Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | No Data |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
A1CF | - | - | - | - | 3 | Gain | ND |
ABCA4 | p.A1695T | Missense | SNP | 0.316 | 2 | - | ND |
ABCB4 | p.S339Qfs*3 | Frame_Shift_Del | DEL | 0.633 | 2 | - | ND |
ABCB6 | p.G318Vfs*9 p.R634C | Frame_Shift_Del Missense | DEL SNP | 0.457 0.210 | 2 | - | ND |
ABCB8 | p.A704T | Missense | SNP | 0.141 | 2 | - | ND |
ABCC10 | p.Q369* | Nonsense | SNP | 0.439 | 2 | - | ND |
ABCC2 | - | - | - | - | 3 | Gain | ND |
ABCC4 | p.I1219Sfs*11 | Frame_Shift_Del | DEL | 0.228 | 2 | - | ND |
ABCG2 | - | - | - | - | 1 | Loss | ND |
ABCG8 | p.T401M | Missense | SNP | 0.556 | 2 | - | ND |
ABHD17B | p.A245T | Missense | SNP | 0.157 | 2 | - | ND |
ABHD3 | - | - | - | - | 3 | Gain | ND |
ABI1 | - | - | - | - | 3 | Gain | ND |
ABLIM1 | - | - | - | - | 3 | Gain | ND |
ABRAXAS1 | - | - | - | - | 1 | Loss | ND |
ABRAXAS2 | - | - | - | - | 3 | Gain | ND |
AC007998.2 | - | - | - | - | 3 | Gain | ND |
AC012254.2 | - | - | - | - | 3 | Gain | ND |
AC022400.6 | - | - | - | - | 3 | Gain | ND |
AC067752.1 | - | - | - | - | 3 | Gain | ND |
AC068896.1 | - | - | - | - | 3 | Gain | ND |
AC090227.1 | - | - | - | - | 3 | Gain | ND |
AC090360.1 | - | - | - | - | 3 | Gain | ND |
AC091551.1 | - | - | - | - | 3 | Gain | ND |
AC093827.5 | - | - | - | - | 1 | Loss | ND |
AC098582.1 | - | - | - | - | 1 | Loss | ND |
ACAA2 | - | - | - | - | 3 | Gain | ND |
ACAD11 | p.R127Q | Missense | SNP | 0.615 | 2 | - | ND |
ACADSB | - | - | - | - | 3 | Gain | ND |
ACBD5 | - | - | - | - | 3 | Gain | ND |
ACBD7 | - | - | - | - | 3 | Gain | ND |
ACSL5 | - | - | - | - | 3 | Gain | ND |
ACSM6 | - | - | - | - | 3 | Gain | ND |
ACTA2 | - | - | - | - | 3 | Gain | ND |
ACTB | p.P332S | Missense | SNP | 0.431 | 2 | - | ND |
ACTR1A | - | - | - | - | 3 | Gain | ND |
ACTR2 | p.R354C | Missense | SNP | 0.473 | 2 | - | ND |
ACVR2A | p.K437Rfs*5 | Frame_Shift_Del | DEL | 0.424 | 2 | - | ND |
ADAM12 | - | - | - | - | 3 | Gain | ND |
ADAM20 | p.R103Qfs*12 | Frame_Shift_Ins | INS | 0.327 | 2 | - | ND |
ADAM21 | p.V339M | Missense | SNP | 0.517 | 2 | - | ND |
ADAM8 | - | - | - | - | 3 | Gain | ND |
ADAMDEC1 | p.K341Rfs*7 | Frame_Shift_Del | DEL | 0.142 | 2 | - | ND |
ADAMTS14 | - | - | - | - | 3 | Gain | ND |
ADAMTS9 | p.R1350W p.P82H | Missense Missense | SNP SNP | 0.236 0.183 | 2 | - | ND |
ADARB2 | - | - | - | - | 3 | Gain | ND |
ADCY5 | p.D192_S193del | In_Frame_Del | DEL | 0.441 | 2 | - | ND |
ADCYAP1 | p.X37_splice | Splice_Site | SNP | 0.204 | 3 | Gain | ND |
ADD1 | p.K752del | In_Frame_Del | DEL | 0.234 | 2 | - | ND |
ADD2 | p.R134Q | Missense | SNP | 0.463 | 2 | - | ND |
ADD3 | p.R434C | Missense | SNP | 0.701 | 3 | Gain | ND |
ADGRA1 | - | - | - | - | 3 | Gain | ND |
ADGRF5 | p.Y1113H | Missense | SNP | 0.451 | 2 | - | ND |
ADGRL3 | p.V963Cfs*39 | Frame_Shift_Del | DEL | 0.491 | 2 | - | ND |
ADIRF | - | - | - | - | 3 | Gain | ND |
ADK | - | - | - | - | 3 | Gain | ND |
ADNP2 | - | - | - | - | 3 | Gain | ND |
ADO | - | - | - | - | 3 | Gain | ND |
ADRA2A | - | - | - | - | 3 | Gain | ND |
ADRB1 | - | - | - | - | 3 | Gain | ND |
AEBP1 | p.Q255Afs*21 | Frame_Shift_Ins | INS | 0.332 | 2 | - | ND |
AFAP1L2 | - | - | - | - | 3 | Gain | ND |
AFF1 | - | - | - | - | 1 | Loss | ND |
AFG3L2 | - | - | - | - | 3 | Gain | ND |
AFMID | p.G71S | Missense | SNP | 0.463 | 2 | - | ND |
AGAP2 | p.V630M | Missense | SNP | 0.410 | 2 | - | ND |
AGAP4 | - | - | - | - | 3 | Gain | ND |
AGAP5 | - | - | - | - | 3 | Gain | ND |
AGAP6 | - | - | - | - | 3 | Gain | ND |
AGAP9 | - | - | - | - | 3 | Gain | ND |
AGL | p.N1304Kfs*7 | Frame_Shift_Ins | INS | 0.293 | 2 | - | ND |
AGO1 | p.L17Cfs*99 | Frame_Shift_Del | DEL | 0.429 | 2 | - | ND |
AHCYL2 | p.R142H | Missense | SNP | 0.264 | 2 | - | ND |
AHRR | p.R401M | Missense | SNP | 0.360 | 2 | - | ND |
AIF1 | p.P137H | Missense | SNP | 0.544 | 2 | - | ND |
AIFM2 | - | - | - | - | 3 | Gain | ND |
AIFM3 | p.V462M | Missense | SNP | 0.154 | 2 | - | ND |
AIM1 | p.P734L | Missense | SNP | 0.492 | ND | ND | ND |
AKAIN1 | - | - | - | - | 3 | Gain | ND |
AKAP9 | p.K39Rfs*17 p.V3673A | Frame_Shift_Del Missense | DEL SNP | 0.512 0.476 | 2 | - | ND |
AKR1B1 | p.A209T | Missense | SNP | 0.628 | 2 | - | ND |
AKR1C1 | - | - | - | - | 3 | Gain | ND |
AKR1C2 | - | - | - | - | 3 | Gain | ND |
AKR1C3 | - | - | - | - | 3 | Gain | ND |
AKR1C4 | - | - | - | - | 3 | Gain | ND |
AKR1C8P | - | - | - | - | 3 | Gain | ND |
AKR1E2 | - | - | - | - | 3 | Gain | ND |
AL117339.5 | - | - | - | - | 3 | Gain | ND |
AL133352.1 | - | - | - | - | 3 | Gain | ND |
AL133353.2 | - | - | - | - | 3 | Gain | ND |
AL157392.5 | - | - | - | - | 3 | Gain | ND |
AL355315.1 | - | - | - | - | 3 | Gain | ND |
AL356053.1 | p.I188* | Frame_Shift_Del | DEL | 0.269 | ND | ND | ND |
AL360181.3 | - | - | - | - | 3 | Gain | ND |
AL365273.2 | - | - | - | - | 3 | Gain | ND |
AL583836.1 | - | - | - | - | 3 | Gain | ND |
ALDH18A1 | - | - | - | - | 3 | Gain | ND |
ALDH1A2 | p.R85C | Missense | SNP | 0.527 | 2 | - | ND |
ALDH3B2 | p.L213M | Missense | SNP | 0.450 | 2 | - | ND |
ALDOC | p.R22Q | Missense | SNP | 0.404 | 2 | - | ND |
ALKBH4 | p.C267Y | Missense | SNP | 0.577 | 2 | - | ND |
ALOX5 | - | - | - | - | 3 | Gain | ND |
ALPK2 | - | - | - | - | 3 | Gain | ND |
ALS2CR11 | p.N837Ifs*9 p.K729Nfs*4 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.511 0.202 | ND | ND | ND |
AMFR | p.R580H | Missense | SNP | 0.329 | 2 | - | ND |
AMT | p.L155I | Missense | SNP | 0.439 | 2 | - | ND |
ANAPC16 | - | - | - | - | 3 | Gain | ND |
ANGPT2 | p.I234* | Frame_Shift_Del | DEL | 0.355 | 2 | - | ND |
ANK2 | p.A1819V | Missense | SNP | 0.485 | 2 | - | ND |
ANK3 | - | - | - | - | 3 | Gain | ND |
ANKFN1 | p.R763K | Missense | SNP | 0.515 | 2 | - | ND |
ANKRD1 | - | - | - | - | 3 | Gain | ND |
ANKRD11 | p.A2265Pfs*72 | Frame_Shift_Del | DEL | 0.568 | 2 | - | ND |
ANKRD12 | - | - | - | - | 3 | Gain | ND |
ANKRD16 | - | - | - | - | 3 | Gain | ND |
ANKRD2 | - | - | - | - | 3 | Gain | ND |
ANKRD22 | - | - | - | - | 3 | Gain | ND |
ANKRD26 | - | - | - | - | 3 | Gain | ND |
ANKRD27 | p.H464Y | Missense | SNP | 0.521 | 2 | - | ND |
ANKRD29 | - | - | - | - | 3 | Gain | ND |
ANKRD30A | - | - | - | - | 3 | Gain | ND |
ANKRD30B | - | - | - | - | 3 | Gain | ND |
ANKRD31 | p.G512Vfs*20 | Frame_Shift_Del | DEL | 0.575 | 2 | - | ND |
ANKRD62 | - | - | - | - | 3 | Gain | ND |
ANKS1A | p.T961M | Missense | SNP | 0.165 | 2 | - | ND |
ANKS3 | p.R550H | Missense | SNP | 0.375 | 2 | - | ND |
ANO4 | p.A294V | Missense | SNP | 0.175 | 2 | - | ND |
ANO6 | p.V698I | Missense | SNP | 0.440 | 2 | - | ND |
ANTXR2 | - | - | - | - | 1 | Loss | ND |
ANTXRL | - | - | - | - | 3 | Gain | ND |
ANXA11 | - | - | - | - | 3 | Gain | ND |
ANXA3 | - | - | - | - | 1 | Loss | ND |
ANXA7 | - | - | - | - | 3 | Gain | ND |
ANXA8 | - | - | - | - | 3 | Gain | ND |
ANXA8L1 | - | - | - | - | 3 | Gain | ND |
AOC1 | p.R190Gfs*18 | Frame_Shift_Del | DEL | 0.425 | 2 | - | ND |
AP1G1 | p.R8W | Missense | SNP | 0.455 | 2 | - | ND |
AP2A2 | p.P670Lfs*67 p.A376T | Frame_Shift_Del Missense | DEL SNP | 0.286 0.528 | 2 | - | ND |
AP3M1 | - | - | - | - | 3 | Gain | ND |
APBB1IP | - | - | - | - | 3 | Gain | ND |
APC | p.E902K p.P1604L | Missense Missense | SNP SNP | 0.521 0.526 | 2 | - | ND |
APCDD1 | - | - | - | - | 3 | Gain | ND |
APOBR | p.G267C | Missense | SNP | 0.473 | 2 | - | ND |
APOL2 | p.R87Q | Missense | SNP | 0.473 | 2 | - | ND |
AQP2 | p.T125M | Missense | SNP | 0.600 | 2 | - | ND |
AQP4 | - | - | - | - | 3 | Gain | ND |
ARAP2 | p.A469T p.G250* | Missense Nonsense | SNP SNP | 0.542 0.549 | 2 | - | ND |
AREG | - | - | - | - | 1 | Loss | ND |
ARGLU1 | p.R45H p.A186T | Missense Missense | SNP SNP | 0.448 0.511 | 2 | - | ND |
ARHGAP12 | - | - | - | - | 3 | Gain | ND |
ARHGAP19 | - | - | - | - | 3 | Gain | ND |
ARHGAP19-SLIT1 | - | - | - | - | 3 | Gain | ND |
ARHGAP21 | - | - | - | - | 3 | Gain | ND |
ARHGAP22 | - | - | - | - | 3 | Gain | ND |
ARHGAP24 | - | - | - | - | 1 | Loss | ND |
ARHGAP28 | - | - | - | - | 3 | Gain | ND |
ARHGAP39 | p.V443I | Missense | SNP | 0.370 | 2 | - | ND |
ARHGAP6 | p.G745R p.R433Q | Missense Missense | SNP SNP | 0.484 0.400 | ND | ND | ND |
ARHGEF1 | p.D382N | Missense | SNP | 0.419 | 2 | - | ND |
ARHGEF10L | p.T495M | Missense | SNP | 0.514 | 2 | - | ND |
ARHGEF40 | p.R1076Gfs*18 | Frame_Shift_Del | DEL | 0.371 | 2 | - | ND |
ARID1A | p.P1175Hfs*5 p.D1850Gfs*4 p.X751_splice | Frame_Shift_Del Frame_Shift_Ins Splice_Site | DEL INS SNP | 0.470 0.332 0.446 | 2 | - | ND |
ARID1B | p.Q1810* | Nonsense | SNP | 0.509 | 2 | - | ND |
ARID3A | p.X499_splice | Splice_Site | SNP | 0.446 | 2 | - | ND |
ARID4B | p.Q1041* | Nonsense | SNP | 0.496 | 2 | - | ND |
ARID5B | - | - | - | - | 3 | Gain | ND |
ARL2 | p.R78Q | Missense | SNP | 0.497 | 2 | - | ND |
ARL3 | - | - | - | - | 3 | Gain | ND |
ARL5B | - | - | - | - | 3 | Gain | ND |
ARMC3 | - | - | - | - | 3 | Gain | ND |
ARMC4 | - | - | - | - | 3 | Gain | ND |
ARMC9 | p.G2R | Missense | SNP | 0.193 | 2 | - | ND |
ARMH3 | - | - | - | - | 3 | Gain | ND |
ARMS2 | - | - | - | - | 3 | Gain | ND |
ART3 | - | - | - | - | 1 | Loss | ND |
AS3MT | - | - | - | - | 3 | Gain | ND |
ASAH2 | - | - | - | - | 3 | Gain | ND |
ASAH2B | - | - | - | - | 3 | Gain | ND |
ASB11 | p.L32Ffs*14 | Frame_Shift_Ins | INS | 0.283 | ND | ND | ND |
ASB13 | - | - | - | - | 3 | Gain | ND |
ASCC1 | - | - | - | - | 3 | Gain | ND |
ASH1L | p.I1341N | Missense | SNP | 0.468 | 2 | - | ND |
ASXL2 | p.V912I | Missense | SNP | 0.189 | 2 | - | ND |
ASXL3 | - | - | - | - | 3 | Gain | ND |
ATAD1 | - | - | - | - | 3 | Gain | ND |
ATE1 | - | - | - | - | 3 | Gain | ND |
ATOH7 | - | - | - | - | 3 | Gain | ND |
ATP10A | p.T1205Pfs*4 | Frame_Shift_Del | DEL | 0.222 | 2 | - | ND |
ATP5F1A | - | - | - | - | 3 | Gain | ND |
ATP5F1C | - | - | - | - | 3 | Gain | ND |
ATP5MD | - | - | - | - | 3 | Gain | ND |
ATP6V1D | p.R30Q | Missense | SNP | 0.423 | 2 | - | ND |
ATP8A1 | p.R725H | Missense | SNP | 0.480 | 2 | - | ND |
ATP8A2 | p.V506M | Missense | SNP | 0.539 | 2 | - | ND |
ATP8B1 | - | - | - | - | 3 | Gain | ND |
ATP9B | - | - | - | - | 3 | Gain | ND |
ATRNL1 | - | - | - | - | 3 | Gain | ND |
AVIL | p.G118Vfs*6 p.T480M | Frame_Shift_Del Missense | DEL SNP | 0.486 0.542 | 2 | - | ND |
AVL9 | p.G397A | Missense | SNP | 0.400 | 2 | - | ND |
AVPI1 | - | - | - | - | 3 | Gain | ND |
B3GNT6 | p.G221D | Missense | SNP | 0.528 | 2 | - | ND |
B4GALNT4 | p.T982M | Missense | SNP | 0.512 | 2 | - | ND |
B4GALT6 | - | - | - | - | 3 | Gain | ND |
BAG3 | p.R170W | Missense | SNP | 0.170 | 3 | Gain | ND |
BAHCC1 | p.G1603R | Missense | SNP | 0.521 | 2 | - | ND |
BAIAP2L2 | p.V396M | Missense | SNP | 0.509 | 2 | - | ND |
BAIAP3 | p.R785W | Missense | SNP | 0.144 | 2 | - | ND |
BAMBI | - | - | - | - | 3 | Gain | ND |
BANP | p.A232T | Missense | SNP | 0.618 | 2 | - | ND |
BBIP1 | - | - | - | - | 3 | Gain | ND |
BBOX1 | p.V74Gfs*8 | Frame_Shift_Ins | INS | 0.101 | 2 | - | ND |
BCAR3 | p.N733Tfs*9 | Frame_Shift_Del | DEL | 0.058 | 2 | - | ND |
BCAS3 | p.G891Efs*76 | Frame_Shift_Del | DEL | 0.213 | 2 | - | ND |
BCCIP | - | - | - | - | 3 | Gain | ND |
BCHE | p.N134Mfs*5 | Frame_Shift_Del | DEL | 0.699 | 2 | - | ND |
BCKDHA | p.T211M | Missense | SNP | 0.580 | 2 | - | ND |
BCL2 | - | - | - | - | 3 | Gain | ND |
BCL9L | p.P1127Hfs*21 p.A77Gfs*14 | Frame_Shift_Del Frame_Shift_Ins | DEL INS | 0.482 0.254 | 2 | - | ND |
BCR | p.R232W | Missense | SNP | 0.450 | 2 | - | ND |
BEND3 | p.P494Rfs*46 | Frame_Shift_Del | DEL | 0.233 | 2 | - | ND |
BEND7 | - | - | - | - | 3 | Gain | ND |
BICC1 | - | - | - | - | 3 | Gain | ND |
BIRC7 | p.Q54* | Nonsense | SNP | 0.465 | 2 | - | ND |
BLNK | - | - | - | - | 3 | Gain | ND |
BLOC1S2 | - | - | - | - | 3 | Gain | ND |
BMI1 | - | - | - | - | 3 | Gain | ND |
BMP1 | p.R721* | Nonsense | SNP | 0.177 | 2 | - | ND |
BMP2K | - | - | - | - | 1 | Loss | ND |
BMP3 | - | - | - | - | 1 | Loss | ND |
BMPR1A | - | - | - | - | 3 | Gain | ND |
BMS1 | - | - | - | - | 3 | Gain | ND |
BNIP3 | - | - | - | - | 3 | Gain | ND |
BOD1L1 | p.E2153K | Missense | SNP | 0.245 | 2 | - | ND |
BOD1L2 | - | - | - | - | 3 | Gain | ND |
BOP1 | - | - | - | - | 1 | Loss | ND |
BORCS7 | - | - | - | - | 3 | Gain | ND |
BORCS7-ASMT | - | - | - | - | 3 | Gain | ND |
BPIFB4 | p.V74Sfs*9 p.R289W | Frame_Shift_Ins Missense | INS SNP | 0.254 0.503 | 2 | - | ND |
BRD4 | p.R444C | Missense | SNP | 0.407 | 2 | - | ND |
BRPF1 | p.Q938Sfs*5 | Frame_Shift_Del | DEL | 0.394 | 2 | - | ND |
BRSK1 | p.R379Gfs*9 | Frame_Shift_Del | DEL | 0.181 | 2 | - | ND |
BTAF1 | - | - | - | - | 3 | Gain | ND |
BTBD16 | - | - | - | - | 3 | Gain | ND |
BTC | - | - | - | - | 1 | Loss | ND |
BTRC | - | - | - | - | 3 | Gain | ND |
BUB3 | - | - | - | - | 3 | Gain | ND |
C10orf105 | - | - | - | - | 3 | Gain | ND |
C10orf113 | - | - | - | - | 3 | Gain | ND |
C10orf120 | - | - | - | - | 3 | Gain | ND |
C10orf53 | - | - | - | - | 3 | Gain | ND |
C10orf55 | - | - | - | - | 3 | Gain | ND |
C10orf62 | - | - | - | - | 3 | Gain | ND |
C10orf67 | - | - | - | - | 3 | Gain | ND |
C10orf71 | - | - | - | - | 3 | Gain | ND |
C10orf82 | - | - | - | - | 3 | Gain | ND |
C10orf88 | - | - | - | - | 3 | Gain | ND |
C10orf90 | - | - | - | - | 3 | Gain | ND |
C10orf99 | - | - | - | - | 3 | Gain | ND |
C15orf52 | p.M99Wfs*3 | Frame_Shift_Del | DEL | 0.235 | ND | ND | ND |
C17orf74 | p.P442Rfs*25 | Frame_Shift_Del | DEL | 0.323 | ND | ND | ND |
C18orf21 | - | - | - | - | 3 | Gain | ND |
C18orf25 | - | - | - | - | 3 | Gain | ND |
C18orf32 | - | - | - | - | 3 | Gain | ND |
C18orf54 | - | - | - | - | 3 | Gain | ND |
C18orf63 | - | - | - | - | 3 | Gain | ND |
C18orf8 | p.C394Hfs*4 | Frame_Shift_Del | DEL | 0.515 | ND | ND | ND |
C19orf70 | p.A73Pfs*39 | Frame_Shift_Del | DEL | 0.382 | 2 | - | ND |
C1D | p.N120Mfs*61 | Frame_Shift_Del | DEL | 0.519 | 2 | - | ND |
C1QB | p.C31Y | Missense | SNP | 0.418 | 2 | - | ND |
C1QL3 | p.R180H | Missense | SNP | 0.285 | 3 | Gain | ND |
C21orf58 | p.T203M | Missense | SNP | 0.465 | 2 | - | ND |
C2CD5 | p.R183H | Missense | SNP | 0.160 | 2 | - | ND |
C4orf36 | - | - | - | - | 1 | Loss | ND |
