Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | Called |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
A1CF | - | - | - | - | 3 | Gain | - |
ABCB4 | p.S339Qfs*3 | Frame_Shift_Del | DEL | 0.600 | 2 | - | - |
ABCB6 | p.G318Vfs*9 | Frame_Shift_Del | DEL | 0.509 | 2 | - | - |
ABCC10 | p.Q369* | Nonsense | SNP | 0.539 | 2 | - | - |
ABCC2 | - | - | - | - | 3 | Gain | - |
ABCC4 | p.I1219Sfs*11 | Frame_Shift_Del | DEL | 0.846 | 2 | - | - |
ABCG8 | p.T401M | Missense | SNP | 0.490 | 2 | - | - |
ABHD3 | - | - | - | - | 3 | Gain | - |
ABI1 | - | - | - | - | 3 | Gain | - |
ABLIM1 | - | - | - | - | 3 | Gain | - |
ABRAXAS2 | - | - | - | - | 3 | Gain | - |
AC005324.4 | - | - | - | - | 2 | - | AC005324.4--RNU5B-1 |
AC007998.2 | - | - | - | - | 3 | Gain | - |
AC012254.2 | - | - | - | - | 3 | Gain | - |
AC022400.6 | - | - | - | - | 3 | Gain | - |
AC067752.1 | - | - | - | - | 3 | Gain | - |
AC068896.1 | - | - | - | - | 3 | Gain | - |
AC090227.1 | - | - | - | - | 3 | Gain | - |
AC090360.1 | - | - | - | - | 3 | Gain | - |
AC091551.1 | - | - | - | - | 3 | Gain | - |
ACAA2 | - | - | - | - | 3 | Gain | - |
ACAD11 | p.R127Q | Missense | SNP | 0.444 | 2 | - | - |
ACADSB | - | - | - | - | 3 | Gain | - |
ACBD5 | - | - | - | - | 3 | Gain | - |
ACBD7 | - | - | - | - | 3 | Gain | - |
ACSL5 | - | - | - | - | 3 | Gain | - |
ACSM6 | - | - | - | - | 3 | Gain | - |
ACTA2 | - | - | - | - | 3 | Gain | - |
ACTB | p.P332S | Missense | SNP | 0.516 | 2 | - | - |
ACTR1A | - | - | - | - | 3 | Gain | - |
ACTR2 | p.R354C | Missense | SNP | 0.410 | 2 | - | - |
ACVR2A | p.K437Rfs*5 | Frame_Shift_Del | DEL | 0.449 | 2 | - | - |
ADAM12 | - | - | - | - | 3 | Gain | - |
ADAM20 | p.R103Qfs*12 | Frame_Shift_Ins | INS | 0.293 | 2 | - | - |
ADAM21 | p.V339M | Missense | SNP | 0.476 | 2 | - | - |
ADAM8 | - | - | - | - | 3 | Gain | - |
ADAMTS14 | - | - | - | - | 3 | Gain | - |
ADAMTS9 | p.S1012Afs*75 p.R1350W | Frame_Shift_Del Missense | DEL SNP | 0.448 0.519 | 2 | - | - |
ADAMTSL4 | p.G780Vfs*62 | Frame_Shift_Del | DEL | 0.486 | 2 | - | - |
ADARB2 | - | - | - | - | 3 | Gain | - |
ADCY5 | p.D192_S193del | In_Frame_Del | DEL | 0.306 | 2 | - | - |
ADCY9 | p.P817Rfs*87 | Frame_Shift_Del | DEL | 0.448 | 2 | - | - |
ADCYAP1 | - | - | - | - | 3 | Gain | - |
ADD2 | p.R134Q | Missense | SNP | 0.510 | 2 | - | - |
ADD3 | p.R434C | Missense | SNP | 0.639 | 3 | Gain | - |
ADGRA1 | - | - | - | - | 3 | Gain | - |
ADGRF5 | p.Y1113H | Missense | SNP | 0.449 | 2 | - | - |
ADGRL3 | p.V963Cfs*39 | Frame_Shift_Del | DEL | 0.505 | 2 | - | - |
ADIRF | - | - | - | - | 3 | Gain | - |
ADK | - | - | - | - | 3 | Gain | - |
ADNP2 | - | - | - | - | 3 | Gain | - |
ADO | - | - | - | - | 3 | Gain | - |
ADRA2A | - | - | - | - | 3 | Gain | - |
ADRB1 | - | - | - | - | 3 | Gain | - |
AEBP1 | p.Q255Afs*21 | Frame_Shift_Ins | INS | 0.270 | 2 | - | - |
AFAP1L2 | - | - | - | - | 3 | Gain | - |
AFG3L2 | - | - | - | - | 3 | Gain | - |
AFMID | p.G71S | Missense | SNP | 0.442 | 2 | - | - |
AGAP2 | p.V630M | Missense | SNP | 0.504 | 2 | - | - |
AGAP4 | - | - | - | - | 3 | Gain | - |
AGAP5 | - | - | - | - | 3 | Gain | - |
AGAP6 | - | - | - | - | 3 | Gain | - |
AGAP9 | - | - | - | - | 3 | Gain | - |
AGL | p.N1304Kfs*7 | Frame_Shift_Ins | INS | 0.271 | 2 | - | - |
AGO1 | p.L17Cfs*99 | Frame_Shift_Del | DEL | 0.480 | 2 | - | - |
AHCYL1 | p.R433Q | Missense | SNP | 0.386 | 2 | - | - |
AHRR | p.R401M | Missense | SNP | 0.500 | 2 | - | - |
AIF1 | p.P137H | Missense | SNP | 0.537 | 2 | - | - |
AIFM2 | - | - | - | - | 3 | Gain | - |
AIM1 | p.P734L | Missense | SNP | 0.517 | ND | ND | - |
AKAIN1 | - | - | - | - | 3 | Gain | - |
AKAP9 | p.K39Rfs*17 p.V3673A | Frame_Shift_Del Missense | DEL SNP | 0.446 0.454 | 2 | - | - |
AKR1B1 | p.A209T | Missense | SNP | 0.500 | 2 | - | - |
AKR1C1 | - | - | - | - | 3 | Gain | - |
AKR1C2 | - | - | - | - | 3 | Gain | - |
AKR1C3 | - | - | - | - | 3 | Gain | - |
AKR1C4 | - | - | - | - | 3 | Gain | - |
AKR1C8P | - | - | - | - | 3 | Gain | - |
AKR1E2 | - | - | - | - | 3 | Gain | - |
AL117339.5 | - | - | - | - | 3 | Gain | - |
AL133352.1 | - | - | - | - | 3 | Gain | - |
AL133353.2 | - | - | - | - | 3 | Gain | - |
AL157392.5 | - | - | - | - | 3 | Gain | - |
AL355075.4 | - | - | - | - | ND | ND | AL355075.4--HIST1H1E |
AL355315.1 | - | - | - | - | 3 | Gain | - |
AL356053.1 | p.I188* | Frame_Shift_Del | DEL | 0.318 | ND | ND | - |
AL360181.3 | - | - | - | - | 3 | Gain | - |
AL365273.2 | - | - | - | - | 3 | Gain | - |
AL583836.1 | - | - | - | - | 3 | Gain | - |
ALDH18A1 | - | - | - | - | 3 | Gain | - |
ALDH1A2 | p.R85C | Missense | SNP | 0.522 | 2 | - | - |
ALDH3B2 | p.L213M | Missense | SNP | 0.484 | 2 | - | - |
ALDOC | p.R22Q | Missense | SNP | 0.493 | 2 | - | - |
ALKBH4 | p.C267Y | Missense | SNP | 0.552 | 2 | - | - |
ALOX5 | - | - | - | - | 3 | Gain | - |
ALPK2 | - | - | - | - | 3 | Gain | - |
ALS2CR11 | p.N837Ifs*9 p.K729Nfs*4 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.528 0.516 | ND | ND | - |
ALX1 | p.E146K | Missense | SNP | 0.650 | 2 | - | - |
AMT | p.L155I | Missense | SNP | 0.533 | 2 | - | - |
ANAPC16 | - | - | - | - | 3 | Gain | - |
ANK2 | p.A1819V | Missense | SNP | 0.468 | 2 | - | - |
ANK3 | - | - | - | - | 3 | Gain | - |
ANKEF1 | p.G295D | Missense | SNP | 0.571 | 2 | - | - |
ANKFN1 | p.R763K | Missense | SNP | 0.511 | 2 | - | - |
ANKRD1 | - | - | - | - | 3 | Gain | - |
ANKRD11 | p.A2265Pfs*72 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
ANKRD12 | - | - | - | - | 3 | Gain | - |
ANKRD16 | - | - | - | - | 3 | Gain | - |
ANKRD2 | - | - | - | - | 3 | Gain | - |
ANKRD22 | - | - | - | - | 3 | Gain | - |
ANKRD26 | - | - | - | - | 3 | Gain | - |
ANKRD27 | p.H464Y | Missense | SNP | 0.564 | 2 | - | - |
ANKRD29 | - | - | - | - | 3 | Gain | - |
ANKRD30A | - | - | - | - | 3 | Gain | - |
ANKRD30B | - | - | - | - | 3 | Gain | - |
ANKRD31 | p.G512Vfs*20 | Frame_Shift_Del | DEL | 0.545 | 2 | - | - |
ANKRD62 | - | - | - | - | 3 | Gain | - |
ANKS3 | p.R550H | Missense | SNP | 0.343 | 2 | - | - |
ANO6 | p.V698I | Missense | SNP | 0.582 | 2 | - | - |
ANTXRL | - | - | - | - | 3 | Gain | - |
ANXA11 | - | - | - | - | 3 | Gain | - |
ANXA7 | - | - | - | - | 3 | Gain | - |
ANXA8 | - | - | - | - | 3 | Gain | - |
ANXA8L1 | - | - | - | - | 3 | Gain | - |
AOC1 | p.R190Gfs*18 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
AP1G1 | p.R8W | Missense | SNP | 0.497 | 2 | - | - |
AP1S1 | p.D122Mfs*11 | Frame_Shift_Del | DEL | 0.118 | 2 | - | - |
AP2A2 | p.P670Lfs*67 p.A376T | Frame_Shift_Del Missense | DEL SNP | 0.556 0.476 | 2 | - | - |
AP3B1 | p.I597Yfs*3 | Frame_Shift_Del | DEL | 0.276 | 2 | - | - |
AP3M1 | - | - | - | - | 3 | Gain | - |
APBB1IP | - | - | - | - | 3 | Gain | - |
APC | p.E902K p.P1604L | Missense Missense | SNP SNP | 0.492 0.485 | 2 | - | - |
APCDD1 | - | - | - | - | 3 | Gain | - |
APOBR | p.G267C | Missense | SNP | 0.587 | 2 | - | - |
APOL2 | p.R87Q | Missense | SNP | 0.363 | 2 | - | - |
AQP2 | p.T125M | Missense | SNP | 0.490 | 2 | - | - |
AQP4 | - | - | - | - | 3 | Gain | - |
ARAP2 | p.A469T p.G250* | Missense Nonsense | SNP SNP | 0.500 0.506 | 2 | - | - |
ARGLU1 | p.R45H p.A186T | Missense Missense | SNP SNP | 0.454 0.537 | 2 | - | - |
ARHGAP12 | - | - | - | - | 3 | Gain | - |
ARHGAP19 | - | - | - | - | 3 | Gain | - |
ARHGAP19-SLIT1 | - | - | - | - | 3 | Gain | - |
ARHGAP21 | - | - | - | - | 3 | Gain | - |
ARHGAP22 | - | - | - | - | 3 | Gain | - |
ARHGAP28 | - | - | - | - | 3 | Gain | - |
ARHGAP39 | p.V443I | Missense | SNP | 0.439 | 2 | - | - |
ARHGAP5 | p.F935Lfs*5 | Frame_Shift_Del | DEL | 0.064 | 2 | - | - |
ARHGAP6 | p.G745R p.R433Q | Missense Missense | SNP SNP | 0.553 0.459 | ND | ND | - |
ARHGEF1 | p.D382N | Missense | SNP | 0.391 | 2 | - | - |
ARHGEF10L | p.T495M | Missense | SNP | 0.385 | 2 | - | - |
ARHGEF40 | p.R1076Gfs*18 | Frame_Shift_Del | DEL | 0.521 | 2 | - | - |
ARID1A | p.P1175Hfs*5 p.D1850Gfs*4 p.X751_splice | Frame_Shift_Del Frame_Shift_Ins Splice_Site | DEL INS SNP | 0.476 0.337 0.494 | 2 | - | - |
ARID1B | p.Q1810* | Nonsense | SNP | 0.512 | 2 | - | - |
ARID3A | p.X499_splice | Splice_Site | SNP | 0.535 | 2 | - | - |
ARID4B | p.Q1041* | Nonsense | SNP | 0.491 | 2 | - | - |
ARID5B | - | - | - | - | 3 | Gain | - |
ARL17A | - | - | - | - | 1 | Loss | - |
ARL17B | - | - | - | - | 1 | Loss | - |
ARL2 | p.R78Q | Missense | SNP | 0.473 | 2 | - | - |
ARL3 | - | - | - | - | 3 | Gain | - |
ARL5B | - | - | - | - | 3 | Gain | - |
ARMC3 | - | - | - | - | 3 | Gain | - |
ARMC4 | - | - | - | - | 3 | Gain | - |
ARMH3 | - | - | - | - | 3 | Gain | - |
ARMS2 | - | - | - | - | 3 | Gain | - |
AS3MT | - | - | - | - | 3 | Gain | - |
ASAH2 | - | - | - | - | 3 | Gain | - |
ASAH2B | - | - | - | - | 3 | Gain | - |
ASB11 | p.L32Ffs*14 | Frame_Shift_Ins | INS | 0.379 | ND | ND | - |
ASB13 | - | - | - | - | 3 | Gain | - |
ASCC1 | - | - | - | - | 3 | Gain | - |
ASH1L | p.I1341N | Missense | SNP | 0.504 | 2 | - | - |
ASXL3 | - | - | - | - | 3 | Gain | - |
ATAD1 | - | - | - | - | 3 | Gain | - |
ATE1 | - | - | - | - | 3 | Gain | - |
ATM | p.S214Pfs*16 | Frame_Shift_Del | DEL | 0.425 | 2 | - | - |
ATOH7 | - | - | - | - | 3 | Gain | - |
ATP5F1A | - | - | - | - | 3 | Gain | - |
ATP5F1C | - | - | - | - | 3 | Gain | - |
ATP5F1E | - | - | - | - | 2 | - | SNHG1--ATP5F1E |
ATP5MD | - | - | - | - | 3 | Gain | - |
ATP6V1D | p.R30Q | Missense | SNP | 0.546 | 2 | - | - |
ATP8A1 | p.R725H | Missense | SNP | 0.504 | 2 | - | - |
ATP8A2 | p.V506M | Missense | SNP | 0.496 | 2 | - | - |
ATP8B1 | - | - | - | - | 3 | Gain | - |
ATP9B | - | - | - | - | 3 | Gain | - |
ATRNL1 | - | - | - | - | 3 | Gain | - |
ATRX | p.V608I | Missense | SNP | 0.059 | ND | ND | - |
ATXN7 | p.P176L | Missense | SNP | 0.329 | 2 | - | - |
AVIL | p.G118Vfs*6 p.T480M | Frame_Shift_Del Missense | DEL SNP | 0.449 0.476 | 2 | - | - |
AVL9 | p.G397A | Missense | SNP | 0.403 | 2 | - | - |
AVPI1 | - | - | - | - | 3 | Gain | - |
AVPR1B | p.D104N | Missense | SNP | 0.450 | 2 | - | - |
B3GNT6 | p.G221D | Missense | SNP | 0.547 | 2 | - | - |
B4GALNT4 | p.T982M | Missense | SNP | 0.508 | 2 | - | - |
B4GALT6 | - | - | - | - | 3 | Gain | - |
BAG3 | - | - | - | - | 3 | Gain | - |
BAHCC1 | p.G1603R | Missense | SNP | 0.516 | 2 | - | - |
BAIAP2L2 | p.V396M | Missense | SNP | 0.438 | 2 | - | - |
BAMBI | - | - | - | - | 3 | Gain | - |
