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NCI-H1417 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

811 mutations reported
287 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
CTHRC1ENSG00000164932ENST00000330295p.Y51Fc.152A>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.W1088Rc.3262T>CSubstitution - Missense
POU2F2ENSG00000028277ENST00000389341p.P424Pc.1272G>ASubstitution - coding silent
RIMBP2ENSG00000060709ENST00000536002p.S47Sc.141G>ASubstitution - coding silent
CEP85LENSG00000111860ENST00000419517p.Y414Yc.1242T>CSubstitution - coding silent
CKMENSG00000104879ENST00000221476p.R316Hc.947G>ASubstitution - Missense
NM_015057.1p.V1336Vc.4008T>GSubstitution - coding silent
OAS3ENSG00000111331ENST00000228928p.G332Gc.996G>CSubstitution - coding silent
CERS5ENSG00000139624ENST00000317551p.L312Lc.936C>ASubstitution - coding silent
SLC22A6ENSG00000197901ENST00000377871p.?c.1604+10G>AUnknown
ABCC8ENSG00000006071ENST00000389817p.R194*c.580A>TSubstitution - Nonsense
SZT2ENSG00000198198ENST00000562955p.R2544Cc.7630C>TSubstitution - Missense
SFMBT2ENSG00000198879ENST00000361972p.?c.1203+1G>AUnknown
MYH11ENSG00000133392ENST00000396324p.M1661Tc.4982T>CSubstitution - Missense
APIPENSG00000149089ENST00000278359p.?c.109-4T>GUnknown
RIMBP2ENSG00000060709ENST00000261655p.S139Sc.417G>ASubstitution - coding silent
HHIPL1ENSG00000182218ENST00000330710p.R105Cc.313C>TSubstitution - Missense
COL4A6ENSG00000197565ENST00000394872p.G631Gc.1893G>TSubstitution - coding silent
ENST00000300671p.S2500Sc.7500G>ASubstitution - coding silent
POTECENSG00000183206ENST00000358970p.S22Rc.66C>ASubstitution - Missense
POM121ENSG00000196313ENST00000395270p.R209Kc.626G>ASubstitution - Missense
IFT122ENSG00000163913ENST00000296266p.E468Kc.1402G>ASubstitution - Missense
ITPR1ENSG00000150995ENST00000302640p.?c.1841+8G>AUnknown
ITPR1ENSG00000150995ENST00000357086p.?c.1886+8G>AUnknown
HAP1ENSG00000173805ENST00000347901p.A389Ac.1167C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.N4292Nc.12876T>CSubstitution - coding silent
OR5L2ENSG00000205030ENST00000378397p.F238Ic.712T>ASubstitution - Missense
SLITRK2ENSG00000185985ENST00000447897p.G104Vc.311G>TSubstitution - Missense
BEX1ENSG00000133169ENST00000372728p.P58Pc.174C>ASubstitution - coding silent
NAMPTLENSG00000229644ENST00000440465p.V76Fc.226G>TSubstitution - Missense
SLC25A34ENSG00000162461ENST00000294454p.G76Vc.227G>TSubstitution - Missense
NM_000036.1p.R447Cc.1339C>TSubstitution - Missense
COL4A6ENSG00000197565ENST00000334504p.G630Vc.1889G>TSubstitution - Missense
SSX4ENSG00000204645ENST00000376886p.K34Mc.101A>TSubstitution - Missense
HUWE1ENSG00000086758ENST00000342160p.?c.11477-2A>TUnknown
CCDC104ENSG00000163001ENST00000339012p.R297Qc.890G>ASubstitution - Missense
ZHX1ENSG00000165156ENST00000395571p.K194Rc.581A>GSubstitution - Missense
CEP57L1ENSG00000183137ENST00000359793p.I82Vc.244A>GSubstitution - Missense
ATP10BENSG00000118322ENST00000327245p.Q934Hc.2802G>TSubstitution - Missense
PALLDENSG00000129116ENST00000508898p.S97*c.290C>GSubstitution - Nonsense
ENST00000368677p.T47Tc.141G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.R175fs*72c.524delGDeletion - Frameshift
MYT1LENSG00000186487ENST00000428368p.G1009Gc.3027A>TSubstitution - coding silent
PTCD1ENSG00000106246ENST00000555673p.F52Fc.156C>TSubstitution - coding silent
GPR64ENSG00000173698ENST00000357991p.S70Ic.209G>TSubstitution - Missense
DAAM2ENSG00000146122ENST00000538976p.S588Gc.1762A>GSubstitution - Missense
TROENSG00000067445ENST00000173898p.L1273Mc.3817C>ASubstitution - Missense
ZNF462ENSG00000148143ENST00000277225p.G137Ec.410G>ASubstitution - Missense
SNAP91ENSG00000065609ENST00000369694p.S121Sc.363T>CSubstitution - coding silent
ARHGAP33ENSG00000004777ENST00000314737p.G646Gc.1938G>TSubstitution - coding silent
RSPO2ENSG00000147655ENST00000276659p.S233Rc.699C>GSubstitution - Missense
MTMR1ENSG00000063601ENST00000370390p.P575Pc.1725C>GSubstitution - coding silent
ENST00000292077p.P440Pc.1320G>ASubstitution - coding silent
OR52J3ENSG00000205495ENST00000380370p.R124Hc.371G>ASubstitution - Missense
CEP63ENSG00000182923ENST00000354446p.R150Hc.449G>ASubstitution - Missense
CEP89ENSG00000121289ENST00000590597p.G141Gc.423G>ASubstitution - coding silent
ENST00000368677p.I195Tc.584T>CSubstitution - Missense
DCCENSG00000187323ENST00000412726p.P271Tc.811C>ASubstitution - Missense
FGF13ENSG00000129682ENST00000455663p.?c.451-2A>CUnknown
HNRNPKENSG00000165119ENST00000376264p.V202Fc.604G>TSubstitution - Missense
RFX4ENSG00000111783ENST00000392842p.R494Qc.1481G>ASubstitution - Missense
IKBIPENSG00000166130ENST00000342502p.R267Gc.799A>GSubstitution - Missense
PDZRN4ENSG00000165966ENST00000402685p.Q462Ec.1384C>GSubstitution - Missense
AKAP6ENSG00000151320ENST00000280979p.D1728Yc.5182G>TSubstitution - Missense
DHDDSENSG00000117682ENST00000360009p.?c.180+6T>GUnknown
ENST00000429478p.G1102Ec.3305G>ASubstitution - Missense
NLRC5ENSG00000140853ENST00000262510p.R1691Kc.5072G>ASubstitution - Missense
CLDN17ENSG00000156282ENST00000286808p.W139Cc.417G>TSubstitution - Missense
SERPINB13ENSG00000197641ENST00000344731p.S170Nc.509G>ASubstitution - Missense
KIR2DL4ENSG00000189013ENST00000359085p.L184Lc.552G>ASubstitution - coding silent
KCND1ENSG00000102057ENST00000218176p.I241Kc.722T>ASubstitution - Missense
CDKL5ENSG00000008086ENST00000379996p.A157Sc.469G>TSubstitution - Missense
COL4A3ENSG00000169031ENST00000396578p.P1076Lc.3227C>TSubstitution - Missense
SETD1AENSG00000099381ENST00000262519p.E979*c.2935G>TSubstitution - Nonsense
MAP3K19ENSG00000176601ENST00000375845p.V1257Vc.3771G>TSubstitution - coding silent
EPHB1ENSG00000154928ENST00000398015p.V807Fc.2419G>TSubstitution - Missense
EPHB1ENSG00000154928ENST00000398015p.V807Fc.2419G>TSubstitution - Missense
XM_371474.2p.C1292Fc.3875G>TSubstitution - Missense
MAGEE2ENSG00000186675ENST00000373359p.K268Tc.803A>CSubstitution - Missense
COL14A1ENSG00000187955ENST00000297848p.S49*c.146C>ASubstitution - Nonsense
IQGAP2ENSG00000145703ENST00000274364p.D248Yc.742G>TSubstitution - Missense
OR4D1ENSG00000141194ENST00000268912p.T276Ac.826A>GSubstitution - Missense
NDFIP1ENSG00000131507ENST00000253814p.R101Lc.302G>TSubstitution - Missense
WDR90ENSG00000161996ENST00000293879p.G477Rc.1429G>ASubstitution - Missense
SPECC1LENSG00000100014ENST00000314328p.E836Qc.2506G>CSubstitution - Missense
TMEM71ENSG00000165071ENST00000377901p.D38Hc.112G>CSubstitution - Missense
C16orf45ENSG00000166780ENST00000452191p.E76Ec.228G>ASubstitution - coding silent
SHMT2ENSG00000182199ENST00000393827p.R209Wc.625C>TSubstitution - Missense
DIDO1ENSG00000101191ENST00000395335p.?c.3077_3101+17del42Unknown
BEX1ENSG00000133169ENST00000372728p.P58Pc.174C>ASubstitution - coding silent
COL11A1ENSG00000060718ENST00000358392p.S193Nc.578G>ASubstitution - Missense
SMG5ENSG00000198952ENST00000361813p.R778Hc.2333G>ASubstitution - Missense
KRT6CENSG00000170465ENST00000252250p.Y360Yc.1080C>TSubstitution - coding silent
ORC1ENSG00000085840ENST00000371568p.H628Yc.1882C>TSubstitution - Missense
TM2D1ENSG00000162604ENST00000371180p.K18Kc.54G>ASubstitution - coding silent
GP1BAENSG00000185245ENST00000329125p.V25Vc.75G>CSubstitution - coding silent
ACTRT1ENSG00000123165ENST00000371124p.G40Ec.119G>ASubstitution - Missense
AF381545.1p.T771Mc.2312C>TSubstitution - Missense
GABRG1ENSG00000163285ENST00000295452p.T303Kc.908C>ASubstitution - Missense
