Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | Called |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
A1CF | - | - | - | - | 4 | Gain | - |
AARD | - | - | - | - | 3 | Gain | - |
ABCB4 | p.S339Qfs*3 | Frame_Shift_Del | DEL | 0.387 | 2 | - | - |
ABCB6 | p.G318Vfs*9 | Frame_Shift_Del | DEL | 0.442 | 2 | - | - |
ABCC10 | p.Q369* | Nonsense | SNP | 0.550 | 2 | - | - |
ABCC2 | - | - | - | - | 4 | Gain | - |
ABCG8 | p.T401M | Missense | SNP | 0.468 | 2 | - | - |
ABHD3 | - | - | - | - | 3 | Gain | - |
ABI1 | - | - | - | - | 4 | Gain | - |
ABLIM1 | - | - | - | - | 4 | Gain | - |
ABRA | - | - | - | - | 3 | Gain | - |
ABRAXAS2 | - | - | - | - | 4 | Gain | - |
AC007998.2 | - | - | - | - | 3 | Gain | - |
AC009879.2 | - | - | - | - | 3 | Gain | - |
AC009879.3 | - | - | - | - | 3 | Gain | - |
AC012213.5 | - | - | - | - | 3 | Gain | - |
AC012254.2 | - | - | - | - | 3 | Gain | - |
AC022400.6 | - | - | - | - | 4 | Gain | - |
AC022826.2 | - | - | - | - | 3 | Gain | - |
AC036214.3 | - | - | - | - | 3 | Gain | - |
AC037459.1 | - | - | - | - | 3 | Gain | - |
AC067752.1 | - | - | - | - | 4 | Gain | - |
AC068896.1 | - | - | - | - | 4 | Gain | - |
AC090227.1 | - | - | - | - | 3 | Gain | - |
AC090360.1 | - | - | - | - | 3 | Gain | - |
AC091551.1 | - | - | - | - | 3 | Gain | - |
AC093512.2 | - | - | - | - | 2 | - | LRRC23--AC093512.2 |
AC093668.2 | - | - | - | - | 1 | Loss | - |
AC093668.3 | - | - | - | - | 1 | Loss | - |
AC100868.1 | - | - | - | - | 3 | Gain | - |
AC105052.1 | - | - | - | - | 1 | Loss | - |
AC105052.3 | - | - | - | - | 1 | Loss | - |
AC107959.5 | - | - | - | - | 3 | Gain | - |
AC110275.1 | - | - | - | - | 3 | Gain | - |
AC124312.3 | - | - | - | - | ND | ND | PSEN1--AC124312.3 |
AC138647.1 | - | - | - | - | 3 | Gain | - |
AC138696.1 | - | - | - | - | 3 | Gain | - |
AC144573.1 | - | - | - | - | 3 | Gain | - |
ACAA2 | - | - | - | - | 3 | Gain | - |
ACAD11 | p.R127Q | Missense | SNP | 0.430 | 2 | - | - |
ACADSB | - | - | - | - | 4 | Gain | - |
ACBD5 | - | - | - | - | 4 | Gain | - |
ACBD7 | - | - | - | - | 4 | Gain | - |
ACSL5 | - | - | - | - | 4 | Gain | - |
ACSM6 | - | - | - | - | 4 | Gain | - |
ACTA2 | - | - | - | - | 4 | Gain | - |
ACTB | p.P332S | Missense | SNP | 0.426 | 2 | - | - |
ACTR1A | - | - | - | - | 4 | Gain | - |
ACTR2 | p.R354C | Missense | SNP | 0.358 | 2 | - | - |
ACVR2A | p.K437Rfs*5 | Frame_Shift_Del | DEL | 0.379 | 2 | - | - |
ADAM12 | - | - | - | - | 4 | Gain | - |
ADAM18 | - | - | - | - | 3 | Gain | - |
ADAM2 | - | - | - | - | 3 | Gain | - |
ADAM20 | p.R103Qfs*12 | Frame_Shift_Ins | INS | 0.247 | 2 | - | - |
ADAM21 | p.V339M | Missense | SNP | 0.437 | 2 | - | - |
ADAM28 | - | - | - | - | 3 | Gain | - |
ADAM32 | - | - | - | - | 3 | Gain | - |
ADAM7 | - | - | - | - | 3 | Gain | - |
ADAM8 | - | - | - | - | 3 | Gain | - |
ADAM9 | - | - | - | - | 3 | Gain | - |
ADAMDEC1 | - | - | - | - | 3 | Gain | - |
ADAMTS14 | - | - | - | - | 4 | Gain | - |
ADARB2 | - | - | - | - | 4 | Gain | - |
ADCK5 | - | - | - | - | 3 | Gain | - |
ADCY5 | p.D192_S193del | In_Frame_Del | DEL | 0.291 | 2 | - | - |
ADCY8 | - | - | - | - | 3 | Gain | - |
ADCYAP1 | p.X37_splice | Splice_Site | SNP | 0.353 | 3 | Gain | - |
ADD2 | p.R134Q | Missense | SNP | 0.326 | 2 | - | - |
ADD3 | p.R434C | Missense | SNP | 0.707 | 4 | Gain | - |
ADGRA1 | - | - | - | - | 3 | Gain | - |
ADGRA2 | - | - | - | - | 3 | Gain | - |
ADGRB1 | - | - | - | - | 3 | Gain | - |
ADGRF5 | p.Y1113H | Missense | SNP | 0.450 | 2 | - | - |
ADGRL3 | p.V963Cfs*39 | Frame_Shift_Del | DEL | 0.440 | 2 | - | - |
ADHFE1 | - | - | - | - | 3 | Gain | - |
ADIRF | - | - | - | - | 4 | Gain | - |
ADK | - | - | - | - | 4 | Gain | - |
ADNP2 | - | - | - | - | 3 | Gain | - |
ADO | - | - | - | - | 4 | Gain | - |
ADRA1A | - | - | - | - | 3 | Gain | - |
ADRA2A | - | - | - | - | 4 | Gain | - |
ADRB1 | - | - | - | - | 4 | Gain | - |
ADRB3 | - | - | - | - | 3 | Gain | - |
AEBP1 | p.Q255Afs*21 | Frame_Shift_Ins | INS | 0.349 | 2 | - | - |
AFAP1L2 | - | - | - | - | 4 | Gain | - |
AFG3L2 | - | - | - | - | 3 | Gain | - |
AFMID | p.G71S | Missense | SNP | 0.528 | 2 | - | - |
AGAP2 | p.V630M | Missense | SNP | 0.400 | 2 | - | - |
AGAP4 | - | - | - | - | 3 | Gain | - |
AGAP5 | - | - | - | - | 4 | Gain | - |
AGAP6 | - | - | - | - | 4 | Gain | - |
AGAP9 | - | - | - | - | 3 | Gain | - |
AGL | p.N1304Kfs*7 | Frame_Shift_Ins | INS | 0.345 | 2 | - | - |
AGO1 | p.L17Cfs*99 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
AGO2 | - | - | - | - | 3 | Gain | - |
AGPAT5 | - | - | - | - | 3 | Gain | - |
AIF1 | p.P137H | Missense | SNP | 0.433 | 2 | - | - |
AIFM2 | - | - | - | - | 4 | Gain | - |
AIFM3 | p.V462M | Missense | SNP | 0.462 | 2 | - | - |
AIM1 | p.P734L | Missense | SNP | 0.445 | ND | ND | - |
AKAIN1 | - | - | - | - | 3 | Gain | - |
AKAP9 | p.K39Rfs*17 p.V3673A | Frame_Shift_Del Missense | DEL SNP | 0.447 0.389 | 2 | - | - |
AKR1B1 | p.A209T | Missense | SNP | 0.487 | 2 | - | - |
AKR1C1 | - | - | - | - | 4 | Gain | - |
AKR1C2 | - | - | - | - | 4 | Gain | - |
AKR1C3 | - | - | - | - | 4 | Gain | - |
AKR1C4 | - | - | - | - | 4 | Gain | - |
AKR1C8P | - | - | - | - | 4 | Gain | - |
AKR1E2 | - | - | - | - | 4 | Gain | - |
AL117339.5 | - | - | - | - | 4 | Gain | - |
AL133352.1 | - | - | - | - | 4 | Gain | - |
AL133353.2 | - | - | - | - | 4 | Gain | - |
AL139099.4 | - | - | - | - | ND | ND | AL139099.4--TUBB4B |
AL157392.5 | - | - | - | - | 4 | Gain | - |
AL355315.1 | - | - | - | - | 4 | Gain | - |
AL356053.1 | p.I188* | Frame_Shift_Del | DEL | 0.118 | ND | ND | - |
AL360181.3 | - | - | - | - | 3 | Gain | - |
AL365273.2 | - | - | - | - | 4 | Gain | - |
AL583836.1 | - | - | - | - | 4 | Gain | - |
ALDH18A1 | - | - | - | - | 4 | Gain | - |
ALDH1A2 | p.R85C | Missense | SNP | 0.474 | 2 | - | - |
ALDH3B2 | p.L213M | Missense | SNP | 0.582 | 2 | - | - |
ALDOC | p.R22Q | Missense | SNP | 0.542 | 2 | - | - |
ALKAL1 | - | - | - | - | 3 | Gain | - |
ALKBH4 | p.C267Y | Missense | SNP | 0.509 | 2 | - | - |
ALOX5 | - | - | - | - | 3 | Gain | - |
ALPK2 | - | - | - | - | 3 | Gain | - |
ALS2CR11 | p.N837Ifs*9 | Frame_Shift_Del | DEL | 0.411 | ND | ND | - |
AMT | p.L155I | Missense | SNP | 0.513 | 2 | - | - |
ANAPC16 | - | - | - | - | 4 | Gain | - |
ANGPT1 | - | - | - | - | 3 | Gain | - |
ANGPT2 | p.I234* | Frame_Shift_Del | DEL | 0.590 | 3 | Gain | - |
ANK1 | - | - | - | - | 3 | Gain | - |
ANK2 | p.A1819V | Missense | SNP | 0.485 | 2 | - | - |
ANK3 | - | - | - | - | 4 | Gain | - |
ANKFN1 | p.R763K | Missense | SNP | 0.391 | 2 | - | - |
ANKRD1 | - | - | - | - | 4 | Gain | - |
ANKRD11 | p.A2265Pfs*72 | Frame_Shift_Del | DEL | 0.523 | 2 | - | - |
ANKRD12 | - | - | - | - | 3 | Gain | - |
ANKRD16 | - | - | - | - | 4 | Gain | - |
ANKRD2 | - | - | - | - | 4 | Gain | - |
ANKRD22 | - | - | - | - | 4 | Gain | - |
ANKRD26 | - | - | - | - | 4 | Gain | - |
ANKRD27 | p.H464Y | Missense | SNP | 0.388 | 2 | - | - |
ANKRD29 | - | - | - | - | 3 | Gain | - |
ANKRD30A | - | - | - | - | 4 | Gain | - |
ANKRD30B | - | - | - | - | 3 | Gain | - |
ANKRD31 | p.G512Vfs*20 | Frame_Shift_Del | DEL | 0.618 | 2 | - | - |
ANKRD46 | - | - | - | - | 3 | Gain | - |
ANKRD62 | - | - | - | - | 3 | Gain | - |
ANKS3 | p.R550H | Missense | SNP | 0.472 | 2 | - | - |
ANO4 | p.A294V | Missense | SNP | 0.366 | 2 | - | - |
ANO6 | p.V698I | Missense | SNP | 0.330 | 2 | - | - |
ANTXRL | - | - | - | - | 3 | Gain | - |
ANXA11 | - | - | - | - | 4 | Gain | - |
ANXA13 | - | - | - | - | 3 | Gain | - |
ANXA7 | - | - | - | - | 4 | Gain | - |
ANXA8 | - | - | - | - | 3 | Gain | - |
ANXA8L1 | - | - | - | - | 3 | Gain | - |
AOC1 | p.R190Gfs*18 | Frame_Shift_Del | DEL | 0.447 | 2 | - | - |
AP1G1 | p.R8W | Missense | SNP | 0.383 | 2 | - | - |
AP2A2 | p.P670Lfs*67 p.A376T | Frame_Shift_Del Missense | DEL SNP | 0.762 0.512 | 2 | - | - |
AP3M1 | - | - | - | - | 4 | Gain | - |
AP3M2 | - | - | - | - | 3 | Gain | - |
APBB1IP | - | - | - | - | 4 | Gain | - |
APC | p.E902K p.P1604L | Missense Missense | SNP SNP | 0.463 0.435 | 2 | - | - |
APCDD1 | - | - | - | - | 3 | Gain | - |
APOBR | p.G267C | Missense | SNP | 0.438 | 2 | - | - |
APOL2 | p.R87Q | Missense | SNP | 0.407 | 2 | - | - |
AQP2 | p.T125M | Missense | SNP | 0.533 | 2 | - | - |
AQP4 | - | - | - | - | 3 | Gain | - |
ARAP2 | p.A469T p.G250* | Missense Nonsense | SNP SNP | 0.476 0.479 | 2 | - | - |
ARC | - | - | - | - | 3 | Gain | - |
ARFGEF1 | - | - | - | - | 3 | Gain | - |
ARGLU1 | p.R45H p.A186T | Missense Missense | SNP SNP | 0.435 0.405 | 2 | - | - |
ARHGAP12 | - | - | - | - | 4 | Gain | - |
ARHGAP19 | - | - | - | - | 4 | Gain | - |
ARHGAP19-SLIT1 | - | - | - | - | 4 | Gain | - |
ARHGAP21 | - | - | - | - | 4 | Gain | - |
ARHGAP22 | - | - | - | - | 3 | Gain | - |
ARHGAP28 | - | - | - | - | 3 | Gain | - |
ARHGAP39 | p.V443I | Missense | SNP | 0.330 | 3 | Gain | - |
ARHGAP6 | p.G745R p.R433Q | Missense Missense | SNP SNP | 0.408 0.447 | ND | ND | - |
ARHGEF1 | p.D382N | Missense | SNP | 0.486 | 2 | - | - |
ARHGEF10 | - | - | - | - | 3 | Gain | - |
ARHGEF10L | p.T495M | Missense | SNP | 0.373 | 2 | - | - |
ARHGEF40 | p.R1076Gfs*18 | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
ARID1A | p.P1175Hfs*5 p.D1850Gfs*4 p.X751_splice | Frame_Shift_Del Frame_Shift_Ins Splice_Site | DEL INS SNP | 0.580 0.258 0.485 | 2 | - | - |
ARID1B | p.Q1810* | Nonsense | SNP | 0.412 | 2 | - | - |
ARID3A | p.X499_splice | Splice_Site | SNP | 0.559 | 2 | - | - |
ARID4B | p.Q1041* | Nonsense | SNP | 0.471 | 2 | - | - |
ARID5B | - | - | - | - | 4 | Gain | - |
ARL2 | p.R78Q | Missense | SNP | 0.494 | 2 | - | - |
ARL3 | - | - | - | - | 4 | Gain | - |
ARL5B | - | - | - | - | 4 | Gain | - |
ARMC1 | - | - | - | - | 3 | Gain | - |
ARMC3 | - | - | - | - | 4 | Gain | - |
ARMC4 | - | - | - | - | 4 | Gain | - |
ARMC9 | p.G2R | Missense | SNP | 0.424 | 2 | - | - |
ARMH3 | - | - | - | - | 4 | Gain | - |
ARMS2 | - | - | - | - | 4 | Gain | - |
AS3MT | - | - | - | - | 4 | Gain | - |
ASAH1 | - | - | - | - | 3 | Gain | - |
ASAH2 | - | - | - | - | 4 | Gain | - |
ASAH2B | - | - | - | - | 4 | Gain | - |
ASAP1 | - | - | - | - | 3 | Gain | - |
ASB13 | - | - | - | - | 4 | Gain | - |
ASCC1 | - | - | - | - | 4 | Gain | - |
ASH1L | p.I1341N | Missense | SNP | 0.497 | 2 | - | - |
ASH2L | - | - | - | - | 3 | Gain | - |
ASPH | - | - | - | - | 3 | Gain | - |
ASXL3 | - | - | - | - | 3 | Gain | - |
ATAD1 | - | - | - | - | 4 | Gain | - |
ATAD2 | - | - | - | - | 3 | Gain | - |
ATE1 | - | - | - | - | 4 | Gain | - |
ATOH7 | - | - | - | - | 4 | Gain | - |
ATP10A | p.T1205Pfs*4 | Frame_Shift_Del | DEL | 0.571 | 2 | - | - |
ATP5F1A | - | - | - | - | 3 | Gain | - |
ATP5F1C | - | - | - | - | 4 | Gain | - |
ATP5MD | - | - | - | - | 4 | Gain | - |
ATP6V0D2 | - | - | - | - | 3 | Gain | - |
ATP6V1B2 | - | - | - | - | 3 | Gain | - |
ATP6V1C1 | - | - | - | - | 3 | Gain | - |
ATP6V1D | p.R30Q | Missense | SNP | 0.487 | 2 | - | - |
ATP6V1H | - | - | - | - | 3 | Gain | - |
ATP8A1 | p.R725H | Missense | SNP | 0.478 | 2 | - | - |
ATP8A2 | p.V506M | Missense | SNP | 0.454 | 2 | - | - |
ATP8B1 | - | - | - | - | 3 | Gain | - |
ATP9B | - | - | - | - | 3 | Gain | - |
ATRNL1 | - | - | - | - | 4 | Gain | - |
AVIL | p.G118Vfs*6 p.T480M | Frame_Shift_Del Missense | DEL SNP | 0.403 0.592 | 2 | - | - |
AVL9 | p.G397A | Missense | SNP | 0.401 | 2 | - | - |
AVPI1 | - | - | - | - | 4 | Gain | - |
AZIN1 | - | - | - | - | 3 | Gain | - |
B3GNT6 | p.G221D | Missense | SNP | 0.474 | 2 | - | - |
B4GALNT4 | p.T982M | Missense | SNP | 0.451 | 2 | - | - |
B4GALT6 | - | - | - | - | 3 | Gain | - |
BAALC | - | - | - | - | 3 | Gain | - |
BAG3 | - | - | - | - | 4 | Gain | - |
BAG4 | - | - | - | - | 3 | Gain | - |
BAHCC1 | p.G1603R | Missense | SNP | 0.528 | 2 | - | - |
BAIAP2L2 | p.V396M | Missense | SNP | 0.557 | 2 | - | - |
BAIAP3 | p.R785W | Missense | SNP | 0.443 | 2 | - | - |
BAMBI | - | - | - | - | 4 | Gain | - |
BANP | p.A232T | Missense | SNP | 0.351 | 2 | - | - |
BBIP1 | - | - | - | - | 4 | Gain | - |
BCAS3 | p.G891Efs*76 | Frame_Shift_Del | DEL | 0.491 | 2 | - | - |
BCCIP | - | - | - | - | 4 | Gain | - |
BCHE | p.N134Mfs*5 | Frame_Shift_Del | DEL | 0.942 | 2 | - | - |
BCKDHA | p.T211M | Missense | SNP | 0.493 | 2 | - | - |
BCL2 | - | - | - | - | 3 | Gain | - |
BCL9L | p.P1127Hfs*21 p.A77Gfs*14 | Frame_Shift_Del Frame_Shift_Ins | DEL INS | 0.283 0.292 | 2 | - | - |
BCR | p.R232W | Missense | SNP | 0.484 | 2 | - | - |
BEND3 | p.P494Rfs*46 | Frame_Shift_Del | DEL | 0.451 | 2 | - | - |
BEND7 | - | - | - | - | 4 | Gain | - |
BHLHE22 | - | - | - | - | 3 | Gain | - |
BICC1 | - | - | - | - | 4 | Gain | - |
BIN3 | - | - | - | - | 3 | Gain | - |
BIRC7 | p.Q54* | Nonsense | SNP | 0.383 | 2 | - | - |
BLK | - | - | - | - | 3 | Gain | - |
BLNK | - | - | - | - | 4 | Gain | - |
BLOC1S2 | - | - | - | - | 4 | Gain | - |
BMI1 | - | - | - | - | 4 | Gain | - |
BMP1 | - | - | - | - | 3 | Gain | - |
BMPR1A | - | - | - | - | 4 | Gain | - |
BMS1 | - | - | - | - | 3 | Gain | - |
BNIP3 | - | - | - | - | 3 | Gain | - |
BNIP3L | - | - | - | - | 3 | Gain | - |
BOD1L1 | p.E2153K | Missense | SNP | 0.440 | 2 | - | - |
BOD1L2 | - | - | - | - | 3 | Gain | - |
BOP1 | - | - | - | - | 3 | Gain | - |
BORCS7 | - | - | - | - | 4 | Gain | - |
BORCS7-ASMT | - | - | - | - | 4 | Gain | - |
BPIFB4 | p.V74Sfs*9 p.R289W | Frame_Shift_Ins Missense | INS SNP | 0.293 0.443 | 2 | - | - |
BRD4 | p.R444C | Missense | SNP | 0.393 | 2 | - | - |
BRF2 | - | - | - | - | 3 | Gain | - |
BRPF1 | p.Q938Sfs*5 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
BRSK1 | p.R379Gfs*9 | Frame_Shift_Del | DEL | 0.402 | 2 | - | - |
BTAF1 | - | - | - | - | 4 | Gain | - |
BTBD16 | - | - | - | - | 4 | Gain | - |
BTRC | - | - | - | - | 4 | Gain | - |
BUB3 | - | - | - | - | 4 | Gain | - |
C10orf105 | - | - | - | - | 4 | Gain | - |
C10orf113 | - | - | - | - | 4 | Gain | - |
C10orf120 | - | - | - | - | 4 | Gain | - |
C10orf53 | - | - | - | - | 4 | Gain | - |
C10orf55 | - | - | - | - | 4 | Gain | - |
C10orf62 | - | - | - | - | 4 | Gain | - |
C10orf67 | - | - | - | - | 4 | Gain | - |
C10orf71 | - | - | - | - | 3 | Gain | - |
C10orf82 | - | - | - | - | 4 | Gain | - |
C10orf88 | - | - | - | - | 4 | Gain | - |
C10orf90 | - | - | - | - | 4 | Gain | - |
C10orf99 | - | - | - | - | 4 | Gain | - |
C17orf74 | p.P442Rfs*25 | Frame_Shift_Del | DEL | 0.385 | ND | ND | - |
C18orf21 | - | - | - | - | 3 | Gain | - |
C18orf25 | - | - | - | - | 3 | Gain | - |
C18orf32 | - | - | - | - | 3 | Gain | - |
C18orf54 | - | - | - | - | 3 | Gain | - |
C18orf63 | - | - | - | - | 3 | Gain | - |
C18orf8 | p.C394Hfs*4 | Frame_Shift_Del | DEL | 0.521 | ND | ND | - |
C1D | p.N120Mfs*61 | Frame_Shift_Del | DEL | 0.481 | 2 | - | - |
C1QB | p.C31Y | Missense | SNP | 0.534 | 2 | - | - |
C1QL3 | p.R180H | Missense | SNP | 0.240 | 4 | Gain | - |
C21orf58 | p.T203M | Missense | SNP | 0.449 | 2 | - | - |
C2CD5 | p.R183H | Missense | SNP | 0.447 | 2 | - | - |
C6orf89 | p.Q61Afs*10 | Frame_Shift_Ins | INS | 0.188 | 2 | - | - |