BANP | p.A232T | Missense | SNP | 0.519 | 2 | - | - |
BBIP1 | - | - | - | - | 3 | Gain | - |
BCCIP | - | - | - | - | 3 | Gain | - |
BCHE | p.N134Mfs*5 | Frame_Shift_Del | DEL | 0.403 | 2 | - | - |
BCKDHA | p.T211M | Missense | SNP | 0.450 | 2 | - | - |
BCL11A | p.L360Sfs*61 | Frame_Shift_Del | DEL | 0.145 | 2 | - | - |
BCL2 | - | - | - | - | 3 | Gain | - |
BCL9 | p.P516Lfs*5 | Frame_Shift_Del | DEL | 0.532 | 2 | - | - |
BCL9L | p.P1127Hfs*21 p.A77Gfs*14 | Frame_Shift_Del Frame_Shift_Ins | DEL INS | 0.509 0.329 | 2 | - | - |
BCR | p.R232W | Missense | SNP | 0.452 | 2 | - | - |
BEND7 | - | - | - | - | 3 | Gain | - |
BICC1 | - | - | - | - | 3 | Gain | - |
BIN3 | p.K113Sfs*13 | Frame_Shift_Del | DEL | 0.306 | 2 | - | - |
BIRC7 | p.Q54* | Nonsense | SNP | 0.483 | 2 | - | - |
BLNK | - | - | - | - | 3 | Gain | - |
BLOC1S2 | - | - | - | - | 3 | Gain | - |
BMI1 | - | - | - | - | 3 | Gain | - |
BMPR1A | - | - | - | - | 3 | Gain | - |
BMS1 | - | - | - | - | 3 | Gain | - |
BNIP3 | - | - | - | - | 3 | Gain | - |
BOD1L2 | - | - | - | - | 3 | Gain | - |
BOP1 | - | - | - | - | 1 | Loss | - |
BORCS7 | - | - | - | - | 3 | Gain | - |
BORCS7-ASMT | - | - | - | - | 3 | Gain | - |
BPIFB4 | p.V74Sfs*9 p.R289W | Frame_Shift_Ins Missense | INS SNP | 0.273 0.465 | 2 | - | - |
BRAT1 | p.G413Afs*34 | Frame_Shift_Del | DEL | 0.364 | 2 | - | - |
BRD4 | p.R444C | Missense | SNP | 0.529 | 2 | - | - |
BRPF1 | p.Q938Sfs*5 | Frame_Shift_Del | DEL | 0.464 | 2 | - | - |
BTAF1 | - | - | - | - | 3 | Gain | - |
BTBD16 | - | - | - | - | 3 | Gain | - |
BTRC | - | - | - | - | 3 | Gain | - |
BUB3 | - | - | - | - | 3 | Gain | - |
BVES | p.H320Y | Missense | SNP | 0.080 | 2 | - | - |
C10orf105 | - | - | - | - | 3 | Gain | - |
C10orf113 | - | - | - | - | 3 | Gain | - |
C10orf120 | - | - | - | - | 3 | Gain | - |
C10orf53 | - | - | - | - | 3 | Gain | - |
C10orf55 | - | - | - | - | 3 | Gain | - |
C10orf62 | - | - | - | - | 3 | Gain | - |
C10orf67 | - | - | - | - | 3 | Gain | - |
C10orf71 | - | - | - | - | 3 | Gain | - |
C10orf82 | - | - | - | - | 3 | Gain | - |
C10orf88 | - | - | - | - | 3 | Gain | - |
C10orf90 | - | - | - | - | 3 | Gain | - |
C10orf99 | - | - | - | - | 3 | Gain | - |
C17orf74 | p.P442Rfs*25 | Frame_Shift_Del | DEL | 0.469 | ND | ND | - |
C18orf21 | - | - | - | - | 3 | Gain | - |
C18orf25 | - | - | - | - | 3 | Gain | - |
C18orf32 | - | - | - | - | 3 | Gain | - |
C18orf54 | - | - | - | - | 3 | Gain | - |
C18orf63 | - | - | - | - | 3 | Gain | - |
C18orf8 | p.C394Hfs*4 | Frame_Shift_Del | DEL | 0.526 | ND | ND | - |
C1D | p.N120Mfs*61 | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
C1QB | p.C31Y | Missense | SNP | 0.400 | 2 | - | - |
C1QL3 | p.R180H | Missense | SNP | 0.321 | 3 | Gain | - |
C21orf58 | p.T203M | Missense | SNP | 0.522 | 2 | - | - |
C6orf89 | p.Q61Afs*10 | Frame_Shift_Ins | INS | 0.271 | 2 | - | - |
CABCOCO1 | - | - | - | - | 3 | Gain | - |
CABLES1 | - | - | - | - | 3 | Gain | - |
CABYR | - | - | - | - | 3 | Gain | - |
CACNA1E | p.R1594H | Missense | SNP | 0.487 | 2 | - | - |
CACNA1I | p.P665L | Missense | SNP | 0.591 | 2 | - | - |
CACNA2D3 | p.A1023S | Missense | SNP | 0.345 | 2 | - | - |
CACNA2D4 | p.R441H | Missense | SNP | 0.165 | 2 | - | - |
CACNB2 | p.T254M p.R608H | Missense Missense | SNP SNP | 0.343 0.690 | 3 | Gain | - |
CACUL1 | - | - | - | - | 3 | Gain | - |
CAD | p.R2064C | Missense | SNP | 0.408 | 2 | - | - |
CALCRL | p.F16Lfs*2 | Frame_Shift_Del | DEL | 0.465 | 2 | - | - |
CALHM1 | - | - | - | - | 3 | Gain | - |
CALHM2 | - | - | - | - | 3 | Gain | - |
CALHM3 | - | - | - | - | 3 | Gain | - |
CALML3 | - | - | - | - | 3 | Gain | - |
CALML5 | - | - | - | - | 3 | Gain | - |
CALY | - | - | - | - | 3 | Gain | - |
CAMK1D | - | - | - | - | 3 | Gain | - |
CAMK2B | p.A558V | Missense | SNP | 0.343 | 2 | - | - |
CAMK2G | - | - | - | - | 3 | Gain | - |
CAMKK1 | p.R510* | Nonsense | SNP | 0.433 | 2 | - | - |
CAMSAP2 | p.R1179W | Missense | SNP | 0.471 | 2 | - | - |
CAMTA2 | p.P889Lfs*9 p.P547L | Frame_Shift_Del Missense | DEL SNP | 0.471 0.519 | 2 | - | - |
CANX | p.R274H | Missense | SNP | 0.465 | 2 | - | - |
CARD14 | p.E929K | Missense | SNP | 0.512 | 2 | - | - |
CARS | p.R453L | Missense | SNP | 0.459 | 2 | - | - |
CASC1 | p.I554M | Missense | SNP | 0.460 | 2 | - | - |
CASC10 | - | - | - | - | 3 | Gain | - |
CASP7 | - | - | - | - | 3 | Gain | - |
CASS4 | p.R67H | Missense | SNP | 0.436 | 2 | - | - |
CASZ1 | p.T715M | Missense | SNP | 0.511 | 2 | - | - |
CATIP | p.A255T | Missense | SNP | 0.490 | 2 | - | - |
CBFA2T2 | p.E402D | Missense | SNP | 0.462 | 2 | - | - |
CBLN2 | - | - | - | - | 3 | Gain | - |
CC2D2B | - | - | - | - | 3 | Gain | - |
CCAR1 | p.Q596* | Nonsense | SNP | 0.379 | 3 | Gain | - |
CCBE1 | p.V92I | Missense | SNP | 0.341 | 3 | Gain | - |
CCDC102B | p.I270Nfs*31 | Frame_Shift_Ins | INS | 0.372 | 3 | Gain | - |
CCDC150 | p.R971Q | Missense | SNP | 0.489 | 2 | - | - |
CCDC153 | p.P200Lfs*4 | Frame_Shift_Del | DEL | 0.464 | 2 | - | - |
CCDC168 | p.Q3471Tfs*12 p.N2569Kfs*26 | Frame_Shift_Ins Frame_Shift_Ins | INS INS | 0.303 0.285 | 2 | - | - |
CCDC172 | - | - | - | - | 3 | Gain | - |
CCDC178 | - | - | - | - | 3 | Gain | - |
CCDC186 | - | - | - | - | 3 | Gain | - |
CCDC191 | p.E82D | Missense | SNP | 0.556 | 2 | - | - |
CCDC3 | - | - | - | - | 3 | Gain | - |
CCDC6 | - | - | - | - | 3 | Gain | - |
CCDC68 | - | - | - | - | 3 | Gain | - |
CCDC7 | - | - | - | - | 3 | Gain | - |
CCDC74B | - | - | - | - | 1 | Loss | - |
CCDC96 | p.R524H | Missense | SNP | 0.525 | 2 | - | - |
CCER2 | p.E232del | In_Frame_Del | DEL | 0.422 | 2 | - | - |
CCNJ | - | - | - | - | 3 | Gain | - |
CCNY | - | - | - | - | 3 | Gain | - |
CCR7 | p.A238V | Missense | SNP | 0.514 | 2 | - | - |
CCSER2 | - | - | - | - | 3 | Gain | - |
CCT2 | p.R376C | Missense | SNP | 0.404 | 2 | - | - |
CD163L1 | p.P890L p.V721M | Missense Missense | SNP SNP | 0.498 0.137 | 2 | - | - |
CD19 | p.X120_splice | Splice_Site | DEL | 0.529 | 2 | - | - |
CD226 | - | - | - | - | 3 | Gain | - |
CD55 | p.T363M | Missense | SNP | 0.584 | 2 | - | - |
CD79A | p.R131Gfs*61 | Frame_Shift_Del | DEL | 0.437 | 2 | - | - |
CDC123 | - | - | - | - | 3 | Gain | - |
CDC42EP4 | p.V144M | Missense | SNP | 0.464 | 2 | - | - |
CDH17 | p.S645Lfs*3 | Frame_Shift_Del | DEL | 0.378 | 2 | - | - |
CDH19 | - | - | - | - | 3 | Gain | - |
CDH2 | - | - | - | - | 3 | Gain | - |
CDH20 | - | - | - | - | 3 | Gain | - |
CDH23 | - | - | - | - | 3 | Gain | - |
CDH7 | p.R264Q | Missense | SNP | 0.706 | 3 | Gain | - |
CDHR1 | - | - | - | - | 3 | Gain | - |
CDK1 | - | - | - | - | 3 | Gain | - |
CDK19 | p.S62L | Missense | SNP | 0.481 | 2 | - | - |
CDKN2B | p.L93Pfs*70 | Frame_Shift_Ins | INS | 0.327 | 2 | - | - |
CDNF | - | - | - | - | 3 | Gain | - |
CDS1 | p.F263Lfs*6 | Frame_Shift_Del | DEL | 0.430 | 2 | - | - |
CDYL | p.D296Y | Missense | SNP | 0.096 | 2 | - | - |
CELF2 | - | - | - | - | 3 | Gain | - |
CELF3 | p.V279I | Missense | SNP | 0.557 | 2 | - | - |
CELF4 | - | - | - | - | 3 | Gain | - |
CELSR3 | p.R1336H | Missense | SNP | 0.506 | 2 | - | - |
CEP192 | p.R763C | Missense | SNP | 0.355 | 3 | Gain | - |
CEP250 | p.V728I | Missense | SNP | 0.491 | 2 | - | - |
CEP55 | - | - | - | - | 3 | Gain | - |
CEP76 | - | - | - | - | 3 | Gain | - |
CEP85 | p.T746I | Missense | SNP | 0.442 | 2 | - | - |
CETN1 | - | - | - | - | 3 | Gain | - |
CFAP43 | - | - | - | - | 3 | Gain | - |
CFAP45 | p.R403H | Missense | SNP | 0.475 | 2 | - | - |
CFAP46 | - | - | - | - | 3 | Gain | - |
CFAP53 | p.F148L | Missense | SNP | 0.653 | 3 | Gain | - |
CFAP58 | - | - | - | - | 3 | Gain | - |
CFAP70 | - | - | - | - | 3 | Gain | - |
CH25H | - | - | - | - | 3 | Gain | - |
CH507-42P11.8 | p.R587Q | Missense | SNP | 0.530 | ND | ND | - |
CHAT | - | - | - | - | 3 | Gain | - |
CHCHD1 | - | - | - | - | 3 | Gain | - |
CHD7 | p.T1133M | Missense | SNP | 0.453 | 2 | - | - |
CHIA | p.Q62* | Nonsense | SNP | 0.451 | 2 | - | - |
CHMP1B | - | - | - | - | 3 | Gain | - |
CHMP2A | p.C173G | Missense | SNP | 0.523 | 2 | - | - |
CHRNA6 | p.Y220C | Missense | SNP | 0.456 | 2 | - | - |
CHRND | p.R244H | Missense | SNP | 0.456 | 2 | - | - |
CHST15 | - | - | - | - | 3 | Gain | - |
CHST3 | - | - | - | - | 3 | Gain | - |
CHST5 | p.A150V | Missense | SNP | 0.500 | 2 | - | - |
CHST8 | p.R179H | Missense | SNP | 0.455 | 2 | - | - |
CHST9 | - | - | - | - | 3 | Gain | - |
CHUK | - | - | - | - | 3 | Gain | - |
CIDEA | - | - | - | - | 3 | Gain | - |
CILP | p.G3R | Missense | SNP | 0.445 | 2 | - | - |
CILP2 | p.R336* | Nonsense | SNP | 0.514 | 2 | - | - |
CISD1 | - | - | - | - | 3 | Gain | - |
CLDN6 | p.A102T | Missense | SNP | 0.342 | 2 | - | - |
CLP1 | p.R302H | Missense | SNP | 0.484 | 2 | - | - |
CLRN3 | - | - | - | - | 3 | Gain | - |
CLUL1 | - | - | - | - | 3 | Gain | - |
CNDP1 | - | - | - | - | 3 | Gain | - |
CNDP2 | - | - | - | - | 3 | Gain | - |
CNNM1 | - | - | - | - | 3 | Gain | - |
CNNM2 | - | - | - | - | 3 | Gain | - |
CNOT1 | p.R1929* | Nonsense | SNP | 0.370 | 2 | - | - |
CNOT10 | p.X754_splice | Splice_Site | SNP | 0.412 | 2 | - | - |
COG3 | p.V465I | Missense | SNP | 0.500 | 2 | - | - |
COL11A1 | p.P546Lfs*87 p.V1658I | Frame_Shift_Del Missense | DEL SNP | 0.372 0.537 | 2 | - | - |
COL13A1 | - | - | - | - | 3 | Gain | - |
COL17A1 | p.P1157S p.R177Q | Missense Missense | SNP SNP | 0.094 0.299 | 3 | Gain | - |
COL18A1 | p.P772Qfs*16 | Frame_Shift_Del | DEL | 0.570 | 2 | - | - |
COL21A1 | p.G632Rfs*24 | Frame_Shift_Ins | INS | 0.314 | 2 | - | - |
COL22A1 | p.P727L | Missense | SNP | 0.472 | 2 | - | - |
COL3A1 | p.K275Rfs*9 | Frame_Shift_Del | DEL | 0.463 | 2 | - | - |
COL6A2 | p.R734C | Missense | SNP | 0.491 | 2 | - | - |
COL6A6 | p.E1487G | Missense | SNP | 0.532 | 2 | - | - |
COL7A1 | p.G2025A | Missense | SNP | 0.112 | 2 | - | - |
COL8A2 | p.P94Lfs*143 | Frame_Shift_Del | DEL | 0.476 | 2 | - | - |
COLEC12 | - | - | - | - | 3 | Gain | - |
COMMD3 | - | - | - | - | 3 | Gain | - |
COMMD3-BMI1 | - | - | - | - | 3 | Gain | - |
COMP | p.P416L | Missense | SNP | 0.470 | 2 | - | - |
COMTD1 | - | - | - | - | 3 | Gain | - |
COPS8 | p.A117T | Missense | SNP | 0.483 | 2 | - | - |
COQ6 | p.P373L | Missense | SNP | 0.493 | 2 | - | - |
CORO7 | p.S433I | Missense | SNP | 0.634 | 2 | - | - |
COX15 | - | - | - | - | 3 | Gain | - |
CPA6 | p.L310I | Missense | SNP | 0.519 | 2 | - | - |
