG00000165458ENST00000298229p.G487Vc.1460G>TSubstitution - Missense
C2CD3ENSG00000168014ENST00000334126p.?c.4951+8C>GUnknown
C2CD3ENSG00000168014ENST00000313663p.F1097Lc.3291C>ASubstitution - Missense
C2CD3ENSG00000168014ENST00000334126p.F1097Lc.3291C>ASubstitution - Missense
LRRC32ENSG00000137507ENST00000260061p.I64Ic.192C>TSubstitution - coding silent
KLHL35ENSG00000149243ENST00000539798p.S564Fc.1691C>TSubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.Y303fs*3c.906delGDeletion - Frameshift
TENM4ENSG00000149256ENST00000278550p.Y303fs*3c.906delGDeletion - Frameshift
NLRP10ENSG00000182261ENST00000328600p.D519Yc.1555G>TSubstitution - Missense
LHPPENSG00000107902ENST00000368842p.C53Sc.158G>CSubstitution - Missense
TUBGCP2ENSG00000130640ENST00000252936p.E538Kc.1612G>ASubstitution - Missense
PAOXENSG00000148832ENST00000278060p.V113Lc.337G>TSubstitution - Missense
INF2ENSG00000203485ENST00000252527p.E359Kc.1075G>ASubstitution - Missense
TDRD9ENSG00000156414ENST00000339063p.D612Nc.1834G>ASubstitution - Missense
TDRD9ENSG00000156414ENST00000409874p.L949Lc.2845T>CSubstitution - coding silent
TDRD9ENSG00000156414ENST00000339063p.L664Lc.1990T>CSubstitution - coding silent
BAG5ENSG00000166170ENST00000299204p.L134Lc.402G>ASubstitution - coding silent
OR4K2ENSG00000165762ENST00000298642p.A143Pc.427G>CSubstitution - Missense
POTEGENSG00000222036ENST00000409832p.K391Nc.1173A>TSubstitution - Missense
BRF1ENSG00000185024ENST00000546474p.?c.1515+7G>TUnknown
PACS2ENSG00000179364ENST00000325438p.S77Sc.231C>TSubstitution - coding silent
CDCA4ENSG00000170779ENST00000392590p.L6Rc.17T>GSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.P905Pc.2715T>CSubstitution - coding silent
TEP1ENSG00000129566ENST00000262715p.L1997Lc.5991C>TSubstitution - coding silent
OR4N2ENSG00000176294ENST00000315947p.V195Lc.583G>TSubstitution - Missense
BCL2L2ENSG00000129473ENST00000250405p.L22Lc.66G>ASubstitution - coding silent
REC8ENSG00000100918ENST00000311457p.D134Dc.402T>CSubstitution - coding silent
LRRC16BENSG00000186648ENST00000342740p.L1022Pc.3065T>CSubstitution - Missense
ZFHX2ENSG00000136367ENST00000419474p.F142Ic.424T>ASubstitution - Missense
STRN3ENSG00000196792ENST00000357479p.T159Kc.476C>ASubstitution - Missense
NM_014574.2p.T159Kc.476C>ASubstitution - Missense
STRN3ENSG00000196792ENST00000357479p.A98Ac.294A>TSubstitution - coding silent
NM_014574.2p.A98Ac.294A>TSubstitution - coding silent
SCFD1ENSG00000092108ENST00000458591p.E391Kc.1171G>ASubstitution - Missense
PRKD1ENSG00000184304ENST00000331968p.S768Yc.2303C>ASubstitution - Missense
OR4D6ENSG00000166884ENST00000300127p.P167Pc.501C>TSubstitution - coding silent
OR4D11ENSG00000176200ENST00000313253p.T38Tc.114T>ASubstitution - coding silent
OR5B12ENSG00000172362ENST00000302572p.I313Vc.937A>GSubstitution - Missense
MS4A5ENSG00000166930ENST00000300190p.S29Lc.86C>TSubstitution - Missense
MS4A2ENSG00000149534ENST00000278888p.F168Lc.504T>ASubstitution - Missense
NM_000770.2p.D188Nc.562G>ASubstitution - Missense
CYP2C8ENSG00000138115ENST00000535898p.D86Nc.256G>ASubstitution - Missense
CNTN5ENSG00000149972ENST00000524871p.?c.2620+3C>AUnknown
CRTAC1ENSG00000095713ENST00000370597p.N55Tc.164A>CSubstitution - Missense
HOGA1ENSG00000241935ENST00000370646p.L242Mc.724C>ASubstitution - Missense
PI4K2AENSG00000155252ENST00000555577p.L79Mc.235C>ASubstitution - Missense