C8orf33 | - | - | - | - | 3 | Gain | - |
C8orf34 | - | - | - | - | 3 | Gain | - |
C8orf37 | - | - | - | - | 3 | Gain | - |
C8orf44 | - | - | - | - | 3 | Gain | - |
C8orf48 | - | - | - | - | 3 | Gain | - |
C8orf58 | - | - | - | - | 3 | Gain | - |
C8orf59 | - | - | - | - | 3 | Gain | - |
C8orf74 | - | - | - | - | 3 | Gain | - |
C8orf76 | - | - | - | - | 3 | Gain | - |
C8orf82 | - | - | - | - | 3 | Gain | - |
C8orf86 | - | - | - | - | 3 | Gain | - |
C8orf88 | - | - | - | - | 3 | Gain | - |
C8orf89 | - | - | - | - | 3 | Gain | - |
C9orf66 | p.H283Pfs*22 | Frame_Shift_Ins | INS | 0.281 | 2 | - | - |
CA1 | - | - | - | - | 3 | Gain | - |
CA13 | - | - | - | - | 3 | Gain | - |
CA2 | - | - | - | - | 3 | Gain | - |
CA3 | - | - | - | - | 3 | Gain | - |
CA8 | - | - | - | - | 3 | Gain | - |
CABCOCO1 | - | - | - | - | 4 | Gain | - |
CABIN1 | p.G1834Afs*72 | Frame_Shift_Del | DEL | 0.375 | 2 | - | - |
CABLES1 | - | - | - | - | 3 | Gain | - |
CABYR | - | - | - | - | 3 | Gain | - |
CACNA1E | p.R1594H | Missense | SNP | 0.449 | 2 | - | - |
CACNA1I | p.P665L | Missense | SNP | 0.358 | 2 | - | - |
CACNB2 | p.T254M p.R608H | Missense Missense | SNP SNP | 0.249 0.758 | 4 | Gain | - |
CACUL1 | - | - | - | - | 4 | Gain | - |
CAD | p.R2064C | Missense | SNP | 0.383 | 2 | - | - |
CALB1 | - | - | - | - | 3 | Gain | - |
CALCRL | p.F16Lfs*2 | Frame_Shift_Del | DEL | 0.475 | 2 | - | - |
CALHM1 | - | - | - | - | 4 | Gain | - |
CALHM2 | - | - | - | - | 4 | Gain | - |
CALHM3 | - | - | - | - | 4 | Gain | - |
CALML3 | - | - | - | - | 4 | Gain | - |
CALML5 | - | - | - | - | 4 | Gain | - |
CALY | - | - | - | - | 3 | Gain | - |
CAMK1D | - | - | - | - | 4 | Gain | - |
CAMK2G | - | - | - | - | 4 | Gain | - |
CAMKK1 | p.R510* | Nonsense | SNP | 0.605 | 2 | - | - |
CAMSAP2 | p.R1179W | Missense | SNP | 0.481 | 2 | - | - |
CAMTA2 | p.P889Lfs*9 p.P547L | Frame_Shift_Del Missense | DEL SNP | 0.464 0.502 | 2 | - | - |
CANX | p.R274H | Missense | SNP | 0.510 | 2 | - | - |
CARD14 | p.E929K | Missense | SNP | 0.518 | 2 | - | - |
CARS | p.R453L | Missense | SNP | 0.485 | 2 | - | - |
CASC1 | p.I554M | Missense | SNP | 0.511 | 2 | - | - |
CASC10 | - | - | - | - | 4 | Gain | - |
CASP7 | - | - | - | - | 4 | Gain | - |
CASR | p.R220W | Missense | SNP | 0.483 | 2 | - | - |
CASS4 | p.R67H | Missense | SNP | 0.420 | 2 | - | - |
CASZ1 | p.T715M | Missense | SNP | 0.447 | 2 | - | - |
CATIP | p.A255T | Missense | SNP | 0.520 | 2 | - | - |
CBFA2T2 | p.E402D | Missense | SNP | 0.651 | 2 | - | - |
CBLN2 | - | - | - | - | 3 | Gain | - |
CC2D2B | - | - | - | - | 4 | Gain | - |
CCAR1 | p.Q596* | Nonsense | SNP | 0.094 | 4 | Gain | - |
CCAR2 | - | - | - | - | 3 | Gain | - |
CCBE1 | p.V92I | Missense | SNP | 0.394 | 3 | Gain | - |
CCDC102B | p.I270Nfs*31 | Frame_Shift_Ins | INS | 0.398 | 3 | Gain | - |
CCDC150 | p.S317Y p.R971Q | Missense Missense | SNP SNP | 0.550 0.508 | 2 | - | - |
CCDC166 | - | - | - | - | 3 | Gain | - |
CCDC168 | p.Q3471Tfs*12 p.N2569Kfs*26 | Frame_Shift_Ins Frame_Shift_Ins | INS INS | 0.292 0.280 | 2 | - | - |
CCDC172 | - | - | - | - | 4 | Gain | - |
CCDC178 | - | - | - | - | 3 | Gain | - |
CCDC186 | - | - | - | - | 4 | Gain | - |
CCDC191 | p.E82D | Missense | SNP | 0.533 | 2 | - | - |
CCDC25 | - | - | - | - | 3 | Gain | - |
CCDC3 | - | - | - | - | 4 | Gain | - |
CCDC6 | - | - | - | - | 4 | Gain | - |
CCDC68 | - | - | - | - | 3 | Gain | - |
CCDC7 | - | - | - | - | 4 | Gain | - |
CCDC74B | - | - | - | - | 1 | Loss | - |
CCDC83 | p.I184T | Missense | SNP | 0.628 | 2 | - | - |
CCDC96 | p.R524H | Missense | SNP | 0.480 | 2 | - | - |
CCER2 | p.E232del | In_Frame_Del | DEL | 0.410 | 2 | - | - |
CCNE2 | - | - | - | - | 3 | Gain | - |
CCNJ | - | - | - | - | 4 | Gain | - |
CCNY | - | - | - | - | 4 | Gain | - |
CCSER1 | p.F428Lfs*29 | Frame_Shift_Del | DEL | 0.241 | 2 | - | - |
CCSER2 | - | - | - | - | 4 | Gain | - |
CCT2 | p.R376C | Missense | SNP | 0.536 | 2 | - | - |
CD163L1 | p.P890L | Missense | SNP | 0.434 | 2 | - | - |
CD19 | p.X120_splice | Splice_Site | DEL | 0.515 | 2 | - | - |
CD226 | - | - | - | - | 3 | Gain | - |
CD79A | p.R131Gfs*61 | Frame_Shift_Del | DEL | 0.406 | 2 | - | - |
CDC123 | - | - | - | - | 4 | Gain | - |
CDC42EP4 | p.V144M | Missense | SNP | 0.436 | 2 | - | - |
CDCA2 | - | - | - | - | 3 | Gain | - |
CDH10 | p.E641Sfs*3 | Frame_Shift_Del | DEL | 0.325 | 2 | - | - |
CDH17 | p.S645Lfs*3 | Frame_Shift_Del | DEL | 0.350 | 3 | Gain | - |
CDH19 | - | - | - | - | 3 | Gain | - |
CDH2 | - | - | - | - | 3 | Gain | - |
CDH20 | - | - | - | - | 3 | Gain | - |
CDH23 | - | - | - | - | 4 | Gain | - |
CDH7 | p.R264Q p.G393E | Missense Missense | SNP SNP | 0.636 0.220 | 3 | Gain | - |
CDHR1 | - | - | - | - | 4 | Gain | - |
CDK1 | - | - | - | - | 4 | Gain | - |
CDK19 | p.S62L | Missense | SNP | 0.471 | 2 | - | - |
CDKN2B | p.L93Pfs*70 | Frame_Shift_Ins | INS | 0.270 | 2 | - | - |
CDNF | - | - | - | - | 4 | Gain | - |
CDS1 | p.F263Lfs*6 | Frame_Shift_Del | DEL | 0.513 | 2 | - | - |
CEBPD | - | - | - | - | 3 | Gain | - |
CELF2 | - | - | - | - | 4 | Gain | - |
CELF3 | p.V279I | Missense | SNP | 0.405 | 2 | - | - |
CELF4 | - | - | - | - | 3 | Gain | - |
CELSR2 | p.A1152V | Missense | SNP | 0.422 | 2 | - | - |
CELSR3 | p.R1336H | Missense | SNP | 0.455 | 2 | - | - |
CEP192 | p.R763C | Missense | SNP | 0.349 | 3 | Gain | - |
CEP250 | p.V728I | Missense | SNP | 0.534 | 2 | - | - |
CEP55 | - | - | - | - | 4 | Gain | - |
CEP76 | - | - | - | - | 3 | Gain | - |
CEP85 | p.T746I | Missense | SNP | 0.543 | 2 | - | - |
CETN1 | - | - | - | - | 3 | Gain | - |
CFAP43 | - | - | - | - | 4 | Gain | - |
CFAP45 | p.R403H | Missense | SNP | 0.549 | 2 | - | - |
CFAP46 | - | - | - | - | 3 | Gain | - |
CFAP53 | p.F148L | Missense | SNP | 0.659 | 3 | Gain | - |
CFAP58 | - | - | - | - | 4 | Gain | - |
CFAP70 | - | - | - | - | 4 | Gain | - |
CFTR | p.G1047D | Missense | SNP | 0.490 | 2 | - | - |
CH25H | - | - | - | - | 4 | Gain | - |
CH507-42P11.8 | p.R587Q | Missense | SNP | 0.534 | ND | ND | - |
CHAT | - | - | - | - | 4 | Gain | - |
CHCHD1 | - | - | - | - | 4 | Gain | - |
CHCHD7 | - | - | - | - | 3 | Gain | - |
CHD7 | p.T1133M | Missense | SNP | 0.603 | 3 | Gain | - |
CHIA | p.Q62* | Nonsense | SNP | 0.465 | 2 | - | - |
CHMP1B | - | - | - | - | 3 | Gain | - |
CHMP2A | p.C173G | Missense | SNP | 0.455 | 2 | - | - |
CHMP4C | - | - | - | - | 3 | Gain | - |
CHMP7 | - | - | - | - | 3 | Gain | - |
CHRAC1 | - | - | - | - | 3 | Gain | - |
CHRNA2 | - | - | - | - | 3 | Gain | - |
CHRNA6 | p.R363S p.Y220C | Missense Missense | SNP SNP | 0.325 0.642 | 3 | Gain | - |
CHRNB3 | - | - | - | - | 3 | Gain | - |
CHRND | p.R244H | Missense | SNP | 0.323 | 2 | - | - |
CHST15 | - | - | - | - | 4 | Gain | - |
CHST3 | - | - | - | - | 4 | Gain | - |
CHST5 | p.A150V | Missense | SNP | 0.554 | 2 | - | - |
CHST9 | - | - | - | - | 3 | Gain | - |
CHSY3 | p.T772Dfs*18 | Frame_Shift_Ins | INS | 0.289 | 2 | - | - |
CHUK | - | - | - | - | 4 | Gain | - |
CIDEA | - | - | - | - | 3 | Gain | - |
CILP2 | p.R336* | Nonsense | SNP | 0.500 | 2 | - | - |
CISD1 | - | - | - | - | 4 | Gain | - |
CLDN23 | - | - | - | - | 3 | Gain | - |
CLDN6 | p.A102T | Missense | SNP | 0.550 | 2 | - | - |
CLN8 | - | - | - | - | 3 | Gain | - |
CLOCK | p.L123* | Frame_Shift_Del | DEL | 0.465 | 2 | - | - |
CLP1 | p.R302H | Missense | SNP | 0.442 | 2 | - | - |
CLRN3 | - | - | - | - | 4 | Gain | - |
CLSTN3 | p.A640T | Missense | SNP | 0.389 | 2 | - | - |
CLU | - | - | - | - | 3 | Gain | - |
CLUL1 | - | - | - | - | 3 | Gain | - |
CLVS1 | - | - | - | - | 3 | Gain | - |
CNBD1 | - | - | - | - | 3 | Gain | - |
CNDP1 | - | - | - | - | 3 | Gain | - |
CNDP2 | - | - | - | - | 3 | Gain | - |
CNGA4 | p.G96D | Missense | SNP | 0.440 | 2 | - | - |
CNGB3 | - | - | - | - | 3 | Gain | - |
CNNM1 | - | - | - | - | 4 | Gain | - |
CNNM2 | - | - | - | - | 4 | Gain | - |
CNOT1 | p.R1929* | Nonsense | SNP | 0.461 | 2 | - | - |
CNOT10 | p.X754_splice | Splice_Site | SNP | 0.440 | 2 | - | - |
CNOT7 | - | - | - | - | 3 | Gain | - |
COG3 | p.V465I | Missense | SNP | 0.521 | 2 | - | - |
COL11A1 | p.V1658I | Missense | SNP | 0.484 | 2 | - | - |
COL13A1 | - | - | - | - | 4 | Gain | - |
COL14A1 | p.R846H | Missense | SNP | 0.622 | 3 | Gain | - |
COL17A1 | p.R177Q | Missense | SNP | 0.331 | 4 | Gain | - |
COL18A1 | p.P772Qfs*16 | Frame_Shift_Del | DEL | 0.397 | 2 | - | - |
COL21A1 | p.G632Rfs*24 | Frame_Shift_Ins | INS | 0.283 | 2 | - | - |
COL22A1 | p.P727L | Missense | SNP | 0.711 | 3 | Gain | - |
COL3A1 | p.K275Rfs*9 | Frame_Shift_Del | DEL | 0.426 | 2 | - | - |
COL6A2 | p.R734C | Missense | SNP | 0.500 | 2 | - | - |
COL6A3 | p.V1771Sfs*8 | Frame_Shift_Del | DEL | 0.442 | 2 | - | - |
COL6A6 | p.E1487G | Missense | SNP | 0.511 | 2 | - | - |
COL8A2 | p.P94Lfs*143 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
COLEC10 | - | - | - | - | 3 | Gain | - |
COLEC12 | - | - | - | - | 3 | Gain | - |
COMMD3 | - | - | - | - | 4 | Gain | - |
COMMD3-BMI1 | - | - | - | - | 4 | Gain | - |
COMMD5 | - | - | - | - | 3 | Gain | - |
COMP | p.P416L | Missense | SNP | 0.513 | 2 | - | - |
COMTD1 | - | - | - | - | 4 | Gain | - |
COPS5 | - | - | - | - | 3 | Gain | - |
COQ6 | p.P373L | Missense | SNP | 0.450 | 2 | - | - |
CORO7 | p.S433I | Missense | SNP | 0.625 | 2 | - | - |
COX15 | - | - | - | - | 4 | Gain | - |
COX6C | - | - | - | - | 3 | Gain | - |
CPA6 | p.L310I | Missense | SNP | 0.327 | 3 | Gain | - |
CPAMD8 | p.V1068Wfs*111 | Frame_Shift_Del | DEL | 0.549 | 2 | - | - |
CPEB3 | - | - | - | - | 4 | Gain | - |
CPLX4 | - | - | - | - | 3 | Gain | - |
CPN1 | - | - | - | - | 4 | Gain | - |
CPNE3 | - | - | - | - | 3 | Gain | - |
CPNE8 | p.V396Sfs*9 | Frame_Shift_Del | DEL | 0.367 | 2 | - | - |
CPQ | - | - | - | - | 3 | Gain | - |
CPS1 | p.K133N | Missense | SNP | 0.565 | 2 | - | - |
CPSF1 | - | - | - | - | 3 | Gain | - |
CPSF3 | p.E31K | Missense | SNP | 0.650 | 2 | - | - |
CPSF4 | p.R238W | Missense | SNP | 0.377 | 2 | - | - |
CPSF6 | p.V156Cfs*6 | Frame_Shift_Ins | INS | 0.333 | 2 | - | - |
CPXM2 | - | - | - | - | 4 | Gain | - |
CRAMP1 | p.R344H | Missense | SNP | 0.405 | 2 | - | - |
CREBBP | p.G101V | Missense | SNP | 0.516 | 2 | - | - |
CREM | - | - | - | - | 4 | Gain | - |
CRH | - | - | - | - | 3 | Gain | - |
CRISPLD1 | - | - | - | - | 3 | Gain | - |
CRTAC1 | - | - | - | - | 4 | Gain | - |
CRY2 | p.R362H | Missense | SNP | 0.503 | 2 | - | - |
CSGALNACT1 | - | - | - | - | 3 | Gain | - |
CSGALNACT2 | - | - | - | - | 3 | Gain | - |
CSMD1 | - | - | - | - | 3 | Gain | - |
CSMD3 | - | - | - | - | 3 | Gain | - |
CSNK1E | p.T235M | Missense | SNP | 0.430 | 2 | - | - |
CSPP1 | - | - | - | - | 3 | Gain | - |
CSRNP1 | p.G476D | Missense | SNP | 0.550 | 2 | - | - |
CSRP3 | p.R100H | Missense | SNP | 0.494 | 2 | - | - |
CST2 | p.R46H | Missense | SNP | 0.564 | 2 | - | - |
CSTF2T | - | - | - | - | 4 | Gain | - |
CTAGE1 | - | - | - | - | 3 | Gain | - |
CTBP2 | p.A602T | Missense | SNP | 0.316 | 4 | Gain | - |
CTDP1 | - | - | - | - | 3 | Gain | - |
CTHRC1 | - | - | - | - | 3 | Gain | - |
CTIF | - | - | - | - | 3 | Gain | - |
CTNNA3 | - | - | - | - | 4 | Gain | - |
CTNND1 | p.R274H | Missense | SNP | 0.461 | 2 | - | - |
CTNND2 | p.P524L | Missense | SNP | 0.449 | 2 | - | - |
CTSB | - | - | - | - | 3 | Gain | - |
CTSF | p.V474M | Missense | SNP | 0.429 | 2 | - | - |
CUBN | p.R3117H | Missense | SNP | 0.228 | 4 | Gain | - |
CUEDC2 | - | - | - | - | 4 | Gain | - |
CUL2 | - | - | - | - | 4 | Gain | - |
CUL3 | p.R128H | Missense | SNP | 0.424 | 2 | - | - |
CUTC | - | - | - | - | 4 | Gain | - |
CUZD1 | - | - | - | - | 4 | Gain | - |
CWC27 | p.V335* | Frame_Shift_Del | DEL | 0.388 | 2 | - | - |
CWF19L1 | - | - | - | - | 4 | Gain | - |
CXCL12 | - | - | - | - | 3 | Gain | - |
CXorf56 | p.A62V | Missense | SNP | 0.385 | ND | ND | - |
CXXC1 | - | - | - | - | 3 | Gain | - |
CYB5A | - | - | - | - | 3 | Gain | - |
CYC1 | - | - | - | - | 3 | Gain | - |
CYHR1 | - | - | - | - | 3 | Gain | - |
CYP11B1 | - | - | - | - | 3 | Gain | - |
CYP11B2 | - | - | - | - | 3 | Gain | - |
CYP17A1 | - | - | - | - | 4 | Gain | - |
CYP26A1 | - | - | - | - | 4 | Gain | - |
CYP26C1 | - | - | - | - | 4 | Gain | - |
CYP2C18 | - | - | - | - | 4 | Gain | - |
CYP2C19 | - | - | - | - | 4 | Gain | - |
CYP2C8 | - | - | - | - | 4 | Gain | - |
CYP2C9 | - | - | - | - | 4 | Gain | - |
CYP2E1 | - | - | - | - | 3 | Gain | - |
CYP4F8 | p.L385P | Missense | SNP | 0.434 | 2 | - | - |
CYP7A1 | - | - | - | - | 3 | Gain | - |
CYP7B1 | p.N131Ifs*4 | Frame_Shift_Del | DEL | 0.310 | 3 | Gain | - |
DBF4 | p.L409Afs*14 | Frame_Shift_Ins | INS | 0.293 | 2 | - | - |
DCAF13 | - | - | - | - | 3 | Gain | - |
DCAF4L2 | - | - | - | - | 3 | Gain | - |
DCC | - | - | - | - | 3 | Gain | - |
DCHS1 | p.R2892Q p.G2097D | Missense Missense | SNP SNP | 0.444 0.444 | 2 | - | - |
DCHS2 | p.S968R | Missense | SNP | 0.375 | 2 | - | - |
DCLRE1A | - | - | - | - | 4 | Gain | - |
DCLRE1C | - | - | - | - | 4 | Gain | - |
DCN | p.T151Nfs*9 | Frame_Shift_Ins | INS | 0.349 | 2 | - | - |
DCSTAMP | - | - | - | - | 3 | Gain | - |
DCTN6 | - | - | - | - | 3 | Gain | - |
DDHD2 | - | - | - | - | 3 | Gain | - |
DDIT4 | - | - | - | - | 4 | Gain | - |
DDX17 | p.R439H | Missense | SNP | 0.484 | 2 | - | - |
DDX21 | - | - | - | - | 4 | Gain | - |
DDX50 | - | - | - | - | 4 | Gain | - |
DDX52 | p.E518A | Missense | SNP | 0.433 | 2 | - | - |
DDX59 | p.N577Ifs*6 | Frame_Shift_Del | DEL | 0.349 | 2 | - | - |
DDX60L | p.Y1625H | Missense | SNP | 0.508 | 2 | - | - |
DECR1 | - | - | - | - | 3 | Gain | - |
DEFA4 | - | - | - | - | 3 | Gain | - |
DEFA5 | - | - | - | - | 3 | Gain | - |
DEFA6 | - | - | - | - | 3 | Gain | - |
DEFB1 | - | - | - | - | 3 | Gain | - |
DEFB103A | - | - | - | - | 3 | Gain | - |
DEFB103B | - | - | - | - | 3 | Gain | - |
DEFB104A | - | - | - | - | 3 | Gain | - |
DEFB104B | - | - | - | - | 3 | Gain | - |
DEFB105A | - | - | - | - | 3 | Gain | - |
DEFB105B | - | - | - | - | 3 | Gain | - |
DEFB106A | - | - | - | - | 3 | Gain | - |
DEFB106B | - | - | - | - | 3 | Gain | - |
DEFB107A | - | - | - | - | 3 | Gain | - |
DEFB107B | - | - | - | - | 3 | Gain | - |
DEFB134 | - | - | - | - | 3 | Gain | - |
DEFB135 | - | - | - | - | 3 | Gain | - |
DEFB136 | - | - | - | - | 3 | Gain | - |
DEFB4A | - | - | - | - | 3 | Gain | - |
DEFB4B | - | - | - | - | 3 | Gain | - |
DENND3 | - | - | - | - | 3 | Gain | - |
DEPP1 | - | - | - | - | 3 | Gain | - |
DEPTOR | - | - | - | - | 3 | Gain | - |
DERL1 | - | - | - | - | 3 | Gain | - |
DGAT1 | - | - | - | - | 3 | Gain | - |
DGKH | p.R273H | Missense | SNP | 0.397 | 2 | - | - |
DGKI | p.R791H | Missense | SNP | 0.449 | 2 | - | - |
DHRS12 | p.H120Y | Missense | SNP | 0.478 | 2 | - | - |
DHRS7C | p.R264H | Missense | SNP | 0.492 | 2 | - | - |
DHTKD1 | - | - | - | - | 4 | Gain | - |
DHX32 | - | - | - | - | 4 | Gain | - |
DIP2C | - | - | - | - | 4 | Gain | - |
DKK1 | - | - | - | - | 4 | Gain | - |
DKK4 | - | - | - | - | 3 | Gain | - |
DLC1 | - | - | - | - | 3 | Gain | - |
DLG5 | - | - | - | - | 4 | Gain | - |
