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CAPAN-1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

606 mutations reported
187 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
BPIFB3ENSG00000186190ENST00000375494p.K355Kc.1065G>ASubstitution - coding silent
LTN1ENSG00000198862ENST00000361371p.W735Cc.2205G>CSubstitution - Missense
COL6A2ENSG00000142173ENST00000300527p.L694Fc.2080C>TSubstitution - Missense
NM_058004.1p.P1071Pc.3213G>TSubstitution - coding silent
SLC35E4ENSG00000100036ENST00000343605p.L290Ic.868C>ASubstitution - Missense
SREBF2ENSG00000198911ENST00000361204p.G595Sc.1783G>ASubstitution - Missense
NM_000828.2p.L23*c.68T>ASubstitution - Nonsense
SAGE1ENSG00000181433ENST00000324447p.D826Ac.2477A>CSubstitution - Missense
BRS3ENSG00000102239ENST00000370648p.R352Qc.1055G>ASubstitution - Missense
NM_017449p.A892fs*57c.2670delCDeletion - Frameshift
SCN10AENSG00000185313ENST00000449082p.Y1677fs*21c.5028delCDeletion - Frameshift
TAS1R2ENSG00000179002ENST00000375371p.R707Cc.2119C>TSubstitution - Missense
KIF17ENSG00000117245ENST00000247986p.V79Ic.235G>ASubstitution - Missense
BAI2ENSG00000121753ENST00000373658p.K680Kc.2040G>ASubstitution - coding silent
STILENSG00000123473ENST00000337817p.L1096Fc.3286C>TSubstitution - Missense
GLMNENSG00000174842ENST00000370360p.F255Fc.765C>TSubstitution - coding silent
SHEENSG00000169291ENST00000304760p.H397Yc.1189C>TSubstitution - Missense
DARS2ENSG00000117593ENST00000361951p.?c.492+2T>CUnknown
USH2AENSG00000042781ENST00000307340p.S2251Lc.6752C>TSubstitution - Missense
GTF3C2ENSG00000115207ENST00000264720p.?c.1877+9T>AUnknown
ALMS1ENSG00000116127ENST00000264448p.T376Sc.1127C>GSubstitution - Missense
NM_006343p.E831Qc.2491G>CSubstitution - Missense
PDE1AENSG00000115252ENST00000435564p.G392Ec.1175G>ASubstitution - Missense
CPS1ENSG00000021826ENST00000233072p.C648Rc.1942T>CSubstitution - Missense
CNTN4ENSG00000144619ENST00000418658p.P900Sc.2698C>TSubstitution - Missense
CNTN4ENSG00000144619ENST00000397459p.P572Sc.1714C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.A159Vc.476C>TSubstitution - Missense
ENST00000545858p.A66Vc.197C>TSubstitution - Missense
AMER3ENSG00000178171ENST00000321420p.R197Qc.590G>ASubstitution - Missense
KRASENSG00000133703ENST00000311936p.G12Vc.35G>TSubstitution - Missense
SHMT2ENSG00000182199ENST00000328923p.T212Tc.636T>CSubstitution - coding silent
ALX4ENSG00000052850ENST00000329255p.T362Mc.1085C>TSubstitution - Missense
OR52K2ENSG00000181963ENST00000325719p.C99Sc.295T>ASubstitution - Missense
MYOZ1ENSG00000177791ENST00000359322p.P291Sc.871C>TSubstitution - Missense
MYCBP2ENSG00000005810ENST00000357337p.?c.2413+9G>CUnknown
MYCBP2ENSG00000005810ENST00000407578p.?c.2527+9G>CUnknown
HTR2AENSG00000102468ENST00000378688p.?c.613+7G>CUnknown
LMAN1LENSG00000140506ENST00000309664p.L202Fc.606G>TSubstitution - Missense
SCAMP5ENSG00000198794ENST00000425597p.L43Lc.129C>TSubstitution - coding silent
RALGAPA1ENSG00000174373ENST00000389698p.V672Ic.2014G>ASubstitution - Missense
CCDC116ENSG00000161180ENST00000292779p.F453Fc.1359C>TSubstitution - coding silent
ZNF716ENSG00000182111ENST00000420713p.E81Dc.243G>TSubstitution - Missense
XCR1ENSG00000173578ENST00000309285p.A156Tc.466G>ASubstitution - Missense
SIDT1ENSG00000072858ENST00000264852p.?c.1263+5C>TUnknown
ZFYVE28ENSG00000159733ENST00000290974p.P259Sc.775C>TSubstitution - Missense
FRYLENSG00000075539ENST00000503238p.S304Sc.912C>TSubstitution - coding silent
DCLK2ENSG00000170390ENST00000302176p.S705Sc.2115C>TSubstitution - coding silent
FAM149AENSG00000109794ENST00000503432p.?c.1376-2A>TUnknown
IL7RENSG00000168685ENST00000303115p.I121Ic.363A>TSubstitution - coding silent
CD109ENSG00000156535ENST00000287097p.S883Sc.2649A>GSubstitution - coding silent
PGM3ENSG00000013375ENST00000513973p.?c.1243-3C>TUnknown
GPRC6AENSG00000173612ENST00000310357p.C375Yc.1124G>ASubstitution - Missense
TBC1D32ENSG00000146350ENST00000398212p.P342Pc.1026G>CSubstitution - coding silent
GRM1ENSG00000152822ENST00000282753p.Y486*c.1458C>ASubstitution - Nonsense
GRM1ENSG00000152822ENST00000392299p.Y486*c.1458C>ASubstitution - Nonsense
POLR2JENSG00000005075ENST00000292614p.K112Ec.334A>GSubstitution - Missense
CPA5ENSG00000158525ENST00000393213p.P301Lc.902C>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.R1615Mc.4844G>TSubstitution - Missense
POMKENSG00000185900ENST00000331373p.C244Cc.732C>TSubstitution - coding silent
ADHFE1ENSG00000147576ENST00000396623p.I289Ic.867C>TSubstitution - coding silent
NM_144650.1p.I241Ic.723C>TSubstitution - coding silent
C9orf3ENSG00000148120ENST00000375315p.E93Kc.277G>ASubstitution - Missense
C9orf3ENSG00000148120ENST00000297979p.E93Kc.277G>ASubstitution - Missense
TTC16ENSG00000167094ENST00000373289p.P26Ac.76C>GSubstitution - Missense
GLT6D1ENSG00000204007ENST00000371763p.W198*c.593G>ASubstitution - Nonsense
KCNT1ENSG00000107147ENST00000298480p.Q543Rc.1628A>GSubstitution - Missense
NEBLENSG00000078114ENST00000377122p.T891Tc.2673A>GSubstitution - coding silent
MLLT10ENSG00000078403ENST00000307729p.G33Gc.99C>TSubstitution - coding silent
WBP1LENSG00000166272ENST00000369889p.I174Ic.522C>TSubstitution - coding silent
ACCSLENSG00000205126ENST00000378832p.S54Sc.162G>CSubstitution - coding silent
SERPING1ENSG00000149131ENST00000278407p.V250Dc.749T>ASubstitution - Missense
HINFPENSG00000172273ENST00000350777p.D351Dc.1053C>TSubstitution - coding silent
TRIM29ENSG00000137699ENST00000341846p.P487Pc.1461C>TSubstitution - coding silent
OR8B12ENSG00000170953ENST00000306842p.C71Gc.211T>GSubstitution - Missense
ENST00000251757p.T12Tc.36C>ASubstitution - coding silent
OLR1ENSG00000173391ENST00000309539p.V50Ic.148G>ASubstitution - Missense
DNAJC22ENSG00000178401ENST00000549441p.G287Wc.859G>TSubstitution - Missense
FZD10ENSG00000111432ENST00000229030p.N54Kc.162C>ASubstitution - Missense
USPL1ENSG00000132952ENST00000255304p.N454Kc.1362T>GSubstitution - Missense
FRYENSG00000073910ENST00000380250p.E639Qc.1915G>CSubstitution - Missense
FSCBENSG00000189139ENST00000340446p.S5Sc.15C>ASubstitution - coding silent
NINENSG00000100503ENST00000382041p.N1883Sc.5648A>GSubstitution - Missense
SERPINA10ENSG00000140093ENST00000393096p.G215Gc.645G>ASubstitution - coding silent
CDAN1ENSG00000140326ENST00000356231p.D232Dc.696C>TSubstitution - coding silent
FBXO22ENSG00000167196ENST00000308275p.K229Ec.685A>GSubstitution - Missense
CERS3ENSG00000154227ENST00000284382p.R370Mc.1109G>TSubstitution - Missense
TRAPPC2LENSG00000167515ENST00000301021p.S44Sc.132C>TSubstitution - coding silent
YWHAEENSG00000108953ENST00000264335p.E251Ac.752A>CSubstitution - Missense
LIG3ENSG00000005156ENST00000378526p.P366Pc.1098A>GSubstitution - coding silent
GGNBP2ENSG00000005955ENST00000304718p.T613Tc.1839G>ASubstitution - coding silent
ABCA8ENSG00000141338ENST00000269080p.E122Kc.364G>ASubstitution - Missense
ABCA5ENSG00000154265ENST00000392676p.I1165Lc.3493A>CSubstitution - Missense
LLGL2ENSG00000073350ENST00000392550p.P373Lc.1118C>TSubstitution - Missense
STXBP2ENSG00000076944ENST00000221283p.Q250Hc.750G>CSubstitution - Missense
SHANK1ENSG00000161681ENST00000293441p.D372Hc.1114G>CSubstitution - Missense
EVPLENSG00000167880ENST00000301607p.T1784Sc.5351C>GSubstitution - Missense
ENST00000255403p.?c.1_4delATGAUnknown
GRIA3ENSG00000125675ENST00000371256p.L23*c.68T>ASubstitution - Nonsense
MYO1BENSG00000128641ENST00000392318p.?c.580_661+280>16Unknown
MYO1BENSG00000128641ENST00000339514p.?c.580_661+280>16Unknown
GULP1ENSG00000144366ENST00000359135p.?c.609+3G>AUnknown
PDE1AENSG00000115252ENST00000456212p.G392Ec.1175G>ASubstitution - Missense
PDE1AENSG00000115252ENST00000346717p.G358Ec.1073G>ASubstitution - Missense
OR7G1ENSG00000161807ENST00000293614p.A272Sc.814G>TSubstitution - Missense
ABI3ENSG00000108798ENST00000225941p.R84Wc.250C>TSubstitution - Missense
MRPL10ENSG00000159111ENST00000351111p.G179Sc.535G>ASubstitution - Missense
RBFOX1ENSG00000078328ENST00000550418p.P24Sc.70C>TSubstitution - Missense
NADK2ENSG00000152620ENST00000397338p.?c.71+9G>TUnknown
NIPBLENSG00000164190ENST00000448238p.?c.6109-38_6250-39del289Unknown
LRRC7ENSG00000033122ENST00000035383p.?c.4507-3C>AUnknown
ATAD3CENSG00000215915ENST00000378785p.G266fs*9c.795delGDeletion - Frameshift
TMEM132DENSG00000151952ENST00000422113p.V670Ac.2009T>CSubstitution - Missense
HDCENSG00000140287ENST00000267845p.T344Ac.1030A>GSubstitution - Missense
GON4LENSG00000116580ENST00000437809p.S1876Sc.5628C>TSubstitution - coding silent
GON4LENSG00000116580ENST00000437809p.S1876Sc.5628C>TSubstitution - coding silent
GON4LENSG00000116580ENST00000437809p.S1876Nc.5627G>ASubstitution - Missense
MIS18BP1ENSG00000129534ENST00000310806p.?c.544+3T>AUnknown
MIS18BP1ENSG00000129534ENST00000310806p.?c.544+2_544+3insAAGAGGTUnknown
DHCR24ENSG00000116133ENST00000371269p.G428Rc.1282G>ASubstitution - Missense
HECTD1ENSG00000092148ENST00000399332p.L1143Lc.3429C>TSubstitution - coding silent
FBN1ENSG00000166147ENST00000316623p.L1694Fc.5082G>TSubstitution - Missense
PXNENSG00000089159ENST00000228307p.L338Lc.1012C>TSubstitution - coding silent
PXNENSG00000089159ENST00000397506p.L150Lc.448C>TSubstitution - coding silent
VPS26AENSG00000122958ENST00000373382p.I122Fc.364A>TSubstitution - Missense
SLC9A3ENSG00000066230ENST00000264938p.I123Ic.369C>TSubstitution - coding silent
ADAM21ENSG00000139985ENST00000267499p.V74delVc.217_219delGTTDeletion - In frame
ADAM21ENSG00000139985ENST00000267499p.V74delVc.217_219delGTTDeletion - In frame
YME1L1ENSG00000136758ENST00000326799p.G384Gc.1152A>CSubstitution - coding silent
RDH11ENSG00000072042ENST00000381346p.W248Cc.744G>CSubstitution - Missense
ENST00000377072_v68p.G33Gc.99C>TSubstitution - coding silent
STXBP3ENSG00000116266ENST00000370008p.D202Hc.604G>CSubstitution - Missense
HIPK3ENSG00000110422ENST00000303296p.H801Lc.2402A>TSubstitution - Missense
MUC2ENSG00000198788ENST00000441003p.A2748Ac.8244C>ASubstitution - coding silent
PRMT3ENSG00000185238ENST00000331079p.R180Hc.539G>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.A1637Pc.4909G>CSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.A1637Pc.4909G>CSubstitution - Missense
CCT2ENSG00000166226ENST00000299300p.N227Tc.680A>CSubstitution - Missense
MOB2ENSG00000182208ENST00000329957p.E267Dc.801G>CSubstitution - Missense
ENST00000373082p.Q304Qc.912G>ASubstitution - coding silent
RABGAP1LENSG00000152061ENST00000357444p.T541Kc.1622C>ASubstitution - Missense
MTUS2ENSG00000132938ENST00000431530p.P494Rc.1481C>GSubstitution - Missense
SFXN2ENSG00000156398ENST00000369893p.G56Vc.167G>TSubstitution - Missense
AHCTF1ENSG00000153207ENST00000391829p.D26Vc.77A>TSubstitution - Missense
IFNLR1ENSG00000185436ENST00000327535p.P416Pc.1248G>ASubstitution - coding silent
HNRNPUENSG00000153187ENST00000283179p.P678Sc.2032C>TSubstitution - Missense
HNRNPUENSG00000153187ENST00000444376p.P659Sc.1975C>TSubstitution - Missense
SPTBN2ENSG00000173898ENST00000309996p.E1048Gc.3143A>GSubstitution - Missense
MYH7ENSG00000092054ENST00000355349p.E774Ec.2322G>ASubstitution - coding silent
SLC22A17ENSG00000092096ENST00000206544p.G153Gc.459C>TSubstitution - coding silent