C5orf42 | p.Y607Tfs*6 | Frame_Shift_Del | DEL | 0.229 | ND | ND | ND |
C6orf89 | p.Q61Afs*10 | Frame_Shift_Ins | INS | 0.156 | 2 | - | ND |
C9orf66 | p.H283Pfs*22 | Frame_Shift_Ins | INS | 0.146 | 2 | - | ND |
CABCOCO1 | - | - | - | - | 3 | Gain | ND |
CABIN1 | p.G1834Afs*72 | Frame_Shift_Del | DEL | 0.167 | 2 | - | ND |
CABLES1 | - | - | - | - | 3 | Gain | ND |
CABYR | - | - | - | - | 3 | Gain | ND |
CACNA1E | p.R1594H | Missense | SNP | 0.476 | 2 | - | ND |
CACNA1I | p.P665L | Missense | SNP | 0.438 | 2 | - | ND |
CACNB2 | p.T254M p.R608H | Missense Missense | SNP SNP | 0.284 0.691 | 3 | Gain | ND |
CACUL1 | - | - | - | - | 3 | Gain | ND |
CAD | p.R2064C | Missense | SNP | 0.429 | 2 | - | ND |
CALCRL | p.F16Lfs*2 | Frame_Shift_Del | DEL | 0.375 | 2 | - | ND |
CALHM1 | p.R228H | Missense | SNP | 0.160 | 3 | Gain | ND |
CALHM2 | - | - | - | - | 3 | Gain | ND |
CALHM3 | - | - | - | - | 3 | Gain | ND |
CALML3 | - | - | - | - | 3 | Gain | ND |
CALML5 | - | - | - | - | 3 | Gain | ND |
CALY | - | - | - | - | 3 | Gain | ND |
CAMK1D | - | - | - | - | 3 | Gain | ND |
CAMK2B | p.A558V | Missense | SNP | 0.316 | 2 | - | ND |
CAMK2G | - | - | - | - | 3 | Gain | ND |
CAMKK1 | p.R510* | Nonsense | SNP | 0.465 | 2 | - | ND |
CAMSAP2 | p.R1179W | Missense | SNP | 0.350 | 2 | - | ND |
CAMTA2 | p.P889Lfs*9 p.P547L | Frame_Shift_Del Missense | DEL SNP | 0.433 0.512 | 2 | - | ND |
CANX | p.R274H | Missense | SNP | 0.492 | 2 | - | ND |
CAPN6 | p.D37N | Missense | SNP | 0.264 | ND | ND | ND |
CARD14 | p.E929K | Missense | SNP | 0.432 | 2 | - | ND |
CARS | p.R453L | Missense | SNP | 0.520 | 2 | - | ND |
CASC1 | p.I554M | Missense | SNP | 0.311 | 2 | - | ND |
CASC10 | - | - | - | - | 3 | Gain | ND |
CASP7 | - | - | - | - | 3 | Gain | ND |
CASR | p.R220W | Missense | SNP | 0.130 | 2 | - | ND |
CASS4 | p.R67H | Missense | SNP | 0.493 | 2 | - | ND |
CASZ1 | p.T715M | Missense | SNP | 0.547 | 2 | - | ND |
CATIP | p.A255T | Missense | SNP | 0.531 | 2 | - | ND |
CBFA2T2 | p.E402D | Missense | SNP | 0.466 | 2 | - | ND |
CBLN2 | - | - | - | - | 3 | Gain | ND |
CC2D2B | - | - | - | - | 3 | Gain | ND |
CCAR1 | p.Q596* | Nonsense | SNP | 0.333 | 3 | Gain | ND |
CCBE1 | p.V92I | Missense | SNP | 0.263 | 3 | Gain | ND |
CCDC102B | p.I270Nfs*31 | Frame_Shift_Ins | INS | 0.330 | 3 | Gain | ND |
CCDC124 | p.R18C | Missense | SNP | 0.302 | 2 | - | ND |
CCDC150 | p.S317Y p.R971Q | Missense Missense | SNP SNP | 0.266 0.474 | 2 | - | ND |
CCDC151 | p.R376W | Missense | SNP | 0.262 | 2 | - | ND |
CCDC153 | p.P200Lfs*4 | Frame_Shift_Del | DEL | 0.321 | 2 | - | ND |
CCDC158 | - | - | - | - | 1 | Loss | ND |
CCDC168 | p.Q3471Tfs*12 p.N2569Kfs*26 p.L5549M | Frame_Shift_Ins Frame_Shift_Ins Missense | INS INS SNP | 0.305 0.281 0.262 | 2 | - | ND |
CCDC172 | - | - | - | - | 3 | Gain | ND |
CCDC178 | - | - | - | - | 3 | Gain | ND |
CCDC186 | - | - | - | - | 3 | Gain | ND |
CCDC191 | p.E82D | Missense | SNP | 0.309 | 2 | - | ND |
CCDC3 | - | - | - | - | 3 | Gain | ND |
CCDC6 | - | - | - | - | 3 | Gain | ND |
CCDC68 | - | - | - | - | 3 | Gain | ND |
CCDC7 | - | - | - | - | 3 | Gain | ND |
CCDC74B | - | - | - | - | 1 | Loss | ND |
CCDC83 | p.I184T | Missense | SNP | 0.242 | 2 | - | ND |
CCDC96 | p.R524H | Missense | SNP | 0.534 | 2 | - | ND |
CCER2 | p.E232del | In_Frame_Del | DEL | 0.407 | 2 | - | ND |
CCNG2 | - | - | - | - | 1 | Loss | ND |
CCNI | - | - | - | - | 1 | Loss | ND |
CCNJ | - | - | - | - | 3 | Gain | ND |
CCNY | - | - | - | - | 3 | Gain | ND |
CCR7 | p.A238V | Missense | SNP | 0.264 | 2 | - | ND |
CCSER1 | p.F428Lfs*29 | Frame_Shift_Del | DEL | 0.222 | 1 | Loss | ND |
CCSER2 | - | - | - | - | 3 | Gain | ND |
CCT2 | p.R376C | Missense | SNP | 0.532 | 2 | - | ND |
CD163L1 | p.P890L | Missense | SNP | 0.484 | 2 | - | ND |
CD19 | p.X120_splice | Splice_Site | DEL | 0.556 | 2 | - | ND |
CD226 | - | - | - | - | 3 | Gain | ND |
CD55 | p.T363M | Missense | SNP | 0.298 | 2 | - | ND |
CD79A | p.R131Gfs*61 | Frame_Shift_Del | DEL | 0.446 | 2 | - | ND |
CDC123 | - | - | - | - | 3 | Gain | ND |
CDC42EP4 | p.V144M | Missense | SNP | 0.459 | 2 | - | ND |
CDH10 | p.E641Sfs*3 | Frame_Shift_Del | DEL | 0.135 | 2 | - | ND |
CDH17 | p.S645Lfs*3 | Frame_Shift_Del | DEL | 0.349 | 2 | - | ND |
CDH19 | - | - | - | - | 3 | Gain | ND |
CDH2 | - | - | - | - | 3 | Gain | ND |
CDH20 | - | - | - | - | 3 | Gain | ND |
CDH23 | - | - | - | - | 3 | Gain | ND |
CDH7 | p.R264Q p.G393E | Missense Missense | SNP SNP | 0.656 0.120 | 3 | Gain | ND |
CDHR1 | - | - | - | - | 3 | Gain | ND |
CDK1 | - | - | - | - | 3 | Gain | ND |
CDK19 | p.S62L | Missense | SNP | 0.385 | 2 | - | ND |
CDKL2 | - | - | - | - | 1 | Loss | ND |
CDKN2B | p.L93Pfs*70 | Frame_Shift_Ins | INS | 0.253 | 2 | - | ND |
CDNF | - | - | - | - | 3 | Gain | ND |
CDS1 | - | - | - | - | 1 | Loss | ND |
CDSN | p.F163S | Missense | SNP | 0.263 | 2 | - | ND |
CEL | p.P727Lfs*34 | Frame_Shift_Del | DEL | 0.132 | 2 | - | ND |
CELF2 | - | - | - | - | 3 | Gain | ND |
CELF3 | p.V279I | Missense | SNP | 0.540 | 2 | - | ND |
CELF4 | - | - | - | - | 3 | Gain | ND |
CELSR2 | p.A1152V | Missense | SNP | 0.232 | 2 | - | ND |
CELSR3 | p.R1336H | Missense | SNP | 0.385 | 2 | - | ND |
CEP192 | p.R763C | Missense | SNP | 0.292 | 3 | Gain | ND |
CEP250 | p.V728I | Missense | SNP | 0.529 | 2 | - | ND |
CEP55 | - | - | - | - | 3 | Gain | ND |
CEP76 | - | - | - | - | 3 | Gain | ND |
CEP85 | p.T746I | Missense | SNP | 0.556 | 2 | - | ND |
CETN1 | - | - | - | - | 3 | Gain | ND |
CFAP299 | - | - | - | - | 1 | Loss | ND |
CFAP43 | - | - | - | - | 3 | Gain | ND |
CFAP45 | p.R403H | Missense | SNP | 0.467 | 2 | - | ND |
CFAP46 | - | - | - | - | 3 | Gain | ND |
CFAP53 | p.F148L | Missense | SNP | 0.486 | 3 | Gain | ND |
CFAP58 | - | - | - | - | 3 | Gain | ND |
CFAP70 | - | - | - | - | 3 | Gain | ND |
CFTR | p.G1047D | Missense | SNP | 0.169 | 2 | - | ND |
CH25H | - | - | - | - | 3 | Gain | ND |
CH507-42P11.8 | p.R587Q | Missense | SNP | 0.340 | ND | ND | ND |
CHAT | - | - | - | - | 3 | Gain | ND |
CHCHD1 | - | - | - | - | 3 | Gain | ND |
CHD7 | p.T1133M | Missense | SNP | 0.577 | 2 | - | ND |
CHIA | p.Q62* | Nonsense | SNP | 0.461 | 2 | - | ND |
CHMP1B | - | - | - | - | 3 | Gain | ND |
CHMP2A | p.C173G | Missense | SNP | 0.394 | 2 | - | ND |
CHRM3 | p.A495V | Missense | SNP | 0.319 | 2 | - | ND |
CHRNA6 | p.R363S p.Y220C | Missense Missense | SNP SNP | 0.234 0.450 | 2 | - | ND |
CHRND | p.R244H | Missense | SNP | 0.476 | 2 | - | ND |
CHST15 | - | - | - | - | 3 | Gain | ND |
CHST3 | - | - | - | - | 3 | Gain | ND |
CHST5 | p.A150V | Missense | SNP | 0.475 | 2 | - | ND |
CHST8 | p.R179H | Missense | SNP | 0.303 | 2 | - | ND |
CHST9 | - | - | - | - | 3 | Gain | ND |
CHSY3 | p.T772Dfs*18 | Frame_Shift_Ins | INS | 0.122 | 2 | - | ND |
CHUK | - | - | - | - | 3 | Gain | ND |
CIDEA | - | - | - | - | 3 | Gain | ND |
CILP2 | p.R336* | Nonsense | SNP | 0.463 | 2 | - | ND |
CISD1 | - | - | - | - | 3 | Gain | ND |
CLCN4 | p.A160V | Missense | SNP | 0.211 | ND | ND | ND |
CLDN6 | p.A102T | Missense | SNP | 0.487 | 2 | - | ND |
CLHC1 | p.G101C | Missense | SNP | 0.204 | 2 | - | ND |
CLINT1 | p.Y293H | Missense | SNP | 0.245 | 2 | - | ND |
CLOCK | p.L123* | Frame_Shift_Del | DEL | 0.345 | 2 | - | ND |
CLP1 | p.R302H | Missense | SNP | 0.580 | 2 | - | ND |
CLRN3 | - | - | - | - | 3 | Gain | ND |
CLSTN3 | p.A640T | Missense | SNP | 0.185 | 2 | - | ND |
CLUL1 | - | - | - | - | 3 | Gain | ND |
CNDP1 | - | - | - | - | 3 | Gain | ND |
CNDP2 | - | - | - | - | 3 | Gain | ND |
CNGA4 | p.G96D | Missense | SNP | 0.178 | 2 | - | ND |
CNNM1 | - | - | - | - | 3 | Gain | ND |
CNNM2 | - | - | - | - | 3 | Gain | ND |
CNOT1 | p.R1929* | Nonsense | SNP | 0.477 | 2 | - | ND |
CNOT10 | p.X754_splice | Splice_Site | SNP | 0.490 | 2 | - | ND |
CNOT6L | - | - | - | - | 1 | Loss | ND |
COG3 | p.V465I | Missense | SNP | 0.552 | 2 | - | ND |
COL11A1 | p.P546Lfs*87 p.V1658I | Frame_Shift_Del Missense | DEL SNP | 0.188 0.430 | 2 | - | ND |
COL13A1 | - | - | - | - | 3 | Gain | ND |
COL14A1 | p.R846H | Missense | SNP | 0.279 | 2 | - | ND |
COL17A1 | p.R177Q | Missense | SNP | 0.273 | 3 | Gain | ND |
COL18A1 | p.R67Gfs*49 p.P772Qfs*16 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.238 0.481 | 2 | - | ND |
COL1A2 | p.P701S | Missense | SNP | 0.200 | 2 | - | ND |
COL21A1 | p.G632Rfs*24 | Frame_Shift_Ins | INS | 0.315 | 2 | - | ND |
COL22A1 | p.P727L | Missense | SNP | 0.576 | 2 | - | ND |
COL3A1 | p.K275Rfs*9 | Frame_Shift_Del | DEL | 0.370 | 2 | - | ND |
COL6A2 | p.R734C | Missense | SNP | 0.433 | 2 | - | ND |
COL6A3 | p.V1771Sfs*8 | Frame_Shift_Del | DEL | 0.192 | 2 | - | ND |
COL6A6 | p.E1487G | Missense | SNP | 0.344 | 2 | - | ND |
COL8A2 | p.P94Lfs*143 | Frame_Shift_Del | DEL | 0.373 | 2 | - | ND |
COLEC12 | - | - | - | - | 3 | Gain | ND |
COMMD3 | - | - | - | - | 3 | Gain | ND |
COMMD3-BMI1 | - | - | - | - | 3 | Gain | ND |
COMP | p.P416L | Missense | SNP | 0.378 | 2 | - | ND |
COMTD1 | - | - | - | - | 3 | Gain | ND |
COPS4 | - | - | - | - | 1 | Loss | ND |
COPS8 | p.A117T | Missense | SNP | 0.302 | 2 | - | ND |
COQ2 | - | - | - | - | 1 | Loss | ND |
COQ6 | p.P373L | Missense | SNP | 0.547 | 2 | - | ND |
CORO7 | p.S433I | Missense | SNP | 0.500 | 2 | - | ND |
COX15 | - | - | - | - | 3 | Gain | ND |
CPA6 | p.L310I | Missense | SNP | 0.287 | 2 | - | ND |
CPAMD8 | p.V1068Wfs*111 | Frame_Shift_Del | DEL | 0.436 | 2 | - | ND |
CPEB3 | p.P63Rfs*19 | Frame_Shift_Del | DEL | 0.087 | 3 | Gain | ND |
CPLX4 | - | - | - | - | 3 | Gain | ND |
CPM | - | - | - | - | 3 | Gain | ND |
CPN1 | - | - | - | - | 3 | Gain | ND |
CPNE8 | p.V396Sfs*9 | Frame_Shift_Del | DEL | 0.460 | 2 | - | ND |
CPS1 | p.K133N | Missense | SNP | 0.493 | 2 | - | ND |
CPSF3 | p.E31K | Missense | SNP | 0.607 | 2 | - | ND |
CPSF4 | p.R238W | Missense | SNP | 0.504 | 2 | - | ND |
CPSF6 | p.V156Cfs*6 | Frame_Shift_Ins | INS | 0.316 | 2 | - | ND |
CPXM2 | - | - | - | - | 3 | Gain | ND |
CRAMP1 | p.R344H | Missense | SNP | 0.258 | 2 | - | ND |
CREBBP | p.S1680del p.G101V | In_Frame_Del Missense | DEL SNP | 0.339 0.243 | 2 | - | ND |
CREM | - | - | - | - | 3 | Gain | ND |
CRTAC1 | - | - | - | - | 3 | Gain | ND |
CRY2 | p.R362H | Missense | SNP | 0.490 | 2 | - | ND |
CSGALNACT2 | - | - | - | - | 3 | Gain | ND |
CSNK1E | p.T235M | Missense | SNP | 0.532 | 2 | - | ND |
CSPG5 | p.R365W | Missense | SNP | 0.238 | 2 | - | ND |
CSRNP1 | p.G476D | Missense | SNP | 0.600 | 2 | - | ND |
CSRP3 | p.R100H | Missense | SNP | 0.173 | 2 | - | ND |
CST2 | p.R46H | Missense | SNP | 0.564 | 2 | - | ND |
CSTF2T | - | - | - | - | 3 | Gain | ND |
CSTF3 | p.M205* | Frame_Shift_Del | DEL | 0.109 | 2 | - | ND |
CTAGE1 | - | - | - | - | 3 | Gain | ND |
CTBP2 | p.R759Q p.A602T | Missense Missense | SNP SNP | 0.101 0.379 | 3 | Gain | ND |
CTDP1 | - | - | - | - | 3 | Gain | ND |
CTIF | - | - | - | - | 3 | Gain | ND |
CTNNA3 | - | - | - | - | 3 | Gain | ND |
CTNND1 | p.R274H | Missense | SNP | 0.192 | 2 | - | ND |
CTNND2 | p.P524L | Missense | SNP | 0.481 | 2 | - | ND |
CTSF | p.V474M | Missense | SNP | 0.609 | 2 | - | ND |
CUBN | p.R3117H | Missense | SNP | 0.144 | 3 | Gain | ND |
CUEDC2 | - | - | - | - | 3 | Gain | ND |
CUL2 | - | - | - | - | 3 | Gain | ND |
CUL3 | p.R128H | Missense | SNP | 0.492 | 2 | - | ND |
CUTC | - | - | - | - | 3 | Gain | ND |
CUZD1 | - | - | - | - | 3 | Gain | ND |
CWC27 | p.V335* | Frame_Shift_Del | DEL | 0.516 | 2 | - | ND |
CWF19L1 | - | - | - | - | 3 | Gain | ND |
CXCL1 | - | - | - | - | 1 | Loss | ND |
CXCL10 | - | - | - | - | 1 | Loss | ND |
CXCL11 | - | - | - | - | 1 | Loss | ND |
CXCL12 | - | - | - | - | 3 | Gain | ND |
CXCL13 | - | - | - | - | 1 | Loss | ND |
CXCL2 | - | - | - | - | 1 | Loss | ND |
CXCL3 | - | - | - | - | 1 | Loss | ND |
CXCL5 | - | - | - | - | 1 | Loss | ND |
CXCL9 | - | - | - | - | 1 | Loss | ND |
CXorf56 | p.A62V | Missense | SNP | 0.495 | ND | ND | ND |
CXXC1 | - | - | - | - | 3 | Gain | ND |
CYB5A | - | - | - | - | 3 | Gain | ND |
CYP17A1 | - | - | - | - | 3 | Gain | ND |
CYP26A1 | - | - | - | - | 3 | Gain | ND |
CYP26C1 | - | - | - | - | 3 | Gain | ND |
CYP2C18 | - | - | - | - | 3 | Gain | ND |
CYP2C19 | - | - | - | - | 3 | Gain | ND |
CYP2C8 | - | - | - | - | 3 | Gain | ND |
CYP2C9 | - | - | - | - | 3 | Gain | ND |
CYP2E1 | - | - | - | - | 3 | Gain | ND |
CYP4F8 | p.L385P | Missense | SNP | 0.162 | 2 | - | ND |
CYP7B1 | p.N131Ifs*4 | Frame_Shift_Del | DEL | 0.152 | 2 | - | ND |
DBF4 | p.L409Afs*14 | Frame_Shift_Ins | INS | 0.301 | 2 | - | ND |
DCC | - | - | - | - | 3 | Gain | ND |
DCHS1 | p.R2892Q p.G2097D | Missense Missense | SNP SNP | 0.500 0.151 | 2 | - | ND |
DCHS2 | p.S968R | Missense | SNP | 0.478 | 2 | - | ND |
DCLRE1A | - | - | - | - | 3 | Gain | ND |
DCLRE1C | - | - | - | - | 3 | Gain | ND |
DCN | p.T151Nfs*9 | Frame_Shift_Ins | INS | 0.328 | 2 | - | ND |
DDAH2 | p.V201M | Missense | SNP | 0.185 | 2 | - | ND |
DDIT4 | - | - | - | - | 3 | Gain | ND |
DDX17 | p.R439H | Missense | SNP | 0.397 | 2 | - | ND |
DDX21 | - | - | - | - | 3 | Gain | ND |
DDX50 | - | - | - | - | 3 | Gain | ND |
DDX52 | p.E518A | Missense | SNP | 0.352 | 2 | - | ND |
DDX59 | p.N577Ifs*6 | Frame_Shift_Del | DEL | 0.521 | 2 | - | ND |
DDX60L | p.Y1625H | Missense | SNP | 0.500 | 2 | - | ND |
DEPP1 | - | - | - | - | 3 | Gain | ND |
DET1 | p.R218H | Missense | SNP | 0.257 | 2 | - | ND |
DGKH | p.R273H | Missense | SNP | 0.533 | 2 | - | ND |
DGKI | p.R791H | Missense | SNP | 0.431 | 2 | - | ND |
DHRS12 | p.H120Y | Missense | SNP | 0.432 | 2 | - | ND |
DHRS7C | p.R264H | Missense | SNP | 0.288 | 2 | - | ND |
DHTKD1 | - | - | - | - | 3 | Gain | ND |
DHX32 | - | - | - | - | 3 | Gain | ND |
DIP2C | - | - | - | - | 3 | Gain | ND |
DKK1 | - | - | - | - | 3 | Gain | ND |
DLG5 | - | - | - | - | 3 | Gain | ND |
DLGAP1 | - | - | - | - | 3 | Gain | ND |
DLK1 | p.P160Lfs*50 | Frame_Shift_Del | DEL | 0.261 | 2 | - | ND |
DMBT1 | - | - | - | - | 3 | Gain | ND |
DMD | p.N3378Tfs*24 | Frame_Shift_Del | DEL | 0.425 | ND | ND | ND |
DMP1 | - | - | - | - | 1 | Loss | ND |
DMRT2 | p.R212H | Missense | SNP | 0.273 | 2 | - | ND |
DNA2 | - | - | - | - | 3 | Gain | ND |
DNAH5 | p.A244T | Missense | SNP | 0.488 | 2 | - | ND |
DNAJB12 | - | - | - | - | 3 | Gain | ND |