ATP8B1ENSG00000081923ENST00000283684p.R841Kc.2522G>ASubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.T1986Mc.5957C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.P11034Ac.33100C>GSubstitution - Missense
XM_497119.1p.?c.11147-2A>TUnknown
EIF3BENSG00000106263ENST00000397011p.P618Sc.1852C>TSubstitution - Missense
MAGEB2ENSG00000099399ENST00000378988p.A18Dc.53C>ASubstitution - Missense
ENST00000328380p.P1076Lc.3227C>TSubstitution - Missense
MROH2AENSG00000185038ENST00000389758p.?c.571+9T>AUnknown
GABRA3ENSG00000011677ENST00000370314p.K457Nc.1371A>TSubstitution - Missense
MYCBP2ENSG00000005810ENST00000357337p.V1336Vc.4008T>GSubstitution - coding silent
SHMT2ENSG00000182199ENST00000328923p.R305Wc.913C>TSubstitution - Missense
ADAM12ENSG00000148848ENST00000368679p.H665Rc.1994A>GSubstitution - Missense
RACGAP1ENSG00000161800ENST00000427314p.S123Sc.369A>GSubstitution - coding silent
JAM3ENSG00000166086ENST00000299106p.H215Qc.645C>ASubstitution - Missense
NBPF10ENSG00000163386ENST00000342960p.G49Sc.145G>ASubstitution - Missense
TP53ENSG00000141510ENST00000455263p.R175fs*72c.524delGDeletion - Frameshift
KRTAP10-7ENSG00000205441ENST00000380102p.A342Ac.1026C>ASubstitution - coding silent
RNF213ENSG00000173821ENST00000456466p.P602Pc.1806G>ASubstitution - coding silent
ANKRD29ENSG00000154065ENST00000322980p.V94Vc.282C>ASubstitution - coding silent
HIST1H2ACENSG00000180573ENST00000377791p.L59Lc.177G>CSubstitution - coding silent
KIR2DL4ENSG00000189013ENST00000345540p.L184Lc.552G>ASubstitution - coding silent
GPR113ENSG00000173567ENST00000333478p.E341Kc.1021G>ASubstitution - Missense
ITFG3ENSG00000167930ENST00000301678p.V484Vc.1452C>TSubstitution - coding silent
C19orf70ENSG00000174917ENST00000309324p.V22Fc.64G>TSubstitution - Missense
EVA1AENSG00000115363ENST00000393913p.G45Ec.134G>ASubstitution - Missense
SETD1AENSG00000099381ENST00000262519p.D525Yc.1573G>TSubstitution - Missense
IFT122ENSG00000163913ENST00000296266p.R210Wc.628C>TSubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.L2026Lc.6076T>CSubstitution - coding silent
CDCP1ENSG00000163814ENST00000296129p.G532Dc.1595G>ASubstitution - Missense
DCSTAMPENSG00000164935ENST00000297581p.R319Pc.956G>CSubstitution - Missense
AMPHENSG00000078053ENST00000356264p.L685Vc.2053C>GSubstitution - Missense
ATP13A3ENSG00000133657ENST00000256031p.W81Rc.241T>CSubstitution - Missense
NLGN4XENSG00000146938ENST00000381093p.A308Sc.922G>TSubstitution - Missense
PSMD13ENSG00000185627ENST00000431206p.G128Rc.382G>ASubstitution - Missense
TBC1D21ENSG00000167139ENST00000300504p.L287Lc.861G>TSubstitution - coding silent
TDRD9ENSG00000156414ENST00000409874p.E1124Qc.3370G>CSubstitution - Missense
USH1CENSG00000006611ENST00000005226p.Y27Cc.80A>GSubstitution - Missense
LTBP2ENSG00000119681ENST00000261978p.P1227Pc.3681G>ASubstitution - coding silent
MYO3AENSG00000095777ENST00000543632p.S575Sc.1725C>GSubstitution - coding silent
KTN1ENSG00000126777ENST00000416613p.R505Wc.1513A>TSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.?c.1269-10T>CUnknown
DCAF12L1ENSG00000198889ENST00000371126p.R67Mc.200G>TSubstitution - Missense
ELF4ENSG00000102034ENST00000335997p.?c.247+8C>AUnknown
SPATA31A6ENSG00000185775ENST00000332857p.P455Qc.1364C>ASubstitution - Missense
ACEENSG00000159640ENST00000290866p.P504Sc.1510C>TSubstitution - Missense
TYK2ENSG00000105397ENST00000525621p.R124Rc.372T>CSubstitution - coding silent
ENST00000262563p.S727Tc.2179T>ASubstitution - Missense
EPHB6ENSG00000106123ENST00000392957p.P281Tc.841C>ASubstitution - Missense
MYT1ENSG00000196132ENST00000328439p.V137Fc.409G>TSubstitution - Missense
TMEM47ENSG00000147027ENST00000275954p.S129Rc.387C>GSubstitution - Missense
MAOAENSG00000189221ENST00000338702p.E399*c.1195G>TSubstitution - Nonsense
NM_005496.2p.R187Gc.559A>GSubstitution - Missense
FBXO41ENSG00000163013ENST00000521871p.T314Tc.942G>ASubstitution - coding silent
SU_SK681p.E1029Dc.3087G>CSubstitution - Missense
GKN1ENSG00000169605ENST00000377938p.N151Kc.453C>ASubstitution - Missense
ENST00000409602_v68p.A891Ac.2673C>TSubstitution - coding silent
LPAR4ENSG00000147145ENST00000435339p.G361Cc.1081G>TSubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.V1710Lc.5128G>CSubstitution - Missense
APOL4ENSG00000100336ENST00000352371p.R222Cc.664C>TSubstitution - Missense
SLC26A3ENSG00000091138ENST00000340010p.I292Ic.876C>TSubstitution - coding silent
SAGE1ENSG00000181433ENST00000324447p.M446Ic.1338G>CSubstitution - Missense
PTPRUENSG00000060656ENST00000460170p.A578Ac.1734G>ASubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.V4550Ac.13649T>CSubstitution - Missense
USH1CENSG00000006611ENST00000318024p.Y27Cc.80A>GSubstitution - Missense
PKP1ENSG00000081277ENST00000367324p.L583Lc.1747C>TSubstitution - coding silent
SPAG16ENSG00000144451ENST00000331683p.S480Yc.1439C>ASubstitution - Missense
COL4A6ENSG00000197565ENST00000334504p.G630Gc.1890G>TSubstitution - coding silent
AMOTENSG00000126016ENST00000371959p.D60Hc.178G>CSubstitution - Missense
ENST00000273600p.R3915Rc.11745C>TSubstitution - coding silent
DCCENSG00000187323ENST00000442544p.P423Tc.1267C>ASubstitution - Missense
TTC30AENSG00000197557ENST00000355689p.H222Pc.665A>CSubstitution - Missense
ENST00000217256p.P144Sc.430C>TSubstitution - Missense
SMTNENSG00000183963ENST00000358743p.L583Mc.1747C>ASubstitution - Missense
PACS1ENSG00000175115ENST00000320580p.S845Lc.2534C>TSubstitution - Missense
SLC25A34ENSG00000162461ENST00000294454p.G76Gc.228C>TSubstitution - coding silent
FAM167BENSG00000183615ENST00000373582p.R84Pc.251G>CSubstitution - Missense
PRG4ENSG00000116690ENST00000445192p.A1027Tc.3079G>ASubstitution - Missense
PIGVENSG00000060642ENST00000374145p.L55Fc.163C>TSubstitution - Missense
ACADMENSG00000117054ENST00000370841p.?c.709-8C>GUnknown
HHIPL1ENSG00000182218ENST00000357223p.R105Cc.313C>TSubstitution - Missense
ZCCHC16ENSG00000187823ENST00000340433p.C283Wc.849C>GSubstitution - Missense
MAGI1ENSG00000151276ENST00000483466p.?c.2786-6C>TUnknown
RNF213ENSG00000173821ENST00000319921p.P602Pc.1806G>ASubstitution - coding silent
CHMP6ENSG00000176108ENST00000325167p.V88Ic.262G>ASubstitution - Missense
NM_015461.1p.S58Sc.174G>ASubstitution - coding silent
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
TCP10LENSG00000242220ENST00000300258p.G213Gc.639G>ASubstitution - coding silent
DYRK1AENSG00000157540ENST00000338785p.G152Rc.454G>ASubstitution - Missense
RHPN1ENSG00000158106ENST00000289013p.E371Kc.1111G>ASubstitution - Missense
TIMP3ENSG00000100234ENST00000266085p.R186Lc.557G>TSubstitution - Missense
ENST00000404496p.L606Mc.1816C>ASubstitution - Missense
HUWE1ENSG00000086758ENST00000342160p.L3985Lc.11955G>CSubstitution - coding silent
SLC26A1ENSG00000145217ENST00000361661p.G71Gc.213C>TSubstitution - coding silent
ZNF736ENSG00000234444ENST00000355095p.F6Ic.16T>ASubstitution - Missense
XM_371474.2p.D1290Dc.3870C>TSubstitution - coding silent
SNX12ENSG00000147164ENST00000374274p.P25Lc.74C>TSubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.V4496Ic.13486G>ASubstitution - Missense
PCDHA6ENSG00000081842ENST00000378126p.C803Sc.2408G>CSubstitution - Missense
RAD51DENSG00000185379ENST00000345365p.A190Ac.570C>GSubstitution - coding silent
FAM195AENSG00000172366ENST00000307650p.A154Vc.461C>TSubstitution - Missense
FUKENSG00000157353ENST00000378912p.T349Ac.1045A>GSubstitution - Missense
HYDINENSG00000157423ENST00000321489p.Q942Rc.2825A>GSubstitution - Missense
VIPR2ENSG00000106018ENST00000262178p.A327Tc.979G>ASubstitution - Missense
