Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | Called |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
AARD | - | - | - | - | 3 | Gain | - |
AASDHPPT | - | - | - | - | 1 | Loss | - |
ABAT | p.A304T | Missense | SNP | 0.359 | 2 | - | - |
ABCA5 | p.A1145V | Missense | SNP | 0.433 | 2 | - | - |
ABCA6 | p.W339* | Nonsense | SNP | 0.506 | 2 | - | - |
ABCA7 | p.X194_splice | Splice_Site | SNP | 1.000 | 2 | - | - |
ABCB1 | p.R1279C | Missense | SNP | 0.558 | 2 | - | - |
ABCC10 | p.G944Wfs*88 | Frame_Shift_Ins | INS | 0.328 | 2 | - | - |
ABCC11 | p.S1075F | Missense | SNP | 0.716 | 2 | - | - |
ABCC12 | p.M401R | Missense | SNP | 0.547 | 2 | - | - |
ABCC3 | p.P623S | Missense | SNP | 0.421 | 2 | - | - |
ABCC4 | - | - | - | - | 3 | Gain | - |
ABCC5 | p.S1171F | Missense | SNP | 0.320 | 2 | - | - |
ABCC8 | p.I1377T p.G561S | Missense Missense | SNP SNP | 0.197 0.408 | 2 | - | - |
ABCC9 | p.E668D | Missense | SNP | 0.498 | 2 | - | - |
ABCG1 | p.A539T | Missense | SNP | 0.473 | 2 | - | - |
ABCG4 | - | - | - | - | 1 | Loss | - |
ABHD13 | - | - | - | - | 3 | Gain | - |
ABHD14A | - | - | - | - | 1 | Loss | - |
ABHD14A-ACY1 | - | - | - | - | 1 | Loss | - |
ABHD14B | - | - | - | - | 1 | Loss | - |
ABHD3 | p.V201A | Missense | SNP | 0.469 | 2 | - | - |
ABHD5 | - | - | - | - | 1 | Loss | - |
ABHD6 | - | - | - | - | 1 | Loss | - |
ABLIM2 | p.D120Tfs*3 | Frame_Shift_Del | DEL | 0.421 | 2 | - | - |
ABRA | - | - | - | - | 3 | Gain | - |
AC001226.2 | - | - | - | - | 3 | Gain | - |
AC006059.2 | - | - | - | - | 1 | Loss | - |
AC006254.1 | - | - | - | - | 1 | Loss | - |
AC009879.2 | - | - | - | - | 3 | Gain | - |
AC009879.3 | - | - | - | - | 3 | Gain | - |
AC012213.5 | - | - | - | - | 3 | Gain | - |
AC022384.1 | - | - | - | - | 1 | Loss | - |
AC022826.2 | - | - | - | - | 3 | Gain | - |
AC036214.3 | - | - | - | - | 3 | Gain | - |
AC037459.1 | - | - | - | - | 1 | Loss | - |
AC090004.1 | - | - | - | - | 1 | Loss | - |
AC091167.1 | - | - | - | - | ND | ND | AC091167.1--LAMC2 |
AC092042.3 | - | - | - | - | 1 | Loss | - |
AC093668.2 | - | - | - | - | 1 | Loss | - |
AC093668.3 | - | - | - | - | 1 | Loss | - |
AC096887.1 | - | - | - | - | 1 | Loss | - |
AC097634.4 | - | - | - | - | 1 | Loss | - |
AC097636.1 | - | - | - | - | 1 | Loss | - |
AC097637.1 | - | - | - | - | 1 | Loss | - |
AC098650.1 | - | - | - | - | 1 | Loss | - |
AC100868.1 | - | - | - | - | 3 | Gain | - |
AC104304.1 | - | - | - | - | 1 | Loss | - |
AC104452.1 | - | - | - | - | 1 | Loss | - |
AC105052.1 | - | - | - | - | 1 | Loss | - |
AC105052.3 | - | - | - | - | 1 | Loss | - |
AC107959.5 | - | - | - | - | 1 | Loss | - |
AC109583.3 | - | - | - | - | 1 | Loss | - |
AC110275.1 | - | - | - | - | 1 | Loss | - |
AC126283.2 | - | - | - | - | 3 | Gain | - |
AC138647.1 | - | - | - | - | 3 | Gain | - |
AC138696.1 | - | - | - | - | 3 | Gain | - |
AC144573.1 | - | - | - | - | 1 | Loss | - |
ACAA1 | - | - | - | - | 1 | Loss | - |
ACACA | p.P663H | Missense | SNP | 0.414 | 2 | - | - |
ACAD10 | p.L102Yfs*12 p.R588C p.G896W | Frame_Shift_Del Missense Missense | DEL SNP SNP | 0.412 0.464 0.506 | 2 | - | - |
ACAD8 | - | - | - | - | 1 | Loss | - |
ACAN | p.P36L p.G1870E | Missense Missense | SNP SNP | 0.460 0.505 | 2 | - | - |
ACAT1 | - | - | - | - | 1 | Loss | - |
ACBD7 | - | - | - | - | 3 | Gain | - |
ACER2 | - | - | - | - | 1 | Loss | - |
ACKR2 | - | - | - | - | 1 | Loss | - |
ACMSD | p.K19Rfs*22 | Frame_Shift_Del | DEL | 0.566 | 2 | - | - |
ACO1 | - | - | - | - | 1 | Loss | - |
ACOD1 | - | - | - | - | 3 | Gain | - |
ACOT12 | p.R457Q | Missense | SNP | 0.520 | 2 | - | - |
ACOX2 | - | - | - | - | 1 | Loss | - |
ACRV1 | - | - | - | - | 1 | Loss | - |
ACSM2A | p.E347K | Missense | SNP | 0.500 | 2 | - | - |
ACSM3 | p.E564K | Missense | SNP | 0.596 | 2 | - | - |
ACSS2 | p.R202Q p.F507I | Missense Missense | SNP SNP | 0.393 0.454 | 2 | - | - |
ACTC1 | p.L348M p.W342* | Missense Nonsense | SNP SNP | 0.602 0.414 | 2 | - | - |
ACTN3 | p.E558K | Missense | SNP | 0.463 | 2 | - | - |
ACTN4 | p.D874Tfs*44 | Frame_Shift_Del | DEL | 0.475 | 2 | - | - |
ACTR5 | p.P266S | Missense | SNP | 0.503 | 2 | - | - |
ACTR8 | - | - | - | - | 1 | Loss | - |
ACVR2B | - | - | - | - | 1 | Loss | - |
ACY1 | - | - | - | - | 1 | Loss | - |
ADAL | p.R61K p.G204E | Missense Missense | SNP SNP | 0.457 0.387 | 2 | - | - |
ADAM12 | p.G435E | Missense | SNP | 0.496 | 2 | - | - |
ADAM18 | - | - | - | - | 1 | Loss | - |
ADAM2 | - | - | - | - | 1 | Loss | - |
ADAM28 | - | - | - | - | 1 | Loss | - |
ADAM29 | p.S115F p.R311C | Missense Missense | SNP SNP | 0.544 0.490 | 2 | - | - |
ADAM32 | - | - | - | - | 1 | Loss | - |
ADAM7 | - | - | - | - | 1 | Loss | - |
ADAM9 | - | - | - | - | 1 | Loss | - |
ADAMDEC1 | - | - | - | - | 1 | Loss | - |
ADAMTS10 | p.Q930* | Nonsense | SNP | 0.472 | 2 | - | - |
ADAMTS12 | - | - | - | - | 4 | Gain | - |
ADAMTS15 | - | - | - | - | 1 | Loss | - |
ADAMTS16 | - | - | - | - | 4 | Gain | - |
ADAMTS18 | p.C1139Y | Missense | SNP | 0.515 | 2 | - | - |
ADAMTS3 | p.E912K | Missense | SNP | 0.423 | 2 | - | - |
ADAMTS5 | p.Q768* p.F589S | Nonsense Missense | SNP SNP | 0.991 0.354 | 2 | - | - |
ADAMTS6 | p.H22Y | Missense | SNP | 0.477 | 2 | - | - |
ADAMTS8 | - | - | - | - | 1 | Loss | - |
ADAMTS9 | - | - | - | - | 1 | Loss | - |
ADAMTSL1 | - | - | - | - | 1 | Loss | - |
ADAMTSL2 | p.D564G p.E621K | Missense Missense | SNP SNP | 0.398 0.494 | 2 | - | - |
ADARB2 | - | - | - | - | 3 | Gain | - |
ADCK5 | - | - | - | - | 3 | Gain | - |
ADCY10 | p.E1490Gfs*53 | Frame_Shift_Ins | INS | 0.322 | 2 | - | - |
ADCY2 | - | - | - | - | 4 | Gain | - |
ADCY7 | p.R206Q | Missense | SNP | 0.457 | 2 | - | - |
ADCY8 | p.L650F | Missense | SNP | 0.240 | 3 | Gain | - |
ADGRA1 | p.P126S | Missense | SNP | 0.515 | 2 | - | - |
ADGRA2 | - | - | - | - | 1 | Loss | - |
ADGRA3 | p.P1087S | Missense | SNP | 0.525 | 2 | - | - |
ADGRB1 | - | - | - | - | 3 | Gain | - |
ADGRB3 | p.S13F p.L1200F p.R1452W | Missense Missense Missense | SNP SNP SNP | 0.452 0.600 0.401 | 2 | - | - |
ADGRE1 | p.I333T | Missense | SNP | 0.515 | 2 | - | - |
ADGRF5 | p.D495N | Missense | SNP | 0.491 | 2 | - | - |
ADGRG4 | p.S1689F | Missense | SNP | 1.000 | ND | ND | - |
ADGRL1 | p.P1309Lfs*224 | Frame_Shift_Del | DEL | 0.433 | 2 | - | - |
ADGRV1 | p.P2024S | Missense | SNP | 0.388 | 2 | - | - |
ADH1B | p.R313H | Missense | SNP | 0.573 | 2 | - | - |
ADHFE1 | - | - | - | - | 3 | Gain | - |
ADPRHL1 | - | - | - | - | 3 | Gain | - |
ADRA1A | - | - | - | - | 1 | Loss | - |
ADRB3 | - | - | - | - | 1 | Loss | - |
AEBP2 | p.P36L | Missense | SNP | 0.440 | 2 | - | - |
AFF2 | p.K629Nfs*126 | Frame_Shift_Del | DEL | 0.494 | ND | ND | - |
AFM | p.L16Ffs*3 p.T82M | Frame_Shift_Ins Missense | INS SNP | 0.295 0.072 | 2 | - | - |
AGAP14P | p.T407A | Missense | SNP | 0.517 | ND | ND | - |
AGO2 | - | - | - | - | 3 | Gain | - |
AGPAT5 | - | - | - | - | 1 | Loss | - |
AGTRAP | p.P16S | Missense | SNP | 0.491 | 2 | - | - |
AGXT2 | - | - | - | - | 4 | Gain | - |
AHI1 | p.E76_T78delinsA | In_Frame_Del | DEL | 0.315 | 2 | - | - |
AHNAK | - | - | - | - | 2 | - | AL139099.4--AHNAK |
AHRR | - | - | - | - | 3 | Gain | - |
AIM1L | p.R1181H | Missense | SNP | 0.391 | ND | ND | - |
AIP | p.T231M | Missense | SNP | 0.508 | 2 | - | - |
AK3 | - | - | - | - | 1 | Loss | - |
AK7 | p.P679L | Missense | SNP | 0.483 | 2 | - | - |
AK8 | p.P479S | Missense | SNP | 1.000 | 2 | - | - |
AKAP11 | - | - | - | - | 3 | Gain | - |
AKAP6 | p.L11* p.G1270Dfs*36 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.432 0.106 | 2 | - | - |
AKAP7 | p.K79Rfs*21 | Frame_Shift_Del | DEL | 0.375 | 2 | - | - |
AKNA | p.G844C | Missense | SNP | 0.299 | 2 | - | - |
AKR1C1 | - | - | - | - | 3 | Gain | - |
AKR1C2 | - | - | - | - | 3 | Gain | - |
AKR1C3 | - | - | - | - | 3 | Gain | - |
AKR1C4 | - | - | - | - | 3 | Gain | - |
AKR1C8P | - | - | - | - | 3 | Gain | - |
AKR1E2 | - | - | - | - | 3 | Gain | - |
AL035078.4 | - | - | - | - | 3 | Gain | - |
AL133410.3 | - | - | - | - | 1 | Loss | - |
AL138752.2 | - | - | - | - | 1 | Loss | - |
AL139099.4 | - | - | - | - | ND | ND | AL139099.4--AHNAK |
AL157392.5 | - | - | - | - | 3 | Gain | - |
AL162231.1 | - | - | - | - | 1 | Loss | - |
AL162231.3 | - | - | - | - | 1 | Loss | - |
AL162377.3 | - | - | - | - | 3 | Gain | - |
AL355075.4 | - | - | - | - | ND | ND | AL355075.4--SNORA73A AL355075.4--SNHG3 |
AL359736.1 | - | - | - | - | 3 | Gain | - |
AL359922.1 | - | - | - | - | 1 | Loss | - |
AL512506.3 | - | - | - | - | 3 | Gain | - |
AL513165.2 | - | - | - | - | 1 | Loss | - |
AL592490.1 | - | - | - | - | 3 | Gain | - |
ALAS1 | - | - | - | - | 1 | Loss | - |
ALDH1B1 | - | - | - | - | 1 | Loss | - |
ALDH1L2 | p.L300F | Missense | SNP | 0.469 | 2 | - | - |
ALDH2 | p.C320W | Missense | SNP | 0.385 | 2 | - | - |
ALG11 | - | - | - | - | 3 | Gain | - |
ALG5 | - | - | - | - | 3 | Gain | - |
ALG9 | - | - | - | - | 1 | Loss | - |
ALK | p.K1109N | Missense | SNP | 0.474 | 2 | - | - |
ALKAL1 | - | - | - | - | 3 | Gain | - |
ALKBH8 | - | - | - | - | 1 | Loss | - |
ALMS1 | p.G1199S | Missense | SNP | 0.529 | 2 | - | - |
ALOX5AP | - | - | - | - | 3 | Gain | - |
ALOXE3 | p.G750R | Missense | SNP | 0.474 | 2 | - | - |
ALPK2 | p.A89V | Missense | SNP | 0.491 | 2 | - | - |
ALS2CL | - | - | - | - | 1 | Loss | - |
ALS2CR11 | p.V1745* p.M1339T | Frame_Shift_Del Missense | DEL SNP | 0.461 0.462 | ND | ND | - |
ALS2CR12 | p.K261R | Missense | SNP | 0.246 | 2 | - | - |
AMACR | - | - | - | - | 4 | Gain | - |
AMBRA1 | p.E468K | Missense | SNP | 0.526 | 2 | - | - |
AMER2 | - | - | - | - | 3 | Gain | - |
AMIGO3 | - | - | - | - | 1 | Loss | - |
AMT | p.R371H | Missense | SNP | 0.994 | 1 | Loss | - |
AMY1A | - | - | - | - | 1 | Loss | - |
AMY1B | - | - | - | - | 1 | Loss | - |
AMY1C | p.X334_splice | Splice_Site | SNP | 0.116 | 1 | Loss | - |
AMY2A | - | - | - | - | 1 | Loss | - |
AMY2B | - | - | - | - | 1 | Loss | - |
ANAPC5 | p.L114Cfs*16 | Frame_Shift_Del | DEL | 0.651 | 2 | - | - |
ANGPT1 | p.N191Tfs*4 | Frame_Shift_Del | DEL | 0.323 | 3 | Gain | - |
ANGPT2 | - | - | - | - | 1 | Loss | - |
ANGPT4 | p.G193S | Missense | SNP | 0.538 | 2 | - | - |
ANGPTL2 | p.P254Lfs*41 | Frame_Shift_Del | DEL | 0.152 | 2 | - | - |
ANK1 | - | - | - | - | 1 | Loss | - |
ANK3 | p.I2751Yfs*21 p.Y861C | Frame_Shift_Del Missense | DEL SNP | 0.438 0.447 | 2 | - | - |
ANKH | - | - | - | - | 4 | Gain | - |
ANKK1 | - | - | - | - | 1 | Loss | - |
ANKRA2 | p.R137K | Missense | SNP | 0.498 | 2 | - | - |
ANKRD10 | - | - | - | - | 3 | Gain | - |
ANKRD11 | p.P1747L | Missense | SNP | 0.412 | 2 | - | - |
ANKRD16 | - | - | - | - | 3 | Gain | - |
ANKRD18A | - | - | - | - | 1 | Loss | - |
ANKRD18B | - | - | - | - | 1 | Loss | - |
ANKRD28 | - | - | - | - | 1 | Loss | - |
ANKRD33B | - | - | - | - | 4 | Gain | - |
ANKRD35 | p.E876K | Missense | SNP | 0.606 | 2 | - | - |
ANKRD36B | - | - | - | - | 1 | Loss | - |
ANKRD36C | p.A623V | Missense | SNP | 0.500 | 1 | Loss | - |
ANKRD46 | - | - | - | - | 3 | Gain | - |
ANKRD50 | p.R236Q | Missense | SNP | 0.439 | 2 | - | - |
ANKRD63 | p.G165N | Missense | MNP | 0.588 | 2 | - | - |
ANLN | p.E151K | Missense | SNP | 0.368 | 2 | - | - |
ANO10 | - | - | - | - | 1 | Loss | - |
ANO2 | p.G966E | Missense | SNP | 0.486 | 2 | - | - |
ANO5 | p.N64Ifs*27 | Frame_Shift_Del | DEL | 0.537 | 2 | - | - |
ANO6 | p.X24_splice | Splice_Site | SNP | 0.404 | 2 | - | - |
ANXA13 | - | - | - | - | 3 | Gain | - |
ANXA2R | - | - | - | - | 4 | Gain | - |
AOC1 | p.H598Y | Missense | SNP | 0.444 | 2 | - | - |
AOX1 | p.G120V | Missense | SNP | 0.071 | 2 | - | - |
AP000646.1 | - | - | - | - | 1 | Loss | - |
AP000769.1 | p.S6L | Missense | SNP | 0.475 | ND | ND | - |
AP001267.5 | - | - | - | - | 1 | Loss | - |
AP001781.2 | - | - | - | - | 1 | Loss | - |
AP002373.1 | - | - | - | - | 1 | Loss | - |
AP002884.3 | - | - | - | - | 1 | Loss | - |
AP1S1 | p.D122Mfs*11 | Frame_Shift_Del | DEL | 0.933 | 2 | - | - |
AP3M2 | - | - | - | - | 1 | Loss | - |
AP5M1 | p.Y84F | Missense | SNP | 0.483 | 2 | - | - |
APBA1 | p.S795R | Missense | SNP | 0.534 | 2 | - | - |
APBB1 | p.R451C | Missense | SNP | 0.513 | 2 | - | - |
APBB1IP | p.R485K | Missense | SNP | 0.520 | 2 | - | - |
APC | p.P865S | Missense | SNP | 0.436 | 2 | - | - |
APEH | - | - | - | - | 1 | Loss | - |
APITD1-CORT | p.Q142Pfs*29 | Frame_Shift_Ins | INS | 0.262 | ND | ND | - |
APLP1 | p.S339F p.R446C | Missense Missense | SNP SNP | 0.480 0.645 | 2 | - | - |
APLP2 | - | - | - | - | 1 | Loss | - |
APOA1 | - | - | - | - | 1 | Loss | - |
APOA4 | - | - | - | - | 1 | Loss | - |
APOA5 | - | - | - | - | 1 | Loss | - |
APOC3 | - | - | - | - | 1 | Loss | - |
APPBP2 | p.E466K | Missense | SNP | 0.582 | 2 | - | - |
APPL1 | - | - | - | - | 1 | Loss | - |
APTX | - | - | - | - | 1 | Loss | - |
AQP3 | - | - | - | - | 1 | Loss | - |
AQP7 | - | - | - | - | 1 | Loss | - |
AR | p.D696N | Missense | SNP | 0.925 | ND | ND | - |
ARAP1 | p.R1160C | Missense | SNP | 0.462 | 2 | - | - |
ARC | - | - | - | - | 3 | Gain | - |
ARCN1 | - | - | - | - | 1 | Loss | - |
ARF4 | - | - | - | - | 1 | Loss | - |
ARFGAP2 | p.F92Sfs*9 | Frame_Shift_Del | DEL | 0.445 | 2 | - | - |
ARFGEF1 | - | - | - | - | 3 | Gain | - |
ARGLU1 | - | - | - | - | 3 | Gain | - |
ARHGAP20 | - | - | - | - | 1 | Loss | - |
ARHGAP24 | p.E705K | Missense | SNP | 0.483 | 2 | - | - |
ARHGAP32 | - | - | - | - | 1 | Loss | - |
ARHGAP33 | p.R551H | Missense | SNP | 0.476 | 2 | - | - |
ARHGAP35 | p.S839L | Missense | SNP | 0.487 | 2 | - | - |
ARHGAP36 | p.S212F | Missense | SNP | 1.000 | ND | ND | - |
ARHGAP39 | p.S366Rfs*18 | Frame_Shift_Del | DEL | 0.297 | 3 | Gain | - |
ARHGEF10 | - | - | - | - | 1 | Loss | - |
ARHGEF10L | p.G552R | Missense | SNP | 0.488 | 2 | - | - |
ARHGEF12 | - | - | - | - | 1 | Loss | - |
ARHGEF15 | p.S630F | Missense | SNP | 0.557 | 2 | - | - |
ARHGEF3 | - | - | - | - | 1 | Loss | - |
ARHGEF39 | - | - | - | - | 1 | Loss | - |
ARHGEF7 | - | - | - | - | 3 | Gain | - |
ARID3C | - | - | - | - | 1 | Loss | - |
ARIH2 | - | - | - | - | 1 | Loss | - |
ARIH2OS | - | - | - | - | 1 | Loss | - |
ARL11 | - | - | - | - | 3 | Gain | - |
ARL5B | - | - | - | - | 3 | Gain | - |
ARL6IP5 | - | - | - | - | 1 | Loss | - |
ARMC1 | - | - | - | - | 3 | Gain | - |
ARMC3 | p.G836R | Missense | SNP | 0.514 | 2 | - | - |
ARPC4 | - | - | - | - | 1 | Loss | - |
ARPC4-TTLL3 | - | - | - | - | 1 | Loss | - |
ARPP21 | - | - | - | - | 1 | Loss | - |
ASAH1 | - | - | - | - | 1 | Loss | - |
ASAP1 | - | - | - | - | 3 | Gain | - |
ASB13 | - | - | - | - | 3 | Gain | - |
ASB14 | - | - | - | - | 1 | Loss | - |
ASB17 | p.N177Tfs*7 | Frame_Shift_Del | DEL | 0.450 | 2 | - | - |
ASB2 | p.C213G | Missense | SNP | 0.512 | 2 | - | - |
ASH1L | p.T2895Qfs*44 p.H2315R p.S15F | Frame_Shift_Del Missense Missense | DEL SNP SNP | 0.393 0.435 0.480 | 2 | - | - |
ASH2L | - | - | - | - | 1 | Loss | - |
ASIC4 | p.E387K | Missense | SNP | 0.500 | 2 | - | - |
ASPH | - | - | - | - | 3 | Gain | - |
ASPM | p.A3335V | Missense | SNP | 0.488 | 2 | - | - |
ASTN1 | p.L1104F p.G76R | Missense Missense | SNP SNP | 0.382 0.520 | 2 | - | - |
ASXL3 | p.G587I p.E762K p.S1221F p.P1731S | Missense Missense Missense Missense | MNP SNP SNP SNP | 0.482 0.577 0.454 0.408 | 2 | - | - |
ATAD2 | - | - | - | - | 3 | Gain | - |
ATAD3A | p.P330L | Missense | SNP | 0.574 | 2 | - | - |
ATF4 | p.M285Nfs*10 | Frame_Shift_Ins | INS | 0.138 | 2 | - | - |
ATF7IP | p.P1233H | Missense | SNP | 0.367 | 2 | - | - |
ATG2A | p.P865S | Missense | SNP | 0.484 | 2 | - | - |
ATG4C | p.E441K | Missense | SNP | 0.479 | 2 | - | - |
ATG5 | p.D262N | Missense | SNP | 0.446 | 2 | - | - |
ATG7 | - | - | - | - | 1 | Loss | - |
ATM | - | - | - | - | 1 | Loss | - |
ATP11A | - | - | - | - | 3 | Gain | - |
ATP12A | - | - | - | - | 3 | Gain | - |
ATP2A1 | p.R822Gfs*49 | Frame_Shift_Del | DEL | 0.841 | 2 | - | - |
ATP2A3 | p.N796S | Missense | SNP | 0.485 | 2 | - | - |
ATP2B1 | p.D756G | Missense | SNP | 0.361 | 2 | - | - |
ATP2B2 | - | - | - | - | 1 | Loss | - |
ATP4B | p.F285L | Missense | SNP | 0.804 | 3 | Gain | - |
ATP5F1C | - | - | - | - | 3 | Gain | - |
ATP5MG | - | - | - | - | 1 | Loss | - |
ATP6V0D2 | - | - | - | - | 3 | Gain | - |
ATP6V0E2 | p.G170R | Missense | SNP | 0.440 | 2 | - | - |
ATP6V1B2 | - | - | - | - | 1 | Loss | - |
ATP6V1C1 | - | - | - | - | 3 | Gain | - |
ATP6V1E2 | p.K10Sfs*6 | Frame_Shift_Del | DEL | 0.373 | 2 | - | - |
ATP6V1G1 | p.E39del | In_Frame_Del | DEL | 1.000 | 2 | - | - |
ATP6V1H | - | - | - | - | 3 | Gain | - |
ATP7B | - | - | - | - | 3 | Gain | - |
ATP8A1 | p.R735W | Missense | SNP | 0.448 | 2 | - | - |
ATP8A2 | p.G160D | Missense | SNP | 0.622 | 3 | Gain | - |
ATP9B | p.C167W | Missense | SNP | 0.314 | 2 | - | - |
ATRIP | - | - | - | - | 1 | Loss | - |
ATRNL1 | p.Q881* | Nonsense | SNP | 0.468 | 2 | - | - |
ATXN10 | p.S448F | Missense | SNP | 0.500 | 2 | - | - |
ATXN7 | - | - | - | - | 1 | Loss | - |
AUTS2 | p.P1213L | Missense | SNP | 0.503 | 2 | - | - |
AXDND1 | p.E791G | Missense | SNP | 0.495 | 2 | - | - |
AXL | p.P337Lfs*29 | Frame_Shift_Del | DEL | 0.135 | 2 | - | - |
AZI2 | - | - | - | - | 1 | Loss | - |
AZIN1 | - | - | - | - | 3 | Gain | - |
B3GALT6 | p.R197Afs*81 | Frame_Shift_Del | DEL | 0.438 | 2 | - | - |
B3GAT1 | - | - | - | - | 1 | Loss | - |
B3GLCT | p.S68F | Missense | SNP | 0.659 | 3 | Gain | - |
B4GALNT3 | p.Q917Sfs*9 | Frame_Shift_Del | DEL | 0.443 | 2 | - | - |
B4GALT1 | - | - | - | - | 1 | Loss | - |
B4GALT5 | p.A62S | Missense | SNP | 0.455 | 2 | - | - |
BAALC | - | - | - | - | 3 | Gain | - |
BAAT | p.M1? | Frame_Shift_Del | DEL | 0.515 | 2 | - | - |
BACE1 | - | - | - | - | 1 | Loss | - |
BAG1 | - | - | - | - | 1 | Loss | - |
BAG4 | - | - | - | - | 1 | Loss | - |
BAHCC1 | p.H835Tfs*139 | Frame_Shift_Del | DEL | 0.478 | 2 | - | - |
BAP1 | - | - | - | - | 1 | Loss | - |
BARX2 | - | - | - | - | 1 | Loss | - |
BASP1 | - | - | - | - | 4 | Gain | - |
BAZ1A | p.G578E | Missense | SNP | 0.502 | 2 | - | - |
BCHE | p.T343Pfs*16 | Frame_Shift_Del | DEL | 0.078 | 2 | - | - |
BCKDHA | p.S89P | Missense | SNP | 0.667 | 2 | - | - |
BCL11B | p.S765L | Missense | SNP | 0.433 | 2 | - | - |
BCL2 | - | - | - | - | 1 | Loss | - |
BCL3 | p.K361Efs*16 p.L76P | Frame_Shift_Ins Missense | INS SNP | 0.328 0.527 | 2 | - | - |
BCL9L | - | - | - | - | 1 | Loss | - |
BCO2 | - | - | - | - | 1 | Loss | - |
BEND7 | - | - | - | - | 3 | Gain | - |
BHLHE22 | - | - | - | - | 3 | Gain | - |
BHLHE41 | p.R17G | Missense | SNP | 0.507 | 2 | - | - |
BIN3 | - | - | - | - | 1 | Loss | - |
BIVM | - | - | - | - | 3 | Gain | - |
BIVM-ERCC5 | - | - | - | - | 3 | Gain | - |
BLID | - | - | - | - | 1 | Loss | - |
BLK | - | - | - | - | 1 | Loss | - |
BLM | p.V301Cfs*20 | Frame_Shift_Ins | INS | 0.307 | 2 | - | - |
BMP1 | - | - | - | - | 1 | Loss | - |
BMP15 | p.S280F | Missense | SNP | 1.000 | ND | ND | - |
BMP5 | p.E357K | Missense | SNP | 0.530 | 2 | - | - |
BMP7 | p.A395V | Missense | SNP | 0.455 | 2 | - | - |
BNC2 | - | - | - | - | 1 | Loss | - |
BNIP2 | p.P72S | Missense | SNP | 0.364 | 2 | - | - |
BNIP3L | - | - | - | - | 1 | Loss | - |
BOLL | p.G261E | Missense | SNP | 0.484 | 2 | - | - |
BORA | - | - | - | - | 3 | Gain | - |
BPI | p.L458F | Missense | SNP | 0.510 | 2 | - | - |
BPIFB3 | p.T473I | Missense | SNP | 0.408 | 2 | - | - |
BRCA2 | p.H334Y | Missense | SNP | 0.644 | 3 | Gain | - |
BRD4 | p.P1175H | Missense | SNP | 0.586 | 2 | - | - |
BRD9 | - | - | - | - | 4 | Gain | - |
BRF1 | p.S293Rfs*11 | Frame_Shift_Del | DEL | 0.441 | 2 | - | - |
BRF2 | - | - | - | - | 1 | Loss | - |
BRIX1 | - | - | - | - | 4 | Gain | - |
BRK1 | - | - | - | - | 1 | Loss | - |
BRPF1 | p.M745Wfs*48 | Frame_Shift_Del | DEL | 0.956 | 1 | Loss | - |
BRPF3 | p.A1082V | Missense | SNP | 0.494 | 2 | - | - |
BRSK2 | p.R401Gfs*4 | Frame_Shift_Del | DEL | 0.453 | 2 | - | - |
BRWD3 | p.L1332F | Missense | SNP | 1.000 | ND | ND | - |
BSN | - | - | - | - | 1 | Loss | - |
BSX | - | - | - | - | 1 | Loss | - |
BTC | p.P167S | Missense | SNP | 0.413 | 2 | - | - |
BTD | - | - | - | - | 1 | Loss | - |
BTG4 | - | - | - | - | 1 | Loss | - |
BTN2A1 | p.F463del p.I115F | In_Frame_Del Missense | DEL SNP | 0.408 0.491 | 2 | - | - |
BTRC | p.R390C | Missense | SNP | 0.448 | 2 | - | - |
BUD13 | - | - | - | - | 1 | Loss | - |
C10orf120 | p.K271R | Missense | SNP | 0.457 | 2 | - | - |
C11orf1 | - | - | - | - | 1 | Loss | - |
C11orf45 | - | - | - | - | 1 | Loss | - |
C11orf52 | - | - | - | - | 1 | Loss | - |
C11orf53 | - | - | - | - | 1 | Loss | - |
C11orf65 | - | - | - | - | 1 | Loss | - |
C11orf71 | - | - | - | - | 1 | Loss | - |
C11orf87 | - | - | - | - | 1 | Loss | - |
C11orf88 | - | - | - | - | 1 | Loss | - |
C12orf42 | p.R19K | Missense | SNP | 0.553 | 2 | - | - |
C16orf71 | p.E264* | Frame_Shift_Ins | INS | 0.346 | 2 | - | - |
C16orf72 | p.E41Sfs*103 | Frame_Shift_Del | DEL | 0.470 | 2 | - | - |
C1orf141 | p.N225Ifs*23 | Frame_Shift_Del | DEL | 0.407 | 2 | - | - |
C1orf167 | p.A1067Sfs*55 | Frame_Shift_Ins | INS | 0.332 | 2 | - | - |
C1orf228 | p.V399A | Missense | SNP | 0.442 | ND | ND | - |
C1QA | p.P29L | Missense | MNP | 0.663 | 2 | - | - |
C1QL3 | - | - | - | - | 3 | Gain | - |
C1QTNF3 | p.Y236H p.S233L | Missense Missense | SNP SNP | 0.232 0.759 | 4 | Gain | - |
C1QTNF3-AMACR | - | - | - | - | 4 | Gain | - |
C1QTNF4 | p.G168E | Missense | SNP | 0.561 | 2 | - | - |
C1QTNF5 | - | - | - | - | 1 | Loss | - |
C1QTNF9 | - | - | - | - | 3 | Gain | - |
C1QTNF9B | - | - | - | - | 3 | Gain | - |
C2CD2L | - | - | - | - | 1 | Loss | - |
C2CD3 | p.K654Sfs*43 p.A565V | Frame_Shift_Del Missense | DEL SNP | 0.467 0.520 | 2 | - | - |
C3 | p.G1394E | Missense | SNP | 0.388 | 2 | - | - |
C3orf14 | - | - | - | - | 1 | Loss | - |
C3orf18 | - | - | - | - | 1 | Loss | - |
C3orf20 | - | - | - | - | 1 | Loss | - |
C3orf49 | - | - | - | - | 1 | Loss | - |
C3orf62 | - | - | - | - | 1 | Loss | - |
C3orf67 | - | - | - | - | 1 | Loss | - |
C3orf84 | - | - | - | - | 1 | Loss | - |
C4B | p.V867I | Missense | SNP | 1.000 | 2 | - | - |
C4BPB | p.W184* | Nonsense | SNP | 0.457 | 2 | - | - |
C4orf26 | p.S131F | Missense | SNP | 0.482 | ND | ND | - |
C5orf22 | - | - | - | - | 4 | Gain | - |
C5orf34 | p.T622Pfs*87 | Frame_Shift_Del | DEL | 0.184 | 4 | Gain | - |
C5orf38 | - | - | - | - | 4 | Gain | - |
C5orf49 | - | - | - | - | 4 | Gain | - |
C5orf51 | p.X69_splice | Splice_Site | SNP | 0.230 | 4 | Gain | - |
C6 | p.H830Y p.R145G | Missense Missense | SNP SNP | 0.753 0.200 | 4 | Gain | - |
C6orf118 | p.E443K | Missense | SNP | 0.344 | 2 | - | - |
C7 | - | - | - | - | 4 | Gain | - |
C7orf31 | p.M211I | Missense | SNP | 0.548 | 2 | - | - |
C8orf33 | - | - | - | - | 3 | Gain | - |
C8orf34 | - | - | - | - | 3 | Gain | - |
C8orf37 | - | - | - | - | 3 | Gain | - |
C8orf44 | - | - | - | - | 3 | Gain | - |
C8orf48 | - | - | - | - | 1 | Loss | - |
C8orf58 | - | - | - | - | 1 | Loss | - |
C8orf59 | - | - | - | - | 3 | Gain | - |
C8orf74 | - | - | - | - | 1 | Loss | - |
C8orf76 | - | - | - | - | 3 | Gain | - |
C8orf82 | - | - | - | - | 3 | Gain | - |
C8orf86 | - | - | - | - | 1 | Loss | - |
C8orf88 | - | - | - | - | 3 | Gain | - |
C8orf89 | - | - | - | - | 3 | Gain | - |
C9 | - | - | - | - | 4 | Gain | - |
C9orf131 | p.G579E | Missense | SNP | 1.000 | 1 | Loss | - |
C9orf135 | p.D63N | Missense | SNP | 0.458 | 2 | - | - |
C9orf24 | - | - | - | - | 1 | Loss | - |
C9orf3 | - | - | - | - | 1 | Loss | - |
C9orf66 | - | - | - | - | 1 | Loss | - |
C9orf72 | - | - | - | - | 1 | Loss | - |
C9orf92 | - | - | - | - | 1 | Loss | - |
CA1 | - | - | - | - | 3 | Gain | - |
CA13 | - | - | - | - | 3 | Gain | - |
CA2 | - | - | - | - | 3 | Gain | - |
CA3 | - | - | - | - | 3 | Gain | - |
CA8 | - | - | - | - | 3 | Gain | - |
CA9 | - | - | - | - | 1 | Loss | - |
CAAP1 | - | - | - | - | 1 | Loss | - |
CAB39L | - | - | - | - | 3 | Gain | - |
CABIN1 | p.S1323A | Missense | SNP | 0.358 | 2 | - | - |