DNAJC1 | - | - | - | - | 3 | Gain | ND |
DNAJC11 | p.R273* | Nonsense | SNP | 0.539 | 2 | - | ND |
DNAJC12 | - | - | - | - | 3 | Gain | ND |
DNAJC9 | - | - | - | - | 3 | Gain | ND |
DNMBP | - | - | - | - | 3 | Gain | ND |
DNMT3A | p.T835M | Missense | SNP | 0.147 | 2 | - | ND |
DNMT3B | p.R538H | Missense | SNP | 0.538 | 2 | - | ND |
DNTT | - | - | - | - | 3 | Gain | ND |
DOC2A | p.K312del | In_Frame_Del | DEL | 0.546 | 2 | - | ND |
DOCK1 | - | - | - | - | 3 | Gain | ND |
DOCK11 | p.Y2012* | Nonsense | SNP | 0.541 | ND | ND | ND |
DOCK7 | p.P526L | Missense | SNP | 0.447 | 2 | - | ND |
DOCK8 | p.P706S | Missense | SNP | 0.149 | 2 | - | ND |
DOK1 | p.V175M | Missense | SNP | 0.453 | 2 | - | ND |
DOK6 | - | - | - | - | 3 | Gain | ND |
DONSON | p.R27Q | Missense | SNP | 0.435 | 2 | - | ND |
DPCD | - | - | - | - | 3 | Gain | ND |
DPRX | p.V95Sfs*7 | Frame_Shift_Del | DEL | 0.472 | 2 | - | ND |
DPYSL2 | p.F20Lfs*104 p.R481H | Frame_Shift_Del Missense | DEL SNP | 0.536 0.604 | 2 | - | ND |
DPYSL4 | - | - | - | - | 3 | Gain | ND |
DRGX | - | - | - | - | 3 | Gain | ND |
DRICH1 | p.E198D | Missense | SNP | 0.163 | 2 | - | ND |
DROSHA | p.R254H | Missense | SNP | 0.521 | 2 | - | ND |
DSC1 | p.A574T | Missense | SNP | 0.133 | 3 | Gain | ND |
DSC2 | - | - | - | - | 3 | Gain | ND |
DSC3 | - | - | - | - | 3 | Gain | ND |
DSEL | - | - | - | - | 3 | Gain | ND |
DSG1 | - | - | - | - | 3 | Gain | ND |
DSG2 | - | - | - | - | 3 | Gain | ND |
DSG3 | - | - | - | - | 3 | Gain | ND |
DSG4 | - | - | - | - | 3 | Gain | ND |
DSP | p.R866C p.R1915C | Missense Missense | SNP SNP | 0.494 0.441 | 2 | - | ND |
DSPP | - | - | - | - | 1 | Loss | ND |
DSTYK | p.L732del | In_Frame_Del | DEL | 0.455 | 2 | - | ND |
DTNA | p.A498Qfs*40 | Frame_Shift_Del | DEL | 0.542 | 3 | Gain | ND |
DTX4 | p.G510Afs*35 | Frame_Shift_Del | DEL | 0.457 | 2 | - | ND |
DUPD1 | - | - | - | - | 3 | Gain | ND |
DUS3L | p.V440I | Missense | SNP | 0.432 | 2 | - | ND |
DUSP13 | - | - | - | - | 3 | Gain | ND |
DUSP5 | - | - | - | - | 3 | Gain | ND |
DYDC1 | - | - | - | - | 3 | Gain | ND |
DYDC2 | - | - | - | - | 3 | Gain | ND |
DYM | - | - | - | - | 3 | Gain | ND |
DYNAP | - | - | - | - | 3 | Gain | ND |
DYNC1H1 | p.R2831H | Missense | SNP | 0.419 | 2 | - | ND |
DYRK1A | p.X317_splice | Splice_Site | DEL | 0.319 | 2 | - | ND |
E2F7 | p.K59Nfs*29 | Frame_Shift_Del | DEL | 0.262 | 2 | - | ND |
EBF3 | - | - | - | - | 3 | Gain | ND |
EBF4 | p.A553T | Missense | SNP | 0.221 | 2 | - | ND |
EBLN1 | - | - | - | - | 3 | Gain | ND |
ECD | - | - | - | - | 3 | Gain | ND |
ECHDC3 | - | - | - | - | 3 | Gain | ND |
ECHS1 | - | - | - | - | 3 | Gain | ND |
ECI1 | p.T268M | Missense | SNP | 0.520 | 2 | - | ND |
EDEM3 | p.F658Lfs*4 | Frame_Shift_Del | DEL | 0.319 | 2 | - | ND |
EDRF1 | p.N302Mfs*47 | Frame_Shift_Del | DEL | 0.652 | 3 | Gain | ND |
EEF1AKMT2 | - | - | - | - | 3 | Gain | ND |
EFHC2 | p.E202D | Missense | SNP | 0.442 | ND | ND | ND |
EFNB3 | p.Q331Rfs*39 | Frame_Shift_Del | DEL | 0.417 | 2 | - | ND |
EGR2 | - | - | - | - | 3 | Gain | ND |
EHBP1L1 | p.R50H | Missense | SNP | 0.602 | 2 | - | ND |
EIF3A | - | - | - | - | 3 | Gain | ND |
EIF4EBP2 | - | - | - | - | 3 | Gain | ND |
EIF4G3 | p.V563Sfs*12 | Frame_Shift_Ins | INS | 0.183 | 2 | - | ND |
EIF5AL1 | - | - | - | - | 3 | Gain | ND |
ELAC1 | - | - | - | - | 3 | Gain | ND |
ELAVL2 | p.A333V | Missense | SNP | 0.219 | 2 | - | ND |
ELF4 | p.Q341Rfs*30 | Frame_Shift_Del | DEL | 0.457 | ND | ND | ND |
ELMO1 | p.G674R | Missense | SNP | 0.413 | 2 | - | ND |
ELOA2 | - | - | - | - | 3 | Gain | ND |
ELOA3 | - | - | - | - | 3 | Gain | ND |
ELOA3B | - | - | - | - | 3 | Gain | ND |
ELOA3D | - | - | - | - | 3 | Gain | ND |
ELOVL3 | - | - | - | - | 3 | Gain | ND |
ELOVL7 | p.R115C | Missense | SNP | 0.298 | 2 | - | ND |
ELP2 | - | - | - | - | 3 | Gain | ND |
EMILIN2 | - | - | - | - | 3 | Gain | ND |
EML6 | p.A1888T | Missense | SNP | 0.451 | 2 | - | ND |
EMX2 | - | - | - | - | 3 | Gain | ND |
ENKUR | - | - | - | - | 3 | Gain | ND |
ENO4 | p.Y584Tfs*31 p.R551C | Frame_Shift_Del Missense | DEL SNP | 0.099 0.285 | 3 | Gain | ND |
ENOPH1 | - | - | - | - | 1 | Loss | ND |
ENOSF1 | - | - | - | - | 3 | Gain | ND |
ENPP6 | p.R35H | Missense | SNP | 0.453 | 2 | - | ND |
ENTPD1 | - | - | - | - | 3 | Gain | ND |
ENTPD6 | p.G444S | Missense | SNP | 0.473 | 2 | - | ND |
ENTPD7 | - | - | - | - | 3 | Gain | ND |
EPB41L3 | - | - | - | - | 3 | Gain | ND |
EPC1 | - | - | - | - | 3 | Gain | ND |
EPG5 | - | - | - | - | 3 | Gain | ND |
EPGN | - | - | - | - | 1 | Loss | ND |
EPHA2 | p.T526M | Missense | SNP | 0.444 | 2 | - | ND |
EPHB1 | p.R351W | Missense | SNP | 0.220 | 2 | - | ND |
EPPIN | p.Y107C | Missense | SNP | 0.426 | 2 | - | ND |
ERBIN | p.D727Ifs*9 p.K988Rfs*24 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.589 0.521 | 2 | - | ND |
ERCC6 | - | - | - | - | 3 | Gain | ND |
ERCC8 | p.A7T | Missense | SNP | 0.568 | 2 | - | ND |
EREG | - | - | - | - | 1 | Loss | ND |
ERICH3 | p.N557I | Missense | SNP | 0.458 | 2 | - | ND |
ERLIN1 | - | - | - | - | 3 | Gain | ND |
ESCO1 | - | - | - | - | 3 | Gain | ND |
ESPL1 | p.A35V | Missense | SNP | 0.465 | 2 | - | ND |
ETV1 | p.T139Hfs*24 | Frame_Shift_Ins | INS | 0.225 | 2 | - | ND |
EVC2 | p.T699M | Missense | SNP | 0.486 | 2 | - | ND |
EVI2A | p.A150V | Missense | SNP | 0.507 | 2 | - | ND |
EXOC2 | p.G34D | Missense | SNP | 0.268 | 2 | - | ND |
EXOC6 | - | - | - | - | 3 | Gain | ND |
EXOSC1 | - | - | - | - | 3 | Gain | ND |
EXTL1 | p.R31H | Missense | SNP | 0.617 | 2 | - | ND |
EZH1 | p.A379V | Missense | SNP | 0.446 | 2 | - | ND |
F13A1 | p.P565L | Missense | SNP | 0.448 | 2 | - | ND |
FAAP100 | p.L21Pfs*12 | Frame_Shift_Ins | INS | 0.274 | 2 | - | ND |
FAM107B | - | - | - | - | 3 | Gain | ND |
FAM111B | p.R94H | Missense | SNP | 0.459 | 2 | - | ND |
FAM118B | p.L217F | Missense | SNP | 0.527 | 2 | - | ND |
FAM129A | p.X392_splice | Splice_Site | SNP | 0.479 | 2 | - | ND |
FAM135A | p.S1485L | Missense | SNP | 0.435 | 2 | - | ND |
FAM135B | p.K1101N | Missense | SNP | 0.180 | 2 | - | ND |
FAM13A | - | - | - | - | 1 | Loss | ND |
FAM13C | - | - | - | - | 3 | Gain | ND |
FAM149B1 | - | - | - | - | 3 | Gain | ND |
FAM160B1 | - | - | - | - | 3 | Gain | ND |
FAM166A | p.L210R | Missense | SNP | 0.414 | 2 | - | ND |
FAM170B | - | - | - | - | 3 | Gain | ND |
FAM171A1 | - | - | - | - | 3 | Gain | ND |
FAM175A | p.N303Ifs*17 | Frame_Shift_Del | DEL | 0.552 | ND | ND | ND |
FAM186B | p.E667K | Missense | SNP | 0.600 | 2 | - | ND |
FAM193A | p.V231Sfs*81 | Frame_Shift_Del | DEL | 0.402 | 2 | - | ND |
FAM204A | - | - | - | - | 3 | Gain | ND |
FAM208B | - | - | - | - | 3 | Gain | ND |
FAM210A | - | - | - | - | 3 | Gain | ND |
FAM241B | - | - | - | - | 3 | Gain | ND |
FAM24A | - | - | - | - | 3 | Gain | ND |
FAM24B | - | - | - | - | 3 | Gain | ND |
FAM45A | - | - | - | - | 3 | Gain | ND |
FAM46B | p.R288W | Missense | SNP | 0.476 | ND | ND | ND |
FAM47B | p.A360T | Missense | SNP | 0.478 | ND | ND | ND |
FAM47E | - | - | - | - | 1 | Loss | ND |
FAM47E-STBD1 | - | - | - | - | 1 | Loss | ND |
FAM53B | - | - | - | - | 3 | Gain | ND |
FAM69C | - | - | - | - | 3 | Gain | ND |
FAM71E2 | p.P40L | Missense | SNP | 0.646 | 2 | - | ND |
FAM81B | p.G330C | Missense | SNP | 0.248 | 2 | - | ND |
FAM98A | p.K174Nfs*2 | Frame_Shift_Del | DEL | 0.398 | 2 | - | ND |
FANK1 | - | - | - | - | 3 | Gain | ND |
FAS | - | - | - | - | 3 | Gain | ND |
FAT1 | p.D2158Rfs*20 | Frame_Shift_Ins | INS | 0.306 | 2 | - | ND |
FAT3 | p.R1186H | Missense | SNP | 0.211 | 2 | - | ND |
FAT4 | p.R4857S | Missense | SNP | 0.273 | 2 | - | ND |
FBH1 | - | - | - | - | 3 | Gain | ND |
FBLN2 | p.R1180C | Missense | SNP | 0.583 | 2 | - | ND |
FBN2 | p.R1068W | Missense | SNP | 0.390 | 2 | - | ND |
FBN3 | p.G1577Vfs*72 | Frame_Shift_Del | DEL | 0.215 | 2 | - | ND |
FBXL15 | - | - | - | - | 3 | Gain | ND |
FBXL19 | p.L381Yfs*86 | Frame_Shift_Del | DEL | 0.500 | 2 | - | ND |
FBXL3 | p.A194T | Missense | SNP | 0.229 | 2 | - | ND |
FBXO15 | - | - | - | - | 3 | Gain | ND |
FBXW4 | - | - | - | - | 3 | Gain | ND |
FECH | - | - | - | - | 3 | Gain | ND |
FER1L6 | p.I975T | Missense | SNP | 0.351 | 2 | - | ND |
FFAR4 | - | - | - | - | 3 | Gain | ND |
FGA | p.L753F | Missense | SNP | 0.259 | 2 | - | ND |
FGD4 | p.R431H | Missense | SNP | 0.471 | 2 | - | ND |
FGF5 | p.G148Efs*45 | Frame_Shift_Del | DEL | 0.644 | 1 | Loss | ND |
FGF6 | p.V127M | Missense | SNP | 0.524 | 2 | - | ND |
FGF8 | - | - | - | - | 3 | Gain | ND |
FGFBP3 | - | - | - | - | 3 | Gain | ND |
FGFR2 | p.R426Q | Missense | SNP | 0.115 | 3 | Gain | ND |
FHAD1 | p.S26T | Missense | SNP | 0.493 | 2 | - | ND |
FHOD3 | - | - | - | - | 3 | Gain | ND |
FLG | - | - | - | - | 3 | Gain | ND |
FLG2 | - | - | - | - | 3 | Gain | ND |
FLI1 | p.M348L | Missense | SNP | 0.478 | 2 | - | ND |
FLII | p.A1253T | Missense | SNP | 0.147 | 2 | - | ND |
FLNA | p.A1188V | Missense | SNP | 0.473 | ND | ND | ND |
FLNC | p.G746C | Missense | SNP | 0.223 | 2 | - | ND |
FLOT2 | p.A400V | Missense | SNP | 0.189 | 2 | - | ND |
FLT4 | p.P619Lfs*20 p.P30L | Frame_Shift_Del Missense | DEL SNP | 0.464 0.548 | 2 | - | ND |
FO681492.1 | - | - | - | - | 3 | Gain | ND |
FOXI1 | p.R143C | Missense | SNP | 0.482 | 2 | - | ND |
FOXI2 | p.A77T | Missense | SNP | 0.303 | 3 | Gain | ND |
FOXP1 | p.L414* p.R36W | Frame_Shift_Del Missense | DEL SNP | 0.578 0.181 | 2 | - | ND |
FPGS | p.E407K | Missense | SNP | 0.143 | 2 | - | ND |
FRA10AC1 | p.R232Efs*96 | Frame_Shift_Del | DEL | 0.191 | 3 | Gain | ND |
FRAS1 | - | - | - | - | 1 | Loss | ND |
FRAT1 | - | - | - | - | 3 | Gain | ND |
FRAT2 | - | - | - | - | 3 | Gain | ND |
FREM1 | p.R507H | Missense | SNP | 0.480 | 2 | - | ND |
FRG2B | - | - | - | - | 3 | Gain | ND |
FRMD4A | - | - | - | - | 3 | Gain | ND |
FRMPD2 | - | - | - | - | 3 | Gain | ND |
FSCB | p.E759K | Missense | SNP | 0.284 | 2 | - | ND |
FSCN3 | p.R285C | Missense | SNP | 0.227 | 2 | - | ND |
FSIP2 | p.V5823Yfs*24 | Frame_Shift_Del | DEL | 0.394 | 2 | - | ND |
FUOM | - | - | - | - | 3 | Gain | ND |
FUT11 | - | - | - | - | 3 | Gain | ND |
FUT5 | p.R14C | Missense | SNP | 0.439 | 2 | - | ND |
FXYD4 | - | - | - | - | 3 | Gain | ND |
FZD5 | p.L241M | Missense | SNP | 0.210 | 2 | - | ND |
FZD8 | - | - | - | - | 3 | Gain | ND |
G3BP2 | - | - | - | - | 1 | Loss | ND |
G6PC2 | p.R79Q | Missense | SNP | 0.508 | 2 | - | ND |
GABRB1 | p.A363T | Missense | SNP | 0.260 | 2 | - | ND |
GABRB3 | p.L170Pfs*11 | Frame_Shift_Ins | INS | 0.297 | 2 | - | ND |
GAD2 | - | - | - | - | 3 | Gain | ND |
GALNT1 | - | - | - | - | 3 | Gain | ND |
GALNT12 | p.R401S | Missense | SNP | 0.315 | 2 | - | ND |
GALR1 | - | - | - | - | 3 | Gain | ND |
GANAB | p.E567K | Missense | SNP | 0.194 | 2 | - | ND |
GAPT | p.P101L | Missense | SNP | 0.527 | 2 | - | ND |
GAREM1 | - | - | - | - | 3 | Gain | ND |
GATA3 | - | - | - | - | 3 | Gain | ND |
GATA6 | - | - | - | - | 3 | Gain | ND |
GATAD2A | p.A580T | Missense | SNP | 0.276 | 2 | - | ND |
GBF1 | - | - | - | - | 3 | Gain | ND |
GBGT1 | p.R243H | Missense | SNP | 0.538 | 2 | - | ND |
GDAP1L1 | p.E199K | Missense | SNP | 0.427 | 2 | - | ND |
GDF10 | - | - | - | - | 3 | Gain | ND |
GDF2 | - | - | - | - | 3 | Gain | ND |
GDF5 | p.R325C | Missense | SNP | 0.478 | 2 | - | ND |
GDI2 | - | - | - | - | 3 | Gain | ND |
GEM | p.R56Q | Missense | SNP | 0.415 | 2 | - | ND |
GEMIN2 | p.K146Nfs*24 | Frame_Shift_Del | DEL | 0.510 | 2 | - | ND |
GFRA1 | - | - | - | - | 3 | Gain | ND |
GGA1 | p.P632Hfs*59 | Frame_Shift_Del | DEL | 0.210 | 2 | - | ND |
GGN | p.A115V | Missense | SNP | 0.321 | 2 | - | ND |
GHDC | p.E205K | Missense | SNP | 0.212 | 2 | - | ND |
GHITM | - | - | - | - | 3 | Gain | ND |
GIMAP2 | p.D162N | Missense | SNP | 0.284 | 2 | - | ND |
GIMAP8 | p.R81H | Missense | SNP | 0.390 | 2 | - | ND |
GIPC1 | p.P50Lfs*48 | Frame_Shift_Del | DEL | 0.375 | 2 | - | ND |
GJD4 | - | - | - | - | 3 | Gain | ND |
GK2 | - | - | - | - | 1 | Loss | ND |
GLOD4 | p.R50Q | Missense | SNP | 0.553 | 2 | - | ND |
GLRX3 | - | - | - | - | 3 | Gain | ND |
GLTSCR1 | p.E1438K | Missense | SNP | 0.654 | ND | ND | ND |
GLUD1 | - | - | - | - | 3 | Gain | ND |
GLYCTK | p.A481T | Missense | SNP | 0.389 | 2 | - | ND |
GLYR1 | p.R381Afs*15 | Frame_Shift_Ins | INS | 0.306 | 2 | - | ND |
GM2A | p.R169H | Missense | SNP | 0.400 | 2 | - | ND |
GMEB1 | p.A499V | Missense | SNP | 0.497 | 2 | - | ND |
GNAL | - | - | - | - | 3 | Gain | ND |
GNB1L | p.V108M | Missense | SNP | 0.517 | 2 | - | ND |
GNMT | p.D272N | Missense | SNP | 0.500 | 2 | - | ND |
GOLGA4 | p.E727D | Missense | SNP | 0.582 | 2 | - | ND |
GOLGA7B | - | - | - | - | 3 | Gain | ND |
GOLPH3 | p.T148M | Missense | SNP | 0.413 | 2 | - | ND |
GOT1 | - | - | - | - | 3 | Gain | ND |
GPAA1 | p.X389_splice | Splice_Site | SNP | 0.593 | 2 | - | ND |
GPAM | - | - | - | - | 3 | Gain | ND |
GPAT3 | - | - | - | - | 1 | Loss | ND |
GPR158 | - | - | - | - | 3 | Gain | ND |
GPR26 | - | - | - | - | 3 | Gain | ND |
GPR34 | p.S62Cfs*23 | Frame_Shift_Del | DEL | 0.365 | ND | ND | ND |
GPR85 | p.A311V | Missense | SNP | 0.525 | 2 | - | ND |
GPRASP2 | p.T88M | Missense | SNP | 0.476 | ND | ND | ND |
GPRIN2 | - | - | - | - | 3 | Gain | ND |
GPRIN3 | p.I138L | Missense | SNP | 0.259 | 1 | Loss | ND |
GRAMD1A | p.V689M | Missense | SNP | 0.294 | 2 | - | ND |
GRAMD1C | p.E204G | Missense | SNP | 0.162 | 2 | - | ND |
GRB10 | p.A166T | Missense | SNP | 0.500 | 2 | - | ND |
GREB1 | p.R1530* | Nonsense | SNP | 0.257 | 2 | - | ND |
GREB1L | - | - | - | - | 3 | Gain | ND |
GRID1 | p.A243V | Missense | SNP | 0.134 | 3 | Gain | ND |
GRID2 | - | - | - | - | 1 | Loss | ND |
GRK5 | - | - | - | - | 3 | Gain | ND |
GRM1 | p.A32V | Missense | SNP | 0.306 | 2 | - | ND |
GRP | - | - | - | - | 3 | Gain | ND |
GSE1 | p.E495del | In_Frame_Del | DEL | 0.126 | 2 | - | ND |
GSK3A | p.V133M | Missense | SNP | 0.547 | 2 | - | ND |
GSTO1 | - | - | - | - | 3 | Gain | ND |
GSTO2 | - | - | - | - | 3 | Gain | ND |
GTF3C3 | p.T361Lfs*26 | Frame_Shift_Del | DEL | 0.305 | 2 | - | ND |
GTPBP4 | - | - | - | - | 3 | Gain | ND |
GUCY1B3 | p.L472I | Missense | SNP | 0.478 | ND | ND | ND |
GUCY2D | p.G557R | Missense | SNP | 0.245 | 2 | - | ND |