DLGAP1 | - | - | - | - | 3 | Gain | - |
DLGAP2 | - | - | - | - | 3 | Gain | - |
DMBT1 | - | - | - | - | 4 | Gain | - |
DMD | p.N3378Tfs*24 | Frame_Shift_Del | DEL | 0.435 | ND | ND | - |
DMTN | - | - | - | - | 3 | Gain | - |
DNA2 | - | - | - | - | 4 | Gain | - |
DNAH5 | p.A244T | Missense | SNP | 0.507 | 2 | - | - |
DNAJB12 | - | - | - | - | 4 | Gain | - |
DNAJC1 | - | - | - | - | 4 | Gain | - |
DNAJC11 | p.R273* | Nonsense | SNP | 0.455 | 2 | - | - |
DNAJC12 | - | - | - | - | 4 | Gain | - |
DNAJC5B | - | - | - | - | 3 | Gain | - |
DNAJC9 | - | - | - | - | 4 | Gain | - |
DNMBP | - | - | - | - | 4 | Gain | - |
DNMT3B | p.R538H | Missense | SNP | 0.495 | 2 | - | - |
DNTT | - | - | - | - | 4 | Gain | - |
DOC2A | p.K312del | In_Frame_Del | DEL | 0.392 | 2 | - | - |
DOCK1 | - | - | - | - | 4 | Gain | - |
DOCK11 | p.Y2012* | Nonsense | SNP | 0.569 | ND | ND | - |
DOCK5 | - | - | - | - | 3 | Gain | - |
DOCK7 | p.P526L | Missense | SNP | 0.370 | 2 | - | - |
DOK1 | p.V175M | Missense | SNP | 0.655 | 2 | - | - |
DOK2 | - | - | - | - | 3 | Gain | - |
DOK6 | - | - | - | - | 3 | Gain | - |
DPCD | - | - | - | - | 4 | Gain | - |
DPRX | p.V95Sfs*7 | Frame_Shift_Del | DEL | 0.434 | 2 | - | - |
DPY19L4 | - | - | - | - | 3 | Gain | - |
DPYS | - | - | - | - | 3 | Gain | - |
DPYSL2 | p.F20Lfs*104 p.R481H | Frame_Shift_Del Missense | DEL SNP | 0.668 0.624 | 3 | Gain | - |
DPYSL4 | - | - | - | - | 3 | Gain | - |
DRGX | - | - | - | - | 3 | Gain | - |
DRICH1 | p.E198D | Missense | SNP | 0.487 | 2 | - | - |
DROSHA | p.R254H | Missense | SNP | 0.595 | 2 | - | - |
DSC1 | - | - | - | - | 3 | Gain | - |
DSC2 | - | - | - | - | 3 | Gain | - |
DSC3 | - | - | - | - | 3 | Gain | - |
DSCC1 | - | - | - | - | 3 | Gain | - |
DSEL | - | - | - | - | 3 | Gain | - |
DSG1 | - | - | - | - | 3 | Gain | - |
DSG2 | - | - | - | - | 3 | Gain | - |
DSG3 | - | - | - | - | 3 | Gain | - |
DSG4 | - | - | - | - | 3 | Gain | - |
DSP | p.R866C p.R1915C | Missense Missense | SNP SNP | 0.486 0.515 | 2 | - | - |
DSTYK | p.L732del | In_Frame_Del | DEL | 0.355 | 2 | - | - |
DTNA | p.A498Qfs*40 | Frame_Shift_Del | DEL | 0.604 | 3 | Gain | - |
DTX4 | p.G510Afs*35 | Frame_Shift_Del | DEL | 0.390 | 2 | - | - |
DUPD1 | - | - | - | - | 4 | Gain | - |
DUS3L | p.V440I | Missense | SNP | 0.439 | 2 | - | - |
DUSP13 | - | - | - | - | 4 | Gain | - |
DUSP26 | - | - | - | - | 3 | Gain | - |
DUSP4 | - | - | - | - | 3 | Gain | - |
DUSP5 | - | - | - | - | 4 | Gain | - |
DYDC1 | - | - | - | - | 4 | Gain | - |
DYDC2 | - | - | - | - | 4 | Gain | - |
DYM | - | - | - | - | 3 | Gain | - |
DYNAP | - | - | - | - | 3 | Gain | - |
DYNC1H1 | p.R2831H | Missense | SNP | 0.455 | 2 | - | - |
DYRK1A | p.X317_splice | Splice_Site | DEL | 0.457 | 2 | - | - |
E2F5 | - | - | - | - | 3 | Gain | - |
EBAG9 | - | - | - | - | 3 | Gain | - |
EBF2 | - | - | - | - | 3 | Gain | - |
EBF3 | - | - | - | - | 3 | Gain | - |
EBLN1 | - | - | - | - | 4 | Gain | - |
ECD | - | - | - | - | 4 | Gain | - |
ECHDC3 | - | - | - | - | 4 | Gain | - |
ECHS1 | - | - | - | - | 3 | Gain | - |
ECI1 | p.T268M | Missense | SNP | 0.579 | 2 | - | - |
EDRF1 | p.N302Mfs*47 | Frame_Shift_Del | DEL | 0.733 | 4 | Gain | - |
EEF1AKMT2 | - | - | - | - | 4 | Gain | - |
EEF1D | - | - | - | - | 3 | Gain | - |
EFCAB1 | - | - | - | - | 3 | Gain | - |
EFHC2 | p.E202D | Missense | SNP | 0.468 | ND | ND | - |
EFNB3 | p.Q331Rfs*39 | Frame_Shift_Del | DEL | 0.407 | 2 | - | - |
EFR3A | - | - | - | - | 3 | Gain | - |
EGR2 | - | - | - | - | 4 | Gain | - |
EGR3 | - | - | - | - | 3 | Gain | - |
EHBP1L1 | p.R50H | Missense | SNP | 0.485 | 2 | - | - |
EIF3A | - | - | - | - | 4 | Gain | - |
EIF3E | - | - | - | - | 3 | Gain | - |
EIF3H | - | - | - | - | 3 | Gain | - |
EIF4EBP1 | - | - | - | - | 3 | Gain | - |
EIF4EBP2 | - | - | - | - | 4 | Gain | - |
EIF5AL1 | - | - | - | - | 4 | Gain | - |
ELAC1 | - | - | - | - | 3 | Gain | - |
ELAVL2 | p.A333V | Missense | SNP | 0.377 | 2 | - | - |
ELF4 | p.Q341Rfs*30 | Frame_Shift_Del | DEL | 0.476 | ND | ND | - |
ELMO1 | p.G674R | Missense | SNP | 0.527 | 2 | - | - |
ELOA2 | - | - | - | - | 3 | Gain | - |
ELOA3 | - | - | - | - | 3 | Gain | - |
ELOA3B | - | - | - | - | 3 | Gain | - |
ELOA3D | - | - | - | - | 3 | Gain | - |
ELOC | - | - | - | - | 3 | Gain | - |
ELOVL3 | - | - | - | - | 4 | Gain | - |
ELOVL7 | p.R115C | Missense | SNP | 0.571 | 2 | - | - |
ELP2 | - | - | - | - | 3 | Gain | - |
ELP3 | - | - | - | - | 3 | Gain | - |
EMC2 | - | - | - | - | 3 | Gain | - |
EMILIN2 | - | - | - | - | 3 | Gain | - |
EML6 | p.A1888T | Missense | SNP | 0.493 | 2 | - | - |
EMX2 | - | - | - | - | 4 | Gain | - |
ENKUR | - | - | - | - | 4 | Gain | - |
ENO4 | p.Y584Tfs*31 p.R551C | Frame_Shift_Del Missense | DEL SNP | 0.197 0.223 | 4 | Gain | - |
ENOSF1 | - | - | - | - | 3 | Gain | - |
ENPP2 | - | - | - | - | 3 | Gain | - |
ENPP6 | p.R35H | Missense | SNP | 0.426 | 2 | - | - |
ENTPD1 | - | - | - | - | 4 | Gain | - |
ENTPD4 | - | - | - | - | 3 | Gain | - |
ENTPD6 | p.G444S | Missense | SNP | 0.507 | 2 | - | - |
ENTPD7 | - | - | - | - | 4 | Gain | - |
ENY2 | - | - | - | - | 3 | Gain | - |
EPB41L3 | - | - | - | - | 3 | Gain | - |
EPC1 | - | - | - | - | 4 | Gain | - |
EPG5 | - | - | - | - | 3 | Gain | - |
EPHA2 | p.T526M | Missense | SNP | 0.426 | 2 | - | - |
EPHX2 | - | - | - | - | 3 | Gain | - |
EPPIN | p.Y107C | Missense | SNP | 0.484 | 2 | - | - |
EPPK1 | - | - | - | - | 3 | Gain | - |
ERBIN | p.D727Ifs*9 p.K988Rfs*24 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.444 0.556 | 2 | - | - |
ERCC6 | - | - | - | - | 4 | Gain | - |
ERCC8 | p.A7T | Missense | SNP | 0.492 | 2 | - | - |
ERI1 | - | - | - | - | 3 | Gain | - |
ERICH1 | - | - | - | - | 3 | Gain | - |
ERICH3 | p.N557I | Missense | SNP | 0.421 | 2 | - | - |
ERICH5 | - | - | - | - | 3 | Gain | - |
ERLIN1 | - | - | - | - | 4 | Gain | - |
ERLIN2 | - | - | - | - | 3 | Gain | - |
ESCO1 | - | - | - | - | 3 | Gain | - |
ESCO2 | - | - | - | - | 3 | Gain | - |
ESPL1 | p.A35V | Missense | SNP | 0.529 | 2 | - | - |
ESRP1 | - | - | - | - | 3 | Gain | - |
ETV1 | p.T139Hfs*24 | Frame_Shift_Ins | INS | 0.215 | 2 | - | - |
EVC2 | p.T699M | Missense | SNP | 0.557 | 2 | - | - |
EVI2A | p.A150V | Missense | SNP | 0.498 | 2 | - | - |
EXOC6 | - | - | - | - | 4 | Gain | - |
EXOSC1 | - | - | - | - | 4 | Gain | - |
EXOSC4 | - | - | - | - | 3 | Gain | - |
EXT1 | - | - | - | - | 3 | Gain | - |
EXTL1 | p.R31H | Missense | SNP | 0.473 | 2 | - | - |
EXTL3 | - | - | - | - | 3 | Gain | - |
EYA1 | - | - | - | - | 3 | Gain | - |
EZH1 | p.A379V | Missense | SNP | 0.455 | 2 | - | - |
F13A1 | p.P565L | Missense | SNP | 0.500 | 2 | - | - |
FAAP100 | p.L21Pfs*12 | Frame_Shift_Ins | INS | 0.270 | 2 | - | - |
FABP12 | - | - | - | - | 3 | Gain | - |
FABP4 | - | - | - | - | 3 | Gain | - |
FABP5 | - | - | - | - | 3 | Gain | - |
FABP9 | - | - | - | - | 3 | Gain | - |
FAM107B | - | - | - | - | 4 | Gain | - |
FAM110B | - | - | - | - | 3 | Gain | - |
FAM111B | p.R94H | Missense | SNP | 0.434 | 2 | - | - |
FAM118B | p.L217F | Missense | SNP | 0.489 | 2 | - | - |
FAM129A | p.X392_splice | Splice_Site | SNP | 0.408 | 2 | - | - |
FAM135A | p.S1485L | Missense | SNP | 0.541 | 2 | - | - |
FAM135B | p.K1101N | Missense | SNP | 0.312 | 3 | Gain | - |
FAM13C | - | - | - | - | 4 | Gain | - |
FAM149B1 | - | - | - | - | 4 | Gain | - |
FAM160B1 | - | - | - | - | 4 | Gain | - |
FAM160B2 | - | - | - | - | 3 | Gain | - |
FAM166A | p.L210R | Missense | SNP | 0.590 | 2 | - | - |
FAM167A | - | - | - | - | 3 | Gain | - |
FAM170B | - | - | - | - | 3 | Gain | - |
FAM171A1 | - | - | - | - | 4 | Gain | - |
FAM175A | p.N303Ifs*17 | Frame_Shift_Del | DEL | 0.529 | ND | ND | - |
FAM185A | - | - | - | - | 1 | Loss | - |
FAM186B | p.E667K | Missense | SNP | 0.516 | 2 | - | - |
FAM193A | p.V231Sfs*81 | Frame_Shift_Del | DEL | 0.374 | 2 | - | - |
FAM204A | - | - | - | - | 4 | Gain | - |
FAM208B | - | - | - | - | 4 | Gain | - |
FAM210A | - | - | - | - | 3 | Gain | - |
FAM241B | - | - | - | - | 4 | Gain | - |
FAM24A | - | - | - | - | 4 | Gain | - |
FAM24B | - | - | - | - | 4 | Gain | - |
FAM45A | - | - | - | - | 4 | Gain | - |
FAM46B | p.R288W | Missense | SNP | 0.250 | ND | ND | - |
FAM47B | p.A360T | Missense | SNP | 0.503 | ND | ND | - |
FAM49B | - | - | - | - | 3 | Gain | - |
FAM53B | - | - | - | - | 4 | Gain | - |
FAM69C | - | - | - | - | 3 | Gain | - |
FAM71E2 | p.P40L | Missense | SNP | 0.500 | 2 | - | - |
FAM83A | - | - | - | - | 3 | Gain | - |
FAM83H | - | - | - | - | 3 | Gain | - |
FAM84B | - | - | - | - | 3 | Gain | - |
FAM86B1 | - | - | - | - | 3 | Gain | - |
FAM91A1 | - | - | - | - | 3 | Gain | - |
FAM92A | - | - | - | - | 3 | Gain | - |
FAM98A | p.K174Nfs*2 | Frame_Shift_Del | DEL | 0.371 | 2 | - | - |
FANK1 | - | - | - | - | 4 | Gain | - |
FAS | - | - | - | - | 4 | Gain | - |
FAT1 | p.D2158Rfs*20 | Frame_Shift_Ins | INS | 0.320 | 2 | - | - |
FBH1 | - | - | - | - | 4 | Gain | - |
FBLN2 | p.R1180C | Missense | SNP | 0.261 | 2 | - | - |
FBN3 | p.G1577Vfs*72 | Frame_Shift_Del | DEL | 0.413 | 2 | - | - |
FBXL15 | - | - | - | - | 4 | Gain | - |
FBXL19 | p.L381Yfs*86 | Frame_Shift_Del | DEL | 0.354 | 2 | - | - |
FBXL6 | - | - | - | - | 3 | Gain | - |
FBXO15 | - | - | - | - | 3 | Gain | - |
FBXO16 | - | - | - | - | 3 | Gain | - |
FBXO25 | - | - | - | - | 3 | Gain | - |
FBXO32 | - | - | - | - | 3 | Gain | - |
FBXO43 | - | - | - | - | 3 | Gain | - |
FBXW4 | - | - | - | - | 4 | Gain | - |
FDFT1 | - | - | - | - | 3 | Gain | - |
FECH | - | - | - | - | 3 | Gain | - |
FER1L6 | p.I975T | Missense | SNP | 0.252 | 3 | Gain | - |
FFAR4 | - | - | - | - | 4 | Gain | - |
FGD4 | p.R431H | Missense | SNP | 0.489 | 2 | - | - |
FGF17 | - | - | - | - | 3 | Gain | - |
FGF20 | - | - | - | - | 3 | Gain | - |
FGF5 | p.G148Efs*45 | Frame_Shift_Del | DEL | 0.333 | 2 | - | - |
FGF6 | p.V127M | Missense | SNP | 0.470 | 2 | - | - |
FGF8 | - | - | - | - | 4 | Gain | - |
FGFBP3 | - | - | - | - | 4 | Gain | - |
FGFR1 | - | - | - | - | 3 | Gain | - |
FGFR2 | - | - | - | - | 4 | Gain | - |
FGL1 | - | - | - | - | 3 | Gain | - |
FHAD1 | p.S26T | Missense | SNP | 0.453 | 2 | - | - |
FHOD3 | - | - | - | - | 3 | Gain | - |
FLI1 | p.M348L | Missense | SNP | 0.459 | 2 | - | - |
FLNA | p.A1188V | Missense | SNP | 0.572 | ND | ND | - |
FLOT2 | p.A400V | Missense | SNP | 0.436 | 2 | - | - |
FLT4 | p.P619Lfs*20 p.P30L | Frame_Shift_Del Missense | DEL SNP | 0.487 0.474 | 2 | - | - |
FNTA | - | - | - | - | 3 | Gain | - |
FO681492.1 | - | - | - | - | 3 | Gain | - |
FOXH1 | - | - | - | - | 3 | Gain | - |
FOXI1 | p.R143C | Missense | SNP | 0.439 | 2 | - | - |
FOXI2 | p.A77T | Missense | SNP | 0.188 | 4 | Gain | - |
FOXP1 | p.L414* | Frame_Shift_Del | DEL | 0.410 | 2 | - | - |
FRA10AC1 | p.R232Efs*96 | Frame_Shift_Del | DEL | 0.135 | 4 | Gain | - |
FRAT1 | - | - | - | - | 4 | Gain | - |
FRAT2 | - | - | - | - | 4 | Gain | - |
FREM1 | p.R507H | Missense | SNP | 0.421 | 2 | - | - |
FRG2B | - | - | - | - | 3 | Gain | - |
FRMD4A | - | - | - | - | 4 | Gain | - |
FRMPD2 | - | - | - | - | 3 | Gain | - |
FSBP | - | - | - | - | 3 | Gain | - |
FSCN3 | p.R285C | Missense | SNP | 0.472 | 2 | - | - |
FSIP2 | p.V5823Yfs*24 | Frame_Shift_Del | DEL | 0.467 | 2 | - | - |
FUOM | - | - | - | - | 3 | Gain | - |
FUT10 | - | - | - | - | 3 | Gain | - |
FUT11 | - | - | - | - | 4 | Gain | - |
FUT5 | p.R14C | Missense | SNP | 0.491 | 2 | - | - |
FXYD4 | - | - | - | - | 3 | Gain | - |
FZD3 | - | - | - | - | 3 | Gain | - |
FZD5 | p.L241M | Missense | SNP | 0.386 | 2 | - | - |
FZD6 | - | - | - | - | 3 | Gain | - |
FZD8 | - | - | - | - | 4 | Gain | - |
G6PC2 | p.R79Q | Missense | SNP | 0.456 | 2 | - | - |
GABRB1 | p.A363T | Missense | SNP | 0.434 | 2 | - | - |
GABRB3 | p.L170Pfs*11 | Frame_Shift_Ins | INS | 0.358 | 2 | - | - |
GAD2 | - | - | - | - | 4 | Gain | - |
GALNT1 | - | - | - | - | 3 | Gain | - |
GALR1 | - | - | - | - | 3 | Gain | - |
GAPT | p.P101L | Missense | SNP | 0.572 | 2 | - | - |
GAREM1 | - | - | - | - | 3 | Gain | - |
GATA3 | - | - | - | - | 4 | Gain | - |
GATA4 | - | - | - | - | 3 | Gain | - |
GATA6 | - | - | - | - | 3 | Gain | - |
GATAD2A | p.A580T | Missense | SNP | 0.269 | 2 | - | - |
GBF1 | - | - | - | - | 4 | Gain | - |
GBGT1 | p.R243H | Missense | SNP | 0.486 | 2 | - | - |
GDAP1 | - | - | - | - | 3 | Gain | - |
GDAP1L1 | p.E199K | Missense | SNP | 0.496 | 2 | - | - |
GDF10 | - | - | - | - | 3 | Gain | - |
GDF2 | - | - | - | - | 3 | Gain | - |
GDF5 | p.R325C | Missense | SNP | 0.410 | 2 | - | - |
GDF6 | - | - | - | - | 3 | Gain | - |
GDI2 | - | - | - | - | 4 | Gain | - |
GEM | p.R56Q | Missense | SNP | 0.262 | 3 | Gain | - |
GEMIN2 | p.K146Nfs*24 | Frame_Shift_Del | DEL | 0.583 | 2 | - | - |
GFRA1 | - | - | - | - | 4 | Gain | - |
GFRA2 | - | - | - | - | 3 | Gain | - |
GGH | - | - | - | - | 3 | Gain | - |
GGN | p.A115V | Missense | SNP | 0.540 | 2 | - | - |
GHDC | p.E205K | Missense | SNP | 0.420 | 2 | - | - |
GHITM | - | - | - | - | 4 | Gain | - |
GIMAP8 | p.R81H | Missense | SNP | 0.530 | 2 | - | - |
GINS4 | - | - | - | - | 3 | Gain | - |
GIPC1 | p.P50Lfs*48 | Frame_Shift_Del | DEL | 0.391 | 2 | - | - |
GJD4 | - | - | - | - | 4 | Gain | - |
GLI4 | - | - | - | - | 3 | Gain | - |
GLOD4 | p.R50Q | Missense | SNP | 0.569 | 2 | - | - |
GLRX3 | - | - | - | - | 3 | Gain | - |
GLTSCR1 | p.E1438K | Missense | SNP | 0.632 | ND | ND | - |
GLUD1 | - | - | - | - | 4 | Gain | - |
GLYCTK | p.A481T | Missense | SNP | 0.561 | 2 | - | - |
GLYR1 | p.R381Afs*15 | Frame_Shift_Ins | INS | 0.265 | 2 | - | - |
GM2A | p.R169H | Missense | SNP | 0.449 | 2 | - | - |
GMEB1 | p.A499V | Missense | SNP | 0.497 | 2 | - | - |
GML | - | - | - | - | 3 | Gain | - |
GNAL | - | - | - | - | 3 | Gain | - |
GNB1L | p.V108M | Missense | SNP | 0.414 | 2 | - | - |
GNMT | p.D272N | Missense | SNP | 0.450 | 2 | - | - |
GNRH1 | - | - | - | - | 3 | Gain | - |
GOLGA4 | p.E727D | Missense | SNP | 0.547 | 2 | - | - |
GOLGA7 | - | - | - | - | 3 | Gain | - |
GOLGA7B | - | - | - | - | 4 | Gain | - |
GOLPH3 | p.T148M | Missense | SNP | 0.443 | 2 | - | - |
GOT1 | - | - | - | - | 4 | Gain | - |
GOT1L1 | - | - | - | - | 3 | Gain | - |
GPAA1 | p.X389_splice | Splice_Site | SNP | 0.680 | 3 | Gain | - |
GPAM | - | - | - | - | 4 | Gain | - |
GPAT4 | - | - | - | - | 3 | Gain | - |
GPIHBP1 | - | - | - | - | 3 | Gain | - |
GPR158 | - | - | - | - | 4 | Gain | - |
GPR20 | - | - | - | - | 3 | Gain | - |
GPR26 | - | - | - | - | 4 | Gain | - |
GPR34 | p.S62Cfs*23 | Frame_Shift_Del | DEL | 0.417 | ND | ND | - |
GPR85 | p.A311V | Missense | SNP | 0.292 | 2 | - | - |
GPRASP2 | p.T88M | Missense | SNP | 0.475 | ND | ND | - |
GPRIN2 | - | - | - | - | 3 | Gain | - |
GPRIN3 | p.I138L | Missense | SNP | 0.494 | 2 | - | - |
GPT | - | - | - | - | 3 | Gain | - |
GRB10 | p.A166T | Missense | SNP | 0.419 | 2 | - | - |
GREB1L | - | - | - | - | 3 | Gain | - |
GRHL2 | - | - | - | - | 3 | Gain | - |
GRID1 | p.A243V | Missense | SNP | 0.349 | 4 | Gain | - |
GRINA | - | - | - | - | 3 | Gain | - |
GRK5 | - | - | - | - | 4 | Gain | - |