TTC40ENSG00000171811ENST00000368586p.E1634Ac.4901A>CSubstitution - Missense
OPTNENSG00000123240ENST00000263036p.E516Qc.1546G>CSubstitution - Missense
XM_290527.3p.A730Sc.2188G>TSubstitution - Missense
SERPINH1ENSG00000149257ENST00000533603p.R116Cc.346C>TSubstitution - Missense
INPPL1ENSG00000165458ENST00000298229p.L343Lc.1029G>ASubstitution - coding silent
HOMER2ENSG00000103942ENST00000304231p.D353Gc.1058A>GSubstitution - Missense
BNC1ENSG00000169594ENST00000345382p.L508Fc.1522C>TSubstitution - Missense
ZNF84ENSG00000198040ENST00000392319p.H91Hc.273C>TSubstitution - coding silent
EPHB2ENSG00000133216ENST00000374627p.A887fs*57c.2655delCDeletion - Frameshift
SRPK1ENSG00000096063ENST00000373822p.S134Fc.401C>TSubstitution - Missense
NBEAL2ENSG00000160796ENST00000292309p.E396Ec.1188G>ASubstitution - coding silent
RAB1AENSG00000138069ENST00000409784p.Q193Hc.579G>CSubstitution - Missense
SU_SK681p.E548Dc.1644A>CSubstitution - Missense
GSAPENSG00000186088ENST00000257626p.E728_A730delETAc.2183_2191delAAACAGCTGDeletion - In frame
CDH9ENSG00000113100ENST00000231021p.E213fs*1c.636_637insTInsertion - Frameshift
NAA15ENSG00000164134ENST00000296543p.E655Ec.1965A>GSubstitution - coding silent
FAM194AENSG00000163645ENST00000295910p.S131Sc.393C>GSubstitution - coding silent
SLC6A6ENSG00000131389ENST00000360861p.L515Vc.1543C>GSubstitution - Missense
NM_003584.1p.H242Rc.725A>GSubstitution - Missense
AGRPENSG00000159723ENST00000290953p.T18Rc.53C>GSubstitution - Missense
CNOT1ENSG00000125107ENST00000317147p.L1177Lc.3531G>CSubstitution - coding silent
LIMS1ENSG00000169756ENST00000393314p.T117Tc.351A>GSubstitution - coding silent
LLGL2ENSG00000073350ENST00000167462p.P373Lc.1118C>TSubstitution - Missense
ZNF135ENSG00000176293ENST00000401053p.G486Ec.1457G>ASubstitution - Missense
NLRP13ENSG00000173572ENST00000342929p.L412Ic.1234C>ASubstitution - Missense
BCORENSG00000183337ENST00000378444p.T936Nc.2807C>ASubstitution - Missense
BRF2ENSG00000104221ENST00000220659p.G328Gc.984G>ASubstitution - coding silent
EPHA6ENSG00000080224ENST00000389672p.I1067Tc.3200T>CSubstitution - Missense
MFI2ENSG00000163975ENST00000296350p.L701Lc.2103G>ASubstitution - coding silent
RASGRP3ENSG00000152689ENST00000403687p.V579Vc.1737C>ASubstitution - coding silent
TPD52L2ENSG00000101150ENST00000217121p.N117Nc.351T>CSubstitution - coding silent
LILRA3ENSG00000170866ENST00000251390p.A324fs*7c.970_1132del163Deletion - Frameshift
ZNF845ENSG00000213799ENST00000458035p.H80Nc.238C>ASubstitution - Missense
FBXO31ENSG00000103264ENST00000311635p.L124Vc.370C>GSubstitution - Missense
ASXL2ENSG00000143970ENST00000435504p.E1098Ec.3294A>GSubstitution - coding silent
AQP12BENSG00000185176ENST00000407834p.G48Gc.144G>CSubstitution - coding silent
CDK15ENSG00000138395ENST00000410091p.R13Cc.37C>TSubstitution - Missense
ANKRD44ENSG00000065413ENST00000282272p.G739fs*8c.2214_2236del23Deletion - Frameshift
ANKRD44ENSG00000065413ENST00000424317p.G562fs*8c.1683_1705del23Deletion - Frameshift
PLCL1ENSG00000115896ENST00000428675p.A1044Dc.3131C>ASubstitution - Missense
ENST00000356127p.R12857Sc.38571A>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.R6552Sc.19656A>TSubstitution - Missense
NM_003319p.R6360Sc.19080A>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.T15717Ac.47149A>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.T9345Ac.28033A>GSubstitution - Missense
ENST00000356127p.T15717Ac.47149A>GSubstitution - Missense
TTC30BENSG00000196659ENST00000408939p.E516Qc.1546G>CSubstitution - Missense
GNB1LENSG00000185838ENST00000329517p.R37Rc.111C>ASubstitution - coding silent
FRG1BENSG00000149531ENST00000278882p.I126Vc.376A>GSubstitution - Missense
ARHGEF15ENSG00000198844ENST00000361926p.R597Hc.1790G>ASubstitution - Missense
PIEZO2ENSG00000154864ENST00000285141p.D447Ec.1341C>ASubstitution - Missense
PIEZO2ENSG00000154864ENST00000302079p.D2655Ec.7965C>ASubstitution - Missense
NM_007332.1p.A316Vc.947C>TSubstitution - Missense
PCM1ENSG00000078674ENST00000325083p.L283Lc.847T>CSubstitution - coding silent
KIFC2ENSG00000167702ENST00000301332p.E162Kc.484G>ASubstitution - Missense
PLECENSG00000178209ENST00000322810p.G4464Sc.13390G>ASubstitution - Missense
PLECENSG00000178209ENST00000345136p.G4327Sc.12979G>ASubstitution - Missense
MST1RENSG00000164078ENST00000296474p.Q193fs*20c.576_610del35Deletion - Frameshift
ATP8A1ENSG00000124406ENST00000381668p.I114Vc.340A>GSubstitution - Missense
CHODLENSG00000154645ENST00000338326p.D212Ac.635A>CSubstitution - Missense
KRT12ENSG00000187242ENST00000251643p.L146Vc.436C>GSubstitution - Missense
TADA2BENSG00000173011ENST00000310074p.E176Gc.527A>GSubstitution - Missense
PROM2ENSG00000155066ENST00000317668p.Q75Qc.225G>ASubstitution - coding silent
ATOH8ENSG00000168874ENST00000306279p.S177Cc.530C>GSubstitution - Missense
ANKRD29ENSG00000154065ENST00000322980p.R299Tc.896G>CSubstitution - Missense
PCYT2ENSG00000185813ENST00000538936p.R184Qc.551G>ASubstitution - Missense
EFCAB5ENSG00000176927ENST00000394835p.M1287Lc.3859A>TSubstitution - Missense
MAP2K3ENSG00000034152ENST00000316920p.A315fs*4c.939delCDeletion - Frameshift
ANP32BENSG00000136938ENST00000339399p.D181Hc.541G>CSubstitution - Missense
TP53INP1ENSG00000164938ENST00000342697p.L85Hc.254T>ASubstitution - Missense
TP53INP1ENSG00000164938ENST00000378776p.L85Hc.254T>ASubstitution - Missense
SIGLEC1ENSG00000088827ENST00000344754p.E1677Qc.5029G>CSubstitution - Missense
DLGAP4ENSG00000080845ENST00000373913p.I517Mc.1551C>GSubstitution - Missense
TCP11ENSG00000124678ENST00000311875p.N311Kc.933C>ASubstitution - Missense
TCP11ENSG00000124678ENST00000373979p.N236Kc.708C>ASubstitution - Missense
MSH5ENSG00000204410ENST00000375742p.K802Nc.2406G>TSubstitution - Missense
ENST00000491552p.K141Nc.423G>TSubstitution - Missense
STK10ENSG00000072786ENST00000176763p.P480Sc.1438C>TSubstitution - Missense
DOCK2ENSG00000134516ENST00000256935p.V353Vc.1059T>GSubstitution - coding silent
CLDN1ENSG00000163347ENST00000295522p.E147Dc.441A>CSubstitution - Missense
EPHB3ENSG00000182580ENST00000330394p.T711Tc.2133T>CSubstitution - coding silent
DPM2ENSG00000136908ENST00000314392p.I34Ic.102C>TSubstitution - coding silent
GOLGA2ENSG00000167110ENST00000421699p.A747Ac.2241C>TSubstitution - coding silent
PTP4A3ENSG00000184489ENST00000521578p.A2_M4delARMc.1_9delATGGCTCGGDeletion - In frame
COL27A1ENSG00000196739ENST00000356083p.G877Gc.2631G>TSubstitution - coding silent
AHRENSG00000106546ENST00000242057p.E580Dc.1740A>TSubstitution - Missense
UBA6ENSG00000033178ENST00000322244p.I266Mc.798A>GSubstitution - Missense
ZNF574ENSG00000105732ENST00000359044p.F645Fc.1935C>TSubstitution - coding silent
HAUS8ENSG00000131351ENST00000253669p.C182Fc.545G>TSubstitution - Missense
AKAP8ENSG00000105127ENST00000269701p.P213Pc.639C>TSubstitution - coding silent
CYP4F22ENSG00000171954ENST00000269703p.D150_R154>Ec.450_461del12Complex - deletion inframe
NPIPB5ENSG00000243716ENST00000424340p.Q392_A400>LLTPLc.1175_1199>13Complex - deletion inframe
NPIPB5ENSG00000243716ENST00000424340p.Q392_A400>LLTPLc.1175_1199>13Complex - deletion inframe
XM_496125.1p.G560Vc.1679G>TSubstitution - Missense
ENST00000335106p.A1543Tc.4627G>ASubstitution - Missense
SEPT14ENSG00000154997ENST00000388975p.D423Ec.1269T>ASubstitution - Missense
ENST00000331340_v65p.S499Sc.1497C>TSubstitution - coding silent
AGAP3ENSG00000133612ENST00000397238p.D180Hc.538G>CSubstitution - Missense
AGAP3ENSG00000133612ENST00000473312p.D180Hc.538G>CSubstitution - Missense
CFTRENSG00000001626ENST00000003084p.?c.3963+5G>AUnknown
KMT2EENSG00000005483ENST00000257745p.L1518_Q1526delLFTQTPSGQc.4551_4577del27Deletion - In frame
DNAH5ENSG00000039139ENST00000265104p.E3724Dc.11172A>TSubstitution - Missense
CCDC129ENSG00000180347ENST00000407970p.E885Qc.2653G>CSubstitution - Missense
CCDC129ENSG00000180347ENST00000319386p.E737Qc.2209G>CSubstitution - Missense
NCCRP1ENSG00000188505ENST00000339852p.P256Rc.767C>GSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.L1358Lc.4074G>ASubstitution - coding silent
AGTPBP1ENSG00000135049ENST00000376083p.S452Ac.1354T>GSubstitution - Missense
AGTPBP1ENSG00000135049ENST00000357081p.S492Ac.1474T>GSubstitution - Missense
GNA14ENSG00000156049ENST00000341700p.?c.465-5T>CUnknown
TRPM6ENSG00000119121ENST00000451710p.V1228Fc.3682G>TSubstitution - Missense
REXO4ENSG00000148300ENST00000371942p.A202Vc.605C>TSubstitution - Missense
ADAMTS13ENSG00000160323ENST00000371929p.G1222Ac.3665G>CSubstitution - Missense
BRD3ENSG00000169925ENST00000303407p.A429Ac.1287G>ASubstitution - coding silent
CCDC39ENSG00000145075ENST00000442201p.R629Rc.1887C>TSubstitution - coding silent
SEC62ENSG00000008952ENST00000337002p.G288Ec.863G>ASubstitution - Missense
PSMD8ENSG00000099341ENST00000215071p.R158Hc.473G>ASubstitution - Missense
ENST00000404323p.R65Hc.194G>ASubstitution - Missense
LIN37ENSG00000267796ENST00000301159p.T51Ic.152C>TSubstitution - Missense
NME1ENSG00000239672ENST00000336097p.P84Ac.250C>GSubstitution - Missense
THEMISENSG00000172673ENST00000543064p.L449Pc.1346T>CSubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.R2231Hc.6692G>ASubstitution - Missense
FAM184AENSG00000111879ENST00000338891p.V337Gc.1010T>GSubstitution - Missense
MSANTD3ENSG00000066697ENST00000395067p.E75Qc.223G>CSubstitution - Missense
MSANTD3ENSG00000066697ENST00000374885p.E75Qc.223G>CSubstitution - Missense
MSANTD3ENSG00000066697ENST00000374885p.E75Vc.224A>TSubstitution - Missense
DDOENSG00000203797ENST00000368924p.F160fs*5c.478_487del10Deletion - Frameshift
KLHL4ENSG00000102271ENST00000373114p.T242Rc.725C>GSubstitution - Missense
KLHL4ENSG00000102271ENST00000373119p.T242Rc.725C>GSubstitution - Missense
ZC3H4ENSG00000130749ENST00000253048p.L1008Lc.3022C>TSubstitution - coding silent
CRTC1ENSG00000105662ENST00000321949p.P79Pc.237C>TSubstitution - coding silent
GATAD2AENSG00000167491ENST00000360315p.A526Sc.1576G>TSubstitution - Missense
GATAD2AENSG00000167491ENST00000360315p.A383Sc.1147G>TSubstitution - Missense
REXO1ENSG00000079313ENST00000170168p.R1000Wc.2998C>TSubstitution - Missense
NSMFENSG00000165802ENST00000371482p.E56Vc.167A>TSubstitution - Missense
LRWD1ENSG00000161036ENST00000292616p.F152fs*11c.450_474del25Deletion - Frameshift
DNAH8ENSG00000124721ENST00000359357p.F2494Vc.7480T>GSubstitution - Missense
SRPK1ENSG00000096063ENST00000373825p.S241Fc.722C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.R12857Sc.38571A>TSubstitution - Missense
HCN2ENSG00000099822ENST00000251287p.?c.1585-7C>AUnknown
NRDE2ENSG00000119720ENST00000354366p.S247Ac.739T>GSubstitution - Missense
UNC13CENSG00000137766ENST00000260323p.C2088Yc.6263G>ASubstitution - Missense
PXNENSG00000089159ENST00000424649p.L304Lc.910C>TSubstitution - coding silent
MOB2ENSG00000182208ENST00000329957p.E267Dc.801G>CSubstitution - Missense
COL6A2ENSG00000142173ENST00000310645p.L694Fc.2080C>TSubstitution - Missense
PTPDC1ENSG00000158079ENST00000375360p.?c.335+3A>GUnknown
NSMFENSG00000165802ENST00000371472p.E390Vc.1169A>TSubstitution - Missense
ATMENSG00000149311ENST00000278616p.R1585Sc.4755A>CSubstitution - Missense