GZF1 | p.R566H | Missense | SNP | 0.290 | 2 | - | ND |
H2AFY2 | - | - | - | - | 3 | Gain | ND |
HABP2 | - | - | - | - | 3 | Gain | ND |
HACD1 | - | - | - | - | 3 | Gain | ND |
HADHB | p.K474N | Missense | SNP | 0.484 | 2 | - | ND |
HAUS1 | - | - | - | - | 3 | Gain | ND |
HBE1 | p.A139V | Missense | SNP | 0.571 | 2 | - | ND |
HCFC1 | p.R524W | Missense | SNP | 0.187 | ND | ND | ND |
HCN3 | p.R502H | Missense | SNP | 0.498 | 2 | - | ND |
HDAC5 | p.I933Lfs*14 | Frame_Shift_Del | DEL | 0.500 | 2 | - | ND |
HDGF | p.S218Lfs*? | Frame_Shift_Del | DEL | 0.343 | 2 | - | ND |
HDHD2 | - | - | - | - | 3 | Gain | ND |
HDHD3 | p.Q92H | Missense | SNP | 0.539 | 2 | - | ND |
HDLBP | p.R163H | Missense | SNP | 0.206 | 2 | - | ND |
HECTD1 | p.I2041Lfs*27 | Frame_Shift_Del | DEL | 0.296 | 2 | - | ND |
HECTD2 | p.X170_splice | Splice_Site | SNP | 0.111 | 3 | Gain | ND |
HECTD4 | p.P1869T | Missense | SNP | 0.235 | 2 | - | ND |
HELLS | - | - | - | - | 3 | Gain | ND |
HELQ | - | - | - | - | 1 | Loss | ND |
HELZ | p.A149T | Missense | SNP | 0.456 | 2 | - | ND |
HERC2 | p.A335T | Missense | SNP | 0.256 | 2 | - | ND |
HERC3 | - | - | - | - | 1 | Loss | ND |
HERC4 | - | - | - | - | 3 | Gain | ND |
HERC5 | - | - | - | - | 1 | Loss | ND |
HERC6 | - | - | - | - | 1 | Loss | ND |
HEXDC | p.R502Pfs*16 | Frame_Shift_Ins | INS | 0.164 | 2 | - | ND |
HFE | p.L122M | Missense | SNP | 0.504 | 2 | - | ND |
HHEX | - | - | - | - | 3 | Gain | ND |
HIC2 | p.T549M | Missense | SNP | 0.453 | 2 | - | ND |
HIF1AN | - | - | - | - | 3 | Gain | ND |
HIST1H4C | p.T72I | Missense | SNP | 0.621 | 2 | - | ND |
HK1 | p.T605M | Missense | SNP | 0.329 | 3 | Gain | ND |
HKDC1 | - | - | - | - | 3 | Gain | ND |
HLA-F | p.A203T | Missense | SNP | 0.470 | 2 | - | ND |
HMBOX1 | p.R35H | Missense | SNP | 0.135 | 2 | - | ND |
HMSD | - | - | - | - | 3 | Gain | ND |
HMX2 | - | - | - | - | 3 | Gain | ND |
HMX3 | - | - | - | - | 3 | Gain | ND |
HNRNPD | - | - | - | - | 1 | Loss | ND |
HNRNPDL | - | - | - | - | 1 | Loss | ND |
HNRNPF | - | - | - | - | 3 | Gain | ND |
HNRNPH3 | - | - | - | - | 3 | Gain | ND |
HNRNPK | p.R268W | Missense | SNP | 0.512 | 2 | - | ND |
HOGA1 | - | - | - | - | 3 | Gain | ND |
HOXA3 | p.Q302Pfs*42 | Frame_Shift_Ins | INS | 0.127 | 2 | - | ND |
HPCA | p.R118Q | Missense | SNP | 0.402 | 2 | - | ND |
HPN | p.E343K | Missense | SNP | 0.165 | 2 | - | ND |
HPS1 | - | - | - | - | 3 | Gain | ND |
HPS6 | - | - | - | - | 3 | Gain | ND |
HPSE | p.F532Lfs*2 | Frame_Shift_Del | DEL | 0.364 | 1 | Loss | ND |
HPSE2 | - | - | - | - | 3 | Gain | ND |
HRG | p.R201L | Missense | SNP | 0.139 | 2 | - | ND |
HRH4 | - | - | - | - | 3 | Gain | ND |
HRNR | - | - | - | - | 3 | Gain | ND |
HS6ST2 | p.R94C | Missense | SNP | 0.552 | ND | ND | ND |
HSBP1L1 | - | - | - | - | 3 | Gain | ND |
HSD17B11 | - | - | - | - | 1 | Loss | ND |
HSD17B13 | - | - | - | - | 1 | Loss | ND |
HSPA12A | - | - | - | - | 3 | Gain | ND |
HSPA14 | - | - | - | - | 3 | Gain | ND |
HTR3A | p.S178L | Missense | SNP | 0.463 | 2 | - | ND |
HTR7 | - | - | - | - | 3 | Gain | ND |
HTRA1 | - | - | - | - | 3 | Gain | ND |
HTT | p.R416H | Missense | SNP | 0.585 | 2 | - | ND |
HUNK | p.E596K | Missense | SNP | 0.510 | 2 | - | ND |
IBSP | - | - | - | - | 1 | Loss | ND |
ICAM5 | p.R434H | Missense | SNP | 0.530 | 2 | - | ND |
IDE | - | - | - | - | 3 | Gain | ND |
IDH1 | p.R132H | Missense | SNP | 0.625 | 2 | - | ND |
IDI1 | - | - | - | - | 3 | Gain | ND |
IDI2 | - | - | - | - | 3 | Gain | ND |
IER3IP1 | - | - | - | - | 3 | Gain | ND |
IFIT1 | - | - | - | - | 3 | Gain | ND |
IFIT1B | - | - | - | - | 3 | Gain | ND |
IFIT2 | - | - | - | - | 3 | Gain | ND |
IFIT3 | - | - | - | - | 3 | Gain | ND |
IFIT5 | - | - | - | - | 3 | Gain | ND |
IFNL2 | p.F137L p.R152W | Missense Missense | SNP SNP | 0.085 0.548 | 2 | - | ND |
IGF2BP1 | p.G541R | Missense | SNP | 0.435 | 2 | - | ND |
IKZF5 | - | - | - | - | 3 | Gain | ND |
IL15RA | - | - | - | - | 3 | Gain | ND |
IL17RC | p.W167R | Missense | SNP | 0.524 | 2 | - | ND |
IL17RD | p.A453V | Missense | SNP | 0.420 | 2 | - | ND |
IL2RA | - | - | - | - | 3 | Gain | ND |
IL31RA | p.G534Efs*7 | Frame_Shift_Del | DEL | 0.438 | 2 | - | ND |
ILKAP | p.S202Qfs*52 | Frame_Shift_Del | DEL | 0.492 | 2 | - | ND |
IMPA2 | - | - | - | - | 3 | Gain | ND |
IMPACT | - | - | - | - | 3 | Gain | ND |
INA | - | - | - | - | 3 | Gain | ND |
INHBB | p.A153G | Missense | SNP | 0.158 | 2 | - | ND |
INO80C | - | - | - | - | 3 | Gain | ND |
INPP5A | - | - | - | - | 3 | Gain | ND |
INPP5F | p.V406I | Missense | SNP | 0.124 | 3 | Gain | ND |
INSM2 | p.H309N | Missense | SNP | 0.517 | 2 | - | ND |
INSYN2 | - | - | - | - | 3 | Gain | ND |
INTS5 | p.S1010del | In_Frame_Del | DEL | 0.547 | 2 | - | ND |
INTS6L | p.R305Q | Missense | SNP | 0.511 | ND | ND | ND |
INVS | p.N1061Kfs*20 | Frame_Shift_Ins | INS | 0.298 | 2 | - | ND |
IPMK | - | - | - | - | 3 | Gain | ND |
IRF8 | p.S34I | Missense | SNP | 0.243 | 2 | - | ND |
IRGC | p.V89I | Missense | SNP | 0.491 | 2 | - | ND |
IRS1 | p.R998Vfs*13 | Frame_Shift_Del | DEL | 0.318 | 2 | - | ND |
IRX3 | p.E236Rfs*24 | Frame_Shift_Del | DEL | 0.172 | 2 | - | ND |
ISL2 | p.G173E | Missense | SNP | 0.607 | 2 | - | ND |
ISM1 | p.A412V | Missense | SNP | 0.541 | 2 | - | ND |
ITGA11 | p.N1031S | Missense | SNP | 0.176 | 2 | - | ND |
ITGA8 | - | - | - | - | 3 | Gain | ND |
ITGAE | p.L601Wfs*82 | Frame_Shift_Del | DEL | 0.234 | 2 | - | ND |
ITGAX | p.V236M | Missense | SNP | 0.211 | 2 | - | ND |
ITGB1 | - | - | - | - | 3 | Gain | ND |
ITIH2 | - | - | - | - | 3 | Gain | ND |
ITIH5 | - | - | - | - | 3 | Gain | ND |
ITPRIP | - | - | - | - | 3 | Gain | ND |
JAK1 | p.P430Rfs*2 p.R997W p.R108Q | Frame_Shift_Del Missense Missense | DEL SNP SNP | 0.395 0.500 0.500 | 2 | - | ND |
JAKMIP3 | - | - | - | - | 3 | Gain | ND |
JCAD | - | - | - | - | 3 | Gain | ND |
JMJD1C | - | - | - | - | 3 | Gain | ND |
JPH2 | p.A595V | Missense | SNP | 0.544 | 2 | - | ND |
KANK3 | p.D792N | Missense | SNP | 0.404 | 2 | - | ND |
KAT6B | - | - | - | - | 3 | Gain | ND |
KATNA1 | p.A428V | Missense | SNP | 0.273 | 2 | - | ND |
KATNAL2 | - | - | - | - | 3 | Gain | ND |
KAZALD1 | - | - | - | - | 3 | Gain | ND |
KBTBD13 | p.T162M | Missense | SNP | 0.630 | 2 | - | ND |
KCNC1 | p.K457Rfs*20 | Frame_Shift_Del | DEL | 0.493 | 2 | - | ND |
KCNC4 | p.R413W | Missense | SNP | 0.485 | 2 | - | ND |
KCNG2 | - | - | - | - | 3 | Gain | ND |
KCNH2 | p.W497* p.R472H | Nonsense Missense | SNP SNP | 0.424 0.454 | 2 | - | ND |
KCNH5 | p.V58I | Missense | SNP | 0.400 | 2 | - | ND |
KCNIP2 | - | - | - | - | 3 | Gain | ND |
KCNJ4 | p.P433L | Missense | SNP | 0.413 | 2 | - | ND |
KCNK18 | - | - | - | - | 3 | Gain | ND |
KCNMA1 | - | - | - | - | 3 | Gain | ND |
KCTD1 | - | - | - | - | 3 | Gain | ND |
KCTD10 | p.R308Q | Missense | SNP | 0.632 | 2 | - | ND |
KCTD18 | p.S301R | Missense | SNP | 0.513 | 2 | - | ND |
KCTD8 | p.L209R | Missense | SNP | 0.344 | 2 | - | ND |
KDM2B | p.K26Rfs*81 | Frame_Shift_Del | DEL | 0.244 | 2 | - | ND |
KDM4C | p.Y1011Mfs*16 | Frame_Shift_Del | DEL | 0.480 | 2 | - | ND |
KDM5A | p.G1200Dfs*9 p.R674Q | Frame_Shift_Del Missense | DEL SNP | 0.216 0.491 | 2 | - | ND |
KDSR | - | - | - | - | 3 | Gain | ND |
KIAA0232 | p.A295T | Missense | SNP | 0.052 | 2 | - | ND |
KIAA1161 | p.R673H | Missense | SNP | 0.528 | ND | ND | ND |
KIAA1217 | p.R976Gfs*16 p.A233T p.T1868A | Frame_Shift_Del Missense Missense | DEL SNP SNP | 0.697 0.244 0.103 | 3 | Gain | ND |
KIAA1328 | - | - | - | - | 3 | Gain | ND |
KIAA1522 | p.A247T | Missense | SNP | 0.515 | 2 | - | ND |
KIAA1549 | p.L283* | Frame_Shift_Del | DEL | 0.474 | 2 | - | ND |
KIAA1614 | p.P50Qfs*15 | Frame_Shift_Del | DEL | 0.403 | 2 | - | ND |
KIAA2026 | p.K740Nfs*16 | Frame_Shift_Del | DEL | 0.130 | 2 | - | ND |
KIF11 | - | - | - | - | 3 | Gain | ND |
KIF13A | p.A364T | Missense | SNP | 0.442 | 2 | - | ND |
KIF1BP | - | - | - | - | 3 | Gain | ND |
KIF20B | - | - | - | - | 3 | Gain | ND |
KIF21B | p.V33I | Missense | SNP | 0.437 | 2 | - | ND |
KIF26B | p.M1883Wfs*19 | Frame_Shift_Del | DEL | 0.250 | 2 | - | ND |
KIF27 | p.A1067V | Missense | SNP | 0.464 | 2 | - | ND |
KIF5B | - | - | - | - | 3 | Gain | ND |
KIN | - | - | - | - | 3 | Gain | ND |
KLF6 | - | - | - | - | 3 | Gain | ND |
KLHL1 | p.G35Efs*31 | Frame_Shift_Del | DEL | 0.411 | 2 | - | ND |
KLHL14 | - | - | - | - | 3 | Gain | ND |
KLHL23 | p.C126Lfs*2 | Frame_Shift_Ins | INS | 0.309 | 2 | - | ND |
KLHL29 | p.Y227C | Missense | SNP | 0.524 | 2 | - | ND |
KLHL40 | p.R269W | Missense | SNP | 0.062 | 2 | - | ND |
KLHL42 | p.C399Vfs*44 | Frame_Shift_Del | DEL | 0.385 | 2 | - | ND |
KLHL8 | - | - | - | - | 1 | Loss | ND |
KLK15 | p.R130C | Missense | SNP | 0.212 | 2 | - | ND |
KLLN | - | - | - | - | 3 | Gain | ND |
KMT2B | p.P1101Lfs*81 p.R1400C | Frame_Shift_Del Missense | DEL SNP | 0.144 0.511 | 2 | - | ND |
KMT2C | p.S143Vfs*3 p.P1838H | Frame_Shift_Del Missense | DEL SNP | 0.486 0.413 | 2 | - | ND |
KMT2D | p.P2354Lfs*30 p.R5086* | Frame_Shift_Del Nonsense | DEL SNP | 0.437 0.528 | 2 | - | ND |
KMT2E | p.M1354* | Frame_Shift_Del | DEL | 0.422 | 2 | - | ND |
KNDC1 | p.Q1704* p.D1713N | Nonsense Missense | SNP SNP | 0.706 0.098 | 3 | Gain | ND |
KRAS | p.G13D | Missense | SNP | 0.129 | 2 | - | ND |
KRBOX1 | p.Q77Sfs*6 | Frame_Shift_Del | DEL | 0.575 | 2 | - | ND |
KRT33B | p.C21R | Missense | SNP | 0.212 | 2 | - | ND |
KRT34 | p.R376W | Missense | SNP | 0.589 | 2 | - | ND |
KRT76 | p.L190H | Missense | SNP | 0.275 | 2 | - | ND |
KYAT3 | p.I153T | Missense | SNP | 0.472 | 2 | - | ND |
L3MBTL4 | - | - | - | - | 3 | Gain | ND |
LAMA1 | p.N496Tfs*27 | Frame_Shift_Del | DEL | 0.212 | 3 | Gain | ND |
LAMA3 | p.P1658Lfs*91 p.R1841H | Frame_Shift_Del Missense | DEL SNP | 0.110 0.671 | 3 | Gain | ND |
LAMC3 | p.R152H | Missense | SNP | 0.437 | 2 | - | ND |
LARP4B | p.T163Hfs*47 | Frame_Shift_Del | DEL | 0.106 | 3 | Gain | ND |
LBX1 | - | - | - | - | 3 | Gain | ND |
LCLAT1 | p.N222Mfs*21 | Frame_Shift_Del | DEL | 0.333 | 2 | - | ND |
LCOR | - | - | - | - | 3 | Gain | ND |
LCT | p.A952T | Missense | SNP | 0.478 | 2 | - | ND |
LDB1 | - | - | - | - | 3 | Gain | ND |
LDB3 | - | - | - | - | 3 | Gain | ND |
LDLRAD4 | - | - | - | - | 3 | Gain | ND |
LEFTY2 | p.P286Rfs*41 | Frame_Shift_Del | DEL | 0.409 | 2 | - | ND |
LEP | p.G8R | Missense | SNP | 0.500 | 2 | - | ND |
LGI1 | - | - | - | - | 3 | Gain | ND |
LGR4 | p.R304C | Missense | SNP | 0.476 | 2 | - | ND |
LHPP | - | - | - | - | 3 | Gain | ND |
LHX2 | p.T374Pfs*5 | Frame_Shift_Del | DEL | 0.464 | 2 | - | ND |
LHX9 | p.R271* | Nonsense | SNP | 0.265 | 2 | - | ND |
LIG3 | p.S241Rfs*65 | Frame_Shift_Del | DEL | 0.137 | 2 | - | ND |
LIG4 | p.D868Y | Missense | SNP | 0.122 | 2 | - | ND |
LIMA1 | p.T537Lfs*38 | Frame_Shift_Del | DEL | 0.426 | 2 | - | ND |
LIMCH1 | p.P998S | Missense | SNP | 0.193 | 2 | - | ND |
LIN54 | - | - | - | - | 1 | Loss | ND |
LIPA | - | - | - | - | 3 | Gain | ND |
LIPE | p.E943D | Missense | SNP | 0.530 | 2 | - | ND |
LIPF | - | - | - | - | 3 | Gain | ND |
LIPG | - | - | - | - | 3 | Gain | ND |
LIPJ | - | - | - | - | 3 | Gain | ND |
LIPK | - | - | - | - | 3 | Gain | ND |
LIPM | - | - | - | - | 3 | Gain | ND |
LIPN | - | - | - | - | 3 | Gain | ND |
LMAN1 | - | - | - | - | 3 | Gain | ND |
LOXHD1 | - | - | - | - | 3 | Gain | ND |
LOXL3 | p.R566H p.R148C | Missense Missense | SNP SNP | 0.243 0.551 | 2 | - | ND |
LOXL4 | p.E431D | Missense | SNP | 0.274 | 3 | Gain | ND |
LPA | p.R1464Q | Missense | SNP | 0.544 | 2 | - | ND |
LPAR5 | p.R78C | Missense | SNP | 0.515 | 2 | - | ND |
LPIN2 | - | - | - | - | 3 | Gain | ND |
LPO | p.G515Afs*9 | Frame_Shift_Del | DEL | 0.209 | 2 | - | ND |
LRBA | p.R1992Q | Missense | SNP | 0.423 | 2 | - | ND |
LRIT1 | - | - | - | - | 3 | Gain | ND |
LRIT2 | - | - | - | - | 3 | Gain | ND |
LRMDA | - | - | - | - | 3 | Gain | ND |
LRP1 | p.R1628H | Missense | SNP | 0.445 | 2 | - | ND |
LRP1B | p.G1820E | Missense | SNP | 0.475 | 2 | - | ND |
LRRC18 | - | - | - | - | 3 | Gain | ND |
LRRC20 | p.A121V | Missense | SNP | 0.108 | 3 | Gain | ND |
LRRC27 | - | - | - | - | 3 | Gain | ND |
LRRC30 | - | - | - | - | 3 | Gain | ND |
LRRC3B | p.T201Lfs*17 | Frame_Shift_Del | DEL | 0.490 | 2 | - | ND |
LRRC46 | p.P282H | Missense | SNP | 0.548 | 2 | - | ND |
LRRIQ1 | p.P1237H | Missense | SNP | 0.182 | 2 | - | ND |
LRRIQ3 | p.K244Nfs*17 | Frame_Shift_Del | DEL | 0.714 | 2 | - | ND |
LRRTM3 | - | - | - | - | 3 | Gain | ND |
LTBP2 | p.V1543I | Missense | SNP | 0.210 | 2 | - | ND |
LTBP3 | p.G152S | Missense | SNP | 0.092 | 2 | - | ND |
LYST | p.R3449Q | Missense | SNP | 0.515 | 2 | - | ND |
LYZL1 | p.G102S | Missense | SNP | 0.241 | 3 | Gain | ND |
LYZL2 | - | - | - | - | 3 | Gain | ND |
LZTR1 | p.A392V | Missense | SNP | 0.617 | 2 | - | ND |
LZTS2 | - | - | - | - | 3 | Gain | ND |
MACF1 | p.R4914H | Missense | SNP | 0.538 | 2 | - | ND |
MAGED2 | p.X362_splice | Splice_Site | SNP | 0.462 | ND | ND | ND |
MALRD1 | - | - | - | - | 3 | Gain | ND |
MALT1 | - | - | - | - | 3 | Gain | ND |
MAOA | p.R454* | Nonsense | SNP | 0.424 | ND | ND | ND |
MAP3K10 | p.P504Lfs*10 | Frame_Shift_Del | DEL | 0.165 | 2 | - | ND |
MAP3K7CL | p.A16T | Missense | SNP | 0.267 | 2 | - | ND |
MAP3K8 | - | - | - | - | 3 | Gain | ND |
MAP4K3 | p.G190Vfs*16 | Frame_Shift_Del | DEL | 0.402 | 2 | - | ND |
MAPK10 | - | - | - | - | 1 | Loss | ND |
MAPK4 | p.S386L | Missense | SNP | 0.097 | 3 | Gain | ND |
MAPK8 | - | - | - | - | 3 | Gain | ND |
MAPK8IP2 | p.R461* | Nonsense | SNP | 0.573 | 2 | - | ND |
MAPKAPK3 | p.R31Afs*47 | Frame_Shift_Ins | INS | 0.294 | 2 | - | ND |
MAPRE2 | p.A45V | Missense | SNP | 0.136 | 3 | Gain | ND |
MARCH5 | - | - | - | - | 3 | Gain | ND |
MARCH8 | - | - | - | - | 3 | Gain | ND |
MARCKS | p.A328Sfs*14 | Frame_Shift_Ins | INS | 0.298 | 2 | - | ND |
MARVELD1 | - | - | - | - | 3 | Gain | ND |
MASP1 | p.S272N | Missense | SNP | 0.413 | 2 | - | ND |
MAST1 | p.G1280D | Missense | SNP | 0.513 | 2 | - | ND |
MASTL | - | - | - | - | 3 | Gain | ND |
MAT1A | - | - | - | - | 3 | Gain | ND |
MATN4 | p.R394H | Missense | SNP | 0.277 | 2 | - | ND |
MAZ | p.F14Lfs*34 | Frame_Shift_Ins | INS | 0.278 | 2 | - | ND |
MBD1 | - | - | - | - | 3 | Gain | ND |