SKIV2LENSG00000204351ENST00000375394p.G631Sc.1891G>ASubstitution - Missense
EIF4G1ENSG00000114867ENST00000319274p.R1170Hc.3509G>ASubstitution - Missense
POM121L12ENSG00000221900ENST00000408890p.G123Wc.367G>TSubstitution - Missense
CSPG4ENSG00000173546ENST00000308508p.R477Hc.1430G>ASubstitution - Missense
DHRS2ENSG00000100867ENST00000344777p.?c.742+4A>GUnknown
KNOP1ENSG00000103550ENST00000219837p.N209Sc.626A>GSubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.A2388Ac.7164C>ASubstitution - coding silent
DPP8ENSG00000074603ENST00000300141p.T227Sc.680C>GSubstitution - Missense
USP3ENSG00000140455ENST00000380324p.T311Mc.932C>TSubstitution - Missense
NM_003954p.R848Wc.2542C>TSubstitution - Missense
IGSF1ENSG00000147255ENST00000361420p.C1038Fc.3113G>TSubstitution - Missense
EBF2ENSG00000221818ENST00000520164p.E362Dc.1086G>TSubstitution - Missense
EFCAB5ENSG00000176927ENST00000394835p.H791Hc.2373C>TSubstitution - coding silent
TIAM1ENSG00000156299ENST00000286827p.L82Rc.245T>GSubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.L82Rc.245T>GSubstitution - Missense
SULT1B1ENSG00000173597ENST00000310613p.D222Gc.665A>GSubstitution - Missense
KIR2DS4ENSG00000221957ENST00000391729p.P226Xc.677C>ASubstitution - Missense
GGTLC1ENSG00000149435ENST00000278765p.D33Yc.97G>TSubstitution - Missense
NM_001001671.1p.E457Dc.1371G>CSubstitution - Missense
PLOD3ENSG00000106397ENST00000223127p.?c.1501-10C>TUnknown
ITPR1ENSG00000150995ENST00000456211p.?c.1841+8G>AUnknown
OTUD6AENSG00000189401ENST00000338352p.I233fs*3c.692delCDeletion - Frameshift
NM_003866.1p.V201Vc.603A>GSubstitution - coding silent
FZD2ENSG00000180340ENST00000315323p.F537Lc.1611C>ASubstitution - Missense
G6PCENSG00000131482ENST00000253801p.V232Ic.694G>ASubstitution - Missense
SNAP91ENSG00000065609ENST00000439399p.S121Sc.363T>CSubstitution - coding silent
ZSCAN12ENSG00000158691ENST00000361028p.E557Ec.1671G>ASubstitution - coding silent
AXLENSG00000167601ENST00000359092p.T284Pc.850A>CSubstitution - Missense
FGF13ENSG00000129682ENST00000315930p.?c.403-2A>CUnknown
NHP2ENSG00000145912ENST00000274606p.P123Pc.369C>TSubstitution - coding silent
TMEM132DENSG00000151952ENST00000389441p.I603Ic.1809C>ASubstitution - coding silent
AP1B1ENSG00000100280ENST00000415447p.N99Sc.296A>GSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.G1545Wc.4633G>TSubstitution - Missense
RB1ENSG00000139687ENST00000267163p.Y321*c.963C>ASubstitution - Nonsense
UGT1A8ENSG00000241635ENST00000360418p.Q438Qc.1314G>ASubstitution - coding silent
FAM81BENSG00000153347ENST00000283357p.K14Kc.42A>GSubstitution - coding silent
ADAMTSL1ENSG00000178031ENST00000380548p.R1690Qc.5069G>ASubstitution - Missense
GRIN3AENSG00000198785ENST00000361820p.M473Ic.1419G>ASubstitution - Missense
CEP85LENSG00000111860ENST00000368491p.Y414Yc.1242T>CSubstitution - coding silent
SORBS2ENSG00000154556ENST00000437304p.P32Pc.96A>CSubstitution - coding silent
L1CAMENSG00000198910ENST00000370060p.S1032Gc.3094A>GSubstitution - Missense
RAD51DENSG00000185379ENST00000335858p.A78Ac.234C>GSubstitution - coding silent
FGF13ENSG00000129682ENST00000305414p.?c.244-2A>CUnknown
GRM4ENSG00000124493ENST00000374181p.T132Ic.395C>TSubstitution - Missense
ZNF91ENSG00000167232ENST00000300619p.R1070Ic.3209G>TSubstitution - Missense
USP48ENSG00000090686ENST00000308271p.L605Lc.1815A>GSubstitution - coding silent
KLF5ENSG00000102554ENST00000377687p.H218Hc.654T>CSubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.N4292Nc.12876T>CSubstitution - coding silent
FLNAENSG00000196924ENST00000369850p.G702Sc.2104G>ASubstitution - Missense
HOMEZENSG00000215271ENST00000357460p.M104Tc.311T>CSubstitution - Missense
GOLGA6L10ENSG00000205281ENST00000439287p.N471Sc.1412A>GSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.R1702Cc.5104C>TSubstitution - Missense
SLC6A5ENSG00000165970ENST00000525748p.P456Pc.1368C>ASubstitution - coding silent
CXCR5ENSG00000160683ENST00000292174p.D25Vc.74A>TSubstitution - Missense
IGSF22ENSG00000179057ENST00000513874p.T527Tc.1581T>ASubstitution - coding silent
TRHDEENSG00000072657ENST00000261180p.I790Vc.2368A>GSubstitution - Missense
C16orf45ENSG00000166780ENST00000300006p.E93Ec.279G>ASubstitution - coding silent
HCAR2ENSG00000182782ENST00000328880p.M346Vc.1036A>GSubstitution - Missense
PXDNLENSG00000147485ENST00000356297p.T1312Tc.3936G>TSubstitution - coding silent
ENST00000300671p.L2104Lc.6312G>ASubstitution - coding silent
TSR1ENSG00000167721ENST00000301364p.T108Sc.322A>TSubstitution - Missense
PIGNENSG00000197563ENST00000357637p.L915Lc.2745C>TSubstitution - coding silent
KIR2DS4ENSG00000221957ENST00000391729p.P226Tc.676C>ASubstitution - Missense
LMF1ENSG00000103227ENST00000262301p.I402Vc.1204A>GSubstitution - Missense
DCLK3ENSG00000163673ENST00000416516p.V506Vc.1518G>ASubstitution - coding silent
SSBP4ENSG00000130511ENST00000270061p.A97Ac.291C>TSubstitution - coding silent
OR14J1ENSG00000204695ENST00000377160p.K20Ec.58A>GSubstitution - Missense
MAGEC3ENSG00000165509ENST00000298296p.E506Kc.1516G>ASubstitution - Missense
SLAMF6ENSG00000162739ENST00000368057p.?c.647-7T>CUnknown
PTCHD2ENSG00000204624ENST00000389575p.A938Ac.2814C>TSubstitution - coding silent
OR5L2ENSG00000205030ENST00000378397p.A119Dc.356C>ASubstitution - Missense
ARHGAP33ENSG00000004777ENST00000378944p.G510Gc.1530G>TSubstitution - coding silent
OR10J3ENSG00000196266ENST00000332217p.I259Ic.777C>ASubstitution - coding silent
KIRREL3ENSG00000149571ENST00000525144p.I678Ic.2034C>ASubstitution - coding silent
SLC25A45ENSG00000162241ENST00000398802p.Q230Qc.690G>ASubstitution - coding silent
STAB2ENSG00000136011ENST00000388887p.?c.2259+3G>AUnknown
FAM171A1ENSG00000148468ENST00000378116p.D248Gc.743A>GSubstitution - Missense
NTNG1ENSG00000162631ENST00000370071p.L99Mc.295C>ASubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.N2514Ic.7541A>TSubstitution - Missense
NUP155ENSG00000113569ENST00000231498p.C1344Yc.4031G>ASubstitution - Missense
ENST00000545858p.R82fs*72c.245delGDeletion - Frameshift
KIAA1045ENSG00000122733ENST00000242315p.G167Ec.500G>ASubstitution - Missense
GPR15ENSG00000154165ENST00000284311p.A351Dc.1052C>ASubstitution - Missense
EPHA6ENSG00000080224ENST00000389672p.F109Lc.327C>ASubstitution - Missense
ZNF860ENSG00000197385ENST00000360311p.I225Vc.673A>GSubstitution - Missense
BRAT1ENSG00000106009ENST00000340611p.P187Pc.561G>ASubstitution - coding silent
CDH18ENSG00000145526ENST00000382275p.A756Sc.2266G>TSubstitution - Missense
POM121ENSG00000196313ENST00000257622p.R209Kc.626G>ASubstitution - Missense
KIAA1009ENSG00000135315ENST00000403245p.R552Sc.1656G>TSubstitution - Missense
NPSR1ENSG00000187258ENST00000359791p.R360Rc.1078C>ASubstitution - coding silent
PDGFRAENSG00000134853ENST00000257290p.T200Sc.599C>GSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.S2125Ic.6374G>TSubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.D766Ec.2298C>ASubstitution - Missense
ENST00000329144p.I211Ic.633T>CSubstitution - coding silent
AMPHENSG00000078053ENST00000356264p.S377Cc.1130C>GSubstitution - Missense
PTPRUENSG00000060656ENST00000460170p.A578Ac.1734G>ASubstitution - coding silent
RFX4ENSG00000111783ENST00000357881p.R503Qc.1508G>ASubstitution - Missense
FLNAENSG00000196924ENST00000369850p.G702Sc.2104G>ASubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.D766Ec.2298C>ASubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.L2268Vc.6802C>GSubstitution - Missense
CDK5RAP2ENSG00000136861ENST00000349780p.K455Rc.1364A>GSubstitution - Missense