GRP | - | - | - | - | 3 | Gain | - |
GSDMC | - | - | - | - | 3 | Gain | - |
GSDMD | - | - | - | - | 3 | Gain | - |
GSK3A | p.V133M | Missense | SNP | 0.458 | 2 | - | - |
GSR | - | - | - | - | 3 | Gain | - |
GSTO1 | - | - | - | - | 4 | Gain | - |
GSTO2 | - | - | - | - | 4 | Gain | - |
GTF2E2 | - | - | - | - | 3 | Gain | - |
GTPBP4 | - | - | - | - | 4 | Gain | - |
GUCY1B3 | p.L472I | Missense | SNP | 0.345 | ND | ND | - |
H2AFY2 | - | - | - | - | 4 | Gain | - |
HABP2 | - | - | - | - | 4 | Gain | - |
HACD1 | - | - | - | - | 4 | Gain | - |
HADHB | p.K474N | Missense | SNP | 0.516 | 2 | - | - |
HAS2 | - | - | - | - | 3 | Gain | - |
HAUS1 | - | - | - | - | 3 | Gain | - |
HBE1 | p.A139V | Missense | SNP | 0.445 | 2 | - | - |
HCFC1 | p.R524W | Missense | SNP | 0.472 | ND | ND | - |
HCN3 | p.R502H | Missense | SNP | 0.467 | 2 | - | - |
HDAC5 | p.I933Lfs*14 | Frame_Shift_Del | DEL | 0.420 | 2 | - | - |
HDGF | p.S218Lfs*? | Frame_Shift_Del | DEL | 0.460 | 2 | - | - |
HDHD2 | - | - | - | - | 3 | Gain | - |
HDHD3 | p.Q92H | Missense | SNP | 0.440 | 2 | - | - |
HDLBP | p.R163H | Missense | SNP | 0.333 | 2 | - | - |
HEATR6 | p.Q693H | Missense | SNP | 0.286 | 2 | - | - |
HECTD1 | p.I2041Lfs*27 | Frame_Shift_Del | DEL | 0.300 | 2 | - | - |
HECTD2 | p.X170_splice | Splice_Site | SNP | 0.122 | 4 | Gain | - |
HELLS | - | - | - | - | 4 | Gain | - |
HELZ | p.A149T | Missense | SNP | 0.515 | 2 | - | - |
HERC4 | - | - | - | - | 4 | Gain | - |
HEY1 | - | - | - | - | 3 | Gain | - |
HFE | p.L122M | Missense | SNP | 0.530 | 2 | - | - |
HGH1 | - | - | - | - | 3 | Gain | - |
HGSNAT | - | - | - | - | 3 | Gain | - |
HHEX | - | - | - | - | 4 | Gain | - |
HHLA1 | - | - | - | - | 3 | Gain | - |
HIC2 | p.T549M | Missense | SNP | 0.394 | 2 | - | - |
HIF1AN | - | - | - | - | 4 | Gain | - |
HIST1H4C | p.T72I | Missense | SNP | 0.457 | 2 | - | - |
HK1 | p.T605M | Missense | SNP | 0.181 | 4 | Gain | - |
HKDC1 | - | - | - | - | 4 | Gain | - |
HLA-F | p.A203T | Missense | SNP | 0.533 | 2 | - | - |
HMBOX1 | p.R35H | Missense | SNP | 0.329 | 3 | Gain | - |
HMSD | - | - | - | - | 3 | Gain | - |
HMX2 | - | - | - | - | 4 | Gain | - |
HMX3 | - | - | - | - | 4 | Gain | - |
HNF4G | - | - | - | - | 3 | Gain | - |
HNRNPF | - | - | - | - | 3 | Gain | - |
HNRNPH3 | - | - | - | - | 4 | Gain | - |
HNRNPK | p.R268W | Missense | SNP | 0.371 | 2 | - | - |
HOGA1 | - | - | - | - | 4 | Gain | - |
HOOK3 | - | - | - | - | 3 | Gain | - |
HOXA3 | p.Q302Pfs*42 | Frame_Shift_Ins | INS | 0.228 | 2 | - | - |
HPCA | p.R118Q | Missense | SNP | 0.383 | 2 | - | - |
HPS1 | - | - | - | - | 4 | Gain | - |
HPS6 | - | - | - | - | 4 | Gain | - |
HPSE2 | - | - | - | - | 4 | Gain | - |
HR | - | - | - | - | 3 | Gain | - |
HRH4 | - | - | - | - | 3 | Gain | - |
HS6ST2 | p.R94C | Missense | SNP | 0.478 | ND | ND | - |
HSBP1L1 | - | - | - | - | 3 | Gain | - |
HSF1 | - | - | - | - | 3 | Gain | - |
HSPA12A | - | - | - | - | 4 | Gain | - |
HSPA14 | - | - | - | - | 4 | Gain | - |
HTR3A | p.S178L | Missense | SNP | 0.397 | 2 | - | - |
HTR7 | - | - | - | - | 4 | Gain | - |
HTRA1 | - | - | - | - | 4 | Gain | - |
HTRA4 | - | - | - | - | 3 | Gain | - |
HTT | p.R416H | Missense | SNP | 0.514 | 2 | - | - |
HUNK | p.E596K | Missense | SNP | 0.517 | 2 | - | - |
ICAM5 | p.R434H | Missense | SNP | 0.423 | 2 | - | - |
IDE | - | - | - | - | 4 | Gain | - |
IDH1 | p.R132H | Missense | SNP | 0.281 | 2 | - | - |
IDI1 | - | - | - | - | 4 | Gain | - |
IDI2 | - | - | - | - | 4 | Gain | - |
IDO1 | - | - | - | - | 3 | Gain | - |
IDO2 | - | - | - | - | 3 | Gain | - |
IER3IP1 | - | - | - | - | 3 | Gain | - |
IFIT1 | - | - | - | - | 4 | Gain | - |
IFIT1B | - | - | - | - | 4 | Gain | - |
IFIT2 | - | - | - | - | 4 | Gain | - |
IFIT3 | - | - | - | - | 4 | Gain | - |
IFIT5 | - | - | - | - | 4 | Gain | - |
IFNL2 | p.F137L p.R152W | Missense Missense | SNP SNP | 0.057 0.633 | 2 | - | - |
IGF2BP1 | p.G541R | Missense | SNP | 0.358 | 2 | - | - |
IKBKB | - | - | - | - | 3 | Gain | - |
IKZF5 | - | - | - | - | 4 | Gain | - |
IL15RA | - | - | - | - | 4 | Gain | - |
IL17RC | p.W167R | Missense | SNP | 0.560 | 2 | - | - |
IL17RD | p.A453V | Missense | SNP | 0.447 | 2 | - | - |
IL2RA | - | - | - | - | 4 | Gain | - |
IL31RA | p.G534Efs*7 | Frame_Shift_Del | DEL | 0.384 | 2 | - | - |
IL7 | - | - | - | - | 3 | Gain | - |
ILKAP | p.S202Qfs*52 | Frame_Shift_Del | DEL | 0.425 | 2 | - | - |
IMPA1 | - | - | - | - | 3 | Gain | - |
IMPA2 | - | - | - | - | 3 | Gain | - |
IMPACT | - | - | - | - | 3 | Gain | - |
IMPAD1 | - | - | - | - | 3 | Gain | - |
INA | - | - | - | - | 4 | Gain | - |
INO80C | - | - | - | - | 3 | Gain | - |
INPP5A | - | - | - | - | 3 | Gain | - |
INPP5F | - | - | - | - | 4 | Gain | - |
INSM2 | p.H309N | Missense | SNP | 0.545 | 2 | - | - |
INSYN2 | - | - | - | - | 4 | Gain | - |
INTS10 | - | - | - | - | 3 | Gain | - |
INTS5 | p.S1010del | In_Frame_Del | DEL | 0.512 | 2 | - | - |
INTS6L | p.R305Q | Missense | SNP | 0.465 | ND | ND | - |
INTS8 | - | - | - | - | 3 | Gain | - |
INTS9 | - | - | - | - | 3 | Gain | - |
INVS | p.N1061Kfs*20 | Frame_Shift_Ins | INS | 0.317 | 2 | - | - |
IPMK | - | - | - | - | 4 | Gain | - |
IQANK1 | - | - | - | - | 3 | Gain | - |
IRGC | p.V89I | Missense | SNP | 0.515 | 2 | - | - |
IRS1 | p.R998Vfs*13 | Frame_Shift_Del | DEL | 0.398 | 2 | - | - |
ISL2 | p.G173E | Missense | SNP | 0.448 | 2 | - | - |
ISM1 | p.A412V | Missense | SNP | 0.378 | 2 | - | - |
ITGA11 | p.N1031S | Missense | SNP | 0.461 | 2 | - | - |
ITGA8 | - | - | - | - | 4 | Gain | - |
ITGB1 | - | - | - | - | 4 | Gain | - |
ITIH2 | - | - | - | - | 4 | Gain | - |
ITIH5 | - | - | - | - | 4 | Gain | - |
ITPRIP | - | - | - | - | 4 | Gain | - |
JAK1 | p.P430Rfs*2 p.R997W p.R108Q | Frame_Shift_Del Missense Missense | DEL SNP SNP | 0.520 0.413 0.386 | 2 | - | - |
JAKMIP3 | - | - | - | - | 3 | Gain | - |
JCAD | - | - | - | - | 4 | Gain | - |
JMJD1C | - | - | - | - | 4 | Gain | - |
JPH1 | - | - | - | - | 3 | Gain | - |
JPH2 | p.A595V | Missense | SNP | 0.552 | 2 | - | - |
JRK | - | - | - | - | 3 | Gain | - |
KANK3 | p.D792N | Missense | SNP | 0.418 | 2 | - | - |
KAT6A | - | - | - | - | 3 | Gain | - |
KAT6B | - | - | - | - | 4 | Gain | - |
KATNAL2 | - | - | - | - | 3 | Gain | - |
KAZALD1 | - | - | - | - | 4 | Gain | - |
KBTBD11 | - | - | - | - | 3 | Gain | - |
KBTBD11-OT1 | - | - | - | - | 3 | Gain | - |
KBTBD13 | p.T162M | Missense | SNP | 0.397 | 2 | - | - |
KCNB2 | - | - | - | - | 3 | Gain | - |
KCNC1 | p.K457Rfs*20 | Frame_Shift_Del | DEL | 0.421 | 2 | - | - |
KCNC4 | p.R413W | Missense | SNP | 0.575 | 2 | - | - |
KCNG2 | - | - | - | - | 3 | Gain | - |
KCNH2 | p.W497* p.R472H | Nonsense Missense | SNP SNP | 0.384 0.461 | 2 | - | - |
KCNH5 | p.V58I | Missense | SNP | 0.440 | 2 | - | - |
KCNIP2 | - | - | - | - | 4 | Gain | - |
KCNJ4 | p.P433L | Missense | SNP | 0.475 | 2 | - | - |
KCNK18 | - | - | - | - | 4 | Gain | - |
KCNK9 | - | - | - | - | 3 | Gain | - |
KCNMA1 | - | - | - | - | 4 | Gain | - |
KCNQ3 | - | - | - | - | 3 | Gain | - |
KCNS2 | - | - | - | - | 3 | Gain | - |
KCNU1 | - | - | - | - | 3 | Gain | - |
KCNV1 | - | - | - | - | 3 | Gain | - |
KCTD1 | - | - | - | - | 3 | Gain | - |
KCTD10 | p.R308Q | Missense | SNP | 0.500 | 2 | - | - |
KCTD18 | p.S301R | Missense | SNP | 0.492 | 2 | - | - |
KCTD8 | p.L209R | Missense | SNP | 0.260 | 2 | - | - |
KCTD9 | - | - | - | - | 3 | Gain | - |
KDM2B | p.K26Rfs*81 | Frame_Shift_Del | DEL | 0.399 | 2 | - | - |
KDM4C | p.Y1011Mfs*16 | Frame_Shift_Del | DEL | 0.427 | 2 | - | - |
KDM5A | p.R674Q | Missense | SNP | 0.353 | 2 | - | - |
KDSR | - | - | - | - | 3 | Gain | - |
KHDRBS3 | - | - | - | - | 3 | Gain | - |
KIAA1161 | p.R673H | Missense | SNP | 0.518 | ND | ND | - |
KIAA1217 | p.R976Gfs*16 p.A233T p.T1868A | Frame_Shift_Del Missense Missense | DEL SNP SNP | 0.715 0.271 0.268 | 4 | Gain | - |
KIAA1328 | - | - | - | - | 3 | Gain | - |
KIAA1522 | p.A247T | Missense | SNP | 0.579 | 2 | - | - |
KIAA1549 | p.L283* | Frame_Shift_Del | DEL | 0.310 | 2 | - | - |
KIAA1614 | p.P50Qfs*15 | Frame_Shift_Del | DEL | 0.421 | 2 | - | - |
KIF11 | - | - | - | - | 4 | Gain | - |
KIF13A | p.A364T | Missense | SNP | 0.583 | 2 | - | - |
KIF13B | - | - | - | - | 3 | Gain | - |
KIF1BP | - | - | - | - | 4 | Gain | - |
KIF20B | - | - | - | - | 4 | Gain | - |
KIF21B | p.V33I | Missense | SNP | 0.389 | 2 | - | - |
KIF27 | p.A1067V | Missense | SNP | 0.466 | 2 | - | - |
KIF5B | - | - | - | - | 4 | Gain | - |
KIFC2 | - | - | - | - | 3 | Gain | - |
KIN | - | - | - | - | 4 | Gain | - |
KLF10 | - | - | - | - | 3 | Gain | - |
KLF6 | - | - | - | - | 4 | Gain | - |
KLHL1 | p.G35Efs*31 | Frame_Shift_Del | DEL | 0.476 | 2 | - | - |
KLHL14 | - | - | - | - | 3 | Gain | - |
KLHL23 | p.C126Lfs*2 | Frame_Shift_Ins | INS | 0.305 | 2 | - | - |
KLHL29 | p.Y227C | Missense | SNP | 0.436 | 2 | - | - |
KLHL38 | - | - | - | - | 3 | Gain | - |
KLHL42 | p.C399Vfs*44 | Frame_Shift_Del | DEL | 0.427 | 2 | - | - |
KLLN | - | - | - | - | 4 | Gain | - |
KMT2B | p.P1101Lfs*81 p.R1400C | Frame_Shift_Del Missense | DEL SNP | 0.458 0.401 | 2 | - | - |
KMT2C | p.S143Vfs*3 p.P1838H | Frame_Shift_Del Missense | DEL SNP | 0.354 0.626 | 2 | - | - |
KMT2D | p.P2354Lfs*30 p.R5086* | Frame_Shift_Del Nonsense | DEL SNP | 0.490 0.367 | 2 | - | - |
KMT2E | p.M1354* | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
KNDC1 | p.Q1704* | Nonsense | SNP | 0.746 | 3 | Gain | - |
KRBOX1 | p.Q77Sfs*6 | Frame_Shift_Del | DEL | 0.195 | 2 | - | - |
KRT34 | p.R376W | Missense | SNP | 0.512 | 2 | - | - |
KYAT3 | p.I153T | Missense | SNP | 0.411 | 2 | - | - |
L3MBTL4 | - | - | - | - | 3 | Gain | - |
LACTB2 | - | - | - | - | 3 | Gain | - |
LAMA1 | - | - | - | - | 3 | Gain | - |
LAMA3 | p.P1658Lfs*91 p.R1841H | Frame_Shift_Del Missense | DEL SNP | 0.263 0.623 | 3 | Gain | - |
LAMC3 | p.R152H | Missense | SNP | 0.444 | 2 | - | - |
LAPTM4B | - | - | - | - | 3 | Gain | - |
LARP4B | p.T163Hfs*47 | Frame_Shift_Del | DEL | 0.302 | 4 | Gain | - |
LBX1 | - | - | - | - | 4 | Gain | - |
LCLAT1 | p.N222Mfs*21 | Frame_Shift_Del | DEL | 0.603 | 2 | - | - |
LCOR | - | - | - | - | 4 | Gain | - |
LCT | p.A952T | Missense | SNP | 0.453 | 2 | - | - |
LDB1 | - | - | - | - | 4 | Gain | - |
LDB3 | - | - | - | - | 4 | Gain | - |
LDLRAD4 | - | - | - | - | 3 | Gain | - |
LEFTY2 | p.P286Rfs*41 | Frame_Shift_Del | DEL | 0.473 | 2 | - | - |
LEP | p.G8R | Missense | SNP | 0.474 | 2 | - | - |
LEPROTL1 | - | - | - | - | 3 | Gain | - |
LETM2 | - | - | - | - | 3 | Gain | - |
LGI1 | - | - | - | - | 4 | Gain | - |
LGI3 | - | - | - | - | 3 | Gain | - |
LGR4 | p.R304C | Missense | SNP | 0.488 | 2 | - | - |
LHPP | - | - | - | - | 4 | Gain | - |
LHX2 | p.T374Pfs*5 | Frame_Shift_Del | DEL | 0.445 | 2 | - | - |
LIG3 | p.S241Rfs*65 | Frame_Shift_Del | DEL | 0.448 | 2 | - | - |
LIG4 | p.D868Y | Missense | SNP | 0.529 | 2 | - | - |
LIMA1 | p.T537Lfs*38 | Frame_Shift_Del | DEL | 0.421 | 2 | - | - |
LIMCH1 | p.P998S | Missense | SNP | 0.333 | 2 | - | - |
LIPA | - | - | - | - | 4 | Gain | - |
LIPE | p.E943D | Missense | SNP | 0.461 | 2 | - | - |
LIPF | - | - | - | - | 4 | Gain | - |
LIPG | - | - | - | - | 3 | Gain | - |
LIPJ | - | - | - | - | 4 | Gain | - |
LIPK | - | - | - | - | 4 | Gain | - |
LIPM | - | - | - | - | 4 | Gain | - |
LIPN | - | - | - | - | 4 | Gain | - |
LMAN1 | - | - | - | - | 3 | Gain | - |
LONRF1 | - | - | - | - | 3 | Gain | - |
LOXHD1 | - | - | - | - | 3 | Gain | - |
LOXL2 | - | - | - | - | 3 | Gain | - |
LOXL3 | p.R566H p.R148C | Missense Missense | SNP SNP | 0.542 0.559 | 2 | - | - |
LOXL4 | p.E431D | Missense | SNP | 0.284 | 4 | Gain | - |
LPA | p.R1464Q | Missense | SNP | 0.545 | 2 | - | - |
LPAR5 | p.R78C | Missense | SNP | 0.565 | 2 | - | - |
LPIN2 | - | - | - | - | 3 | Gain | - |
LPL | - | - | - | - | 3 | Gain | - |
LRBA | p.R1992Q | Missense | SNP | 0.443 | 2 | - | - |
LRIT1 | - | - | - | - | 4 | Gain | - |
LRIT2 | - | - | - | - | 4 | Gain | - |
LRMDA | - | - | - | - | 4 | Gain | - |
LRP1 | p.R1628H | Missense | SNP | 0.463 | 2 | - | - |
LRP12 | - | - | - | - | 3 | Gain | - |
LRP1B | p.G1820E | Missense | SNP | 0.475 | 2 | - | - |
LRRC14 | - | - | - | - | 3 | Gain | - |
LRRC18 | - | - | - | - | 3 | Gain | - |
LRRC20 | p.A121V | Missense | SNP | 0.408 | 4 | Gain | - |
LRRC23 | - | - | - | - | 2 | - | LRRC23--AC093512.2 |
LRRC24 | - | - | - | - | 3 | Gain | - |
LRRC27 | - | - | - | - | 3 | Gain | - |
LRRC30 | - | - | - | - | 3 | Gain | - |
LRRC3B | p.T201Lfs*17 | Frame_Shift_Del | DEL | 0.472 | 2 | - | - |
LRRC46 | p.P282H | Missense | SNP | 0.434 | 2 | - | - |
LRRC6 | - | - | - | - | 3 | Gain | - |
LRRC69 | - | - | - | - | 3 | Gain | - |
LRRCC1 | - | - | - | - | 3 | Gain | - |
LRRIQ1 | p.P1237H | Missense | SNP | 0.396 | 2 | - | - |
LRRIQ3 | p.K244Nfs*17 | Frame_Shift_Del | DEL | 0.366 | 2 | - | - |
LRRTM3 | - | - | - | - | 4 | Gain | - |
LSM1 | - | - | - | - | 3 | Gain | - |
LTBP2 | p.V1543I | Missense | SNP | 0.368 | 2 | - | - |
LY6D | - | - | - | - | 3 | Gain | - |
LY6E | - | - | - | - | 3 | Gain | - |
LY6H | - | - | - | - | 3 | Gain | - |
LY6K | - | - | - | - | 3 | Gain | - |
LY6L | - | - | - | - | 3 | Gain | - |
LY96 | - | - | - | - | 3 | Gain | - |
LYN | - | - | - | - | 3 | Gain | - |
LYNX1 | - | - | - | - | 3 | Gain | - |
LYNX1-SLURP2 | - | - | - | - | 3 | Gain | - |
LYPD2 | - | - | - | - | 3 | Gain | - |
LYPLA1 | - | - | - | - | 3 | Gain | - |
LYST | p.R3449Q | Missense | SNP | 0.422 | 2 | - | - |
LYZL1 | p.G102S | Missense | SNP | 0.218 | 4 | Gain | - |
LYZL2 | - | - | - | - | 4 | Gain | - |
LZTR1 | p.A392V | Missense | SNP | 0.527 | 2 | - | - |
LZTS1 | - | - | - | - | 3 | Gain | - |
LZTS2 | - | - | - | - | 4 | Gain | - |
MACF1 | p.R4914H | Missense | SNP | 0.471 | 2 | - | - |
MAF1 | - | - | - | - | 3 | Gain | - |
MAFA | - | - | - | - | 3 | Gain | - |
MAGED2 | p.X362_splice | Splice_Site | SNP | 0.476 | ND | ND | - |
MAK16 | - | - | - | - | 3 | Gain | - |
MAL2 | - | - | - | - | 3 | Gain | - |
MALRD1 | - | - | - | - | 4 | Gain | - |
MALT1 | - | - | - | - | 3 | Gain | - |
MAOA | p.R454* | Nonsense | SNP | 0.500 | ND | ND | - |
MAP1S | p.S595* | Frame_Shift_Ins | INS | 0.385 | 2 | - | - |
MAP3K10 | p.P504Lfs*10 | Frame_Shift_Del | DEL | 0.524 | 2 | - | - |
MAP3K8 | - | - | - | - | 4 | Gain | - |
MAP4K3 | p.G190Vfs*16 | Frame_Shift_Del | DEL | 0.476 | 2 | - | - |
MAPK15 | - | - | - | - | 3 | Gain | - |
MAPK4 | p.S386L | Missense | SNP | 0.215 | 3 | Gain | - |
MAPK8 | - | - | - | - | 3 | Gain | - |
MAPK8IP2 | p.R461* | Nonsense | SNP | 0.510 | 2 | - | - |
MAPRE2 | p.A45V | Missense | SNP | 0.301 | 3 | Gain | - |
MARCH5 | - | - | - | - | 4 | Gain | - |
MARCH8 | - | - | - | - | 3 | Gain | - |
MARCKS | p.A328Sfs*14 | Frame_Shift_Ins | INS | 0.289 | 2 | - | - |
MARVELD1 | - | - | - | - | 4 | Gain | - |
MASP1 | p.S272N | Missense | SNP | 0.423 | 2 | - | - |
MAST1 | p.G1280D | Missense | SNP | 0.528 | 2 | - | - |
MASTL | - | - | - | - | 4 | Gain | - |
MAT1A | - | - | - | - | 4 | Gain | - |
MATN2 | - | - | - | - | 3 | Gain | - |