MBD2 | - | - | - | - | 3 | Gain | ND |
MBL2 | - | - | - | - | 3 | Gain | ND |
MBP | - | - | - | - | 3 | Gain | ND |
MBTPS1 | p.G751R | Missense | SNP | 0.443 | 2 | - | ND |
MC2R | - | - | - | - | 3 | Gain | ND |
MC4R | - | - | - | - | 3 | Gain | ND |
MC5R | - | - | - | - | 3 | Gain | ND |
MCCC1 | p.A670V | Missense | SNP | 0.445 | 2 | - | ND |
MCHR2 | p.R140* | Nonsense | SNP | 0.537 | 2 | - | ND |
MCM10 | - | - | - | - | 3 | Gain | ND |
MCM3AP | p.R906C | Missense | SNP | 0.216 | 2 | - | ND |
MCM4 | p.T629Qfs*18 | Frame_Shift_Del | DEL | 0.365 | 2 | - | ND |
MCM5 | p.R114Q | Missense | SNP | 0.528 | 2 | - | ND |
MCMBP | - | - | - | - | 3 | Gain | ND |
MCPH1 | p.T468Pfs*32 | Frame_Shift_Del | DEL | 0.409 | 2 | - | ND |
MCTP1 | p.F877Ifs*4 | Frame_Shift_Ins | INS | 0.302 | 2 | - | ND |
MCU | - | - | - | - | 3 | Gain | ND |
MDH1B | p.V475I | Missense | SNP | 0.122 | 2 | - | ND |
MDM2 | - | - | - | - | 3 | Gain | ND |
MDN1 | p.E2692* | Frame_Shift_Ins | INS | 0.143 | 2 | - | ND |
ME2 | - | - | - | - | 3 | Gain | ND |
MED12 | p.G1293* | Nonsense | SNP | 0.315 | ND | ND | ND |
MED12L | p.A1125V | Missense | SNP | 0.212 | 2 | - | ND |
MEGF10 | p.K667* | Nonsense | SNP | 0.288 | 2 | - | ND |
MEIG1 | - | - | - | - | 3 | Gain | ND |
MEP1B | - | - | - | - | 3 | Gain | ND |
MEPE | - | - | - | - | 1 | Loss | ND |
MEST | p.R167Q | Missense | SNP | 0.466 | 2 | - | ND |
METTL4 | - | - | - | - | 3 | Gain | ND |
METTL7A | p.R93M | Missense | SNP | 0.083 | 2 | - | ND |
METTL9 | p.L110M | Missense | SNP | 0.535 | 2 | - | ND |
MEX3B | p.Y55Rfs*21 | Frame_Shift_Del | DEL | 0.439 | 2 | - | ND |
MEX3C | - | - | - | - | 3 | Gain | ND |
MFHAS1 | p.A559T | Missense | SNP | 0.184 | 2 | - | ND |
MFSD1 | p.R58W | Missense | SNP | 0.366 | 2 | - | ND |
MFSD13A | - | - | - | - | 3 | Gain | ND |
MFSD4B | p.C202Vfs*4 | Frame_Shift_Del | DEL | 0.447 | 2 | - | ND |
MGAM | p.E908D | Missense | SNP | 0.276 | 2 | - | ND |
MGAT4C | p.G113Efs*20 | Frame_Shift_Del | DEL | 0.174 | 2 | - | ND |
MGMT | - | - | - | - | 3 | Gain | ND |
MIB1 | - | - | - | - | 3 | Gain | ND |
MICAL1 | p.G115R | Missense | SNP | 0.455 | 2 | - | ND |
MICAL2 | p.A580T | Missense | SNP | 0.298 | 2 | - | ND |
MICAL3 | p.R1405Gfs*33 | Frame_Shift_Del | DEL | 0.535 | 2 | - | ND |
MICALCL | p.S51Afs*49 p.R261Q | Frame_Shift_Del Missense | DEL SNP | 0.428 0.518 | ND | ND | ND |
MICU1 | p.R263C | Missense | SNP | 0.137 | 3 | Gain | ND |
MICU3 | p.R5* | Nonsense | SNP | 0.294 | 2 | - | ND |
MIER2 | p.D492N | Missense | SNP | 0.186 | 2 | - | ND |
MINDY3 | - | - | - | - | 3 | Gain | ND |
MINPP1 | - | - | - | - | 3 | Gain | ND |
MISP | p.G116R | Missense | SNP | 0.456 | 2 | - | ND |
MKI67 | p.D2147Qfs*29 | Frame_Shift_Ins | INS | 0.079 | 3 | Gain | ND |
MKX | - | - | - | - | 3 | Gain | ND |
MLC1 | p.L217M | Missense | SNP | 0.482 | 2 | - | ND |
MLLT10 | - | - | - | - | 3 | Gain | ND |
MLLT3 | p.R556C | Missense | SNP | 0.470 | 2 | - | ND |
MLXIP | p.R214C p.A498T | Missense Missense | SNP SNP | 0.537 0.591 | 2 | - | ND |
MMP21 | - | - | - | - | 3 | Gain | ND |
MMRN1 | - | - | - | - | 1 | Loss | ND |
MMRN2 | - | - | - | - | 3 | Gain | ND |
MMS19 | - | - | - | - | 3 | Gain | ND |
MOCOS | - | - | - | - | 3 | Gain | ND |
MOGAT1 | p.G112E | Missense | SNP | 0.228 | 2 | - | ND |
MORF4L1 | p.A252V | Missense | SNP | 0.282 | 2 | - | ND |
MORN4 | - | - | - | - | 3 | Gain | ND |
MPP7 | - | - | - | - | 3 | Gain | ND |
MPPE1 | p.E83Gfs*40 | Frame_Shift_Ins | INS | 0.247 | 3 | Gain | ND |
MRC1 | - | - | - | - | 3 | Gain | ND |
MRGPRF | p.A97V | Missense | SNP | 0.210 | 2 | - | ND |
MRO | - | - | - | - | 3 | Gain | ND |
MROH8 | p.L976I | Missense | SNP | 0.207 | 2 | - | ND |
MRPL1 | - | - | - | - | 1 | Loss | ND |
MRPL43 | - | - | - | - | 3 | Gain | ND |
MRPS16 | - | - | - | - | 3 | Gain | ND |
MRPS18C | - | - | - | - | 1 | Loss | ND |
MSMB | - | - | - | - | 3 | Gain | ND |
MSRB2 | - | - | - | - | 3 | Gain | ND |
MSS51 | - | - | - | - | 3 | Gain | ND |
MST1R | p.V898M | Missense | SNP | 0.349 | 2 | - | ND |
MTA1 | p.R682C | Missense | SNP | 0.491 | 2 | - | ND |
MTCL1 | p.A1208V | Missense | SNP | 0.149 | 3 | Gain | ND |
MTG1 | - | - | - | - | 3 | Gain | ND |
MTHFD2L | - | - | - | - | 1 | Loss | ND |
MTPAP | - | - | - | - | 3 | Gain | ND |
MTSS1L | p.G560Afs*34 | Frame_Shift_Del | DEL | 0.532 | 2 | - | ND |
MUC15 | p.K20Nfs*12 | Frame_Shift_Del | DEL | 0.472 | 2 | - | ND |
MUC16 | p.R12249H p.G5546R | Missense Missense | SNP SNP | 0.228 0.129 | 2 | - | ND |
MUC5AC | p.M5088I | Missense | SNP | 0.558 | 2 | - | ND |
MXI1 | - | - | - | - | 3 | Gain | ND |
MXRA5 | p.Q2399K p.R2147H | Missense Missense | SNP SNP | 0.232 0.146 | ND | ND | ND |
MXRA8 | p.R301Gfs*107 | Frame_Shift_Del | DEL | 0.512 | 2 | - | ND |
MYADM | p.A189V p.A220T | Missense Missense | SNP SNP | 0.149 0.270 | 2 | - | ND |
MYCBP2 | p.G3497* | Nonsense | SNP | 0.521 | 2 | - | ND |
MYEOV | p.W272Gfs*66 | Frame_Shift_Del | DEL | 0.500 | 2 | - | ND |
MYH10 | p.Q886R | Missense | SNP | 0.574 | 2 | - | ND |
MYH7 | p.E1350K | Missense | SNP | 0.242 | 2 | - | ND |
MYH9 | p.L812I | Missense | SNP | 0.425 | 2 | - | ND |
MYL1 | p.E165D | Missense | SNP | 0.186 | 2 | - | ND |
MYL12A | - | - | - | - | 3 | Gain | ND |
MYL12B | - | - | - | - | 3 | Gain | ND |
MYL7 | p.Q79R | Missense | SNP | 0.515 | 2 | - | ND |
MYLK | p.P21H | Missense | SNP | 0.329 | 2 | - | ND |
MYO1G | p.R37C | Missense | SNP | 0.534 | 2 | - | ND |
MYO3A | - | - | - | - | 3 | Gain | ND |
MYO5A | p.I1440Lfs*4 p.A695T | Frame_Shift_Del Missense | DEL SNP | 0.305 0.204 | 2 | - | ND |
MYO5B | - | - | - | - | 3 | Gain | ND |
MYO7B | p.P107L | Missense | SNP | 0.429 | 2 | - | ND |
MYOF | p.I1430V | Missense | SNP | 0.260 | 3 | Gain | ND |
MYOG | p.S77P | Missense | SNP | 0.204 | 2 | - | ND |
MYOM1 | - | - | - | - | 3 | Gain | ND |
MYOM3 | p.E1430K | Missense | SNP | 0.468 | 2 | - | ND |
MYOZ1 | - | - | - | - | 3 | Gain | ND |
MYPN | p.I891* | Frame_Shift_Del | DEL | 0.244 | 3 | Gain | ND |
MZT2B | - | - | - | - | 1 | Loss | ND |
NAA11 | - | - | - | - | 1 | Loss | ND |
NAAA | - | - | - | - | 1 | Loss | ND |
NADSYN1 | p.V454I | Missense | SNP | 0.275 | 2 | - | ND |
NANOS1 | - | - | - | - | 3 | Gain | ND |
NAP1L5 | p.A32V | Missense | SNP | 0.404 | 1 | Loss | ND |
NAPG | - | - | - | - | 3 | Gain | ND |
NARS | p.V536M | Missense | SNP | 0.406 | 3 | Gain | ND |
NAV2 | p.P29Rfs*11 | Frame_Shift_Del | DEL | 0.174 | 2 | - | ND |
NCKIPSD | p.F631del | In_Frame_Del | DEL | 0.571 | 2 | - | ND |
NCOA2 | p.V1419M | Missense | SNP | 0.458 | 2 | - | ND |
NCOA3 | p.Q78* | Nonsense | SNP | 0.667 | 2 | - | ND |
NCOA4 | - | - | - | - | 3 | Gain | ND |
NDC80 | p.T571M | Missense | SNP | 0.667 | 3 | Gain | ND |
NDST2 | - | - | - | - | 3 | Gain | ND |
NDUFB8 | - | - | - | - | 3 | Gain | ND |
NDUFS7 | p.A187T | Missense | SNP | 0.494 | 2 | - | ND |
NDUFV2 | - | - | - | - | 3 | Gain | ND |
NEBL | - | - | - | - | 3 | Gain | ND |
NEDD4L | p.N156Mfs*51 | Frame_Shift_Del | DEL | 0.653 | 3 | Gain | ND |
NEK1 | p.D1179Y | Missense | SNP | 0.475 | 2 | - | ND |
NEK4 | p.R743W | Missense | SNP | 0.560 | 2 | - | ND |
NET1 | - | - | - | - | 3 | Gain | ND |
NETO1 | - | - | - | - | 3 | Gain | ND |
NEURL1 | - | - | - | - | 3 | Gain | ND |
NEURL1B | p.R533Q | Missense | SNP | 0.439 | 2 | - | ND |
NEURL4 | p.L1256Cfs*12 | Frame_Shift_Del | DEL | 0.454 | 2 | - | ND |
NEUROD6 | p.K83Rfs*35 | Frame_Shift_Del | DEL | 0.444 | 2 | - | ND |
NEUROG3 | - | - | - | - | 3 | Gain | ND |
NF1 | p.P678Rfs*10 | Frame_Shift_Del | DEL | 0.454 | 2 | - | ND |
NFATC1 | - | - | - | - | 3 | Gain | ND |
NFE2 | p.R300Q | Missense | SNP | 0.543 | 2 | - | ND |
NFKB2 | - | - | - | - | 3 | Gain | ND |
NHLRC2 | - | - | - | - | 3 | Gain | ND |
NHSL2 | p.S123L | Missense | SNP | 0.463 | ND | ND | ND |
NIPAL3 | p.R133C | Missense | SNP | 0.211 | 2 | - | ND |
NKAPL | p.R127Dfs*8 | Frame_Shift_Del | DEL | 0.200 | 2 | - | ND |
NKTR | p.N766Ifs*30 | Frame_Shift_Del | DEL | 0.197 | 2 | - | ND |
NKX1-2 | - | - | - | - | 3 | Gain | ND |
NKX2-3 | - | - | - | - | 3 | Gain | ND |
NKX2-8 | p.Q116H | Missense | SNP | 0.277 | 2 | - | ND |
NKX6-1 | - | - | - | - | 1 | Loss | ND |
NKX6-2 | - | - | - | - | 3 | Gain | ND |
NLRC5 | p.R1500W | Missense | SNP | 0.388 | 2 | - | ND |
NLRP2 | p.R587Q | Missense | SNP | 0.468 | 2 | - | ND |
NLRP8 | p.R175M p.E619G | Missense Missense | SNP SNP | 0.305 0.512 | 2 | - | ND |
NMT2 | - | - | - | - | 3 | Gain | ND |
NOC3L | - | - | - | - | 3 | Gain | ND |
NODAL | - | - | - | - | 3 | Gain | ND |
NOL4 | - | - | - | - | 3 | Gain | ND |
NOL4L | p.Y133Tfs*20 | Frame_Shift_Del | DEL | 0.149 | 2 | - | ND |
NOLC1 | - | - | - | - | 3 | Gain | ND |
NOTCH1 | p.Q462* | Nonsense | SNP | 0.469 | 2 | - | ND |
NOTCH2 | p.R1435W | Missense | SNP | 0.291 | 2 | - | ND |
NOVA1 | p.K210N | Missense | SNP | 0.435 | 2 | - | ND |
NPBWR2 | p.R243Q | Missense | SNP | 0.211 | 2 | - | ND |
NPC1 | - | - | - | - | 3 | Gain | ND |
NPFFR1 | - | - | - | - | 3 | Gain | ND |
NPM3 | - | - | - | - | 3 | Gain | ND |
NPR3 | p.A180T | Missense | SNP | 0.293 | 2 | - | ND |
NPRL3 | p.Y531H | Missense | SNP | 0.551 | 2 | - | ND |
NPS | - | - | - | - | 3 | Gain | ND |
NPY4R | - | - | - | - | 3 | Gain | ND |
NPY4R2 | - | - | - | - | 3 | Gain | ND |
NR2F1 | p.N263D | Missense | SNP | 0.514 | 2 | - | ND |
NR3C2 | p.V618A | Missense | SNP | 0.432 | 2 | - | ND |
NRAP | p.A539V | Missense | SNP | 0.118 | 3 | Gain | ND |
NRBF2 | - | - | - | - | 3 | Gain | ND |
NRG1 | p.E79* | Nonsense | SNP | 0.605 | 2 | - | ND |
NRG3 | - | - | - | - | 3 | Gain | ND |
NRK | p.Q410H p.Q809R | Missense Missense | SNP SNP | 0.411 0.437 | ND | ND | ND |
NRP1 | - | - | - | - | 3 | Gain | ND |
NSD1 | p.M1531Cfs*43 | Frame_Shift_Del | DEL | 0.487 | 2 | - | ND |
NSMCE1 | p.V27M | Missense | SNP | 0.243 | 2 | - | ND |
NSMCE4A | - | - | - | - | 3 | Gain | ND |
NSUN6 | - | - | - | - | 3 | Gain | ND |
NT5C2 | - | - | - | - | 3 | Gain | ND |
NTNG2 | p.G144S | Missense | SNP | 0.530 | 2 | - | ND |
NTRK1 | p.R347H | Missense | SNP | 0.599 | 2 | - | ND |
NUDT13 | - | - | - | - | 3 | Gain | ND |
NUDT5 | - | - | - | - | 3 | Gain | ND |
NUDT9 | - | - | - | - | 1 | Loss | ND |
NUP133 | p.K968del | In_Frame_Del | DEL | 0.419 | 2 | - | ND |
NUP54 | - | - | - | - | 1 | Loss | ND |
NXPH4 | p.G210Afs*166 | Frame_Shift_Del | DEL | 0.561 | 2 | - | ND |
OAT | - | - | - | - | 3 | Gain | ND |
OBSCN | p.G2909E | Missense | SNP | 0.573 | 2 | - | ND |
OCA2 | p.R555H | Missense | SNP | 0.273 | 2 | - | ND |
ODAPH | - | - | - | - | 1 | Loss | ND |
OGA | - | - | - | - | 3 | Gain | ND |
OGDHL | p.R758W | Missense | SNP | 0.095 | 3 | Gain | ND |
OIT3 | - | - | - | - | 3 | Gain | ND |
OLAH | - | - | - | - | 3 | Gain | ND |
OLR1 | p.L206M | Missense | SNP | 0.221 | 2 | - | ND |
ONECUT2 | - | - | - | - | 3 | Gain | ND |
OPALIN | - | - | - | - | 3 | Gain | ND |
OPN4 | - | - | - | - | 3 | Gain | ND |
OPTN | - | - | - | - | 3 | Gain | ND |
OR10H5 | p.R90H | Missense | SNP | 0.210 | 2 | - | ND |
OR10K1 | p.R220H | Missense | SNP | 0.235 | 2 | - | ND |
OR13A1 | - | - | - | - | 3 | Gain | ND |
OR13C3 | p.A149T | Missense | SNP | 0.494 | 2 | - | ND |
OR13H1 | p.R298W | Missense | SNP | 0.529 | ND | ND | ND |
OR14C36 | p.F105Lfs*28 | Frame_Shift_Del | DEL | 0.445 | 2 | - | ND |
OR1A2 | p.R122* | Nonsense | SNP | 0.438 | 2 | - | ND |
OR1S2 | p.I26T | Missense | SNP | 0.543 | 2 | - | ND |
OR2J2 | p.N6Mfs*21 | Frame_Shift_Del | DEL | 0.500 | 2 | - | ND |
OR2T10 | - | - | - | - | 1 | Loss | ND |
OR2T11 | - | - | - | - | 1 | Loss | ND |
OR2T35 | - | - | - | - | 1 | Loss | ND |
OR4C12 | p.R258C | Missense | SNP | 0.506 | 2 | - | ND |
OR4D6 | p.T241M | Missense | SNP | 0.430 | 2 | - | ND |
OR4D9 | p.S116C | Missense | SNP | 0.462 | 2 | - | ND |
OR4K1 | p.P280L | Missense | SNP | 0.201 | 2 | - | ND |
OR4L1 | p.K228Nfs*55 | Frame_Shift_Del | DEL | 0.310 | 2 | - | ND |
OR51B5 | p.M63I | Missense | SNP | 0.574 | 2 | - | ND |
OR6C75 | p.R221W | Missense | SNP | 0.470 | 2 | - | ND |
OR6N1 | p.R165C | Missense | SNP | 0.451 | 2 | - | ND |
OR7G2 | p.Y280H | Missense | SNP | 0.184 | 2 | - | ND |
OR8B12 | p.S234F | Missense | SNP | 0.071 | 2 | - | ND |
OR8K3 | p.F311Lfs*? | Frame_Shift_Del | DEL | 0.333 | 2 | - | ND |
ORC3 | p.T195M | Missense | SNP | 0.256 | 2 | - | ND |
OSBPL1A | - | - | - | - | 3 | Gain | ND |
OTUD1 | - | - | - | - | 3 | Gain | ND |
P2RX5 | p.Y338C | Missense | SNP | 0.462 | 2 | - | ND |
P2RX6 | p.G63Afs*39 | Frame_Shift_Del | DEL | 0.292 | 2 | - | ND |
P3H2 | p.K430Sfs*6 | Frame_Shift_Del | DEL | 0.375 | 2 | - | ND |
P4HA1 | - | - | - | - | 3 | Gain | ND |
P4HTM | p.L416Cfs*6 | Frame_Shift_Del | DEL | 0.536 | 2 | - | ND |
PALD1 | - | - | - | - | 3 | Gain | ND |
PANK1 | - | - | - | - | 3 | Gain | ND |
PANX3 | p.R156H | Missense | SNP | 0.248 | 2 | - | ND |
PAOX | - | - | - | - | 3 | Gain | ND |
PAPSS2 | - | - | - | - | 3 | Gain | ND |
PAQR3 | - | - | - | - | 1 | Loss | ND |
PARD3 | - | - | - | - | 3 | Gain | ND |
PARD3B | p.R932G | Missense | SNP | 0.441 | 2 | - | ND |
PARD6G | - | - | - | - | 3 | Gain | ND |
PARG | - | - | - | - | 3 | Gain | ND |
PARM1 | - | - | - | - | 1 | Loss | ND |
PARP9 | p.A55T | Missense | SNP | 0.581 | 2 | - | ND |
PAX2 | - | - | - | - | 3 | Gain | ND |
PAX7 | p.A259V | Missense | SNP | 0.584 | 2 | - | ND |
PBLD | - | - | - | - | 3 | Gain | ND |
PBX1 | p.G124R | Missense | SNP | 0.641 | 2 | - | ND |
PC | p.R453Q | Missense | SNP | 0.375 | 2 | - | ND |
PCBD1 | - | - | - | - | 3 | Gain | ND |
PCDH1 | p.K1028Qfs*33 | Frame_Shift_Ins | INS | 0.323 | 2 | - | ND |
PCDH10 | p.D245G | Missense | SNP | 0.261 | 2 | - | ND |
PCDH12 | p.L685Yfs*7 | Frame_Shift_Del | DEL | 0.456 | 2 | - | ND |
PCDH15 | p.P1882H | Missense | SNP | 0.164 | 3 | Gain | ND |
PCDH8 | p.E648K | Missense | SNP | 0.138 | 2 | - | ND |
PCDHA2 | p.A2V | Missense | SNP | 0.245 | 2 | - | ND |
PCDHA6 | p.R428W | Missense | SNP | 0.583 | 2 | - | ND |
PCDHB1 | p.P147T | Missense | SNP | 0.290 | 2 | - | ND |
PCDHB16 | p.I142Yfs*7 | Frame_Shift_Del | DEL | 0.498 | 2 | - | ND |
PCDHB4 | p.G536S | Missense | SNP | 0.455 | 2 | - | ND |
PCDHGA3 | p.A578V | Missense | SNP | 0.406 | 2 | - | ND |
PCGF5 | - | - | - | - | 3 | Gain | ND |