SAGE1ENSG00000181433ENST00000535938p.M446Ic.1338G>CSubstitution - Missense
C1orf173ENSG00000178965ENST00000326665p.R111Mc.332G>TSubstitution - Missense
LIN7CENSG00000148943ENST00000278193p.P7Pc.21C>ASubstitution - coding silent
MYO1AENSG00000166866ENST00000300119p.V253fs*27c.756_760delAGTGADeletion - Frameshift
LY9ENSG00000122224ENST00000368041p.A270Ac.810A>TSubstitution - coding silent
NPR1ENSG00000169418ENST00000368680p.T866Tc.2598G>ASubstitution - coding silent
CCNB2ENSG00000157456ENST00000288207p.K275Tc.824A>CSubstitution - Missense
SERPINA1ENSG00000197249ENST00000440909p.A24Pc.70G>CSubstitution - Missense
PLEKHN1ENSG00000187583ENST00000379409p.R168Qc.503G>ASubstitution - Missense
KRTAP9-1ENSG00000240542ENST00000398470p.M1Ic.3G>TSubstitution - Missense
KCNH8ENSG00000183960ENST00000328405p.A1078Ec.3233C>ASubstitution - Missense
MAGEB17ENSG00000182798ENST00000400004p.R234Tc.701G>CSubstitution - Missense
CCDC104ENSG00000163001ENST00000349456p.R272Qc.815G>ASubstitution - Missense
KLC4ENSG00000137171ENST00000394056p.A355Ac.1065C>TSubstitution - coding silent
MAATS1ENSG00000183833ENST00000273390p.V165Ic.493G>ASubstitution - Missense
CEP63ENSG00000182923ENST00000337090p.R150Hc.449G>ASubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.S3774Pc.11320T>CSubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.P1965Pc.5895G>ASubstitution - coding silent
AXLENSG00000167601ENST00000301178p.T284Pc.850A>CSubstitution - Missense
OR5M9ENSG00000150269ENST00000279791p.I198Tc.593T>CSubstitution - Missense
ACADMENSG00000117054ENST00000420607p.?c.721-8C>GUnknown
MAELENSG00000143194ENST00000367872p.E125Qc.373G>CSubstitution - Missense
OR2T33ENSG00000177212ENST00000318021p.S145Sc.435G>ASubstitution - coding silent
CASKENSG00000147044ENST00000378166p.D498Gc.1493A>GSubstitution - Missense
MYCBP2ENSG00000005810ENST00000407578p.V1374Vc.4122T>GSubstitution - coding silent
PSMD13ENSG00000185627ENST00000532097p.G126Rc.376G>ASubstitution - Missense
ENSG00000204038ENST00000356374p.C52*c.156C>ASubstitution - Nonsense
ART4ENSG00000111339ENST00000228936p.T210Ac.628A>GSubstitution - Missense
USH1CENSG00000006611ENST00000005226p.G514Gc.1542G>CSubstitution - coding silent
NOS1ENSG00000089250ENST00000317775p.A765Dc.2294C>ASubstitution - Missense
RNF151ENSG00000179580ENST00000321392p.V80Gc.239T>GSubstitution - Missense
CEP89ENSG00000121289ENST00000305768p.G141Gc.423G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.R175fs*72c.524delGDeletion - Frameshift
EBF2ENSG00000221818ENST00000520164p.E362Dc.1086G>TSubstitution - Missense
ENST00000380102_v68p.A342Ac.1026C>ASubstitution - coding silent
C8orf37ENSG00000156172ENST00000286688p.W185*c.555G>ASubstitution - Nonsense
WDR27ENSG00000184465ENST00000448612p.V414Lc.1240G>TSubstitution - Missense
ABATENSG00000183044ENST00000396600p.I245Vc.733A>GSubstitution - Missense
ENST00000405167p.P2784Rc.8351C>GSubstitution - Missense
ILDR1ENSG00000145103ENST00000344209p.R466Rc.1398C>TSubstitution - coding silent
FCHO1ENSG00000130475ENST00000252771p.G868Gc.2604C>TSubstitution - coding silent
ATP13A1ENSG00000105726ENST00000357324p.R160Hc.479G>ASubstitution - Missense
ZNF221ENSG00000159905ENST00000251269p.E157Qc.469G>CSubstitution - Missense
ZNF283ENSG00000167637ENST00000324461p.?c.9+8G>TUnknown
MAP4K4ENSG00000071054ENST00000350198p.S1112Tc.3334T>ASubstitution - Missense
SRPXENSG00000101955ENST00000343800p.C107Yc.320G>ASubstitution - Missense
CYFIP2ENSG00000055163ENST00000435847p.R774Rc.2322C>TSubstitution - coding silent
FBXO24ENSG00000106336ENST00000427939p.P247Pc.741G>ASubstitution - coding silent
TAF1AENSG00000143498ENST00000352967p.R375Wc.1123A>TSubstitution - Missense
RASSF9ENSG00000198774ENST00000361228p.P153Lc.458C>TSubstitution - Missense
FAM171A1ENSG00000148468ENST00000378116p.D248Gc.743A>GSubstitution - Missense
IGSF22ENSG00000179057ENST00000319338p.T527Tc.1581T>ASubstitution - coding silent
DAB2ENSG00000153071ENST00000320816p.S541Rc.1621A>CSubstitution - Missense
TSHRENSG00000165409ENST00000541158p.E376Kc.1126G>ASubstitution - Missense
WDR78ENSG00000152763ENST00000371026p.W589Sc.1766G>CSubstitution - Missense
CCDC136ENSG00000128596ENST00000297788p.R293Wc.877C>TSubstitution - Missense
LRIG1ENSG00000144749ENST00000383703p.T748Mc.2243C>TSubstitution - Missense
MAGI1ENSG00000151276ENST00000330909p.?c.2786-6C>TUnknown
SCGNENSG00000079689ENST00000377961p.R131Lc.392G>TSubstitution - Missense
EPHB6ENSG00000106123ENST00000392957p.R283fs*12c.844delCDeletion - Frameshift
SLC26A1ENSG00000145217ENST00000398520p.G71Gc.213C>TSubstitution - coding silent
AOC1ENSG00000002726ENST00000416793p.F397Sc.1190T>CSubstitution - Missense
ZDHHC16ENSG00000171307ENST00000370846p.L211Pc.632T>CSubstitution - Missense
LRRC56ENSG00000161328ENST00000270115p.P351Pc.1053C>TSubstitution - coding silent
OR5L2ENSG00000205030ENST00000378397p.R234Rc.702G>ASubstitution - coding silent
OR8U1ENSG00000172199ENST00000302270p.S263Ic.788G>TSubstitution - Missense
CNTN1ENSG00000018236ENST00000547849p.A410Ac.1230G>TSubstitution - coding silent
PDZRN4ENSG00000165966ENST00000298919p.Q202Ec.604C>GSubstitution - Missense
NTNG1ENSG00000162631ENST00000542803p.L99Mc.295C>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.V4550Ac.13649T>CSubstitution - Missense
DPP8ENSG00000074603ENST00000341861p.T243Sc.728C>GSubstitution - Missense
ITFG3ENSG00000167930ENST00000450082p.V484Vc.1452C>TSubstitution - coding silent
HAP1ENSG00000173805ENST00000310778p.A389Ac.1167C>TSubstitution - coding silent
DNAH17ENSG00000187775ENST00000389840p.S2491Sc.7473G>ASubstitution - coding silent
ATP13A1ENSG00000105726ENST00000291503p.R42Hc.125G>ASubstitution - Missense
MAST3ENSG00000099308ENST00000262811p.S882Sc.2646C>TSubstitution - coding silent
ENST00000358661p.H250Yc.748C>TSubstitution - Missense
ZNF283ENSG00000167637ENST00000310738p.?c.102+8G>TUnknown
MERTKENSG00000153208ENST00000295408p.R796Wc.2386C>TSubstitution - Missense
MAP4K4ENSG00000071054ENST00000350878p.S1225Tc.3673T>ASubstitution - Missense
DHX36ENSG00000174953ENST00000544526p.S209Sc.627G>TSubstitution - coding silent
ILDR1ENSG00000145103ENST00000462014p.R434Rc.1302C>TSubstitution - coding silent
MAATS1ENSG00000183833ENST00000463700p.V165Ic.493G>ASubstitution - Missense
INPP4BENSG00000109452ENST00000513000p.V201Vc.603A>GSubstitution - coding silent
SLC30A3ENSG00000115194ENST00000447008p.Y257Cc.770A>GSubstitution - Missense
FAM120BENSG00000112584ENST00000537664p.D786Hc.2356G>CSubstitution - Missense
PTCHD4ENSG00000244694ENST00000543600p.H134Nc.400C>ASubstitution - Missense
AMPHENSG00000078053ENST00000428293p.L643Vc.1927C>GSubstitution - Missense
AMPHENSG00000078053ENST00000428293p.S377Cc.1130C>GSubstitution - Missense
POM121ENSG00000196313ENST00000434423p.R474Kc.1421G>ASubstitution - Missense
ZNF789ENSG00000198556ENST00000379724p.G7Ec.20G>ASubstitution - Missense
OLFML2AENSG00000185585ENST00000288815p.G315Cc.943G>TSubstitution - Missense
SETXENSG00000107290ENST00000372169p.M309Ic.927G>CSubstitution - Missense
ENST00000376256p.V133Fc.397G>TSubstitution - Missense
MAP3K15ENSG00000180815ENST00000338883p.E982Dc.2946G>CSubstitution - Missense
ENST00000369498_v70p.Q120Hc.360G>TSubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.E1098*c.3292G>TSubstitution - Nonsense
KRTAP5-7ENSG00000244411ENST00000398536p.S69Sc.207C>TSubstitution - coding silent
SLAMF6ENSG00000162739ENST00000368059p.?c.647-7T>CUnknown
CLCN7ENSG00000103249ENST00000382745p.?c.1099-10C>TUnknown