OR6T1ENSG00000181499ENST00000321252p.S254Ic.761G>TSubstitution - Missense
OR6X1ENSG00000221931ENST00000327930p.T82Sc.245C>GSubstitution - Missense
C11orf63ENSG00000109944ENST00000227349p.E87*c.259G>TSubstitution - Nonsense
TBCELENSG00000154114ENST00000529397p.D45Yc.133G>TSubstitution - Missense
TECTAENSG00000109927ENST00000392793p.G1087Vc.3260G>TSubstitution - Missense
TBRG1ENSG00000154144ENST00000441174p.I115Vc.343A>GSubstitution - Missense
TBRG1ENSG00000154144ENST00000284290p.L9Lc.27A>GSubstitution - coding silent
PANX3ENSG00000154143ENST00000284288p.L48Mc.142T>ASubstitution - Missense
OR8D2ENSG00000197263ENST00000357438p.L208Ic.622T>ASubstitution - Missense
OR10G8ENSG00000234560ENST00000431524p.G137Ac.410G>CSubstitution - Missense
DCPSENSG00000110063ENST00000263579p.G77_E78insDGc.230_231insGGATGGInsertion - In frame
FEZ1ENSG00000149557ENST00000278919p.D258fs*9c.772delGDeletion - Frameshift
RAG2ENSG00000175097ENST00000311485p.F343Cc.1028T>GSubstitution - Missense
ARHGAP32ENSG00000134909ENST00000310343p.D1290Nc.3868G>ASubstitution - Missense
OR52B4ENSG00000221996ENST00000408920p.L138Pc.413T>CSubstitution - Missense
LRRC4CENSG00000148948ENST00000278198p.R402Lc.1205G>TSubstitution - Missense
LRRC4CENSG00000148948ENST00000278198p.T78Kc.233C>ASubstitution - Missense
NR1H3ENSG00000025434ENST00000441012p.M240fs*29c.715delCDeletion - Frameshift
MADDENSG00000110514ENST00000311027p.I1143Mc.3429C>GSubstitution - Missense
F2ENSG00000180210ENST00000311907p.G6Gc.18C>GSubstitution - coding silent
AMBRA1ENSG00000110497ENST00000458649p.A1200Sc.3598G>TSubstitution - Missense
OR51F2ENSG00000176925ENST00000322110p.I233Ic.699C>ASubstitution - coding silent
OR52R1ENSG00000176937ENST00000356069p.S245Yc.734C>ASubstitution - Missense
NDUFS3ENSG00000213619ENST00000263774p.V157Vc.471C>GSubstitution - coding silent
TTC24ENSG00000187862ENST00000368237p.R513Kc.1538G>ASubstitution - Missense
LRRC71ENSG00000160838ENST00000337428p.L538Pc.1613T>CSubstitution - Missense
INSRRENSG00000027644ENST00000368195p.I335Ic.1005C>TSubstitution - coding silent
ENST00000368148p.I2260Ic.6780C>ASubstitution - coding silent
KIRRELENSG00000183853ENST00000359209p.*758Yc.2274G>TNonstop extension
KIRRELENSG00000183853ENST00000392272p.*594Yc.1782G>TNonstop extension
KIRRELENSG00000183853ENST00000368173p.*774Yc.2322G>TNonstop extension
PYHIN1ENSG00000163564ENST00000368140p.T74Ac.220A>GSubstitution - Missense
PYHIN1ENSG00000163564ENST00000368135p.T74Ac.220A>GSubstitution - Missense
ENST00000368148p.?c.6121-5T>AUnknown
SHMT2ENSG00000182199ENST00000393827p.?c.279-3C>AUnknown
HSD17B6ENSG00000025423ENST00000322165p.R191Rc.573G>ASubstitution - coding silent
ENST00000328408p.G152Cc.454G>TSubstitution - Missense
KIF5AENSG00000155980ENST00000455537p.G293Gc.879G>TSubstitution - coding silent
GLI1ENSG00000111087ENST00000228682p.P38Pc.114G>TSubstitution - coding silent
GNSENSG00000135677ENST00000258145p.Y344Fc.1031A>TSubstitution - Missense
GNSENSG00000135677ENST00000258145p.L343Lc.1029G>TSubstitution - coding silent
SCNN1AENSG00000111319ENST00000228916p.L666Lc.1998G>TSubstitution - coding silent
CLEC4CENSG00000198178ENST00000360345p.C83Yc.248G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.A2943Ac.8829G>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.D3238Yc.9712G>TSubstitution - Missense