PCGF6 | - | - | - | - | 3 | Gain | ND |
PCK1 | p.I612Rfs*5 | Frame_Shift_Ins | INS | 0.200 | 2 | - | ND |
PCLO | p.L2443Vfs*15 p.T1689Qfs*16 p.S3436G p.S1052L | Frame_Shift_Ins Frame_Shift_Del Missense Missense | INS DEL SNP SNP | 0.280 0.280 0.505 0.412 | 2 | - | ND |
PCNX1 | p.E466K | Missense | SNP | 0.485 | 2 | - | ND |
PCSK1N | p.A31Rfs*7 | Frame_Shift_Del | DEL | 0.405 | ND | ND | ND |
PCSK9 | p.R93H | Missense | SNP | 0.519 | 2 | - | ND |
PCYOX1 | p.R484C | Missense | SNP | 0.557 | 2 | - | ND |
PDCD11 | - | - | - | - | 3 | Gain | ND |
PDCD4 | - | - | - | - | 3 | Gain | ND |
PDE5A | p.H617Y | Missense | SNP | 0.514 | 2 | - | ND |
PDE6C | - | - | - | - | 3 | Gain | ND |
PDLIM1 | - | - | - | - | 3 | Gain | ND |
PDSS1 | - | - | - | - | 3 | Gain | ND |
PDX1 | p.S231P | Missense | SNP | 0.485 | 2 | - | ND |
PDZD2 | p.K104Qfs*38 | Frame_Shift_Ins | INS | 0.228 | 2 | - | ND |
PDZD3 | p.G92* | Nonsense | SNP | 0.253 | 2 | - | ND |
PDZD7 | - | - | - | - | 3 | Gain | ND |
PDZD8 | - | - | - | - | 3 | Gain | ND |
PDZRN3 | p.A947T | Missense | SNP | 0.228 | 2 | - | ND |
PEG3 | p.S403L | Missense | SNP | 0.486 | 2 | - | ND |
PER2 | p.A1049T p.V368M | Missense Missense | SNP SNP | 0.225 0.203 | 2 | - | ND |
PEX5 | p.R241W | Missense | SNP | 0.432 | 2 | - | ND |
PF4 | - | - | - | - | 1 | Loss | ND |
PF4V1 | - | - | - | - | 1 | Loss | ND |
PFKFB3 | - | - | - | - | 3 | Gain | ND |
PFKP | p.R265Gfs*2 p.I320V | Frame_Shift_Del Missense | DEL SNP | 0.220 0.727 | 3 | Gain | ND |
PGAM1 | - | - | - | - | 3 | Gain | ND |
PGAP2 | p.R314* | Nonsense | SNP | 0.393 | 2 | - | ND |
PHF13 | p.A145T | Missense | SNP | 0.396 | 2 | - | ND |
PHF21A | p.P652Lfs*104 | Frame_Shift_Del | DEL | 0.506 | 2 | - | ND |
PHKG2 | p.R71W | Missense | SNP | 0.476 | 2 | - | ND |
PHLPP1 | - | - | - | - | 3 | Gain | ND |
PHYH | - | - | - | - | 3 | Gain | ND |
PHYHIPL | - | - | - | - | 3 | Gain | ND |
PI4K2A | - | - | - | - | 3 | Gain | ND |
PIAS2 | - | - | - | - | 3 | Gain | ND |
PIDD1 | p.L30V | Missense | SNP | 0.224 | 2 | - | ND |
PIEZO2 | - | - | - | - | 3 | Gain | ND |
PIGN | - | - | - | - | 3 | Gain | ND |
PIGY | - | - | - | - | 1 | Loss | ND |
PIK3AP1 | - | - | - | - | 3 | Gain | ND |
PIK3C2A | p.A916T | Missense | SNP | 0.262 | 2 | - | ND |
PIK3C3 | - | - | - | - | 3 | Gain | ND |
PIK3CD | p.C355Y | Missense | SNP | 0.529 | 2 | - | ND |
PIK3R4 | p.V448I | Missense | SNP | 0.388 | 2 | - | ND |
PIP4K2A | - | - | - | - | 3 | Gain | ND |
PIP5KL1 | p.R9Afs*47 | Frame_Shift_Del | DEL | 0.449 | 2 | - | ND |
PITRM1 | - | - | - | - | 3 | Gain | ND |
PITX3 | - | - | - | - | 3 | Gain | ND |
PIWIL2 | p.S787N | Missense | SNP | 0.182 | 2 | - | ND |
PIWIL3 | p.R256H | Missense | SNP | 0.460 | 2 | - | ND |
PKD2 | - | - | - | - | 1 | Loss | ND |
PKD2L1 | - | - | - | - | 3 | Gain | ND |
PKN2 | p.E854D | Missense | SNP | 0.480 | 2 | - | ND |
PLA2G12B | - | - | - | - | 3 | Gain | ND |
PLAC8 | - | - | - | - | 1 | Loss | ND |
PLAC9 | - | - | - | - | 3 | Gain | ND |
PLAT | p.T46M | Missense | SNP | 0.630 | 2 | - | ND |
PLAU | - | - | - | - | 3 | Gain | ND |
PLCE1 | - | - | - | - | 3 | Gain | ND |
PLD3 | p.A402V | Missense | SNP | 0.538 | 2 | - | ND |
PLD5 | p.V376I | Missense | SNP | 0.498 | 2 | - | ND |
PLEC | p.T3608M p.E2305* p.R609H | Missense Nonsense Missense | SNP SNP SNP | 0.551 0.400 0.437 | 2 | - | ND |
PLEKHA1 | - | - | - | - | 3 | Gain | ND |
PLEKHO1 | p.Q256Rfs*6 | Frame_Shift_Del | DEL | 0.462 | 2 | - | ND |
PLEKHS1 | - | - | - | - | 3 | Gain | ND |
PLPP4 | - | - | - | - | 3 | Gain | ND |
PLXDC2 | - | - | - | - | 3 | Gain | ND |
PLXNA1 | p.T508M p.D1478N | Missense Missense | SNP SNP | 0.139 0.597 | 2 | - | ND |
PMAIP1 | - | - | - | - | 3 | Gain | ND |
PML | p.E27Rfs*71 | Frame_Shift_Del | DEL | 0.204 | 2 | - | ND |
PMS2 | p.R199C | Missense | SNP | 0.447 | 2 | - | ND |
PNISR | p.R697Gfs*15 | Frame_Shift_Del | DEL | 0.419 | 2 | - | ND |
PNLIP | - | - | - | - | 3 | Gain | ND |
PNLIPRP1 | - | - | - | - | 3 | Gain | ND |
PNLIPRP2 | - | - | - | - | 3 | Gain | ND |
PNLIPRP3 | - | - | - | - | 3 | Gain | ND |
PNPLA2 | p.A432T | Missense | SNP | 0.517 | 2 | - | ND |
POLI | - | - | - | - | 3 | Gain | ND |
POLL | - | - | - | - | 3 | Gain | ND |
POLR2A | p.R364S | Missense | SNP | 0.282 | 2 | - | ND |
POLR3A | - | - | - | - | 3 | Gain | ND |
POTEC | - | - | - | - | 3 | Gain | ND |
POU2F2 | p.S577G | Missense | SNP | 0.529 | 2 | - | ND |
PPA1 | - | - | - | - | 3 | Gain | ND |
PPBP | - | - | - | - | 1 | Loss | ND |
PPDPF | p.R55Afs*59 | Frame_Shift_Del | DEL | 0.459 | 2 | - | ND |
PPEF2 | - | - | - | - | 1 | Loss | ND |
PPFIA2 | p.R50W | Missense | SNP | 0.455 | 2 | - | ND |
PPFIA4 | p.R820H | Missense | SNP | 0.113 | 2 | - | ND |
PPHLN1 | p.E370G | Missense | SNP | 0.481 | 2 | - | ND |
PPIF | - | - | - | - | 3 | Gain | ND |
PPIL1 | p.R72* | Nonsense | SNP | 0.608 | 2 | - | ND |
PPL | p.R419Q | Missense | SNP | 0.402 | 2 | - | ND |
PPM1K | - | - | - | - | 1 | Loss | ND |
PPP1R12B | p.R49H | Missense | SNP | 0.219 | 2 | - | ND |
PPP1R12C | p.I373Sfs*51 | Frame_Shift_Del | DEL | 0.426 | 2 | - | ND |
PPP1R3C | - | - | - | - | 3 | Gain | ND |
PPP2R1A | p.T524M | Missense | SNP | 0.531 | 2 | - | ND |
PPP2R2D | - | - | - | - | 3 | Gain | ND |
PPP3CB | - | - | - | - | 3 | Gain | ND |
PPP4R1 | - | - | - | - | 3 | Gain | ND |
PPRC1 | p.G704Vfs*30 | Frame_Shift_Del | DEL | 0.173 | 3 | Gain | ND |
PQLC1 | - | - | - | - | 3 | Gain | ND |
PRAP1 | - | - | - | - | 3 | Gain | ND |
PRDM8 | - | - | - | - | 1 | Loss | ND |
PRDX3 | - | - | - | - | 3 | Gain | ND |
PRDX4 | p.R171Efs*6 | Frame_Shift_Del | DEL | 0.212 | ND | ND | ND |
PRELID3A | - | - | - | - | 3 | Gain | ND |
PRELP | p.N334Qfs*8 | Frame_Shift_Ins | INS | 0.285 | 2 | - | ND |
PRF1 | - | - | - | - | 3 | Gain | ND |
PRG4 | p.T367I | Missense | SNP | 0.404 | 2 | - | ND |
PRICKLE3 | p.Q533R | Missense | SNP | 0.408 | ND | ND | ND |
PRKCB | p.V177A | Missense | SNP | 0.061 | 2 | - | ND |
PRKCDBP | p.G182R | Missense | SNP | 0.177 | ND | ND | ND |
PRKCI | p.R192W | Missense | SNP | 0.162 | 2 | - | ND |
PRKCQ | p.R703W | Missense | SNP | 0.137 | 3 | Gain | ND |
PRKG1 | p.R297K | Missense | SNP | 0.091 | 3 | Gain | ND |
PRKG2 | - | - | - | - | 1 | Loss | ND |
PRLHR | p.R270H | Missense | SNP | 0.117 | 3 | Gain | ND |
PRMT2 | p.A23V | Missense | SNP | 0.395 | 2 | - | ND |
PROM2 | p.E728Vfs*17 | Frame_Shift_Del | DEL | 0.357 | 2 | - | ND |
PROSC | p.Q71H | Missense | SNP | 0.596 | ND | ND | ND |
PROSER2 | - | - | - | - | 3 | Gain | ND |
PROX1 | p.P143S | Missense | SNP | 0.229 | 2 | - | ND |
PRPF18 | - | - | - | - | 3 | Gain | ND |
PRPF40B | p.P40L p.R491* | Missense Nonsense | SNP SNP | 0.575 0.441 | 2 | - | ND |
PRPF8 | p.R49W | Missense | SNP | 0.476 | 2 | - | ND |
PRR12 | p.F1281L | Missense | SNP | 0.491 | 2 | - | ND |
PRR14L | p.F1767del | In_Frame_Del | DEL | 0.424 | 2 | - | ND |
PRR26 | - | - | - | - | 3 | Gain | ND |
PRR35 | p.A246Gfs*88 | Frame_Shift_Ins | INS | 0.225 | 2 | - | ND |
PRSS8 | p.K231N | Missense | SNP | 0.119 | 2 | - | ND |
PRTFDC1 | - | - | - | - | 3 | Gain | ND |
PRXL2A | - | - | - | - | 3 | Gain | ND |
PSAP | - | - | - | - | 3 | Gain | ND |
PSD | - | - | - | - | 3 | Gain | ND |
PSEN1 | p.S178Hfs*24 | Frame_Shift_Del | DEL | 0.333 | 2 | - | ND |
PSG2 | p.A263V | Missense | SNP | 0.512 | 2 | - | ND |
PSMA6 | p.V183* | Frame_Shift_Del | DEL | 0.052 | 2 | - | ND |
PSMA8 | - | - | - | - | 3 | Gain | ND |
PSMC2 | p.A269Sfs*7 | Frame_Shift_Ins | INS | 0.121 | 2 | - | ND |
PSMC5 | p.E396G | Missense | SNP | 0.508 | 2 | - | ND |
PSMD1 | p.K124Nfs*11 | Frame_Shift_Del | DEL | 0.235 | 2 | - | ND |
PSMG2 | - | - | - | - | 3 | Gain | ND |
PSTK | - | - | - | - | 3 | Gain | ND |
PSTPIP2 | - | - | - | - | 3 | Gain | ND |
PTCHD3 | p.A235V | Missense | SNP | 0.112 | 3 | Gain | ND |
PTEN | - | - | - | - | 3 | Gain | ND |
PTER | - | - | - | - | 3 | Gain | ND |
PTF1A | - | - | - | - | 3 | Gain | ND |
PTK2B | p.T603M | Missense | SNP | 0.213 | 2 | - | ND |
PTN | p.V42* | Frame_Shift_Del | DEL | 0.432 | 2 | - | ND |
PTOV1 | p.*417Sfs*14 | Frame_Shift_Del | DEL | 0.317 | 2 | - | ND |
PTPN13 | - | - | - | - | 1 | Loss | ND |
PTPN2 | - | - | - | - | 3 | Gain | ND |
PTPN20 | - | - | - | - | 3 | Gain | ND |
PTPRD | p.V1848I p.R401W | Missense Missense | SNP SNP | 0.588 0.439 | 2 | - | ND |
PTPRE | - | - | - | - | 3 | Gain | ND |
PTPRK | p.Y1057Tfs*61 | Frame_Shift_Del | DEL | 0.176 | 2 | - | ND |
PTPRM | p.R226* | Nonsense | SNP | 0.125 | 3 | Gain | ND |
PTPRT | p.P372L | Missense | SNP | 0.508 | 2 | - | ND |
PUM1 | p.R922Q | Missense | SNP | 0.556 | 2 | - | ND |
PWWP2B | - | - | - | - | 3 | Gain | ND |
PYGO2 | p.Q150Rfs*11 | Frame_Shift_Del | DEL | 0.238 | 2 | - | ND |
PYROXD2 | - | - | - | - | 3 | Gain | ND |
PYURF | - | - | - | - | 1 | Loss | ND |
QKI | p.A273V | Missense | SNP | 0.524 | 2 | - | ND |
QSER1 | p.N1697Mfs*4 | Frame_Shift_Del | DEL | 0.509 | 2 | - | ND |
R3HCC1L | - | - | - | - | 3 | Gain | ND |
RAB11FIP2 | - | - | - | - | 3 | Gain | ND |
RAB11FIP4 | p.T257M | Missense | SNP | 0.655 | 2 | - | ND |
RAB12 | - | - | - | - | 3 | Gain | ND |
RAB18 | p.P4S | Missense | SNP | 0.273 | 3 | Gain | ND |
RAB27B | - | - | - | - | 3 | Gain | ND |
RAB31 | - | - | - | - | 3 | Gain | ND |
RAB3GAP2 | p.A428T | Missense | SNP | 0.199 | 2 | - | ND |
RAB40C | p.K261N | Missense | SNP | 0.462 | 2 | - | ND |
RAB4B | p.R129W | Missense | SNP | 0.446 | 2 | - | ND |
RABEP2 | p.Q470* | Nonsense | SNP | 0.404 | 2 | - | ND |
RADIL | p.V165M | Missense | SNP | 0.643 | 2 | - | ND |
RAI2 | p.V474M | Missense | SNP | 0.532 | ND | ND | ND |
RALBP1 | - | - | - | - | 3 | Gain | ND |
RALGAPB | p.F971Sfs*53 | Frame_Shift_Del | DEL | 0.413 | 2 | - | ND |
RANBP17 | p.N641Tfs*35 | Frame_Shift_Del | DEL | 0.303 | 2 | - | ND |
RANBP3 | p.T292M | Missense | SNP | 0.582 | 2 | - | ND |
RANGAP1 | p.G21Dfs*3 | Frame_Shift_Del | DEL | 0.471 | 2 | - | ND |
RAPGEF4 | p.E389Kfs*10 | Frame_Shift_Del | DEL | 0.421 | 2 | - | ND |
RASAL3 | p.R39H | Missense | SNP | 0.568 | 2 | - | ND |
RASGEF1A | - | - | - | - | 3 | Gain | ND |
RASGEF1B | - | - | - | - | 1 | Loss | ND |
RASGRP3 | p.R549Q | Missense | SNP | 0.615 | 2 | - | ND |
RASL11B | p.R109C | Missense | SNP | 0.540 | 2 | - | ND |
RASSF4 | - | - | - | - | 3 | Gain | ND |
RASSF9 | p.R166Q | Missense | SNP | 0.214 | 2 | - | ND |
RAX | - | - | - | - | 3 | Gain | ND |
RBBP8 | - | - | - | - | 3 | Gain | ND |
RBFA | - | - | - | - | 3 | Gain | ND |
RBM10 | p.R960W | Missense | SNP | 0.163 | ND | ND | ND |
RBM14 | p.F191Lfs*40 | Frame_Shift_Del | DEL | 0.431 | 2 | - | ND |
RBM17 | - | - | - | - | 3 | Gain | ND |
RBM20 | p.R1057Q | Missense | SNP | 0.683 | 3 | Gain | ND |
RBM27 | p.K816Nfs*5 | Frame_Shift_Del | DEL | 0.473 | 2 | - | ND |
RBM43 | p.I136Sfs*4 | Frame_Shift_Del | DEL | 0.380 | 2 | - | ND |
RBM46 | p.R266W | Missense | SNP | 0.394 | 2 | - | ND |
RBM47 | p.G112S | Missense | SNP | 0.500 | 2 | - | ND |
RBM48 | p.P217H | Missense | SNP | 0.464 | 2 | - | ND |
RBM4B | p.P154Lfs*24 | Frame_Shift_Del | DEL | 0.446 | 2 | - | ND |
RBP3 | - | - | - | - | 3 | Gain | ND |
RBP4 | - | - | - | - | 3 | Gain | ND |
RCAN3 | p.A151S | Missense | SNP | 0.550 | 2 | - | ND |
RCC1 | p.R33H | Missense | SNP | 0.449 | 2 | - | ND |
RCHY1 | - | - | - | - | 1 | Loss | ND |
RDH10 | . | Missense | DEL | 0.513 | 2 | - | ND |
RECQL4 | p.A207Pfs*6 | Frame_Shift_Del | DEL | 0.196 | 2 | - | ND |
REEP3 | - | - | - | - | 3 | Gain | ND |
RELA | p.H487Pfs*4 | Frame_Shift_Ins | INS | 0.241 | 2 | - | ND |
RELCH | - | - | - | - | 3 | Gain | ND |
RERE | p.P940L | Missense | SNP | 0.500 | 2 | - | ND |
RET | - | - | - | - | 3 | Gain | ND |
RETSAT | p.A586T | Missense | SNP | 0.352 | 2 | - | ND |
RGR | - | - | - | - | 3 | Gain | ND |
RGS10 | - | - | - | - | 3 | Gain | ND |
RGS12 | p.P1357L | Missense | SNP | 0.566 | 2 | - | ND |
RHOBTB1 | - | - | - | - | 3 | Gain | ND |
RHOXF1 | p.D174Tfs*22 | Frame_Shift_Del | DEL | 0.403 | ND | ND | ND |
RINT1 | p.P247Lfs*8 | Frame_Shift_Del | DEL | 0.488 | 2 | - | ND |
RIOK3 | - | - | - | - | 3 | Gain | ND |
RIPK4 | p.A147T | Missense | SNP | 0.444 | 2 | - | ND |
RIT2 | - | - | - | - | 3 | Gain | ND |
RLF | p.R721* | Nonsense | SNP | 0.439 | 2 | - | ND |
RMC1 | - | - | - | - | 3 | Gain | ND |
RNF113B | p.G104V | Missense | SNP | 0.518 | 2 | - | ND |
RNF121 | p.R194W | Missense | SNP | 0.448 | 2 | - | ND |
RNF125 | - | - | - | - | 3 | Gain | ND |
RNF128 | p.R6M | Missense | SNP | 0.472 | ND | ND | ND |
RNF138 | - | - | - | - | 3 | Gain | ND |
RNF152 | - | - | - | - | 3 | Gain | ND |
RNF165 | - | - | - | - | 3 | Gain | ND |
RNF20 | p.R244H | Missense | SNP | 0.172 | 2 | - | ND |
RNLS | - | - | - | - | 3 | Gain | ND |
RNMT | - | - | - | - | 3 | Gain | ND |
ROBO2 | p.L601P | Missense | SNP | 0.629 | 2 | - | ND |
ROCK1 | p.R349Q | Missense | SNP | 0.181 | 3 | Gain | ND |
RORC | p.R282T | Missense | SNP | 0.309 | 2 | - | ND |
ROS1 | p.V2276A p.G1915R | Missense Missense | SNP SNP | 0.511 0.514 | 2 | - | ND |
RP11-310K10.1 | p.A353T | Missense | SNP | 0.537 | ND | ND | ND |
RPEL1 | - | - | - | - | 3 | Gain | ND |
RPL17 | - | - | - | - | 3 | Gain | ND |
RPL17-C18orf32 | - | - | - | - | 3 | Gain | ND |
RPL22 | p.K15Rfs*5 | Frame_Shift_Del | DEL | 0.373 | 2 | - | ND |
RPL3L | p.A75V | Missense | SNP | 0.646 | 2 | - | ND |
RPL7A | p.K11del | In_Frame_Del | DEL | 0.484 | 2 | - | ND |
RPP30 | - | - | - | - | 3 | Gain | ND |
RPP38 | - | - | - | - | 3 | Gain | ND |
RPRD1A | - | - | - | - | 3 | Gain | ND |
RPS24 | - | - | - | - | 3 | Gain | ND |
RPTN | - | - | - | - | 3 | Gain | ND |
RPUSD4 | p.R235W | Missense | SNP | 0.248 | 2 | - | ND |
RREB1 | p.S600N | Missense | SNP | 0.188 | 2 | - | ND |
RRP12 | - | - | - | - | 3 | Gain | ND |
RSPO1 | p.R229M | Missense | SNP | 0.324 | 2 | - | ND |
RSU1 | - | - | - | - | 3 | Gain | ND |
RTCA | p.T334M | Missense | SNP | 0.533 | 2 | - | ND |
RTF1 | p.R333* | Nonsense | SNP | 0.416 | 2 | - | ND |
RTKN2 | - | - | - | - | 3 | Gain | ND |
RTTN | - | - | - | - | 3 | Gain | ND |
RUFY2 | - | - | - | - | 3 | Gain | ND |
SACS | p.K1717Nfs*8 | Frame_Shift_Del | DEL | 0.382 | 2 | - | ND |
SALL3 | p.T658M | Missense | SNP | 0.631 | 3 | Gain | ND |
SAMD8 | - | - | - | - | 3 | Gain | ND |