CPAMD8 | p.V1068Wfs*111 | Frame_Shift_Del | DEL | 0.434 | 2 | - | - |
CPEB3 | - | - | - | - | 3 | Gain | - |
CPLX4 | - | - | - | - | 3 | Gain | - |
CPN1 | - | - | - | - | 3 | Gain | - |
CPNE8 | p.V396Sfs*9 | Frame_Shift_Del | DEL | 0.468 | 2 | - | - |
CPS1 | p.K133N | Missense | SNP | 0.516 | 2 | - | - |
CPSF3 | p.E31K | Missense | SNP | 0.526 | 2 | - | - |
CPSF4 | p.R238W | Missense | SNP | 0.413 | 2 | - | - |
CPSF6 | p.V156Cfs*6 | Frame_Shift_Ins | INS | 0.284 | 2 | - | - |
CPXM2 | - | - | - | - | 3 | Gain | - |
CREBBP | p.S1680del | In_Frame_Del | DEL | 0.482 | 2 | - | - |
CREM | - | - | - | - | 3 | Gain | - |
CRTAC1 | - | - | - | - | 3 | Gain | - |
CRY2 | p.R362H | Missense | SNP | 0.513 | 2 | - | - |
CSGALNACT2 | - | - | - | - | 3 | Gain | - |
CSNK1E | p.T235M | Missense | SNP | 0.475 | 2 | - | - |
CSPG4 | p.A1018T | Missense | SNP | 0.625 | 2 | - | - |
CSRNP1 | p.G476D | Missense | SNP | 0.476 | 2 | - | - |
CST2 | p.R46H | Missense | SNP | 0.528 | 2 | - | - |
CSTF2T | - | - | - | - | 3 | Gain | - |
CTAGE1 | - | - | - | - | 3 | Gain | - |
CTBP2 | p.R759Q p.A602T | Missense Missense | SNP SNP | 0.356 0.386 | 3 | Gain | - |
CTDP1 | - | - | - | - | 3 | Gain | - |
CTIF | - | - | - | - | 3 | Gain | - |
CTNNA3 | - | - | - | - | 3 | Gain | - |
CTNND2 | p.P524L | Missense | SNP | 0.487 | 2 | - | - |
CTSF | p.V474M | Missense | SNP | 0.500 | 2 | - | - |
CUBN | p.S2214N | Missense | SNP | 0.051 | 3 | Gain | - |
CUEDC2 | - | - | - | - | 3 | Gain | - |
CUL2 | - | - | - | - | 3 | Gain | - |
CUL3 | p.R128H | Missense | SNP | 0.397 | 2 | - | - |
CUTC | - | - | - | - | 3 | Gain | - |
CUZD1 | - | - | - | - | 3 | Gain | - |
CWC27 | p.V335* | Frame_Shift_Del | DEL | 0.492 | 2 | - | - |
CWF19L1 | - | - | - | - | 3 | Gain | - |
CXCL12 | - | - | - | - | 3 | Gain | - |
CXorf56 | p.A62V | Missense | SNP | 0.471 | ND | ND | - |
CXXC1 | - | - | - | - | 3 | Gain | - |
CYB5A | - | - | - | - | 3 | Gain | - |
CYP17A1 | - | - | - | - | 3 | Gain | - |
CYP26A1 | - | - | - | - | 3 | Gain | - |
CYP26C1 | - | - | - | - | 3 | Gain | - |
CYP2C18 | - | - | - | - | 3 | Gain | - |
CYP2C19 | - | - | - | - | 3 | Gain | - |
CYP2C8 | - | - | - | - | 3 | Gain | - |
CYP2C9 | - | - | - | - | 3 | Gain | - |
CYP2E1 | - | - | - | - | 3 | Gain | - |
DAB1 | p.G342D | Missense | SNP | 0.504 | 2 | - | - |
DAPK1 | p.R730M | Missense | SNP | 0.532 | 2 | - | - |
DAPP1 | p.S73Cfs*8 | Frame_Shift_Del | DEL | 0.454 | 2 | - | - |
DBF4 | p.L409Afs*14 | Frame_Shift_Ins | INS | 0.284 | 2 | - | - |
DCC | - | - | - | - | 3 | Gain | - |
DCHS1 | p.R2892Q | Missense | SNP | 0.467 | 2 | - | - |
DCHS2 | p.S968R | Missense | SNP | 0.482 | 2 | - | - |
DCLRE1A | - | - | - | - | 3 | Gain | - |
DCLRE1C | - | - | - | - | 3 | Gain | - |
DCN | p.T151Nfs*9 | Frame_Shift_Ins | INS | 0.306 | 2 | - | - |
DDAH2 | p.V201M | Missense | SNP | 0.472 | 2 | - | - |
DDIT4 | - | - | - | - | 3 | Gain | - |
DDX17 | p.R439H | Missense | SNP | 0.433 | 2 | - | - |
DDX21 | - | - | - | - | 3 | Gain | - |
DDX50 | - | - | - | - | 3 | Gain | - |
DDX52 | p.E518A | Missense | SNP | 0.548 | 2 | - | - |
DDX59 | p.N577Ifs*6 | Frame_Shift_Del | DEL | 0.497 | 2 | - | - |
DDX60L | p.Y1625H | Missense | SNP | 0.431 | 2 | - | - |
DEPP1 | - | - | - | - | 3 | Gain | - |
DET1 | p.R218H | Missense | SNP | 0.504 | 2 | - | - |
DGKH | p.R273H | Missense | SNP | 0.473 | 2 | - | - |
DGKI | p.R791H | Missense | SNP | 0.421 | 2 | - | - |
DHRS12 | p.H120Y | Missense | SNP | 0.381 | 2 | - | - |
DHTKD1 | - | - | - | - | 3 | Gain | - |
DHX32 | - | - | - | - | 3 | Gain | - |
DIP2C | - | - | - | - | 3 | Gain | - |
DKK1 | - | - | - | - | 3 | Gain | - |
DLG5 | - | - | - | - | 3 | Gain | - |
DLGAP1 | - | - | - | - | 3 | Gain | - |
DMBT1 | - | - | - | - | 3 | Gain | - |
DMD | p.N3378Tfs*24 | Frame_Shift_Del | DEL | 0.469 | ND | ND | - |
DNA2 | - | - | - | - | 3 | Gain | - |
DNAH17 | p.D1228N | Missense | SNP | 0.378 | 2 | - | - |
DNAH5 | p.A244T | Missense | SNP | 0.456 | 2 | - | - |
DNAJB12 | - | - | - | - | 3 | Gain | - |
DNAJC1 | - | - | - | - | 3 | Gain | - |
DNAJC11 | p.R273* | Nonsense | SNP | 0.523 | 2 | - | - |
DNAJC12 | - | - | - | - | 3 | Gain | - |
DNAJC9 | - | - | - | - | 3 | Gain | - |
DNMBP | - | - | - | - | 3 | Gain | - |
DNMT3B | p.R538H | Missense | SNP | 0.534 | 2 | - | - |
DNTT | - | - | - | - | 3 | Gain | - |
DOC2A | p.K312del | In_Frame_Del | DEL | 0.438 | 2 | - | - |
DOCK1 | - | - | - | - | 3 | Gain | - |
DOCK11 | p.Y2012* | Nonsense | SNP | 0.471 | ND | ND | - |
DOCK7 | p.P526L | Missense | SNP | 0.475 | 2 | - | - |
DOK1 | p.V175M | Missense | SNP | 0.439 | 2 | - | - |
DOK6 | - | - | - | - | 3 | Gain | - |
DONSON | p.R27Q | Missense | SNP | 0.441 | 2 | - | - |
DPCD | - | - | - | - | 3 | Gain | - |
DPRX | p.V95Sfs*7 | Frame_Shift_Del | DEL | 0.505 | 2 | - | - |
DPYSL2 | p.F20Lfs*104 p.R481H | Frame_Shift_Del Missense | DEL SNP | 0.467 0.495 | 2 | - | - |
DPYSL4 | - | - | - | - | 3 | Gain | - |
DRGX | - | - | - | - | 3 | Gain | - |
DROSHA | p.R254H | Missense | SNP | 0.520 | 2 | - | - |
DSC1 | p.A574T | Missense | SNP | 0.282 | 3 | Gain | - |
DSC2 | - | - | - | - | 3 | Gain | - |
DSC3 | - | - | - | - | 3 | Gain | - |
DSEL | - | - | - | - | 3 | Gain | - |
DSG1 | - | - | - | - | 3 | Gain | - |
DSG2 | - | - | - | - | 3 | Gain | - |
DSG3 | - | - | - | - | 3 | Gain | - |
DSG4 | - | - | - | - | 3 | Gain | - |
DSP | p.R866C p.R1915C | Missense Missense | SNP SNP | 0.516 0.510 | 2 | - | - |
DSTYK | p.L732del | In_Frame_Del | DEL | 0.509 | 2 | - | - |
DTNA | p.A498Qfs*40 | Frame_Shift_Del | DEL | 0.651 | 3 | Gain | - |
DTX4 | p.G510Afs*35 | Frame_Shift_Del | DEL | 0.431 | 2 | - | - |
DUPD1 | - | - | - | - | 3 | Gain | - |
DUS3L | p.V440I | Missense | SNP | 0.558 | 2 | - | - |
DUSP13 | - | - | - | - | 3 | Gain | - |
DUSP5 | - | - | - | - | 3 | Gain | - |
DUSP7 | p.G42E | Missense | SNP | 0.571 | 2 | - | - |
DYDC1 | - | - | - | - | 3 | Gain | - |
DYDC2 | - | - | - | - | 3 | Gain | - |
DYM | - | - | - | - | 3 | Gain | - |
DYNAP | - | - | - | - | 3 | Gain | - |
DYNC1H1 | p.R2831H | Missense | SNP | 0.525 | 2 | - | - |
DYRK1A | p.X317_splice | Splice_Site | DEL | 0.434 | 2 | - | - |
EBF3 | - | - | - | - | 3 | Gain | - |
EBF4 | p.A553T | Missense | SNP | 0.481 | 2 | - | - |
EBLN1 | - | - | - | - | 3 | Gain | - |
ECD | - | - | - | - | 3 | Gain | - |
ECHDC3 | - | - | - | - | 3 | Gain | - |
ECHS1 | - | - | - | - | 3 | Gain | - |
ECI1 | p.T268M | Missense | SNP | 0.433 | 2 | - | - |
EDRF1 | p.N302Mfs*47 | Frame_Shift_Del | DEL | 0.555 | 3 | Gain | - |
EEF1AKMT2 | - | - | - | - | 3 | Gain | - |
EFHC2 | p.E202D | Missense | SNP | 0.587 | ND | ND | - |
EFNB3 | p.Q331Rfs*39 | Frame_Shift_Del | DEL | 0.546 | 2 | - | - |
EGR2 | - | - | - | - | 3 | Gain | - |
EHBP1L1 | p.R50H | Missense | SNP | 0.543 | 2 | - | - |
EIF3A | - | - | - | - | 3 | Gain | - |
EIF4EBP2 | - | - | - | - | 3 | Gain | - |
EIF4G3 | p.V563Sfs*12 | Frame_Shift_Ins | INS | 0.304 | 2 | - | - |
EIF5AL1 | - | - | - | - | 3 | Gain | - |
ELAC1 | - | - | - | - | 3 | Gain | - |
ELAC2 | p.A272T | Missense | SNP | 0.559 | 2 | - | - |
ELF4 | p.Q341Rfs*30 | Frame_Shift_Del | DEL | 0.464 | ND | ND | - |
ELMO1 | p.G674R | Missense | SNP | 0.569 | 2 | - | - |
ELOA2 | - | - | - | - | 3 | Gain | - |
ELOA3 | - | - | - | - | 3 | Gain | - |
ELOA3B | - | - | - | - | 3 | Gain | - |
ELOA3D | - | - | - | - | 3 | Gain | - |
ELOVL3 | - | - | - | - | 3 | Gain | - |
ELOVL7 | p.R115C | Missense | SNP | 0.548 | 2 | - | - |
ELP2 | - | - | - | - | 3 | Gain | - |
EMILIN2 | - | - | - | - | 3 | Gain | - |
EML6 | p.A1888T | Missense | SNP | 0.594 | 2 | - | - |
EMX2 | - | - | - | - | 3 | Gain | - |
ENKUR | - | - | - | - | 3 | Gain | - |
ENO4 | p.R551C | Missense | SNP | 0.387 | 3 | Gain | - |
ENOPH1 | p.X29_splice p.A120V | Splice_Site Missense | SNP SNP | 0.406 0.459 | 2 | - | - |
ENOSF1 | - | - | - | - | 3 | Gain | - |
ENPP6 | p.R35H | Missense | SNP | 0.457 | 2 | - | - |
ENTPD1 | - | - | - | - | 3 | Gain | - |
ENTPD6 | p.G444S | Missense | SNP | 0.523 | 2 | - | - |
ENTPD7 | - | - | - | - | 3 | Gain | - |
EPAS1 | p.P334S | Missense | SNP | 0.492 | 2 | - | - |
EPB41L3 | - | - | - | - | 3 | Gain | - |
EPC1 | - | - | - | - | 3 | Gain | - |
EPG5 | - | - | - | - | 3 | Gain | - |
EPHA2 | p.T526M | Missense | SNP | 0.445 | 2 | - | - |
EPPIN | p.Y107C | Missense | SNP | 0.414 | 2 | - | - |
ERBIN | p.D727Ifs*9 p.K988Rfs*24 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.522 0.449 | 2 | - | - |
ERCC6 | - | - | - | - | 3 | Gain | - |
ERCC8 | p.A7T | Missense | SNP | 0.469 | 2 | - | - |
ERICH3 | p.N557I | Missense | SNP | 0.516 | 2 | - | - |
ERLIN1 | - | - | - | - | 3 | Gain | - |
ESCO1 | - | - | - | - | 3 | Gain | - |
ESPL1 | p.A35V | Missense | SNP | 0.426 | 2 | - | - |
ETV1 | p.T139Hfs*24 | Frame_Shift_Ins | INS | 0.309 | 2 | - | - |
EVC2 | p.T699M | Missense | SNP | 0.507 | 2 | - | - |
EVI2A | p.A150V | Missense | SNP | 0.557 | 2 | - | - |
EXOC6 | - | - | - | - | 3 | Gain | - |
EXOSC1 | - | - | - | - | 3 | Gain | - |
EXPH5 | p.R407M | Missense | SNP | 0.466 | 2 | - | - |
EXTL1 | p.R31H | Missense | SNP | 0.458 | 2 | - | - |
EZH1 | p.A379V | Missense | SNP | 0.479 | 2 | - | - |
F13A1 | p.P565L | Missense | SNP | 0.553 | 2 | - | - |
FAAP100 | p.L21Pfs*12 | Frame_Shift_Ins | INS | 0.298 | 2 | - | - |
FAHD2A | p.P281Qfs*26 | Frame_Shift_Del | DEL | 0.292 | 2 | - | - |
FAM107B | - | - | - | - | 3 | Gain | - |
FAM111B | p.R94H | Missense | SNP | 0.540 | 2 | - | - |
FAM118B | p.L217F | Missense | SNP | 0.483 | 2 | - | - |
FAM129A | p.X392_splice | Splice_Site | SNP | 0.500 | 2 | - | - |
FAM135A | p.S1485L | Missense | SNP | 0.438 | 2 | - | - |
FAM13C | - | - | - | - | 3 | Gain | - |
FAM149B1 | - | - | - | - | 3 | Gain | - |
FAM160B1 | - | - | - | - | 3 | Gain | - |
FAM166A | p.L210R | Missense | SNP | 0.513 | 2 | - | - |
FAM170B | - | - | - | - | 3 | Gain | - |
FAM171A1 | - | - | - | - | 3 | Gain | - |
FAM175A | p.N303Ifs*17 | Frame_Shift_Del | DEL | 0.500 | ND | ND | - |
FAM186B | p.E667K | Missense | SNP | 0.496 | 2 | - | - |
FAM193A | p.V231Sfs*81 | Frame_Shift_Del | DEL | 0.374 | 2 | - | - |
FAM193B | p.P574Lfs*11 | Frame_Shift_Del | DEL | 0.416 | 2 | - | - |
FAM198B | p.R184W | Missense | SNP | 0.472 | 2 | - | - |
FAM204A | - | - | - | - | 3 | Gain | - |
FAM208B | - | - | - | - | 3 | Gain | - |