CABS1 | p.S37Ifs*17 p.D84N | Frame_Shift_Ins Missense | INS SNP | 0.327 0.396 | 2 | - | - |
CACNA1A | p.D997Tfs*72 | Frame_Shift_Del | DEL | 0.093 | 2 | - | - |
CACNA1C | p.X780_splice | Splice_Site | SNP | 0.546 | 2 | - | - |
CACNA1D | - | - | - | - | 1 | Loss | - |
CACNA1H | p.A2240V | Missense | SNP | 0.419 | 2 | - | - |
CACNA1I | p.T1279I | Missense | SNP | 0.200 | 2 | - | - |
CACNA2D2 | - | - | - | - | 1 | Loss | - |
CACNA2D3 | - | - | - | - | 1 | Loss | - |
CACNB2 | p.G193E | Missense | SNP | 0.310 | 3 | Gain | - |
CACNG4 | p.I137V | Missense | SNP | 0.363 | 2 | - | - |
CACNG6 | p.P209Rfs*21 | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
CACYBP | p.T226A | Missense | SNP | 0.530 | 2 | - | - |
CAD | p.H2052R | Missense | SNP | 0.471 | 2 | - | - |
CADM1 | - | - | - | - | 1 | Loss | - |
CADPS | p.D806Ifs*10 | Frame_Shift_Del | DEL | 1.000 | 1 | Loss | - |
CADPS2 | p.M1211I | Missense | SNP | 0.458 | 2 | - | - |
CALB1 | - | - | - | - | 3 | Gain | - |
CALCR | p.P394S | Missense | SNP | 0.436 | 2 | - | - |
CALML3 | - | - | - | - | 3 | Gain | - |
CALML5 | - | - | - | - | 3 | Gain | - |
CAMK1 | - | - | - | - | 1 | Loss | - |
CAMK1D | - | - | - | - | 3 | Gain | - |
CAMKV | - | - | - | - | 1 | Loss | - |
CAMP | - | - | - | - | 1 | Loss | - |
CAMTA2 | p.P889Lfs*9 | Frame_Shift_Del | DEL | 0.449 | 2 | - | - |
CAND2 | - | - | - | - | 1 | Loss | - |
CANT1 | p.R300H | Missense | SNP | 0.467 | 2 | - | - |
CAPN1 | p.E523* | Nonsense | SNP | 0.523 | 2 | - | - |
CAPN6 | p.R444C | Missense | SNP | 1.000 | ND | ND | - |
CAPN7 | - | - | - | - | 1 | Loss | - |
CAPSL | - | - | - | - | 4 | Gain | - |
CARD16 | - | - | - | - | 1 | Loss | - |
CARD17 | - | - | - | - | 1 | Loss | - |
CARD18 | - | - | - | - | 1 | Loss | - |
CARD6 | - | - | - | - | 4 | Gain | - |
CARMIL2 | p.F67I | Missense | SNP | 0.488 | 2 | - | - |
CARS2 | - | - | - | - | 3 | Gain | - |
CASP1 | - | - | - | - | 1 | Loss | - |
CASP6 | - | - | - | - | 3 | Gain | - |
CATSPER1 | p.P93S | Missense | SNP | 0.493 | 2 | - | - |
CATSPER3 | p.F66Lfs*10 | Frame_Shift_Del | DEL | 0.534 | 2 | - | - |
CATSPERB | p.Q723* | Nonsense | SNP | 0.426 | 2 | - | - |
CAV3 | - | - | - | - | 1 | Loss | - |
CBL | - | - | - | - | 1 | Loss | - |
CBR1 | p.K146N | Missense | SNP | 0.454 | 2 | - | - |
CBSL | - | - | - | - | 1 | Loss | - |
CBWD1 | - | - | - | - | 1 | Loss | - |
CBWD3 | - | - | - | - | 1 | Loss | - |
CBWD5 | - | - | - | - | 1 | Loss | - |
CBWD6 | - | - | - | - | 1 | Loss | - |
CBX2 | p.R161W | Missense | SNP | 0.532 | 2 | - | - |
CBX4 | p.P458S | Missense | SNP | 0.444 | 2 | - | - |
CC2D1A | p.A814T | Missense | SNP | 0.535 | 2 | - | - |
CC2D2A | p.P612L p.E631K | Missense Missense | SNP SNP | 0.498 0.514 | 2 | - | - |
CCAR2 | - | - | - | - | 1 | Loss | - |
CCBE1 | - | - | - | - | 1 | Loss | - |
CCDC107 | - | - | - | - | 1 | Loss | - |
CCDC112 | p.S439F | Missense | SNP | 0.505 | 2 | - | - |
CCDC12 | - | - | - | - | 1 | Loss | - |
CCDC122 | - | - | - | - | 3 | Gain | - |
CCDC127 | p.P8S | Missense | SNP | 0.761 | 3 | Gain | - |
CCDC129 | p.G203E | Missense | SNP | 0.540 | ND | ND | - |
CCDC13 | - | - | - | - | 1 | Loss | - |
CCDC134 | p.F95L | Missense | SNP | 0.337 | 2 | - | - |
CCDC138 | - | - | - | - | 3 | Gain | - |
CCDC148 | p.I418* | Frame_Shift_Del | DEL | 0.569 | 2 | - | - |
CCDC15 | - | - | - | - | 1 | Loss | - |
CCDC152 | p.R251H p.R253Q | Missense Missense | SNP SNP | 0.678 0.116 | 4 | Gain | - |
CCDC153 | - | - | - | - | 1 | Loss | - |
CCDC166 | - | - | - | - | 3 | Gain | - |
CCDC168 | p.E6232K p.R3382K | Missense Missense | SNP SNP | 0.339 0.611 | 3 | Gain | - |
CCDC169 | - | - | - | - | 3 | Gain | - |
CCDC169-SOHLH2 | - | - | - | - | 3 | Gain | - |
CCDC171 | - | - | - | - | 1 | Loss | - |
CCDC174 | - | - | - | - | 1 | Loss | - |
CCDC175 | p.M765I | Missense | SNP | 0.462 | 2 | - | - |
CCDC188 | p.G114K | Missense | MNP | 0.512 | 2 | - | - |
CCDC25 | - | - | - | - | 1 | Loss | - |
CCDC3 | - | - | - | - | 3 | Gain | - |
CCDC36 | - | - | - | - | 1 | Loss | - |
CCDC47 | p.R443* | Nonsense | SNP | 0.478 | 2 | - | - |
CCDC51 | - | - | - | - | 1 | Loss | - |
CCDC66 | - | - | - | - | 1 | Loss | - |
CCDC70 | - | - | - | - | 3 | Gain | - |
CCDC71 | - | - | - | - | 1 | Loss | - |
CCDC74B | - | - | - | - | 1 | Loss | - |
CCDC80 | p.K553Rfs*2 | Frame_Shift_Del | DEL | 0.330 | 2 | - | - |
CCDC84 | - | - | - | - | 1 | Loss | - |
CCDC88C | p.S1852Afs*213 | Frame_Shift_Del | DEL | 0.425 | 2 | - | - |
CCIN | - | - | - | - | 1 | Loss | - |
CCK | - | - | - | - | 1 | Loss | - |
CCKBR | p.L344Cfs*35 | Frame_Shift_Del | DEL | 0.392 | 2 | - | - |
CCL19 | - | - | - | - | 1 | Loss | - |
CCL20 | p.S28Kfs*4 | Frame_Shift_Ins | INS | 0.254 | 2 | - | - |
CCL21 | - | - | - | - | 1 | Loss | - |
CCL24 | p.A61E | Missense | SNP | 0.056 | 2 | - | - |
CCL27 | - | - | - | - | 1 | Loss | - |
CCL28 | - | - | - | - | 4 | Gain | - |
CCNA1 | - | - | - | - | 3 | Gain | - |
CCNB3 | p.R1083K | Missense | SNP | 0.974 | ND | ND | - |
CCNE2 | - | - | - | - | 3 | Gain | - |
CCNT1 | p.S715P | Missense | SNP | 0.458 | 2 | - | - |
CCR1 | - | - | - | - | 1 | Loss | - |
CCR2 | - | - | - | - | 1 | Loss | - |
CCR3 | - | - | - | - | 1 | Loss | - |
CCR4 | - | - | - | - | 1 | Loss | - |
CCR5 | - | - | - | - | 1 | Loss | - |
CCR8 | - | - | - | - | 1 | Loss | - |
CCR9 | - | - | - | - | 1 | Loss | - |
CCRL2 | - | - | - | - | 1 | Loss | - |
CCT5 | - | - | - | - | 4 | Gain | - |
CD1D | p.E20* | Nonsense | SNP | 0.450 | 2 | - | - |
CD274 | - | - | - | - | 1 | Loss | - |
CD3D | - | - | - | - | 1 | Loss | - |
CD3E | - | - | - | - | 1 | Loss | - |
CD3EAP | p.N220Ifs*4 | Frame_Shift_Del | DEL | 0.497 | 2 | - | - |
CD3G | - | - | - | - | 1 | Loss | - |
CD72 | - | - | - | - | 1 | Loss | - |
CDADC1 | - | - | - | - | 3 | Gain | - |
CDC123 | - | - | - | - | 3 | Gain | - |
CDC14A | p.X173_splice | Splice_Site | SNP | 0.316 | 2 | - | - |
CDC16 | - | - | - | - | 3 | Gain | - |
CDC25A | - | - | - | - | 1 | Loss | - |
CDC37L1 | - | - | - | - | 1 | Loss | - |
CDC73 | p.P113S | Missense | SNP | 0.504 | 2 | - | - |
CDCA2 | - | - | - | - | 1 | Loss | - |
CDCA4 | p.E230K | Missense | SNP | 0.373 | 2 | - | - |
CDCP1 | - | - | - | - | 1 | Loss | - |
CDH10 | p.S527Qfs*14 | Frame_Shift_Ins | INS | 0.108 | 4 | Gain | - |
CDH11 | p.X548_splice | Splice_Site | SNP | 0.489 | 2 | - | - |
CDH12 | p.D429V | Missense | SNP | 0.268 | 4 | Gain | - |
CDH15 | p.H513Tfs*9 | Frame_Shift_Del | DEL | 0.546 | 2 | - | - |
CDH17 | - | - | - | - | 3 | Gain | - |
CDH18 | - | - | - | - | 4 | Gain | - |
CDH2 | p.E861K | Missense | SNP | 0.527 | 2 | - | - |
CDH20 | - | - | - | - | 1 | Loss | - |
CDH23 | p.N536S | Missense | SNP | 0.446 | 2 | - | - |
CDH4 | p.G849E | Missense | SNP | 0.617 | 2 | - | - |
CDH6 | p.Y419* | Nonsense | SNP | 0.243 | 4 | Gain | - |
CDH7 | p.L629Ffs*9 | Frame_Shift_Ins | INS | 0.237 | 2 | - | - |
CDH9 | p.A485T | Missense | SNP | 0.714 | 4 | Gain | - |
CDHR2 | p.R383Afs*51 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
CDHR4 | - | - | - | - | 1 | Loss | - |
CDK12 | p.I730del | In_Frame_Del | DEL | 0.391 | 2 | - | - |
CDK18 | p.D340Mfs*59 | Frame_Shift_Del | DEL | 0.507 | 2 | - | - |
CDK8 | - | - | - | - | 3 | Gain | - |
CDKN2A | p.P114L | Missense | SNP | 1.000 | 1 | Loss | - |
CDKN2B | - | - | - | - | 1 | Loss | - |
CDNF | - | - | - | - | 3 | Gain | - |
CDON | - | - | - | - | 1 | Loss | - |
CDX2 | - | - | - | - | 3 | Gain | - |
CDYL | p.S526L | Missense | SNP | 0.455 | 2 | - | - |
CEACAM18 | p.D237E | Missense | SNP | 0.516 | 2 | - | - |
CEACAM20 | p.H61Y | Missense | SNP | 0.514 | 2 | - | - |
CEACAM6 | p.S245Qfs*11 | Frame_Shift_Del | DEL | 0.066 | 2 | - | - |
CEBPD | - | - | - | - | 3 | Gain | - |
CELF1 | p.C89Y | Missense | SNP | 0.429 | 2 | - | - |
CELF2 | - | - | - | - | 3 | Gain | - |
CELF5 | p.E415K | Missense | SNP | 0.469 | 2 | - | - |
CELSR1 | p.R1643Q p.Q1273* | Missense Nonsense | SNP SNP | 0.370 0.300 | 2 | - | - |
CELSR3 | - | - | - | - | 1 | Loss | - |
CENPJ | - | - | - | - | 3 | Gain | - |
CENPN | p.R60C | Missense | SNP | 0.367 | 2 | - | - |
CENPP | p.E48K | Missense | SNP | 0.486 | 2 | - | - |
CEP162 | p.F406Lfs*8 | Frame_Shift_Del | DEL | 0.082 | 2 | - | - |
CEP164 | - | - | - | - | 1 | Loss | - |
CEP192 | p.E1195K p.P2178S | Missense Missense | SNP SNP | 0.521 0.500 | 2 | - | - |
CEP57 | p.K462R | Missense | SNP | 0.449 | 2 | - | - |
CEP72 | - | - | - | - | 3 | Gain | - |
CER1 | - | - | - | - | 1 | Loss | - |
CFAP47 | p.S1555Ffs*14 p.Q2625Sfs*12 | Frame_Shift_Ins Frame_Shift_Del | INS DEL | 0.447 0.968 | ND | ND | - |
CFAP54 | p.R1557Efs*19 p.K2593E | Frame_Shift_Del Missense | DEL SNP | 0.434 0.466 | 2 | - | - |
CFAP61 | p.S919F | Missense | SNP | 0.506 | 2 | - | - |
CFAP65 | p.M633* | Frame_Shift_Del | DEL | 0.384 | 2 | - | - |
CFAP74 | p.Q950Pfs*52 | Frame_Shift_Ins | INS | 0.276 | 2 | - | - |
CFHR3 | p.P214S | Missense | SNP | 0.565 | 2 | - | - |
CFI | - | - | - | - | 3 | Gain | - |
CFTR | p.P1205L | Missense | SNP | 0.502 | 2 | - | - |
CGA | p.P95S | Missense | SNP | 0.445 | 2 | - | - |
CHAMP1 | - | - | - | - | 3 | Gain | - |
CHCHD4 | - | - | - | - | 1 | Loss | - |
CHCHD7 | - | - | - | - | 3 | Gain | - |
CHD4 | p.R975H | Missense | SNP | 0.444 | 2 | - | - |
CHD5 | p.D1382Y | Missense | SNP | 0.532 | 2 | - | - |
CHD6 | p.T90A | Missense | SNP | 0.101 | 2 | - | - |
CHD7 | p.T1497I | Missense | SNP | 0.692 | 3 | Gain | - |
CHDH | - | - | - | - | 1 | Loss | - |
CHEK1 | - | - | - | - | 1 | Loss | - |
CHGB | p.E211K | Missense | SNP | 0.478 | 2 | - | - |
CHL1 | p.S89L p.P540S | Missense Missense | SNP SNP | 0.412 0.591 | 2 | - | - |
CHMP4C | - | - | - | - | 3 | Gain | - |
CHMP5 | - | - | - | - | 1 | Loss | - |
CHMP7 | - | - | - | - | 1 | Loss | - |
CHN1 | p.L297R | Missense | SNP | 0.490 | 2 | - | - |
CHPF | p.R415H | Missense | SNP | 0.434 | 2 | - | - |
CHRAC1 | - | - | - | - | 3 | Gain | - |
CHRM3 | p.K567Rfs*31 p.M131I | Frame_Shift_Del Missense | DEL SNP | 0.507 0.466 | 2 | - | - |
CHRNA2 | - | - | - | - | 1 | Loss | - |
CHRNA6 | - | - | - | - | 1 | Loss | - |
CHRNB3 | - | - | - | - | 1 | Loss | - |
CHST11 | p.R133W | Missense | SNP | 0.433 | 2 | - | - |
CHST3 | p.L393Pfs*119 | Frame_Shift_Ins | INS | 0.177 | 2 | - | - |
CHST7 | p.G361Rfs*15 | Frame_Shift_Del | DEL | 0.880 | ND | ND | - |
CIB3 | p.L140* | Frame_Shift_Del | DEL | 0.446 | 2 | - | - |
CIDEC | - | - | - | - | 1 | Loss | - |
CISD3 | p.X17_splice;p.D17N | Splice_Site | MNP | 0.479 | 2 | - | - |
CISH | - | - | - | - | 1 | Loss | - |
CKAP2 | - | - | - | - | 3 | Gain | - |
CKAP2L | p.E325K | Missense | SNP | 0.478 | 2 | - | - |
CKMT2 | p.L383F | Missense | SNP | 0.545 | 2 | - | - |
CLASP2 | - | - | - | - | 1 | Loss | - |
CLCA1 | p.R209Dfs*7 | Frame_Shift_Del | DEL | 0.472 | 2 | - | - |
CLCN3 | p.F388Lfs*9 | Frame_Shift_Del | DEL | 0.431 | 2 | - | - |
CLCNKA | - | - | - | - | 1 | Loss | - |
CLDN10 | - | - | - | - | 3 | Gain | - |
CLDN23 | - | - | - | - | 1 | Loss | - |
CLDN25 | - | - | - | - | 1 | Loss | - |
CLDN9 | p.L180Sfs*196 | Frame_Shift_Del | DEL | 0.409 | 2 | - | - |
CLEC3B | - | - | - | - | 1 | Loss | - |
CLIC5 | p.Q115P | Missense | SNP | 0.446 | 2 | - | - |
CLMP | - | - | - | - | 1 | Loss | - |
CLN5 | - | - | - | - | 3 | Gain | - |
CLN6 | p.X181_splice | Splice_Site | SNP | 0.500 | 2 | - | - |
CLN8 | - | - | - | - | 1 | Loss | - |
CLPTM1L | - | - | - | - | 4 | Gain | - |
CLTA | - | - | - | - | 1 | Loss | - |
CLTC | p.A1039T | Missense | SNP | 0.336 | 2 | - | - |
CLU | - | - | - | - | 1 | Loss | - |
CLUH | p.X810_splice p.T315S | Splice_Site Missense | SNP SNP | 0.495 0.381 | 2 | - | - |
CLVS1 | - | - | - | - | 3 | Gain | - |
CLYBL | - | - | - | - | 3 | Gain | - |
CMBL | - | - | - | - | 4 | Gain | - |
CMC1 | - | - | - | - | 1 | Loss | - |
CMTM6 | - | - | - | - | 1 | Loss | - |
CMTM7 | - | - | - | - | 1 | Loss | - |
CMTM8 | - | - | - | - | 1 | Loss | - |
CNBD1 | p.R380* p.R386K | Nonsense Missense | SNP SNP | 0.636 0.559 | 3 | Gain | - |
CNGA1 | p.T516Qfs*8 | Frame_Shift_Del | DEL | 0.358 | 2 | - | - |
CNGB3 | - | - | - | - | 3 | Gain | - |
CNMD | - | - | - | - | 3 | Gain | - |
CNOT10 | - | - | - | - | 1 | Loss | - |
CNOT7 | - | - | - | - | 1 | Loss | - |
CNTFR | - | - | - | - | 1 | Loss | - |
CNTLN | p.E286K | Missense | SNP | 1.000 | 1 | Loss | - |
CNTN3 | - | - | - | - | 1 | Loss | - |
CNTN5 | p.S379F | Missense | SNP | 0.623 | 2 | - | - |
CNTN6 | p.G744D | Missense | SNP | 0.565 | 2 | - | - |
CNTNAP1 | p.G322S | Missense | SNP | 0.481 | 2 | - | - |
CNTNAP3 | - | - | - | - | 1 | Loss | - |
CNTNAP3B | - | - | - | - | 1 | Loss | - |
CNTNAP3C | - | - | - | - | 1 | Loss | - |
CNTNAP4 | p.I442S | Missense | SNP | 0.484 | 2 | - | - |
CNTNAP5 | p.Q618R | Missense | SNP | 0.093 | 2 | - | - |
COG3 | - | - | - | - | 3 | Gain | - |
COG6 | - | - | - | - | 3 | Gain | - |
COIL | p.K196Rfs*13 | Frame_Shift_Del | DEL | 0.911 | 2 | - | - |
COL11A1 | p.G451S | Missense | SNP | 0.557 | 2 | - | - |
COL13A1 | p.X566_splice | Splice_Site | SNP | 0.567 | 2 | - | - |
COL14A1 | - | - | - | - | 3 | Gain | - |
COL15A1 | p.E435Sfs*25 p.G217D | Frame_Shift_Del Missense | DEL SNP | 0.462 0.112 | 2 | - | - |
COL22A1 | p.G771E | Missense | SNP | 0.283 | 3 | Gain | - |
COL24A1 | p.G873R p.A722V | Missense Missense | SNP SNP | 0.484 0.517 | 2 | - | - |
COL25A1 | p.M519K | Missense | SNP | 0.463 | 2 | - | - |
COL2A1 | p.P122S | Missense | SNP | 0.399 | 2 | - | - |
COL3A1 | p.P1043S | Missense | SNP | 0.479 | 2 | - | - |
COL4A1 | p.R476W | Missense | SNP | 0.363 | 3 | Gain | - |
COL4A2 | p.G429E p.G1408R | Missense Missense | SNP SNP | 0.297 0.403 | 3 | Gain | - |
COL4A3 | p.G880E | Missense | SNP | 0.466 | 2 | - | - |
COL4A4 | p.P635S p.P78L | Missense Missense | SNP SNP | 0.574 0.504 | 2 | - | - |
COL4A6 | p.G624R | Missense | SNP | 1.000 | ND | ND | - |
COL6A3 | p.T818S | Missense | SNP | 0.468 | 2 | - | - |
COL6A6 | p.R1295Q p.G1296E | Missense Missense | SNP SNP | 0.546 0.457 | 2 | - | - |
COL7A1 | - | - | - | - | 1 | Loss | - |
COLCA2 | - | - | - | - | 1 | Loss | - |
COLEC10 | - | - | - | - | 3 | Gain | - |
COLQ | p.P203S | Missense | SNP | 1.000 | 1 | Loss | - |
COMMD5 | - | - | - | - | 3 | Gain | - |
COMMD6 | - | - | - | - | 3 | Gain | - |
COMT | p.V21L | Missense | SNP | 0.330 | 2 | - | - |
COPS5 | - | - | - | - | 3 | Gain | - |
COPZ1 | . | Splice_Site | SNP | 0.523 | 2 | - | - |
COX6C | - | - | - | - | 5 | Amp | - |
CPA2 | p.R240W | Missense | SNP | 0.507 | 2 | - | - |
CPA6 | - | - | - | - | 3 | Gain | - |
CPAMD8 | p.V684A | Missense | SNP | 0.551 | 2 | - | - |
CPB2 | - | - | - | - | 3 | Gain | - |
CPLANE1 | - | - | - | - | 4 | Gain | - |
CPLX4 | - | - | - | - | 1 | Loss | - |
CPNE3 | - | - | - | - | 3 | Gain | - |
CPNE9 | - | - | - | - | 1 | Loss | - |
CPQ | - | - | - | - | 3 | Gain | - |
CPS1 | p.R1459Q | Missense | SNP | 0.481 | 2 | - | - |
CPSF1 | - | - | - | - | 3 | Gain | - |
CRAT | p.K166Sfs*5 | Frame_Shift_Del | DEL | 0.264 | 2 | - | - |
CRB1 | p.G330E p.E1280V | Missense Missense | SNP SNP | 0.498 0.488 | 2 | - | - |
CREB3 | - | - | - | - | 1 | Loss | - |
CREBBP | p.R1682H | Missense | SNP | 0.507 | 2 | - | - |
CRELD1 | - | - | - | - | 1 | Loss | - |
CRH | - | - | - | - | 3 | Gain | - |
CRISPLD1 | - | - | - | - | 3 | Gain | - |
CROCC | p.D736N | Missense | SNP | 0.159 | 2 | - | - |
CROCC2 | p.L996I | Missense | SNP | 0.616 | 2 | - | - |
CRTAM | - | - | - | - | 1 | Loss | - |
CRTAP | - | - | - | - | 1 | Loss | - |
CRYAA2 | - | - | - | - | 1 | Loss | - |
CRYAB | - | - | - | - | 1 | Loss | - |
CRYBB3 | p.R72K | Missense | SNP | 0.427 | 2 | - | - |
CSGALNACT1 | - | - | - | - | 1 | Loss | - |
CSGALNACT2 | p.Q37Pfs*3 | Frame_Shift_Ins | INS | 0.291 | 2 | - | - |
CSK | p.G85D | Missense | SNP | 0.438 | 2 | - | - |
CSMD1 | p.R2808C p.T2488M p.S1071F | Missense Missense Missense | SNP SNP SNP | 1.000 1.000 1.000 | 1 | Loss | - |
CSMD2 | p.P1130L p.T422A | Missense Missense | SNP SNP | 0.509 0.352 | 2 | - | - |
CSMD3 | p.R3695Q p.S3140F p.E2508K p.T2408A p.X1632_splice p.L761Y | Missense Missense Missense Missense Splice_Site Missense | SNP SNP SNP SNP SNP MNP | 0.322 0.241 0.340 0.179 0.256 0.605 | 3 | Gain | - |
CSNK1A1L | - | - | - | - | 3 | Gain | - |
CSNK2A3 | p.Y182S | Missense | SNP | 0.335 | 2 | - | - |
CSPG5 | - | - | - | - | 1 | Loss | - |
CSPP1 | - | - | - | - | 3 | Gain | - |
CSRNP1 | - | - | - | - | 1 | Loss | - |
CTB-50L17.10 | p.P444L | Missense | SNP | 0.463 | ND | ND | - |
CTBP2 | p.A716D | Missense | SNP | 0.500 | 2 | - | - |
CTDP1 | p.G170K | Missense | MNP | 0.356 | 2 | - | - |
CTDSPL | - | - | - | - | 1 | Loss | - |
CTHRC1 | - | - | - | - | 3 | Gain | - |
CTLA4 | p.L28Ffs*44 | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
CTNNB1 | - | - | - | - | 1 | Loss | - |
CTNNBL1 | p.K463Nfs*57 | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
CTNND1 | p.V739Gfs*10 | Frame_Shift_Del | DEL | 0.387 | 2 | - | - |
CTNND2 | - | - | - | - | 4 | Gain | - |
CTSB | - | - | - | - | 1 | Loss | - |
CTSZ | p.I302V | Missense | SNP | 0.504 | 2 | - | - |
CUBN | p.L3199F p.S2028F p.A1202T p.C225V | Missense Missense Missense Missense | SNP SNP SNP MNP | 0.321 0.338 0.687 0.323 | 3 | Gain | - |
CUL1 | p.A619V | Missense | SNP | 0.458 | 2 | - | - |
CUL4A | - | - | - | - | 3 | Gain | - |
CUL5 | - | - | - | - | 1 | Loss | - |
CWF19L2 | - | - | - | - | 1 | Loss | - |
CX3CR1 | - | - | - | - | 1 | Loss | - |
CXCR5 | - | - | - | - | 1 | Loss | - |
CXCR6 | - | - | - | - | 1 | Loss | - |
CYB561D2 | - | - | - | - | 1 | Loss | - |
CYC1 | - | - | - | - | 3 | Gain | - |
CYHR1 | - | - | - | - | 3 | Gain | - |
CYP11B1 | - | - | - | - | 3 | Gain | - |
CYP11B2 | - | - | - | - | 3 | Gain | - |
CYP27A1 | p.A30V | Missense | SNP | 0.467 | 2 | - | - |
CYP2B6 | p.S207L | Missense | SNP | 0.523 | 2 | - | - |
CYP2J2 | p.Q349* | Nonsense | SNP | 0.486 | 2 | - | - |
CYP4F22 | p.V195I | Missense | SNP | 0.513 | 2 | - | - |
CYP7A1 | - | - | - | - | 3 | Gain | - |
CYP7B1 | - | - | - | - | 3 | Gain | - |
CYP8B1 | - | - | - | - | 1 | Loss | - |
CYSLTR2 | - | - | - | - | 3 | Gain | - |
CYTH4 | p.E54K | Missense | SNP | 0.333 | 2 | - | - |
DAB2 | - | - | - | - | 4 | Gain | - |
DACH1 | - | - | - | - | 3 | Gain | - |
DACT1 | p.L515M | Missense | SNP | 0.353 | 2 | - | - |
DACT2 | p.P252S | Missense | SNP | 0.463 | 2 | - | - |
DAG1 | - | - | - | - | 1 | Loss | - |
DAGLB | p.P589Lfs*43 | Frame_Shift_Del | DEL | 0.421 | 2 | - | - |
DALRD3 | - | - | - | - | 1 | Loss | - |
DAOA | - | - | - | - | 3 | Gain | - |
DAP | - | - | - | - | 4 | Gain | - |
DAPK1 | p.W305Gfs*7 | Frame_Shift_Del | DEL | 0.434 | 2 | - | - |
DAZL | - | - | - | - | 1 | Loss | - |
DCAF1 | - | - | - | - | 1 | Loss | - |
DCAF10 | - | - | - | - | 1 | Loss | - |
DCAF12 | - | - | - | - | 1 | Loss | - |
DCAF12L2 | p.P240L | Missense | SNP | 0.992 | ND | ND | - |
DCAF13 | - | - | - | - | 3 | Gain | - |
DCAF4L2 | - | - | - | - | 3 | Gain | - |
DCAF8L2 | p.G28R p.G319R | Missense Missense | SNP SNP | 1.000 1.000 | ND | ND | - |
DCDC1 | p.A730V | Missense | SNP | 0.540 | 2 | - | - |
DCHS1 | p.L1345Tfs*66 p.G1030Afs*31 | Frame_Shift_Ins Frame_Shift_Del | INS DEL | 0.246 0.090 | 2 | - | - |
DCHS2 | p.M967I | Missense | SNP | 0.344 | 2 | - | - |
DCLK1 | p.R389Q | Missense | SNP | 0.689 | 3 | Gain | - |
DCLK3 | - | - | - | - | 1 | Loss | - |
DCLRE1C | - | - | - | - | 3 | Gain | - |
DCP1A | - | - | - | - | 1 | Loss | - |
DCPS | - | - | - | - | 1 | Loss | - |
DCSTAMP | p.T5I | Missense | SNP | 0.291 | 3 | Gain | - |
DCT | - | - | - | - | 3 | Gain | - |
DCTN2 | p.D206Rfs*2 | Frame_Shift_Ins | INS | 0.280 | 2 | - | - |
DCTN3 | - | - | - | - | 1 | Loss | - |
DCTN4 | p.A168T | Missense | SNP | 0.559 | 2 | - | - |
DCTN6 | - | - | - | - | 1 | Loss | - |
DCUN1D2 | - | - | - | - | 3 | Gain | - |
DDC | p.E173* | Nonsense | SNP | 0.510 | 2 | - | - |
DDHD2 | - | - | - | - | 1 | Loss | - |
DDOST | p.S101F | Missense | SNP | 0.544 | 2 | - | - |
DDX10 | - | - | - | - | 1 | Loss | - |
DDX25 | p.S28F | Missense | SNP | 1.000 | 1 | Loss | - |
DDX27 | p.P648L | Missense | SNP | 0.354 | 2 | - | - |
DDX4 | p.L704Efs*16 | Frame_Shift_Del | DEL | 0.392 | 2 | - | - |
DDX43 | p.A62V | Missense | SNP | 0.500 | 2 | - | - |
DDX50 | p.D55N | Missense | SNP | 0.551 | 2 | - | - |
DDX51 | p.A63V | Missense | SNP | 0.511 | 2 | - | - |
DDX53 | p.L262F | Missense | SNP | 1.000 | ND | ND | - |
DDX58 | - | - | - | - | 1 | Loss | - |
DDX59 | p.P330Lfs*7 | Frame_Shift_Del | DEL | 0.342 | 2 | - | - |
DDX6 | - | - | - | - | 1 | Loss | - |
DECR1 | - | - | - | - | 3 | Gain | - |
DEFA4 | - | - | - | - | 1 | Loss | - |
DEFA5 | - | - | - | - | 1 | Loss | - |
DEFA6 | - | - | - | - | 1 | Loss | - |
DEFB1 | - | - | - | - | 1 | Loss | - |
DEFB103A | - | - | - | - | 1 | Loss | - |
DEFB103B | - | - | - | - | 1 | Loss | - |
DEFB104A | - | - | - | - | 1 | Loss | - |
DEFB104B | - | - | - | - | 1 | Loss | - |
DEFB105A | - | - | - | - | 1 | Loss | - |
DEFB105B | - | - | - | - | 1 | Loss | - |
DEFB106A | - | - | - | - | 1 | Loss | - |
DEFB106B | - | - | - | - | 1 | Loss | - |
DEFB107A | - | - | - | - | 1 | Loss | - |
DEFB107B | - | - | - | - | 1 | Loss | - |
DEFB128 | p.N26I | Missense | SNP | 0.600 | 2 | - | - |
DEFB134 | - | - | - | - | 1 | Loss | - |
DEFB135 | - | - | - | - | 1 | Loss | - |
DEFB136 | - | - | - | - | 1 | Loss | - |
DEFB4A | - | - | - | - | 1 | Loss | - |
DEFB4B | - | - | - | - | 1 | Loss | - |
DENND1C | p.S63Afs*49 | Frame_Shift_Del | DEL | 0.062 | 2 | - | - |
DENND3 | - | - | - | - | 3 | Gain | - |
DENND4A | p.G1893R | Missense | SNP | 0.390 | 2 | - | - |
DENND4C | - | - | - | - | 1 | Loss | - |
DENND5A | p.E788K | Missense | SNP | 0.490 | 2 | - | - |
DENND5B | p.L312I | Missense | SNP | 0.389 | 2 | - | - |
DENND6A | - | - | - | - | 1 | Loss | - |
DEPTOR | - | - | - | - | 3 | Gain | - |
DERL1 | - | - | - | - | 3 | Gain | - |
DGAT1 | - | - | - | - | 3 | Gain | - |
DGKG | p.G268E | Missense | SNP | 0.441 | 2 | - | - |
DGKH | - | - | - | - | 3 | Gain | - |
DGKI | p.K941E | Missense | SNP | 0.513 | 2 | - | - |
DHRS1 | p.P112S | Missense | SNP | 0.413 | 2 | - | - |
DHRS12 | - | - | - | - | 3 | Gain | - |
DHRS4 | p.P177L | Missense | SNP | 0.466 | 2 | - | - |
DHTKD1 | - | - | - | - | 3 | Gain | - |
DHX30 | - | - | - | - | 1 | Loss | - |
DHX38 | p.L767P | Missense | SNP | 0.407 | 2 | - | - |
DIAPH3 | - | - | - | - | 3 | Gain | - |
DIDO1 | p.A422T | Missense | SNP | 0.438 | 2 | - | - |
DIO1 | p.L75F | Missense | SNP | 0.376 | 2 | - | - |
DIP2C | - | - | - | - | 3 | Gain | - |
DIRAS2 | p.G194S | Missense | SNP | 0.443 | 2 | - | - |
DIS3 | - | - | - | - | 3 | Gain | - |
DISP1 | p.A1087V | Missense | SNP | 0.435 | 2 | - | - |
DISP3 | p.L148P p.P345S | Missense Missense | SNP SNP | 0.539 0.421 | 2 | - | - |
DIXDC1 | - | - | - | - | 1 | Loss | - |
DKK4 | - | - | - | - | 1 | Loss | - |
DLAT | - | - | - | - | 1 | Loss | - |
DLC1 | p.R542K | Missense | SNP | 1.000 | 1 | Loss | - |
DLEC1 | - | - | - | - | 1 | Loss | - |
DLEU7 | - | - | - | - | 3 | Gain | - |
DLG4 | p.L118P | Missense | SNP | 0.494 | 2 | - | - |
DLGAP2 | - | - | - | - | 1 | Loss | - |
DLGAP3 | p.W797R | Missense | SNP | 0.281 | 2 | - | - |
DMAC1 | - | - | - | - | 1 | Loss | - |
DMD | p.P3086L p.E2528K p.E1536K | Missense Missense Missense | SNP SNP SNP | 1.000 1.000 1.000 | ND | ND | - |
DMRT1 | - | - | - | - | 1 | Loss | - |
DMRT2 | - | - | - | - | 1 | Loss | - |
DMRT3 | - | - | - | - | 1 | Loss | - |
DMRTA1 | - | - | - | - | 1 | Loss | - |
DMTN | - | - | - | - | 1 | Loss | - |
DMXL1 | p.G2925S | Missense | SNP | 0.492 | 2 | - | - |
DNAH1 | - | - | - | - | 1 | Loss | - |
DNAH10 | p.G2514E p.D4216N | Missense Missense | SNP SNP | 0.497 0.599 | 2 | - | - |
DNAH11 | p.P2680S | Missense | SNP | 0.460 | 2 | - | - |
DNAH12 | - | - | - | - | 1 | Loss | - |
DNAH2 | p.R1991C p.P3833L p.T4149N | Missense Missense Missense | SNP SNP SNP | 0.589 0.416 0.418 | 2 | - | - |