SU_OBSCN.1p.D3108Yc.9322G>TSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.D3054Yc.9160G>TSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.D3337Yc.10009G>TSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.A2813Vc.8438C>TSubstitution - Missense
CCSAPENSG00000154429ENST00000366686p.?c.25+9T>GUnknown
OBSCNENSG00000154358ENST00000570156p.I6757Mc.20271C>GSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.I6045Mc.18135C>GSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.E5476Kc.16426G>ASubstitution - Missense
EGLN1ENSG00000135766ENST00000366641p.?c.891+6T>GUnknown
TRIM67ENSG00000119283ENST00000366653p.G594Rc.1780G>ASubstitution - Missense
HNRNPRENSG00000125944ENST00000302271p.F83Lc.249C>GSubstitution - Missense
HNRNPRENSG00000125944ENST00000374612p.F83Lc.249C>GSubstitution - Missense
LGALS8ENSG00000116977ENST00000527974p.R241*c.721C>TSubstitution - Nonsense
KRT8ENSG00000170421ENST00000293308p.A319Gc.956C>GSubstitution - Missense
KRT76ENSG00000185069ENST00000332411p.?c.1484+6G>TUnknown
ANKRD52ENSG00000139645ENST00000267116p.R504Ic.1511G>TSubstitution - Missense
CSPG4ENSG00000173546ENST00000308508p.T794Nc.2381C>ASubstitution - Missense
SEMA7AENSG00000138623ENST00000261918p.E102Kc.304G>ASubstitution - Missense
CYP11A1ENSG00000140459ENST00000268053p.S53Tc.157T>ASubstitution - Missense
C15orf27ENSG00000169758ENST00000388942p.W198Cc.594G>TSubstitution - Missense
SCAPERENSG00000140386ENST00000538941p.L896Lc.2688C>TSubstitution - coding silent
SCAPERENSG00000140386ENST00000324767p.L1142Lc.3426C>TSubstitution - coding silent
KCTD4ENSG00000180332ENST00000379108p.L143Sc.428T>CSubstitution - Missense
FAM194BENSG00000165837ENST00000298738p.E52Dc.156G>TSubstitution - Missense
ENOX1ENSG00000120658ENST00000261488p.A257Pc.769G>CSubstitution - Missense
NEK5ENSG00000197168ENST00000355568p.L326Lc.978G>ASubstitution - coding silent
TCTN1ENSG00000204852ENST00000551590p.S149Cc.446C>GSubstitution - Missense
LMO7ENSG00000136153ENST00000341547p.S585Fc.1754C>TSubstitution - Missense
LMO7ENSG00000136153ENST00000357063p.S919Fc.2756C>TSubstitution - Missense
TRAFD1ENSG00000135148ENST00000412615p.E140fs*6c.418_419insGInsertion - Frameshift
MYCBP2ENSG00000005810ENST00000407578p.Q987Ec.2959C>GSubstitution - Missense
MYCBP2ENSG00000005810ENST00000357337p.E3101Ec.9303G>ASubstitution - coding silent
NM_015057.1p.E3101Ec.9303G>ASubstitution - coding silent
COL11A1ENSG00000060718ENST00000358392p.G1276Gc.3828G>ASubstitution - coding silent
S1PR1ENSG00000170989ENST00000305352p.L290Hc.869T>ASubstitution - Missense
AGLENSG00000162688ENST00000370163p.A410Ac.1230T>CSubstitution - coding silent
ZEB1ENSG00000148516ENST00000320985p.S285*c.854C>ASubstitution - Nonsense
ZEB1ENSG00000148516ENST00000320985p.E495*c.1483G>TSubstitution - Nonsense
KIAA1462ENSG00000165757ENST00000375377p.S456Cc.1366A>TSubstitution - Missense
SVILENSG00000197321ENST00000355867p.K561Rc.1682A>GSubstitution - Missense
COL11A1ENSG00000060718ENST00000370096p.E554Ec.1662G>ASubstitution - coding silent
COL11A1ENSG00000060718ENST00000370096p.P148Qc.443C>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000370096p.P148Tc.442C>ASubstitution - Missense
COL11A1ENSG00000060718ENST00000370096p.G1093Rc.3277G>CSubstitution - Missense
NAMPTLENSG00000229644ENST00000440465p.N377Nc.1131T>CSubstitution - coding silent
FAM21CENSG00000172661ENST00000374362p.?c.732+1G>TUnknown
ALOX5ENSG00000012779ENST00000374391p.E264Qc.790G>CSubstitution - Missense
ZNF485ENSG00000198298ENST00000361807p.G406Vc.1217G>TSubstitution - Missense