PLECENSG00000178209ENST00000354589p.G4327Sc.12979G>ASubstitution - Missense
GATAD2AENSG00000167491ENST00000404158p.A527Sc.1579G>TSubstitution - Missense
ANKRD44ENSG00000065413ENST00000337207p.G722fs*8c.2163_2185del23Deletion - Frameshift
ZNF646ENSG00000167395ENST00000394979p.M1000Ic.3000G>CSubstitution - Missense
CDK13ENSG00000065883ENST00000181839p.K560Nc.1680A>TSubstitution - Missense
TRIOENSG00000038382ENST00000344204p.G1484Vc.4451G>TSubstitution - Missense
PPP2R3AENSG00000073711ENST00000334546p.P58Lc.173C>TSubstitution - Missense
OSBPL3ENSG00000070882ENST00000313367p.A369Ac.1107C>GSubstitution - coding silent
DESENSG00000175084ENST00000373960p.E457Ec.1371G>ASubstitution - coding silent
NM_003319p.T9220Ac.27658A>GSubstitution - Missense
KRT28ENSG00000173908ENST00000306658p.T343Tc.1029G>ASubstitution - coding silent
MST1RENSG00000164078ENST00000296474p.Q193fs*20c.576_610del35Deletion - Frameshift
CCDC158ENSG00000163749ENST00000388914p.E898Dc.2694A>CSubstitution - Missense
NCOR1ENSG00000141027ENST00000268712p.S2304Nc.6911G>ASubstitution - Missense
NINENSG00000100503ENST00000245441p.N1883Sc.5648A>GSubstitution - Missense
ARHGEF12ENSG00000196914ENST00000397843p.R605Rc.1813C>ASubstitution - coding silent
HOMER2ENSG00000103942ENST00000304231p.D416Gc.1247A>GSubstitution - Missense
CRTAC1ENSG00000095713ENST00000370597p.P316Rc.947C>GSubstitution - Missense
LAMB3ENSG00000196878ENST00000367030p.A959Pc.2875G>CSubstitution - Missense
NM_015057.1p.?c.2413+9G>CUnknown
NM_006226.1p.A946Dc.2837C>ASubstitution - Missense
SLC30A8ENSG00000164756ENST00000456015p.T7Tc.21G>ASubstitution - coding silent
HIATL1ENSG00000148110ENST00000375344p.I124Vc.370A>GSubstitution - Missense
KRTAP10-2ENSG00000205445ENST00000391621p.P87Lc.260C>TSubstitution - Missense
ENST00000414315p.A27Vc.80C>TSubstitution - Missense
MAP3K15ENSG00000180815ENST00000338883p.E501Dc.1503A>CSubstitution - Missense
GRIA3ENSG00000125675ENST00000371264p.L23*c.68T>ASubstitution - Nonsense
SAGE1ENSG00000181433ENST00000535938p.D826Ac.2477A>CSubstitution - Missense
FANCGENSG00000221829ENST00000378643p.V125Fc.373G>TSubstitution - Missense
CAMSAP1ENSG00000130559ENST00000409386p.L1176Pc.3527T>CSubstitution - Missense
NSMFENSG00000165802ENST00000392812p.E369Vc.1106A>TSubstitution - Missense
ADHFE1ENSG00000147576ENST00000379385p.I289Ic.867C>TSubstitution - coding silent
CCDC129ENSG00000180347ENST00000451887p.E911Qc.2731G>CSubstitution - Missense
PJA2ENSG00000198961ENST00000361189p.S494Sc.1482C>ASubstitution - coding silent
FAM149AENSG00000109794ENST00000356371p.?c.2249-2A>TUnknown
SIDT1ENSG00000072858ENST00000393830p.?c.1263+5C>TUnknown
GNB1LENSG00000185838ENST00000405009p.R37Rc.111C>ASubstitution - coding silent
OR7G1ENSG00000161807ENST00000541538p.A272Sc.814G>TSubstitution - Missense
ABCA8ENSG00000141338ENST00000430352p.E122Kc.364G>ASubstitution - Missense
RBFOX1ENSG00000078328ENST00000547372p.P67Sc.199C>TSubstitution - Missense
UNC13CENSG00000137766ENST00000545554p.C2088Yc.6263G>ASubstitution - Missense
SMAP2ENSG00000084070ENST00000372708p.S225*c.674C>GSubstitution - Nonsense
TMEM132DENSG00000151952ENST00000389441p.V208Ac.623T>CSubstitution - Missense
TCHPENSG00000139437ENST00000312777p.E93Kc.277G>ASubstitution - Missense
SPTBN2ENSG00000173898ENST00000529997p.E1048Gc.3143A>GSubstitution - Missense
OR5D14ENSG00000186113ENST00000335605p.S114Sc.342T>ASubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.E1929Ac.5786A>CSubstitution - Missense
HYOU1ENSG00000149428ENST00000543287p.T9Tc.27G>ASubstitution - coding silent
CDH23ENSG00000107736ENST00000299366p.A608Vc.1823C>TSubstitution - Missense
CDH23ENSG00000107736ENST00000442677p.A122Vc.365C>TSubstitution - Missense
CRTAC1ENSG00000095713ENST00000370591p.P316Rc.947C>GSubstitution - Missense
WBP1LENSG00000166272ENST00000448841p.I195Ic.585C>TSubstitution - coding silent
BRD3ENSG00000169925ENST00000371834p.A429Ac.1287G>ASubstitution - coding silent
PDE1AENSG00000115252ENST00000409365p.G376Ec.1127G>ASubstitution - Missense
ENST00000331340_v65p.S499Tc.1496G>CSubstitution - Missense
CCDC39ENSG00000145075ENST00000273654p.R713Rc.2139C>TSubstitution - coding silent
PPP2R3AENSG00000073711ENST00000264977p.P679Lc.2036C>TSubstitution - Missense
NYAP1ENSG00000166924ENST00000300179p.P547Ac.1639C>GSubstitution - Missense
POMKENSG00000185900ENST00000331373p.C244Cc.732C>TSubstitution - coding silent
KIR3DL3ENSG00000242019ENST00000291860p.G219Dc.656G>ASubstitution - Missense
POLRMTENSG00000099821ENST00000588649p.H859Hc.2577C>TSubstitution - coding silent
NECAB2ENSG00000103154ENST00000305202p.H113Hc.339T>CSubstitution - coding silent
NADK2ENSG00000152620ENST00000381937p.?c.560+9G>TUnknown
ENST00000426033p.D1213Gc.3638A>GSubstitution - Missense
USP35ENSG00000118369ENST00000529308p.A974Sc.2920G>TSubstitution - Missense
RALGAPA1ENSG00000174373ENST00000307138p.V672Ic.2014G>ASubstitution - Missense
MX1ENSG00000157601ENST00000398598p.Q606Qc.1818G>ASubstitution - coding silent
BCORENSG00000183337ENST00000397354p.T936Nc.2807C>ASubstitution - Missense
NM_032217.3p.L912Pc.2735T>CSubstitution - Missense
ADAMTS2ENSG00000087116ENST00000251582p.I330Nc.989T>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.R1615Mc.4844G>TSubstitution - Missense
PTPDC1ENSG00000158079ENST00000288976p.?c.491+3A>GUnknown
RBFOX1ENSG00000078328ENST00000311745p.P44Sc.130C>TSubstitution - Missense
DCCENSG00000187323ENST00000442544p.?c.3130+6A>CUnknown
TRPM6ENSG00000119121ENST00000449912p.V1223Fc.3667G>TSubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.Y2756*c.8268C>ASubstitution - Nonsense
TP53ENSG00000141510ENST00000420246p.A159Vc.476C>TSubstitution - Missense
ZNF576ENSG00000124444ENST00000336564p.P102Pc.306G>ASubstitution - coding silent
ENST00000412510p.T179Ic.536C>TSubstitution - Missense
NLGN1ENSG00000169760ENST00000401917p.Y85Cc.254A>GSubstitution - Missense
NM_014422.1p.W262fs*32c.781_782delCTDeletion - Frameshift
SORT1ENSG00000134243ENST00000256637p.V126Vc.378C>GSubstitution - coding silent
WBP11ENSG00000084463ENST00000261167p.E99Qc.295G>CSubstitution - Missense
AAASENSG00000094914ENST00000209873p.T476Tc.1428A>GSubstitution - coding silent
SMAD4ENSG00000141646ENST00000342988p.S343*c.1028C>GSubstitution - Nonsense
TGM3ENSG00000125780ENST00000381458p.A203Tc.607G>ASubstitution - Missense
COL6A2ENSG00000142173ENST00000357838p.L694Fc.2080C>TSubstitution - Missense
FAM155BENSG00000130054ENST00000252338p.T201Tc.603C>TSubstitution - coding silent
SPANXCENSG00000198573ENST00000358993p.G8Sc.22G>ASubstitution - Missense
DMP1ENSG00000152592ENST00000339673p.?c.55-3T>GUnknown
UBAC1ENSG00000130560ENST00000371756p.A321Tc.961G>ASubstitution - Missense
RBFOX1ENSG00000078328ENST00000355637p.P44Sc.130C>TSubstitution - Missense
NM_002311.2p.P279Pc.837A>GSubstitution - coding silent
KRT33BENSG00000131738ENST00000251646p.G33Rc.97G>ASubstitution - Missense
ENST00000215591p.H844Hc.2532C>TSubstitution - coding silent
BRCA2ENSG00000139618ENST00000380152p.S1982fs*22c.5946delTDeletion - Frameshift
ENST00000225928p.S132Lc.395C>TSubstitution - Missense
SH3RF3ENSG00000172985ENST00000309415p.R663Rc.1989G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.R6485Sc.19455A>TSubstitution - Missense
GPTENSG00000167701ENST00000528431p.D24Dc.72C>TSubstitution - coding silent
ENST00000359032_v68p.E459Kc.1375G>ASubstitution - Missense
HSD17B3ENSG00000130948ENST00000375263p.E93Dc.279G>CSubstitution - Missense
TPTE2ENSG00000132958ENST00000390680p.Y378Yc.1134T>CSubstitution - coding silent
NIPBLENSG00000164190ENST00000282516p.?c.6109-38_6250-39del289Unknown
SPTBN5ENSG00000137877ENST00000320955p.M2734Vc.8200A>GSubstitution - Missense
PLECENSG00000178209ENST00000356346p.G4313Sc.12937G>ASubstitution - Missense
CDK13ENSG00000065883ENST00000181839p.T509Ac.1525A>GSubstitution - Missense
BAZ1BENSG00000009954ENST00000339594p.S493Sc.1479C>TSubstitution - coding silent
LCA5LENSG00000157578ENST00000380671p.T269Kc.806C>ASubstitution - Missense
PI4KAENSG00000241973ENST00000572273p.P1071Pc.3213G>TSubstitution - coding silent
KRT31ENSG00000094796ENST00000251645p.C100Rc.298T>CSubstitution - Missense
TRPA1ENSG00000104321ENST00000262209p.A316Vc.947C>TSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.E1929Ac.5786A>CSubstitution - Missense
SGTBENSG00000197860ENST00000381007p.I195Tc.584T>CSubstitution - Missense
SPATA31D1ENSG00000214929ENST00000344803p.L1358Lc.4074G>ASubstitution - coding silent
DDX43ENSG00000080007ENST00000370336p.I491Lc.1471A>CSubstitution - Missense
SU_EPHA6p.I973Tc.2918T>CSubstitution - Missense
HAUS1ENSG00000152240ENST00000282058p.L269Vc.805C>GSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.S2251Lc.6752C>TSubstitution - Missense
SHMT2ENSG00000182199ENST00000393827p.T116Tc.348T>CSubstitution - coding silent
MSH5ENSG00000204410ENST00000375703p.K786Nc.2358G>TSubstitution - Missense
SNX13ENSG00000071189ENST00000428135p.Q829Hc.2487A>TSubstitution - Missense
ZNF783ENSG00000204946ENST00000434415p.P228Lc.683C>TSubstitution - Missense
ZFPM2ENSG00000169946ENST00000407775p.P786Lc.2357C>TSubstitution - Missense
RAPH1ENSG00000173166ENST00000308091p.K257Rc.770A>GSubstitution - Missense
LIMCH1ENSG00000064042ENST00000503057p.Q696Rc.2087A>GSubstitution - Missense
AP2A1ENSG00000196961ENST00000359032p.E459Kc.1375G>ASubstitution - Missense
TPTE2ENSG00000132958ENST00000400230p.Y455Yc.1365T>CSubstitution - coding silent
ATMENSG00000149311ENST00000278616p.R1585Sc.4755A>CSubstitution - Missense
HYOU1ENSG00000149428ENST00000404233p.T96Tc.288G>ASubstitution - coding silent
ENST00000398860p.A610Vc.1829C>TSubstitution - Missense
RASGRF1ENSG00000058335ENST00000419573p.S60Wc.179C>GSubstitution - Missense
KCNA6ENSG00000151079ENST00000280684p.R200Cc.598C>TSubstitution - Missense
ENST00000373926p.Q75Ec.223C>GSubstitution - Missense
ABHD15ENSG00000168792ENST00000307201p.R413Qc.1238G>ASubstitution - Missense
ASIC5ENSG00000256394ENST00000537611p.Y422Yc.1266T>CSubstitution - coding silent
NM_001371.1p.F2494Vc.7480T>GSubstitution - Missense
DUSP11ENSG00000144048ENST00000272444p.H289Rc.866A>GSubstitution - Missense
CYP3A43ENSG00000021461ENST00000222382p.T49Tc.147T>GSubstitution - coding silent
PCM1ENSG00000078674ENST00000325083p.P358Lc.1073C>TSubstitution - Missense
MYOZ1ENSG00000177791ENST00000359322p.I290Ic.870C>ASubstitution - coding silent
ENSG00000180574ENST00000322446p.R103Rc.309A>CSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.A159Vc.476C>TSubstitution - Missense
LCA5LENSG00000157578ENST00000358268p.T269Kc.806C>ASubstitution - Missense
COL4A4ENSG00000081052ENST00000396625p.?c.931-1G>AUnknown
HHIPENSG00000164161ENST00000296575p.L429Lc.1287C>TSubstitution - coding silent
DCLK2ENSG00000170390ENST00000296550p.S688Sc.2064C>TSubstitution - coding silent
FLNCENSG00000128591ENST00000325888p.I714Ic.2142C>TSubstitution - coding silent
TRAF6ENSG00000175104ENST00000526995p.S438Cc.1313C>GSubstitution - Missense
GPC5ENSG00000179399ENST00000377067p.P159Tc.475C>ASubstitution - Missense
PSKH1ENSG00000159792ENST00000291041p.L212Lc.636G>ASubstitution - coding silent
FBXO25ENSG00000147364ENST00000276326p.I41fs*8c.121_122delATDeletion - Frameshift