MYO3AENSG00000095777ENST00000265944p.S575Sc.1725C>GSubstitution - coding silent
TMEM132DENSG00000151952ENST00000422113p.I1065Ic.3195C>ASubstitution - coding silent
TTNENSG00000155657ENST00000342992p.P17406Ac.52216C>GSubstitution - Missense
DFNA5ENSG00000105928ENST00000342947p.D204Vc.611A>TSubstitution - Missense
PDXPENSG00000241360ENST00000215904p.L159Lc.475C>TSubstitution - coding silent
EEF2ENSG00000167658ENST00000309311p.?c.218+10C>TUnknown
TNXBENSG00000168477ENST00000375244p.S2384Sc.7152T>GSubstitution - coding silent
CASP14ENSG00000105141ENST00000427043p.R212Wc.634C>TSubstitution - Missense
DNAH17ENSG00000187775ENST00000389840p.L2095Lc.6285G>ASubstitution - coding silent
PRRC2BENSG00000130723ENST00000357304p.G1545Wc.4633G>TSubstitution - Missense
ARHGEF39ENSG00000137135ENST00000378387p.R217Cc.649C>TSubstitution - Missense
MSS51ENSG00000166343ENST00000372912p.R122Wc.364C>TSubstitution - Missense
SLC35C1ENSG00000181830ENST00000314134p.N235fs*23c.702_703insAInsertion - Frameshift
OSBPENSG00000110048ENST00000263847p.S351Sc.1053C>TSubstitution - coding silent
ENST00000414575p.A100_G101insAc.271_272insCTGInsertion - In frame
ENST00000356127p.K4322Ic.12965A>TSubstitution - Missense
NM_015461.1p.M428Ic.1284G>TSubstitution - Missense
CNGA1ENSG00000198515ENST00000358519p.K520Rc.1559A>GSubstitution - Missense
SCGNENSG00000079689ENST00000377961p.R131Cc.391C>TSubstitution - Missense
CDH18ENSG00000145526ENST00000507958p.A756Sc.2266G>TSubstitution - Missense
PLA1AENSG00000144837ENST00000273371p.C434Yc.1301G>ASubstitution - Missense
CEP85LENSG00000111860ENST00000368488p.Y417Yc.1251T>CSubstitution - coding silent
KIAA1009ENSG00000135315ENST00000403245p.E529Qc.1585G>CSubstitution - Missense
GABBR1ENSG00000204681ENST00000377034p.?c.1323+1G>TUnknown
PKHD1L1ENSG00000205038ENST00000378402p.?c.2092-5G>CUnknown
MMDENSG00000108960ENST00000262065p.?c.344+10A>GUnknown
CA4ENSG00000167434ENST00000300900p.N86Nc.258C>TSubstitution - coding silent
ZNF345ENSG00000251247ENST00000420450p.G242Ac.725G>CSubstitution - Missense
FAM105BENSG00000154124ENST00000284274p.R338Rc.1014G>ASubstitution - coding silent
SETXENSG00000107290ENST00000224140p.M309Ic.927G>CSubstitution - Missense
C9orf40ENSG00000135045ENST00000376854p.S71Sc.213C>TSubstitution - coding silent
AGTPBP1ENSG00000135049ENST00000376083p.D378Gc.1133A>GSubstitution - Missense
AGTPBP1ENSG00000135049ENST00000357081p.D418Gc.1253A>GSubstitution - Missense
HNRNPKENSG00000165119ENST00000376281p.V202Fc.604G>TSubstitution - Missense
KIF27ENSG00000165115ENST00000297814p.D1326Ec.3978T>ASubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.R5232Cc.15694C>TSubstitution - Missense
SDK1ENSG00000146555ENST00000404826p.?c.2421-4G>TUnknown
FGF13ENSG00000129682ENST00000370603p.?c.433-2A>CUnknown
MAGEC1ENSG00000155495ENST00000285879p.L211Lc.631T>CSubstitution - coding silent
MAGEC1ENSG00000155495ENST00000285879p.L211Fc.633G>TSubstitution - Missense
MAGEC3ENSG00000165509ENST00000544766p.E208Kc.622G>ASubstitution - Missense
FMR1NBENSG00000176988ENST00000370467p.A27Gc.80C>GSubstitution - Missense
ZNF185ENSG00000147394ENST00000535861p.R61Rc.183C>TSubstitution - coding silent
MAGEA6ENSG00000197172ENST00000329342p.S264Sc.792T>CSubstitution - coding silent
PCDHB13ENSG00000187372ENST00000341948p.A533Ac.1599T>CSubstitution - coding silent
PCDHB4ENSG00000081818ENST00000194152p.V640Ac.1919T>CSubstitution - Missense
CYFIP2ENSG00000055163ENST00000318218p.R1100Rc.3300C>TSubstitution - coding silent
CYFIP2ENSG00000055163ENST00000442283p.R1100Rc.3300C>TSubstitution - coding silent
CYFIP2ENSG00000055163ENST00000377576p.R1075Rc.3225C>TSubstitution - coding silent
NKAPLENSG00000189134ENST00000343684p.E247*c.739G>TSubstitution - Nonsense
HLA-GENSG00000204632ENST00000360323p.Q248Kc.742C>ASubstitution - Missense
MDC1ENSG00000137337ENST00000376406p.P1965Pc.5895G>ASubstitution - coding silent
HLA-BENSG00000234745ENST00000412585p.S48Tc.142T>ASubstitution - Missense
AOC1ENSG00000002726ENST00000360937p.F397Sc.1190T>CSubstitution - Missense
GIMAP1ENSG00000213203ENST00000307194p.A20Pc.58G>CSubstitution - Missense
MCM7ENSG00000166508ENST00000303887p.R225Qc.674G>ASubstitution - Missense
MCM7ENSG00000166508ENST00000354230p.R49Qc.146G>ASubstitution - Missense
CTHRC1ENSG00000164932ENST00000520337p.Y37Fc.110A>TSubstitution - Missense
C8orf74ENSG00000171060ENST00000304519p.R40Rc.118C>ASubstitution - coding silent
FUKENSG00000157353ENST00000288078p.T317Ac.949A>GSubstitution - Missense
DDX19BENSG00000157349ENST00000288071p.A330Vc.989C>TSubstitution - Missense
DDX19BENSG00000157349ENST00000288071p.A330Vc.989C>TSubstitution - Missense
ENST00000316490_v65p.Q942Rc.2825A>GSubstitution - Missense
ENST00000316490p.Q942Rc.2825A>GSubstitution - Missense
ENST00000335106p.R1531Cc.4591C>TSubstitution - Missense
IL27RAENSG00000104998ENST00000263379p.G134Vc.401G>TSubstitution - Missense
LIPEENSG00000079435ENST00000244289p.N967Sc.2900A>GSubstitution - Missense
PSG2ENSG00000242221ENST00000406487p.?c.64+6G>TUnknown
ZNF283ENSG00000167637ENST00000324461p.?c.210+8G>TUnknown
ENST00000373263p.T8Tc.24C>TSubstitution - coding silent
CENPBENSG00000125817ENST00000379751p.G137Vc.410G>TSubstitution - Missense
RIF1ENSG00000080345ENST00000444746p.K547Ec.1639A>GSubstitution - Missense
YDJCENSG00000161179ENST00000292778p.R20Gc.58C>GSubstitution - Missense
IFIH1ENSG00000115267ENST00000263642p.A339Tc.1015G>ASubstitution - Missense
TMEM71ENSG00000165071ENST00000356838p.D38Hc.112G>CSubstitution - Missense
OLFML2AENSG00000185585ENST00000373580p.G529Cc.1585G>TSubstitution - Missense
TYRP1ENSG00000107165ENST00000388918p.P426Qc.1277C>ASubstitution - Missense
PRRC2BENSG00000130723ENST00000357304p.S2125Ic.6374G>TSubstitution - Missense
LAMC3ENSG00000050555ENST00000361069p.M1383Kc.4148T>ASubstitution - Missense
CHRDENSG00000090539ENST00000204604p.G715Gc.2145G>TSubstitution - coding silent
ENST00000342610p.G428Gc.1284G>TSubstitution - coding silent
ATP13A5ENSG00000187527ENST00000342358p.D854Yc.2560G>TSubstitution - Missense
PALLDENSG00000129116ENST00000261509p.S118*c.353C>GSubstitution - Nonsense
SKIV2LENSG00000204351ENST00000375394p.G631Sc.1891G>ASubstitution - Missense
TNXBENSG00000168477ENST00000375247p.S2471Sc.7413T>GSubstitution - coding silent
GRM4ENSG00000124493ENST00000374181p.T132Ic.395C>TSubstitution - Missense
PKHD1ENSG00000170927ENST00000340994p.L2268Vc.6802C>GSubstitution - Missense
PTCHD4ENSG00000244694ENST00000339488p.H151Nc.451C>ASubstitution - Missense
B2MENSG00000166710ENST00000544417p.L15fs*41c.37_38delCTDeletion - Frameshift
FBXO41ENSG00000163013ENST00000295133p.T375Tc.1125G>ASubstitution - coding silent
CYP26B1ENSG00000003137ENST00000001146p.L264Lc.792G>ASubstitution - coding silent
SUCNR1ENSG00000198829ENST00000362032p.F34Fc.102C>TSubstitution - coding silent
DHX36ENSG00000174953ENST00000496811p.S209Sc.627G>TSubstitution - coding silent
C4orf21ENSG00000138658ENST00000505019p.A1107Tc.3319G>ASubstitution - Missense
ENPEPENSG00000138792ENST00000265162p.L136Lc.408C>ASubstitution - coding silent
PCDH18ENSG00000189184ENST00000344876p.L158Lc.474G>CSubstitution - coding silent
C5orf22ENSG00000082213ENST00000325366p.G201Vc.602G>TSubstitution - Missense
STXBP5ENSG00000164506ENST00000321680p.Y158Yc.474T>CSubstitution - coding silent
STXBP5ENSG00000164506ENST00000367481p.Y158Yc.474T>CSubstitution - coding silent
FGL2ENSG00000127951ENST00000248598p.K294Kc.882G>ASubstitution - coding silent
FUNDC2ENSG00000165775ENST00000369498p.Q120Hc.360G>TSubstitution - Missense