DNAH3 | p.E2459K p.G2436E p.X1309_splice p.P303L p.V280M | Missense Missense Splice_Site Missense Missense | SNP SNP SNP SNP SNP | 0.519 0.518 0.458 0.510 0.420 | 2 | - | - |
DNAH5 | p.G4490E | Missense | SNP | 0.251 | 4 | Gain | - |
DNAH6 | p.R2028K p.G4000E | Missense Missense | SNP SNP | 0.548 0.538 | 2 | - | - |
DNAH7 | p.A3007Pfs*6 p.E2144K | Frame_Shift_Del Missense | DEL SNP | 0.439 0.442 | 2 | - | - |
DNAI1 | - | - | - | - | 1 | Loss | - |
DNAJA1 | - | - | - | - | 1 | Loss | - |
DNAJB5 | p.E5K | Missense | SNP | 1.000 | 1 | Loss | - |
DNAJC15 | - | - | - | - | 3 | Gain | - |
DNAJC16 | p.P161S p.E439K | Missense Missense | SNP SNP | 0.484 0.470 | 2 | - | - |
DNAJC21 | - | - | - | - | 4 | Gain | - |
DNAJC24 | p.I68Nfs*5 | Frame_Shift_Ins | INS | 0.306 | 2 | - | - |
DNAJC3 | p.P490L | Missense | SNP | 0.363 | 3 | Gain | - |
DNAJC5B | - | - | - | - | 3 | Gain | - |
DNAJC6 | p.D161E | Missense | SNP | 0.433 | 2 | - | - |
DNAJC9 | p.W97* | Nonsense | SNP | 0.578 | 2 | - | - |
DNASE1L3 | - | - | - | - | 1 | Loss | - |
DNER | p.P102L | Missense | SNP | 0.481 | 2 | - | - |
DNHD1 | p.L2370F | Missense | SNP | 0.450 | 2 | - | - |
DNM1L | p.R416C | Missense | SNP | 0.448 | 2 | - | - |
DNM2 | p.K577N | Missense | SNP | 0.519 | 2 | - | - |
DNMBP | p.S146F | Missense | SNP | 0.513 | 2 | - | - |
DOCK2 | p.Q1412* p.X1461_splice | Nonsense Splice_Site | SNP SNP | 0.462 0.490 | 2 | - | - |
DOCK3 | - | - | - | - | 1 | Loss | - |
DOCK5 | p.S1802R | Missense | SNP | 0.475 | 1 | Loss | - |
DOCK8 | - | - | - | - | 1 | Loss | - |
DOCK9 | p.F1334Lfs*19 | Frame_Shift_Del | DEL | 0.216 | 3 | Gain | - |
DOK1 | p.L12Cfs*26 | Frame_Shift_Del | DEL | 0.497 | 2 | - | - |
DOK2 | - | - | - | - | 1 | Loss | - |
DOPEY2 | p.F847Lfs*7 | Frame_Shift_Del | DEL | 0.526 | ND | ND | - |
DPAGT1 | - | - | - | - | 1 | Loss | - |
DPCR1 | p.E603K p.G704E p.S1050L | Missense Missense Missense | SNP SNP SNP | 0.514 0.528 0.514 | ND | ND | - |
DPH3 | - | - | - | - | 1 | Loss | - |
DPP10 | p.R7H | Missense | SNP | 0.520 | 2 | - | - |
DPP6 | p.R765K | Missense | SNP | 0.504 | 2 | - | - |
DPY19L4 | - | - | - | - | 3 | Gain | - |
DPYS | - | - | - | - | 3 | Gain | - |
DPYSL2 | - | - | - | - | 1 | Loss | - |
DRAM1 | p.V47I | Missense | SNP | 0.431 | 2 | - | - |
DRD1 | p.K138Rfs*6 | Frame_Shift_Del | DEL | 0.446 | 2 | - | - |
DRD2 | - | - | - | - | 1 | Loss | - |
DROSHA | - | - | - | - | 4 | Gain | - |
DSC3 | p.S526L | Missense | SNP | 0.592 | 2 | - | - |
DSCAM | p.E572Gfs*32 | Frame_Shift_Ins | INS | 0.310 | 2 | - | - |
DSCAML1 | - | - | - | - | 1 | Loss | - |
DSCC1 | - | - | - | - | 3 | Gain | - |
DSP | p.S2257L | Missense | SNP | 0.477 | 2 | - | - |
DST | p.K3804Nfs*2 | Frame_Shift_Del | DEL | 0.358 | 2 | - | - |
DUSP26 | - | - | - | - | 1 | Loss | - |
DUSP4 | - | - | - | - | 1 | Loss | - |
DUSP7 | - | - | - | - | 1 | Loss | - |
DYNC1LI1 | - | - | - | - | 1 | Loss | - |
DYNC2LI1 | p.R232C | Missense | SNP | 0.099 | 2 | - | - |
DYRK3 | p.T456I | Missense | SNP | 0.431 | 2 | - | - |
DYX1C1 | p.I195* | Frame_Shift_Del | DEL | 0.380 | ND | ND | - |
DZIP1 | p.N761S | Missense | SNP | 0.141 | 3 | Gain | - |
E2F5 | - | - | - | - | 3 | Gain | - |
EAF1 | - | - | - | - | 1 | Loss | - |
EBAG9 | - | - | - | - | 3 | Gain | - |
EBF2 | - | - | - | - | 1 | Loss | - |
EBLN2 | - | - | - | - | 1 | Loss | - |
EBPL | p.F172Lfs*7 | Frame_Shift_Del | DEL | 0.567 | 3 | Gain | - |
ECHDC3 | - | - | - | - | 3 | Gain | - |
ECHS1 | p.A84Pfs*23 | Frame_Shift_Del | DEL | 0.541 | 2 | - | - |
EDAR | - | - | - | - | 3 | Gain | - |
EDNRB | - | - | - | - | 3 | Gain | - |
EEF1AKMT1 | p.I43M | Missense | SNP | 0.451 | 2 | - | - |
EEF1D | - | - | - | - | 3 | Gain | - |
EFCAB1 | - | - | - | - | 3 | Gain | - |
EFCAB6 | p.D113N | Missense | SNP | 0.121 | 2 | - | - |
EFCAB8 | p.S1198F | Missense | SNP | 0.461 | 2 | - | - |
EFHB | - | - | - | - | 1 | Loss | - |
EFNA5 | p.E129K | Missense | SNP | 0.455 | 2 | - | - |
EFNB2 | - | - | - | - | 3 | Gain | - |
EFR3A | - | - | - | - | 3 | Gain | - |
EGFL7 | p.R184Gfs*13 | Frame_Shift_Del | DEL | 0.471 | 2 | - | - |
EGFLAM | p.I41N | Missense | SNP | 0.237 | 4 | Gain | - |
EGR3 | - | - | - | - | 1 | Loss | - |
EHBP1L1 | p.T115M | Missense | SNP | 0.505 | 2 | - | - |
EI24 | - | - | - | - | 1 | Loss | - |
EIF1B | - | - | - | - | 1 | Loss | - |
EIF2B2 | p.H188Y | Missense | SNP | 0.469 | 2 | - | - |
EIF3D | p.P340L | Missense | SNP | 0.368 | 2 | - | - |
EIF3E | - | - | - | - | 3 | Gain | - |
EIF3H | - | - | - | - | 3 | Gain | - |
EIF4E3 | - | - | - | - | 1 | Loss | - |
EIF4EBP1 | - | - | - | - | 1 | Loss | - |
EIF5B | p.K98Rfs*83 | Frame_Shift_Del | DEL | 0.286 | 2 | - | - |
ELAC1 | p.I332N | Missense | SNP | 0.404 | 2 | - | - |
ELAVL2 | - | - | - | - | 1 | Loss | - |
ELF1 | - | - | - | - | 3 | Gain | - |
ELK1 | p.G424R | Missense | SNP | 1.000 | ND | ND | - |
ELK3 | p.V176Rfs*14 | Frame_Shift_Ins | INS | 0.323 | 2 | - | - |
ELMOD1 | - | - | - | - | 1 | Loss | - |
ELOC | - | - | - | - | 3 | Gain | - |
ELP3 | - | - | - | - | 1 | Loss | - |
ELP4 | p.S48P p.V108A | Missense Missense | SNP SNP | 0.342 0.516 | 2 | - | - |
ELP6 | - | - | - | - | 1 | Loss | - |
EMC10 | p.A234G | Missense | SNP | 0.620 | 2 | - | - |
EMC2 | - | - | - | - | 3 | Gain | - |
EMC3 | - | - | - | - | 1 | Loss | - |
EN2 | p.D244N | Missense | SNP | 0.481 | 2 | - | - |
ENDOD1 | p.R432C | Missense | SNP | 0.436 | 2 | - | - |
ENHO | - | - | - | - | 1 | Loss | - |
ENO3 | p.S177F p.E219K | Missense Missense | SNP SNP | 0.498 0.468 | 2 | - | - |
ENOX1 | - | - | - | - | 3 | Gain | - |
ENPP2 | p.G528R | Missense | SNP | 0.351 | 3 | Gain | - |
ENPP3 | p.R70L | Missense | SNP | 0.445 | 2 | - | - |
ENTPD3 | - | - | - | - | 1 | Loss | - |
ENTPD4 | - | - | - | - | 1 | Loss | - |
ENY2 | - | - | - | - | 3 | Gain | - |
EOGT | - | - | - | - | 1 | Loss | - |
EOMES | - | - | - | - | 1 | Loss | - |
EPAS1 | p.P397H | Missense | SNP | 0.492 | 2 | - | - |
EPB41L4B | p.L787F | Missense | SNP | 0.985 | 2 | - | - |
EPB41L5 | p.R131C | Missense | SNP | 0.608 | 2 | - | - |
EPHA5 | p.R621G | Missense | SNP | 0.114 | 2 | - | - |
EPHX2 | - | - | - | - | 1 | Loss | - |
EPM2AIP1 | - | - | - | - | 1 | Loss | - |
EPN1 | p.P386Lfs*142 | Frame_Shift_Del | DEL | 0.431 | 2 | - | - |
EPPK1 | - | - | - | - | 3 | Gain | - |
EPSTI1 | - | - | - | - | 3 | Gain | - |
EQTN | - | - | - | - | 1 | Loss | - |
ERAP2 | p.Y184F | Missense | SNP | 0.570 | 2 | - | - |
ERBB2 | p.D1012N | Missense | SNP | 0.461 | 2 | - | - |
ERC2 | - | - | - | - | 1 | Loss | - |
ERCC5 | p.A525T | Missense | SNP | 0.290 | 3 | Gain | - |
ERI1 | - | - | - | - | 1 | Loss | - |
ERICH1 | - | - | - | - | 1 | Loss | - |
ERICH3 | p.T766Rfs*23 p.R66Q | Frame_Shift_Del Missense | DEL SNP | 0.500 0.412 | 2 | - | - |
ERICH5 | - | - | - | - | 3 | Gain | - |
ERICH6B | - | - | - | - | 3 | Gain | - |
ERLIN2 | p.P97S | Missense | SNP | 1.000 | 1 | Loss | - |
ERMP1 | - | - | - | - | 1 | Loss | - |
ERO1A | p.M342Cfs*33 | Frame_Shift_Del | DEL | 0.565 | 2 | - | - |
ESAM | - | - | - | - | 1 | Loss | - |
ESCO2 | - | - | - | - | 1 | Loss | - |
ESD | - | - | - | - | 3 | Gain | - |
ESPL1 | p.D577N | Missense | SNP | 0.500 | 2 | - | - |
ESR2 | p.P106S | Missense | SNP | 0.525 | 2 | - | - |
ESRP1 | - | - | - | - | 3 | Gain | - |
ESYT3 | p.P369F | Missense | MNP | 0.426 | 2 | - | - |
ETF1 | p.A187V | Missense | SNP | 0.372 | 2 | - | - |
ETNK2 | p.G290S | Missense | SNP | 0.462 | 2 | - | - |
ETS1 | - | - | - | - | 1 | Loss | - |
EVC2 | p.Q444H | Missense | SNP | 0.398 | 2 | - | - |
EXOC3 | - | - | - | - | 3 | Gain | - |
EXOC8 | p.K559Tfs*9 | Frame_Shift_Ins | INS | 0.211 | 2 | - | - |
EXOG | - | - | - | - | 1 | Loss | - |
EXOSC3 | - | - | - | - | 1 | Loss | - |
EXOSC4 | - | - | - | - | 3 | Gain | - |
EXOSC7 | - | - | - | - | 1 | Loss | - |
EXOSC8 | - | - | - | - | 3 | Gain | - |
EXPH5 | - | - | - | - | 1 | Loss | - |
EXT1 | - | - | - | - | 3 | Gain | - |
EXTL1 | p.V187A | Missense | SNP | 0.515 | 2 | - | - |
EXTL3 | - | - | - | - | 1 | Loss | - |
EYA1 | p.G194K | Missense | MNP | 0.340 | 3 | Gain | - |
EYA4 | p.G359E | Missense | SNP | 0.538 | 2 | - | - |
EYS | p.L2286F | Missense | SNP | 0.515 | 2 | - | - |
F10 | - | - | - | - | 3 | Gain | - |
F7 | - | - | - | - | 3 | Gain | - |
F8 | p.E1101K | Missense | SNP | 0.992 | ND | ND | - |
FAAP100 | p.C15Y | Missense | SNP | 0.410 | 2 | - | - |
FABP12 | - | - | - | - | 3 | Gain | - |
FABP4 | - | - | - | - | 3 | Gain | - |
FABP5 | - | - | - | - | 3 | Gain | - |
FABP9 | - | - | - | - | 3 | Gain | - |
FAM107A | - | - | - | - | 1 | Loss | - |
FAM107B | p.T104M | Missense | SNP | 0.210 | 3 | Gain | - |
FAM110B | p.P216L | Missense | SNP | 0.343 | 3 | Gain | - |
FAM118A | p.R78W | Missense | SNP | 0.458 | 2 | - | - |
FAM118B | - | - | - | - | 1 | Loss | - |
FAM124A | - | - | - | - | 3 | Gain | - |
FAM135B | p.V1308I p.S1262C | Missense Missense | SNP SNP | 0.342 0.675 | 3 | Gain | - |
FAM149A | p.T39A | Missense | SNP | 0.491 | 2 | - | - |
FAM155A | - | - | - | - | 3 | Gain | - |
FAM160B2 | - | - | - | - | 1 | Loss | - |
FAM162B | p.P36S | Missense | SNP | 0.609 | 2 | - | - |
FAM166B | - | - | - | - | 1 | Loss | - |
FAM167A | - | - | - | - | 1 | Loss | - |
FAM170A | p.G36E | Missense | SNP | 0.487 | 2 | - | - |
FAM171A1 | p.R575K | Missense | SNP | 0.329 | 3 | Gain | - |
FAM173B | - | - | - | - | 4 | Gain | - |
FAM189A1 | p.*540Lext*74 | Nonstop | SNP | 0.474 | 2 | - | - |
FAM189A2 | p.G179R | Missense | SNP | 0.444 | 2 | - | - |
FAM198A | - | - | - | - | 1 | Loss | - |
FAM19A1 | - | - | - | - | 1 | Loss | - |
FAM19A4 | - | - | - | - | 1 | Loss | - |
FAM205A | - | - | - | - | 1 | Loss | - |
FAM205C | - | - | - | - | 1 | Loss | - |
FAM208A | - | - | - | - | 1 | Loss | - |
FAM208B | - | - | - | - | 3 | Gain | - |
FAM214B | - | - | - | - | 1 | Loss | - |
FAM216B | - | - | - | - | 3 | Gain | - |
FAM219A | - | - | - | - | 1 | Loss | - |
FAM221B | - | - | - | - | 1 | Loss | - |
FAM240A | - | - | - | - | 1 | Loss | - |
FAM243B | - | - | - | - | 1 | Loss | - |
FAM26E | p.F246Lfs*75 | Frame_Shift_Del | DEL | 0.468 | ND | ND | - |
FAM3D | - | - | - | - | 1 | Loss | - |
FAM46C | p.R58W | Missense | SNP | 0.482 | ND | ND | - |
FAM47A | p.K484N p.R361C | Missense Missense | SNP SNP | 1.000 1.000 | ND | ND | - |
FAM47B | p.E75K p.V638A | Missense Missense | SNP SNP | 0.990 1.000 | ND | ND | - |
FAM47C | p.P200Rfs*625 | Frame_Shift_Del | DEL | 0.940 | ND | ND | - |
FAM49B | - | - | - | - | 3 | Gain | - |
FAM65B | p.L772F | Missense | SNP | 0.457 | ND | ND | - |
FAM69C | p.D141N;p.Q140H | Missense | MNP | 0.500 | 2 | - | - |
FAM71F2 | p.R5K | Missense | SNP | 0.507 | 2 | - | - |
FAM83A | p.S47Ffs*2 | Frame_Shift_Ins | INS | 0.335 | 3 | Gain | - |
FAM83H | - | - | - | - | 3 | Gain | - |
FAM84B | - | - | - | - | 3 | Gain | - |
FAM86B1 | - | - | - | - | 1 | Loss | - |
FAM91A1 | - | - | - | - | 3 | Gain | - |
FAM92A | - | - | - | - | 3 | Gain | - |
FAM95C | - | - | - | - | 1 | Loss | - |
FANCD2 | - | - | - | - | 1 | Loss | - |
FANCD2OS | - | - | - | - | 1 | Loss | - |
FANCG | - | - | - | - | 1 | Loss | - |
FAP | p.C23Y | Missense | SNP | 0.468 | 2 | - | - |
FARP1 | - | - | - | - | 3 | Gain | - |
FARP2 | p.G189C | Missense | SNP | 0.507 | 2 | - | - |
FASN | p.L1353Sfs*20 p.R1180L | Frame_Shift_Del Missense | DEL SNP | 0.586 0.336 | 2 | - | - |
FASTKD3 | - | - | - | - | 4 | Gain | - |
FAT1 | p.N126Kfs*3 p.G4102R | Frame_Shift_Ins Missense | INS SNP | 0.269 0.489 | 2 | - | - |
FAT2 | p.V2686Yfs*41 p.L1095Wfs*11 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.399 0.422 | 2 | - | - |
FAT3 | p.P894L p.R3634H p.P4081S | Missense Missense Missense | SNP SNP SNP | 0.404 0.370 0.488 | 2 | - | - |
FAXDC2 | p.T259A | Missense | SNP | 0.591 | 2 | - | - |
FBH1 | - | - | - | - | 3 | Gain | - |
FBLN2 | - | - | - | - | 1 | Loss | - |
FBLN5 | p.P216L | Missense | SNP | 0.545 | 2 | - | - |
FBLN7 | p.H361Afs*125 | Frame_Shift_Ins | INS | 0.297 | 2 | - | - |
FBN1 | p.G2199D p.F2107S | Missense Missense | SNP SNP | 0.348 0.504 | 2 | - | - |
FBN3 | p.E1420K | Missense | SNP | 0.503 | 2 | - | - |
FBXL2 | - | - | - | - | 1 | Loss | - |
FBXL3 | - | - | - | - | 3 | Gain | - |
FBXL6 | - | - | - | - | 3 | Gain | - |
FBXL7 | - | - | - | - | 4 | Gain | - |
FBXO10 | - | - | - | - | 1 | Loss | - |
FBXO15 | p.R379I | Missense | SNP | 0.427 | 2 | - | - |
FBXO16 | - | - | - | - | 1 | Loss | - |
FBXO17 | p.F91Y | Missense | SNP | 0.496 | 2 | - | - |
FBXO25 | - | - | - | - | 1 | Loss | - |
FBXO3 | p.Y380H | Missense | SNP | 0.408 | 2 | - | - |
FBXO32 | - | - | - | - | 3 | Gain | - |
FBXO38 | p.M30T | Missense | SNP | 0.336 | 2 | - | - |
FBXO39 | p.T335I | Missense | SNP | 0.638 | 2 | - | - |
FBXO4 | - | - | - | - | 4 | Gain | - |
FBXO43 | - | - | - | - | 3 | Gain | - |
FBXO46 | p.P424Rfs*34 | Frame_Shift_Del | DEL | 0.313 | 2 | - | - |
FBXW10 | p.G298R | Missense | SNP | 0.381 | 2 | - | - |
FBXW12 | - | - | - | - | 1 | Loss | - |
FCGBP | p.L4042I | Missense | SNP | 0.432 | 2 | - | - |
FCN1 | p.R324W | Missense | SNP | 0.508 | 2 | - | - |
FCRL5 | p.H788Mfs*6 p.R751C | Frame_Shift_Del Missense | DEL SNP | 0.455 0.493 | 2 | - | - |
FDCSP | p.D33N | Missense | SNP | 0.511 | 2 | - | - |
FDFT1 | - | - | - | - | 1 | Loss | - |
FDX1 | - | - | - | - | 1 | Loss | - |
FDXACB1 | - | - | - | - | 1 | Loss | - |
FER1L5 | p.E1036K | Missense | SNP | 0.509 | 2 | - | - |
FER1L6 | p.G588R | Missense | SNP | 0.608 | 3 | Gain | - |
FERMT3 | p.S255N p.G396R | Missense Missense | SNP SNP | 0.496 0.529 | 2 | - | - |
FEZ1 | - | - | - | - | 1 | Loss | - |
FEZF2 | - | - | - | - | 1 | Loss | - |
FFAR2 | p.G300R | Missense | SNP | 0.480 | 2 | - | - |
FGA | p.M858I | Missense | SNP | 0.400 | 2 | - | - |
FGB | p.D346G | Missense | SNP | 0.445 | 2 | - | - |
FGD3 | p.V297M | Missense | SNP | 0.481 | 2 | - | - |
FGD5 | - | - | - | - | 1 | Loss | - |
FGF10 | - | - | - | - | 4 | Gain | - |
FGF14 | - | - | - | - | 3 | Gain | - |
FGF17 | - | - | - | - | 1 | Loss | - |
FGF20 | - | - | - | - | 1 | Loss | - |
FGF3 | p.I78K | Missense | SNP | 0.120 | 2 | - | - |
FGF9 | - | - | - | - | 3 | Gain | - |
FGFR1 | - | - | - | - | 1 | Loss | - |
FGFR4 | p.R758H | Missense | SNP | 0.562 | 2 | - | - |
FGGY | p.V140* | Frame_Shift_Del | DEL | 0.087 | 2 | - | - |
FGL1 | p.N182Ifs*21 | Frame_Shift_Del | DEL | 0.886 | 1 | Loss | - |
FHIT | - | - | - | - | 1 | Loss | - |
FIBCD1 | p.F350L | Missense | SNP | 0.521 | 2 | - | - |
FILIP1L | p.K749Nfs*2 | Frame_Shift_Del | DEL | 0.421 | 2 | - | - |
FKBP9 | p.L30M | Missense | SNP | 0.473 | 2 | - | - |
FLG | p.S3580F | Missense | SNP | 0.489 | 2 | - | - |
FLG2 | p.A818S p.H735Y | Missense Missense | SNP SNP | 0.462 0.481 | 2 | - | - |
FLI1 | - | - | - | - | 1 | Loss | - |
FLNB | - | - | - | - | 1 | Loss | - |
FLT1 | - | - | - | - | 3 | Gain | - |
FLT3 | - | - | - | - | 3 | Gain | - |
FLYWCH1 | p.P4L | Missense | SNP | 0.472 | 2 | - | - |
FMN1 | p.G218E | Missense | SNP | 0.408 | 2 | - | - |
FMN2 | p.S747F | Missense | SNP | 0.510 | 2 | - | - |
FNBP4 | p.T99I | Missense | SNP | 0.448 | 2 | - | - |
FNDC3A | - | - | - | - | 3 | Gain | - |
FNTA | - | - | - | - | 1 | Loss | - |
FOCAD | - | - | - | - | 1 | Loss | - |
FOXD4L5 | - | - | - | - | 1 | Loss | - |
FOXH1 | - | - | - | - | 3 | Gain | - |
FOXL1 | p.G290N | Missense | MNP | 0.464 | 2 | - | - |
FOXN2 | p.K107Nfs*60 | Frame_Shift_Del | DEL | 0.428 | 2 | - | - |
FOXO1 | - | - | - | - | 3 | Gain | - |
FOXO6 | p.R463* | Nonsense | SNP | 0.420 | 2 | - | - |
FOXP1 | - | - | - | - | 1 | Loss | - |
FOXR1 | - | - | - | - | 1 | Loss | - |
FOXRED1 | p.T435I | Missense | SNP | 1.000 | 1 | Loss | - |
FOXS1 | p.T235M | Missense | SNP | 0.470 | 2 | - | - |
FP565260.1 | - | - | - | - | 1 | Loss | - |
FP565260.2 | - | - | - | - | 1 | Loss | - |
FP565260.3 | - | - | - | - | 1 | Loss | - |
FP565260.4 | - | - | - | - | 1 | Loss | - |
FP565260.6 | - | - | - | - | 1 | Loss | - |
FPGT-TNNI3K | p.T212S | Missense | SNP | 0.534 | 2 | - | - |
FRAS1 | p.X3168_splice | Splice_Site | SNP | 0.439 | 2 | - | - |
FREM1 | - | - | - | - | 1 | Loss | - |
FREM2 | - | - | - | - | 3 | Gain | - |
FREM3 | p.P67L | Missense | SNP | 0.519 | 2 | - | - |
FRG2C | - | - | - | - | 1 | Loss | - |
FRMD4A | - | - | - | - | 3 | Gain | - |
FRMD4B | - | - | - | - | 1 | Loss | - |
FRMPD1 | - | - | - | - | 1 | Loss | - |
FRY | - | - | - | - | 3 | Gain | - |
FSBP | - | - | - | - | 3 | Gain | - |
FSTL1 | p.D186N | Missense | SNP | 0.598 | 2 | - | - |
FSTL4 | p.G790Vfs*6 p.Q530* | Frame_Shift_Del Nonsense | DEL SNP | 0.508 0.459 | 2 | - | - |
FSTL5 | p.Q123Tfs*9 | Frame_Shift_Ins | INS | 0.352 | 2 | - | - |
FTSJ3 | p.R634C | Missense | SNP | 0.371 | 2 | - | - |
FUCA1 | p.P236L | Missense | SNP | 0.482 | 2 | - | - |
FUT10 | - | - | - | - | 1 | Loss | - |
FXYD2 | - | - | - | - | 1 | Loss | - |
FXYD6 | - | - | - | - | 1 | Loss | - |
FXYD6-FXYD2 | - | - | - | - | 1 | Loss | - |
FYB | p.K293Rfs*6 | Frame_Shift_Del | DEL | 0.078 | ND | ND | - |
FYB1 | - | - | - | - | 4 | Gain | - |
FYCO1 | - | - | - | - | 1 | Loss | - |
FZD3 | - | - | - | - | 1 | Loss | - |
FZD6 | - | - | - | - | 3 | Gain | - |
FZR1 | p.V178M | Missense | SNP | 0.479 | 2 | - | - |
G2E3 | p.H301Tfs*7 | Frame_Shift_Ins | INS | 0.051 | 2 | - | - |
G3BP2 | p.R132C | Missense | SNP | 0.369 | 2 | - | - |
GABPA | p.L406F | Missense | SNP | 1.000 | 2 | - | - |
GABRA1 | p.P79L | Missense | SNP | 0.455 | 2 | - | - |
GABRD | p.A441V | Missense | SNP | 0.524 | 2 | - | - |
GABRG1 | p.G271R | Missense | SNP | 0.509 | 2 | - | - |
GABRG2 | p.R344K | Missense | SNP | 0.497 | 2 | - | - |
GADL1 | - | - | - | - | 1 | Loss | - |
GAL3ST1 | p.K318N | Missense | SNP | 0.196 | 2 | - | - |
GALNT10 | p.E494D | Missense | SNP | 0.309 | 2 | - | - |
GALNT15 | - | - | - | - | 1 | Loss | - |
GALT | - | - | - | - | 1 | Loss | - |
GAMT | p.R63Pfs*22 | Frame_Shift_Ins | INS | 0.310 | 2 | - | - |
GAR1 | - | - | - | - | 3 | Gain | - |
GAS2 | p.D111E p.E170K | Missense Missense | SNP SNP | 0.505 0.397 | 2 | - | - |
GAS6 | - | - | - | - | 3 | Gain | - |
GATA3 | p.P135Rfs*60 p.F410L | Frame_Shift_Del Missense | DEL SNP | 0.199 0.361 | 3 | Gain | - |
GATA4 | - | - | - | - | 1 | Loss | - |
GATD3B | - | - | - | - | 1 | Loss | - |
GBA2 | - | - | - | - | 1 | Loss | - |
GBE1 | - | - | - | - | 1 | Loss | - |
GDAP1 | - | - | - | - | 3 | Gain | - |
GDF6 | - | - | - | - | 3 | Gain | - |
GDI2 | - | - | - | - | 3 | Gain | - |
GDNF | p.A34V | Missense | SNP | 0.729 | 4 | Gain | - |
GEM | - | - | - | - | 3 | Gain | - |
GFAP | p.R36H | Missense | SNP | 0.563 | 2 | - | - |
GFRA2 | - | - | - | - | 1 | Loss | - |
GGACT | - | - | - | - | 3 | Gain | - |
GGCX | p.S398F | Missense | SNP | 0.490 | 2 | - | - |
GGH | - | - | - | - | 3 | Gain | - |
GHR | - | - | - | - | 4 | Gain | - |
GHRL | - | - | - | - | 1 | Loss | - |
GIMAP6 | p.L115F | Missense | SNP | 0.458 | 2 | - | - |
GINS4 | - | - | - | - | 1 | Loss | - |
GK5 | p.H172N | Missense | SNP | 0.485 | 2 | - | - |
GLB1 | - | - | - | - | 1 | Loss | - |
GLB1L2 | p.M326I | Missense | SNP | 1.000 | 1 | Loss | - |
GLB1L3 | - | - | - | - | 1 | Loss | - |
GLDC | - | - | - | - | 1 | Loss | - |
GLI4 | - | - | - | - | 3 | Gain | - |
GLIPR2 | - | - | - | - | 1 | Loss | - |
GLIS3 | - | - | - | - | 1 | Loss | - |
GLRA1 | p.D85N | Missense | SNP | 0.618 | 2 | - | - |
GLRA2 | p.M254I | Missense | SNP | 0.982 | ND | ND | - |
GLT8D1 | - | - | - | - | 1 | Loss | - |
GLYCTK | - | - | - | - | 1 | Loss | - |
GLYR1 | p.R381Afs*20 | Frame_Shift_Del | DEL | 0.396 | 2 | - | - |
GML | - | - | - | - | 3 | Gain | - |
GMPPB | - | - | - | - | 1 | Loss | - |
GMPR | p.P49S | Missense | SNP | 0.515 | 2 | - | - |
GNAI2 | - | - | - | - | 1 | Loss | - |
GNAT1 | - | - | - | - | 1 | Loss | - |
GNB3 | p.S122F | Missense | SNP | 0.450 | 2 | - | - |
GNE | - | - | - | - | 1 | Loss | - |
GNG12 | p.T68Nfs*9 | Frame_Shift_Ins | INS | 0.271 | 2 | - | - |
GNL3 | - | - | - | - | 1 | Loss | - |
GNRH1 | - | - | - | - | 1 | Loss | - |
GOLGA2 | p.Y989Tfs*9 | Frame_Shift_Del | DEL | 0.154 | 2 | - | - |
GOLGA4 | p.A1738T | Missense | SNP | 0.990 | 1 | Loss | - |
GOLGA7 | - | - | - | - | 1 | Loss | - |
GOLGB1 | p.E1031K | Missense | SNP | 0.478 | 2 | - | - |
GOLPH3 | - | - | - | - | 4 | Gain | - |
GORASP1 | p.T425M | Missense | SNP | 0.969 | 1 | Loss | - |
GOT1L1 | - | - | - | - | 1 | Loss | - |
GP2 | p.G389W | Missense | SNP | 0.553 | 2 | - | - |
GPAA1 | - | - | - | - | 3 | Gain | - |
GPALPP1 | - | - | - | - | 3 | Gain | - |
GPAT4 | - | - | - | - | 1 | Loss | - |
GPATCH3 | p.F33S | Missense | SNP | 0.449 | 2 | - | - |
GPC5 | - | - | - | - | 3 | Gain | - |
GPC6 | - | - | - | - | 3 | Gain | - |
GPD1L | - | - | - | - | 1 | Loss | - |
GPHB5 | p.C36S | Missense | SNP | 0.498 | 2 | - | - |
GPHN | p.L289Afs*59 | Frame_Shift_Ins | INS | 0.294 | 2 | - | - |
GPIHBP1 | - | - | - | - | 3 | Gain | - |
GPN1 | p.E304Tfs*31 | Frame_Shift_Del | DEL | 0.362 | 2 | - | - |
GPR12 | - | - | - | - | 3 | Gain | - |
GPR15 | p.A224V | Missense | SNP | 0.492 | 2 | - | - |
GPR156 | p.F612C | Missense | SNP | 0.511 | 2 | - | - |
GPR158 | p.E804K | Missense | SNP | 0.465 | 2 | - | - |
GPR179 | p.F613del | In_Frame_Del | DEL | 0.461 | 2 | - | - |
GPR18 | p.L238del | In_Frame_Del | DEL | 0.283 | 3 | Gain | - |
GPR180 | - | - | - | - | 3 | Gain | - |
GPR183 | - | - | - | - | 3 | Gain | - |
GPR20 | - | - | - | - | 3 | Gain | - |
GPR27 | - | - | - | - | 1 | Loss | - |
GPR52 | p.E248K | Missense | SNP | 0.448 | 2 | - | - |
GPR62 | - | - | - | - | 1 | Loss | - |
GPRC5D | p.D308N | Missense | SNP | 0.444 | 2 | - | - |
GPRIN3 | p.N429K | Missense | SNP | 0.451 | 2 | - | - |
GPT | - | - | - | - | 3 | Gain | - |
GPX1 | - | - | - | - | 1 | Loss | - |
GRAMD1B | - | - | - | - | 1 | Loss | - |
GRASP | p.E214Rfs*141 | Frame_Shift_Ins | INS | 0.339 | 2 | - | - |
GREB1L | p.G2E p.E263K | Missense Missense | SNP SNP | 0.467 0.522 | 2 | - | - |
GRHL2 | - | - | - | - | 3 | Gain | - |
GRHPR | - | - | - | - | 1 | Loss | - |
GRIA2 | p.P403S | Missense | SNP | 0.433 | 2 | - | - |
GRIA4 | - | - | - | - | 1 | Loss | - |
GRID1 | p.X666_splice | Splice_Site | SNP | 0.473 | 2 | - | - |
GRID2 | p.M693I | Missense | SNP | 0.469 | 2 | - | - |
GRIK1 | p.D370N | Missense | SNP | 1.000 | 2 | - | - |
GRIK2 | p.N849Tfs*14 p.V766I | Frame_Shift_Del Missense | DEL SNP | 0.111 0.500 | 2 | - | - |
GRIK3 | p.R9Q | Missense | SNP | 0.469 | 2 | - | - |
GRIK4 | - | - | - | - | 1 | Loss | - |
GRIN2A | p.P985L | Missense | SNP | 0.395 | 2 | - | - |
GRINA | - | - | - | - | 3 | Gain | - |
GRIP1 | p.P715S | Missense | SNP | 0.523 | 2 | - | - |
GRIP2 | - | - | - | - | 1 | Loss | - |
GRK1 | - | - | - | - | 3 | Gain | - |
GRM1 | p.S1064Y p.A1156T | Missense Missense | SNP SNP | 0.504 0.581 | 2 | - | - |
GRM2 | - | - | - | - | 1 | Loss | - |
GRM7 | - | - | - | - | 1 | Loss | - |
GRP | - | - | - | - | 1 | Loss | - |
GRTP1 | - | - | - | - | 3 | Gain | - |
GSDMC | - | - | - | - | 3 | Gain | - |
GSDMD | - | - | - | - | 3 | Gain | - |
GSG1 | p.R144Q | Missense | SNP | 0.362 | 2 | - | - |
GSG1L2 | p.G285N | Missense | MNP | 0.358 | 2 | - | - |
GSG2 | p.E347K | Missense | SNP | 0.469 | ND | ND | - |
GSR | - | - | - | - | 1 | Loss | - |
GSX1 | - | - | - | - | 3 | Gain | - |
GTF2A2 | p.Q16R | Missense | SNP | 0.404 | 2 | - | - |
GTF2E2 | - | - | - | - | 1 | Loss | - |
GTF2F2 | - | - | - | - | 3 | Gain | - |
GTF2IRD1 | p.E324K | Missense | SNP | 0.427 | 2 | - | - |
GTF3A | - | - | - | - | 3 | Gain | - |
GTF3C1 | p.S767Vfs*7 | Frame_Shift_Del | DEL | 0.523 | 2 | - | - |
GTPBP4 | - | - | - | - | 3 | Gain | - |
GTSE1 | p.Y102H | Missense | SNP | 0.454 | 2 | - | - |
GUCY1A1 | - | - | - | - | 1 | Loss | - |
GUCY1A2 | - | - | - | - | 1 | Loss | - |
GUCY1A3 | p.P60A | Missense | SNP | 0.195 | ND | ND | - |
GUCY1B1 | - | - | - | - | 1 | Loss | - |
GXYLT1 | p.H327Sfs*2 | Frame_Shift_Ins | INS | 0.349 | 2 | - | - |
GXYLT2 | - | - | - | - | 1 | Loss | - |