MAZ | p.F14Lfs*34 | Frame_Shift_Ins | INS | 0.173 | 2 | - | - |
MBD1 | - | - | - | - | 3 | Gain | - |
MBD2 | - | - | - | - | 3 | Gain | - |
MBL2 | - | - | - | - | 4 | Gain | - |
MBOAT4 | - | - | - | - | 3 | Gain | - |
MBP | - | - | - | - | 3 | Gain | - |
MBTPS1 | p.G751R | Missense | SNP | 0.426 | 2 | - | - |
MC2R | - | - | - | - | 3 | Gain | - |
MC4R | - | - | - | - | 3 | Gain | - |
MC5R | - | - | - | - | 3 | Gain | - |
MCCC1 | p.A670V | Missense | SNP | 0.470 | 2 | - | - |
MCHR2 | p.R140* | Nonsense | SNP | 0.608 | 2 | - | - |
MCM10 | - | - | - | - | 4 | Gain | - |
MCM3AP | p.R906C | Missense | SNP | 0.437 | 2 | - | - |
MCM4 | p.T629Qfs*18 | Frame_Shift_Del | DEL | 0.347 | 3 | Gain | - |
MCM5 | p.R114Q | Missense | SNP | 0.429 | 2 | - | - |
MCMBP | - | - | - | - | 4 | Gain | - |
MCMDC2 | - | - | - | - | 3 | Gain | - |
MCPH1 | p.T468Pfs*32 | Frame_Shift_Del | DEL | 0.304 | 3 | Gain | - |
MCTP1 | p.F877Ifs*4 | Frame_Shift_Ins | INS | 0.273 | 2 | - | - |
MCU | - | - | - | - | 4 | Gain | - |
MDH1B | p.V475I | Missense | SNP | 0.527 | 2 | - | - |
MDN1 | p.E2692* | Frame_Shift_Ins | INS | 0.274 | 2 | - | - |
ME2 | - | - | - | - | 3 | Gain | - |
MED30 | - | - | - | - | 3 | Gain | - |
MEIG1 | - | - | - | - | 4 | Gain | - |
MEP1B | - | - | - | - | 3 | Gain | - |
MEST | p.R167Q | Missense | SNP | 0.415 | 2 | - | - |
METTL4 | - | - | - | - | 3 | Gain | - |
METTL7A | p.R93M | Missense | SNP | 0.529 | 2 | - | - |
METTL9 | p.L110M | Missense | SNP | 0.470 | 2 | - | - |
MEX3B | p.Y55Rfs*21 | Frame_Shift_Del | DEL | 0.368 | 2 | - | - |
MEX3C | - | - | - | - | 3 | Gain | - |
MFHAS1 | - | - | - | - | 3 | Gain | - |
MFSD1 | p.R58W | Missense | SNP | 0.444 | 2 | - | - |
MFSD13A | - | - | - | - | 4 | Gain | - |
MFSD3 | - | - | - | - | 3 | Gain | - |
MFSD4B | p.C202Vfs*4 | Frame_Shift_Del | DEL | 0.389 | 2 | - | - |
MGMT | - | - | - | - | 3 | Gain | - |
MIB1 | - | - | - | - | 3 | Gain | - |
MICAL1 | p.G115R | Missense | SNP | 0.450 | 2 | - | - |
MICAL3 | p.R1405Gfs*33 | Frame_Shift_Del | DEL | 0.564 | 2 | - | - |
MICALCL | p.S51Afs*49 p.R261Q | Frame_Shift_Del Missense | DEL SNP | 0.476 0.602 | ND | ND | - |
MICU1 | - | - | - | - | 4 | Gain | - |
MICU3 | - | - | - | - | 3 | Gain | - |
MIER2 | p.D492N | Missense | SNP | 0.506 | 2 | - | - |
MINDY3 | - | - | - | - | 4 | Gain | - |
MINPP1 | - | - | - | - | 4 | Gain | - |
MISP | p.G116R | Missense | SNP | 0.438 | 2 | - | - |
MKI67 | p.D2147Qfs*29 | Frame_Shift_Ins | INS | 0.240 | 4 | Gain | - |
MKX | - | - | - | - | 4 | Gain | - |
MLC1 | p.L217M | Missense | SNP | 0.493 | 2 | - | - |
MLLT10 | - | - | - | - | 4 | Gain | - |
MLLT3 | p.R556C | Missense | SNP | 0.436 | 2 | - | - |
MLXIP | p.R214C p.A498T | Missense Missense | SNP SNP | 0.516 0.607 | 2 | - | - |
MMP16 | - | - | - | - | 3 | Gain | - |
MMP21 | - | - | - | - | 4 | Gain | - |
MMRN2 | - | - | - | - | 4 | Gain | - |
MMS19 | - | - | - | - | 4 | Gain | - |
MOCOS | - | - | - | - | 3 | Gain | - |
MORN4 | - | - | - | - | 4 | Gain | - |
MOS | - | - | - | - | 3 | Gain | - |
MPP7 | - | - | - | - | 4 | Gain | - |
MPPE1 | p.E83Gfs*40 | Frame_Shift_Ins | INS | 0.289 | 3 | Gain | - |
MRC1 | - | - | - | - | 4 | Gain | - |
MRGPRF | p.A97V | Missense | SNP | 0.484 | 2 | - | - |
MRO | - | - | - | - | 3 | Gain | - |
MROH1 | - | - | - | - | 3 | Gain | - |
MROH5 | - | - | - | - | 3 | Gain | - |
MROH6 | - | - | - | - | 3 | Gain | - |
MROH8 | p.L976I | Missense | SNP | 0.444 | 2 | - | - |
MRPL13 | - | - | - | - | 3 | Gain | - |
MRPL15 | - | - | - | - | 3 | Gain | - |
MRPL43 | - | - | - | - | 4 | Gain | - |
MRPS16 | - | - | - | - | 4 | Gain | - |
MRPS28 | - | - | - | - | 3 | Gain | - |
MSC | - | - | - | - | 3 | Gain | - |
MSMB | - | - | - | - | 3 | Gain | - |
MSR1 | - | - | - | - | 3 | Gain | - |
MSRA | - | - | - | - | 3 | Gain | - |
MSRB2 | - | - | - | - | 4 | Gain | - |
MSS51 | - | - | - | - | 4 | Gain | - |
MST1R | p.V898M | Missense | SNP | 0.392 | 2 | - | - |
MTA1 | p.R682C | Missense | SNP | 0.436 | 2 | - | - |
MTBP | - | - | - | - | 3 | Gain | - |
MTCL1 | - | - | - | - | 3 | Gain | - |
MTDH | - | - | - | - | 3 | Gain | - |
MTERF3 | - | - | - | - | 3 | Gain | - |
MTFR1 | - | - | - | - | 3 | Gain | - |
MTG1 | - | - | - | - | 3 | Gain | - |
MTMR7 | - | - | - | - | 3 | Gain | - |
MTMR9 | - | - | - | - | 3 | Gain | - |
MTPAP | - | - | - | - | 4 | Gain | - |
MTSS1 | - | - | - | - | 3 | Gain | - |
MTSS1L | p.G560Afs*34 | Frame_Shift_Del | DEL | 0.472 | 2 | - | - |
MTUS1 | - | - | - | - | 3 | Gain | - |
MUC16 | p.R12249H | Missense | SNP | 0.415 | 2 | - | - |
MUC5AC | p.M5088I | Missense | SNP | 0.520 | 2 | - | - |
MXI1 | - | - | - | - | 4 | Gain | - |
MXRA8 | p.R301Gfs*107 | Frame_Shift_Del | DEL | 0.512 | 2 | - | - |
MYADM | p.A189V | Missense | SNP | 0.511 | 2 | - | - |
MYBL1 | - | - | - | - | 3 | Gain | - |
MYC | - | - | - | - | 3 | Gain | - |
MYCBP2 | p.G3497* | Nonsense | SNP | 0.293 | 2 | - | - |
MYCN | p.A220D | Missense | SNP | 0.076 | 2 | - | - |
MYEOV | p.W272Gfs*66 | Frame_Shift_Del | DEL | 0.536 | 2 | - | - |
MYH10 | p.Q886R | Missense | SNP | 0.500 | 2 | - | - |
MYH9 | p.L812I | Missense | SNP | 0.574 | 2 | - | - |
MYL1 | p.E165D | Missense | SNP | 0.471 | 2 | - | - |
MYL12A | - | - | - | - | 3 | Gain | - |
MYL12B | - | - | - | - | 3 | Gain | - |
MYL7 | p.Q79R | Missense | SNP | 0.410 | 2 | - | - |
MYLK | p.P21H | Missense | SNP | 0.238 | 2 | - | - |
MYO1G | p.R37C | Missense | SNP | 0.478 | 2 | - | - |
MYO3A | - | - | - | - | 4 | Gain | - |
MYO5A | p.A695T | Missense | SNP | 0.486 | 2 | - | - |
MYO5B | - | - | - | - | 3 | Gain | - |
MYO7B | p.P107L | Missense | SNP | 0.379 | 2 | - | - |
MYOF | p.I1430V | Missense | SNP | 0.104 | 4 | Gain | - |
MYOM1 | - | - | - | - | 3 | Gain | - |
MYOM2 | - | - | - | - | 3 | Gain | - |
MYOM3 | p.E1430K | Missense | SNP | 0.340 | 2 | - | - |
MYOZ1 | - | - | - | - | 4 | Gain | - |
MYPN | p.I891* | Frame_Shift_Del | DEL | 0.261 | 4 | Gain | - |
MZT2B | - | - | - | - | 1 | Loss | - |
NANOS1 | - | - | - | - | 4 | Gain | - |
NAP1L5 | p.A32V | Missense | SNP | 0.388 | 2 | - | - |
NAPG | - | - | - | - | 3 | Gain | - |
NAPRT | - | - | - | - | 3 | Gain | - |
NARS | p.V536M | Missense | SNP | 0.339 | 3 | Gain | - |
NAT1 | - | - | - | - | 3 | Gain | - |
NAT2 | - | - | - | - | 3 | Gain | - |
NAV2 | p.P29Rfs*11 | Frame_Shift_Del | DEL | 0.254 | 2 | - | - |
NBN | - | - | - | - | 3 | Gain | - |
NCALD | - | - | - | - | 3 | Gain | - |
NCKIPSD | p.F631del | In_Frame_Del | DEL | 0.542 | 2 | - | - |
NCOA2 | p.V1419M | Missense | SNP | 0.281 | 3 | Gain | - |
NCOA4 | - | - | - | - | 3 | Gain | - |
NDC80 | p.T571M | Missense | SNP | 0.639 | 3 | Gain | - |
NDRG1 | - | - | - | - | 3 | Gain | - |
NDST2 | - | - | - | - | 4 | Gain | - |
NDUFAF6 | - | - | - | - | 3 | Gain | - |
NDUFB8 | - | - | - | - | 4 | Gain | - |
NDUFB9 | - | - | - | - | 3 | Gain | - |
NDUFS7 | p.A187T | Missense | SNP | 0.476 | 2 | - | - |
NDUFV2 | - | - | - | - | 3 | Gain | - |
NEBL | - | - | - | - | 4 | Gain | - |
NECAB1 | - | - | - | - | 3 | Gain | - |
NEDD4L | p.N156Mfs*51 | Frame_Shift_Del | DEL | 0.684 | 3 | Gain | - |
NEFL | - | - | - | - | 3 | Gain | - |
NEFM | - | - | - | - | 3 | Gain | - |
NEIL2 | - | - | - | - | 3 | Gain | - |
NEK1 | p.D1179Y | Missense | SNP | 0.489 | 2 | - | - |
NEK4 | p.R743W | Missense | SNP | 0.498 | 2 | - | - |
NET1 | - | - | - | - | 4 | Gain | - |
NETO1 | - | - | - | - | 3 | Gain | - |
NEURL1 | - | - | - | - | 4 | Gain | - |
NEURL1B | p.R533Q | Missense | SNP | 0.531 | 2 | - | - |
NEURL4 | p.L1256Cfs*12 | Frame_Shift_Del | DEL | 0.408 | 2 | - | - |
NEUROD6 | p.K83Rfs*35 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
NEUROG3 | - | - | - | - | 4 | Gain | - |
NFATC1 | - | - | - | - | 3 | Gain | - |
NFE2 | p.R300Q | Missense | SNP | 0.400 | 2 | - | - |
NFKB2 | - | - | - | - | 4 | Gain | - |
NHLRC2 | - | - | - | - | 4 | Gain | - |
NHSL2 | p.S123L | Missense | SNP | 0.283 | ND | ND | - |
NIPAL2 | - | - | - | - | 3 | Gain | - |
NKAIN3 | - | - | - | - | 3 | Gain | - |
NKX1-2 | - | - | - | - | 4 | Gain | - |
NKX2-3 | - | - | - | - | 4 | Gain | - |
NKX2-6 | - | - | - | - | 3 | Gain | - |
NKX2-8 | p.Q116H | Missense | SNP | 0.408 | 2 | - | - |
NKX3-1 | - | - | - | - | 3 | Gain | - |
NKX6-2 | - | - | - | - | 3 | Gain | - |
NKX6-3 | - | - | - | - | 3 | Gain | - |
NLRC5 | p.R1500W | Missense | SNP | 0.443 | 2 | - | - |
NLRP2 | p.R587Q | Missense | SNP | 0.483 | 2 | - | - |
NLRP8 | p.E619G | Missense | SNP | 0.503 | 2 | - | - |
NMT2 | - | - | - | - | 4 | Gain | - |
NOC3L | - | - | - | - | 4 | Gain | - |
NODAL | - | - | - | - | 4 | Gain | - |
NOL4 | - | - | - | - | 3 | Gain | - |
NOLC1 | - | - | - | - | 4 | Gain | - |
NOTCH1 | p.Q462* | Nonsense | SNP | 0.492 | 2 | - | - |
NOV | - | - | - | - | 3 | Gain | - |
NOVA1 | p.K210N | Missense | SNP | 0.362 | 2 | - | - |
NPBWR1 | - | - | - | - | 3 | Gain | - |
NPBWR2 | p.R243Q | Missense | SNP | 0.440 | 2 | - | - |
NPC1 | - | - | - | - | 3 | Gain | - |
NPFFR1 | - | - | - | - | 4 | Gain | - |
NPM2 | - | - | - | - | 3 | Gain | - |
NPM3 | - | - | - | - | 4 | Gain | - |
NPRL3 | p.Y531H | Missense | SNP | 0.462 | 2 | - | - |
NPS | - | - | - | - | 4 | Gain | - |
NPY4R | - | - | - | - | 3 | Gain | - |
NPY4R2 | - | - | - | - | 3 | Gain | - |
NR2F1 | p.N263D | Missense | SNP | 0.476 | 2 | - | - |
NR3C2 | p.V618A | Missense | SNP | 0.418 | 2 | - | - |
NRAP | - | - | - | - | 4 | Gain | - |
NRBF2 | - | - | - | - | 4 | Gain | - |
NRBP2 | - | - | - | - | 3 | Gain | - |
NRG1 | p.E79* | Nonsense | SNP | 0.600 | 3 | Gain | - |
NRG3 | - | - | - | - | 4 | Gain | - |
NRK | p.Q410H p.Q809R | Missense Missense | SNP SNP | 0.422 0.480 | ND | ND | - |
NRP1 | - | - | - | - | 4 | Gain | - |
NSD1 | p.M1531Cfs*43 | Frame_Shift_Del | DEL | 0.406 | 2 | - | - |
NSD3 | - | - | - | - | 3 | Gain | - |
NSMAF | - | - | - | - | 3 | Gain | - |
NSMCE2 | - | - | - | - | 3 | Gain | - |
NSMCE4A | - | - | - | - | 4 | Gain | - |
NSUN6 | - | - | - | - | 4 | Gain | - |
NT5C2 | - | - | - | - | 4 | Gain | - |
NTNG2 | p.G144S | Missense | SNP | 0.510 | 2 | - | - |
NTRK1 | p.R347H | Missense | SNP | 0.549 | 2 | - | - |
NUDCD1 | - | - | - | - | 3 | Gain | - |
NUDT13 | - | - | - | - | 4 | Gain | - |
NUDT18 | - | - | - | - | 3 | Gain | - |
NUDT5 | - | - | - | - | 4 | Gain | - |
NUGGC | - | - | - | - | 3 | Gain | - |
NUP133 | p.K968del | In_Frame_Del | DEL | 0.447 | 2 | - | - |
NXPH4 | p.G210Afs*166 | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
OAT | - | - | - | - | 4 | Gain | - |
OBSCN | p.G2909E | Missense | SNP | 0.580 | 2 | - | - |
OC90 | - | - | - | - | 3 | Gain | - |
ODF1 | - | - | - | - | 3 | Gain | - |
OGA | - | - | - | - | 4 | Gain | - |
OGDHL | p.R758W | Missense | SNP | 0.244 | 4 | Gain | - |
OIT3 | - | - | - | - | 4 | Gain | - |
OLAH | - | - | - | - | 4 | Gain | - |
ONECUT2 | - | - | - | - | 3 | Gain | - |
OPALIN | - | - | - | - | 4 | Gain | - |
OPLAH | - | - | - | - | 3 | Gain | - |
OPN4 | - | - | - | - | 4 | Gain | - |
OPRK1 | - | - | - | - | 3 | Gain | - |
OPTN | - | - | - | - | 4 | Gain | - |
OR13A1 | - | - | - | - | 3 | Gain | - |
OR13C3 | p.A149T | Missense | SNP | 0.475 | 2 | - | - |
OR13H1 | p.R298W | Missense | SNP | 0.483 | ND | ND | - |
OR1A2 | p.R122* | Nonsense | SNP | 0.538 | 2 | - | - |
OR1S2 | p.I26T | Missense | SNP | 0.438 | 2 | - | - |
OR2J2 | p.N6Mfs*21 | Frame_Shift_Del | DEL | 0.491 | 2 | - | - |
OR4C12 | p.R258C | Missense | SNP | 0.474 | 2 | - | - |
OR4D6 | p.T241M | Missense | SNP | 0.500 | 2 | - | - |
OR4D9 | p.S116C | Missense | SNP | 0.427 | 2 | - | - |
OR51B5 | p.M63I | Missense | SNP | 0.532 | 2 | - | - |
OR6C75 | p.R221W | Missense | SNP | 0.445 | 2 | - | - |
OR6N1 | p.R165C | Missense | SNP | 0.528 | 2 | - | - |
OR7G2 | p.Y280H | Missense | SNP | 0.484 | 2 | - | - |
OR8K3 | p.F311Lfs*? | Frame_Shift_Del | DEL | 0.409 | 2 | - | - |
OSBPL1A | - | - | - | - | 3 | Gain | - |
OSGIN2 | - | - | - | - | 3 | Gain | - |
OSR2 | - | - | - | - | 3 | Gain | - |
OTUD1 | - | - | - | - | 4 | Gain | - |
OTUD6B | - | - | - | - | 3 | Gain | - |
OXR1 | - | - | - | - | 3 | Gain | - |
P2RX5 | p.Y338C | Missense | SNP | 0.533 | 2 | - | - |
P2RX6 | p.G63Afs*39 | Frame_Shift_Del | DEL | 0.357 | 2 | - | - |
P3H2 | p.K430Sfs*6 | Frame_Shift_Del | DEL | 0.496 | 2 | - | - |
P4HA1 | - | - | - | - | 4 | Gain | - |
P4HTM | p.L416Cfs*6 | Frame_Shift_Del | DEL | 0.417 | 2 | - | - |
PABPC1 | - | - | - | - | 3 | Gain | - |
PAG1 | - | - | - | - | 3 | Gain | - |
PALD1 | - | - | - | - | 4 | Gain | - |
PANK1 | - | - | - | - | 4 | Gain | - |
PAOX | - | - | - | - | 3 | Gain | - |
PAPSS2 | - | - | - | - | 4 | Gain | - |
PARD3 | - | - | - | - | 4 | Gain | - |
PARD3B | p.R932G | Missense | SNP | 0.469 | 2 | - | - |
PARD6G | - | - | - | - | 3 | Gain | - |
PARG | - | - | - | - | 4 | Gain | - |
PARP10 | - | - | - | - | 3 | Gain | - |
PAX2 | - | - | - | - | 4 | Gain | - |
PAX7 | p.A259V | Missense | SNP | 0.447 | 2 | - | - |
PBK | - | - | - | - | 3 | Gain | - |
PBLD | - | - | - | - | 4 | Gain | - |
PBX1 | p.G124R | Missense | SNP | 0.389 | 2 | - | - |
PC | p.R453Q | Missense | SNP | 0.403 | 2 | - | - |
PCBD1 | - | - | - | - | 4 | Gain | - |
PCDH12 | p.L685Yfs*7 | Frame_Shift_Del | DEL | 0.428 | 2 | - | - |
PCDH15 | - | - | - | - | 4 | Gain | - |
PCDHA6 | p.R428W | Missense | SNP | 0.392 | 2 | - | - |
PCDHB1 | p.P147T | Missense | SNP | 0.319 | 2 | - | - |
PCDHB16 | p.I142Yfs*7 | Frame_Shift_Del | DEL | 0.377 | 2 | - | - |
PCDHGA3 | p.A578V | Missense | SNP | 0.475 | 2 | - | - |
PCGF5 | - | - | - | - | 4 | Gain | - |
PCGF6 | - | - | - | - | 4 | Gain | - |
PCK1 | p.I612Rfs*5 | Frame_Shift_Ins | INS | 0.310 | 2 | - | - |
PCLO | p.L2443Vfs*15 p.S3436G p.S1052L | Frame_Shift_Ins Missense Missense | INS SNP SNP | 0.294 0.453 0.454 | 2 | - | - |
PCM1 | - | - | - | - | 3 | Gain | - |
PCMTD1 | - | - | - | - | 3 | Gain | - |
PCNX1 | p.E466K | Missense | SNP | 0.457 | 2 | - | - |
PCSK1N | p.A31Rfs*7 | Frame_Shift_Del | DEL | 0.387 | ND | ND | - |
PCSK9 | p.R93H | Missense | SNP | 0.484 | 2 | - | - |
PCYOX1 | p.R484C | Missense | SNP | 0.497 | 2 | - | - |
PDCD11 | - | - | - | - | 4 | Gain | - |
PDCD4 | - | - | - | - | 4 | Gain | - |
PDE5A | p.H617Y | Missense | SNP | 0.422 | 2 | - | - |
PDE6C | - | - | - | - | 4 | Gain | - |
PDE7A | - | - | - | - | 3 | Gain | - |
PDGFRL | - | - | - | - | 3 | Gain | - |
PDLIM1 | - | - | - | - | 4 | Gain | - |
PDLIM2 | - | - | - | - | 3 | Gain | - |
PDLIM4 | p.R16H | Missense | SNP | 0.375 | 2 | - | - |
PDP1 | - | - | - | - | 3 | Gain | - |
PDSS1 | - | - | - | - | 4 | Gain | - |
PDX1 | p.S231P | Missense | SNP | 0.233 | 2 | - | - |
PDZD2 | p.K104Qfs*38 | Frame_Shift_Ins | INS | 0.307 | 2 | - | - |
PDZD3 | p.G92* | Nonsense | SNP | 0.400 | 2 | - | - |
PDZD7 | - | - | - | - | 4 | Gain | - |
PDZD8 | - | - | - | - | 4 | Gain | - |
PEBP4 | - | - | - | - | 3 | Gain | - |
PEG3 | p.S403L | Missense | SNP | 0.510 | 2 | - | - |
PENK | - | - | - | - | 3 | Gain | - |
PER2 | p.A1049T p.V368M | Missense Missense | SNP SNP | 0.506 0.479 | 2 | - | - |