CXCL12ENSG00000107562ENST00000395794p.P53Ac.157C>GSubstitution - Missense
CXCL12ENSG00000107562ENST00000374426p.P53Ac.157C>GSubstitution - Missense
CXCL12ENSG00000107562ENST00000374429p.P53Ac.157C>GSubstitution - Missense
ENST00000426433p.T232Tc.696T>ASubstitution - coding silent
ZNF37AENSG00000075407ENST00000361085p.G63Cc.187G>TSubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.?c.704-3C>TUnknown
USP48ENSG00000090686ENST00000308271p.Q105*c.313C>TSubstitution - Nonsense
NBPF3ENSG00000142794ENST00000318249p.V230Fc.688G>TSubstitution - Missense
DNAH14ENSG00000185842ENST00000445597p.Q321Hc.963G>TSubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.?c.1488+8G>AUnknown
DNAH14ENSG00000185842ENST00000445597p.?c.1545+8G>AUnknown
CAPN2ENSG00000162909ENST00000295006p.Y215Cc.644A>GSubstitution - Missense
TP53BP2ENSG00000143514ENST00000343537p.T745Ac.2233A>GSubstitution - Missense
TLR5ENSG00000187554ENST00000366881p.*859Yc.2577A>TNonstop extension
MIA3ENSG00000154305ENST00000344922p.R1815Rc.5445A>GSubstitution - coding silent
FAM177BENSG00000197520ENST00000360827p.D32Dc.96C>TSubstitution - coding silent
ZNF678ENSG00000181450ENST00000343776p.Q360Ec.1078C>GSubstitution - Missense
ZNF678ENSG00000181450ENST00000397097p.Q415Ec.1243C>GSubstitution - Missense
CDC42BPAENSG00000143776ENST00000366769p.M737Ic.2211G>CSubstitution - Missense
CDC42BPAENSG00000143776ENST00000334218p.M737Ic.2211G>CSubstitution - Missense
LEFTY1ENSG00000243709ENST00000272134p.A358Ac.1074G>CSubstitution - coding silent
ITIH2ENSG00000151655ENST00000358415p.D563Ec.1689C>ASubstitution - Missense
LDB3ENSG00000122367ENST00000361373p.R165Rc.493C>ASubstitution - coding silent
HTR7ENSG00000148680ENST00000336152p.?c.1295+3A>GUnknown
HTR7ENSG00000148680ENST00000371721p.?c.1295+3A>GUnknown
HTR7ENSG00000148680ENST00000336152p.?c.539+5G>TUnknown
LIPJENSG00000204022ENST00000371939p.S325Fc.974C>TSubstitution - Missense
ENST00000224764p.?c.430+9G>TUnknown
ANKRD1ENSG00000148677ENST00000371697p.S194Sc.582C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000413465p.Y220Cc.659A>GSubstitution - Missense
DDX41ENSG00000183258ENST00000507955p.E122Kc.364G>ASubstitution - Missense
AKAP6ENSG00000151320ENST00000280979p.E1702*c.5104G>TSubstitution - Nonsense
DCLRE1BENSG00000118655ENST00000369563p.R122*c.364C>TSubstitution - Nonsense
PCDHB16ENSG00000196963ENST00000361016p.P651Lc.1952C>TSubstitution - Missense
ARFIP2ENSG00000132254ENST00000396777p.E127Qc.379G>CSubstitution - Missense
TRHRENSG00000174417ENST00000518632p.S355Rc.1065C>ASubstitution - Missense
C19orf55ENSG00000167595ENST00000396908p.W308Cc.924G>TSubstitution - Missense
MAGEB10ENSG00000177689ENST00000356790p.P277Tc.829C>ASubstitution - Missense
SCAF4ENSG00000156304ENST00000286835p.W511Cc.1533G>TSubstitution - Missense
PHKBENSG00000102893ENST00000323584p.R622Lc.1865G>TSubstitution - Missense
CAPN12ENSG00000182472ENST00000328867p.F632Lc.1896C>GSubstitution - Missense
PMLENSG00000140464ENST00000268059p.E363Kc.1087G>ASubstitution - Missense
PMLENSG00000140464ENST00000435786p.E363Kc.1087G>ASubstitution - Missense
KCTD3ENSG00000136636ENST00000259154p.S46Ic.137G>TSubstitution - Missense
RPGRIP1LENSG00000103494ENST00000379925p.R94Lc.281G>TSubstitution - Missense
TUBD1ENSG00000108423ENST00000325752p.F440Fc.1320C>TSubstitution - coding silent
KCNH6ENSG00000173826ENST00000583023p.?c.676-7C>AUnknown