H2AFX | - | - | - | - | 1 | Loss | - |
H2BFS | - | - | - | - | 1 | Loss | - |
HAAO | p.X27_splice | Splice_Site | SNP | 0.409 | 2 | - | - |
HACD1 | - | - | - | - | 3 | Gain | - |
HACD4 | - | - | - | - | 1 | Loss | - |
HACL1 | - | - | - | - | 1 | Loss | - |
HAND2 | p.V83Cfs*16 | Frame_Shift_Del | DEL | 0.082 | 2 | - | - |
HARBI1 | p.Y48N | Missense | SNP | 0.420 | 2 | - | - |
HAS2 | - | - | - | - | 3 | Gain | - |
HAUS6 | - | - | - | - | 1 | Loss | - |
HCFC2 | p.P587L | Missense | SNP | 0.582 | 2 | - | - |
HCN1 | - | - | - | - | 4 | Gain | - |
HCN4 | p.A133T | Missense | SNP | 0.613 | 2 | - | - |
HDAC11 | - | - | - | - | 1 | Loss | - |
HDAC2 | p.V12Sfs*20 | Frame_Shift_Del | DEL | 0.595 | 2 | - | - |
HDAC4 | p.M902Wfs*55 | Frame_Shift_Del | DEL | 0.173 | 2 | - | - |
HDAC9 | p.G197E | Missense | SNP | 0.463 | 2 | - | - |
HDDC2 | p.Q131K | Missense | SNP | 0.444 | 2 | - | - |
HEATR1 | p.H705Y | Missense | SNP | 0.505 | 2 | - | - |
HEATR6 | p.S389F | Missense | SNP | 0.486 | 2 | - | - |
HECA | p.G335Dfs*27 | Frame_Shift_Del | DEL | 0.463 | 2 | - | - |
HEG1 | p.A89T | Missense | SNP | 0.636 | 2 | - | - |
HELB | p.D1083N | Missense | SNP | 0.585 | 2 | - | - |
HELQ | p.N271Mfs*3 | Frame_Shift_Del | DEL | 0.512 | 2 | - | - |
HELZ2 | p.V2395G | Missense | SNP | 0.452 | 2 | - | - |
HEMK1 | - | - | - | - | 1 | Loss | - |
HEPACAM | - | - | - | - | 1 | Loss | - |
HEPN1 | - | - | - | - | 1 | Loss | - |
HERC2 | p.E1430Sfs*16 p.V2786M | Frame_Shift_Del Missense | DEL SNP | 0.320 0.470 | 2 | - | - |
HESX1 | - | - | - | - | 1 | Loss | - |
HEY1 | - | - | - | - | 3 | Gain | - |
HGH1 | - | - | - | - | 3 | Gain | - |
HGSNAT | - | - | - | - | 1 | Loss | - |
HHATL | - | - | - | - | 1 | Loss | - |
HHLA1 | - | - | - | - | 3 | Gain | - |
HHLA2 | p.S105P | Missense | SNP | 0.552 | 2 | - | - |
HIC1 | p.G641R | Missense | SNP | 0.421 | 2 | - | - |
HIC2 | p.A421T | Missense | SNP | 0.410 | 2 | - | - |
HID1 | p.P442L | Missense | SNP | 0.486 | 2 | - | - |
HINFP | - | - | - | - | 1 | Loss | - |
HINT2 | - | - | - | - | 1 | Loss | - |
HIPK4 | p.G409D | Missense | SNP | 0.470 | 2 | - | - |
HIST1H2BB | p.E106Sfs*? | Frame_Shift_Del | DEL | 0.056 | 2 | - | - |
HIST1H2BO | - | - | - | - | 2 | - | HIST1H2BO--SNORA52 |
HIST1H3A | p.C111S | Missense | SNP | 0.481 | 2 | - | - |
HIVEP1 | p.X14_splice | Splice_Site | SNP | 0.506 | 2 | - | - |
HIVEP3 | p.T516I | Missense | SNP | 0.443 | 2 | - | - |
HMBOX1 | - | - | - | - | 1 | Loss | - |
HMBS | - | - | - | - | 1 | Loss | - |
HMCN1 | p.D1229Y | Missense | SNP | 0.451 | 2 | - | - |
HMGB1 | - | - | - | - | 3 | Gain | - |
HMGCS1 | p.P170L | Missense | SNP | 0.703 | 4 | Gain | - |
HMGN4 | p.G55E | Missense | SNP | 0.432 | 2 | - | - |
HMSD | - | - | - | - | 1 | Loss | - |
HNF4G | - | - | - | - | 3 | Gain | - |
HOMEZ | p.L376Yfs*14 | Frame_Shift_Del | DEL | 0.469 | 2 | - | - |
HOOK3 | - | - | - | - | 1 | Loss | - |
HOXA3 | p.S190L | Missense | SNP | 0.487 | 2 | - | - |
HR | - | - | - | - | 1 | Loss | - |
HRCT1 | - | - | - | - | 1 | Loss | - |
HRH1 | - | - | - | - | 1 | Loss | - |
HS6ST3 | - | - | - | - | 3 | Gain | - |
HSD11B2 | p.D323N | Missense | SNP | 0.478 | 2 | - | - |
HSF1 | - | - | - | - | 3 | Gain | - |
HSF2 | p.R71C | Missense | SNP | 0.573 | 2 | - | - |
HSF4 | p.P323Afs*29 | Frame_Shift_Ins | INS | 0.275 | 2 | - | - |
HSPA14 | - | - | - | - | 3 | Gain | - |
HSPA5 | p.E539K | Missense | SNP | 0.097 | 2 | - | - |
HSPA8 | - | - | - | - | 1 | Loss | - |
HSPB2 | - | - | - | - | 1 | Loss | - |
HSPB2-C11orf52 | - | - | - | - | 1 | Loss | - |
HSPG2 | - | - | - | - | 2 | - | RN7SL1--HSPG2 |
HSPH1 | - | - | - | - | 3 | Gain | - |
HTD2 | - | - | - | - | 1 | Loss | - |
HTR2A | - | - | - | - | 3 | Gain | - |
HTR3A | - | - | - | - | 1 | Loss | - |
HTR3B | - | - | - | - | 1 | Loss | - |
HTR7 | p.L305F | Missense | SNP | 0.481 | 2 | - | - |
HTRA4 | - | - | - | - | 1 | Loss | - |
HTT | p.S1055L | Missense | SNP | 0.525 | 2 | - | - |
HUWE1 | p.V4306A | Missense | SNP | 1.000 | ND | ND | - |
HYAL1 | - | - | - | - | 1 | Loss | - |
HYAL2 | - | - | - | - | 1 | Loss | - |
HYAL3 | - | - | - | - | 1 | Loss | - |
HYLS1 | - | - | - | - | 1 | Loss | - |
HYOU1 | - | - | - | - | 1 | Loss | - |
IBA57 | p.P68L | Missense | SNP | 0.474 | 2 | - | - |
IBTK | p.X792_splice;p.E792K | Splice_Site | MNP | 0.478 | 2 | - | - |
ICAM5 | p.S735F | Missense | SNP | 0.477 | 2 | - | - |
ICE1 | - | - | - | - | 4 | Gain | - |
IDI1 | - | - | - | - | 3 | Gain | - |
IDI2 | - | - | - | - | 3 | Gain | - |
IDO1 | - | - | - | - | 1 | Loss | - |
IDO2 | - | - | - | - | 1 | Loss | - |
IFNA1 | - | - | - | - | 1 | Loss | - |
IFNA10 | - | - | - | - | 1 | Loss | - |
IFNA13 | - | - | - | - | 1 | Loss | - |
IFNA14 | - | - | - | - | 1 | Loss | - |
IFNA16 | - | - | - | - | 1 | Loss | - |
IFNA17 | - | - | - | - | 1 | Loss | - |
IFNA2 | - | - | - | - | 1 | Loss | - |
IFNA21 | - | - | - | - | 1 | Loss | - |
IFNA4 | - | - | - | - | 1 | Loss | - |
IFNA5 | - | - | - | - | 1 | Loss | - |
IFNA6 | - | - | - | - | 1 | Loss | - |
IFNA7 | - | - | - | - | 1 | Loss | - |
IFNA8 | - | - | - | - | 1 | Loss | - |
IFNB1 | - | - | - | - | 1 | Loss | - |
IFNE | - | - | - | - | 1 | Loss | - |
IFNK | - | - | - | - | 1 | Loss | - |
IFNW1 | - | - | - | - | 1 | Loss | - |
IFRD2 | - | - | - | - | 1 | Loss | - |
IFT122 | p.P918S | Missense | SNP | 0.417 | 2 | - | - |
IFT46 | - | - | - | - | 1 | Loss | - |
IFT74 | - | - | - | - | 1 | Loss | - |
IFT81 | p.E356Rfs*5 | Frame_Shift_Ins | INS | 0.277 | 2 | - | - |
IGF2R | p.P857L | Missense | SNP | 0.515 | 2 | - | - |
IGFBPL1 | - | - | - | - | 1 | Loss | - |
IGHV1-18 | p.Y114C | Missense | SNP | 0.295 | ND | ND | - |
IGKV1-16 | p.F105I | Missense | SNP | 0.596 | ND | ND | - |
IGLV3-10 | p.K49Nfs*43 | Frame_Shift_Del | DEL | 0.215 | ND | ND | - |
IGLV3-12 | p.P116L | Missense | SNP | 0.500 | ND | ND | - |
IGSF10 | p.C33W | Missense | SNP | 0.447 | 2 | - | - |
IGSF9B | - | - | - | - | 1 | Loss | - |
IKBKB | - | - | - | - | 1 | Loss | - |
IKZF1 | p.G141E | Missense | SNP | 0.460 | 2 | - | - |
IL10RA | - | - | - | - | 1 | Loss | - |
IL11RA | - | - | - | - | 1 | Loss | - |
IL12B | p.S281R | Missense | SNP | 0.400 | 2 | - | - |
IL15RA | - | - | - | - | 3 | Gain | - |
IL16 | p.P499S | Missense | SNP | 0.364 | 2 | - | - |
IL17RB | - | - | - | - | 1 | Loss | - |
IL17RC | - | - | - | - | 1 | Loss | - |
IL17RD | - | - | - | - | 1 | Loss | - |
IL17RE | - | - | - | - | 1 | Loss | - |
IL18 | - | - | - | - | 1 | Loss | - |
IL1RAP | p.V466A | Missense | SNP | 0.488 | 2 | - | - |
IL2RA | - | - | - | - | 3 | Gain | - |
IL31RA | p.S744L | Missense | SNP | 0.462 | 2 | - | - |
IL33 | - | - | - | - | 1 | Loss | - |
IL4I1 | p.G118Afs*40 | Frame_Shift_Del | DEL | 0.470 | 2 | - | - |
IL7 | - | - | - | - | 3 | Gain | - |
IL7R | - | - | - | - | 4 | Gain | - |
ILK | p.H172L | Missense | SNP | 0.462 | 2 | - | - |
IMPA1 | - | - | - | - | 3 | Gain | - |
IMPAD1 | - | - | - | - | 3 | Gain | - |
IMPDH2 | - | - | - | - | 1 | Loss | - |
IMPG2 | p.P237S | Missense | SNP | 0.535 | 2 | - | - |
INF2 | p.S154F | Missense | SNP | 0.482 | 2 | - | - |
ING1 | - | - | - | - | 3 | Gain | - |
INKA1 | - | - | - | - | 1 | Loss | - |
INO80D | p.P233S | Missense | SNP | 0.554 | 2 | - | - |
INPP4A | p.R885C | Missense | SNP | 0.492 | 2 | - | - |
INPP5D | p.P1033S | Missense | SNP | 0.515 | 2 | - | - |
INSL4 | - | - | - | - | 1 | Loss | - |
INSL5 | p.P78L | Missense | SNP | 0.517 | 2 | - | - |
INSL6 | - | - | - | - | 1 | Loss | - |
INTS10 | - | - | - | - | 1 | Loss | - |
INTS6 | - | - | - | - | 3 | Gain | - |
INTS8 | - | - | - | - | 3 | Gain | - |
INTS9 | - | - | - | - | 1 | Loss | - |
INVS | p.I447V | Missense | SNP | 1.000 | 2 | - | - |
IP6K1 | - | - | - | - | 1 | Loss | - |
IP6K2 | - | - | - | - | 1 | Loss | - |
IPO5 | - | - | - | - | 3 | Gain | - |
IPO9 | p.S634F | Missense | SNP | 0.458 | 2 | - | - |
IPP | p.A517V | Missense | SNP | 0.516 | 2 | - | - |
IPPK | p.G289D | Missense | SNP | 0.496 | 2 | - | - |
IQANK1 | - | - | - | - | 3 | Gain | - |
IQCF1 | - | - | - | - | 1 | Loss | - |
IQCF2 | - | - | - | - | 1 | Loss | - |
IQCF3 | - | - | - | - | 1 | Loss | - |
IQCF5 | - | - | - | - | 1 | Loss | - |
IQCF6 | - | - | - | - | 1 | Loss | - |
IQGAP3 | p.Q1205Sfs*31 | Frame_Shift_Del | DEL | 0.338 | 2 | - | - |
IQSEC1 | - | - | - | - | 1 | Loss | - |
IQSEC2 | p.G283Afs*23 | Frame_Shift_Del | DEL | 0.188 | ND | ND | - |
IQSEC3 | p.P666L | Missense | SNP | 0.414 | 2 | - | - |
IRAK2 | - | - | - | - | 1 | Loss | - |
IRF2BPL | p.A288V | Missense | SNP | 0.495 | 2 | - | - |
IRF4 | p.R98W | Missense | SNP | 0.429 | 2 | - | - |
IRS2 | - | - | - | - | 3 | Gain | - |
IRX1 | - | - | - | - | 4 | Gain | - |
IRX2 | - | - | - | - | 4 | Gain | - |
IRX4 | p.S108L | Missense | SNP | 0.279 | 4 | Gain | - |
IRX6 | p.G323E | Missense | SNP | 0.552 | 2 | - | - |
ISG20L2 | p.L306F | Missense | SNP | 0.420 | 2 | - | - |
ITFG2 | p.G181C | Missense | SNP | 0.554 | 2 | - | - |
ITGA8 | - | - | - | - | 3 | Gain | - |
ITGA9 | - | - | - | - | 1 | Loss | - |
ITGAE | p.R876Qfs*19 p.T435A | Frame_Shift_Ins Missense | INS SNP | 0.227 0.495 | 2 | - | - |
ITGAV | p.S190G | Missense | SNP | 0.553 | 2 | - | - |
ITGB3BP | p.L106W | Missense | SNP | 0.455 | 2 | - | - |
ITGB4 | p.A315T | Missense | SNP | 0.452 | 2 | - | - |
ITGBL1 | p.G213R | Missense | SNP | 0.634 | 3 | Gain | - |
ITIH1 | - | - | - | - | 1 | Loss | - |
ITIH2 | - | - | - | - | 3 | Gain | - |
ITIH3 | - | - | - | - | 1 | Loss | - |
ITIH4 | - | - | - | - | 1 | Loss | - |
ITIH5 | - | - | - | - | 3 | Gain | - |
ITK | p.G354E | Missense | SNP | 0.704 | 2 | - | - |
ITM2B | - | - | - | - | 3 | Gain | - |
ITPR1 | p.F662L | Missense | SNP | 0.420 | 2 | - | - |
ITPRIPL2 | p.L451H | Missense | SNP | 0.323 | 2 | - | - |
IWS1 | p.R547C | Missense | SNP | 0.482 | 2 | - | - |
IZUMO3 | - | - | - | - | 1 | Loss | - |
JAGN1 | - | - | - | - | 1 | Loss | - |
JAK2 | - | - | - | - | 1 | Loss | - |
JAK3 | p.S897N | Missense | SNP | 0.479 | 2 | - | - |
JAKMIP1 | p.Q666* | Nonsense | SNP | 0.491 | 2 | - | - |
JAM3 | - | - | - | - | 1 | Loss | - |
JAML | - | - | - | - | 1 | Loss | - |
JARID2 | p.P736Q | Missense | SNP | 0.084 | 2 | - | - |
JHY | - | - | - | - | 1 | Loss | - |
JOSD2 | p.*189Wext*? | Nonstop | SNP | 0.392 | 2 | - | - |
JPH1 | - | - | - | - | 3 | Gain | - |
JRK | - | - | - | - | 3 | Gain | - |
KANK1 | - | - | - | - | 1 | Loss | - |
KANSL1 | p.G204Vfs*2 | Frame_Shift_Del | DEL | 0.235 | 2 | - | - |
KAT2B | - | - | - | - | 1 | Loss | - |
KAT5 | p.R244H | Missense | SNP | 0.523 | 2 | - | - |
KAT6A | - | - | - | - | 1 | Loss | - |
KAT6B | p.P1759S | Missense | SNP | 0.531 | 2 | - | - |
KATNAL1 | - | - | - | - | 3 | Gain | - |
KAZN | p.L91F | Missense | SNP | 0.565 | 2 | - | - |
KBTBD11 | - | - | - | - | 1 | Loss | - |
KBTBD11-OT1 | - | - | - | - | 1 | Loss | - |
KBTBD3 | - | - | - | - | 1 | Loss | - |
KBTBD6 | - | - | - | - | 3 | Gain | - |
KBTBD7 | - | - | - | - | 3 | Gain | - |
KBTBD8 | - | - | - | - | 1 | Loss | - |
KCNA4 | p.R240C p.C151R | Missense Missense | SNP SNP | 0.451 0.159 | 2 | - | - |
KCNB2 | - | - | - | - | 3 | Gain | - |
KCNC1 | p.S444F | Missense | SNP | 0.510 | 2 | - | - |
KCNE1B | - | - | - | - | 1 | Loss | - |
KCNG2 | p.Q239H | Missense | SNP | 0.317 | 2 | - | - |
KCNH6 | p.P867S | Missense | SNP | 0.488 | 2 | - | - |
KCNH8 | - | - | - | - | 1 | Loss | - |
KCNJ1 | - | - | - | - | 1 | Loss | - |
KCNJ5 | p.T100A | Missense | SNP | 1.000 | 1 | Loss | - |
KCNK18 | p.M348I | Missense | SNP | 0.491 | 2 | - | - |
KCNK5 | p.A221V | Missense | SNP | 0.574 | 2 | - | - |
KCNK9 | - | - | - | - | 3 | Gain | - |
KCNQ3 | p.G724Dfs*28 | Frame_Shift_Del | DEL | 0.618 | 3 | Gain | - |
KCNRG | - | - | - | - | 3 | Gain | - |
KCNS2 | - | - | - | - | 3 | Gain | - |
KCNT1 | p.D1168G | Missense | SNP | 0.479 | 2 | - | - |
KCNT2 | p.S385R | Missense | SNP | 0.461 | 2 | - | - |
KCNU1 | - | - | - | - | 1 | Loss | - |
KCNV1 | - | - | - | - | 3 | Gain | - |
KCNV2 | - | - | - | - | 1 | Loss | - |
KCTD12 | - | - | - | - | 3 | Gain | - |
KCTD4 | - | - | - | - | 3 | Gain | - |
KCTD6 | - | - | - | - | 1 | Loss | - |
KCTD9 | - | - | - | - | 1 | Loss | - |
KDELC1 | - | - | - | - | 3 | Gain | - |
KDELC2 | - | - | - | - | 1 | Loss | - |
KDELR2 | p.T92A | Missense | SNP | 0.260 | 2 | - | - |
KDF1 | p.S137Afs*111 | Frame_Shift_Del | DEL | 0.387 | 2 | - | - |
KDM1A | p.K297Dfs*51 | Frame_Shift_Del | DEL | 0.531 | 2 | - | - |
KDM4B | p.R329H | Missense | SNP | 0.506 | 2 | - | - |
KDM4C | - | - | - | - | 1 | Loss | - |
KDM4D | p.K93Rfs*4 | Frame_Shift_Del | DEL | 0.134 | 2 | - | - |
KDM4E | p.F258L | Missense | SNP | 0.492 | 2 | - | - |
KDSR | - | - | - | - | 1 | Loss | - |
KHDRBS1 | p.A82S | Missense | SNP | 0.444 | 2 | - | - |
KHDRBS2 | p.S87F | Missense | SNP | 0.470 | 2 | - | - |
KHDRBS3 | p.S292G | Missense | SNP | 0.316 | 3 | Gain | - |
KIAA0513 | p.F312Lfs*32 | Frame_Shift_Del | DEL | 0.470 | 2 | - | - |
KIAA0922 | p.T1376I | Missense | SNP | 0.461 | ND | ND | - |
KIAA1107 | p.R692K | Missense | SNP | 0.495 | ND | ND | - |
KIAA1143 | - | - | - | - | 1 | Loss | - |
KIAA1211 | p.V119A | Missense | SNP | 0.476 | 2 | - | - |
KIAA1211L | p.S3F | Missense | SNP | 0.487 | 2 | - | - |
KIAA1549 | p.R1106Q p.W420* | Missense Nonsense | SNP MNP | 0.554 0.481 | 2 | - | - |
KIAA1551 | p.I93M p.P1659L | Missense Missense | SNP SNP | 0.503 0.398 | 2 | - | - |
KIAA1671 | p.P385S p.D1404N | Missense Missense | SNP SNP | 0.470 0.442 | 2 | - | - |
KIAA1755 | p.P4L | Missense | SNP | 0.511 | 2 | - | - |
KIAA2026 | - | - | - | - | 1 | Loss | - |
KIF11 | p.R1051* | Nonsense | SNP | 0.567 | 2 | - | - |
KIF13B | - | - | - | - | 1 | Loss | - |
KIF15 | - | - | - | - | 1 | Loss | - |
KIF16B | p.N274Kfs*3 | Frame_Shift_Ins | INS | 0.313 | 2 | - | - |
KIF17 | p.E592Gfs*67 | Frame_Shift_Ins | INS | 0.288 | 2 | - | - |
KIF21B | p.T1295M | Missense | SNP | 0.519 | 2 | - | - |
KIF24 | - | - | - | - | 1 | Loss | - |
KIF25 | p.Q352* | Nonsense | SNP | 0.419 | 2 | - | - |
KIF26A | p.V265Rfs*5 | Frame_Shift_Ins | INS | 0.058 | 2 | - | - |
KIF2A | p.E237Rfs*8 | Frame_Shift_Ins | INS | 0.299 | 2 | - | - |
KIF4B | p.R256C | Missense | SNP | 0.451 | 2 | - | - |
KIF5A | p.T317A p.R408C | Missense Missense | SNP SNP | 0.464 0.119 | 2 | - | - |
KIF5C | p.S282N | Missense | SNP | 0.503 | 2 | - | - |
KIF9 | - | - | - | - | 1 | Loss | - |
KIFC2 | - | - | - | - | 3 | Gain | - |
KIN | - | - | - | - | 3 | Gain | - |
KIRREL | p.P393L | Missense | SNP | 0.424 | ND | ND | - |
KIRREL2 | p.G355S | Missense | SNP | 0.513 | 2 | - | - |
KIRREL3 | - | - | - | - | 1 | Loss | - |
KL | - | - | - | - | 3 | Gain | - |
KLF10 | - | - | - | - | 3 | Gain | - |
KLF11 | p.G346R p.T364I | Missense Missense | SNP SNP | 0.402 0.382 | 2 | - | - |
KLF12 | - | - | - | - | 3 | Gain | - |
KLF5 | - | - | - | - | 3 | Gain | - |
KLF6 | - | - | - | - | 3 | Gain | - |
KLHDC8B | - | - | - | - | 1 | Loss | - |
KLHL1 | p.W727* | Nonsense | SNP | 0.689 | 3 | Gain | - |
KLHL10 | p.D552N | Missense | SNP | 0.461 | 2 | - | - |
KLHL18 | - | - | - | - | 1 | Loss | - |
KLHL38 | - | - | - | - | 3 | Gain | - |
KLHL4 | p.Q27* | Nonsense | SNP | 1.000 | ND | ND | - |
KLHL40 | - | - | - | - | 1 | Loss | - |
KLHL9 | - | - | - | - | 1 | Loss | - |
KLK1 | p.Y43H | Missense | SNP | 0.350 | 2 | - | - |
KLK3 | p.W29* | Nonsense | SNP | 0.333 | 2 | - | - |
KLKB1 | p.P440S | Missense | SNP | 0.514 | 2 | - | - |
KLRG2 | p.C396Y | Missense | SNP | 0.520 | 2 | - | - |
KMT2A | - | - | - | - | 1 | Loss | - |
KMT2B | p.P1821Hfs*74 p.L1071M | Frame_Shift_Del Missense | DEL SNP | 0.465 0.554 | 2 | - | - |
KMT2E | p.V1184E | Missense | SNP | 0.461 | 2 | - | - |
KMT5C | p.R339Pfs*122 | Frame_Shift_Ins | INS | 0.286 | 2 | - | - |
KNSTRN | p.F34L | Missense | SNP | 0.394 | 2 | - | - |
KPNA3 | - | - | - | - | 3 | Gain | - |
KPNA5 | p.R30Q | Missense | SNP | 0.471 | 2 | - | - |
KPTN | p.K92Sfs*22 | Frame_Shift_Del | DEL | 0.108 | 2 | - | - |
KRAS | p.E63K | Missense | SNP | 0.562 | 2 | - | - |
KRBOX1 | - | - | - | - | 1 | Loss | - |
KRT26 | p.A151V | Missense | SNP | 0.445 | 2 | - | - |
KRT33B | p.T401I | Missense | SNP | 0.387 | 2 | - | - |
KRT6B | p.E473K | Missense | SNP | 0.583 | 2 | - | - |
KRTAP19-3 | p.G51E | Missense | SNP | 1.000 | 2 | - | - |
KRTAP25-1 | p.S5F | Missense | SNP | 0.992 | 2 | - | - |
KRTAP5-8 | p.S56Lfs*37 | Frame_Shift_Ins | INS | 0.359 | 2 | - | - |
KRTAP6-1 | p.R43H | Missense | SNP | 0.554 | 2 | - | - |
L1CAM | p.R554C | Missense | SNP | 1.000 | ND | ND | - |
L3MBTL1 | p.D552K | Missense | MNP | 0.456 | 2 | - | - |
LACC1 | - | - | - | - | 3 | Gain | - |
LACTB2 | - | - | - | - | 3 | Gain | - |
LAMA1 | p.H1350Y | Missense | SNP | 0.461 | 2 | - | - |
LAMA5 | p.W3447* p.X3169_splice p.R2193C | Nonsense Splice_Site Missense | SNP SNP SNP | 0.442 0.596 0.435 | 2 | - | - |
LAMB2 | - | - | - | - | 1 | Loss | - |
LAMC2 | - | - | - | - | 2 | - | AC091167.1--LAMC2 |
LAMP1 | - | - | - | - | 3 | Gain | - |
LAPTM4B | - | - | - | - | 3 | Gain | - |
LARP4B | - | - | - | - | 3 | Gain | - |
LARS2 | - | - | - | - | 1 | Loss | - |
LATS1 | p.L695F | Missense | SNP | 0.524 | 2 | - | - |
LATS2 | - | - | - | - | 3 | Gain | - |
LAYN | - | - | - | - | 1 | Loss | - |
LCA5 | p.W436L | Missense | SNP | 0.500 | 2 | - | - |
LCOR | p.A303V | Missense | SNP | 0.467 | 2 | - | - |
LCP1 | - | - | - | - | 3 | Gain | - |
LCT | p.G531R | Missense | SNP | 0.477 | 2 | - | - |
LDB3 | p.A222V | Missense | SNP | 0.359 | 2 | - | - |
LDHAL6B | p.N162Y | Missense | SNP | 0.435 | 2 | - | - |
LEPR | p.W319* p.G1131E | Nonsense Missense | SNP SNP | 0.490 0.532 | 2 | - | - |
LEPROTL1 | - | - | - | - | 1 | Loss | - |
LETM2 | - | - | - | - | 1 | Loss | - |
LGI3 | - | - | - | - | 1 | Loss | - |
LGR6 | p.P466L | Missense | MNP | 0.433 | 2 | - | - |
LHFPL4 | - | - | - | - | 1 | Loss | - |
LHFPL5 | p.D85N | Missense | SNP | 0.491 | 2 | - | - |
LHFPL6 | - | - | - | - | 3 | Gain | - |
LHX6 | p.L209F | Missense | SNP | 0.993 | 2 | - | - |
LIFR | - | - | - | - | 4 | Gain | - |
LIG3 | p.N125Kfs*11 | Frame_Shift_Ins | INS | 0.301 | 2 | - | - |
LIG4 | - | - | - | - | 3 | Gain | - |
LILRB1 | p.X24_splice p.V463L | Splice_Site Missense | SNP SNP | 0.372 0.578 | 2 | - | - |
LIMD1 | - | - | - | - | 1 | Loss | - |
LINGO2 | - | - | - | - | 1 | Loss | - |
LIPI | - | - | - | - | 1 | Loss | - |
LMAN1 | - | - | - | - | 1 | Loss | - |
LMBRD2 | p.R219Gfs*6 | Frame_Shift_Del | DEL | 0.057 | 4 | Gain | - |
LMCD1 | - | - | - | - | 1 | Loss | - |
LMO7 | - | - | - | - | 3 | Gain | - |
LMOD3 | - | - | - | - | 1 | Loss | - |
LNX2 | p.H623Y | Missense | SNP | 0.629 | 3 | Gain | - |
LONRF1 | - | - | - | - | 1 | Loss | - |
LOXHD1 | p.G358R | Missense | SNP | 0.455 | 2 | - | - |
LOXL2 | - | - | - | - | 1 | Loss | - |
LPAR6 | - | - | - | - | 3 | Gain | - |
LPCAT1 | - | - | - | - | 4 | Gain | - |
LPIN1 | p.R171G | Missense | SNP | 0.591 | 2 | - | - |
LPIN2 | p.P327L | Missense | SNP | 0.419 | 2 | - | - |
LPL | - | - | - | - | 1 | Loss | - |
LPO | p.S291F | Missense | SNP | 0.450 | 2 | - | - |
LRBA | p.E1593K | Missense | SNP | 0.444 | 2 | - | - |
LRCH1 | - | - | - | - | 3 | Gain | - |
LRFN2 | p.T686M | Missense | SNP | 0.144 | 2 | - | - |
LRFN3 | p.L39P | Missense | SNP | 0.531 | 2 | - | - |
LRIG1 | - | - | - | - | 1 | Loss | - |
LRIT3 | p.P121L | Missense | SNP | 0.637 | 3 | Gain | - |
LRP1 | p.D4193Rfs*9 | Frame_Shift_Ins | INS | 0.299 | 2 | - | - |
LRP12 | - | - | - | - | 3 | Gain | - |
LRP1B | p.K2543Nfs*42 p.D2709N | Frame_Shift_Del Missense | DEL SNP | 0.490 0.486 | 2 | - | - |
LRP2 | p.G243R | Missense | SNP | 0.504 | 2 | - | - |
LRP8 | p.A454T | Missense | SNP | 0.486 | 2 | - | - |
LRRC14 | - | - | - | - | 3 | Gain | - |
LRRC14B | - | - | - | - | 3 | Gain | - |
LRRC15 | p.R302W p.S132N | Missense Missense | SNP SNP | 0.456 0.484 | 2 | - | - |
LRRC19 | - | - | - | - | 1 | Loss | - |
LRRC2 | - | - | - | - | 1 | Loss | - |
LRRC24 | - | - | - | - | 3 | Gain | - |
LRRC32 | p.L559M | Missense | SNP | 0.577 | 2 | - | - |
LRRC37B | p.T465I | Missense | SNP | 0.636 | 2 | - | - |
LRRC3B | - | - | - | - | 1 | Loss | - |
LRRC3C | p.S254F | Missense | SNP | 0.487 | 2 | - | - |
LRRC43 | p.T270I p.G517R | Missense Missense | SNP SNP | 0.538 0.493 | 2 | - | - |
LRRC6 | - | - | - | - | 3 | Gain | - |
LRRC63 | - | - | - | - | 3 | Gain | - |
LRRC69 | - | - | - | - | 3 | Gain | - |
LRRC72 | p.G201E | Missense | SNP | 0.507 | 2 | - | - |
LRRCC1 | - | - | - | - | 3 | Gain | - |
LRRD1 | p.P250S | Missense | SNP | 0.505 | 2 | - | - |
LRRFIP2 | - | - | - | - | 1 | Loss | - |
LRRIQ1 | p.N484Mfs*4 p.E1539Kfs*20 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.237 0.463 | 2 | - | - |
LRRIQ3 | p.H13N | Missense | SNP | 0.415 | 2 | - | - |
LRRIQ4 | p.P158L | Missense | SNP | 0.444 | 2 | - | - |
LRRK2 | p.H1584Y | Missense | SNP | 0.511 | 2 | - | - |
LRRN3 | p.E417K | Missense | SNP | 0.510 | 2 | - | - |
LRRTM1 | p.Q486K | Missense | SNP | 0.541 | 2 | - | - |
LRRTM3 | p.E413K | Missense | SNP | 0.535 | 2 | - | - |
LRRTM4 | p.P173S | Missense | SNP | 0.489 | 2 | - | - |
LRTM1 | - | - | - | - | 1 | Loss | - |
LSM1 | - | - | - | - | 1 | Loss | - |
LSM3 | - | - | - | - | 1 | Loss | - |
LSMEM2 | - | - | - | - | 1 | Loss | - |
LSR | p.X366_splice | Splice_Site | SNP | 0.472 | 2 | - | - |
LTBP4 | p.E515D | Missense | SNP | 0.323 | 2 | - | - |
LTF | - | - | - | - | 1 | Loss | - |
LTV1 | p.P390L | Missense | SNP | 0.472 | 2 | - | - |
LURAP1L | - | - | - | - | 1 | Loss | - |
LY6D | - | - | - | - | 3 | Gain | - |
LY6E | - | - | - | - | 3 | Gain | - |
LY6H | - | - | - | - | 3 | Gain | - |
LY6K | - | - | - | - | 3 | Gain | - |
LY6L | - | - | - | - | 3 | Gain | - |
LY96 | - | - | - | - | 3 | Gain | - |
LYG1 | p.X15_splice | Splice_Site | DEL | 0.468 | 2 | - | - |
LYN | - | - | - | - | 3 | Gain | - |
LYNX1 | - | - | - | - | 3 | Gain | - |
LYNX1-SLURP2 | - | - | - | - | 3 | Gain | - |
LYPD2 | - | - | - | - | 3 | Gain | - |
LYPLA1 | - | - | - | - | 3 | Gain | - |
LYPLAL1 | p.L9P | Missense | SNP | 0.287 | 2 | - | - |
LYRM9 | p.P53S | Missense | SNP | 0.484 | 2 | - | - |
LYST | p.R2225H p.P319L | Missense Missense | SNP SNP | 0.504 0.504 | 2 | - | - |
LYZL4 | - | - | - | - | 1 | Loss | - |
LZTFL1 | - | - | - | - | 1 | Loss | - |
LZTS1 | - | - | - | - | 1 | Loss | - |
LZTS2 | p.P238S | Missense | SNP | 0.577 | 2 | - | - |
MAB21L1 | - | - | - | - | 3 | Gain | - |
MAF1 | - | - | - | - | 3 | Gain | - |
MAFA | - | - | - | - | 3 | Gain | - |
MAGEA3 | p.Y269H | Missense | SNP | 1.000 | ND | ND | - |
MAGEB2 | p.K170E | Missense | SNP | 0.990 | ND | ND | - |
MAGEB4 | p.G212D | Missense | SNP | 1.000 | ND | ND | - |
MAGEB6P1 | p.S120L | Missense | SNP | 0.976 | ND | ND | - |
MAGEL2 | p.P1108L p.P13S | Missense Missense | SNP SNP | 0.509 0.516 | 2 | - | - |
MAGI1 | - | - | - | - | 1 | Loss | - |
MAK16 | - | - | - | - | 1 | Loss | - |
MAL2 | - | - | - | - | 3 | Gain | - |
MALRD1 | - | - | - | - | 3 | Gain | - |
MAMDC2 | p.D318V | Missense | SNP | 0.428 | 2 | - | - |
MAML1 | p.E248K | Missense | SNP | 0.452 | 2 | - | - |
MANF | - | - | - | - | 1 | Loss | - |
MAP2 | p.L1743F | Missense | SNP | 0.389 | 2 | - | - |
MAP2K7 | p.D405E | Missense | SNP | 0.533 | 2 | - | - |
MAP3K13 | p.G752E p.C842Y | Missense Missense | SNP SNP | 0.474 0.332 | 2 | - | - |
MAP3K14 | p.P722S | Missense | SNP | 0.500 | 2 | - | - |
MAP4 | - | - | - | - | 1 | Loss | - |
MAP4K2 | p.T401A | Missense | SNP | 0.485 | 2 | - | - |
MAP7D1 | p.G398Afs*34 | Frame_Shift_Del | DEL | 0.409 | 2 | - | - |
MAPK15 | - | - | - | - | 3 | Gain | - |
MAPK8 | p.H141Y | Missense | SNP | 0.424 | 2 | - | - |
MAPK8IP3 | p.K569del | In_Frame_Del | DEL | 0.084 | 2 | - | - |
MAPKAPK3 | - | - | - | - | 1 | Loss | - |
MAPRE3 | p.C182Lfs*16 | Frame_Shift_Ins | INS | 0.306 | 2 | - | - |
MARCH1 | p.A9V | Missense | SNP | 0.423 | 2 | - | - |
MARCH11 | - | - | - | - | 4 | Gain | - |
MARCH6 | - | - | - | - | 4 | Gain | - |