ADAMTS2ENSG00000087116ENST00000274609p.I330Nc.989T>ASubstitution - Missense
OR8K5ENSG00000181752ENST00000313447p.N286Kc.858C>GSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
NM_153697.1p.G722fs*8c.2163_2185del23Deletion - Frameshift
PLECENSG00000178209ENST00000354958p.G4305Sc.12913G>ASubstitution - Missense
KIR2DL1ENSG00000125498ENST00000336077p.L94Lc.282G>TSubstitution - coding silent
ITGA11ENSG00000137809ENST00000315757p.R837Qc.2510G>ASubstitution - Missense
DHRS4ENSG00000157326ENST00000313250p.R159Lc.476G>TSubstitution - Missense
TEX13BENSG00000170925ENST00000302917p.G311Sc.931G>ASubstitution - Missense
THEMISENSG00000172673ENST00000368248p.L449Pc.1346T>CSubstitution - Missense
DCCENSG00000187323ENST00000442544p.K1411Tc.4232A>CSubstitution - Missense
HSPA5ENSG00000044574ENST00000324460p.T69Pc.205A>CSubstitution - Missense
DLK2ENSG00000171462ENST00000357338p.P50Pc.150G>ASubstitution - coding silent
COPB2ENSG00000184432ENST00000333188p.N725Kc.2175T>ASubstitution - Missense
NBEAL2ENSG00000160796ENST00000450053p.E835Ec.2505G>ASubstitution - coding silent
ZNF646ENSG00000167395ENST00000300850p.M1000Ic.3000G>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.T9412Ac.28234A>GSubstitution - Missense
CPS1ENSG00000021826ENST00000430249p.C654Rc.1960T>CSubstitution - Missense
PAX9ENSG00000198807ENST00000402703p.S270Sc.810A>TSubstitution - coding silent
C11orf44ENSG00000175728ENST00000317019p.P36Pc.108G>ASubstitution - coding silent
NDNENSG00000182636ENST00000331837p.A36Vc.107C>TSubstitution - Missense
XM_370630.2p.L258Vc.772C>GSubstitution - Missense
PIK3CGENSG00000105851ENST00000440650p.T827Rc.2480C>GSubstitution - Missense
NEO1ENSG00000067141ENST00000261908p.I329Vc.985A>GSubstitution - Missense
TLR7ENSG00000196664ENST00000380659p.L840Lc.2520G>ASubstitution - coding silent
NINENSG00000100503ENST00000453196p.N1883Sc.5648A>GSubstitution - Missense
LRRC56ENSG00000161328ENST00000270115p.V71Gc.212T>GSubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.N1060Ic.3179A>TSubstitution - Missense
RSPH9ENSG00000172426ENST00000372165p.L222Lc.666G>ASubstitution - coding silent
NOM1ENSG00000146909ENST00000275820p.V767Vc.2301A>GSubstitution - coding silent
OR4K17ENSG00000176230ENST00000315543p.I243Ic.729T>ASubstitution - coding silent
KRT31ENSG00000094796ENST00000251645p.C100Rc.298T>CSubstitution - Missense
MAP2K4ENSG00000065559ENST00000353533p.E221*c.661G>TSubstitution - Nonsense
MERTKENSG00000153208ENST00000295408p.E831Qc.2491G>CSubstitution - Missense
ZNF646ENSG00000167395ENST00000394979p.S906Yc.2717C>ASubstitution - Missense
ZNF574ENSG00000105732ENST00000222339p.F735Fc.2205C>TSubstitution - coding silent
ENST00000312777_v70p.E93Kc.277G>ASubstitution - Missense
CCDC50ENSG00000152492ENST00000392456p.?c.239+6G>CUnknown
SEC62ENSG00000008952ENST00000337002p.A291Ec.872C>ASubstitution - Missense
MBD4ENSG00000129071ENST00000249910p.D402Hc.1204G>CSubstitution - Missense
PLK4ENSG00000142731ENST00000270861p.?c.2188+5G>CUnknown
FLGENSG00000143631ENST00000368799p.T1262Rc.3785C>GSubstitution - Missense
PCNXENSG00000100731ENST00000304743p.L2161Lc.6483G>ASubstitution - coding silent
POLR3BENSG00000013503ENST00000228347p.Q434Pc.1301A>CSubstitution - Missense
OR5P2ENSG00000183303ENST00000329434p.F102Lc.306C>GSubstitution - Missense
DNAJC22ENSG00000178401ENST00000395069p.G287Wc.859G>TSubstitution - Missense
YWHAEENSG00000108953ENST00000264335p.E251Ac.752A>CSubstitution - Missense
DCCENSG00000187323ENST00000442544p.L1042Mc.3124C>ASubstitution - Missense
LRRC7ENSG00000033122ENST00000035383p.V1027fs*5c.3071_3072insAInsertion - Frameshift
ACSF3ENSG00000176715ENST00000317447p.G90Sc.268G>ASubstitution - Missense
RALGAPA1ENSG00000174373ENST00000258840p.V672Ic.2014G>ASubstitution - Missense
RTP2ENSG00000198471ENST00000358241p.Q46Kc.136C>ASubstitution - Missense
DPP4ENSG00000197635ENST00000360534p.E521Kc.1561G>ASubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.R935Cc.2803C>TSubstitution - Missense
IL5ENSG00000113525ENST00000231454p.L34fs*6c.101_126del26Deletion - Frameshift
PSME3ENSG00000131467ENST00000293362p.G140Dc.419G>ASubstitution - Missense
ZNF646ENSG00000167395ENST00000300850p.S906Yc.2717C>ASubstitution - Missense
CDK15ENSG00000138395ENST00000374598p.R64Cc.190C>TSubstitution - Missense
ENST00000278882_v61p.I126Vc.376A>GSubstitution - Missense
ENST00000273600p.A3177Ac.9531C>TSubstitution - coding silent
ATP8A1ENSG00000124406ENST00000264449p.I114Vc.340A>GSubstitution - Missense
RUSC1ENSG00000160753ENST00000368347p.G264Cc.790G>TSubstitution - Missense
NINENSG00000100503ENST00000382041p.N1883Sc.5648A>GSubstitution - Missense
ENST00000257034p.?c.448+4A>GUnknown
C11orf84ENSG00000168005ENST00000294244p.R305Wc.913C>TSubstitution - Missense
SCAMP5ENSG00000198794ENST00000361900p.L43Lc.129C>TSubstitution - coding silent
GPR4ENSG00000177464ENST00000323040p.P359Pc.1077G>ASubstitution - coding silent
SMAP2ENSG00000084070ENST00000372718p.S255*c.764C>GSubstitution - Nonsense
B3GALNT2ENSG00000162885ENST00000366600p.V69Vc.207G>ASubstitution - coding silent
PDE1AENSG00000115252ENST00000410103p.G392Ec.1175G>ASubstitution - Missense
ZNF676ENSG00000196109ENST00000397121p.D89Yc.265G>TSubstitution - Missense
DCCENSG00000187323ENST00000412726p.L870Mc.2608C>ASubstitution - Missense
THSD7AENSG00000005108ENST00000423059p.D959Dc.2877C>TSubstitution - coding silent
PCDHGB6ENSG00000253305ENST00000520790p.D216Dc.648C>TSubstitution - coding silent
DBF4BENSG00000161692ENST00000315005p.M473fs*43c.1416_1419delCATGDeletion - Frameshift
MSANTD3ENSG00000066697ENST00000395067p.E75Vc.224A>TSubstitution - Missense
CRTC1ENSG00000105662ENST00000338797p.P79Pc.237C>TSubstitution - coding silent
ZNF48ENSG00000180035ENST00000320159p.E383Ec.1149G>ASubstitution - coding silent
IL36RNENSG00000136695ENST00000393200p.I146Vc.436A>GSubstitution - Missense
INPP5JENSG00000185133ENST00000331075p.W629fs*32c.1882_1883delCTDeletion - Frameshift
ASXL2ENSG00000143970ENST00000272341p.E581Ec.1743A>GSubstitution - coding silent
PLECENSG00000178209ENST00000436759p.G4354Sc.13060G>ASubstitution - Missense
MAP2K3ENSG00000034152ENST00000361818p.A282fs*4c.840delCDeletion - Frameshift
FLNCENSG00000128591ENST00000325888p.E1320Ec.3960G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000455263p.A159Vc.476C>TSubstitution - Missense
FANCCENSG00000158169ENST00000289081p.?c.456+4A>TUnknown
UNC13CENSG00000137766ENST00000260323p.C2088Yc.6263G>ASubstitution - Missense
DNAH14ENSG00000185842ENST00000445597p.R1259Hc.3776G>ASubstitution - Missense
FBLENSG00000105202ENST00000221801p.R74Wc.220C>TSubstitution - Missense
KRASENSG00000133703ENST00000256078p.G12Vc.35G>TSubstitution - Missense
VANGL2ENSG00000162738ENST00000368061p.H281Rc.842A>GSubstitution - Missense
BUD13ENSG00000137656ENST00000260210p.N472Sc.1415A>GSubstitution - Missense
BRCA2ENSG00000139618ENST00000544455p.S1982fs*22c.5946delTDeletion - Frameshift
KCNT2ENSG00000162687ENST00000367431p.T606Kc.1817C>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.F2711Vc.8131T>GSubstitution - Missense
DCCENSG00000187323ENST00000412726p.?c.2614+6A>CUnknown
ITPKCENSG00000086544ENST00000263370p.D368Nc.1102G>ASubstitution - Missense
KAT2AENSG00000108773ENST00000225916p.P402Hc.1205C>ASubstitution - Missense
CAMSAP1ENSG00000130559ENST00000389532p.L1165Pc.3494T>CSubstitution - Missense
ENST00000231589p.R282Gc.844C>GSubstitution - Missense
ZNF587ENSG00000198466ENST00000339656p.K275Ic.824A>TSubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.D1803Hc.5407G>CSubstitution - Missense
P4HBENSG00000185624ENST00000331483p.F288Fc.864C>TSubstitution - coding silent
LBPENSG00000129988ENST00000217407p.V31Vc.93C>TSubstitution - coding silent
DNAI1ENSG00000122735ENST00000242317p.?c.901+1G>TUnknown
EVPLENSG00000167880ENST00000301607p.I1792Ic.5376C>TSubstitution - coding silent
ZNF536ENSG00000198597ENST00000355537p.I113fs*87c.335_377del43Deletion - Frameshift
FBXO22ENSG00000167196ENST00000453211p.K229Ec.685A>GSubstitution - Missense
ENSG00000180574ENST00000538173p.R103Rc.309A>CSubstitution - coding silent
SLC22A17ENSG00000092096ENST00000206544p.G363Cc.1087G>TSubstitution - Missense
SYNDIG1LENSG00000183379ENST00000331628p.P108Ac.322C>GSubstitution - Missense
ARMC7ENSG00000125449ENST00000245543p.P128Pc.384G>ASubstitution - coding silent
ADD3ENSG00000148700ENST00000356080p.*707del*c.2119_2121delTAADeletion - In frame
LRP4ENSG00000134569ENST00000378623p.P1251Pc.3753G>ASubstitution - coding silent
UBR3ENSG00000144357ENST00000418381p.A527Ac.1581C>GSubstitution - coding silent
CDK13ENSG00000065883ENST00000181839p.L552Vc.1654T>GSubstitution - Missense
GRHL2ENSG00000083307ENST00000251808p.N400fs*126c.1195_1210del16Deletion - Frameshift
UBAC1ENSG00000130560ENST00000371756p.P342Pc.1026C>TSubstitution - coding silent
NME2ENSG00000011052ENST00000393193p.P59Ac.175C>GSubstitution - Missense
PLEKHA8ENSG00000106086ENST00000449726p.P495Hc.1484C>ASubstitution - Missense
ZNF135ENSG00000176293ENST00000313434p.G462Ec.1385G>ASubstitution - Missense
KRTAP9-2ENSG00000239886ENST00000377721p.V29Vc.87G>CSubstitution - coding silent
GON4LENSG00000116580ENST00000437809p.S1876Nc.5627G>ASubstitution - Missense
RUSC1ENSG00000160753ENST00000292254p.G205Cc.613G>TSubstitution - Missense
CLSPNENSG00000092853ENST00000318121p.T142Ac.424A>GSubstitution - Missense
ZNF716ENSG00000182111ENST00000420713p.E81Dc.243G>TSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.A159Vc.476C>TSubstitution - Missense
MAN1C1ENSG00000117643ENST00000374332p.I265Ic.795C>TSubstitution - coding silent
PRDM9ENSG00000164256ENST00000296682p.K168Nc.504A>TSubstitution - Missense
SERPINF1ENSG00000132386ENST00000254722p.?c.643+6C>TUnknown
TRPM6ENSG00000119121ENST00000360774p.V1228Fc.3682G>TSubstitution - Missense
CSTAENSG00000121552ENST00000264474p.S7Cc.20C>GSubstitution - Missense
CNOT1ENSG00000125107ENST00000441024p.L1177Lc.3531G>CSubstitution - coding silent
RAD54LENSG00000085999ENST00000442598p.D711Gc.2132A>GSubstitution - Missense
DLG2ENSG00000150672ENST00000376104p.V40Fc.118G>TSubstitution - Missense
CLSPNENSG00000092853ENST00000251195p.T142Ac.424A>GSubstitution - Missense
KCNT2ENSG00000162687ENST00000294725p.T656Kc.1967C>ASubstitution - Missense
PLAC8L1ENSG00000173261ENST00000311450p.R10Rc.30G>ASubstitution - coding silent
GOLM1ENSG00000135052ENST00000388712p.G292Ac.875G>CSubstitution - Missense
MLLT10ENSG00000078403ENST00000377100p.G33Gc.99C>TSubstitution - coding silent
NANOGENSG00000111704ENST00000229307p.K20Rc.59A>GSubstitution - Missense
KCNT1ENSG00000107147ENST00000263604p.Q524Rc.1571A>GSubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.N1060Ic.3179A>TSubstitution - Missense
PRXENSG00000105227ENST00000324001p.E698Kc.2092G>ASubstitution - Missense
ZNF335ENSG00000198026ENST00000322927p.E430Ec.1290G>ASubstitution - coding silent
DNAH5ENSG00000039139ENST00000265104p.V1779Ac.5336T>CSubstitution - Missense
ENST00000275579p.D212Ec.636T>ASubstitution - Missense
NLGN1ENSG00000169760ENST00000457714p.Y85Cc.254A>GSubstitution - Missense
WSCD1ENSG00000179314ENST00000317744p.E372Dc.1116G>CSubstitution - Missense