FAM210A | - | - | - | - | 3 | Gain | - |
FAM241B | - | - | - | - | 3 | Gain | - |
FAM24A | - | - | - | - | 3 | Gain | - |
FAM24B | - | - | - | - | 3 | Gain | - |
FAM45A | - | - | - | - | 3 | Gain | - |
FAM46B | p.R288W | Missense | SNP | 0.458 | ND | ND | - |
FAM47B | p.A360T | Missense | SNP | 0.472 | ND | ND | - |
FAM47C | p.A981T | Missense | SNP | 0.464 | ND | ND | - |
FAM53B | - | - | - | - | 3 | Gain | - |
FAM69C | - | - | - | - | 3 | Gain | - |
FAM71E2 | p.P40L | Missense | SNP | 0.508 | 2 | - | - |
FAM81B | p.G330C | Missense | SNP | 0.401 | 2 | - | - |
FAM98A | p.K174Nfs*2 | Frame_Shift_Del | DEL | 0.504 | 2 | - | - |
FANK1 | - | - | - | - | 3 | Gain | - |
FAS | - | - | - | - | 3 | Gain | - |
FAT1 | p.D2158Rfs*20 | Frame_Shift_Ins | INS | 0.348 | 2 | - | - |
FAT3 | p.R1186H | Missense | SNP | 0.627 | 2 | - | - |
FAT4 | p.A454V | Missense | SNP | 0.469 | 2 | - | - |
FBH1 | - | - | - | - | 3 | Gain | - |
FBLN2 | p.R1180C | Missense | SNP | 0.491 | 2 | - | - |
FBN2 | p.R1068W | Missense | SNP | 0.446 | 2 | - | - |
FBXL15 | - | - | - | - | 3 | Gain | - |
FBXL19 | p.L381Yfs*86 | Frame_Shift_Del | DEL | 0.382 | 2 | - | - |
FBXO15 | - | - | - | - | 3 | Gain | - |
FBXW4 | - | - | - | - | 3 | Gain | - |
FECH | - | - | - | - | 3 | Gain | - |
FER1L6 | p.I975T | Missense | SNP | 0.442 | 2 | - | - |
FFAR4 | - | - | - | - | 3 | Gain | - |
FGD4 | p.R431H | Missense | SNP | 0.530 | 2 | - | - |
FGF5 | p.G148Efs*45 | Frame_Shift_Del | DEL | 0.358 | 2 | - | - |
FGF6 | p.V127M | Missense | SNP | 0.492 | 2 | - | - |
FGF8 | - | - | - | - | 3 | Gain | - |
FGFBP3 | - | - | - | - | 3 | Gain | - |
FGFR2 | - | - | - | - | 3 | Gain | - |
FHAD1 | p.S26T | Missense | SNP | 0.455 | 2 | - | - |
FHOD1 | p.P585Lfs*43 | Frame_Shift_Del | DEL | 0.468 | 2 | - | - |
FHOD3 | - | - | - | - | 3 | Gain | - |
FLG | p.G2782D | Missense | SNP | 0.248 | 2 | - | - |
FLI1 | p.M348L | Missense | SNP | 0.526 | 2 | - | - |
FLNA | p.A1188V | Missense | SNP | 0.467 | ND | ND | - |
FLT4 | p.P619Lfs*20 p.P30L | Frame_Shift_Del Missense | DEL SNP | 0.499 0.446 | 2 | - | - |
FO681492.1 | - | - | - | - | 3 | Gain | - |
FOXI1 | p.R143C | Missense | SNP | 0.418 | 2 | - | - |
FOXI2 | p.A77T | Missense | SNP | 0.324 | 3 | Gain | - |
FOXP1 | p.L414* p.R36W | Frame_Shift_Del Missense | DEL SNP | 0.507 0.484 | 2 | - | - |
FRA10AC1 | p.R232Efs*96 | Frame_Shift_Del | DEL | 0.429 | 3 | Gain | - |
FRAT1 | - | - | - | - | 3 | Gain | - |
FRAT2 | - | - | - | - | 3 | Gain | - |
FREM1 | p.R507H | Missense | SNP | 0.500 | 2 | - | - |
FRG2B | - | - | - | - | 3 | Gain | - |
FRMD4A | - | - | - | - | 3 | Gain | - |
FRMPD2 | - | - | - | - | 3 | Gain | - |
FSIP2 | p.V5823Yfs*24 | Frame_Shift_Del | DEL | 0.415 | 2 | - | - |
FUOM | - | - | - | - | 3 | Gain | - |
FUT11 | - | - | - | - | 3 | Gain | - |
FUT5 | p.R14C | Missense | SNP | 0.473 | 2 | - | - |
FXYD4 | - | - | - | - | 3 | Gain | - |
FZD8 | - | - | - | - | 3 | Gain | - |
G6PC2 | p.R79Q | Missense | SNP | 0.502 | 2 | - | - |
GABRB3 | p.L170Pfs*11 | Frame_Shift_Ins | INS | 0.280 | 2 | - | - |
GABRP | p.R293H | Missense | SNP | 0.559 | 2 | - | - |
GAD2 | - | - | - | - | 3 | Gain | - |
GAL3ST1 | p.A387T | Missense | SNP | 0.414 | 2 | - | - |
GALNT1 | - | - | - | - | 3 | Gain | - |
GALR1 | - | - | - | - | 3 | Gain | - |
GAPT | p.P101L | Missense | SNP | 0.500 | 2 | - | - |
GAREM1 | - | - | - | - | 3 | Gain | - |
GATA3 | - | - | - | - | 3 | Gain | - |
GATA6 | - | - | - | - | 3 | Gain | - |
GBF1 | - | - | - | - | 3 | Gain | - |
GBGT1 | p.R243H | Missense | SNP | 0.482 | 2 | - | - |
GDAP1L1 | p.E199K | Missense | SNP | 0.496 | 2 | - | - |
GDF10 | - | - | - | - | 3 | Gain | - |
GDF2 | - | - | - | - | 3 | Gain | - |
GDF5 | p.R325C | Missense | SNP | 0.439 | 2 | - | - |
GDI2 | - | - | - | - | 3 | Gain | - |
GEM | p.R56Q | Missense | SNP | 0.433 | 2 | - | - |
GEMIN2 | p.K146Nfs*24 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
GFI1 | p.R275C | Missense | SNP | 0.092 | 2 | - | - |
GFOD1 | p.A335T | Missense | SNP | 0.529 | 2 | - | - |
GFRA1 | - | - | - | - | 3 | Gain | - |
GGA1 | p.P632Hfs*59 | Frame_Shift_Del | DEL | 0.441 | 2 | - | - |
GGN | p.A115V | Missense | SNP | 0.374 | 2 | - | - |
GHITM | - | - | - | - | 3 | Gain | - |
GIMAP8 | p.R81H | Missense | SNP | 0.516 | 2 | - | - |
GIPC1 | p.P50Lfs*48 | Frame_Shift_Del | DEL | 0.333 | 2 | - | - |
GJD4 | - | - | - | - | 3 | Gain | - |
GLOD4 | p.R50Q | Missense | SNP | 0.625 | 2 | - | - |
GLRX3 | - | - | - | - | 3 | Gain | - |
GLTSCR1 | p.E1438K | Missense | SNP | 0.471 | ND | ND | - |
GLUD1 | - | - | - | - | 3 | Gain | - |
GLYCTK | p.A481T | Missense | SNP | 0.514 | 2 | - | - |
GLYR1 | p.R381Afs*15 | Frame_Shift_Ins | INS | 0.321 | 2 | - | - |
GM2A | p.R169H | Missense | SNP | 0.469 | 2 | - | - |
GMEB1 | p.A499V | Missense | SNP | 0.495 | 2 | - | - |
GNAL | - | - | - | - | 3 | Gain | - |
GNB1L | p.V108M | Missense | SNP | 0.559 | 2 | - | - |
GNMT | p.D272N | Missense | SNP | 0.566 | 2 | - | - |
GOLGA4 | p.E727D | Missense | SNP | 0.396 | 2 | - | - |
GOLGA7B | - | - | - | - | 3 | Gain | - |
GOLPH3 | p.T148M | Missense | SNP | 0.449 | 2 | - | - |
GOT1 | - | - | - | - | 3 | Gain | - |
GPAA1 | p.X389_splice | Splice_Site | SNP | 0.506 | 2 | - | - |
GPAM | - | - | - | - | 3 | Gain | - |
GPI | p.E393Sfs*20 | Frame_Shift_Del | DEL | 0.487 | 2 | - | - |
GPR119 | p.A294T | Missense | SNP | 0.369 | ND | ND | - |
GPR158 | - | - | - | - | 3 | Gain | - |
GPR26 | - | - | - | - | 3 | Gain | - |
GPR34 | p.S62Cfs*23 | Frame_Shift_Del | DEL | 0.480 | ND | ND | - |
GPR85 | p.A311V | Missense | SNP | 0.467 | 2 | - | - |
GPRASP2 | p.T88M | Missense | SNP | 0.463 | ND | ND | - |
GPRIN2 | - | - | - | - | 3 | Gain | - |
GRB10 | p.A166T | Missense | SNP | 0.387 | 2 | - | - |
GREB1L | - | - | - | - | 3 | Gain | - |
GRID1 | - | - | - | - | 3 | Gain | - |
GRK5 | - | - | - | - | 3 | Gain | - |
GRP | - | - | - | - | 3 | Gain | - |
GSK3A | p.V133M | Missense | SNP | 0.529 | 2 | - | - |
GSTO1 | - | - | - | - | 3 | Gain | - |
GSTO2 | - | - | - | - | 3 | Gain | - |
GTPBP4 | - | - | - | - | 3 | Gain | - |
GUCY1B3 | p.L472I | Missense | SNP | 0.510 | ND | ND | - |
H2AFY2 | - | - | - | - | 3 | Gain | - |
HABP2 | - | - | - | - | 3 | Gain | - |
HACD1 | - | - | - | - | 3 | Gain | - |
HADHB | p.K474N | Missense | SNP | 0.416 | 2 | - | - |
HAUS1 | - | - | - | - | 3 | Gain | - |
HBE1 | p.A139V | Missense | SNP | 0.547 | 2 | - | - |
HCN3 | p.R502H | Missense | SNP | 0.559 | 2 | - | - |
HDAC5 | p.I933Lfs*14 | Frame_Shift_Del | DEL | 0.482 | 2 | - | - |
HDGF | p.S218Lfs*? | Frame_Shift_Del | DEL | 0.600 | 2 | - | - |
HDHD2 | - | - | - | - | 3 | Gain | - |
HDHD3 | p.Q92H | Missense | SNP | 0.556 | 2 | - | - |
HECTD1 | p.I2041Lfs*27 | Frame_Shift_Del | DEL | 0.423 | 2 | - | - |
HECTD2 | - | - | - | - | 3 | Gain | - |
HELLS | - | - | - | - | 3 | Gain | - |
HELZ | p.A149T | Missense | SNP | 0.440 | 2 | - | - |
HERC2 | p.A335T | Missense | SNP | 0.575 | 2 | - | - |
HERC4 | - | - | - | - | 3 | Gain | - |
HFE | p.L122M | Missense | SNP | 0.486 | 2 | - | - |
HHEX | - | - | - | - | 3 | Gain | - |
HIC2 | p.T549M | Missense | SNP | 0.438 | 2 | - | - |
HIF1AN | - | - | - | - | 3 | Gain | - |
HIST1H1E | - | - | - | - | 2 | - | AL355075.4--HIST1H1E |
HIST1H4C | p.T72I | Missense | SNP | 0.407 | 2 | - | - |
HK1 | p.T605M | Missense | SNP | 0.301 | 3 | Gain | - |
HKDC1 | - | - | - | - | 3 | Gain | - |
HLA-F | p.A203T | Missense | SNP | 0.491 | 2 | - | - |
HMSD | - | - | - | - | 3 | Gain | - |
HMX2 | - | - | - | - | 3 | Gain | - |
HMX3 | - | - | - | - | 3 | Gain | - |
HNRNPF | - | - | - | - | 3 | Gain | - |
HNRNPH3 | - | - | - | - | 3 | Gain | - |
HNRNPK | p.R268W | Missense | SNP | 0.454 | 2 | - | - |
HOGA1 | - | - | - | - | 3 | Gain | - |
HOXA11 | p.I299Lfs*30 | Frame_Shift_Del | DEL | 0.066 | 2 | - | - |
HOXA3 | p.Q302Pfs*42 | Frame_Shift_Ins | INS | 0.371 | 2 | - | - |
HPCA | p.R118Q | Missense | SNP | 0.531 | 2 | - | - |
HPS1 | p.M325Wfs*6 | Frame_Shift_Del | DEL | 0.253 | 3 | Gain | - |
HPS6 | - | - | - | - | 3 | Gain | - |
HPSE | p.F532Lfs*2 | Frame_Shift_Del | DEL | 0.509 | 2 | - | - |
HPSE2 | p.A315T | Missense | SNP | 0.286 | 3 | Gain | - |
HRAS | p.A18V | Missense | SNP | 0.492 | 2 | - | - |
HRG | p.R201L | Missense | SNP | 0.377 | 2 | - | - |
HRH4 | - | - | - | - | 3 | Gain | - |
HS3ST1 | p.R193H | Missense | SNP | 0.125 | 2 | - | - |
HS6ST2 | p.R94C | Missense | SNP | 0.473 | ND | ND | - |
HSBP1L1 | - | - | - | - | 3 | Gain | - |
HSPA12A | - | - | - | - | 3 | Gain | - |
HSPA14 | - | - | - | - | 3 | Gain | - |
HTR3A | p.S178L | Missense | SNP | 0.587 | 2 | - | - |
HTR7 | - | - | - | - | 3 | Gain | - |
HTRA1 | - | - | - | - | 3 | Gain | - |
HTT | p.R416H | Missense | SNP | 0.378 | 2 | - | - |
HUNK | p.E596K | Missense | SNP | 0.527 | 2 | - | - |
ICAM5 | p.R434H | Missense | SNP | 0.529 | 2 | - | - |
IDE | - | - | - | - | 3 | Gain | - |
IDH1 | p.R132H | Missense | SNP | 0.382 | 2 | - | - |
IDI1 | - | - | - | - | 3 | Gain | - |
IDI2 | - | - | - | - | 3 | Gain | - |
IER3IP1 | - | - | - | - | 3 | Gain | - |
IFIT1 | - | - | - | - | 3 | Gain | - |
IFIT1B | - | - | - | - | 3 | Gain | - |
IFIT2 | - | - | - | - | 3 | Gain | - |
IFIT3 | - | - | - | - | 3 | Gain | - |
IFIT5 | - | - | - | - | 3 | Gain | - |
IFNL2 | p.F137L p.R152W | Missense Missense | SNP SNP | 0.059 0.438 | 2 | - | - |
IGF1R | p.S915L | Missense | SNP | 0.563 | 2 | - | - |
IGF2BP1 | p.G541R | Missense | SNP | 0.565 | 2 | - | - |
IKZF5 | - | - | - | - | 3 | Gain | - |
IL15RA | - | - | - | - | 3 | Gain | - |
IL17RC | p.W167R | Missense | SNP | 0.538 | 2 | - | - |
IL17RD | p.A453V | Missense | SNP | 0.559 | 2 | - | - |
IL2RA | - | - | - | - | 3 | Gain | - |
IL31RA | p.G534Efs*7 | Frame_Shift_Del | DEL | 0.455 | 2 | - | - |
ILKAP | p.S202Qfs*52 | Frame_Shift_Del | DEL | 0.349 | 2 | - | - |
IMPA2 | - | - | - | - | 3 | Gain | - |
IMPACT | - | - | - | - | 3 | Gain | - |
INA | - | - | - | - | 3 | Gain | - |
INO80C | - | - | - | - | 3 | Gain | - |
INPP5A | - | - | - | - | 3 | Gain | - |
INPP5F | - | - | - | - | 3 | Gain | - |
INSM2 | p.H309N | Missense | SNP | 0.536 | 2 | - | - |
INSYN2 | - | - | - | - | 3 | Gain | - |
INTS5 | p.S1010del | In_Frame_Del | DEL | 0.518 | 2 | - | - |
INTS6L | p.R305Q | Missense | SNP | 0.538 | ND | ND | - |
INVS | p.N1061Kfs*20 | Frame_Shift_Ins | INS | 0.304 | 2 | - | - |