FAM3AENSG00000071889ENST00000359889p.*231Wc.692A>GNonstop extension
PHEXENSG00000102174ENST00000379374p.K251Ec.751A>GSubstitution - Missense
MAGEB17ENSG00000182798ENST00000329538p.R234Tc.701G>CSubstitution - Missense
MAGEB2ENSG00000099399ENST00000378988p.A18Dc.53C>ASubstitution - Missense
POLA1ENSG00000101868ENST00000379059p.E276*c.826G>TSubstitution - Nonsense
NM_006343p.R796Wc.2386C>TSubstitution - Missense
TFCP2L1ENSG00000115112ENST00000263707p.D395Gc.1184A>GSubstitution - Missense
TSPYL6ENSG00000178021ENST00000317802p.P116Pc.348G>ASubstitution - coding silent
NM_053025p.A927Sc.2779G>TSubstitution - Missense
TRHENSG00000170893ENST00000302649p.V97Ic.289G>ASubstitution - Missense
PARVGENSG00000138964ENST00000422871p.A147Dc.440C>ASubstitution - Missense
PNPLA3ENSG00000100344ENST00000216180p.S9Sc.27C>TSubstitution - coding silent
CHL1ENSG00000134121ENST00000256509p.T790Kc.2369C>ASubstitution - Missense
XM_371474.2p.C1292Cc.3876C>TSubstitution - coding silent
ARHGEF28ENSG00000214944ENST00000545377p.V810Vc.2430T>GSubstitution - coding silent
ARHGEF28ENSG00000214944ENST00000296794p.V810Vc.2430T>GSubstitution - coding silent
LRFN2ENSG00000156564ENST00000338305p.V759Dc.2276T>ASubstitution - Missense
KLC4ENSG00000137171ENST00000259708p.A373Ac.1119C>TSubstitution - coding silent
MUC17ENSG00000169876ENST00000306151p.T387Tc.1161T>ASubstitution - coding silent
WBSCR17ENSG00000185274ENST00000333538p.E570*c.1708G>TSubstitution - Nonsense
WNK3ENSG00000196632ENST00000354646p.A1477Sc.4429G>TSubstitution - Missense
MTMR8ENSG00000102043ENST00000374852p.V217Vc.651A>TSubstitution - coding silent
MTMR8ENSG00000102043ENST00000453546p.V217Vc.651A>TSubstitution - coding silent
NLGN4XENSG00000146938ENST00000381095p.A288Sc.862G>TSubstitution - Missense
XM_060054.3p.?c.194-10T>CUnknown
ZMYM3ENSG00000147130ENST00000314425p.P116Tc.346C>ASubstitution - Missense
IGBP1ENSG00000089289ENST00000342206p.K44Nc.132G>CSubstitution - Missense
SLC16A2ENSG00000147100ENST00000276033p.G282Vc.845G>TSubstitution - Missense
ZCCHC13ENSG00000187969ENST00000339534p.P158Tc.472C>ASubstitution - Missense
SU_MAST3p.S904Sc.2712C>TSubstitution - coding silent
ENST00000331219p.C121Cc.363C>TSubstitution - coding silent
TBC1D10BENSG00000169221ENST00000409939p.G787Gc.2361G>ASubstitution - coding silent
ENST00000305663p.G512Gc.1536G>ASubstitution - coding silent
POTEJENSG00000222038ENST00000409602p.A891Ac.2673C>TSubstitution - coding silent
AK131216.1p.V609Vc.1827G>TSubstitution - coding silent
B4GALT4ENSG00000121578ENST00000393765p.?c.486+9G>CUnknown
ZBTB20ENSG00000181722ENST00000474710p.K313fs*11c.938delADeletion - Frameshift
ZBTB20ENSG00000181722ENST00000357258p.K240fs*11c.719delADeletion - Frameshift
ZDHHC23ENSG00000184307ENST00000330212p.G193Ac.578G>CSubstitution - Missense
ILDR1ENSG00000145103ENST00000273691p.R422Rc.1266C>TSubstitution - coding silent
PRR23AENSG00000206260ENST00000383163p.L82Lc.246C>GSubstitution - coding silent
KAL1ENSG00000011201ENST00000262648p.?c.1985-8C>AUnknown
CHD1ENSG00000153922ENST00000284049p.Y225Hc.673T>CSubstitution - Missense
DDX17ENSG00000100201ENST00000403230p.L248Lc.744A>GSubstitution - coding silent
DDX17ENSG00000100201ENST00000381633p.L169Lc.507A>GSubstitution - coding silent
ENST00000368626p.F47Lc.139T>CSubstitution - Missense
SLC35F1ENSG00000196376ENST00000360388p.V405Lc.1213G>CSubstitution - Missense
ZNF462ENSG00000148143ENST00000457913p.G137Ec.410G>ASubstitution - Missense
TMEM246ENSG00000165152ENST00000374848p.R17Qc.50G>ASubstitution - Missense
ACTL7AENSG00000187003ENST00000333999p.N258Yc.772A>TSubstitution - Missense
RAD51DENSG00000185379ENST00000394589p.A210Ac.630C>GSubstitution - coding silent
DHX58ENSG00000108771ENST00000251642p.G165Gc.495T>ASubstitution - coding silent
DYRK1AENSG00000157540ENST00000398960p.G152Rc.454G>ASubstitution - Missense
LIMCH1ENSG00000064042ENST00000396595p.V7Vc.21C>GSubstitution - coding silent
DNAH1ENSG00000114841ENST00000420323p.R3851Rc.11553C>TSubstitution - coding silent
FAM120BENSG00000112584ENST00000476287p.D763Hc.2287G>CSubstitution - Missense
FAM8A1ENSG00000137414ENST00000259963p.A190Tc.568G>ASubstitution - Missense
WDR27ENSG00000184465ENST00000333572p.V414Lc.1240G>TSubstitution - Missense
RHPN1ENSG00000158106ENST00000289013p.E371Kc.1111G>ASubstitution - Missense
PTCD1ENSG00000106246ENST00000292478p.F3Fc.9C>TSubstitution - coding silent
ZNF789ENSG00000198556ENST00000331410p.G7Ec.20G>ASubstitution - Missense
TONSLENSG00000160949ENST00000409379p.P412Lc.1235C>TSubstitution - Missense
ENST00000292520p.P253Lc.758C>TSubstitution - Missense
ENST00000357934p.P582Sc.1744C>TSubstitution - Missense
ENST00000356067p.P560Sc.1678C>TSubstitution - Missense
GDAP1ENSG00000104381ENST00000220822p.Y280Yc.840C>TSubstitution - coding silent
EPG5ENSG00000152223ENST00000282041p.E683fs*7c.2046delTDeletion - Frameshift
GLP2RENSG00000065325ENST00000262441p.K89Rc.266A>GSubstitution - Missense
KIR2DL4ENSG00000189013ENST00000396284p.L182Lc.546G>ASubstitution - coding silent
NLRP2ENSG00000022556ENST00000543010p.?c.2709-5T>GUnknown
GGTLC1ENSG00000149435ENST00000335694p.D33Yc.97G>TSubstitution - Missense
ENST00000356127p.P17404Ac.52210C>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.P11101Ac.33301C>GSubstitution - Missense
NM_003319p.P10909Ac.32725C>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.C8719Fc.26156G>TSubstitution - Missense
ENST00000356127p.C8719Fc.26156G>TSubstitution - Missense
CCDC150ENSG00000144395ENST00000389175p.G60Sc.178G>ASubstitution - Missense
ICOSENSG00000163600ENST00000316386p.G146Gc.438A>TSubstitution - coding silent
CDK15ENSG00000138395ENST00000410091p.M364Lc.1090A>CSubstitution - Missense
CDK15ENSG00000138395ENST00000374598p.M415Lc.1243A>CSubstitution - Missense
GPR113ENSG00000173567ENST00000311519p.E540Kc.1618G>ASubstitution - Missense
ITGADENSG00000156886ENST00000389202p.G1148Rc.3442G>ASubstitution - Missense
MVDENSG00000167508ENST00000301012p.?c.1122+10G>TUnknown
NLRP12ENSG00000142405ENST00000324134p.H1024Yc.3070C>TSubstitution - Missense
DIDO1ENSG00000101191ENST00000395343p.?c.3077_3101+17del42Unknown
MYT1ENSG00000196132ENST00000536311p.V137Fc.409G>TSubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.A714Ac.2142C>TSubstitution - coding silent
AP1B1ENSG00000100280ENST00000357586p.N99Sc.296A>GSubstitution - Missense
SMTNENSG00000183963ENST00000333137p.L583Mc.1747C>ASubstitution - Missense
SLC30A3ENSG00000115194ENST00000233535p.Y262Cc.785A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P5323Lc.15968C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000346145p.P1087Lc.3260C>TSubstitution - Missense
ENST00000405167p.P5195Lc.15584C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P2784Rc.8351C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.D3229Yc.9685G>TSubstitution - Missense
NRROSENSG00000174004ENST00000328557p.F286Lc.858C>ASubstitution - Missense
MINAENSG00000170854ENST00000360258p.R207*c.619C>TSubstitution - Nonsense
SU_EPHA6p.F15Lc.45C>ASubstitution - Missense
ENST00000338994p.F15Lc.45C>ASubstitution - Missense
COL8A1ENSG00000144810ENST00000273342p.A612Gc.1835C>GSubstitution - Missense
SLC20A2ENSG00000168575ENST00000342228p.G450Dc.1349G>ASubstitution - Missense
SRPXENSG00000101955ENST00000378533p.C120Yc.359G>ASubstitution - Missense
XM_372202.2p.P415Pc.1245G>ASubstitution - coding silent
XKENSG00000047597ENST00000378616p.S140Sc.420G>ASubstitution - coding silent
TMEM47ENSG00000147027ENST00000275954p.S129Rc.387C>GSubstitution - Missense