TP53BP1ENSG00000067369ENST00000263801p.V1916Gc.5747T>GSubstitution - Missense
ADCY10ENSG00000143199ENST00000367851p.?c.4052+9C>GUnknown
TICRRENSG00000140534ENST00000268138p.G1259Ac.3776G>CSubstitution - Missense
EPHB2ENSG00000133216ENST00000374632p.A893fs*57c.2673delCDeletion - Frameshift
DNAH14ENSG00000185842ENST00000430092p.R1669Hc.5006G>ASubstitution - Missense
GRIA3ENSG00000125675ENST00000264357p.L23*c.68T>ASubstitution - Nonsense
TAS1R2ENSG00000179002ENST00000375371p.L776Lc.2328C>ASubstitution - coding silent
UPK1BENSG00000114638ENST00000264234p.A90Vc.269C>TSubstitution - Missense
DEPDC1BENSG00000035499ENST00000265036p.V382Vc.1146A>CSubstitution - coding silent


COSMIC

533 mutations reported
232 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
POLEENSG00000177084ENST00000320574p.?c.2865-3C>TUnknown21750719
LRRC37A2ENSG00000238083ENST00000333412p.A321Ac.963C>TSubstitution - coding silent21750719
EFCAB13ENSG00000178852ENST00000331493p.Y546*c.1638T>GSubstitution - Nonsense21750719
LLGL2ENSG00000073350ENST00000392550p.P373Lc.1118C>TSubstitution - Missense21750719
KIR2DL3ENSG00000243772ENST00000342376p.R162Tc.485G>CSubstitution - Missense21750719
SLC9C1ENSG00000172139ENST00000305815p.A1057Sc.3169G>TSubstitution - Missense21750719
OLR1ENSG00000173391ENST00000309539p.V50Ic.148G>ASubstitution - Missense21750719
SLC4A5ENSG00000188687ENST00000394019p.R21delRc.60_62delGAGDeletion - In frame21750719
AGERENSG00000204305ENST00000375076p.C301Sc.902G>CSubstitution - Missense21750719
ACOT7ENSG00000097021ENST00000361521p.T341Tc.1023C>TSubstitution - coding silent21750719
PDE4DIPENSG00000178104ENST00000369356p.C2336Cc.7008C>TSubstitution - coding silent21750719
KRASENSG00000133703ENST00000311936p.G12Vc.35G>TSubstitution - Missense21750719
GPRC5CENSG00000170412ENST00000392629p.?c.4+10G>AUnknown21750719
N4BP2ENSG00000078177ENST00000261435p.P908Sc.2722C>TSubstitution - Missense21750719
UNC5AENSG00000113763ENST00000329542p.?c.2185-10C>GUnknown21750719
GLT6D1ENSG00000204007ENST00000371763p.W198*c.593G>ASubstitution - Nonsense21750719
PRDM16ENSG00000142611ENST00000270722p.S378Sc.1134C>GSubstitution - coding silent21750719
USH2AENSG00000042781ENST00000307340p.S2251Lc.6752C>TSubstitution - Missense21750719
BRD2ENSG00000204256ENST00000395289p.A801Tc.2401G>ASubstitution - Missense21750719
B3GALNT2ENSG00000162885ENST00000366600p.V69Vc.207G>ASubstitution - coding silent21750719
EFTUD1ENSG00000140598ENST00000268206p.A991Tc.2971G>ASubstitution - Missense21750719
CACHD1ENSG00000158966ENST00000290039p.R162Pc.485G>CSubstitution - Missense21750719
ENST00000251757p.T12Tc.36C>ASubstitution - coding silent21750719
USPL1ENSG00000132952ENST00000255304p.N454Kc.1362T>GSubstitution - Missense21750719
SMAP2ENSG00000084070ENST00000372718p.S255*c.764C>GSubstitution - Nonsense21750719
PAXBP1ENSG00000159086ENST00000331923p.?c.975+5G>AUnknown21750719
NF1ENSG00000196712ENST00000358273p.Q282Qc.846G>ASubstitution - coding silent21750719
DHRSXENSG00000169084ENST00000334651p.F38Lc.112T>CSubstitution - Missense21750719
C6orf223ENSG00000181577ENST00000336600p.L175Hc.524T>ASubstitution - Missense21750719
PLXNA4ENSG00000221866ENST00000321063p.H1870Yc.5608C>TSubstitution - Missense21750719
RBM25ENSG00000119707ENST00000261973p.?c.544-7G>AUnknown21750719
PBRM1ENSG00000163939ENST00000296302p.I493Ic.1479C>TSubstitution - coding silent21750719
SLC46A2ENSG00000119457ENST00000374228p.G327Ac.980G>CSubstitution - Missense21750719
QSOX1ENSG00000116260ENST00000367602p.P504Pc.1512A>CSubstitution - coding silent21750719
TRNAU1APENSG00000180098ENST00000373830p.D108Dc.324T>CSubstitution - coding silent21750719
OSMRENSG00000145623ENST00000274276p.G578Dc.1733G>ASubstitution - Missense21750719
GCC2ENSG00000135968ENST00000309863p.E1583Ec.4749A>GSubstitution - coding silent21750719
KRT31ENSG00000094796ENST00000251645p.C100Rc.298T>CSubstitution - Missense21750719
TNS1ENSG00000079308ENST00000171887p.E8delEc.24_26delGGADeletion - In frame21750719
ANO8ENSG00000074855ENST00000159087p.T273Tc.819A>CSubstitution - coding silent21750719
SLC9B1ENSG00000164037ENST00000296422p.L405Lc.1215A>CSubstitution - coding silent21750719
DEPDC1BENSG00000035499ENST00000265036p.V209Ic.625G>ASubstitution - Missense21750719
ABCA8ENSG00000141338ENST00000269080p.E122Kc.364G>ASubstitution - Missense21750719
CDKN2AENSG00000147889ENST00000304494p.?c.1_457del457Unknown7845688
KRASENSG00000133703ENST00000311936p.G12Vc.35G>TSubstitution - Missense9324130
KRASENSG00000133703ENST00000311936p.G12Vc.35G>TSubstitution - Missense15367885
SMAD4ENSG00000141646ENST00000342988p.S343*c.1028C>GSubstitution - Nonsense8653691
CDKN2AENSG00000147889ENST00000304494p.?c.1_457del457Unknown8613012
CDKN2AENSG00000147889ENST00000304494p.?c.?_?del?Unknown21412932
SMAD4ENSG00000141646ENST00000342988p.S343*c.1028C>GSubstitution - Nonsense10408907
KRASENSG00000133703ENST00000311936p.G12Vc.35G>TSubstitution - Missense19893451
ACOXLENSG00000153093ENST00000389811p.R360Qc.1079G>ASubstitution - Missense21750719
EVC2ENSG00000173040ENST00000344408p.R608Hc.1823G>ASubstitution - Missense21750719
CAMTA1ENSG00000171735ENST00000303635p.S947Sc.2841G>ASubstitution - coding silent21750719
NBPF14ENSG00000122497ENST00000369219p.P852Pc.2556T>GSubstitution - coding silent21750719
SLC30A8ENSG00000164756ENST00000456015p.T7Tc.21G>ASubstitution - coding silent21750719
HIATL1ENSG00000148110ENST00000375344p.I124Vc.370A>GSubstitution - Missense21750719
USP53ENSG00000145390ENST00000274030p.N1005Nc.3015C>TSubstitution - coding silent21750719
GPR125ENSG00000152990ENST00000334304p.I514Ic.1542T>CSubstitution - coding silent21750719
NM_006226.1p.A946Dc.2837C>ASubstitution - Missense21750719
SLC9C1ENSG00000172139ENST00000305815p.T970Tc.2910T>CSubstitution - coding silent21750719
AGERENSG00000204305ENST00000375076p.W271Rc.811T>ASubstitution - Missense21750719
PSG4ENSG00000243137ENST00000244295p.V18Lc.52G>CSubstitution - Missense21750719
COL4A4ENSG00000081052ENST00000396625p.G1295Gc.3885T>CSubstitution - coding silent21750719
ALG14ENSG00000172339ENST00000370205p.V16Gc.47T>GSubstitution - Missense21750719
CRIPAKENSG00000179979ENST00000324803p.L108Hc.323T>ASubstitution - Missense21750719
DNAJC17ENSG00000104129ENST00000220496p.V204Lc.610G>CSubstitution - Missense21750719
CWF19L1ENSG00000095485ENST00000354105p.?c.1473-6C>GUnknown21750719
KRTAP1-5ENSG00000221852ENST00000361883p.C133fs*4c.396delCDeletion - Frameshift21750719
MRPS21ENSG00000187145ENST00000309092p.L75Vc.223T>GSubstitution - Missense21750719
DPM1ENSG00000000419ENST00000371588p.?c.679-7_679-6insTUnknown21750719
CNTN4ENSG00000144619ENST00000397459p.P572Sc.1714C>TSubstitution - Missense21750719
BPTFENSG00000171634ENST00000335221p.N1438Nc.4314T>CSubstitution - coding silent21750719
KIAA1407ENSG00000163617ENST00000295878p.E416fs*3c.1245delCDeletion - Frameshift21750719
BPIFB3ENSG00000186190ENST00000375494p.K355Kc.1065G>ASubstitution - coding silent21750719
SLC35E4ENSG00000100036ENST00000343605p.L290Ic.868C>ASubstitution - Missense21750719
PCDHB16ENSG00000196963ENST00000361016p.T487Pc.1459A>CSubstitution - Missense21750719
EPHA2ENSG00000142627ENST00000358432p.S169Sc.507C>TSubstitution - coding silent21750719
NM_144650.1p.I241Ic.723C>TSubstitution - coding silent21750719
TAS1R2ENSG00000179002ENST00000375371p.R707Cc.2119C>TSubstitution - Missense21750719
PALM2ENSG00000243444ENST00000374531p.R372Hc.1115G>ASubstitution - Missense21750719
C10orf129ENSG00000173124ENST00000341686p.R253Rc.759G>ASubstitution - coding silent21750719
MPHOSPH10ENSG00000124383ENST00000244230p.S41Yc.122C>ASubstitution - Missense21750719
FAM98CENSG00000130244ENST00000252530p.Y225Sc.674A>CSubstitution - Missense21750719
SIDT1ENSG00000072858ENST00000264852p.?c.1263+5C>TUnknown21750719
SYNGAP1ENSG00000197283ENST00000418600p.E617Ec.1851G>ASubstitution - coding silent21750719
WRAP73ENSG00000116213ENST00000270708p.?c.923-9G>AUnknown21750719
NM_000828.2p.L23*c.68T>ASubstitution - Nonsense21750719
CCDC114ENSG00000105479ENST00000315396p.V264Gc.791T>GSubstitution - Missense21750719
PSG2ENSG00000242221ENST00000406487p.R304Hc.911G>ASubstitution - Missense21750719
SLX4ENSG00000188827ENST00000294008p.R1060Wc.3178C>TSubstitution - Missense21750719
BRS3ENSG00000102239ENST00000370648p.R352Qc.1055G>ASubstitution - Missense21750719
CYP4B1ENSG00000142973ENST00000271153p.A307Tc.919G>ASubstitution - Missense21750719
BLNKENSG00000095585ENST00000224337p.A158Sc.472G>TSubstitution - Missense21750719
NEURL1ENSG00000107954ENST00000369780p.H134Pc.401A>CSubstitution - Missense21750719
PTPN14ENSG00000152104ENST00000366956p.P796Pc.2388G>ASubstitution - coding silent21750719
LTN1ENSG00000198862ENST00000361371p.W735Cc.2205G>CSubstitution - Missense21750719
POMGNT1ENSG00000085998ENST00000371984p.V101Ic.301G>ASubstitution - Missense21750719
KRASENSG00000133703ENST00000311936p.G12Vc.35G>TSubstitution - Missense8426738
KRTAP10-4ENSG00000215454ENST00000400374p.D31Ac.92A>CSubstitution - Missense21750719
SAMD15ENSG00000100583ENST00000216471p.F540Ic.1618T>ASubstitution - Missense21750719
BTNL8ENSG00000113303ENST00000340184p.Y342Cc.1025A>GSubstitution - Missense21750719
RGPD2ENSG00000185304ENST00000398146p.A478Ac.1434C>TSubstitution - coding silent21750719
SCN1AENSG00000144285ENST00000375405p.E1795Ec.5385G>ASubstitution - coding silent21750719
SOCS3ENSG00000184557ENST00000330871p.R194Rc.582G>ASubstitution - coding silent21750719
OR11G2ENSG00000196832ENST00000357366p.G49Dc.146G>ASubstitution - Missense21750719
LCA5LENSG00000157578ENST00000358268p.E630Ec.1890G>ASubstitution - coding silent21750719
ENST00000393466p.V449Ic.1345G>ASubstitution - Missense21750719
ENST00000393466p.A321Ac.963C>TSubstitution - coding silent21750719
FANCIENSG00000140525ENST00000300027p.S939Sc.2817C>TSubstitution - coding silent21750719
OSBPL9ENSG00000117859ENST00000447887p.G469Gc.1407C>TSubstitution - coding silent21750719
PAPLNENSG00000100767ENST00000427855p.C120fs*1c.360delCDeletion - Frameshift21750719
PAPLNENSG00000100767ENST00000427855p.R928Gc.2782C>GSubstitution - Missense21750719
ORC4ENSG00000115947ENST00000264169p.?c.763-8C>TUnknown21750719
PI4KAENSG00000241973ENST00000572273p.P1071Pc.3213G>TSubstitution - coding silent21750719
GRM1ENSG00000152822ENST00000282753p.Y486*c.1458C>ASubstitution - Nonsense21750719
FRYENSG00000073910ENST00000380250p.E639Qc.1915G>CSubstitution - Missense21750719
ENSG00000005189ENST00000261377p.?c.139-3C>TUnknown21750719
GSDMCENSG00000147697ENST00000276708p.N386Nc.1158C>TSubstitution - coding silent21750719
CCDC30ENSG00000186409ENST00000340612p.R526*c.1576C>TSubstitution - Nonsense21750719
SHPRHENSG00000146414ENST00000438092p.D159Ac.476A>CSubstitution - Missense21750719
POLR2JENSG00000005075ENST00000292614p.K112Ec.334A>GSubstitution - Missense21750719
GLMNENSG00000174842ENST00000370360p.F255Fc.765C>TSubstitution - coding silent21750719
ENSG00000187607ENST00000421016p.S19Sc.57T>CSubstitution - coding silent21750719
HERC4ENSG00000148634ENST00000395198p.?c.778-3_778-2insTUnknown21750719
CDAN1ENSG00000140326ENST00000356231p.D232Dc.696C>TSubstitution - coding silent21750719
FLNCENSG00000128591ENST00000325888p.G1651Gc.4953T>GSubstitution - coding silent21750719