MAST4 | p.P1642L | Missense | SNP | 0.455 | 2 | - | - |
MATN2 | p.E930K | Missense | SNP | 0.408 | 3 | Gain | - |
MBD2 | p.G158Dfs*7 | Frame_Shift_Del | DEL | 0.054 | 2 | - | - |
MBL2 | p.C155Y | Missense | SNP | 0.552 | 2 | - | - |
MBNL2 | - | - | - | - | 3 | Gain | - |
MBOAT4 | - | - | - | - | 1 | Loss | - |
MC4R | - | - | - | - | 1 | Loss | - |
MC5R | p.Y180H | Missense | SNP | 0.482 | 2 | - | - |
MCAM | - | - | - | - | 1 | Loss | - |
MCF2L | p.V133I | Missense | SNP | 0.697 | 3 | Gain | - |
MCM10 | - | - | - | - | 3 | Gain | - |
MCM3 | p.I3V | Missense | SNP | 0.581 | 2 | - | - |
MCM4 | - | - | - | - | 3 | Gain | - |
MCMDC2 | - | - | - | - | 3 | Gain | - |
MCPH1 | - | - | - | - | 1 | Loss | - |
MDGA2 | p.E529K | Missense | SNP | 0.468 | 2 | - | - |
MDN1 | p.K1989Rfs*65 p.D4806N | Frame_Shift_Del Missense | DEL SNP | 0.400 0.388 | 2 | - | - |
ME1 | p.R8H | Missense | SNP | 0.565 | 2 | - | - |
MED10 | - | - | - | - | 4 | Gain | - |
MED15 | p.Q453Sfs*41 | Frame_Shift_Del | DEL | 0.236 | 2 | - | - |
MED16 | p.D623N | Missense | SNP | 1.000 | 2 | - | - |
MED23 | p.R1167* | Nonsense | SNP | 0.459 | 2 | - | - |
MED30 | - | - | - | - | 3 | Gain | - |
MED4 | - | - | - | - | 3 | Gain | - |
MEDAG | p.G69Afs*29 | Frame_Shift_Del | DEL | 0.622 | 3 | Gain | - |
MEF2C | p.E71K | Missense | SNP | 0.487 | 2 | - | - |
MEGF10 | p.R71Q | Missense | SNP | 0.463 | 2 | - | - |
MEIG1 | - | - | - | - | 3 | Gain | - |
MEIS3 | p.P191S p.S4F | Missense Missense | SNP SNP | 0.464 0.485 | 2 | - | - |
MELK | - | - | - | - | 1 | Loss | - |
MEN1 | p.R521Gfs*43 | Frame_Shift_Del | DEL | 0.417 | 2 | - | - |
METRN | p.G255C | Missense | SNP | 0.264 | 2 | - | - |
METTL21C | - | - | - | - | 3 | Gain | - |
METTL25 | p.X459_splice | Splice_Site | SNP | 0.486 | 2 | - | - |
METTL4 | p.S56del | In_Frame_Del | DEL | 0.439 | 2 | - | - |
METTL6 | - | - | - | - | 1 | Loss | - |
MEX3D | p.A374V | Missense | SNP | 0.430 | 2 | - | - |
MFHAS1 | - | - | - | - | 1 | Loss | - |
MFRP | - | - | - | - | 1 | Loss | - |
MFSD3 | - | - | - | - | 3 | Gain | - |
MFSD4B | p.C202Vfs*4 p.A187V | Frame_Shift_Del Missense | DEL SNP | 0.485 0.086 | 2 | - | - |
MFSD6 | p.P25L | Missense | SNP | 0.477 | 2 | - | - |
MGAM | p.R98Q | Missense | SNP | 0.487 | 2 | - | - |
MGAM2 | p.P1815S | Missense | SNP | 0.515 | 2 | - | - |
MIB2 | p.A10Pfs*48 | Frame_Shift_Del | DEL | 0.581 | 2 | - | - |
MICAL1 | p.T272A | Missense | SNP | 0.498 | 2 | - | - |
MICALL1 | p.E810K | Missense | SNP | 0.377 | 2 | - | - |
MICU2 | - | - | - | - | 3 | Gain | - |
MICU3 | - | - | - | - | 1 | Loss | - |
MIEF1 | p.P150S | Missense | SNP | 0.493 | 2 | - | - |
MINDY3 | - | - | - | - | 3 | Gain | - |
MINK1 | p.P246S p.P250L | Missense Missense | SNP SNP | 0.395 0.605 | 2 | - | - |
MIPEP | - | - | - | - | 3 | Gain | - |
MITF | - | - | - | - | 1 | Loss | - |
MKI67 | p.M746I | Missense | SNP | 0.510 | 2 | - | - |
MKLN1 | p.Q309* | Nonsense | SNP | 0.426 | 2 | - | - |
MKRN2 | - | - | - | - | 1 | Loss | - |
MKRN2OS | - | - | - | - | 1 | Loss | - |
MLANA | - | - | - | - | 1 | Loss | - |
MLC1 | p.R22W | Missense | SNP | 0.841 | 2 | - | - |
MLH1 | p.X702_splice | Splice_Site | SNP | 1.000 | 1 | Loss | - |
MLH3 | p.E586Nfs*24 | Frame_Shift_Del | DEL | 0.436 | 2 | - | - |
MLLT3 | - | - | - | - | 1 | Loss | - |
MLNR | - | - | - | - | 3 | Gain | - |
MLXIP | p.P577S | Missense | SNP | 0.481 | 2 | - | - |
MMEL1 | p.A568Gfs*53 | Frame_Shift_Ins | INS | 0.290 | 2 | - | - |
MMP16 | - | - | - | - | 3 | Gain | - |
MMP20 | p.R273Q | Missense | SNP | 0.475 | 2 | - | - |
MMRN2 | p.A693T | Missense | SNP | 0.676 | 2 | - | - |
MOB3B | - | - | - | - | 1 | Loss | - |
MOBP | - | - | - | - | 1 | Loss | - |
MON1A | - | - | - | - | 1 | Loss | - |
MON2 | p.F980Sfs*11 p.E1544Vfs*10 p.H652R | Frame_Shift_Del Frame_Shift_Del Missense | DEL DEL SNP | 0.343 0.438 0.117 | 2 | - | - |
MOS | - | - | - | - | 3 | Gain | - |
MPDZ | - | - | - | - | 1 | Loss | - |
MPHOSPH9 | p.S157Lfs*2 | Frame_Shift_Del | DEL | 0.413 | 2 | - | - |
MPP7 | p.E134K | Missense | SNP | 0.600 | 2 | - | - |
MPRIP | p.X426_splice | Splice_Site | SNP | 0.407 | 2 | - | - |
MPZL2 | - | - | - | - | 1 | Loss | - |
MPZL3 | - | - | - | - | 1 | Loss | - |
MRC1 | p.W728R | Missense | SNP | 0.337 | 3 | Gain | - |
MRI1 | p.H330Tfs*24 | Frame_Shift_Del | DEL | 0.492 | 2 | - | - |
MRM2 | p.S223N | Missense | SNP | 0.088 | 2 | - | - |
MROH1 | - | - | - | - | 3 | Gain | - |
MROH2B | p.I1372Sfs*5 | Frame_Shift_Del | DEL | 0.157 | 4 | Gain | - |
MROH5 | - | - | - | - | 3 | Gain | - |
MROH6 | - | - | - | - | 3 | Gain | - |
MROH9 | p.L605V | Missense | SNP | 0.452 | 2 | - | - |
MRPL13 | - | - | - | - | 3 | Gain | - |
MRPL15 | - | - | - | - | 3 | Gain | - |
MRPL36 | - | - | - | - | 4 | Gain | - |
MRPL57 | - | - | - | - | 3 | Gain | - |
MRPS25 | - | - | - | - | 1 | Loss | - |
MRPS28 | - | - | - | - | 3 | Gain | - |
MRPS30 | p.L150P | Missense | SNP | 0.306 | 4 | Gain | - |
MRPS31 | p.H17Y | Missense | SNP | 0.697 | 3 | Gain | - |
MRVI1 | p.F788I | Missense | SNP | 0.552 | 2 | - | - |
MSANTD2 | - | - | - | - | 1 | Loss | - |
MSANTD4 | - | - | - | - | 1 | Loss | - |
MSC | - | - | - | - | 3 | Gain | - |
MSH5 | p.E424K | Missense | SNP | 0.418 | 2 | - | - |
MSI1 | p.X34_splice | Splice_Site | SNP | 0.483 | 2 | - | - |
MSMP | - | - | - | - | 1 | Loss | - |
MSN | p.E178K | Missense | SNP | 1.000 | ND | ND | - |
MSR1 | - | - | - | - | 1 | Loss | - |
MSRA | - | - | - | - | 1 | Loss | - |
MST1 | - | - | - | - | 1 | Loss | - |
MST1R | - | - | - | - | 1 | Loss | - |
MSX1 | p.K139R | Missense | SNP | 0.467 | 2 | - | - |
MTAP | - | - | - | - | 1 | Loss | - |
MTBP | - | - | - | - | 3 | Gain | - |
MTDH | - | - | - | - | 3 | Gain | - |
MTERF3 | - | - | - | - | 3 | Gain | - |
MTFR1 | - | - | - | - | 3 | Gain | - |
MTHFD1 | p.D142N | Missense | SNP | 0.543 | 2 | - | - |
MTHFD1L | p.G650K | Missense | MNP | 0.484 | 2 | - | - |
MTHFR | p.X344_splice | Splice_Site | SNP | 0.444 | 2 | - | - |
MTIF3 | - | - | - | - | 3 | Gain | - |
MTMR12 | - | - | - | - | 4 | Gain | - |
MTMR14 | - | - | - | - | 1 | Loss | - |
MTMR4 | p.L534F | Missense | SNP | 0.367 | 2 | - | - |
MTMR6 | p.V236A | Missense | SNP | 0.241 | 3 | Gain | - |
MTMR7 | - | - | - | - | 1 | Loss | - |
MTMR9 | - | - | - | - | 1 | Loss | - |
MTRF1 | - | - | - | - | 3 | Gain | - |
MTRR | - | - | - | - | 4 | Gain | - |
MTSS1 | - | - | - | - | 3 | Gain | - |
MTUS1 | - | - | - | - | 1 | Loss | - |
MTUS2 | - | - | - | - | 3 | Gain | - |
MTX3 | p.I35Lfs*26 | Frame_Shift_Del | DEL | 0.491 | 2 | - | - |
MUC16 | p.T11847Qfs*15 p.S7713Lfs*5 p.R10425K p.T10109A p.S5258F | Frame_Shift_Del Frame_Shift_Del Missense Missense Missense | DEL DEL SNP SNP SNP | 0.508 0.414 0.448 0.460 0.433 | 2 | - | - |
MUC22 | p.G961C | Missense | SNP | 0.500 | 2 | - | - |
MUC5AC | p.S2245F p.S4208N | Missense Missense | SNP SNP | 0.551 0.505 | 2 | - | - |
MUSTN1 | - | - | - | - | 1 | Loss | - |
MYBL1 | - | - | - | - | 3 | Gain | - |
MYC | - | - | - | - | 3 | Gain | - |
MYCBP2 | p.L2080F | Missense | SNP | 0.753 | 3 | Gain | - |
MYD88 | - | - | - | - | 1 | Loss | - |
MYH11 | p.T1786M p.P573L | Missense Missense | SNP SNP | 0.543 0.391 | 2 | - | - |
MYH14 | p.V1526E | Missense | SNP | 0.552 | 2 | - | - |
MYH15 | p.A30V | Missense | SNP | 0.569 | 2 | - | - |
MYH3 | p.X894_splice | Splice_Site | SNP | 0.536 | 2 | - | - |
MYH4 | p.X1328_splice p.E779K | Splice_Site Missense | SNP SNP | 0.457 0.512 | 2 | - | - |
MYH6 | p.V649M | Missense | SNP | 0.561 | 2 | - | - |
MYH7 | p.G181E | Missense | SNP | 0.516 | 2 | - | - |
MYH7B | p.T526N | Missense | SNP | 0.536 | 2 | - | - |
MYH8 | p.Q805* | Nonsense | SNP | 0.470 | 2 | - | - |
MYL10 | p.S45P | Missense | SNP | 0.456 | 2 | - | - |
MYL3 | - | - | - | - | 1 | Loss | - |
MYLK | p.S1345N | Missense | SNP | 0.561 | 2 | - | - |
MYO10 | - | - | - | - | 4 | Gain | - |
MYO15A | p.E2962K | Missense | SNP | 0.524 | 2 | - | - |
MYO16 | p.N405T | Missense | SNP | 0.713 | 3 | Gain | - |
MYO18B | p.A184T p.P1511L | Missense Missense | SNP SNP | 0.098 0.265 | 2 | - | - |
MYO9B | p.G1292R | Missense | SNP | 0.559 | 2 | - | - |
MYOM1 | p.S715F | Missense | SNP | 0.472 | 2 | - | - |
MYOM2 | - | - | - | - | 1 | Loss | - |
MYOM3 | p.P700Rfs*10 p.R513* | Frame_Shift_Del Nonsense | DEL SNP | 0.155 0.493 | 2 | - | - |
MYORG | - | - | - | - | 1 | Loss | - |
MYOZ3 | p.G14V p.P167F | Missense Missense | SNP MNP | 0.275 0.454 | 2 | - | - |
MYPN | p.I891* | Frame_Shift_Del | DEL | 0.381 | 2 | - | - |
MYRF | p.S264Afs*8 p.K745Qfs*57 | Frame_Shift_Del Frame_Shift_Ins | DEL INS | 0.424 0.259 | 2 | - | - |
MYRIP | - | - | - | - | 1 | Loss | - |
MZT1 | - | - | - | - | 3 | Gain | - |
MZT2B | - | - | - | - | 1 | Loss | - |
N4BP2L1 | - | - | - | - | 3 | Gain | - |
N4BP2L2 | - | - | - | - | 3 | Gain | - |
NAA16 | p.E63Kfs*38 | Frame_Shift_Del | DEL | 0.331 | 3 | Gain | - |
NAA80 | - | - | - | - | 1 | Loss | - |
NAAA | p.H290N | Missense | SNP | 0.389 | 2 | - | - |
NADK2 | - | - | - | - | 4 | Gain | - |
NAIP | - | - | - | - | 1 | Loss | - |
NALCN | - | - | - | - | 3 | Gain | - |
NANP | p.Y39C | Missense | SNP | 0.527 | 2 | - | - |
NAPRT | - | - | - | - | 3 | Gain | - |
NAT1 | - | - | - | - | 1 | Loss | - |
NAT2 | - | - | - | - | 1 | Loss | - |
NAV3 | p.R398C p.P2240S | Missense Missense | SNP SNP | 0.474 0.367 | 2 | - | - |
NAXD | - | - | - | - | 3 | Gain | - |
NBEA | p.G1113E p.P2655S | Missense Missense | SNP SNP | 0.274 0.677 | 3 | Gain | - |
NBEAL2 | - | - | - | - | 1 | Loss | - |
NBL1 | p.H208Tfs*? | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
NBN | - | - | - | - | 3 | Gain | - |
NCALD | - | - | - | - | 3 | Gain | - |
NCAM1 | p.V695I | Missense | SNP | 0.986 | 1 | Loss | - |
NCAM2 | p.G326K | Missense | MNP | 0.481 | 2 | - | - |
NCAPD2 | p.A1162T | Missense | SNP | 0.493 | 2 | - | - |
NCAPD3 | - | - | - | - | 1 | Loss | - |
NCKAP1L | p.D97N | Missense | SNP | 0.313 | 2 | - | - |
NCKIPSD | - | - | - | - | 1 | Loss | - |
NCOA2 | - | - | - | - | 3 | Gain | - |
NCOA3 | p.R683Q p.M1407L | Missense Missense | SNP SNP | 0.402 0.440 | 2 | - | - |
NCOR1 | p.G1063D | Missense | SNP | 0.449 | 2 | - | - |
NDFIP2 | - | - | - | - | 3 | Gain | - |
NDRG1 | - | - | - | - | 3 | Gain | - |
NDUFAF3 | - | - | - | - | 1 | Loss | - |
NDUFAF6 | - | - | - | - | 3 | Gain | - |
NDUFB6 | - | - | - | - | 1 | Loss | - |
NDUFB9 | - | - | - | - | 3 | Gain | - |
NDUFS6 | - | - | - | - | 4 | Gain | - |
NEB | p.R8004H p.S7788* p.D2218G | Missense Nonsense Missense | SNP SNP SNP | 0.387 0.475 0.489 | 2 | - | - |
NECAB1 | - | - | - | - | 3 | Gain | - |
NECTIN1 | - | - | - | - | 1 | Loss | - |
NEFL | - | - | - | - | 1 | Loss | - |
NEFM | - | - | - | - | 1 | Loss | - |
NEIL2 | - | - | - | - | 1 | Loss | - |
NEK10 | - | - | - | - | 1 | Loss | - |
NEK3 | p.S447F | Missense | SNP | 0.629 | 3 | Gain | - |
NEK4 | - | - | - | - | 1 | Loss | - |
NEK5 | p.S702N | Missense | SNP | 0.637 | 3 | Gain | - |
NELL1 | p.Y472C | Missense | SNP | 0.480 | 2 | - | - |
NET1 | - | - | - | - | 3 | Gain | - |
NEU2 | p.R204H | Missense | SNP | 0.523 | 2 | - | - |
NFATC2 | p.P296Lfs*7 | Frame_Shift_Del | DEL | 0.517 | 2 | - | - |
NFATC3 | p.P404L | Missense | SNP | 0.459 | 2 | - | - |
NFIB | - | - | - | - | 1 | Loss | - |
NFKBIB | p.P344Qfs*19 | Frame_Shift_Del | DEL | 0.495 | 2 | - | - |
NFKBIE | p.G34E | Missense | SNP | 0.560 | 2 | - | - |
NFRKB | - | - | - | - | 1 | Loss | - |
NFX1 | - | - | - | - | 1 | Loss | - |
NGLY1 | - | - | - | - | 1 | Loss | - |
NHLRC3 | - | - | - | - | 3 | Gain | - |
NHSL1 | p.L570* p.S1251F | Frame_Shift_Del Missense | DEL SNP | 0.429 0.451 | 2 | - | - |
NICN1 | - | - | - | - | 1 | Loss | - |
NIM1K | - | - | - | - | 4 | Gain | - |
NIN | p.G1159R | Missense | SNP | 0.554 | 2 | - | - |
NIPA1 | p.D66H p.P91H | Missense Missense | SNP SNP | 0.460 0.570 | 2 | - | - |
NIPAL2 | - | - | - | - | 3 | Gain | - |
NIPBL | - | - | - | - | 4 | Gain | - |
NISCH | - | - | - | - | 1 | Loss | - |
NKAIN3 | - | - | - | - | 3 | Gain | - |
NKAPD1 | - | - | - | - | 1 | Loss | - |
NKD1 | p.H458dup | In_Frame_Ins | INS | 0.227 | 2 | - | - |
NKD2 | - | - | - | - | 4 | Gain | - |
NKIRAS1 | - | - | - | - | 1 | Loss | - |
NKTR | p.S1333F | Missense | SNP | 1.000 | 1 | Loss | - |
NKX2-6 | - | - | - | - | 1 | Loss | - |
NKX3-1 | - | - | - | - | 1 | Loss | - |
NKX6-3 | - | - | - | - | 1 | Loss | - |
NLGN3 | p.A683T | Missense | SNP | 0.991 | ND | ND | - |
NLRP10 | p.M510T | Missense | SNP | 0.447 | 2 | - | - |
NLRP11 | p.Y587C | Missense | SNP | 0.542 | 2 | - | - |
NLRP13 | p.Y20Lfs*55 p.T243A | Frame_Shift_Ins Missense | INS SNP | 0.344 0.503 | 2 | - | - |
NLRP4 | p.V453M p.G539E | Missense Missense | SNP SNP | 0.559 0.487 | 2 | - | - |
NLRX1 | - | - | - | - | 1 | Loss | - |
NME6 | - | - | - | - | 1 | Loss | - |
NMT2 | - | - | - | - | 3 | Gain | - |
NNMT | - | - | - | - | 1 | Loss | - |
NNT | - | - | - | - | 4 | Gain | - |
NOL4L | p.G413N | Missense | MNP | 0.567 | 2 | - | - |
NOL6 | - | - | - | - | 1 | Loss | - |
NOL8 | p.N554S | Missense | SNP | 0.307 | 2 | - | - |
NOS1 | p.G676Afs*64 p.T1349M | Frame_Shift_Del Missense | DEL SNP | 0.495 0.476 | 2 | - | - |
NOS3 | p.P42Q | Missense | SNP | 0.571 | 2 | - | - |
NOTCH1 | p.G270Vfs*7 | Frame_Shift_Del | DEL | 0.945 | 2 | - | - |
NOTCH2 | p.S1419Afs*8 p.D1451N;p.W1450* | Frame_Shift_Del Nonsense | DEL MNP | 0.418 0.506 | 2 | - | - |
NOV | - | - | - | - | 3 | Gain | - |
NPAP1 | p.N460T p.P645S | Missense Missense | SNP SNP | 0.522 0.453 | 2 | - | - |
NPAT | p.S539L | Missense | SNP | 0.564 | 1 | Loss | - |
NPBWR1 | - | - | - | - | 3 | Gain | - |
NPBWR2 | p.R238K | Missense | SNP | 0.573 | 2 | - | - |
NPC2 | p.P86S | Missense | SNP | 0.421 | 2 | - | - |
NPEPL1 | p.V412A | Missense | SNP | 0.463 | 2 | - | - |
NPHP4 | p.P776S p.V422I | Missense Missense | SNP SNP | 0.529 0.448 | 2 | - | - |
NPHS1 | p.R407W | Missense | SNP | 0.498 | 2 | - | - |
NPM2 | - | - | - | - | 1 | Loss | - |
NPR2 | - | - | - | - | 1 | Loss | - |
NPR3 | - | - | - | - | 4 | Gain | - |
NPRL2 | - | - | - | - | 1 | Loss | - |
NPTN | p.X204_splice | Splice_Site | SNP | 0.563 | 2 | - | - |
NPTX1 | p.W319* | Nonsense | MNP | 0.520 | 2 | - | - |
NPY1R | p.P278T | Missense | SNP | 0.059 | 2 | - | - |
NR1D2 | - | - | - | - | 1 | Loss | - |
NR2C2 | - | - | - | - | 1 | Loss | - |
NR2E1 | p.G72S | Missense | SNP | 0.495 | 2 | - | - |
NR4A2 | p.N294Mfs*7 | Frame_Shift_Del | DEL | 0.333 | 2 | - | - |
NRAS | p.A91V | Missense | SNP | 0.491 | 2 | - | - |
NRBP2 | - | - | - | - | 3 | Gain | - |
NRG1 | p.A93T | Missense | SNP | 0.080 | 1 | Loss | - |
NRG3 | p.P553L | Missense | SNP | 0.342 | 2 | - | - |
NRGN | p.P61Afs*23 | Frame_Shift_Ins | INS | 0.452 | 1 | Loss | - |
NRIP1 | p.E729Rfs*5 | Frame_Shift_Del | DEL | 0.099 | 2 | - | - |
NRL | p.R207C | Missense | SNP | 0.518 | 2 | - | - |
NRXN2 | p.A270Pfs*57 | Frame_Shift_Del | DEL | 0.488 | 2 | - | - |
NRXN3 | p.N872S | Missense | SNP | 0.485 | 2 | - | - |
NSD3 | - | - | - | - | 1 | Loss | - |
NSF | p.L481F | Missense | SNP | 0.251 | 2 | - | - |
NSMAF | - | - | - | - | 3 | Gain | - |
NSMCE2 | p.Y209F | Missense | SNP | 0.631 | 3 | Gain | - |
NSUN2 | - | - | - | - | 4 | Gain | - |
NSUN3 | p.I43M | Missense | SNP | 0.264 | 2 | - | - |
NSUN6 | - | - | - | - | 3 | Gain | - |
NSUN7 | p.R541W | Missense | SNP | 0.495 | 2 | - | - |
NT5DC2 | - | - | - | - | 1 | Loss | - |
NT5DC3 | p.P51Rfs*3 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
NTM | - | - | - | - | 1 | Loss | - |
NTN5 | p.H124Y | Missense | SNP | 0.515 | 2 | - | - |
NUDCD1 | p.E451K p.R292Q | Missense Missense | SNP SNP | 0.646 0.204 | 3 | Gain | - |
NUDT15 | - | - | - | - | 3 | Gain | - |
NUDT18 | - | - | - | - | 1 | Loss | - |
NUDT2 | - | - | - | - | 1 | Loss | - |
NUDT5 | - | - | - | - | 3 | Gain | - |
NUFIP1 | - | - | - | - | 3 | Gain | - |
NUGGC | - | - | - | - | 1 | Loss | - |
NUP155 | - | - | - | - | 4 | Gain | - |
NUP210 | - | - | - | - | 1 | Loss | - |
NUP214 | p.A53S | Missense | SNP | 1.000 | 2 | - | - |
NUP58 | p.S170F | Missense | SNP | 0.648 | 3 | Gain | - |
NXPE1 | - | - | - | - | 1 | Loss | - |
NXPE2 | - | - | - | - | 1 | Loss | - |
NXPE4 | - | - | - | - | 1 | Loss | - |
NYAP1 | p.N190Tfs*13 | Frame_Shift_Del | DEL | 0.085 | 2 | - | - |
OAF | - | - | - | - | 1 | Loss | - |
OBSL1 | p.P804S p.V686I | Missense Missense | SNP SNP | 0.449 0.073 | 2 | - | - |
OC90 | - | - | - | - | 3 | Gain | - |
OCA2 | p.K614Sfs*14 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
ODF1 | - | - | - | - | 3 | Gain | - |
OGDH | p.P430S | Missense | SNP | 0.504 | 2 | - | - |
OGDHL | p.P839L | Missense | SNP | 0.469 | 2 | - | - |
OGG1 | - | - | - | - | 1 | Loss | - |
OLAH | p.F107Lfs*5 | Frame_Shift_Del | DEL | 0.071 | 3 | Gain | - |
OLFM2 | p.R125K | Missense | SNP | 0.520 | 2 | - | - |
OLFM4 | - | - | - | - | 3 | Gain | - |
OLFML2A | p.A3D | Missense | SNP | 0.575 | 2 | - | - |
OPCML | - | - | - | - | 1 | Loss | - |
OPLAH | - | - | - | - | 3 | Gain | - |
OPRK1 | - | - | - | - | 3 | Gain | - |
OPRM1 | p.V2I p.C397F | Missense Missense | SNP SNP | 0.442 0.500 | 2 | - | - |
OPTN | - | - | - | - | 3 | Gain | - |
OR10A7 | p.F107del | In_Frame_Del | DEL | 0.411 | 2 | - | - |
OR10D3 | - | - | - | - | 1 | Loss | - |
OR10G3 | p.M60Hfs*12 | Frame_Shift_Ins | INS | 0.312 | 2 | - | - |
OR10G4 | - | - | - | - | 1 | Loss | - |
OR10G7 | - | - | - | - | 1 | Loss | - |
OR10G8 | - | - | - | - | 1 | Loss | - |
OR10G9 | - | - | - | - | 1 | Loss | - |
OR10H1 | p.T57M | Missense | SNP | 0.213 | 2 | - | - |
OR10K1 | p.R122C | Missense | SNP | 0.502 | 2 | - | - |
OR10S1 | - | - | - | - | 1 | Loss | - |
OR10T2 | p.A199S | Missense | SNP | 0.100 | 2 | - | - |
OR13D1 | p.G138D | Missense | SNP | 0.994 | 2 | - | - |
OR13J1 | - | - | - | - | 1 | Loss | - |
OR14K1 | p.I112N | Missense | SNP | 0.484 | 2 | - | - |
OR1L1 | p.G41E | Missense | SNP | 1.000 | 2 | - | - |
OR1L3 | p.E196K | Missense | SNP | 1.000 | 2 | - | - |
OR2A2 | p.A299T | Missense | SNP | 0.464 | 2 | - | - |
OR2B11 | p.S71F | Missense | SNP | 0.488 | 2 | - | - |
OR2G3 | p.T161A | Missense | SNP | 0.552 | 2 | - | - |
OR2G6 | p.G16R | Missense | SNP | 0.416 | 2 | - | - |
OR2M3 | p.S10F p.S165F | Missense Missense | SNP SNP | 0.353 0.463 | 2 | - | - |
OR2M4 | p.E173K | Missense | SNP | 0.483 | 2 | - | - |
OR2S2 | - | - | - | - | 1 | Loss | - |
OR2T1 | p.P211S | Missense | SNP | 0.444 | 2 | - | - |
OR2T10 | p.L114F | Missense | SNP | 0.496 | 2 | - | - |
OR2T27 | p.S7F | Missense | SNP | 0.133 | 2 | - | - |
OR2V2 | p.G305R | Missense | SNP | 0.530 | 2 | - | - |
OR3A2 | p.A161V | Missense | SNP | 0.289 | 2 | - | - |
OR4D5 | - | - | - | - | 1 | Loss | - |
OR4F6 | p.R122Q | Missense | SNP | 0.483 | 2 | - | - |
OR4N5 | p.G204S | Missense | SNP | 0.481 | 2 | - | - |
OR51B5 | p.G91R | Missense | SNP | 0.444 | 2 | - | - |
OR56A3 | p.R231K | Missense | SNP | 0.312 | 2 | - | - |
OR5AR1 | p.V154L | Missense | SNP | 0.420 | 2 | - | - |
OR5AS1 | p.G253E | Missense | SNP | 0.416 | 2 | - | - |
OR5B12 | p.G70D | Missense | SNP | 0.454 | 2 | - | - |
OR5H2 | p.G247R | Missense | SNP | 0.518 | 2 | - | - |
OR5I1 | p.S93F | Missense | SNP | 0.488 | 2 | - | - |
OR5K1 | p.S156F | Missense | SNP | 0.485 | 2 | - | - |
OR5P3 | p.G151Vfs*4 | Frame_Shift_Del | DEL | 0.485 | 2 | - | - |
OR6J1 | p.G2S | Missense | SNP | 0.571 | 2 | - | - |
OR6M1 | - | - | - | - | 1 | Loss | - |
OR6P1 | p.A33Cfs*59 | Frame_Shift_Ins | INS | 0.268 | 2 | - | - |
OR6T1 | - | - | - | - | 1 | Loss | - |
OR6X1 | - | - | - | - | 1 | Loss | - |
OR8A1 | - | - | - | - | 1 | Loss | - |
OR8B12 | - | - | - | - | 1 | Loss | - |
OR8B2 | - | - | - | - | 1 | Loss | - |
OR8B3 | - | - | - | - | 1 | Loss | - |
OR8B4 | - | - | - | - | 1 | Loss | - |
OR8B8 | - | - | - | - | 1 | Loss | - |
OR8D1 | - | - | - | - | 1 | Loss | - |
OR8D2 | - | - | - | - | 1 | Loss | - |
OR8D4 | - | - | - | - | 1 | Loss | - |
OR8G1 | - | - | - | - | 1 | Loss | - |
OR8G5 | - | - | - | - | 1 | Loss | - |
OR8K3 | p.V77A | Missense | SNP | 0.082 | 2 | - | - |
OSBPL10 | - | - | - | - | 1 | Loss | - |
OSBPL6 | p.P587S | Missense | SNP | 0.440 | 2 | - | - |
OSGIN2 | - | - | - | - | 3 | Gain | - |
OSMR | - | - | - | - | 4 | Gain | - |
OSR2 | - | - | - | - | 3 | Gain | - |
OTOG | p.S300F | Missense | SNP | 0.586 | 2 | - | - |
OTUD6B | - | - | - | - | 3 | Gain | - |
OTUD7B | p.D154Efs*18 | Frame_Shift_Ins | INS | 0.266 | 2 | - | - |
OTULIN | - | - | - | - | 4 | Gain | - |
OTULINL | - | - | - | - | 4 | Gain | - |
OVOS2 | p.I69T | Missense | SNP | 0.592 | ND | ND | - |
OXCT1 | - | - | - | - | 4 | Gain | - |
OXER1 | p.S78Pfs*64 p.R393H | Frame_Shift_Del Missense | DEL SNP | 0.554 0.581 | 2 | - | - |
OXGR1 | - | - | - | - | 3 | Gain | - |
OXNAD1 | - | - | - | - | 1 | Loss | - |
OXR1 | - | - | - | - | 3 | Gain | - |
OXSM | - | - | - | - | 1 | Loss | - |
OXSR1 | - | - | - | - | 1 | Loss | - |
OXTR | - | - | - | - | 1 | Loss | - |
P2RY1 | p.W117* | Nonsense | SNP | 0.559 | 2 | - | - |
P4HA2 | p.E259Kfs*10 | Frame_Shift_Del | DEL | 0.469 | 2 | - | - |
P4HTM | - | - | - | - | 1 | Loss | - |
PABPC1 | - | - | - | - | 3 | Gain | - |
PABPC3 | - | - | - | - | 3 | Gain | - |
PADI4 | p.K522Nfs*5 | Frame_Shift_Del | DEL | 0.416 | 2 | - | - |
PAFAH1B2 | - | - | - | - | 1 | Loss | - |
PAG1 | p.G19R | Missense | SNP | 0.681 | 3 | Gain | - |
PAIP1 | - | - | - | - | 4 | Gain | - |
PAK1 | p.P469S | Missense | SNP | 0.475 | 2 | - | - |
PAK5 | p.Q37* | Nonsense | SNP | 0.456 | 2 | - | - |
PALLD | p.A123V | Missense | SNP | 0.557 | 2 | - | - |
PAN3 | - | - | - | - | 3 | Gain | - |
PANX3 | - | - | - | - | 1 | Loss | - |
PAPD7 | p.G489V | Missense | SNP | 0.161 | ND | ND | - |
PAPPA2 | p.S1686Vfs*4 p.V1725I | Frame_Shift_Del Missense | DEL SNP | 0.270 0.534 | 2 | - | - |
PARP10 | - | - | - | - | 3 | Gain | - |
PARP3 | - | - | - | - | 1 | Loss | - |
PARP4 | - | - | - | - | 3 | Gain | - |
PARPBP | p.S176L | Missense | SNP | 0.500 | 2 | - | - |
PARVG | p.R307Qfs*61 | Frame_Shift_Ins | INS | 0.319 | 2 | - | - |
PATE1 | - | - | - | - | 1 | Loss | - |
PATE2 | - | - | - | - | 1 | Loss | - |
PATE3 | - | - | - | - | 1 | Loss | - |
PATE4 | - | - | - | - | 1 | Loss | - |
PAX1 | p.G6R | Missense | SNP | 0.351 | 2 | - | - |
PAX5 | - | - | - | - | 1 | Loss | - |
PAX6 | - | - | - | - | 3 | Gain | - |
PAX9 | p.D316G | Missense | SNP | 0.529 | 2 | - | - |
PBK | - | - | - | - | 1 | Loss | - |
PBRM1 | - | - | - | - | 1 | Loss | - |
PCBD2 | p.D116Mfs*2 | Frame_Shift_Del | DEL | 0.454 | 2 | - | - |
PCBP4 | - | - | - | - | 1 | Loss | - |
PCCA | - | - | - | - | 3 | Gain | - |
PCDH15 | p.P1534L p.G1354E p.I211N | Missense Missense Missense | SNP SNP SNP | 0.319 0.595 0.478 | 3 | Gain | - |
PCDH17 | p.N765Kfs*2 p.S908F | Frame_Shift_Ins Missense | INS SNP | 0.210 0.419 | 3 | Gain | - |
PCDH20 | - | - | - | - | 3 | Gain | - |
PCDH7 | - | - | - | - | 1 | Loss | - |
PCDH8 | - | - | - | - | 3 | Gain | - |
PCDH9 | - | - | - | - | 3 | Gain | - |
PCDHA1 | p.C705G | Missense | SNP | 0.529 | 2 | - | - |
PCDHA12 | p.L700I | Missense | SNP | 0.471 | 2 | - | - |
PCDHA7 | p.P774S | Missense | SNP | 0.496 | 2 | - | - |
PCDHA8 | p.R635H p.S668L | Missense Missense | SNP SNP | 0.462 0.453 | 2 | - | - |
PCDHB13 | p.L140S | Missense | SNP | 0.563 | 2 | - | - |
PCDHB14 | p.D128N | Missense | SNP | 0.527 | 2 | - | - |
PCDHB2 | p.G327R | Missense | SNP | 0.490 | 2 | - | - |
PCDHB4 | p.S517L | Missense | SNP | 0.366 | 2 | - | - |
PCDHGA1 | p.E803Gfs*31 p.V643M | Frame_Shift_Ins Missense | INS SNP | 0.266 0.377 | 2 | - | - |
PCDHGA12 | p.R80H | Missense | SNP | 0.482 | 2 | - | - |
PCDHGA4 | p.G409E p.E444K | Missense Missense | SNP SNP | 0.495 0.455 | 2 | - | - |
PCDHGA5 | p.I288Ffs*33 | Frame_Shift_Del | DEL | 0.410 | 2 | - | - |
PCDHGA6 | p.A206V p.L621P | Missense Missense | SNP SNP | 0.531 0.561 | 2 | - | - |
PCDHGA8 | p.G275R | Missense | SNP | 0.582 | 2 | - | - |
PCDHGB6 | p.V578A | Missense | SNP | 0.522 | 2 | - | - |