SAR1A | - | - | - | - | 3 | Gain | ND |
SATB1 | p.G276E | Missense | SNP | 0.193 | 2 | - | ND |
SCAF1 | p.T1181Pfs*28 | Frame_Shift_Del | DEL | 0.434 | 2 | - | ND |
SCARB2 | - | - | - | - | 1 | Loss | ND |
SCART1 | - | - | - | - | 3 | Gain | ND |
SCD | - | - | - | - | 3 | Gain | ND |
SCD5 | - | - | - | - | 1 | Loss | ND |
SCN4A | p.W1002* | Nonsense | SNP | 0.257 | 2 | - | ND |
SCN5A | p.S873T | Missense | SNP | 0.322 | 2 | - | ND |
SCN8A | p.W942C | Missense | SNP | 0.505 | 2 | - | ND |
SCRIB | p.F1211L | Missense | SNP | 0.418 | 2 | - | ND |
SCX | - | - | - | - | 1 | Loss | ND |
SDAD1 | - | - | - | - | 1 | Loss | ND |
SDK1 | p.R140C | Missense | SNP | 0.591 | 2 | - | ND |
SEC11C | - | - | - | - | 3 | Gain | ND |
SEC14L5 | p.A349V | Missense | SNP | 0.511 | 2 | - | ND |
SEC16B | p.V643M | Missense | SNP | 0.441 | 2 | - | ND |
SEC23IP | - | - | - | - | 3 | Gain | ND |
SEC24C | - | - | - | - | 3 | Gain | ND |
SEC24D | p.P344H | Missense | SNP | 0.324 | 2 | - | ND |
SEC31A | - | - | - | - | 1 | Loss | ND |
SEC31B | - | - | - | - | 3 | Gain | ND |
SEC61A2 | - | - | - | - | 3 | Gain | ND |
SEH1L | - | - | - | - | 3 | Gain | ND |
SELP | p.V501I | Missense | SNP | 0.393 | 2 | - | ND |
SEMA4G | - | - | - | - | 3 | Gain | ND |
SEMA5B | p.P325L | Missense | SNP | 0.565 | 2 | - | ND |
SEMG1 | p.A241V | Missense | SNP | 0.432 | 2 | - | ND |
SENP6 | p.R1072* | Nonsense | SNP | 0.423 | 2 | - | ND |
SENP7 | p.K545Nfs*11 | Frame_Shift_Del | DEL | 0.655 | 2 | - | ND |
SEPHS1 | - | - | - | - | 3 | Gain | ND |
SEPT11 | - | - | - | - | 1 | Loss | ND |
SERAC1 | p.V8I | Missense | SNP | 0.391 | 2 | - | ND |
SERPINB10 | - | - | - | - | 3 | Gain | ND |
SERPINB11 | - | - | - | - | 3 | Gain | ND |
SERPINB12 | - | - | - | - | 3 | Gain | ND |
SERPINB13 | - | - | - | - | 3 | Gain | ND |
SERPINB2 | - | - | - | - | 3 | Gain | ND |
SERPINB3 | - | - | - | - | 3 | Gain | ND |
SERPINB4 | - | - | - | - | 3 | Gain | ND |
SERPINB5 | - | - | - | - | 3 | Gain | ND |
SERPINB7 | - | - | - | - | 3 | Gain | ND |
SERPINB8 | - | - | - | - | 3 | Gain | ND |
SETBP1 | - | - | - | - | 3 | Gain | ND |
SETD1A | p.G708Vfs*95 | Frame_Shift_Del | DEL | 0.235 | 2 | - | ND |
SETD1B | p.H8Tfs*27 p.S291N | Frame_Shift_Del Missense | DEL SNP | 0.395 0.553 | 2 | - | ND |
SETD5 | p.S1286Lfs*37 | Frame_Shift_Ins | INS | 0.299 | 2 | - | ND |
SEZ6L2 | p.T77M | Missense | SNP | 0.517 | 2 | - | ND |
SFMBT2 | - | - | - | - | 3 | Gain | ND |
SFR1 | - | - | - | - | 3 | Gain | ND |
SFRP5 | - | - | - | - | 3 | Gain | ND |
SFTPA1 | - | - | - | - | 3 | Gain | ND |
SFTPA2 | - | - | - | - | 3 | Gain | ND |
SFTPD | - | - | - | - | 3 | Gain | ND |
SFXN2 | p.D75G | Missense | SNP | 0.318 | 3 | Gain | ND |
SFXN3 | - | - | - | - | 3 | Gain | ND |
SFXN4 | - | - | - | - | 3 | Gain | ND |
SGMS1 | - | - | - | - | 3 | Gain | ND |
SGO1 | p.R522Efs*39 p.M325Cfs*28 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.472 0.498 | 2 | - | ND |
SGPL1 | - | - | - | - | 3 | Gain | ND |
SH2D4B | - | - | - | - | 3 | Gain | ND |
SH3PXD2A | - | - | - | - | 3 | Gain | ND |
SHANK1 | p.T1808Rfs*11 p.X154_splice | Frame_Shift_Del Splice_Site | DEL SNP | 0.177 0.196 | 2 | - | ND |
SHC2 | p.P407Rfs*37 | Frame_Shift_Del | DEL | 0.383 | 2 | - | ND |
SHISA7 | p.G359Afs*178 | Frame_Shift_Del | DEL | 0.569 | 2 | - | ND |
SHLD2 | - | - | - | - | 3 | Gain | ND |
SHOC2 | - | - | - | - | 3 | Gain | ND |
SHROOM2 | p.R753Q | Missense | SNP | 0.502 | ND | ND | ND |
SHROOM3 | p.A1622T | Missense | SNP | 0.333 | 1 | Loss | ND |
SHROOM4 | p.K1314Rfs*23 p.R242C | Frame_Shift_Del Missense | DEL SNP | 0.412 0.528 | ND | ND | ND |
SHTN1 | - | - | - | - | 3 | Gain | ND |
SIGLEC15 | - | - | - | - | 3 | Gain | ND |
SIPA1L3 | p.A460T | Missense | SNP | 0.169 | 2 | - | ND |
SIRT1 | - | - | - | - | 3 | Gain | ND |
SIX5 | p.A625Pfs*31 | Frame_Shift_Del | DEL | 0.521 | 2 | - | ND |
SKA1 | - | - | - | - | 3 | Gain | ND |
SKIDA1 | - | - | - | - | 3 | Gain | ND |
SKOR2 | - | - | - | - | 3 | Gain | ND |
SLA | p.R173H | Missense | SNP | 0.160 | 2 | - | ND |
SLC10A6 | - | - | - | - | 1 | Loss | ND |
SLC14A1 | - | - | - | - | 3 | Gain | ND |
SLC14A2 | - | - | - | - | 3 | Gain | ND |
SLC16A10 | p.I282Ffs*9 | Frame_Shift_Del | DEL | 0.202 | 2 | - | ND |
SLC16A12 | - | - | - | - | 3 | Gain | ND |
SLC16A2 | p.G147R | Missense | SNP | 0.516 | ND | ND | ND |
SLC16A9 | - | - | - | - | 3 | Gain | ND |
SLC18A2 | p.G231V | Missense | SNP | 0.099 | 3 | Gain | ND |
SLC18A3 | - | - | - | - | 3 | Gain | ND |
SLC19A3 | p.R277H | Missense | SNP | 0.412 | 2 | - | ND |
SLC1A7 | p.R11Gfs*27 p.T406I | Frame_Shift_Del Missense | DEL SNP | 0.226 0.445 | 2 | - | ND |
SLC22A16 | p.T87M | Missense | SNP | 0.457 | 2 | - | ND |
SLC22A18 | p.T93M | Missense | SNP | 0.333 | 2 | - | ND |
SLC22A3 | p.R407H | Missense | SNP | 0.281 | 2 | - | ND |
SLC22A6 | p.R192W | Missense | SNP | 0.551 | 2 | - | ND |
SLC25A16 | - | - | - | - | 3 | Gain | ND |
SLC25A17 | p.L30Wfs*42 | Frame_Shift_Del | DEL | 0.158 | 2 | - | ND |
SLC25A23 | p.R332Vfs*28 | Frame_Shift_Del | DEL | 0.178 | 2 | - | ND |
SLC25A24 | p.G192R | Missense | SNP | 0.488 | 2 | - | ND |
SLC25A28 | - | - | - | - | 3 | Gain | ND |
SLC25A52 | - | - | - | - | 3 | Gain | ND |
SLC26A1 | p.R365H | Missense | SNP | 0.310 | 2 | - | ND |
SLC29A3 | - | - | - | - | 3 | Gain | ND |
SLC30A8 | p.S183R | Missense | SNP | 0.585 | 2 | - | ND |
SLC35E3 | - | - | - | - | 3 | Gain | ND |
SLC35G1 | - | - | - | - | 3 | Gain | ND |
SLC35G4 | - | - | - | - | 3 | Gain | ND |
SLC39A12 | - | - | - | - | 3 | Gain | ND |
SLC39A13 | p.A279T | Missense | SNP | 0.500 | 2 | - | ND |
SLC39A6 | - | - | - | - | 3 | Gain | ND |
SLC44A4 | p.V238Wfs*5 | Frame_Shift_Del | DEL | 0.398 | 2 | - | ND |
SLC45A1 | p.P494L | Missense | SNP | 0.337 | 2 | - | ND |
SLC5A11 | p.S453P | Missense | SNP | 0.211 | 2 | - | ND |
SLC5A6 | p.R142* | Nonsense | SNP | 0.444 | 2 | - | ND |
SLC6A17 | p.G110E | Missense | SNP | 0.182 | 2 | - | ND |
SLC7A10 | p.T158Pfs*12 | Frame_Shift_Del | DEL | 0.483 | 2 | - | ND |
SLC9C1 | p.F10Sfs*11 | Frame_Shift_Del | DEL | 0.317 | 2 | - | ND |
SLCO4A1 | p.T297M | Missense | SNP | 0.475 | 2 | - | ND |
SLF1 | p.R126K | Missense | SNP | 0.253 | 2 | - | ND |
SLF2 | - | - | - | - | 3 | Gain | ND |
SLIT1 | p.R1481H | Missense | SNP | 0.179 | 3 | Gain | ND |
SLIT2 | p.N929Mfs*46 | Frame_Shift_Del | DEL | 0.167 | 2 | - | ND |
SLITRK2 | p.Q61Pfs*35 | Frame_Shift_Ins | INS | 0.141 | ND | ND | ND |
SLITRK5 | p.N762Tfs*12 | Frame_Shift_Del | DEL | 0.388 | 2 | - | ND |
SLK | - | - | - | - | 3 | Gain | ND |
SMAD2 | - | - | - | - | 3 | Gain | ND |
SMAD4 | p.G336R | Missense | SNP | 0.158 | 3 | Gain | ND |
SMAD7 | p.P209Lfs*115 | Frame_Shift_Del | DEL | 0.111 | 3 | Gain | ND |
SMAP1 | p.E169Kfs*51 | Frame_Shift_Del | DEL | 0.091 | 2 | - | ND |
SMARCA1 | p.K57del | In_Frame_Del | DEL | 0.352 | ND | ND | ND |
SMARCA4 | p.G271Rfs*16 p.G911D p.R1157Q | Frame_Shift_Ins Missense Missense | INS SNP SNP | 0.279 0.449 0.636 | 2 | - | ND |
SMARCD1 | p.R503* | Nonsense | SNP | 0.500 | 2 | - | ND |
SMC2 | p.K368E | Missense | SNP | 0.404 | 2 | - | ND |
SMC3 | - | - | - | - | 3 | Gain | ND |
SMCHD1 | - | - | - | - | 3 | Gain | ND |
SMIM21 | - | - | - | - | 3 | Gain | ND |
SMNDC1 | - | - | - | - | 3 | Gain | ND |
SMPD4 | - | - | - | - | 1 | Loss | ND |
SMPX | p.R34Qfs*8 | Frame_Shift_Ins | INS | 0.297 | ND | ND | ND |
SMYD4 | p.S737G | Missense | SNP | 0.395 | 2 | - | ND |
SNCA | - | - | - | - | 1 | Loss | ND |
SNCG | - | - | - | - | 3 | Gain | ND |
SND1 | p.R539H | Missense | SNP | 0.463 | 2 | - | ND |
SNED1 | p.P701Rfs*4 p.A371V | Frame_Shift_Del Missense | DEL SNP | 0.536 0.133 | 2 | - | ND |
SNRPB | p.R25W | Missense | SNP | 0.421 | 2 | - | ND |
SNRPD1 | - | - | - | - | 3 | Gain | ND |
SNW1 | p.Q15H | Missense | SNP | 0.722 | 2 | - | ND |
SOCS6 | - | - | - | - | 3 | Gain | ND |
SORBS1 | - | - | - | - | 3 | Gain | ND |
SORCS1 | - | - | - | - | 3 | Gain | ND |
SORCS3 | - | - | - | - | 3 | Gain | ND |
SOS1 | p.K1030Nfs*6 | Frame_Shift_Del | DEL | 0.455 | 2 | - | ND |
SOWAHB | - | - | - | - | 1 | Loss | ND |
SPAG5 | p.R259C | Missense | SNP | 0.429 | 2 | - | ND |
SPAG6 | - | - | - | - | 3 | Gain | ND |
SPARCL1 | - | - | - | - | 1 | Loss | ND |
SPATA13 | p.R896H | Missense | SNP | 0.481 | 2 | - | ND |
SPATA22 | p.N194Tfs*30 | Frame_Shift_Del | DEL | 0.517 | 2 | - | ND |
SPATA31A1 | p.S1009Y | Missense | SNP | 0.393 | 2 | - | ND |
SPATA31D4 | p.N780Kfs*6 | Frame_Shift_Ins | INS | 0.084 | 2 | - | ND |
SPEN | p.V1907I | Missense | SNP | 0.533 | 2 | - | ND |
SPHK1 | p.A146V | Missense | SNP | 0.244 | 2 | - | ND |
SPIRE1 | - | - | - | - | 3 | Gain | ND |
SPNS2 | p.G79Afs*91 | Frame_Shift_Del | DEL | 0.485 | 2 | - | ND |
SPOCK2 | - | - | - | - | 3 | Gain | ND |
SPON1 | p.R758C | Missense | SNP | 0.333 | 2 | - | ND |
SPON2 | p.T209M | Missense | SNP | 0.340 | 2 | - | ND |
SPP1 | - | - | - | - | 1 | Loss | ND |
SPRN | - | - | - | - | 3 | Gain | ND |
SPTAN1 | p.R474W | Missense | SNP | 0.441 | 2 | - | ND |
SPTBN4 | p.C355Y | Missense | SNP | 0.563 | 2 | - | ND |
SREBF1 | p.A1026T | Missense | SNP | 0.613 | 2 | - | ND |
SRGAP3 | p.R585Q | Missense | SNP | 0.605 | 2 | - | ND |
SRGN | - | - | - | - | 3 | Gain | ND |
SRP68 | p.T302M | Missense | SNP | 0.244 | 2 | - | ND |
SRPRA | p.K170Rfs*33 | Frame_Shift_Del | DEL | 0.435 | 2 | - | ND |
SRRT | p.G105Wfs*15 | Frame_Shift_Ins | INS | 0.113 | 2 | - | ND |
SS18 | - | - | - | - | 3 | Gain | ND |
SSRP1 | p.R463W | Missense | SNP | 0.451 | 2 | - | ND |
SSTR1 | p.R336H | Missense | SNP | 0.217 | 2 | - | ND |
SSTR3 | p.R161Afs*28 | Frame_Shift_Del | DEL | 0.312 | 2 | - | ND |
SSTR4 | p.R252C | Missense | SNP | 0.488 | 2 | - | ND |
SSU72 | p.D50N | Missense | SNP | 0.450 | 2 | - | ND |
ST8SIA3 | - | - | - | - | 3 | Gain | ND |
ST8SIA5 | - | - | - | - | 3 | Gain | ND |
ST8SIA6 | p.A252Pfs*53 | Frame_Shift_Del | DEL | 0.090 | 3 | Gain | ND |
STAB1 | p.E1712Rfs*8 | Frame_Shift_Ins | INS | 0.247 | 2 | - | ND |
STAG2 | p.R1195C | Missense | SNP | 0.224 | ND | ND | ND |
STAM | - | - | - | - | 3 | Gain | ND |
STAMBPL1 | - | - | - | - | 3 | Gain | ND |
STARD6 | - | - | - | - | 3 | Gain | ND |
STAT5B | p.R430H | Missense | SNP | 0.406 | 2 | - | ND |
STBD1 | - | - | - | - | 1 | Loss | ND |
STK32C | - | - | - | - | 3 | Gain | ND |
STK38 | p.F382Lfs*70 | Frame_Shift_Del | DEL | 0.417 | 2 | - | ND |
STMN4 | p.R205Q | Missense | SNP | 0.559 | 2 | - | ND |
STN1 | - | - | - | - | 3 | Gain | ND |
STOX1 | - | - | - | - | 3 | Gain | ND |
STRBP | p.R289* | Nonsense | SNP | 0.447 | 2 | - | ND |
STRN | p.G345V | Missense | SNP | 0.216 | 2 | - | ND |
SUFU | p.R224Q | Missense | SNP | 0.213 | 3 | Gain | ND |
SULT6B1 | p.K48Sfs*21 | Frame_Shift_Del | DEL | 0.244 | 2 | - | ND |
SUPT5H | p.Y564H p.R700Q | Missense Missense | SNP SNP | 0.541 0.573 | 2 | - | ND |
SUPV3L1 | - | - | - | - | 3 | Gain | ND |
SURF2 | p.R28M | Missense | SNP | 0.447 | 2 | - | ND |
SURF6 | p.R216H | Missense | SNP | 0.571 | 2 | - | ND |
SUV39H2 | - | - | - | - | 3 | Gain | ND |
SVIL | - | - | - | - | 3 | Gain | ND |
SYCE1 | - | - | - | - | 3 | Gain | ND |
SYNGAP1 | p.P798L | Missense | SNP | 0.230 | 2 | - | ND |
SYNPO | p.S750N | Missense | SNP | 0.400 | 2 | - | ND |
SYNPO2L | - | - | - | - | 3 | Gain | ND |
SYT15 | - | - | - | - | 3 | Gain | ND |
SYT4 | - | - | - | - | 3 | Gain | ND |
TACC1 | p.K261Qfs*9 | Frame_Shift_Ins | INS | 0.347 | 2 | - | ND |
TACC2 | - | - | - | - | 3 | Gain | ND |
TACR2 | - | - | - | - | 3 | Gain | ND |
TAF3 | - | - | - | - | 3 | Gain | ND |
TAF4 | p.X588_splice | Splice_Site | SNP | 0.536 | 2 | - | ND |
TAF4B | - | - | - | - | 3 | Gain | ND |
TAF5 | - | - | - | - | 3 | Gain | ND |
TAOK3 | p.A784V | Missense | SNP | 0.515 | 2 | - | ND |
TAS1R1 | p.L75I | Missense | SNP | 0.163 | 2 | - | ND |
TAS1R2 | p.R226H | Missense | SNP | 0.500 | 2 | - | ND |
TBATA | - | - | - | - | 3 | Gain | ND |
TBC1D12 | - | - | - | - | 3 | Gain | ND |
TCEAL4 | p.A16V | Missense | SNP | 0.440 | ND | ND | ND |
TCERG1 | p.A241_Q242del | In_Frame_Del | DEL | 0.196 | 2 | - | ND |
TCERG1L | - | - | - | - | 3 | Gain | ND |
TCF3 | p.R609W | Missense | SNP | 0.526 | 2 | - | ND |
TCF4 | - | - | - | - | 3 | Gain | ND |
TCF7L2 | p.K466E | Missense | SNP | 0.115 | 3 | Gain | ND |
TCHH | - | - | - | - | 3 | Gain | ND |
TCP11L2 | p.L308P | Missense | SNP | 0.567 | 2 | - | ND |
TCTN3 | - | - | - | - | 3 | Gain | ND |
TDRD1 | - | - | - | - | 3 | Gain | ND |
TEAD2 | p.H299Mfs*12 | Frame_Shift_Del | DEL | 0.610 | 2 | - | ND |
TECTB | - | - | - | - | 3 | Gain | ND |
TENM3 | p.R1195W | Missense | SNP | 0.168 | 2 | - | ND |
TESMIN | p.G86Afs*70 | Frame_Shift_Del | DEL | 0.173 | 2 | - | ND |
TET1 | p.R222H | Missense | SNP | 0.089 | 3 | Gain | ND |
TEX264 | p.R203W | Missense | SNP | 0.525 | 2 | - | ND |
TEX36 | - | - | - | - | 3 | Gain | ND |
TFAM | p.E148Sfs*2 | Frame_Shift_Del | DEL | 0.659 | 3 | Gain | ND |
TFCP2 | p.R257Q | Missense | SNP | 0.471 | 2 | - | ND |
TGIF1 | - | - | - | - | 3 | Gain | ND |
TGM1 | p.R46C | Missense | SNP | 0.536 | 2 | - | ND |
TGM7 | p.R498M | Missense | SNP | 0.236 | 2 | - | ND |
THAP5 | p.K99Nfs*25 | Frame_Shift_Del | DEL | 0.172 | 2 | - | ND |
THAP6 | - | - | - | - | 1 | Loss | ND |
THAP8 | p.L116Cfs*15 | Frame_Shift_Del | DEL | 0.515 | 2 | - | ND |
THAP9 | - | - | - | - | 1 | Loss | ND |
THBS2 | p.R812* | Nonsense | SNP | 0.156 | 2 | - | ND |
THNSL1 | - | - | - | - | 3 | Gain | ND |
THOC1 | - | - | - | - | 3 | Gain | ND |
THSD7B | p.G987C | Missense | SNP | 0.452 | 2 | - | ND |
TIAL1 | - | - | - | - | 3 | Gain | ND |
TICAM1 | p.A568V | Missense | SNP | 0.290 | 2 | - | ND |
TICRR | p.R1086* | Nonsense | SNP | 0.492 | 2 | - | ND |
TIE1 | p.R603H | Missense | SNP | 0.500 | 2 | - | ND |
TIFAB | p.E143D | Missense | SNP | 0.562 | 2 | - | ND |
TIGD2 | - | - | - | - | 1 | Loss | ND |
TIMM21 | - | - | - | - | 3 | Gain | ND |
TIMM23 | - | - | - | - | 3 | Gain | ND |
TIMM23B | - | - | - | - | 3 | Gain | ND |
TKTL2 | p.R24Q | Missense | SNP | 0.477 | 2 | - | ND |
TLE2 | p.S250Qfs*30 | Frame_Shift_Ins | INS | 0.303 | 2 | - | ND |
TLL2 | - | - | - | - | 3 | Gain | ND |
TLN2 | p.V1160M p.E2318K | Missense Missense | SNP SNP | 0.524 0.530 | 2 | - | ND |
TLX1 | - | - | - | - | 3 | Gain | ND |