GGNBP2ENSG00000005955ENST00000304718p.T613Tc.1839G>ASubstitution - coding silent21750719
PBRM1ENSG00000163939ENST00000337303p.I493Ic.1479C>TSubstitution - coding silent21750719
NM_006343p.E831Qc.2491G>CSubstitution - Missense21750719
OR11A1ENSG00000204694ENST00000377149p.M80Tc.239T>CSubstitution - Missense21750719
XCR1ENSG00000173578ENST00000309285p.A156Tc.466G>ASubstitution - Missense21750719
EIF2DENSG00000143486ENST00000271764p.?c.422+5T>AUnknown21750719
TWSG1ENSG00000128791ENST00000262120p.P48Pc.144G>ASubstitution - coding silent21750719
BRD9ENSG00000028310ENST00000323510p.S241Sc.723C>TSubstitution - coding silent21750719
ABCA5ENSG00000154265ENST00000392676p.I1165Lc.3493A>CSubstitution - Missense21750719
LRRC27ENSG00000148814ENST00000368614p.P91Pc.273G>TSubstitution - coding silent21750719
OR2T12ENSG00000177201ENST00000317996p.E2fs*2c.5delADeletion - Frameshift21750719
ACCSLENSG00000205126ENST00000378832p.S54Sc.162G>CSubstitution - coding silent21750719
HACE1ENSG00000085382ENST00000262903p.?c.2443-5_2443-3delgttUnknown21750719
FCGBPENSG00000090920ENST00000221347p.S1766Sc.5298T>CSubstitution - coding silent21750719
PRKRAENSG00000180228ENST00000325748p.I226Nc.677T>ASubstitution - Missense21750719
ASMTLENSG00000169093ENST00000381317p.S166Sc.498C>TSubstitution - coding silent21750719
CNTN4ENSG00000144619ENST00000418658p.P900Sc.2698C>TSubstitution - Missense21750719
TRIM29ENSG00000137699ENST00000341846p.P487Pc.1461C>TSubstitution - coding silent21750719
PAPLNENSG00000100767ENST00000340738p.R901Gc.2701C>GSubstitution - Missense21750719
TEP1ENSG00000129566ENST00000262715p.H239Rc.716A>GSubstitution - Missense21750719
ENST00000368626p.G119Ac.356G>CSubstitution - Missense21750719
SPATA21ENSG00000187144ENST00000335496p.T23Tc.69G>ASubstitution - coding silent21750719
DLEC1ENSG00000008226ENST00000308059p.S1345Sc.4035G>ASubstitution - coding silent21750719
CYP2A7ENSG00000198077ENST00000301146p.F392Yc.1175T>ASubstitution - Missense21750719
MYH15ENSG00000144821ENST00000273353p.?c.1925-5G>TUnknown21750719
CCDC80ENSG00000091986ENST00000206423p.G194Gc.582T>ASubstitution - coding silent21750719
ENST00000393466p.I755Vc.2263A>GSubstitution - Missense21750719
COL6A2ENSG00000142173ENST00000300527p.L694Fc.2080C>TSubstitution - Missense21750719
SLC1A1ENSG00000106688ENST00000262352p.H41Hc.123C>TSubstitution - coding silent21750719
NM_017449p.A892fs*57c.2670delCDeletion - Frameshift21750719
UGT2B28ENSG00000135226ENST00000335568p.V196Lc.586G>CSubstitution - Missense21750719
PSG2ENSG00000242221ENST00000406487p.G118Rc.352G>CSubstitution - Missense21750719
ADHFE1ENSG00000147576ENST00000396623p.I289Ic.867C>TSubstitution - coding silent21750719
TBC1D32ENSG00000146350ENST00000398212p.P342Pc.1026G>CSubstitution - coding silent21750719
KIF17ENSG00000117245ENST00000247986p.V79Ic.235G>ASubstitution - Missense21750719
ZNF676ENSG00000196109ENST00000397121p.D89Yc.265G>TSubstitution - Missense21750719
PRSS3ENSG00000010438ENST00000379405p.S142Sc.426C>TSubstitution - coding silent21750719
C10orf129ENSG00000173124ENST00000327739p.R98Rc.294G>ASubstitution - coding silent21750719
CCDC33ENSG00000140481ENST00000398814p.P236Pc.708G>ASubstitution - coding silent21750719
MSLNLENSG00000162006ENST00000293892p.P104Pc.312G>ASubstitution - coding silent21750719
RAB11FIP4ENSG00000131242ENST00000325874p.V426Lc.1276G>TSubstitution - Missense21750719
COL5A1ENSG00000130635ENST00000371817p.G964Gc.2892C>TSubstitution - coding silent21750719
UBR1ENSG00000159459ENST00000290650p.E88Ec.264G>ASubstitution - coding silent21750719
NM_013364.2p.V289Mc.865G>ASubstitution - Missense21750719
PDE1AENSG00000115252ENST00000410103p.G392Ec.1175G>ASubstitution - Missense21750719
LCA5LENSG00000157578ENST00000380671p.T269Kc.806C>ASubstitution - Missense21750719
BRD3ENSG00000169925ENST00000303407p.A429Ac.1287G>ASubstitution - coding silent21750719
TYRENSG00000077498ENST00000263321p.K511Nc.1533G>CSubstitution - Missense21750719
SERPINA10ENSG00000140093ENST00000393096p.G215Gc.645G>ASubstitution - coding silent21750719
POLEENSG00000177084ENST00000320574p.?c.2865-3C>TUnknown21750719
GRHL3ENSG00000158055ENST00000236255p.P485Hc.1454C>ASubstitution - Missense21750719
NLNENSG00000123213ENST00000380985p.?c.1527+6deltUnknown21750719
FRYLENSG00000075539ENST00000503238p.S304Sc.912C>TSubstitution - coding silent21750719
DPY19L1ENSG00000173852ENST00000310974p.M479fs*66c.1435_1436delATDeletion - Frameshift21750719
OR5AC2ENSG00000196578ENST00000358642p.R22*c.64C>TSubstitution - Nonsense21750719
DYNC2LI1ENSG00000138036ENST00000260605p.?c.576+9T>CUnknown21750719
CPS1ENSG00000021826ENST00000233072p.C648Rc.1942T>CSubstitution - Missense21750719
C9orf3ENSG00000148120ENST00000297979p.E93Kc.277G>ASubstitution - Missense21750719
SHEENSG00000169291ENST00000304760p.H397Yc.1189C>TSubstitution - Missense21750719
C9orf3ENSG00000148120ENST00000375315p.E93Kc.277G>ASubstitution - Missense21750719
RAG2ENSG00000175097ENST00000311485p.V8Ic.22G>ASubstitution - Missense21750719
MPHOSPH10ENSG00000124383ENST00000244230p.N154Sc.461A>GSubstitution - Missense21750719
POTEDENSG00000166351ENST00000299443p.R66Hc.197G>ASubstitution - Missense21750719
GRM1ENSG00000152822ENST00000392299p.Y486*c.1458C>ASubstitution - Nonsense21750719
DCLK2ENSG00000170390ENST00000302176p.S705Sc.2115C>TSubstitution - coding silent21750719
ANKRD12ENSG00000101745ENST00000262126p.T736Ac.2206A>GSubstitution - Missense21750719
IFT172ENSG00000138002ENST00000260570p.?c.4540-6C>TUnknown21750719
OR8B12ENSG00000170953ENST00000306842p.C71Gc.211T>GSubstitution - Missense21750719
RPL38ENSG00000172809ENST00000311111p.P62Pc.186C>TSubstitution - coding silent21750719
BCAS4ENSG00000124243ENST00000371608p.?c.253-3C>TUnknown21750719
DLEC1ENSG00000008226ENST00000346219p.S1345Sc.4035G>ASubstitution - coding silent21750719
SPON2ENSG00000159674ENST00000290902p.L18Fc.52C>TSubstitution - Missense21750719
MYO5BENSG00000167306ENST00000285039p.M1056Lc.3166A>CSubstitution - Missense21750719
PRMT10ENSG00000164169ENST00000322396p.?c.954-4C>AUnknown21750719
MSLNLENSG00000162006ENST00000293892p.Q1052Qc.3156G>ASubstitution - coding silent21750719
SEH1LENSG00000085415ENST00000399892p.D46Nc.136G>ASubstitution - Missense21750719
GRHL3ENSG00000158055ENST00000236255p.?c.1062+9T>GUnknown21750719
LIG3ENSG00000005156ENST00000378526p.P366Pc.1098A>GSubstitution - coding silent21750719
CCDC183ENSG00000213213ENST00000338005p.T69Sc.205A>TSubstitution - Missense21750719
NINENSG00000100503ENST00000382041p.N1883Sc.5648A>GSubstitution - Missense21750719
MLLT10ENSG00000078403ENST00000307729p.G33Gc.99C>TSubstitution - coding silent21750719
EFCAB1ENSG00000034239ENST00000262103p.N131Nc.393C>TSubstitution - coding silent21750719
ABCA4ENSG00000198691ENST00000370225p.G863Ac.2588G>CSubstitution - Missense21750719
SLC4A5ENSG00000188687ENST00000377634p.R21delRc.60_62delGAGDeletion - In frame21750719
SEC23BENSG00000101310ENST00000377465p.?c.689+10C>TUnknown21750719
TCOF1ENSG00000070814ENST00000323668p.A350Ac.1050G>ASubstitution - coding silent21750719
GPR162ENSG00000250510ENST00000311268p.S255Ac.763T>GSubstitution - Missense21750719
CMA1ENSG00000092009ENST00000250378p.R151Kc.452G>ASubstitution - Missense21750719
BAHD1ENSG00000140320ENST00000416165p.T349Tc.1047A>CSubstitution - coding silent21750719
LCA5LENSG00000157578ENST00000380671p.E630Ec.1890G>ASubstitution - coding silent21750719
GRHL3ENSG00000158055ENST00000236255p.P461Pc.1383C>TSubstitution - coding silent21750719
TNCENSG00000041982ENST00000350763p.R448Gc.1342C>GSubstitution - Missense21750719
TTF1ENSG00000125482ENST00000334270p.S403Sc.1209T>CSubstitution - coding silent21750719
TTC16ENSG00000167094ENST00000373289p.P26Ac.76C>GSubstitution - Missense21750719
KCTD9ENSG00000104756ENST00000221200p.T329Nc.986C>ASubstitution - Missense21750719
TEKT2ENSG00000092850ENST00000207457p.T261Tc.783G>ASubstitution - coding silent21750719
DEPDC4ENSG00000166153ENST00000378244p.Q246Qc.738A>GSubstitution - coding silent21750719
NM_015899.1p.L391Lc.1173A>GSubstitution - coding silent21750719
YWHAEENSG00000108953ENST00000264335p.E251Ac.752A>CSubstitution - Missense21750719
PCNTENSG00000160299ENST00000359568p.?c.9274-3C>TUnknown21750719
NM_006255p.?c.363+10G>AUnknown21750719
PLXNA4ENSG00000221866ENST00000321063p.H1870Yc.5608C>TSubstitution - Missense21750719
IGF2ENSG00000167244ENST00000381395p.T86Pc.256A>CSubstitution - Missense21750719
KIAA0196ENSG00000164961ENST00000318410p.V1107Mc.3319G>ASubstitution - Missense21750719
PRMT7ENSG00000132600ENST00000339507p.F320Sc.959T>CSubstitution - Missense21750719
ARHGEF4ENSG00000136002ENST00000326016p.Q283Rc.848A>GSubstitution - Missense21750719
CERCAMENSG00000167123ENST00000372842p.C313Sc.938G>CSubstitution - Missense21750719
PRDM9ENSG00000164256ENST00000296682p.K168Nc.504A>TSubstitution - Missense21750719
SLC22A10ENSG00000184999ENST00000332793p.G207Cc.619G>TSubstitution - Missense21750719
TBC1D3BENSG00000224226ENST00000398801p.Y180Yc.540T>CSubstitution - coding silent21750719
SERPINF1ENSG00000132386ENST00000254722p.?c.643+6C>TUnknown21750719
GCENSG00000145321ENST00000273951p.P357Pc.1071G>ASubstitution - coding silent21750719
MAN1C1ENSG00000117643ENST00000374332p.I265Ic.795C>TSubstitution - coding silent21750719
KCNB2ENSG00000182674ENST00000523207p.H688Rc.2063A>GSubstitution - Missense21750719
ZNF599ENSG00000153896ENST00000329285p.Y339fs*1c.1014_1015delCTDeletion - Frameshift21750719
BPTFENSG00000171634ENST00000335221p.L1549Lc.4647G>ASubstitution - coding silent21750719
SMPDL3BENSG00000130768ENST00000373894p.P41Pc.123C>TSubstitution - coding silent21750719
ALMS1ENSG00000116127ENST00000264448p.T376Sc.1127C>GSubstitution - Missense21750719
STILENSG00000123473ENST00000337817p.L1096Fc.3286C>TSubstitution - Missense21750719
CSPG4ENSG00000173546ENST00000308508p.G475Rc.1423G>ASubstitution - Missense21750719
FSCBENSG00000189139ENST00000340446p.S5Sc.15C>ASubstitution - coding silent21750719
CKAP4ENSG00000136026ENST00000378026p.A342Ac.1026C>TSubstitution - coding silent21750719
GPRC6AENSG00000173612ENST00000310357p.C375Yc.1124G>ASubstitution - Missense21750719
ENSG00000167524ENST00000301037p.R59Wc.175C>TSubstitution - Missense21750719
LCE3DENSG00000163202ENST00000368787p.D72Dc.216C>TSubstitution - coding silent21750719
CCDC178ENSG00000166960ENST00000383096p.K529Kc.1587G>ASubstitution - coding silent21750719
ZFYVE28ENSG00000159733ENST00000290974p.P259Sc.775C>TSubstitution - Missense21750719
PLXNA4ENSG00000221866ENST00000321063p.R1615Mc.4844G>TSubstitution - Missense21750719
WDR48ENSG00000114742ENST00000302313p.K561Rc.1682A>GSubstitution - Missense21750719
AFF1ENSG00000172493ENST00000395146p.S881Pc.2641T>CSubstitution - Missense21750719
MAP1AENSG00000166963ENST00000300231p.D1482Nc.4444G>ASubstitution - Missense21750719
ALMS1ENSG00000116127ENST00000264448p.S524Pc.1570T>CSubstitution - Missense21750719
SAGE1ENSG00000181433ENST00000324447p.D826Ac.2477A>CSubstitution - Missense21750719
GBP7ENSG00000213512ENST00000294671p.R291Wc.871C>TSubstitution - Missense21750719
DNAJC22ENSG00000178401ENST00000549441p.G287Wc.859G>TSubstitution - Missense21750719