PCED1B | p.S129F p.N145S | Missense Missense | SNP SNP | 0.498 0.494 | 2 | - | - |
PCID2 | - | - | - | - | 3 | Gain | - |
PCLO | p.K5063Rfs*2 p.R5076Q p.S4957N p.G3427R;p.M3426I p.N2707D p.E811K | Frame_Shift_Del Missense Missense Missense Missense Missense | DEL SNP SNP MNP SNP SNP | 0.642 0.326 0.526 0.464 0.568 0.531 | 2 | - | - |
PCM1 | - | - | - | - | 1 | Loss | - |
PCMTD1 | p.R253H | Missense | SNP | 0.175 | 3 | Gain | - |
PCSK7 | - | - | - | - | 1 | Loss | - |
PDCD1LG2 | - | - | - | - | 1 | Loss | - |
PDCD6 | - | - | - | - | 3 | Gain | - |
PDCD6IP | - | - | - | - | 1 | Loss | - |
PDE10A | p.S677F | Missense | SNP | 0.452 | 2 | - | - |
PDE12 | - | - | - | - | 1 | Loss | - |
PDE4C | p.T225I | Missense | SNP | 0.470 | 2 | - | - |
PDE7A | p.R48H | Missense | SNP | 0.237 | 3 | Gain | - |
PDGFRL | - | - | - | - | 1 | Loss | - |
PDHB | - | - | - | - | 1 | Loss | - |
PDLIM2 | - | - | - | - | 1 | Loss | - |
PDLIM3 | p.P100S | Missense | SNP | 0.554 | 2 | - | - |
PDLIM5 | p.V233L | Missense | SNP | 0.481 | 2 | - | - |
PDP1 | p.Y224* | Frame_Shift_Del | DEL | 0.314 | 3 | Gain | - |
PDPR | p.L268F | Missense | SNP | 0.404 | 2 | - | - |
PDS5B | - | - | - | - | 3 | Gain | - |
PDX1 | - | - | - | - | 3 | Gain | - |
PDZD2 | p.C1191F | Missense | SNP | 0.772 | 4 | Gain | - |
PDZD3 | - | - | - | - | 1 | Loss | - |
PDZRN3 | - | - | - | - | 1 | Loss | - |
PEBP4 | - | - | - | - | 1 | Loss | - |
PEG3 | p.Q1232E p.K497T | Missense Missense | SNP SNP | 0.486 0.423 | 2 | - | - |
PENK | - | - | - | - | 3 | Gain | - |
PES1 | p.P125S | Missense | SNP | 0.204 | 2 | - | - |
PEX11G | p.P241S | Missense | SNP | 0.441 | 2 | - | - |
PEX2 | - | - | - | - | 3 | Gain | - |
PFKFB2 | p.G315E | Missense | SNP | 0.531 | 2 | - | - |
PFKFB3 | - | - | - | - | 3 | Gain | - |
PFKFB4 | - | - | - | - | 1 | Loss | - |
PFKP | - | - | - | - | 3 | Gain | - |
PHACTR3 | p.E86K | Missense | SNP | 0.511 | 2 | - | - |
PHEX | p.G575E | Missense | SNP | 1.000 | ND | ND | - |
PHF11 | - | - | - | - | 3 | Gain | - |
PHF14 | p.P812L | Missense | SNP | 0.447 | 2 | - | - |
PHF19 | p.S126L | Missense | SNP | 0.987 | 2 | - | - |
PHF20L1 | p.I826* | Frame_Shift_Del | DEL | 0.684 | 3 | Gain | - |
PHF24 | - | - | - | - | 1 | Loss | - |
PHF7 | - | - | - | - | 1 | Loss | - |
PHGR1 | p.H37Tfs*71 | Frame_Shift_Del | DEL | 0.481 | 2 | - | - |
PHLDB1 | - | - | - | - | 1 | Loss | - |
PHLPP1 | - | - | - | - | 1 | Loss | - |
PHYH | - | - | - | - | 3 | Gain | - |
PHYHIP | - | - | - | - | 1 | Loss | - |
PI15 | - | - | - | - | 3 | Gain | - |
PIANP | p.R49K | Missense | SNP | 0.476 | 2 | - | - |
PIBF1 | - | - | - | - | 3 | Gain | - |
PIEZO2 | p.Q1534Afs*8 p.S2468R | Frame_Shift_Ins Missense | INS SNP | 0.300 0.537 | 2 | - | - |
PIGN | - | - | - | - | 1 | Loss | - |
PIGO | - | - | - | - | 1 | Loss | - |
PIH1D2 | - | - | - | - | 1 | Loss | - |
PIK3R3 | p.E254K | Missense | SNP | 0.466 | 2 | - | - |
PIK3R4 | p.P420S | Missense | SNP | 0.467 | 2 | - | - |
PINX1 | - | - | - | - | 1 | Loss | - |
PIP4P2 | - | - | - | - | 3 | Gain | - |
PIP5K1A | p.D189E | Missense | SNP | 0.531 | 2 | - | - |
PITPNM1 | p.W803* | Nonsense | SNP | 0.578 | 2 | - | - |
PITPNM2 | p.M203I | Missense | SNP | 0.428 | 2 | - | - |
PITRM1 | - | - | - | - | 3 | Gain | - |
PIWIL2 | - | - | - | - | 1 | Loss | - |
PKHD1L1 | p.K2189Nfs*27 | Frame_Shift_Del | DEL | 0.601 | 3 | Gain | - |
PKIA | - | - | - | - | 3 | Gain | - |
PKNOX2 | - | - | - | - | 1 | Loss | - |
PKP2 | p.E675K p.R204C | Missense Missense | SNP SNP | 0.492 0.510 | 2 | - | - |
PLA2G12A | - | - | - | - | 3 | Gain | - |
PLAA | - | - | - | - | 1 | Loss | - |
PLAG1 | - | - | - | - | 3 | Gain | - |
PLAGL2 | p.W11Gfs*15 | Frame_Shift_Del | DEL | 0.489 | 2 | - | - |
PLAT | - | - | - | - | 1 | Loss | - |
PLCD1 | - | - | - | - | 1 | Loss | - |
PLCG2 | - | - | - | - | 2 | - | UBA52--PLCG2 |
PLCH1 | p.L440I | Missense | SNP | 0.447 | 2 | - | - |
PLCL2 | - | - | - | - | 1 | Loss | - |
PLCXD3 | - | - | - | - | 4 | Gain | - |
PLEC | - | - | - | - | 3 | Gain | - |
PLEKHA2 | - | - | - | - | 1 | Loss | - |
PLEKHF2 | - | - | - | - | 3 | Gain | - |
PLEKHG1 | p.G161E p.A802T | Missense Missense | SNP SNP | 0.507 0.524 | 2 | - | - |
PLEKHG2 | p.Q1322Sfs*37 | Frame_Shift_Del | DEL | 0.460 | 2 | - | - |
PLEKHG4B | - | - | - | - | 3 | Gain | - |
PLEKHM3 | p.Q414* | Nonsense | SNP | 0.585 | 2 | - | - |
PLET1 | - | - | - | - | 1 | Loss | - |
PLGRKT | - | - | - | - | 1 | Loss | - |
PLIN2 | - | - | - | - | 1 | Loss | - |
PLIN4 | p.A149V | Missense | SNP | 0.478 | 2 | - | - |
PLK3 | p.A453T | Missense | SNP | 0.474 | 2 | - | - |
PLPBP | - | - | - | - | 1 | Loss | - |
PLPP5 | - | - | - | - | 1 | Loss | - |
PLPP6 | - | - | - | - | 1 | Loss | - |
PLPP7 | p.G97E | Missense | SNP | 0.995 | 2 | - | - |
PLVAP | p.S18F | Missense | SNP | 0.433 | 2 | - | - |
PLXNA4 | p.V605I p.D351N | Missense Missense | SNP SNP | 0.433 0.445 | 2 | - | - |
PLXNB1 | - | - | - | - | 1 | Loss | - |
PLXNB2 | p.T1532M p.E1269D | Missense Missense | SNP SNP | 0.889 0.068 | 2 | - | - |
PMAIP1 | - | - | - | - | 1 | Loss | - |
PML | p.A602T | Missense | SNP | 0.552 | 2 | - | - |
PMP2 | - | - | - | - | 3 | Gain | - |
PNLIP | p.K86I | Missense | MNP | 0.469 | 2 | - | - |
PNMA2 | - | - | - | - | 1 | Loss | - |
PNOC | - | - | - | - | 1 | Loss | - |
POC1A | - | - | - | - | 1 | Loss | - |
POGLUT1 | p.A339V | Missense | SNP | 0.519 | 2 | - | - |
POLB | - | - | - | - | 1 | Loss | - |
POLD1 | p.R667W | Missense | SNP | 0.517 | 2 | - | - |
POLN | p.K132R | Missense | SNP | 0.477 | 2 | - | - |
POLR1B | p.P569S | Missense | SNP | 0.393 | 2 | - | - |
POLR1D | - | - | - | - | 3 | Gain | - |
POLR1E | - | - | - | - | 1 | Loss | - |
POLR2J2 | - | - | - | - | 1 | Loss | - |
POLR2J3 | - | - | - | - | 1 | Loss | - |
POLR2K | - | - | - | - | 3 | Gain | - |
POLR3D | - | - | - | - | 1 | Loss | - |
POM121L12 | p.P46S | Missense | SNP | 0.497 | 2 | - | - |
POM121L2 | p.P60L | Missense | MNP | 0.464 | 2 | - | - |
POMGNT2 | - | - | - | - | 1 | Loss | - |
POMK | - | - | - | - | 1 | Loss | - |
POMP | - | - | - | - | 3 | Gain | - |
POP1 | - | - | - | - | 3 | Gain | - |
POSTN | - | - | - | - | 3 | Gain | - |
POTED | - | - | - | - | 1 | Loss | - |
POTEF | - | - | - | - | 1 | Loss | - |
POU2AF1 | - | - | - | - | 1 | Loss | - |
POU2F3 | - | - | - | - | 1 | Loss | - |
POU3F4 | p.G149R | Missense | SNP | 0.988 | ND | ND | - |
POU4F1 | - | - | - | - | 3 | Gain | - |
POU5F1B | - | - | - | - | 3 | Gain | - |
PP2D1 | - | - | - | - | 1 | Loss | - |
PPARG | - | - | - | - | 1 | Loss | - |
PPARGC1A | p.G290E | Missense | SNP | 0.460 | 2 | - | - |
PPARGC1B | p.L361Q | Missense | SNP | 0.500 | 2 | - | - |
PPDPFL | - | - | - | - | 3 | Gain | - |
PPFIA3 | p.G595K | Missense | MNP | 0.468 | 2 | - | - |
PPFIBP1 | p.P572L | Missense | SNP | 0.397 | 2 | - | - |
PPIL6 | p.K107R | Missense | SNP | 0.508 | 2 | - | - |
PPM1K | p.T327I | Missense | SNP | 0.553 | 2 | - | - |
PPM1M | - | - | - | - | 1 | Loss | - |
PPP1R12C | p.I373Sfs*51 | Frame_Shift_Del | DEL | 0.129 | 2 | - | - |
PPP1R13B | p.G111* | Nonsense | SNP | 0.486 | 2 | - | - |
PPP1R16A | - | - | - | - | 3 | Gain | - |
PPP1R26 | p.A152V | Missense | SNP | 0.842 | 2 | - | - |
PPP1R2P3 | p.M78I | Missense | SNP | 0.510 | ND | ND | - |
PPP1R3B | - | - | - | - | 1 | Loss | - |
PPP1R42 | - | - | - | - | 3 | Gain | - |
PPP2CB | - | - | - | - | 1 | Loss | - |
PPP2R1B | - | - | - | - | 1 | Loss | - |
PPP2R2A | - | - | - | - | 1 | Loss | - |
PPP2R2B | p.W412* | Nonsense | SNP | 0.518 | 2 | - | - |
PPP2R5D | p.A449T | Missense | SNP | 0.341 | 2 | - | - |
PPP3CC | - | - | - | - | 1 | Loss | - |
PPP4R2 | - | - | - | - | 1 | Loss | - |
PPP4R3A | p.R156H | Missense | SNP | 0.520 | 2 | - | - |
PPT1 | p.M57Wfs*14 | Frame_Shift_Del | DEL | 0.726 | 2 | - | - |
PRAG1 | - | - | - | - | 1 | Loss | - |
PRB2 | p.P123Hfs*308 | Frame_Shift_Del | DEL | 0.419 | 2 | - | - |
PRDM10 | - | - | - | - | 1 | Loss | - |
PRDM14 | - | - | - | - | 3 | Gain | - |
PRDM8 | p.L139W | Missense | SNP | 0.392 | 2 | - | - |
PRDM9 | - | - | - | - | 4 | Gain | - |
PREX2 | p.P1555S | Missense | SNP | 0.132 | 3 | Gain | - |
PRH1 | p.R46H | Missense | SNP | 0.084 | 2 | - | - |
PRH2 | p.R46H | Missense | SNP | 0.239 | 2 | - | - |
PRICKLE2 | - | - | - | - | 1 | Loss | - |
PRKAA1 | - | - | - | - | 4 | Gain | - |
PRKAA2 | - | - | - | - | 3 | Gain | - |
PRKACG | p.G32Efs*27 | Frame_Shift_Del | DEL | 0.437 | 2 | - | - |
PRKAR2A | - | - | - | - | 1 | Loss | - |
PRKCD | - | - | - | - | 1 | Loss | - |
PRKCQ | p.E137D | Missense | SNP | 0.321 | 3 | Gain | - |
PRKCSH | p.E503K | Missense | SNP | 0.495 | 2 | - | - |
PRKCZ | p.G130N | Missense | MNP | 0.517 | 2 | - | - |
PRKD1 | p.P256R | Missense | SNP | 0.282 | 2 | - | - |
PRKDC | - | - | - | - | 3 | Gain | - |
PRKG2 | p.G646S p.H106Y | Missense Missense | SNP SNP | 0.568 0.525 | 2 | - | - |
PRLR | p.P83L | Missense | SNP | 0.186 | 4 | Gain | - |
PRMT8 | p.S31Pfs*35 | Frame_Shift_Del | DEL | 0.396 | 2 | - | - |
PRMT9 | p.E309D | Missense | SNP | 0.492 | 2 | - | - |
PROK2 | - | - | - | - | 1 | Loss | - |
PROKR2 | p.E308K | Missense | SNP | 0.500 | 2 | - | - |
PROSER1 | p.A895S | Missense | SNP | 0.390 | 3 | Gain | - |
PROSER2 | - | - | - | - | 3 | Gain | - |
PROX2 | p.G202K | Missense | MNP | 0.390 | 2 | - | - |
PROZ | - | - | - | - | 3 | Gain | - |
PRPF18 | p.I297F | Missense | SNP | 0.270 | 3 | Gain | - |
PRPF6 | p.R135C | Missense | SNP | 0.459 | 2 | - | - |
PRR13 | p.E144K | Missense | SNP | 0.419 | 2 | - | - |
PRR23D1 | - | - | - | - | 1 | Loss | - |
PRR23D2 | - | - | - | - | 1 | Loss | - |
PRR26 | - | - | - | - | 3 | Gain | - |
PRR32 | p.P264S | Missense | SNP | 1.000 | ND | ND | - |
PRRC2B | p.V1093Sfs*77 | Frame_Shift_Del | DEL | 0.943 | 2 | - | - |
PRRT3 | - | - | - | - | 1 | Loss | - |
PRSS12 | p.R171* | Nonsense | SNP | 0.549 | 2 | - | - |
PRSS3 | - | - | - | - | 1 | Loss | - |
PRSS42 | - | - | - | - | 1 | Loss | - |
PRSS45 | - | - | - | - | 1 | Loss | - |
PRSS50 | - | - | - | - | 1 | Loss | - |
PRSS55 | - | - | - | - | 1 | Loss | - |
PRUNE2 | p.R583K | Missense | SNP | 0.484 | 2 | - | - |
PSCA | - | - | - | - | 3 | Gain | - |
PSD | p.S75Hfs*37 p.R112K | Frame_Shift_Del Missense | DEL SNP | 0.436 0.557 | 2 | - | - |
PSD3 | - | - | - | - | 1 | Loss | - |
PSD4 | p.G197R | Missense | SNP | 0.473 | 2 | - | - |
PSG8 | p.W181* | Nonsense | SNP | 0.481 | 2 | - | - |
PSIP1 | - | - | - | - | 1 | Loss | - |
PSKH2 | - | - | - | - | 3 | Gain | - |
PSMD6 | - | - | - | - | 1 | Loss | - |
PTDSS1 | - | - | - | - | 3 | Gain | - |
PTER | - | - | - | - | 3 | Gain | - |
PTGER2 | p.E294K | Missense | SNP | 0.484 | 2 | - | - |
PTGER4 | - | - | - | - | 4 | Gain | - |
PTGES3L-AARSD1 | p.A49V | Missense | SNP | 0.471 | 2 | - | - |
PTH1R | - | - | - | - | 1 | Loss | - |
PTK2 | - | - | - | - | 3 | Gain | - |
PTK2B | - | - | - | - | 1 | Loss | - |
PTP4A3 | - | - | - | - | 3 | Gain | - |
PTPN23 | - | - | - | - | 1 | Loss | - |
PTPRD | - | - | - | - | 1 | Loss | - |
PTPRG | - | - | - | - | 1 | Loss | - |
PTPRN | p.G31Afs*75 | Frame_Shift_Del | DEL | 0.485 | 2 | - | - |
PTPRQ | p.Q1651* | Nonsense | SNP | 0.414 | 2 | - | - |
PTPRU | p.L557M | Missense | SNP | 0.423 | 2 | - | - |
PTPRZ1 | p.S2081F | Missense | SNP | 0.470 | 2 | - | - |
PTS | p.M71I | Missense | SNP | 1.000 | 1 | Loss | - |
PUF60 | - | - | - | - | 3 | Gain | - |
PUM3 | - | - | - | - | 1 | Loss | - |
PURG | p.R297H | Missense | SNP | 0.958 | 1 | Loss | - |
PUS3 | - | - | - | - | 1 | Loss | - |
PXDN | p.H1423Y | Missense | SNP | 0.532 | 2 | - | - |
PXDNL | - | - | - | - | 3 | Gain | - |
PXK | - | - | - | - | 1 | Loss | - |
PYCR3 | - | - | - | - | 3 | Gain | - |
PYHIN1 | p.R211* | Nonsense | SNP | 0.545 | 2 | - | - |
QARS | - | - | - | - | 1 | Loss | - |
QKI | p.K134Rfs*14 | Frame_Shift_Del | DEL | 0.503 | 2 | - | - |
QPCT | p.V29Sfs*20 | Frame_Shift_Del | DEL | 0.437 | 2 | - | - |
QRICH1 | - | - | - | - | 1 | Loss | - |
R3HCC1 | p.Q221P | Missense | SNP | 1.000 | 1 | Loss | - |
RAB11FIP1 | - | - | - | - | 1 | Loss | - |
RAB20 | - | - | - | - | 3 | Gain | - |
RAB2A | - | - | - | - | 3 | Gain | - |
RAB39A | - | - | - | - | 1 | Loss | - |
RAB40B | p.T244P | Missense | SNP | 0.404 | 2 | - | - |
RAB5A | - | - | - | - | 1 | Loss | - |
RABGGTB | p.X1_splice | Splice_Site | DEL | 0.416 | 2 | - | - |
RABL6 | p.P294S | Missense | SNP | 1.000 | 2 | - | - |
RAD1 | - | - | - | - | 4 | Gain | - |
RAD18 | - | - | - | - | 1 | Loss | - |
RAD21 | - | - | - | - | 3 | Gain | - |
RAD54B | - | - | - | - | 3 | Gain | - |
RAD54L2 | p.F1309Sfs*34 | Frame_Shift_Del | DEL | 0.962 | 1 | Loss | - |
RADIL | p.G179E | Missense | SNP | 0.471 | 2 | - | - |
RAF1 | p.R391G | Missense | SNP | 1.000 | 1 | Loss | - |
RAI14 | - | - | - | - | 4 | Gain | - |
RALYL | - | - | - | - | 3 | Gain | - |
RANBP17 | p.P323S | Missense | SNP | 0.627 | 2 | - | - |
RANBP2 | - | - | - | - | 3 | Gain | - |
RANBP3L | - | - | - | - | 4 | Gain | - |
RANBP6 | - | - | - | - | 1 | Loss | - |
RANGRF | p.E156K | Missense | SNP | 0.390 | 2 | - | - |
RAP2A | - | - | - | - | 3 | Gain | - |
RAPGEF1 | p.V540D p.P236L p.R25H | Missense Missense Missense | SNP SNP SNP | 0.181 0.994 0.357 | 2 | - | - |
RAPGEF3 | p.D161Y | Missense | SNP | 0.473 | 2 | - | - |
RARB | - | - | - | - | 1 | Loss | - |
RASA3 | - | - | - | - | 3 | Gain | - |
RASA4 | - | - | - | - | 1 | Loss | - |
RASA4B | - | - | - | - | 1 | Loss | - |
RASAL1 | p.A668V | Missense | SNP | 0.413 | 2 | - | - |
RASGEF1C | p.T21Pfs*26 | Frame_Shift_Del | DEL | 0.412 | 2 | - | - |
RASGRF1 | p.E553K | Missense | SNP | 0.578 | 2 | - | - |
RASGRF2 | p.A34T p.L968F | Missense Missense | SNP SNP | 0.494 0.543 | 2 | - | - |
RASL11A | - | - | - | - | 3 | Gain | - |
RASSF1 | - | - | - | - | 1 | Loss | - |
RASSF2 | p.Q6* | Nonsense | SNP | 0.494 | 2 | - | - |
RAVER1 | p.R73C | Missense | SNP | 0.475 | 2 | - | - |
RAX | - | - | - | - | 1 | Loss | - |
RB1 | - | - | - | - | 3 | Gain | - |
RB1CC1 | - | - | - | - | 3 | Gain | - |
RBM12B | - | - | - | - | 3 | Gain | - |
RBM15B | - | - | - | - | 1 | Loss | - |
RBM17 | - | - | - | - | 3 | Gain | - |
RBM19 | p.A918V | Missense | SNP | 0.630 | 2 | - | - |
RBM25 | p.V842A | Missense | SNP | 0.385 | 2 | - | - |
RBM26 | - | - | - | - | 3 | Gain | - |
RBM5 | p.N745D | Missense | SNP | 0.688 | 1 | Loss | - |
RBM6 | - | - | - | - | 1 | Loss | - |
RBM7 | - | - | - | - | 1 | Loss | - |
RBMS3 | - | - | - | - | 1 | Loss | - |
RBMXL3 | p.G626R | Missense | SNP | 0.985 | ND | ND | - |
RBPMS | - | - | - | - | 1 | Loss | - |
RBSN | - | - | - | - | 1 | Loss | - |
RCBTB1 | - | - | - | - | 3 | Gain | - |
RCBTB2 | - | - | - | - | 3 | Gain | - |
RCC1L | p.S186F | Missense | SNP | 0.500 | 2 | - | - |
RCC2 | p.A260T | Missense | SNP | 0.299 | 2 | - | - |
RCL1 | - | - | - | - | 1 | Loss | - |
RDH10 | - | - | - | - | 3 | Gain | - |
RDX | - | - | - | - | 1 | Loss | - |
RECK | - | - | - | - | 1 | Loss | - |
RECQL | p.K80* | Nonsense | SNP | 0.568 | 2 | - | - |
RECQL4 | p.A204G | Missense | SNP | 0.327 | 3 | Gain | - |
REEP4 | - | - | - | - | 1 | Loss | - |
REG1B | p.S108F | Missense | SNP | 0.410 | 2 | - | - |
REG4 | p.A16S | Missense | SNP | 0.474 | 2 | - | - |
RELCH | - | - | - | - | 1 | Loss | - |
RELN | p.W1654* | Nonsense | SNP | 0.500 | 2 | - | - |
REPIN1 | p.S430Pfs*? | Frame_Shift_Del | DEL | 0.512 | 2 | - | - |
RETREG1 | - | - | - | - | 4 | Gain | - |
REXO1 | p.P476L | Missense | SNP | 0.547 | 2 | - | - |
REXO2 | - | - | - | - | 1 | Loss | - |
RFC1 | p.E1097K | Missense | SNP | 0.512 | 2 | - | - |
RFC3 | - | - | - | - | 3 | Gain | - |
RFT1 | - | - | - | - | 1 | Loss | - |
RFTN1 | - | - | - | - | 1 | Loss | - |
RFX3 | p.I376V p.Q303* | Missense Nonsense | SNP SNP | 0.989 0.977 | 1 | Loss | - |
RFX6 | p.S381F | Missense | SNP | 0.498 | 2 | - | - |
RFXAP | - | - | - | - | 3 | Gain | - |
RGCC | - | - | - | - | 3 | Gain | - |
RGP1 | - | - | - | - | 1 | Loss | - |
RGS12 | p.A581Qfs*15 p.Q1292Rfs*49 p.K1176E | Frame_Shift_Del Frame_Shift_Del Missense | DEL DEL SNP | 0.131 0.585 0.534 | 2 | - | - |
RGS16 | p.E138K | Missense | SNP | 0.532 | 2 | - | - |
RGS20 | - | - | - | - | 3 | Gain | - |
RGS22 | - | - | - | - | 3 | Gain | - |
RGS7 | p.R416Q p.T209A | Missense Missense | SNP SNP | 0.519 0.487 | 2 | - | - |
RGSL1 | p.E309K p.L948F | Missense Missense | SNP SNP | 0.353 0.471 | 2 | - | - |
RHBDL3 | p.L78F | Missense | SNP | 0.535 | 2 | - | - |
RHOA | - | - | - | - | 1 | Loss | - |
RHOBTB1 | p.I56M | Missense | SNP | 0.435 | 2 | - | - |
RHOBTB2 | - | - | - | - | 1 | Loss | - |
RHOH | p.K17Efs*47 | Frame_Shift_Ins | INS | 0.326 | 2 | - | - |
RHPN1 | - | - | - | - | 3 | Gain | - |
RIC1 | - | - | - | - | 1 | Loss | - |
RICTOR | - | - | - | - | 4 | Gain | - |
RIDA | - | - | - | - | 3 | Gain | - |
RIMS1 | p.E844K | Missense | SNP | 0.451 | 2 | - | - |
RIMS2 | - | - | - | - | 3 | Gain | - |
RIN3 | p.T35I | Missense | SNP | 0.429 | 2 | - | - |
RIPK2 | - | - | - | - | 3 | Gain | - |
RLN1 | - | - | - | - | 1 | Loss | - |
RLN2 | - | - | - | - | 1 | Loss | - |
RMDN1 | - | - | - | - | 3 | Gain | - |
RMDN3 | p.T386Lfs*22 | Frame_Shift_Del | DEL | 0.277 | 2 | - | - |
RN7SL1 | - | - | - | - | ND | ND | RN7SL1--HSPG2 |
RNASEH1 | p.S284L | Missense | SNP | 0.505 | 2 | - | - |
RNASEH2B | - | - | - | - | 3 | Gain | - |
RNF113A | p.Y244C | Missense | SNP | 1.000 | ND | ND | - |
RNF113B | - | - | - | - | 3 | Gain | - |
RNF122 | - | - | - | - | 1 | Loss | - |
RNF123 | - | - | - | - | 1 | Loss | - |
RNF139 | - | - | - | - | 3 | Gain | - |
RNF152 | - | - | - | - | 1 | Loss | - |
RNF17 | - | - | - | - | 3 | Gain | - |
RNF170 | - | - | - | - | 1 | Loss | - |
RNF19A | - | - | - | - | 3 | Gain | - |
RNF214 | - | - | - | - | 1 | Loss | - |
RNF219 | - | - | - | - | 3 | Gain | - |
RNF26 | - | - | - | - | 1 | Loss | - |
RNF38 | - | - | - | - | 1 | Loss | - |
RNF6 | - | - | - | - | 3 | Gain | - |
RNGTT | p.R330C | Missense | SNP | 0.443 | 2 | - | - |
ROBO1 | - | - | - | - | 1 | Loss | - |
ROBO2 | - | - | - | - | 1 | Loss | - |
ROBO3 | - | - | - | - | 1 | Loss | - |
ROBO4 | - | - | - | - | 1 | Loss | - |
ROCK1 | p.Y141Mfs*12 | Frame_Shift_Del | DEL | 0.366 | 2 | - | - |
ROPN1L | - | - | - | - | 4 | Gain | - |
RP1 | p.L76Sfs*5 p.D611N | Frame_Shift_Del Missense | DEL SNP | 0.557 0.595 | 3 | Gain | - |
RP11-766F14.2 | p.R1333* | Nonsense | SNP | 0.440 | ND | ND | - |
RP11-80H18.3 | p.M34V | Missense | SNP | 1.000 | ND | ND | - |
RP1L1 | - | - | - | - | 1 | Loss | - |
RPAP3 | p.E122K | Missense | SNP | 0.507 | 2 | - | - |
RPL14 | - | - | - | - | 1 | Loss | - |
RPL15 | - | - | - | - | 1 | Loss | - |
RPL21 | - | - | - | - | 3 | Gain | - |
RPL30 | - | - | - | - | 3 | Gain | - |
RPL32 | - | - | - | - | 1 | Loss | - |
RPL37 | - | - | - | - | 4 | Gain | - |
RPL7 | - | - | - | - | 3 | Gain | - |
RPL8 | - | - | - | - | 3 | Gain | - |
RPP14 | - | - | - | - | 1 | Loss | - |
RPP25L | - | - | - | - | 1 | Loss | - |
RPP38 | - | - | - | - | 3 | Gain | - |
RPPH1 | - | - | - | - | ND | ND | RPPH1--SNORA73A RPPH1--SNHG3 |
RPS2 | p.V128A | Missense | SNP | 0.543 | 2 | - | - |
RPS20 | - | - | - | - | 3 | Gain | - |
RPS25 | - | - | - | - | 1 | Loss | - |
RPS6 | - | - | - | - | 1 | Loss | - |
RPS6KA6 | p.S19G | Missense | SNP | 0.992 | ND | ND | - |
RPSA | - | - | - | - | 1 | Loss | - |
RPUSD3 | - | - | - | - | 1 | Loss | - |
RPUSD4 | - | - | - | - | 1 | Loss | - |
RRAGA | - | - | - | - | 1 | Loss | - |
RREB1 | p.E1502Rfs*81 | Frame_Shift_Del | DEL | 0.436 | 2 | - | - |
RRH | p.G109R | Missense | SNP | 0.302 | 3 | Gain | - |
RRM1 | p.L645F | Missense | SNP | 0.440 | 2 | - | - |
RRM2B | - | - | - | - | 3 | Gain | - |
RRP12 | p.P523S | Missense | SNP | 0.508 | 2 | - | - |
RRP9 | - | - | - | - | 1 | Loss | - |
RRS1 | - | - | - | - | 3 | Gain | - |
RSPO1 | p.E231K | Missense | SNP | 0.496 | 2 | - | - |
RSPO2 | - | - | - | - | 3 | Gain | - |
RSU1 | - | - | - | - | 3 | Gain | - |
RTN1 | p.M10I | Missense | SNP | 0.511 | 2 | - | - |
RTN2 | p.R79M | Missense | SNP | 0.470 | 2 | - | - |
RTP3 | - | - | - | - | 1 | Loss | - |
RUBCNL | - | - | - | - | 3 | Gain | - |
RUNX1T1 | - | - | - | - | 3 | Gain | - |
RUSC2 | - | - | - | - | 1 | Loss | - |
RXFP2 | - | - | - | - | 3 | Gain | - |
RXFP3 | - | - | - | - | 4 | Gain | - |
RYBP | - | - | - | - | 1 | Loss | - |
RYR1 | p.G700S | Missense | SNP | 0.493 | 2 | - | - |
RYR3 | p.G255E | Missense | SNP | 0.495 | 2 | - | - |
SACM1L | - | - | - | - | 1 | Loss | - |
SACS | p.I1110Lfs*16 | Frame_Shift_Del | DEL | 0.304 | 3 | Gain | - |
SALL3 | p.R1148W p.P1239S | Missense Missense | SNP SNP | 0.544 0.502 | 2 | - | - |
SAMD12 | - | - | - | - | 3 | Gain | - |
SAMD14 | p.Y371H | Missense | SNP | 0.437 | 2 | - | - |
SAMD9 | p.A364V | Missense | SNP | 0.540 | 2 | - | - |
SAP18 | - | - | - | - | 3 | Gain | - |
SARAF | - | - | - | - | 1 | Loss | - |
SARDH | p.G809R | Missense | SNP | 0.994 | 2 | - | - |
SATB1 | - | - | - | - | 1 | Loss | - |
SAXO1 | - | - | - | - | 1 | Loss | - |
SBK2 | p.A299V | Missense | SNP | 0.478 | 2 | - | - |
SBSPON | - | - | - | - | 3 | Gain | - |
SC5D | - | - | - | - | 1 | Loss | - |
SCAP | - | - | - | - | 1 | Loss | - |
SCARA3 | - | - | - | - | 1 | Loss | - |
SCARA5 | - | - | - | - | 1 | Loss | - |
SCARB1 | p.P304L | Missense | SNP | 0.535 | 2 | - | - |
SCEL | - | - | - | - | 3 | Gain | - |
SCGB3A1 | p.G83Vfs*8 | Frame_Shift_Del | DEL | 0.150 | 2 | - | - |
SCN10A | - | - | - | - | 1 | Loss | - |
SCN11A | - | - | - | - | 1 | Loss | - |
SCN2B | - | - | - | - | 1 | Loss | - |
SCN3B | - | - | - | - | 1 | Loss | - |
SCN4A | p.N333S | Missense | SNP | 0.476 | 2 | - | - |
SCN4B | - | - | - | - | 1 | Loss | - |
SCN5A | - | - | - | - | 1 | Loss | - |
SCN9A | p.P839L | Missense | SNP | 0.492 | 2 | - | - |
SCP2 | p.G320R | Missense | SNP | 0.398 | 2 | - | - |
SCRIB | - | - | - | - | 3 | Gain | - |
SCRT1 | - | - | - | - | 3 | Gain | - |
SCUBE2 | p.V625I | Missense | SNP | 0.504 | 2 | - | - |
SCUBE3 | p.T274M | Missense | SNP | 0.099 | 2 | - | - |
SDAD1 | p.K275Rfs*15 | Frame_Shift_Del | DEL | 0.059 | 2 | - | - |
SDC2 | - | - | - | - | 3 | Gain | - |
SDC3 | p.P308L | Missense | SNP | 0.476 | 2 | - | - |
SDCBP | - | - | - | - | 3 | Gain | - |
SDF4 | p.G27R | Missense | SNP | 0.526 | 2 | - | - |
SDHA | - | - | - | - | 3 | Gain | - |
SDHD | - | - | - | - | 1 | Loss | - |
SDK1 | p.S731I p.E1324K p.A1827V | Missense Missense Missense | SNP SNP SNP | 0.355 0.433 0.059 | 2 | - | - |
SDK2 | p.R2017Gfs*28 p.V1510Afs*36 p.D1888N | Frame_Shift_Del Frame_Shift_Del Missense | DEL DEL SNP | 0.518 0.341 0.410 | 2 | - | - |
SDPR | p.R82* | Nonsense | SNP | 0.476 | ND | ND | - |
SDR16C5 | - | - | - | - | 3 | Gain | - |
SEC11C | - | - | - | - | 1 | Loss | - |
SEC13 | - | - | - | - | 1 | Loss | - |
SEC16B | p.S434Vfs*29 | Frame_Shift_Del | DEL | 0.269 | 2 | - | - |
SEC22C | - | - | - | - | 1 | Loss | - |
SEC24B | p.G916E | Missense | SNP | 0.491 | 2 | - | - |
SEC24C | p.T342Yfs*39 | Frame_Shift_Ins | INS | 0.297 | 2 | - | - |
SEC61A2 | - | - | - | - | 3 | Gain | - |
SEC61B | p.M55Cfs*22 | Frame_Shift_Del | DEL | 0.408 | 2 | - | - |
SELENOK | - | - | - | - | 1 | Loss | - |
SELENOP | - | - | - | - | 4 | Gain | - |
SEMA3B | - | - | - | - | 1 | Loss | - |
SEMA3E | p.L314Cfs*11 | Frame_Shift_Del | DEL | 0.448 | 2 | - | - |
SEMA3F | - | - | - | - | 1 | Loss | - |
SEMA3G | - | - | - | - | 1 | Loss | - |
SEMA5A | - | - | - | - | 4 | Gain | - |
SEMA5B | p.P1142S | Missense | SNP | 0.621 | 2 | - | - |
SEPHS1 | - | - | - | - | 3 | Gain | - |
SEPT10 | - | - | - | - | 3 | Gain | - |
SEPT14 | p.E230G | Missense | SNP | 0.538 | 2 | - | - |
SERF1A | - | - | - | - | 1 | Loss | - |
SERF1B | - | - | - | - | 1 | Loss | - |
SERP2 | - | - | - | - | 3 | Gain | - |
SERPINA10 | p.K216Q | Missense | SNP | 0.511 | 2 | - | - |
SERPINA2 | p.V232E | Missense | SNP | 0.397 | ND | ND | - |
SERPINB10 | - | - | - | - | 1 | Loss | - |
SERPINB11 | - | - | - | - | 1 | Loss | - |
SERPINB12 | - | - | - | - | 1 | Loss | - |