ARHGEF40ENSG00000165801ENST00000298694p.L1222Lc.3666G>ASubstitution - coding silent
OR5AS1ENSG00000181785ENST00000313555p.L115Qc.344T>ASubstitution - Missense
NAALADL1ENSG00000168060ENST00000358658p.R246Qc.737G>ASubstitution - Missense
MAGEB10ENSG00000177689ENST00000356790p.D136Yc.406G>TSubstitution - Missense
SEPT6ENSG00000125354ENST00000343984p.P77Pc.231G>TSubstitution - coding silent
ZNF804BENSG00000182348ENST00000333190p.A269Sc.805G>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.L22415Lc.67245G>ASubstitution - coding silent
SIGLEC8ENSG00000105366ENST00000321424p.G440Vc.1319G>TSubstitution - Missense
SU_OBSCN.1p.E1423Kc.4267G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.E1423Kc.4267G>ASubstitution - Missense
ITGB4ENSG00000132470ENST00000200181p.A70Vc.209C>TSubstitution - Missense
SIENSG00000090402ENST00000264382p.A1676Dc.5027C>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.L28720Lc.86160G>ASubstitution - coding silent
ARHGEF12ENSG00000196914ENST00000397843p.S745Nc.2234G>ASubstitution - Missense
TCEB3CENSG00000183791ENST00000330682p.L367Lc.1099C>TSubstitution - coding silent
ZC3H3ENSG00000014164ENST00000262577p.R56Cc.166C>TSubstitution - Missense
SCGB2B2ENSG00000205209ENST00000379204p.S71Sc.213C>TSubstitution - coding silent
KIAA1549LENSG00000110427ENST00000321505p.E900Kc.2698G>ASubstitution - Missense
KCNU1ENSG00000215262ENST00000399881p.P803Tc.2407C>ASubstitution - Missense
KANSL1ENSG00000120071ENST00000262419p.G48*c.142G>TSubstitution - Nonsense
TRMT10AENSG00000145331ENST00000394876p.R61Hc.182G>ASubstitution - Missense
OTUD7AENSG00000169918ENST00000307050p.Q630Lc.1889A>TSubstitution - Missense
BMS1ENSG00000165733ENST00000374518p.?c.2769+1G>TUnknown
TMEM132DENSG00000151952ENST00000422113p.R180Rc.538C>ASubstitution - coding silent
MAGEB10ENSG00000177689ENST00000356790p.P277Tc.829C>ASubstitution - Missense
SLC44A5ENSG00000137968ENST00000370859p.V626Fc.1876G>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.Y220Cc.659A>GSubstitution - Missense
KRT83ENSG00000170523ENST00000293670p.C222*c.666C>ASubstitution - Nonsense
LTBP1ENSG00000049323ENST00000407925p.L599Ic.1795C>ASubstitution - Missense
MAGEB10ENSG00000177689ENST00000356790p.D136Yc.406G>TSubstitution - Missense
DYRK3ENSG00000143479ENST00000367106p.V289Fc.865G>TSubstitution - Missense
NM_003582p.V274Fc.820G>TSubstitution - Missense
DYRK3ENSG00000143479ENST00000367109p.V309Fc.925G>TSubstitution - Missense
DYSFENSG00000135636ENST00000410020p.?c.952-1G>AUnknown
HHATENSG00000054392ENST00000367010p.G355Cc.1063G>TSubstitution - Missense
DIEXFENSG00000117597ENST00000491415p.D423Yc.1267G>TSubstitution - Missense
CD34ENSG00000174059ENST00000310833p.A293Tc.877G>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.P2637Qc.7910C>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.P2624Pc.7872G>TSubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.R4729Rc.14185A>CSubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.S3996Sc.11988C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.V3686Ec.11057T>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.H3643Nc.10927C>ASubstitution - Missense
CENPFENSG00000117724ENST00000366955p.I827Sc.2480T>GSubstitution - Missense
CENPFENSG00000117724ENST00000366955p.?c.574-4A>GUnknown
KRT4ENSG00000170477ENST00000293774p.G152Ac.455G>CSubstitution - Missense


COSMIC

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