HINFPENSG00000172273ENST00000350777p.D351Dc.1053C>TSubstitution - coding silent21750719
IL7RENSG00000168685ENST00000303115p.I121Ic.363A>TSubstitution - coding silent21750719
CEACAM8ENSG00000124469ENST00000244336p.P142Tc.424C>ASubstitution - Missense21750719
WBP1LENSG00000166272ENST00000369889p.I174Ic.522C>TSubstitution - coding silent21750719
PGM3ENSG00000013375ENST00000513973p.?c.1243-3C>TUnknown21750719
AADATENSG00000109576ENST00000337664p.?c.655-12_655-9delaaccUnknown21750719
OR8J1ENSG00000172487ENST00000303039p.N70Nc.210T>CSubstitution - coding silent21750719
CCDC178ENSG00000166960ENST00000300227p.K529Kc.1587G>ASubstitution - coding silent21750719
FAM180AENSG00000189320ENST00000338588p.D122Nc.364G>ASubstitution - Missense21750719
BAI2ENSG00000121753ENST00000373658p.K680Kc.2040G>ASubstitution - coding silent21750719
PAPD7ENSG00000112941ENST00000230859p.?c.709+10C>GUnknown21750719
ENST00000393466p.P312Ac.934C>GSubstitution - Missense21750719
NEBLENSG00000078114ENST00000377122p.T891Tc.2673A>GSubstitution - coding silent21750719
FAM149AENSG00000109794ENST00000503432p.?c.1376-2A>TUnknown21750719
KCNT1ENSG00000107147ENST00000298480p.Q543Rc.1628A>GSubstitution - Missense21750719
SLC35G5ENSG00000177710ENST00000382435p.W103Rc.307T>CSubstitution - Missense21750719
ZNF804BENSG00000182348ENST00000333190p.P644Rc.1931C>GSubstitution - Missense21750719
DNAH3ENSG00000158486ENST00000261383p.R908Sc.2724G>CSubstitution - Missense21750719
FBXW10ENSG00000171931ENST00000395667p.T411Rc.1232C>GSubstitution - Missense21750719
AMER3ENSG00000178171ENST00000321420p.R197Qc.590G>ASubstitution - Missense21750719
PUM1ENSG00000134644ENST00000257075p.M340Lc.1018A>CSubstitution - Missense21750719
CHRM2ENSG00000181072ENST00000320658p.I39Ic.117C>TSubstitution - coding silent21750719
PSMB7ENSG00000136930ENST00000259457p.?c.62+2T>GUnknown21750719
DHX16ENSG00000204560ENST00000376442p.G6Gc.18T>GSubstitution - coding silent21750719
TBC1D3ENSG00000197681ENST00000537432p.Y180Yc.540T>CSubstitution - coding silent21750719
PBRM1ENSG00000163939ENST00000356770p.I461Ic.1383C>TSubstitution - coding silent21750719
ADD3ENSG00000148700ENST00000356080p.*707del*c.2119_2121delTAADeletion - In frame21750719
SYNDIG1LENSG00000183379ENST00000331628p.P108Ac.322C>GSubstitution - Missense21750719
ZNF700ENSG00000196757ENST00000254321p.Q596Qc.1788A>GSubstitution - coding silent21750719
KLF6ENSG00000067082ENST00000497571p.T122Tc.366G>ASubstitution - coding silent21750719
CERS3ENSG00000154227ENST00000284382p.R370Mc.1109G>TSubstitution - Missense21750719
PKN3ENSG00000160447ENST00000291906p.E195Ec.585G>ASubstitution - coding silent21750719
COL25A1ENSG00000188517ENST00000399132p.P469Pc.1407A>GSubstitution - coding silent21750719
ULBP3ENSG00000131019ENST00000367339p.A29Tc.85G>ASubstitution - Missense21750719
CPA5ENSG00000158525ENST00000393213p.P301Lc.902C>TSubstitution - Missense21750719
HEPACAMENSG00000165478ENST00000298251p.Q113Qc.339G>ASubstitution - coding silent21750719
GRM1ENSG00000152822ENST00000392299p.D208Dc.624C>TSubstitution - coding silent21750719
NM_058004.1p.P1071Pc.3213G>TSubstitution - coding silent21750719
ATICENSG00000138363ENST00000236959p.G481Gc.1443A>GSubstitution - coding silent21750719
SREBF2ENSG00000198911ENST00000361204p.G595Sc.1783G>ASubstitution - Missense21750719
GRM1ENSG00000152822ENST00000282753p.D208Dc.624C>TSubstitution - coding silent21750719
SYNE1ENSG00000131018ENST00000265368p.R5780Qc.17339G>ASubstitution - Missense21750719
STXBP2ENSG00000076944ENST00000221283p.Q250Hc.750G>CSubstitution - Missense21750719
FBXO22ENSG00000167196ENST00000308275p.K229Ec.685A>GSubstitution - Missense21750719
FZD10ENSG00000111432ENST00000229030p.N54Kc.162C>ASubstitution - Missense21750719
ENST00000393466p.P463Sc.1387C>TSubstitution - Missense21750719
CTBP2ENSG00000175029ENST00000309035p.H788Lc.2363A>TSubstitution - Missense21750719
LRRC37A2ENSG00000238083ENST00000333412p.V449Ic.1345G>ASubstitution - Missense21750719
HS6ST3ENSG00000185352ENST00000376705p.T156Tc.468G>TSubstitution - coding silent21750719
JAKMIP2ENSG00000176049ENST00000265272p.S202Sc.606G>ASubstitution - coding silent21750719
C3orf35ENSG00000198590ENST00000328376p.M1Lc.1A>CSubstitution - Missense21750719
ENST00000309178p.R98Qc.293G>ASubstitution - Missense21750719
PIK3CGENSG00000105851ENST00000440650p.T827Rc.2480C>GSubstitution - Missense21750719
QRICH2ENSG00000129646ENST00000262765p.R572Cc.1714C>TSubstitution - Missense21750719
FGFBP2ENSG00000137441ENST00000259989p.S132Sc.396C>TSubstitution - coding silent21750719
ZNF609ENSG00000180357ENST00000326648p.K947delKc.2839_2841delAAGDeletion - In frame21750719
FBXO44ENSG00000132879ENST00000376770p.R111Qc.332G>ASubstitution - Missense21750719
PRDX4ENSG00000123131ENST00000379341p.F115Fc.345C>TSubstitution - coding silent21750719
KRTAP20-1ENSG00000244624ENST00000334664p.Y8Fc.23A>TSubstitution - Missense21750719
ANKS6ENSG00000165138ENST00000353234p.E490Kc.1468G>ASubstitution - Missense21750719
NFYBENSG00000120837ENST00000240055p.?c.430-9C>TUnknown21750719
ENST00000393466p.H435Qc.1305C>GSubstitution - Missense21750719
OR8J3ENSG00000167822ENST00000301529p.M39Ic.117G>ASubstitution - Missense21750719
ZFHX3ENSG00000140836ENST00000268489p.P534Pc.1602C>TSubstitution - coding silent21750719
OSBPL9ENSG00000117859ENST00000361556p.G349Gc.1047C>TSubstitution - coding silent21750719
AQP6ENSG00000086159ENST00000315520p.N82Tc.245A>CSubstitution - Missense21750719
HEATR5BENSG00000008869ENST00000233099p.P1771Pc.5313C>TSubstitution - coding silent21750719
USH2AENSG00000042781ENST00000307340p.V4433Lc.13297G>TSubstitution - Missense21750719
PPP2R5EENSG00000154001ENST00000337537p.?c.681-6T>CUnknown21750719
DCCENSG00000187323ENST00000442544p.K1411Tc.4232A>CSubstitution - Missense21750719
LEFTY2ENSG00000143768ENST00000366820p.A358Vc.1073C>TSubstitution - Missense21750719
POMGNT1ENSG00000085998ENST00000371992p.V101Ic.301G>ASubstitution - Missense21750719
TEX13BENSG00000170925ENST00000302917p.G311Sc.931G>ASubstitution - Missense21750719
ERICH1ENSG00000104714ENST00000262109p.T219Ic.656C>TSubstitution - Missense21750719
ZFP82ENSG00000181007ENST00000392161p.?c.137-4G>AUnknown21750719
KIAA1614ENSG00000135835ENST00000367588p.R1118Rc.3354C>TSubstitution - coding silent21750719
PIGRENSG00000162896ENST00000356495p.S490Sc.1470G>ASubstitution - coding silent21750719
THEMISENSG00000172673ENST00000368248p.L449Pc.1346T>CSubstitution - Missense21750719
EEPD1ENSG00000122547ENST00000242108p.N316Tc.947A>CSubstitution - Missense21750719
DDOENSG00000203797ENST00000368924p.R181fs*2c.541delADeletion - Frameshift21750719
PLXNA4ENSG00000221866ENST00000321063p.R1615Mc.4844G>TSubstitution - Missense21750719
PSG4ENSG00000243137ENST00000405312p.V18Lc.52G>CSubstitution - Missense21750719
RBFOX1ENSG00000078328ENST00000311745p.P44Sc.130C>TSubstitution - Missense21750719
SYNE2ENSG00000054654ENST00000358025p.L5144Rc.15431T>GSubstitution - Missense21750719
MX1ENSG00000157601ENST00000398598p.Q606Qc.1818G>ASubstitution - coding silent21750719
NUP133ENSG00000069248ENST00000261396p.S399Fc.1196C>TSubstitution - Missense21750719
BCORENSG00000183337ENST00000397354p.T936Nc.2807C>ASubstitution - Missense21750719
NM_032217.3p.L912Pc.2735T>CSubstitution - Missense21750719
RBM12BENSG00000183808ENST00000399300p.P815Sc.2443C>TSubstitution - Missense21750719
DCCENSG00000187323ENST00000442544p.?c.3130+6A>CUnknown21750719
MIS18BP1ENSG00000129534ENST00000310806p.R510Qc.1529G>ASubstitution - Missense21750719
NSRP1ENSG00000126653ENST00000247026p.D342Nc.1024G>ASubstitution - Missense21750719
ARGLU1ENSG00000134884ENST00000400198p.A186Tc.556G>ASubstitution - Missense21750719
FCGBPENSG00000090920ENST00000221347p.R4909Hc.14726G>ASubstitution - Missense21750719
KPTNENSG00000118162ENST00000338134p.P186Pc.558C>GSubstitution - coding silent21750719
PDE1AENSG00000115252ENST00000435564p.G392Ec.1175G>ASubstitution - Missense21750719
TBC1D3CENSG00000234972ENST00000457979p.Y180Yc.540T>CSubstitution - coding silent21750719
C17orf98ENSG00000214556ENST00000398575p.Q47Rc.140A>GSubstitution - Missense21750719
TRAPPC2LENSG00000167515ENST00000301021p.S44Sc.132C>TSubstitution - coding silent21750719
SERPING1ENSG00000149131ENST00000278407p.V250Dc.749T>ASubstitution - Missense21750719
LRRC37A2ENSG00000238083ENST00000333412p.P312Ac.934C>GSubstitution - Missense21750719
DARS2ENSG00000117593ENST00000361951p.?c.492+2T>CUnknown21750719
GTF3C2ENSG00000115207ENST00000264720p.?c.1877+9T>AUnknown21750719
SCN10AENSG00000185313ENST00000449082p.Y1677fs*21c.5028delCDeletion - Frameshift21750719
POMKENSG00000185900ENST00000331373p.C244Cc.732C>TSubstitution - coding silent21750719
SLC25A32ENSG00000164933ENST00000297578p.G276Sc.826G>ASubstitution - Missense21750719
CD109ENSG00000156535ENST00000287097p.S883Sc.2649A>GSubstitution - coding silent21750719
MC2RENSG00000185231ENST00000399821p.T179Tc.537G>ASubstitution - coding silent21750719
ENST00000449000p.G118Rc.352G>CSubstitution - Missense21750719
HLA-GENSG00000204632ENST00000360323p.L154fs*60c.459delCDeletion - Frameshift21750719
ENST00000373926p.Q75Ec.223C>GSubstitution - Missense21750719
VANGL2ENSG00000162738ENST00000368061p.H281Rc.842A>GSubstitution - Missense21750719
DDIT4LENSG00000145358ENST00000273990p.K180Rc.539A>GSubstitution - Missense21750719
BRCA2ENSG00000139618ENST00000544455p.S1982fs*22c.5946delTDeletion - Frameshift21750719
GALNTL6ENSG00000174473ENST00000506823p.A40Ac.120G>ASubstitution - coding silent21750719
LRRC37A2ENSG00000238083ENST00000333412p.P463Sc.1387C>TSubstitution - Missense21750719
TPRENSG00000047410ENST00000367478p.V779Ic.2335G>ASubstitution - Missense21750719
TREM2ENSG00000095970ENST00000373113p.R62Hc.185G>ASubstitution - Missense21750719
NBASENSG00000151779ENST00000281513p.R1131Hc.3392G>ASubstitution - Missense21750719
ANKRD26ENSG00000107890ENST00000376087p.E533delEc.1596_1598delAGADeletion - In frame21750719
PAPLNENSG00000100767ENST00000340738p.R1166Qc.3497G>ASubstitution - Missense21750719
BUD13ENSG00000137656ENST00000260210p.N472Sc.1415A>GSubstitution - Missense21750719
PLXNB1ENSG00000164050ENST00000296440p.V1811Gc.5432T>GSubstitution - Missense21750719
TMEM194AENSG00000166881ENST00000300128p.?c.253-10_253-9insTUnknown21750719
WNT8BENSG00000075290ENST00000343737p.?c.69-10_69-9insCUnknown21750719
SYNGAP1ENSG00000197283ENST00000293748p.E617Ec.1851G>ASubstitution - coding silent21750719
NBPF14ENSG00000122497ENST00000369219p.V897Lc.2689G>TSubstitution - Missense21750719
SARDHENSG00000123453ENST00000371872p.V181Vc.543G>TSubstitution - coding silent21750719
ELL2ENSG00000118985ENST00000237853p.S197Gc.589A>GSubstitution - Missense21750719
OR5P2ENSG00000183303ENST00000329434p.F102Lc.306C>GSubstitution - Missense21750719
DCCENSG00000187323ENST00000442544p.L1042Mc.3124C>ASubstitution - Missense21750719
TRIM16ENSG00000221926ENST00000578237p.V418Gc.1253T>GSubstitution - Missense21750719
LRRC7ENSG00000033122ENST00000035383p.V1027fs*5c.3071_3072insAInsertion - Frameshift21750719
YWHAEENSG00000108953ENST00000264335p.E251Ac.752A>CSubstitution - Missense21750719