PEX2 | - | - | - | - | 3 | Gain | - |
PEX5 | p.R241W | Missense | SNP | 0.125 | 2 | - | - |
PFKFB3 | - | - | - | - | 4 | Gain | - |
PFKP | p.R265Gfs*2 p.I320V | Frame_Shift_Del Missense | DEL SNP | 0.199 0.703 | 4 | Gain | - |
PGAM1 | - | - | - | - | 4 | Gain | - |
PGAP2 | p.R314* | Nonsense | SNP | 0.429 | 2 | - | - |
PHF13 | p.A145T | Missense | SNP | 0.485 | 2 | - | - |
PHF20L1 | - | - | - | - | 3 | Gain | - |
PHF21A | p.P652Lfs*104 | Frame_Shift_Del | DEL | 0.550 | 2 | - | - |
PHKG2 | p.R71W | Missense | SNP | 0.509 | 2 | - | - |
PHLPP1 | - | - | - | - | 3 | Gain | - |
PHYH | - | - | - | - | 4 | Gain | - |
PHYHIP | - | - | - | - | 3 | Gain | - |
PHYHIPL | - | - | - | - | 4 | Gain | - |
PI15 | - | - | - | - | 3 | Gain | - |
PI4K2A | - | - | - | - | 4 | Gain | - |
PIAS2 | - | - | - | - | 3 | Gain | - |
PIEZO2 | - | - | - | - | 3 | Gain | - |
PIGN | - | - | - | - | 3 | Gain | - |
PIK3AP1 | - | - | - | - | 4 | Gain | - |
PIK3C3 | - | - | - | - | 3 | Gain | - |
PIK3CD | p.C355Y | Missense | SNP | 0.379 | 2 | - | - |
PIK3R4 | p.V448I | Missense | SNP | 0.474 | 2 | - | - |
PINX1 | - | - | - | - | 3 | Gain | - |
PIP4K2A | - | - | - | - | 4 | Gain | - |
PIP4P2 | - | - | - | - | 3 | Gain | - |
PIP5KL1 | p.R9Afs*47 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
PITRM1 | - | - | - | - | 4 | Gain | - |
PITX3 | - | - | - | - | 4 | Gain | - |
PIWIL2 | - | - | - | - | 3 | Gain | - |
PIWIL3 | p.R256H | Missense | SNP | 0.463 | 2 | - | - |
PKD2L1 | - | - | - | - | 4 | Gain | - |
PKHD1L1 | - | - | - | - | 3 | Gain | - |
PKIA | - | - | - | - | 3 | Gain | - |
PKN2 | p.E854D | Missense | SNP | 0.426 | 2 | - | - |
PLA2G12B | - | - | - | - | 4 | Gain | - |
PLAC9 | - | - | - | - | 4 | Gain | - |
PLAG1 | - | - | - | - | 3 | Gain | - |
PLAT | p.T46M | Missense | SNP | 0.642 | 3 | Gain | - |
PLAU | - | - | - | - | 4 | Gain | - |
PLCE1 | - | - | - | - | 4 | Gain | - |
PLD3 | p.A402V | Missense | SNP | 0.475 | 2 | - | - |
PLD5 | p.V376I | Missense | SNP | 0.455 | 2 | - | - |
PLEC | p.T3608M p.E2305* p.R609H | Missense Nonsense Missense | SNP SNP SNP | 0.578 0.311 0.273 | 3 | Gain | - |
PLEKHA1 | - | - | - | - | 4 | Gain | - |
PLEKHA2 | - | - | - | - | 3 | Gain | - |
PLEKHF2 | - | - | - | - | 3 | Gain | - |
PLEKHO1 | p.Q256Rfs*6 | Frame_Shift_Del | DEL | 0.475 | 2 | - | - |
PLEKHS1 | - | - | - | - | 4 | Gain | - |
PLPBP | - | - | - | - | 3 | Gain | - |
PLPP4 | - | - | - | - | 4 | Gain | - |
PLPP5 | - | - | - | - | 3 | Gain | - |
PLXDC2 | - | - | - | - | 4 | Gain | - |
PLXNA1 | p.T508M p.D1478N | Missense Missense | SNP SNP | 0.478 0.544 | 2 | - | - |
PMAIP1 | - | - | - | - | 3 | Gain | - |
PML | p.E27Rfs*71 | Frame_Shift_Del | DEL | 0.447 | 2 | - | - |
PMP2 | - | - | - | - | 3 | Gain | - |
PMS2 | p.R199C | Missense | SNP | 0.466 | 2 | - | - |
PNISR | p.R697Gfs*15 | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
PNLIP | - | - | - | - | 4 | Gain | - |
PNLIPRP1 | - | - | - | - | 4 | Gain | - |
PNLIPRP2 | - | - | - | - | 4 | Gain | - |
PNLIPRP3 | - | - | - | - | 4 | Gain | - |
PNMA2 | - | - | - | - | 3 | Gain | - |
PNOC | - | - | - | - | 3 | Gain | - |
PNPLA2 | p.A432T | Missense | SNP | 0.524 | 2 | - | - |
POLB | - | - | - | - | 3 | Gain | - |
POLI | - | - | - | - | 3 | Gain | - |
POLL | - | - | - | - | 4 | Gain | - |
POLR2J | - | - | - | - | 1 | Loss | - |
POLR2J2 | - | - | - | - | 1 | Loss | - |
POLR2J3 | - | - | - | - | 1 | Loss | - |
POLR2K | - | - | - | - | 3 | Gain | - |
POLR3A | - | - | - | - | 4 | Gain | - |
POLR3D | - | - | - | - | 3 | Gain | - |
POMK | - | - | - | - | 3 | Gain | - |
POP1 | - | - | - | - | 3 | Gain | - |
POTEC | - | - | - | - | 3 | Gain | - |
POU2F2 | p.S577G | Missense | SNP | 0.434 | 2 | - | - |
POU5F1B | - | - | - | - | 3 | Gain | - |
PPA1 | - | - | - | - | 4 | Gain | - |
PPDPF | p.R55Afs*59 | Frame_Shift_Del | DEL | 0.585 | 2 | - | - |
PPDPFL | - | - | - | - | 3 | Gain | - |
PPFIA2 | p.R50W | Missense | SNP | 0.455 | 2 | - | - |
PPHLN1 | p.E370G | Missense | SNP | 0.619 | 2 | - | - |
PPIF | - | - | - | - | 4 | Gain | - |
PPIL1 | p.R72* | Nonsense | SNP | 0.608 | 2 | - | - |
PPL | p.R419Q | Missense | SNP | 0.390 | 2 | - | - |
PPP1R12C | p.I373Sfs*51 | Frame_Shift_Del | DEL | 0.461 | 2 | - | - |
PPP1R16A | - | - | - | - | 3 | Gain | - |
PPP1R3B | - | - | - | - | 3 | Gain | - |
PPP1R3C | - | - | - | - | 4 | Gain | - |
PPP1R42 | - | - | - | - | 3 | Gain | - |
PPP2CB | - | - | - | - | 3 | Gain | - |
PPP2R1A | p.T524M | Missense | SNP | 0.371 | 2 | - | - |
PPP2R2A | - | - | - | - | 3 | Gain | - |
PPP2R2D | - | - | - | - | 3 | Gain | - |
PPP3CB | - | - | - | - | 4 | Gain | - |
PPP3CC | - | - | - | - | 3 | Gain | - |
PPP4R1 | - | - | - | - | 3 | Gain | - |
PPRC1 | - | - | - | - | 4 | Gain | - |
PQLC1 | - | - | - | - | 3 | Gain | - |
PRAG1 | - | - | - | - | 3 | Gain | - |
PRAP1 | - | - | - | - | 3 | Gain | - |
PRDM14 | - | - | - | - | 3 | Gain | - |
PRDX3 | - | - | - | - | 4 | Gain | - |
PRDX4 | p.R171Efs*6 | Frame_Shift_Del | DEL | 0.473 | ND | ND | - |
PRELID3A | - | - | - | - | 3 | Gain | - |
PRELP | p.N334Qfs*8 | Frame_Shift_Ins | INS | 0.270 | 2 | - | - |
PREX2 | - | - | - | - | 3 | Gain | - |
PRF1 | - | - | - | - | 4 | Gain | - |
PRG4 | p.T367I | Missense | SNP | 0.533 | 2 | - | - |
PRICKLE3 | p.Q533R | Missense | SNP | 0.495 | ND | ND | - |
PRKCQ | p.R703W | Missense | SNP | 0.258 | 4 | Gain | - |
PRKDC | - | - | - | - | 3 | Gain | - |
PRKG1 | p.R297K | Missense | SNP | 0.213 | 4 | Gain | - |
PRLHR | p.R270H | Missense | SNP | 0.372 | 4 | Gain | - |
PRMT2 | p.A23V | Missense | SNP | 0.448 | 2 | - | - |
PROM2 | p.E728Vfs*17 | Frame_Shift_Del | DEL | 0.360 | 2 | - | - |
PROSC | p.Q71H | Missense | SNP | 0.624 | ND | ND | - |
PROSER2 | - | - | - | - | 4 | Gain | - |
PRPF18 | - | - | - | - | 4 | Gain | - |
PRPF40B | p.P40L p.R491* | Missense Nonsense | SNP SNP | 0.492 0.417 | 2 | - | - |
PRPF8 | p.R49W | Missense | SNP | 0.527 | 2 | - | - |
PRR12 | p.F1281L | Missense | SNP | 0.533 | 2 | - | - |
PRR14L | p.F1767del | In_Frame_Del | DEL | 0.361 | 2 | - | - |
PRR23D1 | - | - | - | - | 3 | Gain | - |
PRR23D2 | - | - | - | - | 3 | Gain | - |
PRR26 | - | - | - | - | 4 | Gain | - |
PRR35 | p.A246Gfs*88 | Frame_Shift_Ins | INS | 0.222 | 2 | - | - |
PRSS55 | - | - | - | - | 3 | Gain | - |
PRTFDC1 | - | - | - | - | 4 | Gain | - |
PRXL2A | - | - | - | - | 4 | Gain | - |
PSAP | - | - | - | - | 4 | Gain | - |
PSCA | - | - | - | - | 3 | Gain | - |
PSD | - | - | - | - | 4 | Gain | - |
PSD3 | - | - | - | - | 3 | Gain | - |
PSEN1 | p.S178Hfs*24 | Frame_Shift_Del | DEL | 0.567 | 2 | - | PSEN1--AC124312.3 |
PSG2 | p.A263V | Missense | SNP | 0.488 | 2 | - | - |
PSKH2 | - | - | - | - | 3 | Gain | - |
PSMA8 | - | - | - | - | 3 | Gain | - |
PSMC2 | p.A269Sfs*7 | Frame_Shift_Ins | INS | 0.329 | 2 | - | - |
PSMC5 | p.E396G | Missense | SNP | 0.506 | 2 | - | - |
PSMD1 | p.K124Nfs*11 | Frame_Shift_Del | DEL | 0.376 | 2 | - | - |
PSMG2 | - | - | - | - | 3 | Gain | - |
PSTK | - | - | - | - | 4 | Gain | - |
PSTPIP2 | - | - | - | - | 3 | Gain | - |
PTCHD3 | p.A235V | Missense | SNP | 0.236 | 4 | Gain | - |
PTDSS1 | - | - | - | - | 3 | Gain | - |
PTEN | - | - | - | - | 4 | Gain | - |
PTER | - | - | - | - | 4 | Gain | - |
PTF1A | - | - | - | - | 4 | Gain | - |
PTK2 | - | - | - | - | 3 | Gain | - |
PTK2B | - | - | - | - | 3 | Gain | - |
PTN | p.V42* | Frame_Shift_Del | DEL | 0.625 | 2 | - | - |
PTOV1 | p.*417Sfs*14 | Frame_Shift_Del | DEL | 0.311 | 2 | - | - |
PTP4A3 | - | - | - | - | 3 | Gain | - |
PTPN2 | - | - | - | - | 3 | Gain | - |
PTPN20 | - | - | - | - | 3 | Gain | - |
PTPRD | p.V1848I p.R401W | Missense Missense | SNP SNP | 0.602 0.459 | 2 | - | - |
PTPRE | - | - | - | - | 4 | Gain | - |
PTPRM | p.R226* | Nonsense | SNP | 0.310 | 3 | Gain | - |
PTPRT | p.P372L | Missense | SNP | 0.508 | 2 | - | - |
PUF60 | - | - | - | - | 3 | Gain | - |
PUM1 | p.R922Q | Missense | SNP | 0.529 | 2 | - | - |
PURG | - | - | - | - | 3 | Gain | - |
PWWP2B | - | - | - | - | 3 | Gain | - |
PXDNL | - | - | - | - | 3 | Gain | - |
PYCR3 | - | - | - | - | 3 | Gain | - |
PYROXD2 | - | - | - | - | 4 | Gain | - |
QKI | p.A273V | Missense | SNP | 0.421 | 2 | - | - |
QSER1 | p.N1697Mfs*4 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
R3HCC1 | - | - | - | - | 3 | Gain | - |
R3HCC1L | - | - | - | - | 4 | Gain | - |
RAB11FIP1 | - | - | - | - | 3 | Gain | - |
RAB11FIP2 | - | - | - | - | 4 | Gain | - |
RAB11FIP4 | p.T257M | Missense | SNP | 0.441 | 2 | - | - |
RAB12 | - | - | - | - | 3 | Gain | - |
RAB18 | p.P4S | Missense | SNP | 0.286 | 4 | Gain | - |
RAB27B | - | - | - | - | 3 | Gain | - |
RAB2A | - | - | - | - | 3 | Gain | - |
RAB31 | - | - | - | - | 3 | Gain | - |
RAB40C | p.K261N | Missense | SNP | 0.455 | 2 | - | - |
RAB4B | p.R129W | Missense | SNP | 0.432 | 2 | - | - |
RAD21 | - | - | - | - | 3 | Gain | - |
RAD54B | - | - | - | - | 3 | Gain | - |
RADIL | p.V165M | Missense | SNP | 0.645 | 2 | - | - |
RAI2 | p.V474M | Missense | SNP | 0.433 | ND | ND | - |
RALBP1 | - | - | - | - | 3 | Gain | - |
RALGAPB | p.F971Sfs*53 | Frame_Shift_Del | DEL | 0.592 | 2 | - | - |
RALYL | - | - | - | - | 3 | Gain | - |
RANBP3 | p.T292M | Missense | SNP | 0.462 | 2 | - | - |
RANGAP1 | p.G21Dfs*3 | Frame_Shift_Del | DEL | 0.565 | 2 | - | - |
RAPGEF4 | p.E389Kfs*10 | Frame_Shift_Del | DEL | 0.265 | 2 | - | - |
RASA4 | - | - | - | - | 1 | Loss | - |
RASA4B | - | - | - | - | 1 | Loss | - |
RASAL3 | p.R39H | Missense | SNP | 0.538 | 2 | - | - |
RASGEF1A | - | - | - | - | 3 | Gain | - |
RASGRP3 | p.R549Q | Missense | SNP | 0.461 | 2 | - | - |
RASL11B | p.R109C | Missense | SNP | 0.516 | 2 | - | - |
RASSF4 | - | - | - | - | 3 | Gain | - |
RAX | - | - | - | - | 3 | Gain | - |
RB1CC1 | - | - | - | - | 3 | Gain | - |
RBBP8 | - | - | - | - | 3 | Gain | - |
RBFA | - | - | - | - | 3 | Gain | - |
RBM10 | p.R960W | Missense | SNP | 0.350 | ND | ND | - |
RBM12B | - | - | - | - | 3 | Gain | - |
RBM14 | p.F191Lfs*40 | Frame_Shift_Del | DEL | 0.381 | 2 | - | - |
RBM17 | - | - | - | - | 4 | Gain | - |
RBM20 | p.R1057Q | Missense | SNP | 0.698 | 4 | Gain | - |
RBM27 | p.K816Nfs*5 | Frame_Shift_Del | DEL | 0.493 | 2 | - | - |
RBM43 | p.I136Sfs*4 | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
RBM46 | p.R266W | Missense | SNP | 0.515 | 2 | - | - |
RBM47 | p.G112S | Missense | SNP | 0.489 | 2 | - | - |
RBM48 | p.P217H | Missense | SNP | 0.421 | 2 | - | - |
RBM4B | p.P154Lfs*24 | Frame_Shift_Del | DEL | 0.412 | 2 | - | - |
RBP3 | - | - | - | - | 3 | Gain | - |
RBP4 | - | - | - | - | 4 | Gain | - |
RBPMS | - | - | - | - | 3 | Gain | - |
RCAN3 | p.A151S | Missense | SNP | 0.397 | 2 | - | - |
RCC1 | p.R33H | Missense | SNP | 0.462 | 2 | - | - |
RDH10 | . | Missense | DEL | 0.508 | 3 | Gain | - |
RECQL4 | - | - | - | - | 3 | Gain | - |
REEP3 | - | - | - | - | 4 | Gain | - |
REEP4 | - | - | - | - | 3 | Gain | - |
RELA | p.H487Pfs*4 | Frame_Shift_Ins | INS | 0.278 | 2 | - | - |
RELCH | - | - | - | - | 3 | Gain | - |
RERE | p.P940L | Missense | SNP | 0.706 | 2 | - | - |
RET | - | - | - | - | 3 | Gain | - |
RETSAT | p.A586T | Missense | SNP | 0.427 | 2 | - | - |
RGR | - | - | - | - | 4 | Gain | - |
RGS10 | - | - | - | - | 4 | Gain | - |
RGS12 | p.P1357L | Missense | SNP | 0.590 | 2 | - | - |
RGS20 | - | - | - | - | 3 | Gain | - |
RGS22 | - | - | - | - | 3 | Gain | - |
RHOBTB1 | - | - | - | - | 4 | Gain | - |
RHOBTB2 | - | - | - | - | 3 | Gain | - |
RHOXF1 | p.D174Tfs*22 | Frame_Shift_Del | DEL | 0.403 | ND | ND | - |
RHPN1 | - | - | - | - | 3 | Gain | - |
RIDA | - | - | - | - | 3 | Gain | - |
RIMS2 | - | - | - | - | 3 | Gain | - |
RINT1 | p.P247Lfs*8 | Frame_Shift_Del | DEL | 0.407 | 2 | - | - |
RIOK3 | - | - | - | - | 3 | Gain | - |
RIPK2 | - | - | - | - | 3 | Gain | - |
RIPK4 | p.A147T | Missense | SNP | 0.500 | 2 | - | - |
RIT2 | - | - | - | - | 3 | Gain | - |
RLF | p.R721* | Nonsense | SNP | 0.404 | 2 | - | - |
RMC1 | - | - | - | - | 3 | Gain | - |
RMDN1 | - | - | - | - | 3 | Gain | - |
RNF113B | p.G104V | Missense | SNP | 0.461 | 2 | - | - |
RNF121 | p.R194W | Missense | SNP | 0.450 | 2 | - | - |
RNF122 | - | - | - | - | 3 | Gain | - |
RNF125 | - | - | - | - | 3 | Gain | - |
RNF128 | p.R6M | Missense | SNP | 0.476 | ND | ND | - |
RNF138 | - | - | - | - | 3 | Gain | - |
RNF139 | - | - | - | - | 3 | Gain | - |
RNF152 | - | - | - | - | 3 | Gain | - |
RNF165 | - | - | - | - | 3 | Gain | - |
RNF170 | - | - | - | - | 3 | Gain | - |
RNF19A | - | - | - | - | 3 | Gain | - |
RNF20 | p.R244H | Missense | SNP | 0.464 | 2 | - | - |
RNLS | - | - | - | - | 4 | Gain | - |
RNMT | - | - | - | - | 3 | Gain | - |
ROBO2 | p.L601P | Missense | SNP | 0.414 | 2 | - | - |
ROCK1 | - | - | - | - | 3 | Gain | - |
ROS1 | p.V2276A p.G1915R | Missense Missense | SNP SNP | 0.518 0.565 | 2 | - | - |
RP1 | - | - | - | - | 3 | Gain | - |
RP11-310K10.1 | p.A353T | Missense | SNP | 0.456 | ND | ND | - |
RP1L1 | - | - | - | - | 3 | Gain | - |
RPEL1 | - | - | - | - | 4 | Gain | - |
RPL17 | - | - | - | - | 3 | Gain | - |
RPL17-C18orf32 | - | - | - | - | 3 | Gain | - |
RPL22 | p.K15Rfs*5 | Frame_Shift_Del | DEL | 0.360 | 2 | - | - |
RPL30 | - | - | - | - | 3 | Gain | - |
RPL3L | p.A75V | Missense | SNP | 0.484 | 2 | - | - |
RPL7 | - | - | - | - | 3 | Gain | - |
RPL7A | p.K11del | In_Frame_Del | DEL | 0.563 | 2 | - | - |
RPL8 | - | - | - | - | 3 | Gain | - |
RPP30 | - | - | - | - | 4 | Gain | - |
RPP38 | - | - | - | - | 4 | Gain | - |
RPRD1A | - | - | - | - | 3 | Gain | - |
RPS20 | - | - | - | - | 3 | Gain | - |
RPS24 | - | - | - | - | 4 | Gain | - |
RPUSD4 | p.R235W | Missense | SNP | 0.497 | 2 | - | - |
RREB1 | p.S600N | Missense | SNP | 0.524 | 2 | - | - |
RRM2B | - | - | - | - | 3 | Gain | - |
RRP12 | - | - | - | - | 4 | Gain | - |
RRS1 | - | - | - | - | 3 | Gain | - |
RSPO2 | - | - | - | - | 3 | Gain | - |
RSU1 | - | - | - | - | 4 | Gain | - |
RTCA | p.T334M | Missense | SNP | 0.434 | 2 | - | - |
RTF1 | p.R333* | Nonsense | SNP | 0.402 | 2 | - | - |
RTKN2 | - | - | - | - | 4 | Gain | - |
RTTN | - | - | - | - | 3 | Gain | - |
RUFY2 | - | - | - | - | 4 | Gain | - |
RUNX1T1 | - | - | - | - | 3 | Gain | - |
SACS | p.K1717Nfs*8 | Frame_Shift_Del | DEL | 0.496 | 2 | - | - |
SALL3 | p.T658M | Missense | SNP | 0.605 | 3 | Gain | - |
SAMD12 | - | - | - | - | 3 | Gain | - |
SAMD8 | - | - | - | - | 4 | Gain | - |
SAR1A | - | - | - | - | 4 | Gain | - |
SARAF | - | - | - | - | 3 | Gain | - |
SBSPON | - | - | - | - | 3 | Gain | - |
SCAF1 | p.T1181Pfs*28 | Frame_Shift_Del | DEL | 0.413 | 2 | - | - |
SCARA3 | - | - | - | - | 3 | Gain | - |
SCARA5 | - | - | - | - | 3 | Gain | - |
SCART1 | - | - | - | - | 3 | Gain | - |
SCD | - | - | - | - | 4 | Gain | - |
SCN8A | p.W942C | Missense | SNP | 0.429 | 2 | - | - |
SCRIB | p.F1211L | Missense | SNP | 0.397 | 3 | Gain | - |
SCRT1 | - | - | - | - | 3 | Gain | - |
SCX | - | - | - | - | 3 | Gain | - |
SDC2 | - | - | - | - | 3 | Gain | - |
SDCBP | - | - | - | - | 3 | Gain | - |
SDK1 | p.R140C | Missense | SNP | 0.468 | 2 | - | - |