SERPINB13 | - | - | - | - | 1 | Loss | - |
SERPINB2 | - | - | - | - | 1 | Loss | - |
SERPINB3 | - | - | - | - | 1 | Loss | - |
SERPINB4 | - | - | - | - | 1 | Loss | - |
SERPINB5 | - | - | - | - | 1 | Loss | - |
SERPINB7 | - | - | - | - | 1 | Loss | - |
SERPINB8 | - | - | - | - | 1 | Loss | - |
SERPINE3 | - | - | - | - | 3 | Gain | - |
SERTAD2 | p.R8W | Missense | SNP | 0.472 | 2 | - | - |
SERTM1 | - | - | - | - | 3 | Gain | - |
SESTD1 | p.K186N | Missense | SNP | 0.490 | 2 | - | - |
SETBP1 | p.P981S | Missense | SNP | 0.528 | 2 | - | - |
SETD2 | - | - | - | - | 1 | Loss | - |
SETD5 | - | - | - | - | 1 | Loss | - |
SETDB2 | - | - | - | - | 3 | Gain | - |
SETX | p.R745C | Missense | SNP | 1.000 | 2 | - | - |
SF3A1 | p.S445F | Missense | SNP | 0.208 | 2 | - | - |
SF3B1 | p.R238C | Missense | SNP | 0.496 | 2 | - | - |
SFMBT1 | p.P106L | Missense | SNP | 0.964 | 1 | Loss | - |
SFMBT2 | - | - | - | - | 3 | Gain | - |
SFRP1 | - | - | - | - | 1 | Loss | - |
SFSWAP | p.P452Rfs*8 | Frame_Shift_Del | DEL | 0.131 | 2 | - | - |
SFTPC | - | - | - | - | 1 | Loss | - |
SFXN2 | p.H26Q | Missense | SNP | 0.365 | 2 | - | - |
SFXN3 | p.L285Cfs*14 | Frame_Shift_Del | DEL | 0.131 | 2 | - | - |
SGCG | - | - | - | - | 3 | Gain | - |
SGCZ | - | - | - | - | 1 | Loss | - |
SGK223 | p.G1140R | Missense | SNP | 0.974 | ND | ND | - |
SGK3 | - | - | - | - | 3 | Gain | - |
SGO1 | - | - | - | - | 1 | Loss | - |
SGO2 | p.F648Sfs*14 | Frame_Shift_Del | DEL | 0.378 | 2 | - | - |
SGSM1 | p.G714R | Missense | SNP | 0.379 | 2 | - | - |
SH2D4A | - | - | - | - | 1 | Loss | - |
SH3BP5 | - | - | - | - | 1 | Loss | - |
SH3GL2 | - | - | - | - | 1 | Loss | - |
SH3RF3 | - | - | - | - | 3 | Gain | - |
SH3TC2 | p.V568M | Missense | SNP | 0.436 | 2 | - | - |
SHANK1 | p.P1511S p.E1465K | Missense Missense | SNP SNP | 0.505 0.403 | 2 | - | - |
SHARPIN | - | - | - | - | 3 | Gain | - |
SHB | - | - | - | - | 1 | Loss | - |
SHC3 | p.G411K | Missense | MNP | 0.530 | 2 | - | - |
SHISA2 | - | - | - | - | 3 | Gain | - |
SHISA5 | - | - | - | - | 1 | Loss | - |
SHISA8 | p.G134Rfs*234 | Frame_Shift_Ins | INS | 0.144 | 2 | - | - |
SHISA9 | p.E56K | Missense | SNP | 0.520 | 2 | - | - |
SHQ1 | - | - | - | - | 1 | Loss | - |
SIAE | - | - | - | - | 1 | Loss | - |
SIAH3 | p.R119P | Missense | SNP | 0.246 | 3 | Gain | - |
SIDT2 | - | - | - | - | 1 | Loss | - |
SIGIRR | p.L273P | Missense | SNP | 0.355 | 2 | - | - |
SIGLEC12 | p.W199C p.N131S | Missense Missense | SNP SNP | 0.533 0.531 | 2 | - | - |
SIGMAR1 | - | - | - | - | 1 | Loss | - |
SIK1B | - | - | - | - | 1 | Loss | - |
SIK2 | - | - | - | - | 1 | Loss | - |
SIK3 | - | - | - | - | 1 | Loss | - |
SIPA1 | p.A587T | Missense | SNP | 0.475 | 2 | - | - |
SIT1 | - | - | - | - | 1 | Loss | - |
SIX1 | p.S284F | Missense | SNP | 0.588 | 2 | - | - |
SKA3 | - | - | - | - | 3 | Gain | - |
SKOR1 | p.S147G | Missense | SNP | 0.479 | 2 | - | - |
SKP2 | - | - | - | - | 4 | Gain | - |
SLA | - | - | - | - | 3 | Gain | - |
SLAIN1 | - | - | - | - | 3 | Gain | - |
SLC10A2 | - | - | - | - | 3 | Gain | - |
SLC10A5 | - | - | - | - | 3 | Gain | - |
SLC12A7 | - | - | - | - | 4 | Gain | - |
SLC13A5 | p.S430F | Missense | SNP | 0.519 | 2 | - | - |
SLC15A1 | - | - | - | - | 3 | Gain | - |
SLC16A12 | p.F73Lfs*22 | Frame_Shift_Del | DEL | 0.268 | 2 | - | - |
SLC17A8 | p.G521R | Missense | SNP | 0.447 | 2 | - | - |
SLC18A1 | - | - | - | - | 1 | Loss | - |
SLC18A2 | p.W451R | Missense | SNP | 0.497 | 2 | - | - |
SLC1A1 | - | - | - | - | 1 | Loss | - |
SLC1A3 | - | - | - | - | 4 | Gain | - |
SLC20A1 | p.D409G | Missense | SNP | 0.482 | 2 | - | - |
SLC20A2 | - | - | - | - | 1 | Loss | - |
SLC22A13 | - | - | - | - | 1 | Loss | - |
SLC22A14 | - | - | - | - | 1 | Loss | - |
SLC22A15 | p.S500L | Missense | SNP | 0.448 | 2 | - | - |
SLC22A9 | p.G103R | Missense | SNP | 0.511 | 2 | - | - |
SLC24A1 | p.P112S | Missense | SNP | 0.564 | 2 | - | - |
SLC24A2 | - | - | - | - | 1 | Loss | - |
SLC24A4 | p.E296K | Missense | SNP | 0.477 | 2 | - | - |
SLC25A15 | - | - | - | - | 3 | Gain | - |
SLC25A20 | - | - | - | - | 1 | Loss | - |
SLC25A24 | p.D176Y | Missense | SNP | 0.369 | 2 | - | - |
SLC25A26 | - | - | - | - | 1 | Loss | - |
SLC25A30 | - | - | - | - | 3 | Gain | - |
SLC25A32 | p.R22Q | Missense | SNP | 0.657 | 3 | Gain | - |
SLC25A37 | - | - | - | - | 1 | Loss | - |
SLC25A38 | - | - | - | - | 1 | Loss | - |
SLC25A39 | p.C334R | Missense | SNP | 0.451 | 2 | - | - |
SLC25A51 | - | - | - | - | 1 | Loss | - |
SLC26A2 | p.V162M | Missense | SNP | 0.500 | 2 | - | - |
SLC26A6 | - | - | - | - | 1 | Loss | - |
SLC26A7 | - | - | - | - | 3 | Gain | - |
SLC2A11 | p.G163R | Missense | SNP | 0.368 | 2 | - | - |
SLC2A2 | p.E282Kfs*10 p.Y325C | Frame_Shift_Del Missense | DEL SNP | 0.465 0.544 | 2 | - | - |
SLC30A8 | - | - | - | - | 3 | Gain | - |
SLC35F2 | - | - | - | - | 1 | Loss | - |
SLC35G5 | - | - | - | - | 1 | Loss | - |
SLC37A2 | - | - | - | - | 1 | Loss | - |
SLC37A4 | - | - | - | - | 1 | Loss | - |
SLC38A3 | - | - | - | - | 1 | Loss | - |
SLC39A10 | p.Y62Ifs*4 | Frame_Shift_Ins | INS | 0.312 | 2 | - | - |
SLC39A12 | - | - | - | - | 3 | Gain | - |
SLC39A14 | - | - | - | - | 1 | Loss | - |
SLC39A4 | - | - | - | - | 3 | Gain | - |
SLC44A3 | p.L62F | Missense | SNP | 0.397 | 2 | - | - |
SLC44A4 | p.F618Sfs*25 | Frame_Shift_Del | DEL | 0.584 | 2 | - | - |
SLC45A2 | - | - | - | - | 4 | Gain | - |
SLC45A4 | p.Y586C | Missense | SNP | 0.645 | 3 | Gain | - |
SLC46A3 | - | - | - | - | 3 | Gain | - |
SLC4A10 | p.I542M p.L557F | Missense Missense | SNP SNP | 0.492 0.460 | 2 | - | - |
SLC4A3 | p.G706D | Missense | SNP | 0.114 | 2 | - | - |
SLC4A7 | - | - | - | - | 1 | Loss | - |
SLC52A2 | - | - | - | - | 3 | Gain | - |
SLC5A7 | p.D469N | Missense | SNP | 0.510 | 2 | - | - |
SLC6A1 | - | - | - | - | 1 | Loss | - |
SLC6A11 | - | - | - | - | 1 | Loss | - |
SLC6A16 | p.T85A | Missense | SNP | 0.451 | 2 | - | - |
SLC6A18 | - | - | - | - | 4 | Gain | - |
SLC6A19 | - | - | - | - | 4 | Gain | - |
SLC6A20 | - | - | - | - | 1 | Loss | - |
SLC6A3 | p.E36K | Missense | SNP | 0.215 | 4 | Gain | - |
SLC6A6 | - | - | - | - | 1 | Loss | - |
SLC7A1 | - | - | - | - | 3 | Gain | - |
SLC7A13 | - | - | - | - | 3 | Gain | - |
SLC7A14 | p.P113S p.L27I | Missense Missense | SNP SNP | 0.402 0.467 | 2 | - | - |
SLC7A2 | - | - | - | - | 1 | Loss | - |
SLC9A3 | - | - | - | - | 3 | Gain | - |
SLC9C1 | p.M95I | Missense | SNP | 0.480 | 2 | - | - |
SLCO3A1 | p.E667K | Missense | SNP | 0.415 | 2 | - | - |
SLCO5A1 | p.Y222Tfs*6 p.E460Q | Frame_Shift_Del Missense | DEL SNP | 0.632 0.680 | 3 | Gain | - |
SLFN12 | p.S227F | Missense | SNP | 0.500 | 2 | - | - |
SLIT2 | p.G909S | Missense | SNP | 0.630 | 2 | - | - |
SLIT3 | p.K561N p.Q144H | Missense Missense | SNP SNP | 0.419 0.406 | 2 | - | - |
SLITRK1 | - | - | - | - | 3 | Gain | - |
SLITRK2 | p.S663Kfs*13 | Frame_Shift_Ins | INS | 0.468 | ND | ND | - |
SLITRK3 | p.S528F p.G65E | Missense Missense | SNP SNP | 0.388 0.618 | 2 | - | - |
SLITRK5 | p.S346F p.G441R p.S701N | Missense Missense Missense | SNP SNP SNP | 0.335 0.581 0.116 | 3 | Gain | - |
SLITRK6 | - | - | - | - | 3 | Gain | - |
SLMAP | - | - | - | - | 1 | Loss | - |
SLN | - | - | - | - | 1 | Loss | - |
SLURP1 | - | - | - | - | 3 | Gain | - |
SLURP2 | - | - | - | - | 3 | Gain | - |
SMAD9 | p.A247S | Missense | SNP | 0.333 | 3 | Gain | - |
SMARCA2 | - | - | - | - | 1 | Loss | - |
SMARCA4 | p.K546del | In_Frame_Del | DEL | 0.142 | 2 | - | - |
SMARCC1 | - | - | - | - | 1 | Loss | - |
SMC1B | p.N191Ifs*2 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
SMG1 | p.F3008Lfs*10 p.G2889C | Frame_Shift_Del Missense | DEL SNP | 0.540 0.464 | 2 | - | - |
SMG7 | p.M803* p.G647R | Frame_Shift_Del Missense | DEL SNP | 0.133 0.505 | 2 | - | - |
SMIM11B | - | - | - | - | 1 | Loss | - |
SMIM18 | - | - | - | - | 1 | Loss | - |
SMIM19 | - | - | - | - | 1 | Loss | - |
SMIM2 | - | - | - | - | 3 | Gain | - |
SMIM27 | - | - | - | - | 1 | Loss | - |
SMIM34B | - | - | - | - | 1 | Loss | - |
SMIM4 | - | - | - | - | 1 | Loss | - |
SMN1 | - | - | - | - | 1 | Loss | - |
SMN2 | - | - | - | - | 1 | Loss | - |
SMO | p.P705S | Missense | SNP | 0.410 | 2 | - | - |
SMOX | p.P236L | Missense | SNP | 0.516 | 2 | - | - |
SMPD3 | p.R164W | Missense | SNP | 0.508 | 2 | - | - |
SMPD4 | - | - | - | - | 1 | Loss | - |
SMU1 | - | - | - | - | 1 | Loss | - |
SMYD3 | p.Q388Kfs*3 p.S289F | Frame_Shift_Del Missense | DEL SNP | 0.517 0.524 | 2 | - | - |
SNAI2 | - | - | - | - | 3 | Gain | - |
SNAPC3 | - | - | - | - | 1 | Loss | - |
SNED1 | p.P1222Rfs*35 | Frame_Shift_Del | DEL | 0.154 | 2 | - | - |
SNHG3 | - | - | - | - | ND | ND | AL355075.4--SNHG3 RPPH1--SNHG3 |
SNORA52 | - | - | - | - | ND | ND | HIST1H2BO--SNORA52 |
SNORA73A | - | - | - | - | ND | ND | AL355075.4--SNORA73A RPPH1--SNORA73A |
SNRK | - | - | - | - | 1 | Loss | - |
SNTB1 | p.W212* | Nonsense | SNP | 0.319 | 3 | Gain | - |
SNTG1 | p.R354Q | Missense | SNP | 0.351 | 3 | Gain | - |
SNTN | - | - | - | - | 1 | Loss | - |
SNX16 | - | - | - | - | 3 | Gain | - |
SNX17 | p.R302C | Missense | SNP | 0.531 | 2 | - | - |
SNX19 | - | - | - | - | 1 | Loss | - |
SNX31 | - | - | - | - | 3 | Gain | - |
SOAT1 | p.R350W | Missense | SNP | 0.458 | 2 | - | - |
SOCS7 | p.P334S | Missense | SNP | 0.493 | 2 | - | - |
SOD3 | p.A95T | Missense | SNP | 0.534 | 2 | - | - |
SOGA3 | p.V946Cfs*28 | Frame_Shift_Ins | INS | 0.352 | 2 | - | - |
SOHLH2 | - | - | - | - | 3 | Gain | - |
SORBS3 | - | - | - | - | 1 | Loss | - |
SORCS1 | p.P315Q p.A113V | Missense Missense | SNP SNP | 0.448 0.513 | 2 | - | - |
SORCS2 | p.F241Y | Missense | SNP | 0.445 | 2 | - | - |
SORCS3 | p.G943R | Missense | SNP | 0.528 | 2 | - | - |
SORL1 | p.V2209I | Missense | SNP | 1.000 | 1 | Loss | - |
SOWAHA | p.P148Rfs*23 | Frame_Shift_Del | DEL | 0.543 | 2 | - | - |
SOWAHB | p.E114Sfs*133 | Frame_Shift_Del | DEL | 0.324 | 2 | - | - |
SOX1 | - | - | - | - | 3 | Gain | - |
SOX11 | p.E36K | Missense | SNP | 0.483 | 2 | - | - |
SOX17 | - | - | - | - | 3 | Gain | - |
SOX21 | - | - | - | - | 3 | Gain | - |
SOX4 | p.S394T | Missense | SNP | 0.493 | 2 | - | - |
SOX6 | p.G777K | Missense | MNP | 0.366 | 2 | - | - |
SOX7 | - | - | - | - | 1 | Loss | - |
SP140 | p.P292L | Missense | SNP | 0.491 | 2 | - | - |
SPA17 | - | - | - | - | 1 | Loss | - |
SPAAR | - | - | - | - | 1 | Loss | - |
SPACA7 | - | - | - | - | 3 | Gain | - |
SPAG1 | - | - | - | - | 3 | Gain | - |
SPAG11A | - | - | - | - | 1 | Loss | - |
SPAG11B | p.F94S | Missense | SNP | 0.543 | 1 | Loss | - |
SPAG16 | p.X93_splice p.G311D | Splice_Site Missense | SNP SNP | 0.398 0.333 | 2 | - | - |
SPAG8 | - | - | - | - | 1 | Loss | - |
SPART | - | - | - | - | 3 | Gain | - |
SPATA12 | - | - | - | - | 1 | Loss | - |
SPATA13 | - | - | - | - | 3 | Gain | - |
SPATA18 | p.E146K | Missense | SNP | 0.353 | 2 | - | - |
SPATA19 | - | - | - | - | 1 | Loss | - |
SPATA31A1 | - | - | - | - | 1 | Loss | - |
SPATA31A3 | - | - | - | - | 1 | Loss | - |
SPATA31A7 | - | - | - | - | 1 | Loss | - |
SPATA31D1 | p.G332D p.M1249I | Missense Missense | SNP SNP | 0.102 0.552 | 2 | - | - |
SPATA31E1 | p.P1043L p.G1280S | Missense Missense | SNP SNP | 0.444 0.464 | 2 | - | - |
SPATA6L | - | - | - | - | 1 | Loss | - |
SPATC1 | - | - | - | - | 3 | Gain | - |
SPCS1 | - | - | - | - | 1 | Loss | - |
SPDEF | p.E188K | Missense | SNP | 0.490 | 2 | - | - |
SPDYC | p.G193W | Missense | SNP | 0.466 | 2 | - | - |
SPDYE2B | - | - | - | - | 1 | Loss | - |
SPEF2 | p.S988L | Missense | SNP | 0.725 | 4 | Gain | - |
SPEG | p.G2057C | Missense | SNP | 0.419 | 2 | - | - |
SPERT | - | - | - | - | 3 | Gain | - |
SPIDR | - | - | - | - | 3 | Gain | - |
SPINK4 | - | - | - | - | 1 | Loss | - |
SPINK8 | - | - | - | - | 1 | Loss | - |
SPOCD1 | p.R71W | Missense | SNP | 0.485 | 2 | - | - |
SPRY2 | - | - | - | - | 3 | Gain | - |
SPRYD7 | - | - | - | - | 3 | Gain | - |
SPSB3 | p.H89N | Missense | SNP | 0.616 | 2 | - | - |
SPTA1 | p.E1707K p.G1243E | Missense Missense | SNP SNP | 0.462 0.500 | 2 | - | - |
SPTB | p.W63* | Nonsense | SNP | 0.441 | 2 | - | - |
SPTBN2 | p.Q263* | Nonsense | SNP | 0.508 | 2 | - | - |
SQLE | - | - | - | - | 3 | Gain | - |
SRBD1 | p.H829Y | Missense | SNP | 0.412 | 2 | - | - |
SRC | p.G29K p.P171S | Missense Missense | MNP SNP | 0.456 0.477 | 2 | - | - |
SRCAP | p.R945* | Nonsense | SNP | 0.484 | 2 | - | - |
SRCIN1 | p.A358D | Missense | SNP | 0.603 | 2 | - | - |
SRD5A1 | - | - | - | - | 4 | Gain | - |
SRGAP3 | - | - | - | - | 1 | Loss | - |
SRP72 | p.V9Cfs*10 | Frame_Shift_Del | DEL | 0.460 | 2 | - | - |
SRPRA | - | - | - | - | 1 | Loss | - |
SRRM1 | p.K37Rfs*4 | Frame_Shift_Del | DEL | 0.554 | 2 | - | - |
SS18L2 | - | - | - | - | 1 | Loss | - |
SSMEM1 | p.M101I | Missense | SNP | 0.417 | 2 | - | - |
SSNA1 | p.E37del | In_Frame_Del | DEL | 0.195 | 2 | - | - |
SSPO | p.G4008Afs*21 p.H3147Y | Frame_Shift_Del Missense | DEL SNP | 0.304 0.471 | 2 | - | - |
SSUH2 | - | - | - | - | 1 | Loss | - |
SSX1 | p.L104H | Missense | SNP | 1.000 | ND | ND | - |
ST14 | - | - | - | - | 1 | Loss | - |
ST18 | p.T583S | Missense | SNP | 0.256 | 3 | Gain | - |
ST3GAL1 | - | - | - | - | 3 | Gain | - |
ST3GAL4 | - | - | - | - | 1 | Loss | - |
ST8SIA6 | - | - | - | - | 3 | Gain | - |
STAB1 | - | - | - | - | 1 | Loss | - |
STAC | - | - | - | - | 1 | Loss | - |
STAC3 | p.E75_E76del | In_Frame_Del | DEL | 0.384 | 2 | - | - |
STAM | - | - | - | - | 3 | Gain | - |
STAMBPL1 | p.K405Rfs*21 | Frame_Shift_Del | DEL | 0.519 | 2 | - | - |
STAR | - | - | - | - | 1 | Loss | - |
STARD13 | - | - | - | - | 3 | Gain | - |
STATH | p.G31E | Missense | SNP | 0.500 | 2 | - | - |
STAU2 | - | - | - | - | 3 | Gain | - |
STC1 | - | - | - | - | 1 | Loss | - |
STC2 | p.N152S | Missense | SNP | 0.473 | 2 | - | - |
STEAP4 | p.G35R | Missense | SNP | 0.402 | 2 | - | - |
STIL | p.P10S | Missense | SNP | 0.633 | 2 | - | - |
STIMATE | - | - | - | - | 1 | Loss | - |
STK10 | p.S387F | Missense | SNP | 0.420 | 2 | - | - |
STK24 | - | - | - | - | 3 | Gain | - |
STK3 | - | - | - | - | 3 | Gain | - |
STK31 | p.P701L | Missense | SNP | 0.449 | 2 | - | - |
STK32B | p.E226K | Missense | SNP | 0.513 | 2 | - | - |
STK38L | p.W149* | Nonsense | SNP | 0.467 | 2 | - | - |
STMN2 | - | - | - | - | 3 | Gain | - |
STMN4 | - | - | - | - | 1 | Loss | - |
STOM | p.F83Lfs*14 | Frame_Shift_Del | DEL | 0.439 | 2 | - | - |
STOML2 | - | - | - | - | 1 | Loss | - |
STOML3 | - | - | - | - | 3 | Gain | - |
STPG1 | p.T215Pfs*5 | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
STRC | p.L1297Sfs*29 | Frame_Shift_Del | DEL | 0.442 | 2 | - | - |
STRIP2 | p.R696Q | Missense | SNP | 0.587 | 2 | - | - |
STT3A | - | - | - | - | 1 | Loss | - |
STT3B | - | - | - | - | 1 | Loss | - |
SUB1 | - | - | - | - | 4 | Gain | - |
SUCLA2 | p.M61L | Missense | SNP | 0.301 | 3 | Gain | - |
SUCLG2 | - | - | - | - | 1 | Loss | - |
SUGT1 | - | - | - | - | 3 | Gain | - |
SULF1 | - | - | - | - | 3 | Gain | - |
SULF2 | p.E393K | Missense | SNP | 0.483 | 2 | - | - |
SULT4A1 | p.S174F | Missense | SNP | 0.325 | 2 | - | - |
SUMF2 | p.X111_splice | Splice_Site | SNP | 0.465 | 2 | - | - |
SUPT16H | p.Y567N | Missense | SNP | 0.441 | 2 | - | - |
SUPT20H | - | - | - | - | 3 | Gain | - |
SUSD5 | - | - | - | - | 1 | Loss | - |
SUV39H2 | - | - | - | - | 3 | Gain | - |
SVIL | p.A765E | Missense | SNP | 0.092 | 2 | - | - |
SWAP70 | p.E457K | Missense | SNP | 0.574 | 2 | - | - |
SYBU | - | - | - | - | 3 | Gain | - |
SYCE1 | p.G314E | Missense | SNP | 0.481 | 2 | - | - |
SYCP2 | p.S850Afs*5 | Frame_Shift_Del | DEL | 0.105 | 2 | - | - |
SYN1 | p.G160R | Missense | SNP | 0.979 | ND | ND | - |
SYN2 | - | - | - | - | 1 | Loss | - |
SYNC | p.E370K | Missense | SNP | 0.572 | 2 | - | - |
SYNE1 | p.R3253I | Missense | SNP | 0.463 | 2 | - | - |
SYNE2 | p.N1656Mfs*19 p.Q2620* p.Q2881* | Frame_Shift_Del Nonsense Nonsense | DEL SNP SNP | 0.571 0.449 0.498 | 2 | - | - |
SYNJ2 | p.P1113Lfs*5 | Frame_Shift_Del | DEL | 0.551 | 2 | - | - |
SYNPR | - | - | - | - | 1 | Loss | - |
SYNRG | p.P86H | Missense | SNP | 0.500 | 2 | - | - |
SYT1 | p.F154S p.S309F | Missense Missense | SNP SNP | 0.465 0.466 | 2 | - | - |
SYT17 | p.D385N | Missense | SNP | 0.503 | 2 | - | - |
SYT4 | p.E403D | Missense | SNP | 0.357 | 2 | - | - |
SZT2 | p.Q1379* p.W2051* | Nonsense Nonsense | SNP MNP | 0.481 0.497 | 2 | - | - |
TAAR8 | p.T144I | Missense | SNP | 0.437 | 2 | - | - |
TACC1 | - | - | - | - | 1 | Loss | - |
TADA3 | - | - | - | - | 1 | Loss | - |
TAF1L | - | - | - | - | 1 | Loss | - |
TAF2 | - | - | - | - | 3 | Gain | - |
TAF3 | p.R314H | Missense | SNP | 0.340 | 3 | Gain | - |
TAF5 | p.D408Ifs*25 | Frame_Shift_Del | DEL | 0.424 | 2 | - | - |
TAGLN | - | - | - | - | 1 | Loss | - |
TAMM41 | - | - | - | - | 1 | Loss | - |
TAOK1 | p.G909D | Missense | SNP | 0.489 | 2 | - | - |
TAOK2 | p.R285W p.P1022S | Missense Missense | SNP SNP | 0.413 0.429 | 2 | - | - |
TARS | p.X361_splice | Splice_Site | SNP | 0.145 | 4 | Gain | - |
TAS2R1 | - | - | - | - | 4 | Gain | - |
TAS2R38 | p.S74I | Missense | SNP | 0.498 | 2 | - | - |
TAT | p.P81S | Missense | SNP | 0.420 | 2 | - | - |
TATDN1 | - | - | - | - | 3 | Gain | - |
TATDN2 | p.S340F | Missense | SNP | 1.000 | 1 | Loss | - |
TBATA | p.S210R | Missense | SNP | 0.394 | 2 | - | - |
TBC1D14 | p.F543Lfs*9 | Frame_Shift_Del | DEL | 0.476 | 2 | - | - |
TBC1D20 | p.R261H | Missense | SNP | 0.500 | 2 | - | - |
TBC1D21 | p.D333N | Missense | SNP | 0.376 | 2 | - | - |
TBC1D2B | p.E608K | Missense | SNP | 0.516 | 2 | - | - |
TBC1D3 | - | - | - | - | 1 | Loss | - |
TBC1D31 | - | - | - | - | 3 | Gain | - |
TBC1D3C | - | - | - | - | 1 | Loss | - |
TBC1D3D | - | - | - | - | 1 | Loss | - |
TBC1D3E | - | - | - | - | 1 | Loss | - |
TBC1D3K | - | - | - | - | 1 | Loss | - |
TBC1D3L | - | - | - | - | 1 | Loss | - |
TBC1D4 | p.R293W p.E61D | Missense Missense | SNP SNP | 0.370 0.701 | 3 | Gain | - |
TBC1D5 | - | - | - | - | 1 | Loss | - |
TBC1D7 | p.P289L | Missense | MNP | 0.482 | 2 | - | - |
TBC1D9B | p.A959V | Missense | SNP | 0.438 | 2 | - | - |
TBCD | p.G834E | Missense | SNP | 0.420 | 2 | - | - |
TBCEL | - | - | - | - | 1 | Loss | - |
TBCK | p.Y579H | Missense | SNP | 0.527 | 2 | - | - |
TBL1XR1 | p.N126Mfs*16 | Frame_Shift_Del | DEL | 0.518 | 2 | - | - |
TBP | p.P26S | Missense | SNP | 0.402 | 2 | - | - |
TBRG1 | - | - | - | - | 1 | Loss | - |
TBX21 | p.G465E | Missense | SNP | 0.475 | 2 | - | - |
TBX3 | p.G529Afs*103 | Frame_Shift_Del | DEL | 0.480 | 2 | - | - |
TBX4 | p.P371Lfs*8 | Frame_Shift_Del | DEL | 0.405 | 2 | - | - |
TBX6 | p.P275S | Missense | SNP | 0.576 | 2 | - | - |
TCAIM | - | - | - | - | 1 | Loss | - |
TCEA1 | - | - | - | - | 3 | Gain | - |
TCERG1L | p.L256F | Missense | SNP | 0.462 | 2 | - | - |
TCF24 | - | - | - | - | 3 | Gain | - |
TCF7L1 | p.P563L | Missense | SNP | 0.456 | 2 | - | - |
TCF7L2 | p.E29del | In_Frame_Del | DEL | 0.500 | 2 | - | - |
TCIM | - | - | - | - | 1 | Loss | - |
TCP10L | p.G214Vfs*26 | Frame_Shift_Del | DEL | 0.072 | 2 | - | - |
TCP11 | p.Q43Pfs*24 | Frame_Shift_Ins | INS | 0.238 | 2 | - | - |
TCTA | - | - | - | - | 1 | Loss | - |
TDGF1 | - | - | - | - | 1 | Loss | - |
TDRD3 | - | - | - | - | 3 | Gain | - |
TDRP | - | - | - | - | 1 | Loss | - |
TECPR2 | p.P1329L | Missense | SNP | 0.417 | 2 | - | - |
TECTA | p.K904E | Missense | SNP | 0.993 | 1 | Loss | - |
TEK | p.V86Lfs*31 | Frame_Shift_Del | DEL | 0.688 | 1 | Loss | - |
TENM4 | p.L936Wfs*4 | Frame_Shift_Del | DEL | 0.057 | 2 | - | - |
TENT4A | - | - | - | - | 4 | Gain | - |
TEP1 | p.Y821N p.P693S | Missense Missense | SNP SNP | 0.474 0.404 | 2 | - | - |
TERF1 | - | - | - | - | 3 | Gain | - |
TERT | - | - | - | - | 4 | Gain | - |
TESK1 | - | - | - | - | 1 | Loss | - |
TET1 | p.Q1323H p.K1769E | Missense Missense | SNP SNP | 0.451 0.459 | 2 | - | - |
TET3 | p.P133S | Missense | SNP | 0.321 | 2 | - | - |
TEX10 | p.V73I | Missense | SNP | 0.565 | 2 | - | - |
TEX11 | p.W764R | Missense | SNP | 1.000 | ND | ND | - |
TEX12 | - | - | - | - | 1 | Loss | - |
TEX14 | p.V37M | Missense | SNP | 0.309 | 2 | - | - |
TEX15 | p.D1344N | Missense | SNP | 0.994 | 1 | Loss | - |
TEX26 | - | - | - | - | 3 | Gain | - |
TEX264 | - | - | - | - | 1 | Loss | - |
TEX29 | - | - | - | - | 3 | Gain | - |
TEX30 | - | - | - | - | 3 | Gain | - |
TFAP2D | p.H75Y p.P313S | Missense Missense | SNP SNP | 0.499 0.497 | 2 | - | - |
TFDP1 | - | - | - | - | 3 | Gain | - |
TG | p.Q182* p.M673I | Nonsense Missense | SNP SNP | 0.403 0.332 | 3 | Gain | - |
TGDS | - | - | - | - | 3 | Gain | - |
TGFBR2 | - | - | - | - | 1 | Loss | - |
TGIF2LX | p.H131Y | Missense | SNP | 1.000 | ND | ND | - |
TGM4 | - | - | - | - | 1 | Loss | - |
TGS1 | - | - | - | - | 3 | Gain | - |
THAP1 | - | - | - | - | 1 | Loss | - |
THAP5 | p.Q186R | Missense | SNP | 0.415 | 2 | - | - |
THAP9 | p.F341Lfs*2 | Frame_Shift_Del | DEL | 0.466 | 2 | - | - |
THBS4 | p.N610S | Missense | SNP | 0.429 | 2 | - | - |
THEM6 | - | - | - | - | 3 | Gain | - |
THOC7 | - | - | - | - | 1 | Loss | - |
THRAP3 | p.S234A p.P905S | Missense Missense | SNP SNP | 0.504 0.425 | 2 | - | - |
THRB | - | - | - | - | 1 | Loss | - |
THRSP | p.Q50* | Nonsense | SNP | 0.484 | 2 | - | - |
THSD1 | - | - | - | - | 3 | Gain | - |
THUMPD3 | - | - | - | - | 1 | Loss | - |
THY1 | - | - | - | - | 1 | Loss | - |
THYN1 | - | - | - | - | 1 | Loss | - |
TIA1 | p.P187L | Missense | SNP | 0.491 | 2 | - | - |
TICRR | p.C1626Afs*56 | Frame_Shift_Del | DEL | 0.331 | 2 | - | - |
TIGD3 | p.Q115* | Nonsense | SNP | 0.486 | 2 | - | - |
TIGD5 | - | - | - | - | 3 | Gain | - |
TIGD7 | p.R499K | Missense | SNP | 0.486 | 2 | - | - |
TIMM8B | - | - | - | - | 1 | Loss | - |
TIMP4 | - | - | - | - | 1 | Loss | - |
TIRAP | - | - | - | - | 1 | Loss | - |
TK2 | p.S21I | Missense | SNP | 0.541 | 2 | - | - |
TKFC | p.A187T | Missense | SNP | 0.581 | 2 | - | - |
TKT | - | - | - | - | 1 | Loss | - |
TKTL1 | p.I264Hfs*2 | Frame_Shift_Ins | INS | 0.463 | ND | ND | - |
TLL1 | p.R867_V869del | In_Frame_Del | DEL | 0.381 | 2 | - | - |
TLN1 | p.E1421Q | Missense | SNP | 0.688 | 1 | Loss | - |
TLR4 | p.E225K | Missense | SNP | 0.997 | 2 | - | - |
TLR9 | - | - | - | - | 1 | Loss | - |
TM2D2 | - | - | - | - | 1 | Loss | - |
TM9SF2 | - | - | - | - | 3 | Gain | - |
TMA16 | p.V16Sfs*25 | Frame_Shift_Del | DEL | 0.441 | 2 | - | - |
TMA7 | - | - | - | - | 1 | Loss | - |
TMC4 | p.E133K | Missense | SNP | 0.496 | 2 | - | - |
TMCO3 | - | - | - | - | 3 | Gain | - |
TMEM110-MUSTN1 | - | - | - | - | 1 | Loss | - |
TMEM115 | - | - | - | - | 1 | Loss | - |
TMEM132E | p.I378S | Missense | SNP | 0.430 | 2 | - | - |
TMEM136 | - | - | - | - | 1 | Loss | - |
TMEM139 | p.Y209Mfs*10 | Frame_Shift_Del | DEL | 0.484 | 2 | - | - |
TMEM143 | p.G261S | Missense | SNP | 0.598 | 2 | - | - |
TMEM158 | - | - | - | - | 1 | Loss | - |
TMEM168 | p.S130F | Missense | SNP | 0.406 | 2 | - | - |
TMEM215 | - | - | - | - | 1 | Loss | - |
TMEM218 | - | - | - | - | 1 | Loss | - |
TMEM225 | - | - | - | - | 1 | Loss | - |
TMEM230 | p.A72T | Missense | SNP | 0.088 | 2 | - | - |
TMEM236 | - | - | - | - | 3 | Gain | - |
TMEM249 | - | - | - | - | 3 | Gain | - |
TMEM25 | - | - | - | - | 1 | Loss | - |
TMEM255B | - | - | - | - | 3 | Gain | - |
TMEM259 | p.T199M | Missense | SNP | 1.000 | 2 | - | - |
TMEM267 | - | - | - | - | 4 | Gain | - |
TMEM272 | - | - | - | - | 3 | Gain | - |
TMEM30A | p.Y122S | Missense | SNP | 0.571 | 2 | - | - |
TMEM40 | - | - | - | - | 1 | Loss | - |
TMEM42 | - | - | - | - | 1 | Loss | - |
TMEM43 | - | - | - | - | 1 | Loss | - |
TMEM45B | - | - | - | - | 1 | Loss | - |
TMEM52B | p.A53V | Missense | SNP | 0.132 | 2 | - | - |
TMEM64 | - | - | - | - | 3 | Gain | - |
TMEM65 | - | - | - | - | 3 | Gain | - |
TMEM67 | - | - | - | - | 3 | Gain | - |
TMEM68 | - | - | - | - | 3 | Gain | - |
TMEM70 | - | - | - | - | 3 | Gain | - |
TMEM71 | - | - | - | - | 3 | Gain | - |
TMEM74 | - | - | - | - | 3 | Gain | - |