IPMK | - | - | - | - | 3 | Gain | - |
IRF8 | p.S34I | Missense | SNP | 0.507 | 2 | - | - |
IRGC | p.V89I | Missense | SNP | 0.440 | 2 | - | - |
IRS1 | p.R998Vfs*13 | Frame_Shift_Del | DEL | 0.408 | 2 | - | - |
ISL2 | p.G173E | Missense | SNP | 0.513 | 2 | - | - |
ISM1 | p.A412V | Missense | SNP | 0.511 | 2 | - | - |
ITGA8 | - | - | - | - | 3 | Gain | - |
ITGAV | p.X283_splice | Splice_Site | SNP | 0.533 | 2 | - | - |
ITGAX | p.R426Afs*20 | Frame_Shift_Del | DEL | 0.453 | 2 | - | - |
ITGB1 | - | - | - | - | 3 | Gain | - |
ITIH2 | - | - | - | - | 3 | Gain | - |
ITIH5 | - | - | - | - | 3 | Gain | - |
ITPRIP | - | - | - | - | 3 | Gain | - |
JAK1 | p.P430Rfs*2 p.R997W p.R108Q | Frame_Shift_Del Missense Missense | DEL SNP SNP | 0.485 0.459 0.466 | 2 | - | - |
JAKMIP3 | - | - | - | - | 3 | Gain | - |
JCAD | - | - | - | - | 3 | Gain | - |
JMJD1C | - | - | - | - | 3 | Gain | - |
JPH2 | p.A595V | Missense | SNP | 0.526 | 2 | - | - |
KANK3 | p.D792N | Missense | SNP | 0.438 | 2 | - | - |
KAT6B | - | - | - | - | 3 | Gain | - |
KATNA1 | p.A428V | Missense | SNP | 0.558 | 2 | - | - |
KATNAL2 | - | - | - | - | 3 | Gain | - |
KAZALD1 | - | - | - | - | 3 | Gain | - |
KBTBD13 | p.T162M | Missense | SNP | 0.505 | 2 | - | - |
KCNC1 | p.K457Rfs*20 | Frame_Shift_Del | DEL | 0.436 | 2 | - | - |
KCNC4 | p.R413W | Missense | SNP | 0.530 | 2 | - | - |
KCNG2 | - | - | - | - | 3 | Gain | - |
KCNH2 | p.W497* p.R472H | Nonsense Missense | SNP SNP | 0.407 0.434 | 2 | - | - |
KCNH5 | p.V58I | Missense | SNP | 0.580 | 2 | - | - |
KCNIP2 | - | - | - | - | 3 | Gain | - |
KCNJ4 | p.P433L | Missense | SNP | 0.526 | 2 | - | - |
KCNK15 | p.R259H | Missense | SNP | 0.359 | 2 | - | - |
KCNK18 | - | - | - | - | 3 | Gain | - |
KCNMA1 | - | - | - | - | 3 | Gain | - |
KCTD1 | - | - | - | - | 3 | Gain | - |
KCTD10 | p.R308Q | Missense | SNP | 0.406 | 2 | - | - |
KCTD18 | p.S301R | Missense | SNP | 0.545 | 2 | - | - |
KCTD8 | p.L209R | Missense | SNP | 0.400 | 2 | - | - |
KDM4C | p.Y1011Mfs*16 | Frame_Shift_Del | DEL | 0.448 | 2 | - | - |
KDM5A | p.G1200Dfs*9 p.R674Q | Frame_Shift_Del Missense | DEL SNP | 0.456 0.419 | 2 | - | - |
KDSR | - | - | - | - | 3 | Gain | - |
KIAA1161 | p.R673H | Missense | SNP | 0.503 | ND | ND | - |
KIAA1217 | p.R976Gfs*16 p.A233T | Frame_Shift_Del Missense | DEL SNP | 0.625 0.349 | 3 | Gain | - |
KIAA1328 | - | - | - | - | 3 | Gain | - |
KIAA1522 | p.A247T | Missense | SNP | 0.429 | 2 | - | - |
KIAA1549 | p.L283* | Frame_Shift_Del | DEL | 0.411 | 2 | - | - |
KIAA1614 | p.P50Qfs*15 | Frame_Shift_Del | DEL | 0.408 | 2 | - | - |
KIAA2026 | p.K740Nfs*16 | Frame_Shift_Del | DEL | 0.387 | 2 | - | - |
KIF11 | - | - | - | - | 3 | Gain | - |
KIF13A | p.A364T | Missense | SNP | 0.509 | 2 | - | - |
KIF1BP | - | - | - | - | 3 | Gain | - |
KIF20B | - | - | - | - | 3 | Gain | - |
KIF21B | p.V33I | Missense | SNP | 0.409 | 2 | - | - |
KIF27 | p.A1067V | Missense | SNP | 0.482 | 2 | - | - |
KIF5B | - | - | - | - | 3 | Gain | - |
KIN | - | - | - | - | 3 | Gain | - |
KLF6 | - | - | - | - | 3 | Gain | - |
KLHL1 | p.G35Efs*31 | Frame_Shift_Del | DEL | 0.429 | 2 | - | - |
KLHL14 | - | - | - | - | 3 | Gain | - |
KLHL23 | p.C126Lfs*2 | Frame_Shift_Ins | INS | 0.312 | 2 | - | - |
KLHL29 | p.Y227C | Missense | SNP | 0.541 | 2 | - | - |
KLHL42 | p.C399Vfs*44 | Frame_Shift_Del | DEL | 0.420 | 2 | - | - |
KLK15 | p.R130C | Missense | SNP | 0.543 | 2 | - | - |
KLLN | - | - | - | - | 3 | Gain | - |
KMT2B | p.R1400C | Missense | SNP | 0.509 | 2 | - | - |
KMT2C | p.S143Vfs*3 p.P1838H | Frame_Shift_Del Missense | DEL SNP | 0.476 0.451 | 2 | - | - |
KMT2D | p.P2354Lfs*30 p.R5086* p.A4599V | Frame_Shift_Del Nonsense Missense | DEL SNP SNP | 0.507 0.470 0.364 | 2 | - | - |
KMT2E | p.M1354* | Frame_Shift_Del | DEL | 0.479 | 2 | - | - |
KNDC1 | p.Q1704* | Nonsense | SNP | 0.642 | 3 | Gain | - |
KRBOX1 | p.Q77Sfs*6 | Frame_Shift_Del | DEL | 0.551 | 2 | - | - |
KRT34 | p.R376W | Missense | SNP | 0.479 | 2 | - | - |
KYAT3 | p.I153T | Missense | SNP | 0.490 | 2 | - | - |
L1CAM | p.P90H | Missense | SNP | 0.473 | ND | ND | - |
L3MBTL4 | - | - | - | - | 3 | Gain | - |
LAMA1 | p.N496Tfs*27 | Frame_Shift_Del | DEL | 0.336 | 3 | Gain | - |
LAMA3 | p.R1841H | Missense | SNP | 0.652 | 3 | Gain | - |
LAMC3 | p.R152H | Missense | SNP | 0.531 | 2 | - | - |
LARP4B | - | - | - | - | 3 | Gain | - |
LBX1 | - | - | - | - | 3 | Gain | - |
LCLAT1 | p.N222Mfs*21 | Frame_Shift_Del | DEL | 0.525 | 2 | - | - |
LCOR | - | - | - | - | 3 | Gain | - |
LCT | p.A952T | Missense | SNP | 0.578 | 2 | - | - |
LDB1 | - | - | - | - | 3 | Gain | - |
LDB3 | - | - | - | - | 3 | Gain | - |
LDLRAD4 | - | - | - | - | 3 | Gain | - |
LEFTY2 | p.P286Rfs*41 | Frame_Shift_Del | DEL | 0.467 | 2 | - | - |
LEP | p.G8R | Missense | SNP | 0.534 | 2 | - | - |
LGI1 | - | - | - | - | 3 | Gain | - |
LGR4 | p.R304C | Missense | SNP | 0.445 | 2 | - | - |
LHPP | - | - | - | - | 3 | Gain | - |
LHX2 | p.T374Pfs*5 | Frame_Shift_Del | DEL | 0.505 | 2 | - | - |
LHX9 | p.R271* | Nonsense | SNP | 0.513 | 2 | - | - |
LILRA2 | p.P287L | Missense | SNP | 0.410 | 2 | - | - |
LIMA1 | p.T537Lfs*38 | Frame_Shift_Del | DEL | 0.408 | 2 | - | - |
LIPA | - | - | - | - | 3 | Gain | - |
LIPE | p.E943D | Missense | SNP | 0.504 | 2 | - | - |
LIPF | - | - | - | - | 3 | Gain | - |
LIPG | - | - | - | - | 3 | Gain | - |
LIPJ | - | - | - | - | 3 | Gain | - |
LIPK | - | - | - | - | 3 | Gain | - |
LIPM | - | - | - | - | 3 | Gain | - |
LIPN | - | - | - | - | 3 | Gain | - |
LMAN1 | - | - | - | - | 3 | Gain | - |
LOXHD1 | - | - | - | - | 3 | Gain | - |
LOXL3 | p.R148C | Missense | SNP | 0.545 | 2 | - | - |
LOXL4 | p.E431D | Missense | SNP | 0.298 | 3 | Gain | - |
LPA | p.R1464Q | Missense | SNP | 0.500 | 2 | - | - |
LPAR5 | p.R78C | Missense | SNP | 0.465 | 2 | - | - |
LPIN2 | - | - | - | - | 3 | Gain | - |
LPO | p.G515Afs*9 | Frame_Shift_Del | DEL | 0.548 | 2 | - | - |
LRBA | p.R1992Q | Missense | SNP | 0.457 | 2 | - | - |
LRFN2 | p.T500M | Missense | SNP | 0.109 | 2 | - | - |
LRIT1 | - | - | - | - | 3 | Gain | - |
LRIT2 | - | - | - | - | 3 | Gain | - |
LRMDA | - | - | - | - | 3 | Gain | - |
LRP1 | p.L3628Cfs*155 p.R1628H | Frame_Shift_Del Missense | DEL SNP | 0.472 0.476 | 2 | - | - |
LRP1B | p.G1820E p.V73A | Missense Missense | SNP SNP | 0.560 0.535 | 2 | - | - |
LRRC18 | - | - | - | - | 3 | Gain | - |
LRRC20 | - | - | - | - | 3 | Gain | - |
LRRC27 | - | - | - | - | 3 | Gain | - |
LRRC30 | - | - | - | - | 3 | Gain | - |
LRRC37A | - | - | - | - | 1 | Loss | - |
LRRC37A2 | - | - | - | - | 1 | Loss | - |
LRRC3B | p.T201Lfs*17 | Frame_Shift_Del | DEL | 0.479 | 2 | - | - |
LRRC46 | p.P282H | Missense | SNP | 0.530 | 2 | - | - |
LRRC53 | p.N547Ifs*12 | Frame_Shift_Del | DEL | 0.116 | 2 | - | - |
LRRIQ3 | p.K244Nfs*17 | Frame_Shift_Del | DEL | 0.415 | 2 | - | - |
LRRTM3 | - | - | - | - | 3 | Gain | - |
LYST | p.R3449Q | Missense | SNP | 0.430 | 2 | - | - |
LYZL1 | p.G102S | Missense | SNP | 0.297 | 3 | Gain | - |
LYZL2 | - | - | - | - | 3 | Gain | - |
LZTR1 | p.A392V | Missense | SNP | 0.462 | 2 | - | - |
LZTS1 | p.P108S | Missense | SNP | 0.482 | 2 | - | - |
LZTS2 | - | - | - | - | 3 | Gain | - |
MACF1 | p.R4914H | Missense | SNP | 0.496 | 2 | - | - |
MAGEB6 | p.G130D | Missense | SNP | 0.769 | ND | ND | - |
MAGEC3 | p.V585I | Missense | SNP | 0.503 | ND | ND | - |
MAGED2 | p.X362_splice | Splice_Site | SNP | 0.498 | ND | ND | - |
MALRD1 | - | - | - | - | 3 | Gain | - |
MALT1 | - | - | - | - | 3 | Gain | - |
MAOA | p.R454* | Nonsense | SNP | 0.600 | ND | ND | - |
MAP1S | p.S595* p.D296N | Frame_Shift_Ins Missense | INS SNP | 0.346 0.610 | 2 | - | - |
MAP3K7CL | p.A16T | Missense | SNP | 0.498 | 2 | - | - |
MAP3K8 | - | - | - | - | 3 | Gain | - |
MAP4K3 | p.G190Vfs*16 | Frame_Shift_Del | DEL | 0.460 | 2 | - | - |
MAPK4 | - | - | - | - | 3 | Gain | - |
MAPK8 | - | - | - | - | 3 | Gain | - |
MAPK8IP2 | p.R461* | Nonsense | SNP | 0.404 | 2 | - | - |
MAPKAPK3 | p.R31Afs*47 | Frame_Shift_Ins | INS | 0.250 | 2 | - | - |
MAPRE2 | - | - | - | - | 3 | Gain | - |
MARCH5 | - | - | - | - | 3 | Gain | - |
MARCH8 | - | - | - | - | 3 | Gain | - |
MARCKS | p.A328Sfs*14 | Frame_Shift_Ins | INS | 0.326 | 2 | - | - |
MARVELD1 | - | - | - | - | 3 | Gain | - |
MAST1 | p.G1280D | Missense | SNP | 0.476 | 2 | - | - |
MASTL | - | - | - | - | 3 | Gain | - |
MAT1A | - | - | - | - | 3 | Gain | - |
MATN4 | p.R394H | Missense | SNP | 0.474 | 2 | - | - |
MAZ | p.F14Lfs*34 | Frame_Shift_Ins | INS | 0.330 | 2 | - | - |
MBD1 | - | - | - | - | 3 | Gain | - |
MBD2 | - | - | - | - | 3 | Gain | - |
MBL2 | - | - | - | - | 3 | Gain | - |
MBP | - | - | - | - | 3 | Gain | - |
MBTPS1 | p.G751R | Missense | SNP | 0.488 | 2 | - | - |
MC2R | - | - | - | - | 3 | Gain | - |
MC4R | - | - | - | - | 3 | Gain | - |
MC5R | - | - | - | - | 3 | Gain | - |
MCCC1 | p.A670V | Missense | SNP | 0.511 | 2 | - | - |
MCHR2 | p.R140* | Nonsense | SNP | 0.486 | 2 | - | - |
MCM10 | - | - | - | - | 3 | Gain | - |
MCM4 | p.T629Qfs*18 | Frame_Shift_Del | DEL | 0.574 | 2 | - | - |
MCM5 | p.R114Q | Missense | SNP | 0.453 | 2 | - | - |
MCMBP | - | - | - | - | 3 | Gain | - |
MCPH1 | p.T468Pfs*32 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
MCTP1 | p.F877Ifs*4 | Frame_Shift_Ins | INS | 0.265 | 2 | - | - |
MCU | - | - | - | - | 3 | Gain | - |
ME2 | - | - | - | - | 3 | Gain | - |
MEFV | p.A507T | Missense | SNP | 0.389 | 2 | - | - |
MEGF6 | p.A1440Hfs*78 | Frame_Shift_Del | DEL | 0.431 | 2 | - | - |
MEIG1 | - | - | - | - | 3 | Gain | - |
MEP1B | - | - | - | - | 3 | Gain | - |
MESDC1 | p.A72T | Missense | SNP | 0.449 | ND | ND | - |
MEST | p.R167Q | Missense | SNP | 0.472 | 2 | - | - |
METTL4 | - | - | - | - | 3 | Gain | - |
METTL9 | p.L110M | Missense | SNP | 0.417 | 2 | - | - |
MEX3B | p.Y55Rfs*21 | Frame_Shift_Del | DEL | 0.491 | 2 | - | - |
MEX3C | - | - | - | - | 3 | Gain | - |
MFSD1 | p.R58W | Missense | SNP | 0.472 | 2 | - | - |
MFSD13A | - | - | - | - | 3 | Gain | - |
MFSD4B | p.C202Vfs*4 | Frame_Shift_Del | DEL | 0.505 | 2 | - | - |
MGMT | - | - | - | - | 3 | Gain | - |
MIB1 | - | - | - | - | 3 | Gain | - |
MICAL1 | p.G115R | Missense | SNP | 0.613 | 2 | - | - |
MICAL3 | p.R1405Gfs*33 | Frame_Shift_Del | DEL | 0.543 | 2 | - | - |
MICALCL | p.S51Afs*49 p.R261Q | Frame_Shift_Del Missense | DEL SNP | 0.492 0.494 | ND | ND | - |