SDR16C5 | - | - | - | - | 3 | Gain | - |
SEC11C | - | - | - | - | 3 | Gain | - |
SEC14L5 | p.A349V | Missense | SNP | 0.468 | 2 | - | - |
SEC16B | p.V643M | Missense | SNP | 0.420 | 2 | - | - |
SEC23IP | - | - | - | - | 4 | Gain | - |
SEC24C | - | - | - | - | 4 | Gain | - |
SEC31B | - | - | - | - | 4 | Gain | - |
SEC61A2 | - | - | - | - | 4 | Gain | - |
SEH1L | - | - | - | - | 3 | Gain | - |
SELP | p.V501I | Missense | SNP | 0.292 | 2 | - | - |
SEMA4G | - | - | - | - | 4 | Gain | - |
SEMA5B | p.P325L | Missense | SNP | 0.404 | 2 | - | - |
SEMG1 | p.A241V | Missense | SNP | 0.433 | 2 | - | - |
SENP6 | p.R1072* | Nonsense | SNP | 0.373 | 2 | - | - |
SENP7 | p.K545Nfs*11 | Frame_Shift_Del | DEL | 0.568 | 2 | - | - |
SEPHS1 | - | - | - | - | 4 | Gain | - |
SERAC1 | p.V8I | Missense | SNP | 0.454 | 2 | - | - |
SERPINB10 | - | - | - | - | 3 | Gain | - |
SERPINB11 | - | - | - | - | 3 | Gain | - |
SERPINB12 | - | - | - | - | 3 | Gain | - |
SERPINB13 | - | - | - | - | 3 | Gain | - |
SERPINB2 | - | - | - | - | 3 | Gain | - |
SERPINB3 | - | - | - | - | 3 | Gain | - |
SERPINB4 | - | - | - | - | 3 | Gain | - |
SERPINB5 | - | - | - | - | 3 | Gain | - |
SERPINB7 | - | - | - | - | 3 | Gain | - |
SERPINB8 | - | - | - | - | 3 | Gain | - |
SETBP1 | - | - | - | - | 3 | Gain | - |
SETD1B | p.H8Tfs*27 p.S291N | Frame_Shift_Del Missense | DEL SNP | 0.414 0.497 | 2 | - | - |
SETD5 | p.S1286Lfs*37 | Frame_Shift_Ins | INS | 0.283 | 2 | - | - |
SEZ6L2 | p.T77M | Missense | SNP | 0.412 | 2 | - | - |
SFMBT2 | - | - | - | - | 4 | Gain | - |
SFR1 | - | - | - | - | 4 | Gain | - |
SFRP1 | - | - | - | - | 3 | Gain | - |
SFRP5 | - | - | - | - | 4 | Gain | - |
SFTPA1 | - | - | - | - | 4 | Gain | - |
SFTPA2 | - | - | - | - | 4 | Gain | - |
SFTPC | - | - | - | - | 3 | Gain | - |
SFTPD | - | - | - | - | 4 | Gain | - |
SFXN2 | p.D75G | Missense | SNP | 0.230 | 4 | Gain | - |
SFXN3 | - | - | - | - | 4 | Gain | - |
SFXN4 | - | - | - | - | 4 | Gain | - |
SGCZ | - | - | - | - | 3 | Gain | - |
SGK3 | - | - | - | - | 3 | Gain | - |
SGMS1 | - | - | - | - | 4 | Gain | - |
SGO1 | p.R522Efs*39 p.M325Cfs*28 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.343 0.400 | 2 | - | - |
SGPL1 | - | - | - | - | 4 | Gain | - |
SH2D4A | - | - | - | - | 3 | Gain | - |
SH2D4B | - | - | - | - | 4 | Gain | - |
SH3PXD2A | - | - | - | - | 4 | Gain | - |
SHARPIN | - | - | - | - | 3 | Gain | - |
SHC2 | p.P407Rfs*37 | Frame_Shift_Del | DEL | 0.333 | 2 | - | - |
SHISA7 | p.G359Afs*178 | Frame_Shift_Del | DEL | 0.576 | 2 | - | - |
SHLD2 | - | - | - | - | 4 | Gain | - |
SHOC2 | - | - | - | - | 4 | Gain | - |
SHROOM2 | p.R753Q | Missense | SNP | 0.480 | ND | ND | - |
SHROOM4 | p.K1314Rfs*23 p.R242C | Frame_Shift_Del Missense | DEL SNP | 0.414 0.456 | ND | ND | - |
SHTN1 | - | - | - | - | 4 | Gain | - |
SIGLEC15 | - | - | - | - | 3 | Gain | - |
SIRT1 | - | - | - | - | 4 | Gain | - |
SIX5 | p.A625Pfs*31 | Frame_Shift_Del | DEL | 0.434 | 2 | - | - |
SKA1 | - | - | - | - | 3 | Gain | - |
SKIDA1 | - | - | - | - | 4 | Gain | - |
SKOR2 | - | - | - | - | 3 | Gain | - |
SLA | p.R173H | Missense | SNP | 0.377 | 3 | Gain | - |
SLC10A5 | - | - | - | - | 3 | Gain | - |
SLC14A1 | - | - | - | - | 3 | Gain | - |
SLC14A2 | - | - | - | - | 3 | Gain | - |
SLC16A10 | p.I282Ffs*9 | Frame_Shift_Del | DEL | 0.503 | 2 | - | - |
SLC16A12 | - | - | - | - | 4 | Gain | - |
SLC16A2 | p.G147R | Missense | SNP | 0.564 | ND | ND | - |
SLC16A9 | - | - | - | - | 4 | Gain | - |
SLC18A1 | - | - | - | - | 3 | Gain | - |
SLC18A2 | p.G231V | Missense | SNP | 0.368 | 4 | Gain | - |
SLC18A3 | - | - | - | - | 4 | Gain | - |
SLC19A3 | p.R277H | Missense | SNP | 0.373 | 2 | - | - |
SLC1A7 | p.T406I | Missense | SNP | 0.350 | 2 | - | - |
SLC20A2 | - | - | - | - | 3 | Gain | - |
SLC22A16 | p.T87M | Missense | SNP | 0.525 | 2 | - | - |
SLC22A18 | p.T93M | Missense | SNP | 0.490 | 2 | - | - |
SLC22A6 | p.R192W | Missense | SNP | 0.532 | 2 | - | - |
SLC25A16 | - | - | - | - | 4 | Gain | - |
SLC25A24 | p.G192R | Missense | SNP | 0.515 | 2 | - | - |
SLC25A28 | - | - | - | - | 4 | Gain | - |
SLC25A32 | - | - | - | - | 3 | Gain | - |
SLC25A37 | - | - | - | - | 3 | Gain | - |
SLC25A52 | - | - | - | - | 3 | Gain | - |
SLC26A1 | p.R365H | Missense | SNP | 0.452 | 2 | - | - |
SLC26A7 | - | - | - | - | 3 | Gain | - |
SLC29A3 | - | - | - | - | 4 | Gain | - |
SLC30A8 | p.S183R | Missense | SNP | 0.517 | 3 | Gain | - |
SLC35G1 | - | - | - | - | 4 | Gain | - |
SLC35G4 | - | - | - | - | 3 | Gain | - |
SLC35G5 | - | - | - | - | 3 | Gain | - |
SLC39A12 | - | - | - | - | 4 | Gain | - |
SLC39A13 | p.A279T | Missense | SNP | 0.543 | 2 | - | - |
SLC39A14 | - | - | - | - | 3 | Gain | - |
SLC39A4 | - | - | - | - | 3 | Gain | - |
SLC39A6 | - | - | - | - | 3 | Gain | - |
SLC44A4 | p.V238Wfs*5 | Frame_Shift_Del | DEL | 0.448 | 2 | - | - |
SLC45A1 | p.P494L | Missense | SNP | 0.657 | 2 | - | - |
SLC45A4 | - | - | - | - | 3 | Gain | - |
SLC52A2 | - | - | - | - | 3 | Gain | - |
SLC5A6 | p.R142* | Nonsense | SNP | 0.495 | 2 | - | - |
SLC6A17 | p.G110E | Missense | SNP | 0.355 | 2 | - | - |
SLC7A10 | p.T158Pfs*12 | Frame_Shift_Del | DEL | 0.495 | 2 | - | - |
SLC7A13 | - | - | - | - | 3 | Gain | - |
SLC7A2 | - | - | - | - | 3 | Gain | - |
SLC9C1 | p.F10Sfs*11 | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
SLCO4A1 | p.T297M | Missense | SNP | 0.571 | 2 | - | - |
SLCO5A1 | - | - | - | - | 3 | Gain | - |
SLF2 | - | - | - | - | 4 | Gain | - |
SLIT1 | - | - | - | - | 4 | Gain | - |
SLIT2 | p.N929Mfs*46 | Frame_Shift_Del | DEL | 0.470 | 2 | - | - |
SLITRK2 | p.Q61Pfs*35 | Frame_Shift_Ins | INS | 0.327 | ND | ND | - |
SLITRK5 | p.N762Tfs*12 | Frame_Shift_Del | DEL | 0.411 | 2 | - | - |
SLK | - | - | - | - | 4 | Gain | - |
SLURP1 | - | - | - | - | 3 | Gain | - |
SLURP2 | - | - | - | - | 3 | Gain | - |
SMAD2 | - | - | - | - | 3 | Gain | - |
SMAD4 | - | - | - | - | 3 | Gain | - |
SMAD7 | p.P209Lfs*115 | Frame_Shift_Del | DEL | 0.333 | 3 | Gain | - |
SMAP1 | p.K172Rfs*48 | Frame_Shift_Del | DEL | 0.413 | 2 | - | - |
SMARCA1 | p.K57del | In_Frame_Del | DEL | 0.369 | ND | ND | - |
SMARCA4 | p.G271Rfs*16 p.G911D p.R1157Q | Frame_Shift_Ins Missense Missense | INS SNP SNP | 0.304 0.537 0.495 | 2 | - | - |
SMARCD1 | p.R503* | Nonsense | SNP | 0.457 | 2 | - | - |
SMC2 | p.K368E | Missense | SNP | 0.424 | 2 | - | - |
SMC3 | - | - | - | - | 4 | Gain | - |
SMCHD1 | - | - | - | - | 3 | Gain | - |
SMIM18 | - | - | - | - | 3 | Gain | - |
SMIM19 | - | - | - | - | 3 | Gain | - |
SMIM21 | - | - | - | - | 3 | Gain | - |
SMNDC1 | - | - | - | - | 4 | Gain | - |
SMPD4 | - | - | - | - | 1 | Loss | - |
SMPX | p.R34Qfs*8 | Frame_Shift_Ins | INS | 0.311 | ND | ND | - |
SMYD4 | p.S737G | Missense | SNP | 0.422 | 2 | - | - |
SNAI2 | - | - | - | - | 3 | Gain | - |
SNCG | - | - | - | - | 4 | Gain | - |
SND1 | p.R539H | Missense | SNP | 0.511 | 2 | - | - |
SNED1 | p.P701Rfs*4 | Frame_Shift_Del | DEL | 0.314 | 2 | - | - |
SNRPB | p.R25W | Missense | SNP | 0.301 | 2 | - | - |
SNRPD1 | - | - | - | - | 3 | Gain | - |
SNTB1 | - | - | - | - | 3 | Gain | - |
SNTG1 | - | - | - | - | 3 | Gain | - |
SNW1 | p.Q15H | Missense | SNP | 0.393 | 2 | - | - |
SNX16 | - | - | - | - | 3 | Gain | - |
SNX31 | - | - | - | - | 3 | Gain | - |
SOCS6 | - | - | - | - | 3 | Gain | - |
SORBS1 | - | - | - | - | 4 | Gain | - |
SORBS3 | - | - | - | - | 3 | Gain | - |
SORCS1 | - | - | - | - | 4 | Gain | - |
SORCS3 | - | - | - | - | 4 | Gain | - |
SOS1 | p.K1030Nfs*6 | Frame_Shift_Del | DEL | 0.415 | 2 | - | - |
SOX17 | - | - | - | - | 3 | Gain | - |
SOX7 | - | - | - | - | 3 | Gain | - |
SPAG1 | - | - | - | - | 3 | Gain | - |
SPAG11A | - | - | - | - | 3 | Gain | - |
SPAG11B | - | - | - | - | 3 | Gain | - |
SPAG5 | p.R259C | Missense | SNP | 0.446 | 2 | - | - |
SPAG6 | - | - | - | - | 4 | Gain | - |
SPATA13 | p.R896H | Missense | SNP | 0.448 | 2 | - | - |
SPATA22 | p.N194Tfs*30 | Frame_Shift_Del | DEL | 0.402 | 2 | - | - |
SPATA31A1 | p.S1009Y | Missense | SNP | 0.562 | 2 | - | - |
SPATA31D4 | p.N780Kfs*6 | Frame_Shift_Ins | INS | 0.241 | 2 | - | - |
SPATC1 | - | - | - | - | 3 | Gain | - |
SPDYE2 | - | - | - | - | 1 | Loss | - |
SPEN | p.V1907I | Missense | SNP | 0.423 | 2 | - | - |
SPIDR | - | - | - | - | 3 | Gain | - |
SPIRE1 | - | - | - | - | 3 | Gain | - |
SPNS2 | p.G79Afs*91 | Frame_Shift_Del | DEL | 0.417 | 2 | - | - |
SPOCK2 | - | - | - | - | 4 | Gain | - |
SPON2 | p.T209M | Missense | SNP | 0.455 | 2 | - | - |
SPRN | - | - | - | - | 3 | Gain | - |
SPTAN1 | p.R474W | Missense | SNP | 0.494 | 2 | - | - |
SPTBN4 | p.C355Y | Missense | SNP | 0.463 | 2 | - | - |
SQLE | - | - | - | - | 3 | Gain | - |
SREBF1 | p.A1026T | Missense | SNP | 0.464 | 2 | - | - |
SRGAP3 | p.R585Q | Missense | SNP | 0.412 | 2 | - | - |
SRGN | - | - | - | - | 4 | Gain | - |
SRPRA | p.K170Rfs*33 | Frame_Shift_Del | DEL | 0.494 | 2 | - | - |
SRRT | p.G105Wfs*15 | Frame_Shift_Ins | INS | 0.195 | 2 | - | - |
SS18 | - | - | - | - | 3 | Gain | - |
SSRP1 | p.R463W | Missense | SNP | 0.412 | 2 | - | - |
SSTR1 | p.R336H | Missense | SNP | 0.412 | 2 | - | - |
SSTR4 | p.R252C | Missense | SNP | 0.520 | 2 | - | - |
SSU72 | p.D50N | Missense | SNP | 0.457 | 2 | - | - |
ST18 | - | - | - | - | 3 | Gain | - |
ST3GAL1 | - | - | - | - | 3 | Gain | - |
ST8SIA3 | - | - | - | - | 3 | Gain | - |
ST8SIA5 | - | - | - | - | 3 | Gain | - |
ST8SIA6 | p.A252Pfs*53 | Frame_Shift_Del | DEL | 0.236 | 4 | Gain | - |
STAB1 | p.E1712Rfs*8 | Frame_Shift_Ins | INS | 0.284 | 2 | - | - |
STAM | - | - | - | - | 4 | Gain | - |
STAMBPL1 | - | - | - | - | 4 | Gain | - |
STAR | - | - | - | - | 3 | Gain | - |
STARD6 | - | - | - | - | 3 | Gain | - |
STAT5B | p.R430H | Missense | SNP | 0.516 | 2 | - | - |
STAU2 | - | - | - | - | 3 | Gain | - |
STC1 | - | - | - | - | 3 | Gain | - |
STK3 | - | - | - | - | 3 | Gain | - |
STK32C | - | - | - | - | 3 | Gain | - |
STK38 | p.F382Lfs*70 | Frame_Shift_Del | DEL | 0.528 | 2 | - | - |
STMN2 | - | - | - | - | 3 | Gain | - |
STMN4 | p.R205Q | Missense | SNP | 0.540 | 3 | Gain | - |
STN1 | - | - | - | - | 4 | Gain | - |
STOX1 | - | - | - | - | 4 | Gain | - |
STRBP | p.R289* | Nonsense | SNP | 0.478 | 2 | - | - |
SUFU | p.R224Q | Missense | SNP | 0.245 | 4 | Gain | - |
SULF1 | - | - | - | - | 3 | Gain | - |
SUPT5H | p.Y564H p.R700Q | Missense Missense | SNP SNP | 0.419 0.592 | 2 | - | - |
SUPV3L1 | - | - | - | - | 4 | Gain | - |
SURF2 | p.R28M | Missense | SNP | 0.553 | 2 | - | - |
SURF6 | p.R216H | Missense | SNP | 0.471 | 2 | - | - |
SUV39H2 | - | - | - | - | 4 | Gain | - |
SVIL | - | - | - | - | 4 | Gain | - |
SYBU | - | - | - | - | 3 | Gain | - |
SYCE1 | - | - | - | - | 3 | Gain | - |
SYNPO | p.S750N | Missense | SNP | 0.533 | 2 | - | - |
SYNPO2L | - | - | - | - | 4 | Gain | - |
SYT15 | - | - | - | - | 3 | Gain | - |
SYT4 | - | - | - | - | 3 | Gain | - |
TACC1 | p.K261Qfs*9 | Frame_Shift_Ins | INS | 0.395 | 3 | Gain | - |
TACC2 | - | - | - | - | 4 | Gain | - |
TACR2 | - | - | - | - | 4 | Gain | - |
TAF1B | p.S471Afs*28 | Frame_Shift_Del | DEL | 0.517 | 2 | - | - |
TAF2 | - | - | - | - | 3 | Gain | - |
TAF3 | - | - | - | - | 4 | Gain | - |
TAF4 | p.X588_splice | Splice_Site | SNP | 0.553 | 2 | - | - |
TAF4B | - | - | - | - | 3 | Gain | - |
TAF5 | - | - | - | - | 4 | Gain | - |
TAOK3 | p.A784V | Missense | SNP | 0.374 | 2 | - | - |
TAS1R1 | p.L75I | Missense | SNP | 0.547 | 2 | - | - |
TAS1R2 | p.R226H | Missense | SNP | 0.483 | 2 | - | - |
TATDN1 | - | - | - | - | 3 | Gain | - |
TBATA | - | - | - | - | 4 | Gain | - |
TBC1D12 | - | - | - | - | 4 | Gain | - |
TBC1D31 | - | - | - | - | 3 | Gain | - |
TCEA1 | - | - | - | - | 3 | Gain | - |
TCEAL4 | p.A16V | Missense | SNP | 0.500 | ND | ND | - |
TCERG1L | - | - | - | - | 3 | Gain | - |
TCF24 | - | - | - | - | 3 | Gain | - |
TCF3 | p.R609W | Missense | SNP | 0.410 | 2 | - | - |
TCF4 | - | - | - | - | 3 | Gain | - |
TCF7L2 | - | - | - | - | 4 | Gain | - |
TCIM | - | - | - | - | 3 | Gain | - |
TCP11L2 | p.L308P | Missense | SNP | 0.436 | 2 | - | - |
TCTN3 | - | - | - | - | 4 | Gain | - |
TDRD1 | - | - | - | - | 4 | Gain | - |
TDRP | - | - | - | - | 3 | Gain | - |
TEAD2 | p.H299Mfs*12 | Frame_Shift_Del | DEL | 0.428 | 2 | - | - |
TECTB | - | - | - | - | 4 | Gain | - |
TENM3 | p.R1195W | Missense | SNP | 0.534 | 2 | - | - |
TERF1 | - | - | - | - | 3 | Gain | - |
TET1 | p.R222H | Missense | SNP | 0.440 | 4 | Gain | - |
TEX15 | - | - | - | - | 3 | Gain | - |
TEX264 | p.R203W | Missense | SNP | 0.447 | 2 | - | - |
TEX36 | - | - | - | - | 4 | Gain | - |
TFAM | p.E148Sfs*2 | Frame_Shift_Del | DEL | 0.561 | 4 | Gain | - |
TFCP2 | p.R257Q | Missense | SNP | 0.393 | 2 | - | - |
TG | - | - | - | - | 3 | Gain | - |
TGIF1 | - | - | - | - | 3 | Gain | - |
TGM1 | p.R46C | Missense | SNP | 0.535 | 2 | - | - |
TGM7 | p.R498M | Missense | SNP | 0.347 | 2 | - | - |
TGS1 | - | - | - | - | 3 | Gain | - |
THAP1 | - | - | - | - | 3 | Gain | - |
THAP8 | p.L116Cfs*15 | Frame_Shift_Del | DEL | 0.478 | 2 | - | - |
THBS2 | p.R812* | Nonsense | SNP | 0.510 | 2 | - | - |
THEM6 | - | - | - | - | 3 | Gain | - |
THNSL1 | - | - | - | - | 4 | Gain | - |
THOC1 | - | - | - | - | 3 | Gain | - |
THSD7B | p.G987C | Missense | SNP | 0.338 | 2 | - | - |
TIAL1 | - | - | - | - | 4 | Gain | - |
TICAM1 | p.A568V | Missense | SNP | 0.476 | 2 | - | - |
TICRR | p.R1086* | Nonsense | SNP | 0.455 | 2 | - | - |
TIE1 | p.R603H | Missense | SNP | 0.491 | 2 | - | - |
TIFAB | p.E143D | Missense | SNP | 0.447 | 2 | - | - |
TIGD5 | - | - | - | - | 3 | Gain | - |
TIMM21 | - | - | - | - | 3 | Gain | - |
TIMM23 | - | - | - | - | 3 | Gain | - |
TIMM23B | - | - | - | - | 4 | Gain | - |
TKTL2 | p.R24Q | Missense | SNP | 0.435 | 2 | - | - |
TLE2 | p.S250Qfs*30 | Frame_Shift_Ins | INS | 0.341 | 2 | - | - |
TLL2 | - | - | - | - | 4 | Gain | - |
TLN2 | p.V1160M p.E2318K | Missense Missense | SNP SNP | 0.558 0.509 | 2 | - | - |
TLX1 | - | - | - | - | 4 | Gain | - |
TM2D2 | - | - | - | - | 3 | Gain | - |
TM6SF2 | p.A201T p.A107V | Missense Missense | SNP SNP | 0.454 0.458 | 2 | - | - |
TM9SF3 | - | - | - | - | 4 | Gain | - |
TMED3 | p.V153I | Missense | SNP | 0.430 | 2 | - | - |
TMEM131 | p.D1577G | Missense | SNP | 0.498 | 2 | - | - |
TMEM155 | p.S121Ifs*44 | Frame_Shift_Del | DEL | 0.436 | 2 | - | - |
TMEM168 | p.R258C | Missense | SNP | 0.490 | 2 | - | - |
TMEM169 | p.T164M | Missense | SNP | 0.514 | 2 | - | - |
TMEM181 | p.F186L p.G452R | Missense Missense | SNP SNP | 0.553 0.544 | 2 | - | - |
TMEM200C | p.P21Qfs*22 | Frame_Shift_Del | DEL | 0.244 | 3 | Gain | - |
TMEM231 | p.S275N | Missense | SNP | 0.484 | 2 | - | - |
TMEM236 | - | - | - | - | 4 | Gain | - |
TMEM239 | p.G136S | Missense | SNP | 0.470 | 2 | - | - |
TMEM241 | - | - | - | - | 3 | Gain | - |
TMEM249 | - | - | - | - | 3 | Gain | - |
TMEM254 | - | - | - | - | 4 | Gain | - |
TMEM26 | - | - | - | - | 4 | Gain | - |
TMEM273 | - | - | - | - | 3 | Gain | - |
TMEM64 | - | - | - | - | 3 | Gain | - |