TMEM80 | p.T110M | Missense | SNP | 0.052 | 2 | - | - |
TMEM89 | - | - | - | - | 1 | Loss | - |
TMEM8B | - | - | - | - | 1 | Loss | - |
TMEM9 | p.L59M | Missense | SNP | 0.378 | 2 | - | - |
TMF1 | - | - | - | - | 1 | Loss | - |
TMIE | - | - | - | - | 1 | Loss | - |
TMPPE | - | - | - | - | 1 | Loss | - |
TMPRSS13 | - | - | - | - | 1 | Loss | - |
TMPRSS4 | - | - | - | - | 1 | Loss | - |
TMPRSS5 | p.A430T | Missense | SNP | 1.000 | 1 | Loss | - |
TMTC3 | p.H67L | Missense | SNP | 0.344 | 2 | - | - |
TMTC4 | - | - | - | - | 3 | Gain | - |
TMUB1 | p.S127F | Missense | SNP | 0.487 | 2 | - | - |
TNC | p.R1309C | Missense | SNP | 1.000 | 2 | - | - |
TNFAIP8L3 | p.G28R | Missense | SNP | 0.493 | 2 | - | - |
TNFRSF10A | - | - | - | - | 1 | Loss | - |
TNFRSF10B | - | - | - | - | 1 | Loss | - |
TNFRSF10C | - | - | - | - | 1 | Loss | - |
TNFRSF10D | - | - | - | - | 1 | Loss | - |
TNFRSF11A | - | - | - | - | 1 | Loss | - |
TNFRSF11B | - | - | - | - | 3 | Gain | - |
TNFRSF19 | - | - | - | - | 3 | Gain | - |
TNFRSF4 | p.S24R | Missense | SNP | 0.333 | 2 | - | - |
TNFSF11 | - | - | - | - | 3 | Gain | - |
TNFSF13B | - | - | - | - | 3 | Gain | - |
TNK2 | p.P711Afs*4 p.Q571Sfs*3 | Frame_Shift_Ins Frame_Shift_Del | INS DEL | 0.255 0.392 | 2 | - | - |
TNKS | - | - | - | - | 1 | Loss | - |
TNNC1 | - | - | - | - | 1 | Loss | - |
TNPO3 | p.Q271Rfs*4 | Frame_Shift_Del | DEL | 0.471 | 2 | - | - |
TNRC6B | p.H1671N | Missense | SNP | 0.518 | 2 | - | - |
TNS3 | p.L693M | Missense | SNP | 0.596 | 2 | - | - |
TNXB | p.G1057E p.G185R | Missense Missense | SNP SNP | 0.604 0.481 | 2 | - | - |
TOMM5 | - | - | - | - | 1 | Loss | - |
TONSL | - | - | - | - | 3 | Gain | - |
TOP1MT | p.P16T | Missense | SNP | 0.207 | 3 | Gain | - |
TOP2A | p.R1435Gfs*13 | Frame_Shift_Del | DEL | 0.089 | 2 | - | - |
TOP2B | - | - | - | - | 1 | Loss | - |
TOPAZ1 | - | - | - | - | 1 | Loss | - |
TOPORS | - | - | - | - | 1 | Loss | - |
TOX | - | - | - | - | 3 | Gain | - |
TP53 | p.Q317R p.P278A p.W91* | Missense Missense Nonsense | SNP SNP SNP | 0.450 0.536 0.492 | 2 | - | - |
TP53AIP1 | - | - | - | - | 1 | Loss | - |
TP53BP1 | p.E716Nfs*12 | Frame_Shift_Del | DEL | 0.480 | 2 | - | - |
TP53BP2 | p.P92Lfs*6 | Frame_Shift_Del | DEL | 0.521 | 2 | - | - |
TP53INP1 | - | - | - | - | 3 | Gain | - |
TP73 | p.S492I | Missense | SNP | 0.448 | 2 | - | - |
TPD52 | - | - | - | - | 3 | Gain | - |
TPD52L3 | - | - | - | - | 1 | Loss | - |
TPM2 | - | - | - | - | 1 | Loss | - |
TPP2 | p.S566F | Missense | SNP | 0.672 | 3 | Gain | - |
TPPP | - | - | - | - | 3 | Gain | - |
TPT1 | - | - | - | - | 3 | Gain | - |
TPTE | - | - | - | - | 1 | Loss | - |
TRAF1 | p.P79L | Missense | SNP | 1.000 | 2 | - | - |
TRAF3IP2 | p.M52Nfs*41 | Frame_Shift_Ins | INS | 0.340 | 2 | - | - |
TRAFD1 | p.D6Y p.Q253K | Missense Missense | SNP SNP | 0.512 0.528 | 2 | - | - |
TRAIP | - | - | - | - | 1 | Loss | - |
TRAK1 | - | - | - | - | 1 | Loss | - |
TRAM1 | - | - | - | - | 3 | Gain | - |
TRANK1 | - | - | - | - | 1 | Loss | - |
TRAPPC10 | p.P1021Lfs*23 | Frame_Shift_Del | DEL | 0.106 | 2 | - | - |
TRAPPC4 | - | - | - | - | 1 | Loss | - |
TRAPPC9 | - | - | - | - | 3 | Gain | - |
TRAV2 | p.E101Gfs*? | Frame_Shift_Ins | INS | 0.347 | ND | ND | - |
TRAV26-1 | p.D18N | Missense | SNP | 0.631 | ND | ND | - |
TRBV5-5 | p.A106V | Missense | SNP | 0.457 | ND | ND | - |
TRDMT1 | - | - | - | - | 3 | Gain | - |
TREH | - | - | - | - | 1 | Loss | - |
TREX1 | - | - | - | - | 1 | Loss | - |
TRGV5 | p.W3R | Missense | SNP | 0.493 | ND | ND | - |
TRHR | - | - | - | - | 3 | Gain | - |
TRIB1 | - | - | - | - | 3 | Gain | - |
TRIL | p.P674S | Missense | SNP | 0.500 | 2 | - | - |
TRIM13 | - | - | - | - | 3 | Gain | - |
TRIM29 | - | - | - | - | 1 | Loss | - |
TRIM35 | - | - | - | - | 1 | Loss | - |
TRIM36 | p.G408E | Missense | SNP | 0.490 | 2 | - | - |
TRIM39 | p.L290F | Missense | SNP | 0.531 | 2 | - | - |
TRIM44 | p.A206Gfs*15 | Frame_Shift_Ins | INS | 0.292 | 2 | - | - |
TRIM5 | p.P323S | Missense | SNP | 0.434 | 2 | - | - |
TRIM55 | - | - | - | - | 3 | Gain | - |
TRIM63 | p.R45L | Missense | SNP | 0.508 | 2 | - | - |
TRIM71 | - | - | - | - | 1 | Loss | - |
TRIML2 | p.V52M | Missense | SNP | 0.500 | 2 | - | - |
TRIO | - | - | - | - | 4 | Gain | - |
TRIOBP | p.D62A | Missense | SNP | 0.432 | 2 | - | - |
TRIP12 | p.G1332S p.X424_splice | Missense Splice_Site | SNP SNP | 0.440 0.516 | 2 | - | - |
TRIP13 | - | - | - | - | 4 | Gain | - |
TRIQK | - | - | - | - | 3 | Gain | - |
TRMT10B | - | - | - | - | 1 | Loss | - |
TRMT10C | p.K139R | Missense | SNP | 0.396 | 2 | - | - |
TRMT12 | - | - | - | - | 3 | Gain | - |
TRMT2A | p.P146L | Missense | SNP | 0.489 | 2 | - | - |
TRMT5 | p.H333Y | Missense | SNP | 0.521 | 2 | - | - |
TRMT9B | - | - | - | - | 1 | Loss | - |
TRO | p.G1128S | Missense | SNP | 1.000 | ND | ND | - |
TRPA1 | - | - | - | - | 3 | Gain | - |
TRPC4 | - | - | - | - | 3 | Gain | - |
TRPC7 | p.Q83* | Nonsense | SNP | 0.106 | 2 | - | - |
TRPM2 | p.A177Pfs*6 | Frame_Shift_Del | DEL | 0.303 | 2 | - | - |
TRPM5 | p.G1093W | Missense | SNP | 0.412 | 2 | - | - |
TRPS1 | - | - | - | - | 3 | Gain | - |
TRPV2 | p.M39I | Missense | SNP | 0.493 | 2 | - | - |
TRPV4 | p.R249H | Missense | SNP | 0.488 | 2 | - | - |
TRRAP | p.R1015W | Missense | SNP | 0.455 | 2 | - | - |
TSC2 | p.A1429V | Missense | SNP | 0.532 | 2 | - | - |
TSC22D1 | - | - | - | - | 3 | Gain | - |
TSEN2 | - | - | - | - | 1 | Loss | - |
TSHZ1 | p.D71G p.W892* | Missense Nonsense | SNP SNP | 0.622 0.539 | 2 | - | - |
TSNARE1 | - | - | - | - | 3 | Gain | - |
TSPYL5 | - | - | - | - | 3 | Gain | - |
TSTA3 | - | - | - | - | 3 | Gain | - |
TTC12 | - | - | - | - | 1 | Loss | - |
TTC21A | - | - | - | - | 1 | Loss | - |
TTC23L | - | - | - | - | 4 | Gain | - |
TTC33 | - | - | - | - | 4 | Gain | - |
TTC36 | - | - | - | - | 1 | Loss | - |
TTC37 | p.Q1468* | Nonsense | SNP | 0.518 | 2 | - | - |
TTC39B | - | - | - | - | 1 | Loss | - |
TTC7B | p.A833V | Missense | SNP | 0.412 | 2 | - | - |
TTI2 | - | - | - | - | 1 | Loss | - |
TTK | p.K857Nfs*36 | Frame_Shift_Del | DEL | 0.537 | 2 | - | - |
TTLL3 | - | - | - | - | 1 | Loss | - |
TTLL4 | p.Q129P p.K688N | Missense Missense | SNP SNP | 0.474 0.507 | 2 | - | - |
TTN | p.F6763Lfs*7 p.Y31580N p.G28618K p.E14315A p.P11528L p.S5136L p.W3090* p.P68L | Frame_Shift_Del Missense Missense Missense Missense Missense Nonsense Missense | DEL SNP MNP SNP SNP SNP SNP SNP | 0.412 0.473 0.491 0.513 0.435 0.482 0.418 0.412 | 2 | - | - |
TTPA | - | - | - | - | 3 | Gain | - |
TUBAL3 | p.V188M | Missense | SNP | 0.308 | 3 | Gain | - |
TUBB8 | - | - | - | - | 3 | Gain | - |
TUBGCP3 | - | - | - | - | 3 | Gain | - |
TUBGCP5 | p.M527* | Frame_Shift_Del | DEL | 0.496 | 2 | - | - |
TULP2 | p.E217K | Missense | SNP | 0.497 | 2 | - | - |
TULP4 | p.R403Afs*24 p.S530F | Frame_Shift_Del Missense | DEL SNP | 0.333 0.381 | 2 | - | - |
TUSC1 | - | - | - | - | 1 | Loss | - |
TUSC2 | - | - | - | - | 1 | Loss | - |
TUSC3 | - | - | - | - | 1 | Loss | - |
TUT1 | p.F54Sfs*29 | Frame_Shift_Del | DEL | 0.532 | 2 | - | - |
TWF2 | - | - | - | - | 1 | Loss | - |
TWISTNB | p.K311Rfs*15 | Frame_Shift_Del | DEL | 0.498 | 2 | - | - |
TXK | p.R394K | Missense | SNP | 0.566 | 2 | - | - |
TXLNB | p.G113E | Missense | SNP | 0.525 | 2 | - | - |
TYRP1 | - | - | - | - | 1 | Loss | - |
U2AF1L5 | - | - | - | - | 1 | Loss | - |
UBA1 | p.N1041K | Missense | SNP | 1.000 | ND | ND | - |
UBA2 | p.L523P | Missense | SNP | 0.517 | 2 | - | - |
UBA3 | - | - | - | - | 1 | Loss | - |
UBA52 | - | - | - | - | 2 | - | UBA52--PLCG2 |
UBA7 | - | - | - | - | 1 | Loss | - |
UBAC2 | - | - | - | - | 3 | Gain | - |
UBAP1 | - | - | - | - | 1 | Loss | - |
UBAP2 | - | - | - | - | 1 | Loss | - |
UBASH3B | - | - | - | - | 1 | Loss | - |
UBE2E1 | - | - | - | - | 1 | Loss | - |
UBE2E2 | - | - | - | - | 1 | Loss | - |
UBE2G2 | p.P20H | Missense | SNP | 0.280 | 2 | - | - |
UBE2Q2P6 | . | Splice_Site | SNP | 0.212 | ND | ND | - |
UBE2QL1 | - | - | - | - | 4 | Gain | - |
UBE2R2 | - | - | - | - | 1 | Loss | - |
UBE2V2 | - | - | - | - | 3 | Gain | - |
UBE2W | - | - | - | - | 3 | Gain | - |
UBE2Z | p.K105E | Missense | SNP | 0.365 | 2 | - | - |
UBE3B | p.D823N | Missense | SNP | 0.467 | 2 | - | - |
UBE4A | - | - | - | - | 1 | Loss | - |
UBL3 | - | - | - | - | 3 | Gain | - |
UBP1 | - | - | - | - | 1 | Loss | - |
UBR1 | p.C1541G | Missense | SNP | 0.553 | 2 | - | - |
UBR3 | p.R1183* | Nonsense | SNP | 0.417 | 2 | - | - |
UBR5 | p.E2121Kfs*28 | Frame_Shift_Del | DEL | 0.158 | 3 | Gain | - |
UBXN2B | - | - | - | - | 3 | Gain | - |
UBXN8 | - | - | - | - | 1 | Loss | - |
UCHL3 | p.R141H | Missense | SNP | 0.782 | 3 | Gain | - |
UCMA | - | - | - | - | 3 | Gain | - |
UCN2 | - | - | - | - | 1 | Loss | - |
UCN3 | - | - | - | - | 3 | Gain | - |
UFM1 | - | - | - | - | 3 | Gain | - |
UGGT1 | p.D1432G | Missense | SNP | 0.480 | 2 | - | - |
UGGT2 | - | - | - | - | 3 | Gain | - |
UGT1A5 | p.L63P p.V249L | Missense Missense | SNP SNP | 0.247 0.126 | 2 | - | - |
UGT1A6 | p.A470V | Missense | SNP | 0.440 | 2 | - | - |
UGT2A1 | - | - | - | - | 1 | Loss | - |
UGT2A2 | - | - | - | - | 1 | Loss | - |
UGT2A3 | - | - | - | - | 1 | Loss | - |
UGT2B10 | p.S191F | Missense | SNP | 0.518 | 1 | Loss | - |
UGT2B11 | - | - | - | - | 1 | Loss | - |
UGT2B15 | - | - | - | - | 1 | Loss | - |
UGT2B17 | - | - | - | - | 1 | Loss | - |
UGT2B28 | - | - | - | - | 1 | Loss | - |
UGT2B4 | p.K524R | Missense | SNP | 0.398 | 1 | Loss | - |
UGT2B7 | p.V28M | Missense | SNP | 0.463 | 1 | Loss | - |
UGT3A1 | - | - | - | - | 4 | Gain | - |
UGT3A2 | - | - | - | - | 4 | Gain | - |
UHRF1 | p.D379N | Missense | SNP | 0.567 | 2 | - | - |
UHRF2 | - | - | - | - | 1 | Loss | - |
ULK4 | - | - | - | - | 1 | Loss | - |
UNC13A | p.Q360H | Missense | SNP | 0.547 | 2 | - | - |
UNC13B | - | - | - | - | 1 | Loss | - |
UNC13C | p.D275N p.G420R | Missense Missense | SNP SNP | 0.496 0.462 | 2 | - | - |
UNC5C | p.E121K | Missense | SNP | 0.490 | 2 | - | - |
UNC5CL | p.R38K | Missense | SNP | 0.476 | 2 | - | - |
UNC5D | p.P511S p.P843L | Missense Missense | SNP SNP | 1.000 0.982 | 1 | Loss | - |
UNK | p.I621V | Missense | SNP | 0.515 | 2 | - | - |
UPB1 | p.N197Tfs*34 | Frame_Shift_Del | DEL | 0.143 | 2 | - | - |
UPF1 | p.L219F | Missense | SNP | 0.444 | 2 | - | - |
UPF2 | - | - | - | - | 3 | Gain | - |
UPF3A | - | - | - | - | 3 | Gain | - |
UPK2 | - | - | - | - | 1 | Loss | - |
UPK3BL1 | - | - | - | - | 1 | Loss | - |
UQCRB | - | - | - | - | 3 | Gain | - |
UQCRC1 | - | - | - | - | 1 | Loss | - |
URAD | - | - | - | - | 3 | Gain | - |
USH2A | p.L4479F | Missense | SNP | 0.487 | 2 | - | - |
USP12 | - | - | - | - | 3 | Gain | - |
USP19 | - | - | - | - | 1 | Loss | - |
USP2 | - | - | - | - | 1 | Loss | - |
USP28 | - | - | - | - | 1 | Loss | - |
USP29 | p.N171D | Missense | SNP | 0.504 | 2 | - | - |
USP36 | p.P710S | Missense | SNP | 0.556 | 2 | - | - |
USP39 | p.T432I | Missense | SNP | 0.707 | 2 | - | - |
USP4 | - | - | - | - | 1 | Loss | - |
USP6 | p.P776H | Missense | SNP | 0.502 | 2 | - | - |
USP6NL | p.R704P | Missense | SNP | 0.301 | 3 | Gain | - |
USPL1 | - | - | - | - | 3 | Gain | - |
UTP14C | - | - | - | - | 3 | Gain | - |
UTP23 | - | - | - | - | 3 | Gain | - |
UTRN | p.A1050T p.G2511R | Missense Missense | SNP SNP | 0.479 0.498 | 2 | - | - |
UVRAG | p.S237Vfs*6 | Frame_Shift_Del | DEL | 0.544 | 2 | - | - |
VARS2 | p.A187T p.R638H | Missense Missense | SNP SNP | 0.543 0.434 | 2 | - | - |
VCAN | p.D3375G | Missense | SNP | 0.403 | 2 | - | - |
VCP | - | - | - | - | 1 | Loss | - |
VCPIP1 | - | - | - | - | 3 | Gain | - |
VDAC3 | - | - | - | - | 1 | Loss | - |
VEGFB | p.T166A | Missense | SNP | 0.473 | 2 | - | - |
VEZT | p.K199Nfs*20 | Frame_Shift_Del | DEL | 0.378 | 2 | - | - |
VGLL1 | p.P107H | Missense | SNP | 1.000 | ND | ND | - |
VGLL4 | - | - | - | - | 1 | Loss | - |
VHL | - | - | - | - | 1 | Loss | - |
VILL | - | - | - | - | 1 | Loss | - |
VIM | - | - | - | - | 3 | Gain | - |
VIP | p.R138K | Missense | SNP | 0.508 | 2 | - | - |
VIPR1 | - | - | - | - | 1 | Loss | - |
VIRMA | - | - | - | - | 3 | Gain | - |
VLDLR | - | - | - | - | 1 | Loss | - |
VN1R2 | p.S106L | Missense | SNP | 0.449 | 2 | - | - |
VPS11 | p.P136S | Missense | SNP | 0.983 | 1 | Loss | - |
VPS13A | p.Y2885Mfs*20 | Frame_Shift_Del | DEL | 0.130 | 2 | - | - |
VPS13B | - | - | - | - | 3 | Gain | - |
VPS26B | - | - | - | - | 1 | Loss | - |
VPS28 | - | - | - | - | 3 | Gain | - |
VPS36 | - | - | - | - | 3 | Gain | - |
VPS37A | - | - | - | - | 1 | Loss | - |
VPS4A | p.K287N | Missense | SNP | 0.163 | 2 | - | - |
VPS4B | - | - | - | - | 1 | Loss | - |
VSIG10 | p.P339Lfs*7 | Frame_Shift_Del | DEL | 0.449 | 2 | - | - |
VSIG10L2 | - | - | - | - | 1 | Loss | - |
VSIG2 | - | - | - | - | 1 | Loss | - |
VSIG8 | p.G304S | Missense | SNP | 0.370 | 2 | - | - |
VWA5A | - | - | - | - | 1 | Loss | - |
VWA5B1 | p.A249D | Missense | SNP | 0.476 | 2 | - | - |
VWA8 | - | - | - | - | 3 | Gain | - |
VXN | - | - | - | - | 3 | Gain | - |
WARS | p.Q255* | Nonsense | SNP | 0.417 | 2 | - | - |
WASF3 | p.P353S | Missense | SNP | 0.684 | 3 | Gain | - |
WASHC5 | - | - | - | - | 3 | Gain | - |
WBP4 | - | - | - | - | 3 | Gain | - |
WBSCR17 | p.R66Afs*24 p.P258S | Frame_Shift_Ins Missense | INS SNP | 0.329 0.525 | ND | ND | - |
WDFY2 | - | - | - | - | 3 | Gain | - |
WDFY3 | p.I1907V | Missense | SNP | 0.055 | 2 | - | - |
WDR20 | p.A267V | Missense | SNP | 0.461 | 2 | - | - |
WDR37 | - | - | - | - | 3 | Gain | - |
WDR48 | - | - | - | - | 1 | Loss | - |
WDR49 | p.G223R | Missense | SNP | 0.441 | 2 | - | - |
WDR6 | - | - | - | - | 1 | Loss | - |
WDR60 | p.R607H | Missense | SNP | 0.514 | 2 | - | - |
WDR70 | p.S84F | Missense | SNP | 0.793 | 4 | Gain | - |
WDR78 | p.P662S | Missense | SNP | 0.464 | 2 | - | - |
WDR82 | - | - | - | - | 1 | Loss | - |
WDR87 | p.V1240A | Missense | SNP | 0.455 | 2 | - | - |
WDR97 | - | - | - | - | 3 | Gain | - |
WDYHV1 | - | - | - | - | 3 | Gain | - |
WFDC3 | p.D185Y | Missense | SNP | 0.463 | 2 | - | - |
WIPF2 | p.H403Y | Missense | SNP | 0.476 | 2 | - | - |
WISP1 | - | - | - | - | 3 | Gain | - |
WNK1 | p.S2590N | Missense | SNP | 0.549 | 2 | - | - |
WNK2 | p.G1103E | Missense | SNP | 0.478 | 2 | - | - |
WNT3 | p.P281L | Missense | SNP | 0.429 | 2 | - | - |
WNT5A | - | - | - | - | 1 | Loss | - |
WNT7A | - | - | - | - | 1 | Loss | - |
WRB | p.P127S | Missense | SNP | 0.990 | 2 | - | - |
WRN | - | - | - | - | 1 | Loss | - |
WWC3 | p.T947Pfs*37 | Frame_Shift_Del | DEL | 0.947 | ND | ND | - |
WWP1 | - | - | - | - | 3 | Gain | - |
XCR1 | p.I256M | Missense | SNP | 1.000 | 1 | Loss | - |
XDH | p.G589N | Missense | MNP | 0.463 | 2 | - | - |
XIRP1 | - | - | - | - | 1 | Loss | - |
XIRP2 | p.Q342* p.I2150N p.P2421L | Nonsense Missense Missense | SNP SNP SNP | 0.539 0.482 0.477 | 2 | - | - |
XKR4 | - | - | - | - | 3 | Gain | - |
XKR5 | - | - | - | - | 1 | Loss | - |
XKR6 | - | - | - | - | 1 | Loss | - |
XKR9 | - | - | - | - | 3 | Gain | - |
XPC | - | - | - | - | 1 | Loss | - |
XPO4 | p.G423Afs*19 p.F68Y | Frame_Shift_Del Missense | DEL SNP | 0.296 0.223 | 2 | - | - |
XPO5 | p.K704T | Missense | SNP | 0.652 | 2 | - | - |
XPO7 | - | - | - | - | 1 | Loss | - |
XRRA1 | p.S558F | Missense | SNP | 0.440 | 2 | - | - |
XXYLT1 | p.E283Rfs*10 | Frame_Shift_Del | DEL | 0.465 | 2 | - | - |
XYLB | - | - | - | - | 1 | Loss | - |
XYLT2 | p.G529Afs*78 | Frame_Shift_Del | DEL | 0.463 | 2 | - | - |
YEATS2 | p.L863* p.P778S | Frame_Shift_Del Missense | DEL SNP | 0.500 0.509 | 2 | - | - |
YTHDF3 | - | - | - | - | 3 | Gain | - |
YWHAZ | - | - | - | - | 3 | Gain | - |
Z84492.1 | - | - | - | - | 1 | Loss | - |
ZAR1L | p.W34* | Nonsense | MNP | 0.294 | 3 | Gain | - |
ZBTB10 | - | - | - | - | 3 | Gain | - |
ZBTB16 | - | - | - | - | 1 | Loss | - |
ZBTB18 | p.T296I | Missense | SNP | 0.519 | 2 | - | - |
ZBTB20 | p.P692Lfs*43 p.K576Sfs*42 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.110 0.052 | 2 | - | - |
ZBTB4 | p.V300M | Missense | SNP | 0.532 | 2 | - | - |
ZBTB40 | p.E1126K | Missense | SNP | 0.514 | 2 | - | - |
ZBTB43 | p.K358E | Missense | SNP | 0.059 | 2 | - | - |
ZBTB44 | - | - | - | - | 1 | Loss | - |
ZBTB47 | - | - | - | - | 1 | Loss | - |
ZBTB5 | - | - | - | - | 1 | Loss | - |
ZC2HC1A | - | - | - | - | 3 | Gain | - |
ZC3H12B | p.P192S | Missense | SNP | 1.000 | ND | ND | - |
ZC3H12C | - | - | - | - | 1 | Loss | - |
ZC3H13 | - | - | - | - | 3 | Gain | - |
ZC3H18 | p.R704Qfs*14 p.H126Y | Frame_Shift_Ins Missense | INS SNP | 0.290 0.495 | 2 | - | - |
ZC3H3 | - | - | - | - | 3 | Gain | - |
ZCCHC2 | - | - | - | - | 1 | Loss | - |
ZCCHC24 | p.R194Afs*? | Frame_Shift_Del | DEL | 0.450 | 2 | - | - |
ZCCHC5 | p.E175K | Missense | SNP | 1.000 | ND | ND | - |
ZCCHC7 | - | - | - | - | 1 | Loss | - |
ZCWPW2 | - | - | - | - | 1 | Loss | - |
ZDBF2 | p.K1728Nfs*5 | Frame_Shift_Del | DEL | 0.448 | 2 | - | - |
ZDHHC11B | - | - | - | - | 3 | Gain | - |
ZDHHC2 | - | - | - | - | 1 | Loss | - |
ZDHHC20 | - | - | - | - | 3 | Gain | - |
ZDHHC21 | - | - | - | - | 1 | Loss | - |
ZDHHC3 | - | - | - | - | 1 | Loss | - |
ZFAND1 | p.L223S | Missense | SNP | 0.390 | 3 | Gain | - |
ZFAND2B | p.G138R | Missense | SNP | 0.529 | 2 | - | - |
ZFAT | - | - | - | - | 3 | Gain | - |
ZFHX4 | p.A1707T | Missense | SNP | 0.060 | 3 | Gain | - |
ZFP41 | - | - | - | - | 3 | Gain | - |
ZFP82 | p.E398K | Missense | SNP | 0.476 | 2 | - | - |
ZFPM2 | - | - | - | - | 3 | Gain | - |
ZFR | - | - | - | - | 4 | Gain | - |
ZFR2 | p.A888V | Missense | SNP | 0.519 | 2 | - | - |
ZFYVE16 | p.K148Nfs*14 | Frame_Shift_Del | DEL | 0.435 | 2 | - | - |
ZHX1 | p.K870E | Missense | SNP | 0.258 | 3 | Gain | - |
ZHX1-C8orf76 | - | - | - | - | 3 | Gain | - |
ZHX2 | p.V433M | Missense | SNP | 0.593 | 3 | Gain | - |
ZHX3 | p.P935L | Missense | SNP | 0.629 | 2 | - | - |
ZIC2 | - | - | - | - | 3 | Gain | - |
ZIC5 | - | - | - | - | 3 | Gain | - |
ZKSCAN5 | p.H661N | Missense | SNP | 0.481 | 2 | - | - |
ZKSCAN7 | - | - | - | - | 1 | Loss | - |
ZMAT4 | - | - | - | - | 1 | Loss | - |
ZMYND10 | - | - | - | - | 1 | Loss | - |
ZMYND11 | - | - | - | - | 3 | Gain | - |
ZMYND8 | p.D1094N | Missense | SNP | 0.563 | 2 | - | - |
ZNF106 | p.S1583F p.H499Y | Missense Missense | SNP SNP | 0.447 0.505 | 2 | - | - |
ZNF112 | p.Y749H | Missense | SNP | 0.529 | 2 | - | - |
ZNF114 | p.D166N | Missense | SNP | 0.486 | 2 | - | - |
ZNF131 | - | - | - | - | 4 | Gain | - |
ZNF16 | - | - | - | - | 3 | Gain | - |
ZNF180 | p.I66L | Missense | SNP | 0.565 | 2 | - | - |
ZNF197 | - | - | - | - | 1 | Loss | - |
ZNF20 | p.R271C | Missense | SNP | 0.470 | 2 | - | - |
ZNF202 | - | - | - | - | 1 | Loss | - |
ZNF219 | p.P567L | Missense | SNP | 0.573 | 2 | - | - |
ZNF224 | p.N261D | Missense | SNP | 0.526 | 2 | - | - |
ZNF233 | p.R19M | Missense | SNP | 0.507 | 2 | - | - |
ZNF250 | - | - | - | - | 3 | Gain | - |
ZNF251 | - | - | - | - | 3 | Gain | - |
ZNF253 | p.F209V | Missense | SNP | 0.532 | 2 | - | - |
ZNF256 | p.S555F | Missense | SNP | 0.450 | 2 | - | - |
ZNF260 | p.H270Y | Missense | SNP | 0.424 | 2 | - | - |
ZNF263 | p.R454H | Missense | SNP | 0.428 | 2 | - | - |
ZNF273 | p.L473F | Missense | SNP | 0.511 | 2 | - | - |
ZNF274 | p.P283S | Missense | SNP | 0.500 | 2 | - | - |
ZNF317 | p.S515P | Missense | SNP | 0.405 | 2 | - | - |
ZNF335 | p.G211C | Missense | SNP | 0.302 | 2 | - | - |
ZNF33B | p.K775N | Missense | SNP | 0.441 | 2 | - | - |
ZNF34 | - | - | - | - | 3 | Gain | - |
ZNF341 | p.P160Hfs*7 | Frame_Shift_Del | DEL | 0.589 | 2 | - | - |
ZNF345 | p.S440G | Missense | SNP | 0.530 | 2 | - | - |
ZNF35 | - | - | - | - | 1 | Loss | - |
ZNF384 | p.R395W | Missense | SNP | 0.423 | 2 | - | - |
ZNF385D | - | - | - | - | 1 | Loss | - |
ZNF395 | - | - | - | - | 1 | Loss | - |
ZNF432 | p.N204Tfs*45 | Frame_Shift_Del | DEL | 0.272 | 2 | - | - |
ZNF445 | - | - | - | - | 1 | Loss | - |
ZNF454 | p.E154G | Missense | SNP | 0.414 | 2 | - | - |
ZNF469 | p.R3417Gfs*56 | Frame_Shift_Del | DEL | 0.397 | 2 | - | - |
ZNF488 | p.E315K | Missense | SNP | 0.469 | 2 | - | - |
ZNF490 | p.K99Nfs*18 | Frame_Shift_Del | DEL | 0.398 | 2 | - | - |
ZNF501 | - | - | - | - | 1 | Loss | - |
ZNF502 | - | - | - | - | 1 | Loss | - |
ZNF513 | p.R377Q | Missense | SNP | 0.429 | 2 | - | - |
ZNF517 | p.P488L | Missense | SNP | 0.622 | 3 | Gain | - |
ZNF518A | p.N617K | Missense | SNP | 0.548 | 2 | - | - |
ZNF528 | p.F530L | Missense | SNP | 0.592 | 2 | - | - |
ZNF546 | p.R707* | Nonsense | SNP | 0.450 | 2 | - | - |
ZNF549 | p.P84H | Missense | SNP | 0.402 | 2 | - | - |
ZNF559 | p.H243Y | Missense | SNP | 0.532 | 2 | - | - |
ZNF572 | - | - | - | - | 3 | Gain | - |
ZNF573 | p.E86K | Missense | SNP | 0.477 | 2 | - | - |
ZNF574 | p.R841C | Missense | SNP | 0.419 | 2 | - | - |
ZNF582 | p.P493L | Missense | SNP | 0.472 | 2 | - | - |
ZNF585B | p.A3V | Missense | SNP | 0.475 | 2 | - | - |
ZNF587B | p.P269S | Missense | SNP | 0.529 | 2 | - | - |
ZNF589 | - | - | - | - | 1 | Loss | - |
ZNF596 | - | - | - | - | 1 | Loss | - |
ZNF598 | p.P695L | Missense | SNP | 0.537 | 2 | - | - |
ZNF606 | p.S609* | Nonsense | SNP | 0.073 | 2 | - | - |
ZNF608 | p.G639E | Missense | SNP | 0.539 | 2 | - | - |
ZNF610 | p.G22E | Missense | SNP | 0.263 | 2 | - | - |
ZNF611 | p.V464A | Missense | SNP | 0.547 | 2 | - | - |
ZNF619 | - | - | - | - | 1 | Loss | - |
ZNF620 | - | - | - | - | 1 | Loss | - |
ZNF621 | - | - | - | - | 1 | Loss | - |
ZNF622 | - | - | - | - | 4 | Gain | - |
ZNF623 | - | - | - | - | 3 | Gain | - |
ZNF629 | p.E203* | Nonsense | SNP | 0.404 | 2 | - | - |
ZNF658 | - | - | - | - | 1 | Loss | - |
ZNF660 | - | - | - | - | 1 | Loss | - |
ZNF662 | - | - | - | - | 1 | Loss | - |
ZNF665 | p.H136Y | Missense | SNP | 0.557 | 2 | - | - |
ZNF667 | p.L542F p.R121Q | Missense Missense | SNP SNP | 0.500 0.474 | 2 | - | - |
ZNF671 | p.H473Y | Missense | SNP | 0.489 | 2 | - | - |
ZNF683 | p.I382T | Missense | SNP | 0.463 | 2 | - | - |
ZNF695 | p.N155S | Missense | SNP | 0.495 | 2 | - | - |
ZNF696 | - | - | - | - | 3 | Gain | - |
ZNF697 | p.R337C | Missense | SNP | 0.442 | 2 | - | - |
ZNF7 | - | - | - | - | 3 | Gain | - |
ZNF703 | - | - | - | - | 1 | Loss | - |
ZNF704 | - | - | - | - | 3 | Gain | - |
ZNF706 | - | - | - | - | 3 | Gain | - |
ZNF707 | - | - | - | - | 3 | Gain | - |
ZNF717 | - | - | - | - | 1 | Loss | - |
ZNF728 | p.G169E | Missense | SNP | 0.502 | 2 | - | - |
ZNF746 | p.R583P | Missense | SNP | 0.433 | 2 | - | - |
ZNF749 | p.S420R | Missense | SNP | 0.401 | 2 | - | - |
ZNF765 | p.R366Q | Missense | SNP | 0.161 | 2 | - | - |
ZNF766 | p.H429Y | Missense | SNP | 0.433 | 2 | - | - |
ZNF773 | p.F387Lfs*81 | Frame_Shift_Del | DEL | 0.305 | 2 | - | - |
ZNF777 | p.A362V | Missense | SNP | 0.428 | 2 | - | - |
ZNF778 | p.R413* | Nonsense | SNP | 0.460 | 2 | - | - |
ZNF787 | p.R114H | Missense | SNP | 0.285 | 2 | - | - |
ZNF79 | p.L460F | Missense | SNP | 1.000 | 2 | - | - |
ZNF804A | p.D304Rfs*18 p.S454F | Frame_Shift_Ins Missense | INS SNP | 0.289 0.477 | 2 | - | - |
ZNF837 | p.R439H | Missense | SNP | 0.490 | 2 | - | - |
ZNF852 | - | - | - | - | 1 | Loss | - |
ZNF853 | p.E136K | Missense | SNP | 0.479 | 2 | - | - |
ZNF860 | - | - | - | - | 1 | Loss | - |
ZNF878 | p.L410F | Missense | SNP | 0.438 | 2 | - | - |
ZNF90 | p.P62S p.S549A | Missense Missense | SNP SNP | 0.502 0.525 | 2 | - | - |
ZNF93 | p.R116K | Missense | SNP | 0.490 | 2 | - | - |
ZPBP2 | p.R246W | Missense | SNP | 0.475 | 2 | - | - |
ZPR1 | - | - | - | - | 1 | Loss | - |
ZRANB3 | p.K322N | Missense | SNP | 0.431 | 2 | - | - |
ZSCAN18 | p.S405L | Missense | SNP | 0.410 | 2 | - | - |
ZSCAN31 | p.E49K | Missense | SNP | 0.451 | 2 | - | - |
ZSCAN32 | p.X123_splice | Splice_Site | SNP | 0.475 | 2 | - | - |
ZSWIM6 | p.E613Rfs*5 p.S1081F | Frame_Shift_Ins Missense | INS SNP | 0.263 0.491 | 2 | - | - |
ZW10 | - | - | - | - | 1 | Loss | - |
ZXDA | p.V757I | Missense | SNP | 1.000 | ND | ND | - |