TM6SF2 | p.A201T p.A107V | Missense Missense | SNP SNP | 0.575 0.547 | 2 | - | ND |
TM9SF3 | - | - | - | - | 3 | Gain | ND |
TMED3 | p.V153I | Missense | SNP | 0.533 | 2 | - | ND |
TMEM131 | p.D1577G | Missense | SNP | 0.523 | 2 | - | ND |
TMEM150C | - | - | - | - | 1 | Loss | ND |
TMEM155 | p.S121Ifs*44 | Frame_Shift_Del | DEL | 0.390 | 2 | - | ND |
TMEM168 | p.R258C | Missense | SNP | 0.375 | 2 | - | ND |
TMEM169 | p.T164M | Missense | SNP | 0.450 | 2 | - | ND |
TMEM181 | p.F186L p.G452R | Missense Missense | SNP SNP | 0.614 0.119 | 2 | - | ND |
TMEM200C | p.P21Qfs*22 | Frame_Shift_Del | DEL | 0.304 | 3 | Gain | ND |
TMEM231 | p.S275N | Missense | SNP | 0.567 | 2 | - | ND |
TMEM236 | - | - | - | - | 3 | Gain | ND |
TMEM239 | p.G136S | Missense | SNP | 0.423 | 2 | - | ND |
TMEM241 | - | - | - | - | 3 | Gain | ND |
TMEM249 | p.A213T | Missense | SNP | 0.206 | 2 | - | ND |
TMEM254 | - | - | - | - | 3 | Gain | ND |
TMEM26 | - | - | - | - | 3 | Gain | ND |
TMEM273 | - | - | - | - | 3 | Gain | ND |
TMEM72 | - | - | - | - | 3 | Gain | ND |
TMEM92 | p.Y120Tfs*4 | Frame_Shift_Del | DEL | 0.526 | 2 | - | ND |
TMTC2 | p.Q829Tfs*7 | Frame_Shift_Ins | INS | 0.299 | 2 | - | ND |
TMX3 | - | - | - | - | 3 | Gain | ND |
TNFAIP3 | p.P457Lfs*20 | Frame_Shift_Del | DEL | 0.230 | 2 | - | ND |
TNFRSF11A | p.P432L | Missense | SNP | 0.680 | 3 | Gain | ND |
TNKS2 | - | - | - | - | 3 | Gain | ND |
TNRC18 | p.A832P | Missense | SNP | 0.615 | 2 | - | ND |
TNRC6C | p.N615Mfs*45 | Frame_Shift_Del | DEL | 0.489 | 2 | - | ND |
TNS1 | p.R1198Q | Missense | SNP | 0.510 | 2 | - | ND |
TOP2A | p.T1205Hfs*19 | Frame_Shift_Del | DEL | 0.164 | 2 | - | ND |
TPGS2 | - | - | - | - | 3 | Gain | ND |
TRAF2 | p.R486W | Missense | SNP | 0.486 | 2 | - | ND |
TRAF3IP2 | p.P556Lfs*38 | Frame_Shift_Del | DEL | 0.220 | 2 | - | ND |
TRAPPC8 | - | - | - | - | 3 | Gain | ND |
TRDMT1 | - | - | - | - | 3 | Gain | ND |
TRDN | p.A435V | Missense | SNP | 0.108 | 2 | - | ND |
TRIM10 | p.R429W | Missense | SNP | 0.131 | 2 | - | ND |
TRIM28 | p.R470W | Missense | SNP | 0.467 | 2 | - | ND |
TRIM3 | p.S74L | Missense | SNP | 0.500 | 2 | - | ND |
TRIM36 | p.R44H | Missense | SNP | 0.546 | 2 | - | ND |
TRIM73 | p.R52C | Missense | SNP | 0.132 | 2 | - | ND |
TRIM8 | - | - | - | - | 3 | Gain | ND |
TRIO | p.R558C p.L1071P | Missense Missense | SNP SNP | 0.508 0.553 | 2 | - | ND |
TRIOBP | p.R2039W | Missense | SNP | 0.485 | 2 | - | ND |
TRIP12 | p.X378_splice | Splice_Site | SNP | 0.404 | 2 | - | ND |
TRMT5 | p.R432W | Missense | SNP | 0.484 | 2 | - | ND |
TRPM2 | p.A1278T | Missense | SNP | 0.462 | 2 | - | ND |
TRPM3 | p.T944M | Missense | SNP | 0.491 | 2 | - | ND |
TRUB1 | - | - | - | - | 3 | Gain | ND |
TSHZ1 | - | - | - | - | 3 | Gain | ND |
TSHZ3 | p.A211Pfs*19 | Frame_Shift_Del | DEL | 0.215 | 2 | - | ND |
TSPAN14 | - | - | - | - | 3 | Gain | ND |
TSPAN15 | - | - | - | - | 3 | Gain | ND |
TSPAN5 | p.A192T | Missense | SNP | 0.304 | 2 | - | ND |
TSPEAR | p.R67Afs*3 | Frame_Shift_Del | DEL | 0.456 | 2 | - | ND |
TSR3 | p.A294Lfs*28 | Frame_Shift_Del | DEL | 0.442 | 2 | - | ND |
TTC14 | p.R459C | Missense | SNP | 0.647 | 2 | - | ND |
TTC16 | p.R86H | Missense | SNP | 0.420 | 2 | - | ND |
TTC30A | p.M601Dfs*5 | Frame_Shift_Del | DEL | 0.452 | 2 | - | ND |
TTC37 | p.Y827* | Nonsense | SNP | 0.435 | 2 | - | ND |
TTC39C | p.A444V | Missense | SNP | 0.680 | 3 | Gain | ND |
TTC6 | p.L540Sfs*19 p.R923H | Frame_Shift_Del Missense | DEL SNP | 0.512 0.379 | 2 | - | ND |
TTC7A | p.T733M | Missense | SNP | 0.542 | 2 | - | ND |
TTN | p.P13097Lfs*12 p.K9807Rfs*5 p.R30448C p.R13727H p.G5061S | Frame_Shift_Del Frame_Shift_Del Missense Missense Missense | DEL DEL SNP SNP SNP | 0.409 0.700 0.183 0.457 0.428 | 2 | - | ND |
TTR | - | - | - | - | 3 | Gain | ND |
TUBAL3 | - | - | - | - | 3 | Gain | ND |
TUBB6 | - | - | - | - | 3 | Gain | ND |
TUBB8 | - | - | - | - | 3 | Gain | ND |
TUBGCP2 | - | - | - | - | 3 | Gain | ND |
TUBGCP6 | p.P1371H p.R793C | Missense Missense | SNP SNP | 0.431 0.569 | 2 | - | ND |
TVP23A | p.F140Lfs*7 | Frame_Shift_Del | DEL | 0.496 | 2 | - | ND |
TWNK | - | - | - | - | 3 | Gain | ND |
TWSG1 | - | - | - | - | 3 | Gain | ND |
TXNDC2 | - | - | - | - | 3 | Gain | ND |
TXNL1 | - | - | - | - | 3 | Gain | ND |
TXNL4A | p.G128S | Missense | SNP | 0.350 | 3 | Gain | ND |
TYMS | - | - | - | - | 3 | Gain | ND |
TYSND1 | - | - | - | - | 3 | Gain | ND |
TYW1 | p.W154* | Nonsense | SNP | 0.491 | 2 | - | ND |
UBA2 | p.A380T | Missense | SNP | 0.450 | 2 | - | ND |
UBE2D1 | - | - | - | - | 3 | Gain | ND |
UBR4 | p.R142* | Nonsense | SNP | 0.487 | 2 | - | ND |
UBTD1 | - | - | - | - | 3 | Gain | ND |
UCMA | - | - | - | - | 3 | Gain | ND |
UCN3 | - | - | - | - | 3 | Gain | ND |
UGT1A8 | p.P264T | Missense | SNP | 0.532 | 2 | - | ND |
UGT2A1 | - | - | - | - | 1 | Loss | ND |
UGT2A2 | - | - | - | - | 1 | Loss | ND |
UGT2A3 | - | - | - | - | 1 | Loss | ND |
UGT2B10 | - | - | - | - | 1 | Loss | ND |
UGT2B11 | - | - | - | - | 1 | Loss | ND |
UGT2B15 | - | - | - | - | 1 | Loss | ND |
UGT2B17 | - | - | - | - | 1 | Loss | ND |
UGT2B28 | - | - | - | - | 1 | Loss | ND |
UGT2B4 | - | - | - | - | 1 | Loss | ND |
UGT2B7 | - | - | - | - | 1 | Loss | ND |
ULK1 | p.V566I | Missense | SNP | 0.237 | 2 | - | ND |
UNC13A | p.R1566W p.R39W | Missense Missense | SNP SNP | 0.390 0.527 | 2 | - | ND |
UNC5B | - | - | - | - | 3 | Gain | ND |
UNK | p.R123H | Missense | SNP | 0.481 | 2 | - | ND |
UPF2 | - | - | - | - | 3 | Gain | ND |
UPF3A | p.E267Rfs*13 | Frame_Shift_Del | DEL | 0.455 | 2 | - | ND |
UROS | p.F196Lfs*44 | Frame_Shift_Del | DEL | 0.149 | 3 | Gain | ND |
USH2A | p.R310Q | Missense | SNP | 0.593 | 2 | - | ND |
USO1 | - | - | - | - | 1 | Loss | ND |
USP1 | p.N662Mfs*2 | Frame_Shift_Del | DEL | 0.235 | 2 | - | ND |
USP11 | p.L338F | Missense | SNP | 0.167 | ND | ND | ND |
USP14 | - | - | - | - | 3 | Gain | ND |
USP2 | p.X413_splice | Splice_Site | INS | 0.279 | 2 | - | ND |
USP40 | p.Q1160Tfs*20 | Frame_Shift_Ins | INS | 0.227 | 2 | - | ND |
USP54 | - | - | - | - | 3 | Gain | ND |
USP6NL | - | - | - | - | 3 | Gain | ND |
USP9X | p.E2102K | Missense | SNP | 0.493 | ND | ND | ND |
UTF1 | - | - | - | - | 3 | Gain | ND |
UTP15 | p.L425* | Frame_Shift_Del | DEL | 0.497 | 2 | - | ND |
VAPA | - | - | - | - | 3 | Gain | ND |
VAX1 | - | - | - | - | 3 | Gain | ND |
VCAN | p.W1619* | Nonsense | SNP | 0.483 | 2 | - | ND |
VCL | p.R230C | Missense | SNP | 0.171 | 3 | Gain | ND |
VCP | p.N616Cfs*11 | Frame_Shift_Del | DEL | 0.419 | 2 | - | ND |
VDAC2 | - | - | - | - | 3 | Gain | ND |
VENTX | - | - | - | - | 3 | Gain | ND |
VEZF1 | p.V470I | Missense | SNP | 0.421 | 2 | - | ND |
VIM | - | - | - | - | 3 | Gain | ND |
VN1R2 | p.P360S | Missense | SNP | 0.244 | 2 | - | ND |
VPS13A | p.I1709Nfs*6 p.R161H | Frame_Shift_Ins Missense | INS SNP | 0.276 0.507 | 2 | - | ND |
VPS16 | p.R321H | Missense | SNP | 0.580 | 2 | - | ND |
VPS18 | p.A889V | Missense | SNP | 0.536 | 2 | - | ND |
VPS26A | - | - | - | - | 3 | Gain | ND |
VPS35 | p.S179Y | Missense | SNP | 0.593 | 2 | - | ND |
VPS4B | - | - | - | - | 3 | Gain | ND |
VPS51 | p.V609M | Missense | SNP | 0.542 | 2 | - | ND |
VPS8 | p.Q877H | Missense | SNP | 0.571 | 2 | - | ND |
VSIG10L | p.V263Ffs*72 | Frame_Shift_Del | DEL | 0.236 | 2 | - | ND |
VSIR | - | - | - | - | 3 | Gain | ND |
VSTM4 | - | - | - | - | 3 | Gain | ND |
VSX2 | p.A52V | Missense | SNP | 0.514 | 2 | - | ND |
VTI1A | - | - | - | - | 3 | Gain | ND |
VWA2 | p.R591W | Missense | SNP | 0.144 | 3 | Gain | ND |
WAC | - | - | - | - | 3 | Gain | ND |
WAPL | - | - | - | - | 3 | Gain | ND |
WASHC2A | - | - | - | - | 3 | Gain | ND |
WASHC2C | - | - | - | - | 3 | Gain | ND |
WBP11 | p.G521Wfs*28 | Frame_Shift_Ins | INS | 0.276 | 2 | - | ND |
WBP1L | - | - | - | - | 3 | Gain | ND |
WDFY3 | p.L1060Cfs*41 | Frame_Shift_Del | DEL | 0.360 | 1 | Loss | ND |
WDFY4 | - | - | - | - | 3 | Gain | ND |
WDR11 | - | - | - | - | 3 | Gain | ND |
WDR37 | - | - | - | - | 3 | Gain | ND |
WDR47 | p.V693I | Missense | SNP | 0.429 | 2 | - | ND |
WDR7 | - | - | - | - | 3 | Gain | ND |
WDR78 | p.K30Rfs*28 | Frame_Shift_Del | DEL | 0.245 | 2 | - | ND |
WDR93 | p.P446T | Missense | SNP | 0.320 | 2 | - | ND |
WDTC1 | p.E290Tfs*6 p.V621M | Frame_Shift_Del Missense | DEL SNP | 0.281 0.563 | 2 | - | ND |
WFDC3 | p.R66* | Nonsense | SNP | 0.476 | 2 | - | ND |
WISP1 | p.R161C | Missense | SNP | 0.430 | 2 | - | ND |
WISP3 | p.K226Nfs*24 | Frame_Shift_Del | DEL | 0.507 | 2 | - | ND |
WIZ | p.R234W | Missense | SNP | 0.456 | 2 | - | ND |
WNK1 | p.P743T | Missense | SNP | 0.442 | 2 | - | ND |
WNK3 | p.S649P p.A403S | Missense Missense | SNP SNP | 0.191 0.474 | ND | ND | ND |
WNT2 | p.S95N | Missense | SNP | 0.257 | 2 | - | ND |
WNT4 | p.K107Q | Missense | SNP | 0.433 | 2 | - | ND |
WNT6 | p.D289N | Missense | SNP | 0.557 | 2 | - | ND |
WNT8B | - | - | - | - | 3 | Gain | ND |
WSCD1 | p.R76Q | Missense | SNP | 0.507 | 2 | - | ND |
WWC2 | p.M206Cfs*17 p.R380Q | Frame_Shift_Del Missense | DEL SNP | 0.396 0.513 | 2 | - | ND |
XIRP2 | p.N1589T | Missense | SNP | 0.504 | 2 | - | ND |
XPNPEP1 | - | - | - | - | 3 | Gain | ND |
YES1 | - | - | - | - | 3 | Gain | ND |
YLPM1 | p.G1063D | Missense | SNP | 0.488 | 2 | - | ND |
YME1L1 | - | - | - | - | 3 | Gain | ND |
ZADH2 | - | - | - | - | 3 | Gain | ND |
ZBTB1 | p.K524Sfs*25 | Frame_Shift_Del | DEL | 0.444 | 2 | - | ND |
ZBTB14 | p.R30H | Missense | SNP | 0.243 | 3 | Gain | ND |
ZBTB38 | p.R917C | Missense | SNP | 0.581 | 2 | - | ND |
ZBTB4 | p.A958V | Missense | SNP | 0.168 | 2 | - | ND |
ZBTB46 | p.G517D p.R463C | Missense Missense | SNP SNP | 0.200 0.153 | 2 | - | ND |
ZBTB7A | p.A559V | Missense | SNP | 0.617 | 2 | - | ND |
ZBTB7C | - | - | - | - | 3 | Gain | ND |
ZC3H12C | p.A786T | Missense | SNP | 0.256 | 2 | - | ND |
ZCCHC2 | - | - | - | - | 3 | Gain | ND |
ZCCHC24 | - | - | - | - | 3 | Gain | ND |
ZCRB1 | p.K140Rfs*13 | Frame_Shift_Del | DEL | 0.415 | 2 | - | ND |
ZDHHC16 | - | - | - | - | 3 | Gain | ND |
ZDHHC18 | p.P367L | Missense | SNP | 0.468 | 2 | - | ND |
ZDHHC5 | p.L657S | Missense | SNP | 0.507 | 2 | - | ND |
ZDHHC6 | - | - | - | - | 3 | Gain | ND |
ZEB1 | - | - | - | - | 3 | Gain | ND |
ZFAND4 | - | - | - | - | 3 | Gain | ND |
ZFHX3 | p.A3449V p.G17S | Missense Missense | SNP SNP | 0.249 0.406 | 2 | - | ND |
ZFHX4 | p.L411Cfs*4 p.P2057Hfs*26 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.517 0.273 | 2 | - | ND |
ZFP36L2 | p.A229Rfs*245 p.G144Afs*43 | Frame_Shift_Ins Frame_Shift_Del | INS DEL | 0.270 0.465 | 2 | - | ND |
ZFYVE27 | - | - | - | - | 3 | Gain | ND |
ZKSCAN2 | p.A166V | Missense | SNP | 0.577 | 2 | - | ND |
ZMIZ1 | - | - | - | - | 3 | Gain | ND |
ZMYM3 | p.L85Afs*4 | Frame_Shift_Ins | INS | 0.336 | ND | ND | ND |
ZMYM6 | p.N724Mfs*15 | Frame_Shift_Del | DEL | 0.423 | 2 | - | ND |
ZMYND11 | - | - | - | - | 3 | Gain | ND |
ZMYND8 | p.K655Sfs*14 | Frame_Shift_Del | DEL | 0.528 | 2 | - | ND |
ZNF134 | p.E208K | Missense | SNP | 0.362 | 2 | - | ND |
ZNF14 | p.R547* | Nonsense | SNP | 0.229 | 2 | - | ND |
ZNF157 | p.K53N | Missense | SNP | 0.459 | ND | ND | ND |
ZNF169 | p.K260M | Missense | SNP | 0.188 | 2 | - | ND |
ZNF205 | p.A493V | Missense | SNP | 0.515 | 2 | - | ND |
ZNF215 | p.R396* | Nonsense | SNP | 0.268 | 2 | - | ND |
ZNF22 | - | - | - | - | 3 | Gain | ND |
ZNF236 | - | - | - | - | 3 | Gain | ND |
ZNF239 | - | - | - | - | 3 | Gain | ND |
ZNF24 | - | - | - | - | 3 | Gain | ND |
ZNF248 | - | - | - | - | 3 | Gain | ND |
ZNF25 | - | - | - | - | 3 | Gain | ND |
ZNF3 | p.T99Rfs*4 | Frame_Shift_Del | DEL | 0.463 | 2 | - | ND |
ZNF32 | - | - | - | - | 3 | Gain | ND |
ZNF33A | - | - | - | - | 3 | Gain | ND |
ZNF33B | - | - | - | - | 3 | Gain | ND |
ZNF365 | - | - | - | - | 3 | Gain | ND |
ZNF37A | - | - | - | - | 3 | Gain | ND |
ZNF384 | p.P517S | Missense | SNP | 0.382 | 2 | - | ND |
ZNF396 | - | - | - | - | 3 | Gain | ND |
ZNF397 | - | - | - | - | 3 | Gain | ND |
ZNF407 | - | - | - | - | 3 | Gain | ND |
ZNF438 | - | - | - | - | 3 | Gain | ND |
ZNF441 | p.P418S | Missense | SNP | 0.489 | 2 | - | ND |
ZNF460 | p.P447L | Missense | SNP | 0.385 | 2 | - | ND |
ZNF485 | - | - | - | - | 3 | Gain | ND |
ZNF487 | - | - | - | - | 3 | Gain | ND |
ZNF488 | - | - | - | - | 3 | Gain | ND |
ZNF503 | - | - | - | - | 3 | Gain | ND |
ZNF511 | - | - | - | - | 3 | Gain | ND |
ZNF511-PRAP1 | - | - | - | - | 3 | Gain | ND |
ZNF513 | p.R489H | Missense | SNP | 0.188 | 2 | - | ND |
ZNF516 | - | - | - | - | 3 | Gain | ND |
ZNF518A | - | - | - | - | 3 | Gain | ND |
ZNF519 | - | - | - | - | 3 | Gain | ND |
ZNF521 | - | - | - | - | 3 | Gain | ND |
ZNF527 | p.A20V | Missense | SNP | 0.268 | 2 | - | ND |
ZNF532 | p.R421Gfs*9 | Frame_Shift_Del | DEL | 0.559 | 3 | Gain | ND |
ZNF549 | p.G97V | Missense | SNP | 0.132 | 2 | - | ND |
ZNF552 | p.S172N | Missense | SNP | 0.454 | 2 | - | ND |
ZNF567 | p.H253Tfs*5 | Frame_Shift_Ins | INS | 0.303 | 2 | - | ND |
ZNF615 | p.G361R | Missense | SNP | 0.506 | 2 | - | ND |
ZNF616 | p.T209Rfs*8 | Frame_Shift_Del | DEL | 0.400 | 2 | - | ND |
ZNF628 | p.P325L | Missense | SNP | 0.326 | 2 | - | ND |
ZNF687 | p.E930del | In_Frame_Del | DEL | 0.560 | 2 | - | ND |
ZNF703 | p.A472T | Missense | SNP | 0.504 | 2 | - | ND |
ZNF71 | p.R107H | Missense | SNP | 0.566 | 2 | - | ND |
ZNF710 | p.R386C | Missense | SNP | 0.537 | 2 | - | ND |
ZNF717 | p.K511N | Missense | SNP | 0.116 | 2 | - | ND |
ZNF74 | p.A447T | Missense | SNP | 0.471 | 2 | - | ND |
ZNF777 | p.R566C | Missense | SNP | 0.442 | 2 | - | ND |
ZNF786 | p.R377C | Missense | SNP | 0.432 | 2 | - | ND |
ZNF792 | p.T222I | Missense | SNP | 0.492 | 2 | - | ND |
ZNF813 | p.S108N | Missense | SNP | 0.498 | 2 | - | ND |
ZNF814 | p.K350Nfs*121 | Frame_Shift_Del | DEL | 0.261 | 2 | - | ND |
ZNF865 | p.A462T p.S672L | Missense Missense | SNP SNP | 0.386 0.467 | 2 | - | ND |
ZNF880 | p.A332T | Missense | SNP | 0.467 | 2 | - | ND |
ZRANB1 | - | - | - | - | 3 | Gain | ND |
ZSCAN30 | - | - | - | - | 3 | Gain | ND |
ZSWIM4 | p.R679Q | Missense | SNP | 0.547 | 2 | - | ND |
ZSWIM8 | - | - | - | - | 3 | Gain | ND |
ZW10 | p.R762C | Missense | SNP | 0.304 | 2 | - | ND |
ZWINT | - | - | - | - | 3 | Gain | ND |