TMEM65 | - | - | - | - | 3 | Gain | - |
TMEM67 | - | - | - | - | 3 | Gain | - |
TMEM68 | - | - | - | - | 3 | Gain | - |
TMEM70 | - | - | - | - | 3 | Gain | - |
TMEM71 | - | - | - | - | 3 | Gain | - |
TMEM72 | - | - | - | - | 3 | Gain | - |
TMEM74 | - | - | - | - | 3 | Gain | - |
TMEM92 | p.Y120Tfs*4 | Frame_Shift_Del | DEL | 0.440 | 2 | - | - |
TMTC2 | p.Q829Tfs*7 | Frame_Shift_Ins | INS | 0.312 | 2 | - | - |
TMX3 | - | - | - | - | 3 | Gain | - |
TNFRSF10A | - | - | - | - | 3 | Gain | - |
TNFRSF10B | - | - | - | - | 3 | Gain | - |
TNFRSF10C | - | - | - | - | 3 | Gain | - |
TNFRSF10D | - | - | - | - | 3 | Gain | - |
TNFRSF11A | p.P432L | Missense | SNP | 0.718 | 3 | Gain | - |
TNFRSF11B | - | - | - | - | 3 | Gain | - |
TNKS | - | - | - | - | 3 | Gain | - |
TNKS2 | - | - | - | - | 4 | Gain | - |
TNRC18 | p.A832P | Missense | SNP | 0.448 | 2 | - | - |
TNRC6C | p.N615Mfs*45 | Frame_Shift_Del | DEL | 0.455 | 2 | - | - |
TNS1 | p.R1198Q | Missense | SNP | 0.517 | 2 | - | - |
TONSL | - | - | - | - | 3 | Gain | - |
TOP1MT | - | - | - | - | 3 | Gain | - |
TOX | - | - | - | - | 3 | Gain | - |
TP53INP1 | - | - | - | - | 3 | Gain | - |
TPD52 | - | - | - | - | 3 | Gain | - |
TPGS2 | - | - | - | - | 3 | Gain | - |
TRAF2 | p.R486W | Missense | SNP | 0.429 | 2 | - | - |
TRAM1 | - | - | - | - | 3 | Gain | - |
TRAPPC8 | - | - | - | - | 3 | Gain | - |
TRAPPC9 | - | - | - | - | 3 | Gain | - |
TRDMT1 | - | - | - | - | 4 | Gain | - |
TRDN | p.A435V | Missense | SNP | 0.459 | 2 | - | - |
TRHR | - | - | - | - | 3 | Gain | - |
TRIB1 | - | - | - | - | 3 | Gain | - |
TRIM10 | p.R429W | Missense | SNP | 0.573 | 2 | - | - |
TRIM28 | p.R470W | Missense | SNP | 0.457 | 2 | - | - |
TRIM3 | p.S74L | Missense | SNP | 0.445 | 2 | - | - |
TRIM35 | - | - | - | - | 3 | Gain | - |
TRIM36 | p.R44H | Missense | SNP | 0.500 | 2 | - | - |
TRIM55 | - | - | - | - | 3 | Gain | - |
TRIM73 | p.R52C | Missense | SNP | 0.302 | 2 | - | - |
TRIM8 | - | - | - | - | 4 | Gain | - |
TRIO | p.R558C p.L1071P | Missense Missense | SNP SNP | 0.496 0.462 | 2 | - | - |
TRIOBP | p.R2039W | Missense | SNP | 0.438 | 2 | - | - |
TRIP12 | p.X378_splice | Splice_Site | SNP | 0.431 | 2 | - | - |
TRIQK | - | - | - | - | 3 | Gain | - |
TRMT12 | - | - | - | - | 3 | Gain | - |
TRMT5 | p.R432W | Missense | SNP | 0.423 | 2 | - | - |
TRMT9B | - | - | - | - | 3 | Gain | - |
TRPA1 | - | - | - | - | 3 | Gain | - |
TRPM2 | p.A1278T | Missense | SNP | 0.458 | 2 | - | - |
TRPM3 | p.T944M | Missense | SNP | 0.483 | 2 | - | - |
TRPS1 | - | - | - | - | 3 | Gain | - |
TRUB1 | - | - | - | - | 4 | Gain | - |
TSHZ1 | - | - | - | - | 3 | Gain | - |
TSHZ3 | p.A211Pfs*19 | Frame_Shift_Del | DEL | 0.377 | 2 | - | - |
TSNARE1 | - | - | - | - | 3 | Gain | - |
TSPAN14 | - | - | - | - | 4 | Gain | - |
TSPAN15 | - | - | - | - | 4 | Gain | - |
TSPEAR | p.R67Afs*3 | Frame_Shift_Del | DEL | 0.474 | 2 | - | - |
TSPYL5 | - | - | - | - | 3 | Gain | - |
TSR3 | p.A294Lfs*28 | Frame_Shift_Del | DEL | 0.414 | 2 | - | - |
TSTA3 | - | - | - | - | 3 | Gain | - |
TTC14 | p.R459C | Missense | SNP | 0.321 | 2 | - | - |
TTC16 | p.R86H | Missense | SNP | 0.484 | 2 | - | - |
TTC30A | p.M601Dfs*5 | Frame_Shift_Del | DEL | 0.446 | 2 | - | - |
TTC37 | p.Y827* | Nonsense | SNP | 0.540 | 2 | - | - |
TTC39C | p.A444V | Missense | SNP | 0.652 | 3 | Gain | - |
TTC6 | p.L540Sfs*19 p.R923H | Frame_Shift_Del Missense | DEL SNP | 0.461 0.587 | 2 | - | - |
TTC7A | p.T733M | Missense | SNP | 0.471 | 2 | - | - |
TTI2 | - | - | - | - | 3 | Gain | - |
TTN | p.P13097Lfs*12 p.K9807Rfs*5 p.R13727H p.G5061S | Frame_Shift_Del Frame_Shift_Del Missense Missense | DEL DEL SNP SNP | 0.407 0.560 0.493 0.551 | 2 | - | - |
TTPA | - | - | - | - | 3 | Gain | - |
TTR | - | - | - | - | 3 | Gain | - |
TUBAL3 | - | - | - | - | 4 | Gain | - |
TUBB4B | - | - | - | - | 2 | - | AL139099.4--TUBB4B |
TUBB6 | - | - | - | - | 3 | Gain | - |
TUBB8 | - | - | - | - | 4 | Gain | - |
TUBGCP2 | - | - | - | - | 3 | Gain | - |
TUBGCP6 | p.P1371H p.R793C | Missense Missense | SNP SNP | 0.451 0.514 | 2 | - | - |
TUSC3 | - | - | - | - | 3 | Gain | - |
TVP23A | p.F140Lfs*7 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
TWNK | - | - | - | - | 4 | Gain | - |
TWSG1 | - | - | - | - | 3 | Gain | - |
TXNDC2 | - | - | - | - | 3 | Gain | - |
TXNL1 | - | - | - | - | 3 | Gain | - |
TXNL4A | p.G128S | Missense | SNP | 0.284 | 3 | Gain | - |
TYMS | - | - | - | - | 3 | Gain | - |
TYSND1 | - | - | - | - | 4 | Gain | - |
TYW1 | p.W154* | Nonsense | SNP | 0.472 | 2 | - | - |
UBA2 | p.A380T | Missense | SNP | 0.472 | 2 | - | - |
UBE2D1 | - | - | - | - | 4 | Gain | - |
UBE2V2 | - | - | - | - | 3 | Gain | - |
UBE2W | - | - | - | - | 3 | Gain | - |
UBR4 | p.R142* | Nonsense | SNP | 0.556 | 2 | - | - |
UBR5 | - | - | - | - | 3 | Gain | - |
UBTD1 | - | - | - | - | 4 | Gain | - |
UBXN2B | - | - | - | - | 3 | Gain | - |
UBXN8 | - | - | - | - | 3 | Gain | - |
UCMA | - | - | - | - | 4 | Gain | - |
UCN3 | - | - | - | - | 4 | Gain | - |
UGT1A8 | p.P264T | Missense | SNP | 0.540 | 2 | - | - |
UNC13A | p.R1566W p.R39W | Missense Missense | SNP SNP | 0.400 0.477 | 2 | - | - |
UNC5B | - | - | - | - | 4 | Gain | - |
UNC5D | - | - | - | - | 3 | Gain | - |
UNK | p.R123H | Missense | SNP | 0.419 | 2 | - | - |
UPF2 | - | - | - | - | 4 | Gain | - |
UPF3A | p.E267Rfs*13 | Frame_Shift_Del | DEL | 0.526 | 2 | - | - |
UPK3BL1 | - | - | - | - | 1 | Loss | - |
UQCRB | - | - | - | - | 3 | Gain | - |
UROS | p.F196Lfs*44 | Frame_Shift_Del | DEL | 0.258 | 4 | Gain | - |
USH2A | p.R310Q | Missense | SNP | 0.459 | 2 | - | - |
USP1 | p.N662Mfs*2 | Frame_Shift_Del | DEL | 0.296 | 2 | - | - |
USP11 | p.L338F | Missense | SNP | 0.333 | ND | ND | - |
USP14 | - | - | - | - | 3 | Gain | - |
USP2 | p.X413_splice | Splice_Site | INS | 0.294 | 2 | - | - |
USP40 | p.Q1160Tfs*20 | Frame_Shift_Ins | INS | 0.289 | 2 | - | - |
USP54 | - | - | - | - | 4 | Gain | - |
USP6NL | - | - | - | - | 4 | Gain | - |
USP9X | p.E2102K | Missense | SNP | 0.489 | ND | ND | - |
UTF1 | - | - | - | - | 3 | Gain | - |
UTP15 | p.L425* | Frame_Shift_Del | DEL | 0.530 | 2 | - | - |
UTP23 | - | - | - | - | 3 | Gain | - |
VAPA | - | - | - | - | 3 | Gain | - |
VAX1 | - | - | - | - | 4 | Gain | - |
VCAN | p.W1619* | Nonsense | SNP | 0.580 | 2 | - | - |
VCL | - | - | - | - | 4 | Gain | - |
VCPIP1 | - | - | - | - | 3 | Gain | - |
VDAC2 | - | - | - | - | 4 | Gain | - |
VDAC3 | - | - | - | - | 3 | Gain | - |
VENTX | - | - | - | - | 3 | Gain | - |
VEZF1 | p.V470I | Missense | SNP | 0.567 | 2 | - | - |
VIM | - | - | - | - | 4 | Gain | - |
VIRMA | - | - | - | - | 3 | Gain | - |
VPS13A | p.I1709Nfs*6 p.R161H | Frame_Shift_Ins Missense | INS SNP | 0.283 0.446 | 2 | - | - |
VPS13B | - | - | - | - | 3 | Gain | - |
VPS16 | p.R321H | Missense | SNP | 0.463 | 2 | - | - |
VPS18 | p.A889V | Missense | SNP | 0.495 | 2 | - | - |
VPS26A | - | - | - | - | 4 | Gain | - |
VPS28 | - | - | - | - | 3 | Gain | - |
VPS35 | p.S179Y | Missense | SNP | 0.412 | 2 | - | - |
VPS37A | - | - | - | - | 3 | Gain | - |
VPS4B | - | - | - | - | 3 | Gain | - |
VPS51 | p.V609M | Missense | SNP | 0.344 | 2 | - | - |
VPS8 | p.Q877H | Missense | SNP | 0.397 | 2 | - | - |
VSIR | - | - | - | - | 4 | Gain | - |
VSTM4 | - | - | - | - | 3 | Gain | - |
VSX2 | p.A52V | Missense | SNP | 0.390 | 2 | - | - |
VTI1A | - | - | - | - | 4 | Gain | - |
VWA2 | - | - | - | - | 4 | Gain | - |
VXN | - | - | - | - | 3 | Gain | - |
WAC | - | - | - | - | 4 | Gain | - |
WAPL | - | - | - | - | 4 | Gain | - |
WASHC2A | - | - | - | - | 4 | Gain | - |
WASHC2C | - | - | - | - | 3 | Gain | - |
WASHC5 | - | - | - | - | 3 | Gain | - |
WBP11 | p.G521Wfs*28 | Frame_Shift_Ins | INS | 0.249 | 2 | - | - |
WBP1L | - | - | - | - | 4 | Gain | - |
WDFY4 | - | - | - | - | 3 | Gain | - |
WDR11 | - | - | - | - | 4 | Gain | - |
WDR37 | - | - | - | - | 4 | Gain | - |
WDR47 | p.V693I | Missense | SNP | 0.491 | 2 | - | - |
WDR7 | - | - | - | - | 3 | Gain | - |
WDR97 | - | - | - | - | 3 | Gain | - |
WDTC1 | p.E290Tfs*6 p.V621M | Frame_Shift_Del Missense | DEL SNP | 0.475 0.401 | 2 | - | - |
WDYHV1 | - | - | - | - | 3 | Gain | - |
WFDC3 | p.R66* | Nonsense | SNP | 0.555 | 2 | - | - |
WISP1 | p.R161C | Missense | SNP | 0.681 | 3 | Gain | - |
WISP3 | p.K226Nfs*24 | Frame_Shift_Del | DEL | 0.497 | 2 | - | - |
WIZ | p.R234W | Missense | SNP | 0.477 | 2 | - | - |
WNK1 | p.P743T | Missense | SNP | 0.405 | 2 | - | - |
WNK3 | p.S649P p.A403S | Missense Missense | SNP SNP | 0.491 0.385 | ND | ND | - |
WNT2 | p.S95N | Missense | SNP | 0.487 | 2 | - | - |
WNT4 | p.K107Q | Missense | SNP | 0.439 | 2 | - | - |
WNT6 | p.D289N | Missense | SNP | 0.440 | 2 | - | - |
WNT8B | - | - | - | - | 4 | Gain | - |
WRN | - | - | - | - | 3 | Gain | - |
WSCD1 | p.R76Q | Missense | SNP | 0.414 | 2 | - | - |
WWC2 | p.M206Cfs*17 p.R380Q | Frame_Shift_Del Missense | DEL SNP | 0.492 0.555 | 2 | - | - |
WWP1 | - | - | - | - | 3 | Gain | - |
XIRP2 | p.N1589T | Missense | SNP | 0.467 | 2 | - | - |
XKR4 | - | - | - | - | 3 | Gain | - |
XKR5 | - | - | - | - | 3 | Gain | - |
XKR6 | - | - | - | - | 3 | Gain | - |
XKR9 | - | - | - | - | 3 | Gain | - |
XPNPEP1 | - | - | - | - | 4 | Gain | - |
XPO7 | - | - | - | - | 3 | Gain | - |
YES1 | - | - | - | - | 3 | Gain | - |
YLPM1 | p.G1063D | Missense | SNP | 0.459 | 2 | - | - |
YME1L1 | - | - | - | - | 4 | Gain | - |
YTHDF3 | - | - | - | - | 3 | Gain | - |
YWHAZ | - | - | - | - | 3 | Gain | - |
ZADH2 | - | - | - | - | 3 | Gain | - |
ZBTB1 | p.K524Sfs*25 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
ZBTB10 | - | - | - | - | 3 | Gain | - |
ZBTB14 | p.R30H | Missense | SNP | 0.280 | 3 | Gain | - |
ZBTB20 | p.P692Lfs*43 | Frame_Shift_Del | DEL | 0.172 | 2 | - | - |
ZBTB38 | p.R917C | Missense | SNP | 0.415 | 2 | - | - |
ZBTB4 | p.A958V | Missense | SNP | 0.545 | 2 | - | - |
ZBTB46 | p.G517D | Missense | SNP | 0.540 | 2 | - | - |
ZBTB7A | p.A559V | Missense | SNP | 0.343 | 2 | - | - |
ZBTB7C | - | - | - | - | 3 | Gain | - |
ZC2HC1A | - | - | - | - | 3 | Gain | - |
ZC3H3 | - | - | - | - | 3 | Gain | - |
ZCCHC2 | - | - | - | - | 3 | Gain | - |
ZCCHC24 | - | - | - | - | 4 | Gain | - |
ZCRB1 | p.K140Rfs*13 | Frame_Shift_Del | DEL | 0.253 | 2 | - | - |
ZDHHC16 | - | - | - | - | 4 | Gain | - |
ZDHHC18 | p.P367L | Missense | SNP | 0.458 | 2 | - | - |
ZDHHC2 | - | - | - | - | 3 | Gain | - |
ZDHHC5 | p.L657S | Missense | SNP | 0.473 | 2 | - | - |
ZDHHC6 | - | - | - | - | 4 | Gain | - |
ZEB1 | - | - | - | - | 4 | Gain | - |
ZFAND1 | - | - | - | - | 3 | Gain | - |
ZFAND4 | - | - | - | - | 3 | Gain | - |
ZFAT | - | - | - | - | 3 | Gain | - |
ZFHX4 | p.L411Cfs*4 p.P2057Hfs*26 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.556 0.556 | 3 | Gain | - |
ZFP36L2 | p.A229Rfs*245 p.G144Afs*43 | Frame_Shift_Ins Frame_Shift_Del | INS DEL | 0.234 0.432 | 2 | - | - |
ZFP41 | - | - | - | - | 3 | Gain | - |
ZFPM2 | - | - | - | - | 3 | Gain | - |
ZFYVE27 | - | - | - | - | 4 | Gain | - |
ZHX1 | - | - | - | - | 3 | Gain | - |
ZHX1-C8orf76 | - | - | - | - | 3 | Gain | - |
ZHX2 | - | - | - | - | 3 | Gain | - |
ZKSCAN2 | p.A166V | Missense | SNP | 0.654 | 2 | - | - |
ZMAT4 | - | - | - | - | 3 | Gain | - |
ZMIZ1 | - | - | - | - | 4 | Gain | - |
ZMYM3 | p.L85Afs*4 | Frame_Shift_Ins | INS | 0.306 | ND | ND | - |
ZMYM6 | p.N724Mfs*15 | Frame_Shift_Del | DEL | 0.507 | 2 | - | - |
ZMYND11 | - | - | - | - | 4 | Gain | - |
ZMYND8 | p.K655Sfs*14 | Frame_Shift_Del | DEL | 0.416 | 2 | - | - |
ZNF134 | p.E208K | Missense | SNP | 0.415 | 2 | - | - |
ZNF14 | p.R547* | Nonsense | SNP | 0.458 | 2 | - | - |
ZNF157 | p.K53N | Missense | SNP | 0.472 | ND | ND | - |
ZNF16 | - | - | - | - | 3 | Gain | - |
ZNF205 | p.A493V | Missense | SNP | 0.394 | 2 | - | - |
ZNF22 | - | - | - | - | 3 | Gain | - |
ZNF236 | - | - | - | - | 3 | Gain | - |
ZNF239 | - | - | - | - | 3 | Gain | - |
ZNF24 | - | - | - | - | 3 | Gain | - |
ZNF248 | - | - | - | - | 4 | Gain | - |
ZNF25 | - | - | - | - | 4 | Gain | - |
ZNF250 | - | - | - | - | 3 | Gain | - |
ZNF251 | - | - | - | - | 3 | Gain | - |
ZNF3 | p.T99Rfs*4 | Frame_Shift_Del | DEL | 0.415 | 2 | - | - |
ZNF32 | - | - | - | - | 3 | Gain | - |
ZNF33A | - | - | - | - | 4 | Gain | - |
ZNF33B | - | - | - | - | 3 | Gain | - |
ZNF34 | - | - | - | - | 3 | Gain | - |
ZNF365 | - | - | - | - | 4 | Gain | - |
ZNF37A | - | - | - | - | 4 | Gain | - |
ZNF384 | p.P517S | Missense | SNP | 0.456 | 2 | - | - |
ZNF395 | - | - | - | - | 3 | Gain | - |
ZNF396 | - | - | - | - | 3 | Gain | - |
ZNF397 | - | - | - | - | 3 | Gain | - |
ZNF407 | - | - | - | - | 3 | Gain | - |
ZNF438 | - | - | - | - | 4 | Gain | - |
ZNF441 | p.P418S | Missense | SNP | 0.521 | 2 | - | - |
ZNF460 | p.P447L | Missense | SNP | 0.469 | 2 | - | - |
ZNF485 | - | - | - | - | 3 | Gain | - |
ZNF487 | - | - | - | - | 3 | Gain | - |
ZNF488 | - | - | - | - | 3 | Gain | - |
ZNF503 | - | - | - | - | 4 | Gain | - |
ZNF511 | - | - | - | - | 3 | Gain | - |
ZNF511-PRAP1 | - | - | - | - | 3 | Gain | - |
ZNF513 | p.R489H | Missense | SNP | 0.496 | 2 | - | - |
ZNF516 | - | - | - | - | 3 | Gain | - |
ZNF517 | - | - | - | - | 3 | Gain | - |
ZNF518A | - | - | - | - | 4 | Gain | - |
ZNF519 | - | - | - | - | 3 | Gain | - |
ZNF521 | - | - | - | - | 3 | Gain | - |
ZNF532 | p.R421Gfs*9 | Frame_Shift_Del | DEL | 0.538 | 3 | Gain | - |
ZNF549 | p.G97V | Missense | SNP | 0.206 | 2 | - | - |
ZNF552 | p.S172N | Missense | SNP | 0.467 | 2 | - | - |
ZNF567 | p.H253Tfs*5 | Frame_Shift_Ins | INS | 0.285 | 2 | - | - |
ZNF572 | - | - | - | - | 3 | Gain | - |
ZNF596 | - | - | - | - | 3 | Gain | - |
ZNF615 | p.G361R | Missense | SNP | 0.411 | 2 | - | - |
ZNF616 | p.T209Rfs*8 | Frame_Shift_Del | DEL | 0.522 | 2 | - | - |
ZNF623 | - | - | - | - | 3 | Gain | - |
ZNF687 | p.E930del | In_Frame_Del | DEL | 0.406 | 2 | - | - |
ZNF696 | - | - | - | - | 3 | Gain | - |
ZNF7 | - | - | - | - | 3 | Gain | - |
ZNF701 | - | - | - | - | 1 | Loss | - |
ZNF703 | p.A472T | Missense | SNP | 0.255 | 3 | Gain | - |
ZNF704 | - | - | - | - | 3 | Gain | - |
ZNF706 | - | - | - | - | 3 | Gain | - |
ZNF707 | - | - | - | - | 3 | Gain | - |
ZNF71 | p.R107H | Missense | SNP | 0.545 | 2 | - | - |
ZNF710 | p.R386C | Missense | SNP | 0.532 | 2 | - | - |
ZNF74 | p.A447T | Missense | SNP | 0.469 | 2 | - | - |
ZNF777 | p.R566C | Missense | SNP | 0.392 | 2 | - | - |
ZNF786 | p.R377C | Missense | SNP | 0.370 | 2 | - | - |
ZNF792 | p.T222I | Missense | SNP | 0.442 | 2 | - | - |
ZNF808 | - | - | - | - | 1 | Loss | - |
ZNF813 | p.S108N | Missense | SNP | 0.472 | 2 | - | - |
ZNF814 | p.K350Nfs*121 | Frame_Shift_Del | DEL | 0.278 | 2 | - | - |
ZNF83 | - | - | - | - | 1 | Loss | - |
ZNF865 | p.A462T p.S672L | Missense Missense | SNP SNP | 0.447 0.403 | 2 | - | - |
ZNF880 | p.A332T | Missense | SNP | 0.412 | 2 | - | - |
ZRANB1 | - | - | - | - | 4 | Gain | - |
ZSCAN30 | - | - | - | - | 3 | Gain | - |
ZSWIM4 | p.R679Q | Missense | SNP | 0.472 | 2 | - | - |
ZSWIM8 | - | - | - | - | 4 | Gain | - |
ZWINT | - | - | - | - | 4 | Gain | - |