MICU1 | p.R263C | Missense | SNP | 0.331 | 3 | Gain | - |
MICU3 | p.R5* | Nonsense | SNP | 0.521 | 2 | - | - |
MINDY3 | - | - | - | - | 3 | Gain | - |
MINPP1 | - | - | - | - | 3 | Gain | - |
MISP | p.G116R | Missense | SNP | 0.486 | 2 | - | - |
MKI67 | - | - | - | - | 3 | Gain | - |
MKX | - | - | - | - | 3 | Gain | - |
MLC1 | p.L217M | Missense | SNP | 0.522 | 2 | - | - |
MLLT10 | - | - | - | - | 3 | Gain | - |
MLLT3 | p.R556C | Missense | SNP | 0.555 | 2 | - | - |
MLLT4 | p.R1577C | Missense | SNP | 0.524 | ND | ND | - |
MLNR | p.G268R | Missense | SNP | 0.516 | 2 | - | - |
MLXIP | p.R214C p.A498T | Missense Missense | SNP SNP | 0.453 0.439 | 2 | - | - |
MMP21 | - | - | - | - | 3 | Gain | - |
MMRN2 | - | - | - | - | 3 | Gain | - |
MMS19 | - | - | - | - | 3 | Gain | - |
MOCOS | - | - | - | - | 3 | Gain | - |
MOGAT1 | p.G112E | Missense | SNP | 0.496 | 2 | - | - |
MORF4L1 | p.A252V | Missense | SNP | 0.424 | 2 | - | - |
MORN4 | - | - | - | - | 3 | Gain | - |
MPP7 | - | - | - | - | 3 | Gain | - |
MPPE1 | p.E83Gfs*40 | Frame_Shift_Ins | INS | 0.243 | 3 | Gain | - |
MRC1 | - | - | - | - | 3 | Gain | - |
MRO | - | - | - | - | 3 | Gain | - |
MRPL43 | - | - | - | - | 3 | Gain | - |
MRPS16 | - | - | - | - | 3 | Gain | - |
MSMB | - | - | - | - | 3 | Gain | - |
MSRB2 | - | - | - | - | 3 | Gain | - |
MSS51 | - | - | - | - | 3 | Gain | - |
MST1R | p.V898M | Missense | SNP | 0.480 | 2 | - | - |
MTA1 | p.R682C | Missense | SNP | 0.587 | 2 | - | - |
MTCL1 | - | - | - | - | 3 | Gain | - |
MTG1 | - | - | - | - | 3 | Gain | - |
MTPAP | - | - | - | - | 3 | Gain | - |
MTSS1L | p.G560Afs*34 | Frame_Shift_Del | DEL | 0.518 | 2 | - | - |
MUC15 | p.K20Nfs*12 | Frame_Shift_Del | DEL | 0.410 | 2 | - | - |
MUC21 | p.H538Tfs*18 | Frame_Shift_Del | DEL | 0.465 | 2 | - | - |
MUC5AC | p.M5088I | Missense | SNP | 0.513 | 2 | - | - |
MUC5B | p.P3687L | Missense | SNP | 0.317 | 2 | - | - |
MXI1 | - | - | - | - | 3 | Gain | - |
MXRA8 | p.R301Gfs*107 | Frame_Shift_Del | DEL | 0.559 | 2 | - | - |
MYADM | p.A220T | Missense | SNP | 0.465 | 2 | - | - |
MYCBP2 | p.G3497* | Nonsense | SNP | 0.484 | 2 | - | - |
MYCT1 | p.E66* | Nonsense | SNP | 0.394 | 2 | - | - |
MYEOV | p.W272Gfs*66 | Frame_Shift_Del | DEL | 0.464 | 2 | - | - |
MYH10 | p.Q886R | Missense | SNP | 0.509 | 2 | - | - |
MYH11 | p.A649T | Missense | SNP | 0.377 | 2 | - | - |
MYH9 | p.L812I | Missense | SNP | 0.482 | 2 | - | - |
MYL12A | - | - | - | - | 3 | Gain | - |
MYL12B | - | - | - | - | 3 | Gain | - |
MYL7 | p.Q79R | Missense | SNP | 0.502 | 2 | - | - |
MYO1G | p.R37C | Missense | SNP | 0.368 | 2 | - | - |
MYO3A | - | - | - | - | 3 | Gain | - |
MYO5A | p.I1440Lfs*4 | Frame_Shift_Del | DEL | 0.453 | 2 | - | - |
MYO5B | - | - | - | - | 3 | Gain | - |
MYO7B | p.P107L | Missense | SNP | 0.458 | 2 | - | - |
MYOF | p.I1430V | Missense | SNP | 0.324 | 3 | Gain | - |
MYOG | p.S77P | Missense | SNP | 0.505 | 2 | - | - |
MYOM1 | - | - | - | - | 3 | Gain | - |
MYOM3 | p.E1430K | Missense | SNP | 0.511 | 2 | - | - |
MYOZ1 | - | - | - | - | 3 | Gain | - |
MYPN | p.I891* | Frame_Shift_Del | DEL | 0.304 | 3 | Gain | - |
MZT2B | - | - | - | - | 1 | Loss | - |
NAA35 | p.K567Rfs*6 | Frame_Shift_Del | DEL | 0.361 | 2 | - | - |
NADSYN1 | p.V454I | Missense | SNP | 0.446 | 2 | - | - |
NANOS1 | - | - | - | - | 3 | Gain | - |
NAP1L5 | p.A32V | Missense | SNP | 0.469 | 2 | - | - |
NAPG | - | - | - | - | 3 | Gain | - |
NARS | p.V536M | Missense | SNP | 0.366 | 3 | Gain | - |
NBPF1 | p.A354V | Missense | SNP | 0.058 | 2 | - | - |
NCAPD3 | p.R834H | Missense | SNP | 0.447 | 2 | - | - |
NCKIPSD | p.F631del | In_Frame_Del | DEL | 0.422 | 2 | - | - |
NCOA2 | p.V1419M | Missense | SNP | 0.493 | 2 | - | - |
NCOA3 | p.Q78* | Nonsense | SNP | 0.562 | 2 | - | - |
NCOA4 | - | - | - | - | 3 | Gain | - |
NDC80 | p.T571M | Missense | SNP | 0.594 | 3 | Gain | - |
NDST2 | p.L191Yfs*12 | Frame_Shift_Del | DEL | 0.218 | 3 | Gain | - |
NDUFB8 | - | - | - | - | 3 | Gain | - |
NDUFS7 | p.A187T | Missense | SNP | 0.432 | 2 | - | - |
NDUFV2 | - | - | - | - | 3 | Gain | - |
NEBL | - | - | - | - | 3 | Gain | - |
NEDD4L | p.N156Mfs*51 | Frame_Shift_Del | DEL | 0.632 | 3 | Gain | - |
NEK1 | p.D1179Y | Missense | SNP | 0.473 | 2 | - | - |
NEK4 | p.R743W | Missense | SNP | 0.461 | 2 | - | - |
NET1 | - | - | - | - | 3 | Gain | - |
NETO1 | - | - | - | - | 3 | Gain | - |
NEURL1 | - | - | - | - | 3 | Gain | - |
NEURL1B | p.R533Q | Missense | SNP | 0.485 | 2 | - | - |
NEURL4 | p.L1256Cfs*12 p.E504Rfs*38 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.423 0.082 | 2 | - | - |
NEUROD6 | p.K83Rfs*35 | Frame_Shift_Del | DEL | 0.479 | 2 | - | - |
NEUROG3 | - | - | - | - | 3 | Gain | - |
NFATC1 | - | - | - | - | 3 | Gain | - |
NFE2 | p.R300Q | Missense | SNP | 0.517 | 2 | - | - |
NFKB2 | - | - | - | - | 3 | Gain | - |
NHLRC2 | - | - | - | - | 3 | Gain | - |
NHSL2 | p.S123L | Missense | SNP | 0.446 | ND | ND | - |
NIPAL3 | p.R133C | Missense | SNP | 0.522 | 2 | - | - |
NKAPL | p.R127Dfs*8 | Frame_Shift_Del | DEL | 0.472 | 2 | - | - |
NKTR | p.N766Ifs*30 | Frame_Shift_Del | DEL | 0.374 | 2 | - | - |
NKX1-2 | - | - | - | - | 3 | Gain | - |
NKX2-1 | p.A201V | Missense | SNP | 0.573 | 2 | - | - |
NKX2-3 | - | - | - | - | 3 | Gain | - |
NKX6-2 | - | - | - | - | 3 | Gain | - |
NLRC5 | p.R1500W | Missense | SNP | 0.564 | 2 | - | - |
NLRP2 | p.R587Q | Missense | SNP | 0.458 | 2 | - | - |
NLRP8 | p.E619G | Missense | SNP | 0.577 | 2 | - | - |
NMT2 | - | - | - | - | 3 | Gain | - |
NOC3L | - | - | - | - | 3 | Gain | - |
NODAL | - | - | - | - | 3 | Gain | - |
NOL4 | - | - | - | - | 3 | Gain | - |
NOLC1 | - | - | - | - | 3 | Gain | - |
NOS2 | p.R670H | Missense | SNP | 0.516 | 2 | - | - |
NOTCH1 | p.Q462* | Nonsense | SNP | 0.518 | 2 | - | - |
NOVA1 | p.K210N | Missense | SNP | 0.509 | 2 | - | - |
NPC1 | p.D466N | Missense | SNP | 0.309 | 3 | Gain | - |
NPFFR1 | - | - | - | - | 3 | Gain | - |
NPM3 | - | - | - | - | 3 | Gain | - |
NPRL3 | p.Y531H | Missense | SNP | 0.491 | 2 | - | - |
NPS | - | - | - | - | 3 | Gain | - |
NPY4R | - | - | - | - | 3 | Gain | - |
NPY4R2 | - | - | - | - | 3 | Gain | - |
NR2F1 | p.N263D | Missense | SNP | 0.514 | 2 | - | - |
NR3C2 | p.V618A | Missense | SNP | 0.437 | 2 | - | - |
NRAP | p.A539V | Missense | SNP | 0.385 | 3 | Gain | - |
NRBF2 | - | - | - | - | 3 | Gain | - |
NRG1 | p.E79* | Nonsense | SNP | 0.495 | 2 | - | - |
NRG3 | - | - | - | - | 3 | Gain | - |
NRK | p.Q410H p.Q809R | Missense Missense | SNP SNP | 0.481 0.528 | ND | ND | - |
NRP1 | - | - | - | - | 3 | Gain | - |
NSD1 | p.M1531Cfs*43 | Frame_Shift_Del | DEL | 0.378 | 2 | - | - |
NSF | - | - | - | - | 1 | Loss | - |
NSMCE1 | p.V27M | Missense | SNP | 0.475 | 2 | - | - |
NSMCE4A | - | - | - | - | 3 | Gain | - |
NSUN6 | - | - | - | - | 3 | Gain | - |
NT5C2 | - | - | - | - | 3 | Gain | - |
NTNG2 | p.G144S | Missense | SNP | 0.524 | 2 | - | - |
NTRK1 | p.R347H | Missense | SNP | 0.511 | 2 | - | - |
NUDT13 | - | - | - | - | 3 | Gain | - |
NUDT5 | - | - | - | - | 3 | Gain | - |
NUP133 | p.K968del | In_Frame_Del | DEL | 0.513 | 2 | - | - |
NXN | p.A140T | Missense | SNP | 0.490 | 2 | - | - |
NXPH4 | p.G210Afs*166 | Frame_Shift_Del | DEL | 0.439 | 2 | - | - |
OAT | - | - | - | - | 3 | Gain | - |
OBSCN | p.G2909E | Missense | SNP | 0.542 | 2 | - | - |
OGA | - | - | - | - | 3 | Gain | - |
OGDHL | - | - | - | - | 3 | Gain | - |
OIT3 | - | - | - | - | 3 | Gain | - |
OLAH | - | - | - | - | 3 | Gain | - |
ONECUT2 | - | - | - | - | 3 | Gain | - |
OPALIN | - | - | - | - | 3 | Gain | - |
OPN4 | - | - | - | - | 3 | Gain | - |
OPRK1 | p.G13D | Missense | SNP | 0.611 | 2 | - | - |
OPTN | - | - | - | - | 3 | Gain | - |
OR10C1 | p.A231V | Missense | SNP | 0.454 | 2 | - | - |
OR13A1 | - | - | - | - | 3 | Gain | - |
OR13C3 | p.A149T | Missense | SNP | 0.450 | 2 | - | - |
OR13H1 | p.R298W | Missense | SNP | 0.439 | ND | ND | - |
OR14C36 | p.F105Lfs*28 | Frame_Shift_Del | DEL | 0.414 | 2 | - | - |
OR1A2 | p.R122* | Nonsense | SNP | 0.503 | 2 | - | - |
OR1S2 | p.I26T | Missense | SNP | 0.524 | 2 | - | - |
OR2J2 | p.N6Mfs*21 | Frame_Shift_Del | DEL | 0.398 | 2 | - | - |
OR4C12 | p.R258C | Missense | SNP | 0.556 | 2 | - | - |
OR4D6 | p.T241M | Missense | SNP | 0.484 | 2 | - | - |
OR4D9 | p.S116C | Missense | SNP | 0.561 | 2 | - | - |
OR4L1 | p.K228Nfs*55 | Frame_Shift_Del | DEL | 0.393 | 2 | - | - |
OR51B5 | p.M63I | Missense | SNP | 0.435 | 2 | - | - |
OR6C75 | p.R221W | Missense | SNP | 0.458 | 2 | - | - |
OR6N1 | p.R165C | Missense | SNP | 0.466 | 2 | - | - |
OR8K3 | p.F311Lfs*? | Frame_Shift_Del | DEL | 0.388 | 2 | - | - |
ORMDL3 | p.G21D | Missense | SNP | 0.569 | 2 | - | - |
OSBPL1A | - | - | - | - | 3 | Gain | - |
OSBPL2 | p.I182Sfs*68 | Frame_Shift_Del | DEL | 0.116 | 2 | - | - |
OTUD1 | - | - | - | - | 3 | Gain | - |
OTUD4 | p.E908Nfs*5 | Frame_Shift_Del | DEL | 0.398 | 2 | - | - |
P2RX5 | p.Y338C | Missense | SNP | 0.516 | 2 | - | - |
P3H2 | p.K430Sfs*6 | Frame_Shift_Del | DEL | 0.470 | 2 | - | - |
P4HA1 | - | - | - | - | 3 | Gain | - |
P4HTM | p.L416Cfs*6 | Frame_Shift_Del | DEL | 0.509 | 2 | - | - |
PALD1 | - | - | - | - | 3 | Gain | - |
PANK1 | - | - | - | - | 3 | Gain | - |
PAOX | - | - | - | - | 3 | Gain | - |
PAPSS2 | - | - | - | - | 3 | Gain | - |
PARD3 | - | - | - | - | 3 | Gain | - |
PARD3B | p.R932G | Missense | SNP | 0.550 | 2 | - | - |
PARD6G | - | - | - | - | 3 | Gain | - |
PARG | - | - | - | - | 3 | Gain | - |
PARP9 | p.A55T | Missense | SNP | 0.400 | 2 | - | - |
PAX2 | - | - | - | - | 3 | Gain | - |
PAX7 | p.A259V | Missense | SNP | 0.562 | 2 | - | - |
PBLD | - | - | - | - | 3 | Gain | - |
PBX1 | p.G124R | Missense | SNP | 0.482 | 2 | - | - |
PC | p.R453Q | Missense | SNP | 0.432 | 2 | - | - |
PCBD1 | - | - | - | - | 3 | Gain | - |
PCDH12 | p.L685Yfs*7 | Frame_Shift_Del | DEL | 0.475 | 2 | - | - |
PCDH15 | p.K1416N | Missense | SNP | 0.120 | 3 | Gain | - |
PCDHA2 | p.A2V | Missense | SNP | 0.428 | 2 | - | - |
PCDHA4 | p.A686T | Missense | SNP | 0.527 | 2 | - | - |
PCDHA6 | p.R428W | Missense | SNP | 0.531 | 2 | - | - |
PCDHB16 | p.I142Yfs*7 | Frame_Shift_Del | DEL | 0.447 | 2 | - | - |
PCDHB4 | p.G536S | Missense | SNP | 0.439 | 2 | - | - |
PCDHGA3 | p.A578V | Missense | SNP | 0.424 | 2 | - | - |
PCGF5 | - | - | - | - | 3 | Gain | - |
PCGF6 | - | - | - | - | 3 | Gain | - |