ARAFENSG00000078061ENST00000377045p.L180Vc.538C>GSubstitution - Missense
ZNF630ENSG00000221994ENST00000409324p.?c.143-8C>AUnknown
XM_497119.1p.L3875Lc.11625G>CSubstitution - coding silent
AKAP4ENSG00000147081ENST00000358526p.Y816fs*21c.2441_2442insGInsertion - Frameshift
NM_145686p.S1266Tc.3796T>ASubstitution - Missense
ZNF860ENSG00000197385ENST00000360311p.I225Vc.673A>GSubstitution - Missense
SCN5AENSG00000183873ENST00000413689p.R340Lc.1019G>TSubstitution - Missense
ENST00000333535_v68p.R340Lc.1019G>TSubstitution - Missense
SCN5AENSG00000183873ENST00000333535p.R340Lc.1019G>TSubstitution - Missense
ACVR2BENSG00000114739ENST00000352511p.G341Gc.1023C>TSubstitution - coding silent
ACVR2BENSG00000114739ENST00000352511p.G341Gc.1023C>TSubstitution - coding silent
SAMD4AENSG00000020577ENST00000357634p.L283Ic.847C>ASubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.M986Ic.2958G>ASubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.M986Ic.2958G>ASubstitution - Missense
UNC79ENSG00000133958ENST00000256339p.A2189Ac.6567C>ASubstitution - coding silent
KIAA0101ENSG00000166803ENST00000300035p.S37Sc.111A>CSubstitution - coding silent
CHRM5ENSG00000184984ENST00000383263p.T443Ic.1328C>TSubstitution - Missense
CARD6ENSG00000132357ENST00000254691p.S389Yc.1166C>ASubstitution - Missense
MBTPS1ENSG00000140943ENST00000343411p.I331Tc.992T>CSubstitution - Missense
ENST00000268613_v61p.N221Ic.662A>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T8595Nc.25784C>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T8595Nc.25784C>ASubstitution - Missense
ENST00000331986p.T4228Nc.12683C>ASubstitution - Missense
PCSK2ENSG00000125851ENST00000262545p.R81Rc.243C>TSubstitution - coding silent
CD93ENSG00000125810ENST00000246006p.E388Gc.1163A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.K4322Ic.12965A>TSubstitution - Missense
MYT1LENSG00000186487ENST00000399161p.G1011Gc.3033A>TSubstitution - coding silent
ACADLENSG00000115361ENST00000233710p.?c.985-4C>GUnknown
DCAF12L1ENSG00000198889ENST00000371126p.R67Sc.201G>TSubstitution - Missense
DCAF12L1ENSG00000198889ENST00000371126p.G64Ac.191G>CSubstitution - Missense
TENM1ENSG00000009694ENST00000371130p.E1098*c.3292G>TSubstitution - Nonsense
XAB2ENSG00000076924ENST00000358368p.?c.1617+7G>AUnknown
MUC16ENSG00000181143ENST00000397910p.G14342Cc.43024G>TSubstitution - Missense
EVI5LENSG00000142459ENST00000270530p.R262Lc.785G>TSubstitution - Missense
COL4A6ENSG00000197565ENST00000394872p.G631Vc.1892G>TSubstitution - Missense
MAP2K4ENSG00000065559ENST00000353533p.A43Ac.129A>GSubstitution - coding silent
CCDC144AENSG00000170160ENST00000456009p.T863Tc.2589G>ASubstitution - coding silent
ITGB4ENSG00000132470ENST00000200181p.Y526Cc.1577A>GSubstitution - Missense
ITGB4ENSG00000132470ENST00000339591p.Y526Cc.1577A>GSubstitution - Missense
MGAT5BENSG00000167889ENST00000428789p.V739Vc.2217G>TSubstitution - coding silent
MGAT5BENSG00000167889ENST00000301618p.V728Vc.2184G>TSubstitution - coding silent
SRP68ENSG00000167881ENST00000307877p.G15_S16insGGc.45_46insGGCGGCInsertion - In frame
TP53ENSG00000141510ENST00000269305p.R175fs*72c.524delGDeletion - Frameshift
TP53ENSG00000141510ENST00000413465p.R175fs*72c.524delGDeletion - Frameshift
ENST00000414315p.R43fs*>48c.128delGDeletion - Frameshift
ZNF729ENSG00000196350ENST00000357491p.H398Nc.1192C>ASubstitution - Missense
ZNF91ENSG00000167232ENST00000300619p.R1070Ic.3209G>TSubstitution - Missense
CPT1CENSG00000169169ENST00000323446p.E197Kc.589G>ASubstitution - Missense
KLK8ENSG00000129455ENST00000391806p.I149Sc.446T>GSubstitution - Missense
DLGAP4ENSG00000080845ENST00000373913p.E434Kc.1300G>ASubstitution - Missense
TGM2ENSG00000198959ENST00000361475p.R317Lc.950G>TSubstitution - Missense
CCDC136ENSG00000128596ENST00000297788p.R177Wc.529C>TSubstitution - Missense
ENST00000397697p.R177Wc.529C>TSubstitution - Missense
MKLN1ENSG00000128585ENST00000352689p.D417Nc.1249G>ASubstitution - Missense
TEKENSG00000120156ENST00000380036p.?c.901+2T>GUnknown
TEKENSG00000120156ENST00000380036p.?c.901+2T>GUnknown
OR13J1ENSG00000168828ENST00000377981p.A237Ac.711C>TSubstitution - coding silent
FANCGENSG00000221829ENST00000378643p.R155Hc.464G>ASubstitution - Missense
MAGI1ENSG00000151276ENST00000402939p.?c.2702-6C>TUnknown
SPECC1ENSG00000128487ENST00000395527p.G799Dc.2396G>ASubstitution - Missense
SGSM2ENSG00000141258ENST00000268989p.E1032Kc.3094G>ASubstitution - Missense
ENST00000333261p.H52Rc.155A>GSubstitution - Missense
ENST00000411702p.P651Pc.1953G>ASubstitution - coding silent
KEAP1ENSG00000079999ENST00000393623p.P278Ac.832C>GSubstitution - Missense
TGIF1ENSG00000177426ENST00000330513p.H34Pc.101A>CSubstitution - Missense
COL6A2ENSG00000142173ENST00000300527p.R843Qc.2528G>ASubstitution - Missense
FRG2CENSG00000172969ENST00000308062p.P22Ac.64C>GSubstitution - Missense
ENAMENSG00000132464ENST00000396073p.L952Mc.2854C>ASubstitution - Missense
ABCC12ENSG00000140798ENST00000311303p.L588Lc.1764C>ASubstitution - coding silent
CNEP1R1ENSG00000205423ENST00000458059p.H103Hc.309C>TSubstitution - coding silent
SLC12A3ENSG00000070915ENST00000438926p.R243Qc.728G>ASubstitution - Missense
KRTAP9-1ENSG00000240542ENST00000398470p.M1Ic.3G>TSubstitution - Missense
KRTAP4-6ENSG00000198090ENST00000345847p.R106Rc.318T>CSubstitution - coding silent
KRT38ENSG00000171360ENST00000246646p.A130Ac.390G>ASubstitution - coding silent
KRTAP16-1ENSG00000212657ENST00000391352p.R450Hc.1349G>ASubstitution - Missense
FRYENSG00000073910ENST00000380250p.S2451Sc.7353C>TSubstitution - coding silent
SELEENSG00000007908ENST00000333360p.C367*c.1101C>ASubstitution - Nonsense
EPB41ENSG00000159023ENST00000343067p.S152Ic.455G>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000241312p.I2479Tc.7436T>CSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.I2477Tc.7430T>CSubstitution - Missense
ADAMTS8ENSG00000134917ENST00000257359p.L21_P22insLc.39_40insCTGInsertion - In frame
ADAMTS8ENSG00000134917ENST00000257359p.L21_P22insLc.39_40insCTGInsertion - In frame
GLB1L3ENSG00000166105ENST00000431683p.G311Gc.933A>GSubstitution - coding silent
FAM129AENSG00000135842ENST00000367511p.P114Pc.342T>GSubstitution - coding silent
RNASELENSG00000135828ENST00000367559p.S406Fc.1217C>TSubstitution - Missense
ACRBPENSG00000111644ENST00000229243p.E42Ec.126A>GSubstitution - coding silent
CD163L1ENSG00000177675ENST00000313599p.V707Vc.2121C>ASubstitution - coding silent
APOC3ENSG00000110245ENST00000227667p.V97Lc.289G>TSubstitution - Missense
DYNC2H1ENSG00000187240ENST00000398093p.D1376Hc.4126G>CSubstitution - Missense
NM_002426.1p.A157Sc.469G>TSubstitution - Missense
SLC6A5ENSG00000165970ENST00000525748p.E746Dc.2238G>TSubstitution - Missense
KCNA4ENSG00000182255ENST00000328224p.V410Vc.1230C>TSubstitution - coding silent
NTNG1ENSG00000162631ENST00000370068p.L99Mc.295C>ASubstitution - Missense
NTNG1ENSG00000162631ENST00000370074p.L99Mc.295C>ASubstitution - Missense
APIPENSG00000149089ENST00000395787p.?c.58-4T>GUnknown
MAGI3ENSG00000081026ENST00000307546p.E1040Ec.3120G>ASubstitution - coding silent
MAGI3ENSG00000081026ENST00000369615p.E1040Ec.3120G>ASubstitution - coding silent
HMCN1ENSG00000143341ENST00000271588p.V5591Vc.16773G>ASubstitution - coding silent
BRINP3ENSG00000162670ENST00000367462p.L614Pc.1841T>CSubstitution - Missense
ASPMENSG00000066279ENST00000367409p.E273Kc.817G>ASubstitution - Missense
ENST00000338282p.M1654Tc.4961T>CSubstitution - Missense