FRRS1ENSG00000156869ENST00000287474p.N22Nc.66T>CSubstitution - coding silent21750719
RASSF2ENSG00000101265ENST00000379400p.T238Tc.714C>TSubstitution - coding silent21750719
EIF4G2ENSG00000110321ENST00000339995p.R360Sc.1080G>TSubstitution - Missense21750719
TMPRSS11FENSG00000198092ENST00000356291p.?c.1016-7G>TUnknown21750719
MCHR1ENSG00000128285ENST00000249016p.A295Ac.885C>TSubstitution - coding silent21750719
OSBPL9ENSG00000117859ENST00000447887p.G469Gc.1407C>TSubstitution - coding silent21750719
NF1ENSG00000196712ENST00000358273p.Q282Qc.846G>ASubstitution - coding silent21750719
DNAJC22ENSG00000178401ENST00000395069p.G287Wc.859G>TSubstitution - Missense21750719
CD163ENSG00000177575ENST00000359156p.N892Nc.2676T>CSubstitution - coding silent21750719
ACP5ENSG00000102575ENST00000218758p.F75Fc.225C>TSubstitution - coding silent21750719
SMAD4ENSG00000141646ENST00000342988p.S343*c.1028C>GSubstitution - Nonsense21750719
DNAH3ENSG00000158486ENST00000261383p.R908Sc.2724G>CSubstitution - Missense21750719
PAPLNENSG00000100767ENST00000427855p.R1193Qc.3578G>ASubstitution - Missense21750719
BRCA2ENSG00000139618ENST00000380152p.S1982fs*22c.5946delTDeletion - Frameshift21750719
NM_002311.2p.P279Pc.837A>GSubstitution - coding silent21750719
RBFOX1ENSG00000078328ENST00000355637p.P44Sc.130C>TSubstitution - Missense21750719
SPANXCENSG00000198573ENST00000358993p.G8Sc.22G>ASubstitution - Missense21750719
TGM3ENSG00000125780ENST00000381458p.A203Tc.607G>ASubstitution - Missense21750719
UBAC1ENSG00000130560ENST00000371756p.A321Tc.961G>ASubstitution - Missense21750719
THAP9ENSG00000168152ENST00000302236p.S155Sc.465C>GSubstitution - coding silent21750719
KRT33BENSG00000131738ENST00000251646p.G33Rc.97G>ASubstitution - Missense21750719
COL6A2ENSG00000142173ENST00000357838p.L694Fc.2080C>TSubstitution - Missense21750719
DNMT1ENSG00000130816ENST00000340748p.?c.996-9_996-8delttUnknown21750719
ENST00000215591p.H844Hc.2532C>TSubstitution - coding silent21750719
SLFN13ENSG00000154760ENST00000285013p.H389Lc.1166A>TSubstitution - Missense21750719
ARMC7ENSG00000125449ENST00000245543p.P128Pc.384G>ASubstitution - coding silent21750719
ZSCAN2ENSG00000176371ENST00000448803p.H196Pc.587A>CSubstitution - Missense21750719
EFCAB4BENSG00000130038ENST00000252322p.L218Qc.653T>ASubstitution - Missense21750719
PON1ENSG00000005421ENST00000222381p.M127Rc.380T>GSubstitution - Missense21750719
ZNF429ENSG00000197013ENST00000358491p.H527fs*>148c.1580delADeletion - Frameshift21750719
SLC22A17ENSG00000092096ENST00000206544p.G363Cc.1087G>TSubstitution - Missense21750719
CCDC9ENSG00000105321ENST00000221922p.R128Hc.383G>ASubstitution - Missense21750719
C9orf72ENSG00000147894ENST00000380003p.F468Fc.1404C>TSubstitution - coding silent21750719
C14orf37ENSG00000139971ENST00000267485p.Q449Qc.1347A>GSubstitution - coding silent21750719
SCARA3ENSG00000168077ENST00000301904p.V473Mc.1417G>ASubstitution - Missense21750719
LRP4ENSG00000134569ENST00000378623p.P1251Pc.3753G>ASubstitution - coding silent21750719
LRP4ENSG00000134569ENST00000378623p.H596Rc.1787A>GSubstitution - Missense21750719
NEO1ENSG00000067141ENST00000261908p.I329Vc.985A>GSubstitution - Missense21750719
DDIT4LENSG00000145358ENST00000273990p.K180fs*5c.540delADeletion - Frameshift21750719
COL4A4ENSG00000081052ENST00000396625p.?c.931-1G>AUnknown21750719
ISCA1ENSG00000135070ENST00000375991p.N116Nc.348C>TSubstitution - coding silent21750719
BPIFB6ENSG00000167104ENST00000349552p.A349Tc.1045G>ASubstitution - Missense21750719
FBXO25ENSG00000147364ENST00000276326p.I41fs*8c.121_122delATDeletion - Frameshift21750719
RPS3AENSG00000145425ENST00000274065p.Q157Pc.470A>CSubstitution - Missense21750719
GPC5ENSG00000179399ENST00000377067p.P159Tc.475C>ASubstitution - Missense21750719
TRAF6ENSG00000175104ENST00000526995p.S438Cc.1313C>GSubstitution - Missense21750719
LYSTENSG00000143669ENST00000389793p.E2161Ac.6482A>CSubstitution - Missense21750719
ZCCHC4ENSG00000168228ENST00000302874p.?c.247-11_247-10delctUnknown21750719
DCLK2ENSG00000170390ENST00000296550p.S688Sc.2064C>TSubstitution - coding silent21750719
TMEM194AENSG00000166881ENST00000379391p.?c.253-10_253-9insTUnknown21750719
MGPENSG00000111341ENST00000539261p.?c.62-9_62-8insTUnknown21750719
SYBUENSG00000147642ENST00000399066p.P221Tc.661C>ASubstitution - Missense21750719
ENST00000449000p.V18Lc.52G>CSubstitution - Missense21750719
PAPLNENSG00000100767ENST00000340738p.C120fs*1c.360delCDeletion - Frameshift21750719
WDHD1ENSG00000198554ENST00000360586p.N1029Nc.3087T>CSubstitution - coding silent21750719
PSKH1ENSG00000159792ENST00000291041p.L212Lc.636G>ASubstitution - coding silent21750719
RHOT2ENSG00000140983ENST00000315082p.P586Lc.1757C>TSubstitution - Missense21750719
FLNCENSG00000128591ENST00000325888p.I714Ic.2142C>TSubstitution - coding silent21750719
HHIPENSG00000164161ENST00000296575p.L429Lc.1287C>TSubstitution - coding silent21750719
PLAC8L1ENSG00000173261ENST00000311450p.R10Rc.30G>ASubstitution - coding silent21750719
DCDC1ENSG00000170959ENST00000452803p.L224Lc.672C>GSubstitution - coding silent21750719
ARMC7ENSG00000125449ENST00000245543p.R130Hc.389G>ASubstitution - Missense21750719
GOLM1ENSG00000135052ENST00000388712p.G292Ac.875G>CSubstitution - Missense21750719
SYNE1ENSG00000131018ENST00000265368p.R5780Qc.17339G>ASubstitution - Missense21750719
MLLT10ENSG00000078403ENST00000377100p.G33Gc.99C>TSubstitution - coding silent21750719
ZDHHC4ENSG00000136247ENST00000396706p.C151Rc.451T>CSubstitution - Missense21750719
NANOGENSG00000111704ENST00000229307p.K20Rc.59A>GSubstitution - Missense21750719
ENST00000373468p.E713Ec.2139G>ASubstitution - coding silent21750719
SLC45A1ENSG00000162426ENST00000289877p.G410Sc.1228G>ASubstitution - Missense21750719
ZNF804BENSG00000182348ENST00000333190p.D179Hc.535G>CSubstitution - Missense21750719
KCNT2ENSG00000162687ENST00000294725p.T656Kc.1967C>ASubstitution - Missense21750719
SPTBENSG00000070182ENST00000389722p.R840Hc.2519G>ASubstitution - Missense21750719
FAM111BENSG00000189057ENST00000343597p.Y132fs*6c.392delTDeletion - Frameshift21750719
ATMENSG00000149311ENST00000278616p.R1585Sc.4755A>CSubstitution - Missense21750719
CNR2ENSG00000188822ENST00000374472p.A280Vc.839C>TSubstitution - Missense21750719
COL6A2ENSG00000142173ENST00000310645p.L694Fc.2080C>TSubstitution - Missense21750719
ASAP1ENSG00000153317ENST00000357668p.?c.823-6deltUnknown21750719
PPEF2ENSG00000156194ENST00000286719p.R654*c.1960C>TSubstitution - Nonsense21750719
LGR5ENSG00000139292ENST00000266674p.E59Ec.177G>ASubstitution - coding silent21750719
PSMD12ENSG00000197170ENST00000356126p.?c.169-7C>GUnknown21750719
CNR2ENSG00000188822ENST00000374472p.A280Vc.839C>TSubstitution - Missense21750719
NSMFENSG00000165802ENST00000371472p.E390Vc.1169A>TSubstitution - Missense21750719
ENST00000336186p.R110*c.328C>TSubstitution - Nonsense21750719
SU_SgK494p.R98Wc.292C>TSubstitution - Missense21750719
BAI2ENSG00000121753ENST00000373658p.L139Vc.415T>GSubstitution - Missense21750719
PTPDC1ENSG00000158079ENST00000375360p.?c.335+3A>GUnknown21750719
BPTFENSG00000171634ENST00000306378p.N1312Nc.3936T>CSubstitution - coding silent21750719
OR4K17ENSG00000176230ENST00000315543p.I243Ic.729T>ASubstitution - coding silent21750719
ETS2ENSG00000157557ENST00000360214p.S228Sc.684C>TSubstitution - coding silent21750719
ADAMTS2ENSG00000087116ENST00000251582p.I330Nc.989T>ASubstitution - Missense21750719
GRM3ENSG00000198822ENST00000361669p.L648Lc.1942C>TSubstitution - coding silent21750719
PTPDC1ENSG00000158079ENST00000288976p.?c.491+3A>GUnknown21750719
TTYH2ENSG00000141540ENST00000269346p.R237Cc.709C>TSubstitution - Missense21750719
CCDC114ENSG00000105479ENST00000315396p.V57Gc.170T>GSubstitution - Missense21750719
ABHD15ENSG00000168792ENST00000307201p.R413Qc.1238G>ASubstitution - Missense21750719
ABHD16AENSG00000204427ENST00000395952p.V226Lc.676G>TSubstitution - Missense21750719
WNT8BENSG00000075290ENST00000343737p.?c.69-10T>CUnknown21750719
PRSS3ENSG00000010438ENST00000361005p.S199Sc.597C>TSubstitution - coding silent21750719
VAV2ENSG00000160293ENST00000406606p.A121Ac.363G>ASubstitution - coding silent21750719
ADAMTS2ENSG00000087116ENST00000251582p.?c.2291-8A>GUnknown21750719
BCAS4ENSG00000124243ENST00000358791p.?c.253-3C>TUnknown21750719
CLIC5ENSG00000112782ENST00000339561p.R172Qc.515G>ASubstitution - Missense21750719
SPATA21ENSG00000187144ENST00000335496p.K361_L362insKc.1083_1084insAAGInsertion - In frame21750719
CDKN2AENSG00000147889ENST00000304494p.?c.151_457del307Unknown8640773
MAP2K4ENSG00000065559ENST00000353533p.E221*c.661G>TSubstitution - Nonsense9331070
CDKN2AENSG00000147889ENST00000304494p.?c.1_457del457Unknown7726912
TNFRSF21ENSG00000146072ENST00000296861p.T291Ic.872C>TSubstitution - Missense21750719
HLA-DQB1ENSG00000179344ENST00000399084p.R199Hc.596G>ASubstitution - Missense21750719
FAM228AENSG00000186453ENST00000295150p.?c.162+5G>AUnknown21750719
NKD2ENSG00000145506ENST00000296849p.M144Kc.431T>ASubstitution - Missense21750719
TAS1R2ENSG00000179002ENST00000375371p.L776Lc.2328C>ASubstitution - coding silent21750719
MRAP2ENSG00000135324ENST00000257776p.?c.127+7T>GUnknown21750719
GRIA3ENSG00000125675ENST00000264357p.L23*c.68T>ASubstitution - Nonsense21750719
NCLENSG00000115053ENST00000322723p.?c.1706-10_1706-9insTUnknown21750719
DEPDC1BENSG00000035499ENST00000265036p.V382Vc.1146A>CSubstitution - coding silent21750719
BRD9ENSG00000028310ENST00000467963p.S337Sc.1011C>TSubstitution - coding silent21750719
MKI67ENSG00000148773ENST00000368654p.D2579Vc.7736A>TSubstitution - Missense21750719
BCAS4ENSG00000124243ENST00000358791p.?c.253-3C>TUnknown21750719
NSMAFENSG00000035681ENST00000038176p.?c.150-5C>TUnknown21750719
TET1ENSG00000138336ENST00000373644p.A1738Ac.5214A>CSubstitution - coding silent21750719
KRT31ENSG00000094796ENST00000251645p.C100Rc.298T>CSubstitution - Missense21750719
UPK1BENSG00000114638ENST00000264234p.A90Vc.269C>TSubstitution - Missense21750719
MAP2K4ENSG00000065559ENST00000353533p.E221*c.661G>TSubstitution - Nonsense21750719
FAM155BENSG00000130054ENST00000252338p.T201Tc.603C>TSubstitution - coding silent21750719
UBN2ENSG00000157741ENST00000288561p.G1018Vc.3053G>TSubstitution - Missense21750719
KIF21BENSG00000116852ENST00000332129p.?c.4576-3C>TUnknown21750719
DMP1ENSG00000152592ENST00000339673p.?c.55-3T>GUnknown21750719
XRCC6ENSG00000196419ENST00000360079p.?c.960+10G>AUnknown21750719
MYH15ENSG00000144821ENST00000273353p.?c.1925-6_1925-5insTUnknown21750719
LCA5LENSG00000157578ENST00000358268p.T269Kc.806C>ASubstitution - Missense21750719
BPTFENSG00000171634ENST00000306378p.L1423Lc.4269G>ASubstitution - coding silent21750719
CDH8ENSG00000150394ENST00000577390p.E551Qc.1651G>CSubstitution - Missense21750719
PKP2ENSG00000057294ENST00000070846p.?c.1689-8_1689-7insTUnknown21750719
SEL1LENSG00000071537ENST00000336735p.?c.1484-8_1484-7insTUnknown21750719
CFHR5ENSG00000134389ENST00000256785p.V379Lc.1135G>CSubstitution - Missense21750719
KCNC1ENSG00000129159ENST00000379472p.H43Pc.128A>CSubstitution - Missense21750719
C18orf25ENSG00000152242ENST00000282059p.S313Ac.937T>GSubstitution - Missense21750719