PCK1 | p.I612Rfs*5 | Frame_Shift_Ins | INS | 0.278 | 2 | - | - |
PCLO | p.L2443Vfs*15 p.T1689Qfs*16 p.S3436G p.S1052L | Frame_Shift_Ins Frame_Shift_Del Missense Missense | INS DEL SNP SNP | 0.259 0.479 0.495 0.483 | 2 | - | - |
PCNX1 | p.E466K | Missense | SNP | 0.469 | 2 | - | - |
PCSK1N | p.A31Rfs*7 | Frame_Shift_Del | DEL | 0.306 | ND | ND | - |
PCSK9 | p.R93H | Missense | SNP | 0.487 | 2 | - | - |
PCYOX1 | p.R484C | Missense | SNP | 0.457 | 2 | - | - |
PDCD11 | - | - | - | - | 3 | Gain | - |
PDCD4 | - | - | - | - | 3 | Gain | - |
PDE5A | p.H617Y | Missense | SNP | 0.463 | 2 | - | - |
PDE6C | - | - | - | - | 3 | Gain | - |
PDLIM1 | - | - | - | - | 3 | Gain | - |
PDSS1 | - | - | - | - | 3 | Gain | - |
PDX1 | p.S231P | Missense | SNP | 0.500 | 2 | - | - |
PDZD2 | p.K104Qfs*38 | Frame_Shift_Ins | INS | 0.275 | 2 | - | - |
PDZD7 | - | - | - | - | 3 | Gain | - |
PDZD8 | - | - | - | - | 3 | Gain | - |
PDZRN3 | p.A947T | Missense | SNP | 0.571 | 2 | - | - |
PEG3 | p.S403L | Missense | SNP | 0.505 | 2 | - | - |
PEX5 | p.R241W | Missense | SNP | 0.538 | 2 | - | - |
PFKFB3 | - | - | - | - | 3 | Gain | - |
PFKP | p.R265Gfs*2 p.I320V | Frame_Shift_Del Missense | DEL SNP | 0.299 0.652 | 3 | Gain | - |
PGAM1 | - | - | - | - | 3 | Gain | - |
PGAP2 | p.R314* | Nonsense | SNP | 0.532 | 2 | - | - |
PHC2 | p.R656H | Missense | SNP | 0.083 | 2 | - | - |
PHF13 | p.A145T | Missense | SNP | 0.490 | 2 | - | - |
PHF21A | p.P652Lfs*104 | Frame_Shift_Del | DEL | 0.450 | 2 | - | - |
PHKG2 | p.R71W | Missense | SNP | 0.483 | 2 | - | - |
PHLPP1 | - | - | - | - | 3 | Gain | - |
PHYH | - | - | - | - | 3 | Gain | - |
PHYHIPL | - | - | - | - | 3 | Gain | - |
PI4K2A | - | - | - | - | 3 | Gain | - |
PIAS2 | - | - | - | - | 3 | Gain | - |
PIEZO2 | - | - | - | - | 3 | Gain | - |
PIGN | - | - | - | - | 3 | Gain | - |
PIGR | p.R296K | Missense | SNP | 0.143 | 2 | - | - |
PIK3AP1 | - | - | - | - | 3 | Gain | - |
PIK3C2A | p.A916T | Missense | SNP | 0.515 | 2 | - | - |
PIK3C3 | - | - | - | - | 3 | Gain | - |
PIK3CD | p.C355Y | Missense | SNP | 0.507 | 2 | - | - |
PIK3R4 | p.V448I | Missense | SNP | 0.483 | 2 | - | - |
PIP4K2A | - | - | - | - | 3 | Gain | - |
PIP5KL1 | p.R9Afs*47 | Frame_Shift_Del | DEL | 0.639 | 2 | - | - |
PITPNM3 | p.R424C | Missense | SNP | 0.467 | 2 | - | - |
PITRM1 | - | - | - | - | 3 | Gain | - |
PITX3 | - | - | - | - | 3 | Gain | - |
PIWIL3 | p.R256H | Missense | SNP | 0.533 | 2 | - | - |
PKD2 | p.R896H | Missense | SNP | 0.562 | 2 | - | - |
PKD2L1 | - | - | - | - | 3 | Gain | - |
PKN2 | p.E854D | Missense | SNP | 0.509 | 2 | - | - |
PLA2G12B | - | - | - | - | 3 | Gain | - |
PLAC9 | - | - | - | - | 3 | Gain | - |
PLAT | p.T46M | Missense | SNP | 0.554 | 2 | - | - |
PLAU | - | - | - | - | 3 | Gain | - |
PLCE1 | - | - | - | - | 3 | Gain | - |
PLD3 | p.A402V | Missense | SNP | 0.505 | 2 | - | - |
PLD5 | p.V376I | Missense | SNP | 0.454 | 2 | - | - |
PLEC | p.T3608M p.E2305* p.R609H | Missense Nonsense Missense | SNP SNP SNP | 0.449 0.461 0.527 | 2 | - | - |
PLEKHA1 | - | - | - | - | 3 | Gain | - |
PLEKHO1 | p.Q256Rfs*6 | Frame_Shift_Del | DEL | 0.384 | 2 | - | - |
PLEKHS1 | - | - | - | - | 3 | Gain | - |
PLPP4 | - | - | - | - | 3 | Gain | - |
PLXDC1 | p.R230H | Missense | SNP | 0.170 | 2 | - | - |
PLXDC2 | - | - | - | - | 3 | Gain | - |
PLXNA1 | p.D1478N | Missense | SNP | 0.491 | 2 | - | - |
PMAIP1 | - | - | - | - | 3 | Gain | - |
PMS2 | p.R199C | Missense | SNP | 0.461 | 2 | - | - |
PNISR | p.R697Gfs*15 | Frame_Shift_Del | DEL | 0.557 | 2 | - | - |
PNLIP | - | - | - | - | 3 | Gain | - |
PNLIPRP1 | - | - | - | - | 3 | Gain | - |
PNLIPRP2 | - | - | - | - | 3 | Gain | - |
PNLIPRP3 | - | - | - | - | 3 | Gain | - |
PNPLA2 | p.A432T | Missense | SNP | 0.570 | 2 | - | - |
POLI | - | - | - | - | 3 | Gain | - |
POLL | - | - | - | - | 3 | Gain | - |
POLR3A | - | - | - | - | 3 | Gain | - |
POTEC | - | - | - | - | 3 | Gain | - |
POU2F2 | p.S577G | Missense | SNP | 0.414 | 2 | - | - |
PPA1 | - | - | - | - | 3 | Gain | - |
PPDPF | p.R55Afs*59 | Frame_Shift_Del | DEL | 0.527 | 2 | - | - |
PPFIA2 | p.R50W | Missense | SNP | 0.493 | 2 | - | - |
PPHLN1 | p.E370G | Missense | SNP | 0.485 | 2 | - | - |
PPIF | - | - | - | - | 3 | Gain | - |
PPIL1 | p.R72* | Nonsense | SNP | 0.460 | 2 | - | - |
PPL | p.R419Q | Missense | SNP | 0.548 | 2 | - | - |
PPP1R12C | p.I373Sfs*51 | Frame_Shift_Del | DEL | 0.444 | 2 | - | - |
PPP1R3C | - | - | - | - | 3 | Gain | - |
PPP2R1A | p.T524M | Missense | SNP | 0.484 | 2 | - | - |
PPP2R2D | - | - | - | - | 3 | Gain | - |
PPP3CB | - | - | - | - | 3 | Gain | - |
PPP4R1 | - | - | - | - | 3 | Gain | - |
PPRC1 | - | - | - | - | 3 | Gain | - |
PQLC1 | - | - | - | - | 3 | Gain | - |
PRAP1 | - | - | - | - | 3 | Gain | - |
PRDM2 | p.Y554C | Missense | SNP | 0.160 | 2 | - | - |
PRDX3 | - | - | - | - | 3 | Gain | - |
PRELID3A | - | - | - | - | 3 | Gain | - |
PRELP | p.N334Qfs*8 | Frame_Shift_Ins | INS | 0.357 | 2 | - | - |
PRF1 | - | - | - | - | 3 | Gain | - |
PRG4 | p.T367I | Missense | SNP | 0.475 | 2 | - | - |
PRICKLE3 | p.Q533R | Missense | SNP | 0.564 | ND | ND | - |
PRKCDBP | p.G182R | Missense | SNP | 0.492 | ND | ND | - |
PRKCI | p.R192W | Missense | SNP | 0.375 | 2 | - | - |
PRKCQ | - | - | - | - | 3 | Gain | - |
PRKG1 | - | - | - | - | 3 | Gain | - |
PRLHR | - | - | - | - | 3 | Gain | - |
PRMT2 | p.A23V | Missense | SNP | 0.434 | 2 | - | - |
PROM2 | p.E728Vfs*17 | Frame_Shift_Del | DEL | 0.409 | 2 | - | - |
PROSC | p.Q71H | Missense | SNP | 0.504 | ND | ND | - |
PROSER2 | - | - | - | - | 3 | Gain | - |
PRPF18 | - | - | - | - | 3 | Gain | - |
PRPF40B | p.P40L p.R491* | Missense Nonsense | SNP SNP | 0.435 0.481 | 2 | - | - |
PRPF8 | p.R49W | Missense | SNP | 0.556 | 2 | - | - |
PRR12 | p.F1281L | Missense | SNP | 0.509 | 2 | - | - |
PRR14L | p.F1767del | In_Frame_Del | DEL | 0.461 | 2 | - | - |
PRR26 | - | - | - | - | 3 | Gain | - |
PRR35 | p.A246Gfs*88 | Frame_Shift_Ins | INS | 0.267 | 2 | - | - |
PRRT2 | p.R217Pfs*8 | Frame_Shift_Ins | INS | 0.212 | 2 | - | - |
PRSS33 | p.Q70Sfs*4 | Frame_Shift_Del | DEL | 0.109 | 2 | - | - |
PRTFDC1 | - | - | - | - | 3 | Gain | - |
PRXL2A | - | - | - | - | 3 | Gain | - |
PSAP | - | - | - | - | 3 | Gain | - |
PSD | - | - | - | - | 3 | Gain | - |
PSEN1 | p.S178Hfs*24 | Frame_Shift_Del | DEL | 0.419 | 2 | - | - |
PSG2 | p.A263V | Missense | SNP | 0.490 | 2 | - | - |
PSMA8 | - | - | - | - | 3 | Gain | - |
PSMC5 | p.E396G | Missense | SNP | 0.505 | 2 | - | - |
PSMG2 | - | - | - | - | 3 | Gain | - |
PSTK | - | - | - | - | 3 | Gain | - |
PSTPIP2 | - | - | - | - | 3 | Gain | - |
PTCHD3 | - | - | - | - | 3 | Gain | - |
PTEN | - | - | - | - | 3 | Gain | - |
PTER | - | - | - | - | 3 | Gain | - |
PTF1A | - | - | - | - | 3 | Gain | - |
PTK2B | p.T603M | Missense | SNP | 0.519 | 2 | - | - |
PTOV1 | p.*417Sfs*14 | Frame_Shift_Del | DEL | 0.367 | 2 | - | - |
PTPN2 | - | - | - | - | 3 | Gain | - |
PTPN20 | - | - | - | - | 3 | Gain | - |
PTPN5 | p.P470Hfs*56 | Frame_Shift_Del | DEL | 0.474 | 2 | - | - |
PTPRCAP | p.V145M | Missense | SNP | 0.487 | 2 | - | - |
PTPRD | p.V1848I p.R401W | Missense Missense | SNP SNP | 0.542 0.559 | 2 | - | - |
PTPRE | - | - | - | - | 3 | Gain | - |
PTPRK | p.Y1057Tfs*61 | Frame_Shift_Del | DEL | 0.458 | 2 | - | - |
PTPRM | p.R1375C | Missense | SNP | 0.086 | 3 | Gain | - |
PTPRT | p.P372L | Missense | SNP | 0.500 | 2 | - | - |
PUM1 | p.R922Q | Missense | SNP | 0.472 | 2 | - | - |
PWWP2B | - | - | - | - | 3 | Gain | - |
PYROXD2 | - | - | - | - | 3 | Gain | - |
QKI | p.A273V | Missense | SNP | 0.446 | 2 | - | - |
QSER1 | p.N1697Mfs*4 | Frame_Shift_Del | DEL | 0.508 | 2 | - | - |
R3HCC1L | - | - | - | - | 3 | Gain | - |
RAB11FIP2 | - | - | - | - | 3 | Gain | - |
RAB11FIP4 | p.T257M | Missense | SNP | 0.498 | 2 | - | - |
RAB12 | - | - | - | - | 3 | Gain | - |
RAB18 | p.P4S | Missense | SNP | 0.250 | 3 | Gain | - |
RAB27B | - | - | - | - | 3 | Gain | - |
RAB31 | - | - | - | - | 3 | Gain | - |
RAB40C | p.K261N | Missense | SNP | 0.558 | 2 | - | - |
RAB4B | p.R129W | Missense | SNP | 0.506 | 2 | - | - |
RADIL | p.A743V p.V165M | Missense Missense | SNP SNP | 0.505 0.440 | 2 | - | - |
RAI2 | p.V474M | Missense | SNP | 0.466 | ND | ND | - |
RALBP1 | - | - | - | - | 3 | Gain | - |
RALGAPB | p.F971Sfs*53 | Frame_Shift_Del | DEL | 0.390 | 2 | - | - |
RALGDS | p.S675Afs*145 | Frame_Shift_Del | DEL | 0.573 | 2 | - | - |
RANBP17 | p.N641Tfs*35 | Frame_Shift_Del | DEL | 0.467 | 2 | - | - |
RANBP3 | p.T292M | Missense | SNP | 0.544 | 2 | - | - |
RANGAP1 | p.G21Dfs*3 | Frame_Shift_Del | DEL | 0.375 | 2 | - | - |
RAPGEF4 | p.E389Kfs*10 | Frame_Shift_Del | DEL | 0.541 | 2 | - | - |
RASAL3 | p.R39H | Missense | SNP | 0.455 | 2 | - | - |
RASGEF1A | - | - | - | - | 3 | Gain | - |
RASGRP3 | p.R549Q | Missense | SNP | 0.548 | 2 | - | - |
RASL11B | p.R109C | Missense | SNP | 0.531 | 2 | - | - |
RASSF4 | - | - | - | - | 3 | Gain | - |
RASSF9 | p.R166Q | Missense | SNP | 0.507 | 2 | - | - |
RAX | - | - | - | - | 3 | Gain | - |
RB1CC1 | p.K964Sfs*13 | Frame_Shift_Del | DEL | 0.056 | 2 | - | - |
RBBP8 | - | - | - | - | 3 | Gain | - |
RBFA | - | - | - | - | 3 | Gain | - |
RBM14 | p.F191Lfs*40 | Frame_Shift_Del | DEL | 0.481 | 2 | - | - |
RBM17 | - | - | - | - | 3 | Gain | - |
RBM20 | p.R1057Q | Missense | SNP | 0.689 | 3 | Gain | - |
RBM27 | p.K816Nfs*5 | Frame_Shift_Del | DEL | 0.567 | 2 | - | - |
RBM43 | p.I136Sfs*4 | Frame_Shift_Del | DEL | 0.454 | 2 | - | - |
RBM46 | p.R266W | Missense | SNP | 0.423 | 2 | - | - |
RBM47 | p.G112S | Missense | SNP | 0.487 | 2 | - | - |
RBM48 | p.P217H | Missense | SNP | 0.500 | 2 | - | - |
RBM4B | p.P154Lfs*24 | Frame_Shift_Del | DEL | 0.510 | 2 | - | - |
RBP3 | - | - | - | - | 3 | Gain | - |
RBP4 | - | - | - | - | 3 | Gain | - |
RCAN3 | p.A151S | Missense | SNP | 0.543 | 2 | - | - |
RCC1 | p.R33H | Missense | SNP | 0.456 | 2 | - | - |
RDH10 | . | Missense | DEL | 0.440 | 2 | - | - |
RECQL4 | p.A207Pfs*6 | Frame_Shift_Del | DEL | 0.481 | 2 | - | - |
REEP3 | - | - | - | - | 3 | Gain | - |
RELA | p.H487Pfs*4 | Frame_Shift_Ins | INS | 0.309 | 2 | - | - |
RELCH | - | - | - | - | 3 | Gain | - |
RERE | p.P940L | Missense | SNP | 0.453 | 2 | - | - |
RET | - | - | - | - | 3 | Gain | - |
RETSAT | p.A586T | Missense | SNP | 0.316 | 2 | - | - |
RGR | - | - | - | - | 3 | Gain | - |