XYLT1ENSG00000103489ENST00000261381p.D494Hc.1480G>CSubstitution - Missense
ACSM2BENSG00000066813ENST00000329697p.?c.1099-4A>GUnknown
SIPA1L1ENSG00000197555ENST00000555818p.A1479Tc.4435G>ASubstitution - Missense
FAM174BENSG00000185442ENST00000327355p.S69_S70delSSc.206_219>ACAGCAGCDeletion - In frame
NGRNENSG00000182768ENST00000379095p.A87Ac.261C>ASubstitution - coding silent
ENST00000331497p.A15Ac.45C>ASubstitution - coding silent
AKR1C3ENSG00000196139ENST00000380554p.R96Qc.287G>ASubstitution - Missense
OIT3ENSG00000138315ENST00000334011p.G126Vc.377G>TSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.R1702Cc.5104C>TSubstitution - Missense
PRKAB1ENSG00000111725ENST00000229328p.?c.735+6G>TUnknown
AMPD1ENSG00000116748ENST00000520113p.R480Cc.1438C>TSubstitution - Missense
XM_052561.7p.A1155Ac.3465C>TSubstitution - coding silent
SYCP1ENSG00000198765ENST00000369518p.Q452Pc.1355A>CSubstitution - Missense
HMGCS2ENSG00000134240ENST00000369406p.A58Tc.172G>ASubstitution - Missense
CREG1ENSG00000143162ENST00000370509p.K158Kc.474G>ASubstitution - coding silent
ENST00000401058p.S187Fc.560C>TSubstitution - Missense
NID2ENSG00000087303ENST00000216286p.V1088Ac.3263T>CSubstitution - Missense
PPFIBP1ENSG00000110841ENST00000318304p.L728Lc.2184G>ASubstitution - coding silent
PPFIBP1ENSG00000110841ENST00000228425p.L722Lc.2166G>ASubstitution - coding silent
KIAA1551ENSG00000174718ENST00000312561p.D1409Gc.4226A>GSubstitution - Missense
BICD1ENSG00000151746ENST00000281474p.I674Vc.2020A>GSubstitution - Missense
FLG2ENSG00000143520ENST00000388718p.Q1201Kc.3601C>ASubstitution - Missense
PARP11ENSG00000111224ENST00000228820p.I253Sc.758T>GSubstitution - Missense
NPR1ENSG00000169418ENST00000368680p.I1014Tc.3041T>CSubstitution - Missense
PKP1ENSG00000081277ENST00000263946p.L604Lc.1810C>TSubstitution - coding silent
CHIT1ENSG00000133063ENST00000367229p.V322fs*4c.965_993del29Deletion - Frameshift
PPP1R15BENSG00000158615ENST00000367188p.E539Kc.1615G>ASubstitution - Missense
PCF11ENSG00000165494ENST00000298281p.N300Ic.899A>TSubstitution - Missense
PCF11ENSG00000165494ENST00000298281p.N399Ic.1196A>TSubstitution - Missense
GSG1ENSG00000111305ENST00000432710p.L326Lc.978G>ASubstitution - coding silent
OR2L3ENSG00000198128ENST00000359959p.A37Vc.110C>TSubstitution - Missense
OR2M7ENSG00000177186ENST00000317965p.I280Ic.840C>ASubstitution - coding silent
SESN2ENSG00000130766ENST00000253063p.P153Pc.459C>TSubstitution - coding silent
PIGVENSG00000060642ENST00000374145p.D371Gc.1112A>GSubstitution - Missense
NPHP4ENSG00000131697ENST00000378156p.L287Lc.861G>ASubstitution - coding silent
CLCA2ENSG00000137975ENST00000370565p.?c.2156-7G>TUnknown
COL24A1ENSG00000171502ENST00000370571p.?c.4167+1G>AUnknown
KTN1ENSG00000126777ENST00000416613p.?c.2565+3A>GUnknown
RB1ENSG00000139687ENST00000267163p.Y321*c.963C>ASubstitution - Nonsense
ITGA4ENSG00000115232ENST00000397033p.G490*c.1468G>TSubstitution - Nonsense
B2MENSG00000166710ENST00000558401p.L15fs*41c.37_38delCTDeletion - Frameshift
ASH1LENSG00000116539ENST00000392403p.R2841Hc.8522G>ASubstitution - Missense
PTPRUENSG00000060656ENST00000345512p.A578Ac.1734G>ASubstitution - coding silent
ATRNENSG00000088812ENST00000262919p.E692*c.2074G>TSubstitution - Nonsense
ZNF99ENSG00000213973ENST00000397104p.G676Vc.2027G>TSubstitution - Missense
FBXO24ENSG00000106336ENST00000241071p.P209Pc.627G>ASubstitution - coding silent
PCDHB13ENSG00000187372ENST00000341948p.S534Tc.1600T>ASubstitution - Missense
TMEM35ENSG00000126950ENST00000372930p.R65*c.193C>TSubstitution - Nonsense
CD34ENSG00000174059ENST00000367036p.?c.333+8C>GUnknown
SRGAP2ENSG00000163486ENST00000414007p.V464Vc.1392C>ASubstitution - coding silent
CD34ENSG00000174059ENST00000310833p.?c.807+8C>GUnknown
HOXC8ENSG00000037965ENST00000040584p.R27Gc.79C>GSubstitution - Missense
RFX4ENSG00000111783ENST00000229387p.R400Qc.1199G>ASubstitution - Missense
SCELENSG00000136155ENST00000349847p.N481Kc.1443C>ASubstitution - Missense
AF395440.1p.Q13Hc.39G>CSubstitution - Missense
KIF1BENSG00000054523ENST00000377093p.R1048Cc.3142C>TSubstitution - Missense
COL11A1ENSG00000060718ENST00000370096p.S193Nc.578G>ASubstitution - Missense
EPRSENSG00000136628ENST00000366923p.*1513*c.4538G>ASubstitution - coding silent
BPNT1ENSG00000162813ENST00000322067p.?c.225+7G>AUnknown
ZDHHC16ENSG00000171307ENST00000393760p.L281Pc.842T>CSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.?c.3971-3C>GUnknown
ENST00000349637p.?c.3980-3C>GUnknown
ENST00000278934p.I637Ic.1911C>ASubstitution - coding silent
PATE1ENSG00000171053ENST00000305738p.?c.52+9C>GUnknown
PRR5LENSG00000135362ENST00000378867p.?c.352+6T>AUnknown
ETV3ENSG00000117036ENST00000368192p.S287Nc.860G>ASubstitution - Missense
OR10T2ENSG00000186306ENST00000334438p.G234Ac.701G>CSubstitution - Missense
PYHIN1ENSG00000163564ENST00000368135p.A194Ec.581C>ASubstitution - Missense
NCAPD2ENSG00000010292ENST00000315579p.E164Kc.490G>ASubstitution - Missense
RASSF9ENSG00000198774ENST00000361228p.P153Lc.458C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.S8476Lc.25427C>TSubstitution - Missense
SU_OBSCN.1p.S8346Lc.25037C>TSubstitution - Missense
TFCP2ENSG00000135457ENST00000257915p.N323Kc.969C>GSubstitution - Missense
KRT83ENSG00000170523ENST00000293670p.V447Mc.1339G>ASubstitution - Missense
BNC1ENSG00000169594ENST00000345382p.E650Kc.1948G>ASubstitution - Missense
AP3B2ENSG00000103723ENST00000261722p.Q639fs*137c.1915delCDeletion - Frameshift
GOLGA6L10ENSG00000205281ENST00000439287p.N471Sc.1412A>GSubstitution - Missense
ADAM12ENSG00000148848ENST00000368679p.H665Rc.1994A>GSubstitution - Missense
ADAM12ENSG00000148848ENST00000368676p.H665Rc.1994A>GSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.D2782Dc.8346C>TSubstitution - coding silent
TEP1ENSG00000129566ENST00000262715p.T1608Sc.4823C>GSubstitution - Missense
HOMEZENSG00000215271ENST00000357460p.M80Tc.239T>CSubstitution - Missense
DHRS2ENSG00000100867ENST00000250383p.?c.731+4A>GUnknown
CTSGENSG00000100448ENST00000216336p.M251Tc.752T>CSubstitution - Missense
OR52E4ENSG00000180974ENST00000316987p.G85Ec.254G>ASubstitution - Missense
OR52E6ENSG00000205409ENST00000379946p.K96Kc.288G>ASubstitution - coding silent
OR52E6ENSG00000205409ENST00000329322p.K92Kc.276G>ASubstitution - coding silent
OR56B3PENSG00000180913ENST00000316517p.I101Ic.303C>TSubstitution - coding silent
SLC15A3ENSG00000110446ENST00000227880p.S205Rc.615C>GSubstitution - Missense
AMDHD1ENSG00000139344ENST00000266736p.S242Cc.725C>GSubstitution - Missense
PZPENSG00000126838ENST00000261336p.A521Ac.1563C>TSubstitution - coding silent
PZPENSG00000126838ENST00000381997p.A390Ac.1170C>TSubstitution - coding silent
IKBIPENSG00000166130ENST00000299157p.D234Hc.700G>CSubstitution - Missense
ZP4ENSG00000116996ENST00000366570p.?c.176-10A>CUnknown
TRUB1ENSG00000165832ENST00000298746p.L199fs*5c.596delTDeletion - Frameshift
ADAMTS20ENSG00000173157ENST00000389420p.C1615fs*18c.4844delGDeletion - Frameshift
ADAMTS20ENSG00000173157ENST00000389420p.C1615fs*18c.4844delGDeletion - Frameshift
PDZRN4ENSG00000165966ENST00000539469p.Q204Ec.610C>GSubstitution - Missense
CNTN1ENSG00000018236ENST00000551295p.A410Ac.1230G>TSubstitution - coding silent
PCED1BENSG00000179715ENST00000546455p.G73Dc.218G>ASubstitution - Missense
PDS5BENSG00000083642ENST00000315596p.R581Hc.1742G>ASubstitution - Missense


COSMIC

1 mutations reported
1 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
CDKN2AENSG00000147889ENST00000304494p.?c.1_457del457Unknown7563154