RGS10 | p.G110R | Missense | SNP | 0.322 | 3 | Gain | - |
RGS12 | p.P1357L | Missense | SNP | 0.508 | 2 | - | - |
RHOBTB1 | - | - | - | - | 3 | Gain | - |
RHOXF1 | p.D174Tfs*22 | Frame_Shift_Del | DEL | 0.409 | ND | ND | - |
RINT1 | p.P247Lfs*8 | Frame_Shift_Del | DEL | 0.438 | 2 | - | - |
RIOK3 | - | - | - | - | 3 | Gain | - |
RIPK4 | p.A147T | Missense | SNP | 0.508 | 2 | - | - |
RIT2 | - | - | - | - | 3 | Gain | - |
RLF | p.R721* | Nonsense | SNP | 0.551 | 2 | - | - |
RMC1 | - | - | - | - | 3 | Gain | - |
RNF113B | p.G104V | Missense | SNP | 0.514 | 2 | - | - |
RNF121 | p.R194W | Missense | SNP | 0.427 | 2 | - | - |
RNF125 | - | - | - | - | 3 | Gain | - |
RNF128 | p.R6M | Missense | SNP | 0.292 | ND | ND | - |
RNF138 | - | - | - | - | 3 | Gain | - |
RNF145 | p.K26E | Missense | SNP | 0.193 | 2 | - | - |
RNF152 | - | - | - | - | 3 | Gain | - |
RNF165 | - | - | - | - | 3 | Gain | - |
RNLS | - | - | - | - | 3 | Gain | - |
RNMT | - | - | - | - | 3 | Gain | - |
RNU5B-1 | - | - | - | - | ND | ND | AC005324.4--RNU5B-1 |
ROBO2 | p.K720Rfs*3 p.L601P | Frame_Shift_Del Missense | DEL SNP | 0.455 0.482 | 2 | - | - |
ROCK1 | - | - | - | - | 3 | Gain | - |
ROS1 | p.V2276A p.G1915R p.T1670S | Missense Missense Missense | SNP SNP SNP | 0.421 0.463 0.454 | 2 | - | - |
RP11-310K10.1 | p.A353T | Missense | SNP | 0.434 | ND | ND | - |
RPEL1 | - | - | - | - | 3 | Gain | - |
RPL17 | - | - | - | - | 3 | Gain | - |
RPL17-C18orf32 | - | - | - | - | 3 | Gain | - |
RPL22 | p.K15Rfs*5 | Frame_Shift_Del | DEL | 0.469 | 2 | - | - |
RPL3L | p.A75V | Missense | SNP | 0.487 | 2 | - | - |
RPL7A | p.K11del | In_Frame_Del | DEL | 0.529 | 2 | - | - |
RPP30 | - | - | - | - | 3 | Gain | - |
RPP38 | - | - | - | - | 3 | Gain | - |
RPRD1A | - | - | - | - | 3 | Gain | - |
RPS24 | - | - | - | - | 3 | Gain | - |
RPSA | - | - | - | - | 2 | - | RPSA--TUBA1A |
RRP12 | - | - | - | - | 3 | Gain | - |
RSU1 | - | - | - | - | 3 | Gain | - |
RTCA | p.T334M | Missense | SNP | 0.535 | 2 | - | - |
RTF1 | p.R333* | Nonsense | SNP | 0.486 | 2 | - | - |
RTKN2 | - | - | - | - | 3 | Gain | - |
RTTN | - | - | - | - | 3 | Gain | - |
RUFY2 | - | - | - | - | 3 | Gain | - |
SACS | p.K1717Nfs*8 | Frame_Shift_Del | DEL | 0.439 | 2 | - | - |
SALL3 | p.T658M | Missense | SNP | 0.641 | 3 | Gain | - |
SAMD8 | - | - | - | - | 3 | Gain | - |
SAR1A | - | - | - | - | 3 | Gain | - |
SCAF1 | p.T1181Pfs*28 | Frame_Shift_Del | DEL | 0.422 | 2 | - | - |
SCART1 | - | - | - | - | 3 | Gain | - |
SCD | - | - | - | - | 3 | Gain | - |
SCN10A | p.P633H | Missense | SNP | 0.526 | 2 | - | - |
SCN4A | p.W1002* | Nonsense | SNP | 0.452 | 2 | - | - |
SCN8A | p.W942C | Missense | SNP | 0.652 | 2 | - | - |
SCRIB | p.F1211L | Missense | SNP | 0.505 | 2 | - | - |
SCX | - | - | - | - | 1 | Loss | - |
SDK1 | p.R140C | Missense | SNP | 0.268 | 2 | - | - |
SEC11C | - | - | - | - | 3 | Gain | - |
SEC14L5 | p.A349V | Missense | SNP | 0.513 | 2 | - | - |
SEC16B | p.V643M | Missense | SNP | 0.544 | 2 | - | - |
SEC23IP | - | - | - | - | 3 | Gain | - |
SEC24C | - | - | - | - | 3 | Gain | - |
SEC31B | - | - | - | - | 3 | Gain | - |
SEC61A2 | - | - | - | - | 3 | Gain | - |
SEH1L | - | - | - | - | 3 | Gain | - |
SELP | p.V501I | Missense | SNP | 0.417 | 2 | - | - |
SEMA4G | - | - | - | - | 3 | Gain | - |
SEMA5B | p.P325L | Missense | SNP | 0.667 | 2 | - | - |
SEMG1 | p.A241V | Missense | SNP | 0.430 | 2 | - | - |
SENP6 | p.R1072* | Nonsense | SNP | 0.521 | 2 | - | - |
SENP7 | p.K545Nfs*11 | Frame_Shift_Del | DEL | 0.479 | 2 | - | - |
SEPHS1 | - | - | - | - | 3 | Gain | - |
SERAC1 | p.V8I | Missense | SNP | 0.463 | 2 | - | - |
SERPINB10 | - | - | - | - | 3 | Gain | - |
SERPINB11 | - | - | - | - | 3 | Gain | - |
SERPINB12 | - | - | - | - | 3 | Gain | - |
SERPINB13 | - | - | - | - | 3 | Gain | - |
SERPINB2 | - | - | - | - | 3 | Gain | - |
SERPINB3 | - | - | - | - | 3 | Gain | - |
SERPINB4 | - | - | - | - | 3 | Gain | - |
SERPINB5 | - | - | - | - | 3 | Gain | - |
SERPINB7 | - | - | - | - | 3 | Gain | - |
SERPINB8 | - | - | - | - | 3 | Gain | - |
SERPINE1 | p.A97T | Missense | SNP | 0.354 | 2 | - | - |
SESTD1 | p.T534M | Missense | SNP | 0.545 | 2 | - | - |
SETBP1 | - | - | - | - | 3 | Gain | - |
SETD1B | p.H8Tfs*27 p.S291N | Frame_Shift_Del Missense | DEL SNP | 0.585 0.478 | 2 | - | - |
SETD5 | p.S1286Lfs*37 | Frame_Shift_Ins | INS | 0.316 | 2 | - | - |
SEZ6L2 | p.T77M | Missense | SNP | 0.459 | 2 | - | - |
SFMBT2 | - | - | - | - | 3 | Gain | - |
SFR1 | - | - | - | - | 3 | Gain | - |
SFRP5 | - | - | - | - | 3 | Gain | - |
SFTPA1 | - | - | - | - | 3 | Gain | - |
SFTPA2 | - | - | - | - | 3 | Gain | - |
SFTPD | - | - | - | - | 3 | Gain | - |
SFXN2 | p.D75G | Missense | SNP | 0.200 | 3 | Gain | - |
SFXN3 | - | - | - | - | 3 | Gain | - |
SFXN4 | - | - | - | - | 3 | Gain | - |
SGMS1 | - | - | - | - | 3 | Gain | - |
SGO1 | p.R522Efs*39 p.M325Cfs*28 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.565 0.443 | 2 | - | - |
SGPL1 | - | - | - | - | 3 | Gain | - |
SH2D4B | - | - | - | - | 3 | Gain | - |
SH3PXD2A | - | - | - | - | 3 | Gain | - |
SHC2 | p.P407Rfs*37 | Frame_Shift_Del | DEL | 0.380 | 2 | - | - |
SHISA7 | p.G359Afs*178 | Frame_Shift_Del | DEL | 0.362 | 2 | - | - |
SHLD2 | - | - | - | - | 3 | Gain | - |
SHOC2 | - | - | - | - | 3 | Gain | - |
SHROOM2 | p.R753Q | Missense | SNP | 0.531 | ND | ND | - |
SHROOM3 | p.A1622T | Missense | SNP | 0.430 | 2 | - | - |
SHROOM4 | p.K1314Rfs*23 p.R242C | Frame_Shift_Del Missense | DEL SNP | 0.510 0.490 | ND | ND | - |
SHTN1 | - | - | - | - | 3 | Gain | - |
SIGLEC15 | - | - | - | - | 3 | Gain | - |
SIPA1L3 | p.A460T | Missense | SNP | 0.554 | 2 | - | - |
SIRT1 | - | - | - | - | 3 | Gain | - |
SIX5 | p.A625Pfs*31 | Frame_Shift_Del | DEL | 0.426 | 2 | - | - |
SKA1 | - | - | - | - | 3 | Gain | - |
SKIDA1 | - | - | - | - | 3 | Gain | - |
SKOR2 | - | - | - | - | 3 | Gain | - |
SLC11A1 | p.A88V | Missense | SNP | 0.072 | 2 | - | - |
SLC14A1 | - | - | - | - | 3 | Gain | - |
SLC14A2 | - | - | - | - | 3 | Gain | - |
SLC16A12 | - | - | - | - | 3 | Gain | - |
SLC16A2 | p.G147R | Missense | SNP | 0.640 | ND | ND | - |
SLC16A9 | - | - | - | - | 3 | Gain | - |
SLC18A2 | - | - | - | - | 3 | Gain | - |
SLC18A3 | - | - | - | - | 3 | Gain | - |
SLC19A3 | p.R277H | Missense | SNP | 0.454 | 2 | - | - |
SLC1A7 | p.R11Gfs*27 p.T406I | Frame_Shift_Del Missense | DEL SNP | 0.519 0.522 | 2 | - | - |
SLC22A16 | p.T87M | Missense | SNP | 0.503 | 2 | - | - |
SLC22A18 | p.T93M | Missense | SNP | 0.432 | 2 | - | - |
SLC22A3 | p.R407H | Missense | SNP | 0.507 | 2 | - | - |
SLC22A6 | p.R192W | Missense | SNP | 0.358 | 2 | - | - |
SLC25A16 | - | - | - | - | 3 | Gain | - |
SLC25A24 | p.G192R | Missense | SNP | 0.506 | 2 | - | - |
SLC25A28 | - | - | - | - | 3 | Gain | - |
SLC25A52 | - | - | - | - | 3 | Gain | - |
SLC26A1 | p.R365H | Missense | SNP | 0.449 | 2 | - | - |
SLC29A3 | - | - | - | - | 3 | Gain | - |
SLC30A8 | p.S183R | Missense | SNP | 0.496 | 2 | - | - |
SLC35B2 | p.A411V | Missense | SNP | 0.094 | 2 | - | - |
SLC35G1 | - | - | - | - | 3 | Gain | - |
SLC35G4 | - | - | - | - | 3 | Gain | - |
SLC39A12 | - | - | - | - | 3 | Gain | - |
SLC39A13 | p.A279T | Missense | SNP | 0.543 | 2 | - | - |
SLC39A6 | - | - | - | - | 3 | Gain | - |
SLC44A4 | p.V238Wfs*5 | Frame_Shift_Del | DEL | 0.386 | 2 | - | - |
SLC45A1 | p.P494L | Missense | SNP | 0.453 | 2 | - | - |
SLC5A6 | p.R142* | Nonsense | SNP | 0.492 | 2 | - | - |
SLC7A10 | p.T158Pfs*12 | Frame_Shift_Del | DEL | 0.486 | 2 | - | - |
SLC9C1 | p.F10Sfs*11 | Frame_Shift_Del | DEL | 0.342 | 2 | - | - |
SLCO1C1 | p.A588V | Missense | SNP | 0.475 | 2 | - | - |
SLCO4A1 | p.T297M | Missense | SNP | 0.560 | 2 | - | - |
SLF1 | p.R126K | Missense | SNP | 0.473 | 2 | - | - |
SLF2 | - | - | - | - | 3 | Gain | - |
SLIT1 | p.R1481H | Missense | SNP | 0.324 | 3 | Gain | - |
SLITRK5 | p.N762Tfs*12 | Frame_Shift_Del | DEL | 0.448 | 2 | - | - |
SLK | - | - | - | - | 3 | Gain | - |
SMAD2 | - | - | - | - | 3 | Gain | - |
SMAD4 | - | - | - | - | 3 | Gain | - |
SMAD7 | - | - | - | - | 3 | Gain | - |
SMARCA1 | p.K57del | In_Frame_Del | DEL | 0.402 | ND | ND | - |
SMARCA4 | p.G271Rfs*16 p.G911D p.R1157Q | Frame_Shift_Ins Missense Missense | INS SNP SNP | 0.320 0.500 0.487 | 2 | - | - |
SMARCD1 | p.R503* | Nonsense | SNP | 0.523 | 2 | - | - |
SMC2 | p.K368E | Missense | SNP | 0.464 | 2 | - | - |
SMC3 | - | - | - | - | 3 | Gain | - |
SMCHD1 | - | - | - | - | 3 | Gain | - |
SMIM21 | - | - | - | - | 3 | Gain | - |
SMNDC1 | - | - | - | - | 3 | Gain | - |
SMPD4 | - | - | - | - | 1 | Loss | - |
SMPX | p.R34Qfs*8 | Frame_Shift_Ins | INS | 0.312 | ND | ND | - |
SMYD4 | p.S737G | Missense | SNP | 0.515 | 2 | - | - |
SNCG | - | - | - | - | 3 | Gain | - |
SND1 | p.R539H | Missense | SNP | 0.504 | 2 | - | - |
SNED1 | p.P701Rfs*4 | Frame_Shift_Del | DEL | 0.482 | 2 | - | - |
SNHG1 | - | - | - | - | ND | ND | SNHG1--ATP5F1E |
SNRPB | p.R25W | Missense | SNP | 0.538 | 2 | - | - |
SNRPD1 | - | - | - | - | 3 | Gain | - |
SNW1 | p.Q15H | Missense | SNP | 0.667 | 2 | - | - |
SNX13 | p.R854I | Missense | SNP | 0.474 | 2 | - | - |
SOCS6 | - | - | - | - | 3 | Gain | - |
SORBS1 | - | - | - | - | 3 | Gain | - |
SORCS1 | - | - | - | - | 3 | Gain | - |
SORCS3 | - | - | - | - | 3 | Gain | - |
SORL1 | p.M1581Cfs*34 | Frame_Shift_Del | DEL | 0.426 | 2 | - | - |
SOS1 | p.K1030Nfs*6 | Frame_Shift_Del | DEL | 0.342 | 2 | - | - |
SP110 | p.F623Lfs*28 | Frame_Shift_Del | DEL | 0.258 | 2 | - | - |
SPAG5 | p.R259C | Missense | SNP | 0.450 | 2 | - | - |
SPAG6 | - | - | - | - | 3 | Gain | - |
SPATA13 | p.R896H | Missense | SNP | 0.523 | 2 | - | - |
SPATA22 | p.N194Tfs*30 | Frame_Shift_Del | DEL | 0.410 | 2 | - | - |
SPATA31A1 | p.S1009Y | Missense | SNP | 0.450 | 2 | - | - |
SPEN | p.V1907I | Missense | SNP | 0.448 | 2 | - | - |
SPIRE1 | - | - | - | - | 3 | Gain | - |
SPNS2 | p.G79Afs*91 | Frame_Shift_Del | DEL | 0.323 | 2 | - | - |
SPOCK2 | - | - | - | - | 3 | Gain | - |
SPON1 | p.R758C | Missense | SNP | 0.441 | 2 | - | - |
SPON2 | p.T209M | Missense | SNP | 0.497 | 2 | - | - |
SPRN | - | - | - | - | 3 | Gain | - |
SPTAN1 | p.R474W | Missense | SNP | 0.560 | 2 | - | - |
SPTBN4 | p.C355Y | Missense | SNP | 0.376 | 2 | - | - |
SREBF1 | p.A1026T | Missense | SNP | 0.636 | 2 | - | - |
SRGAP3 | p.R585Q | Missense | SNP | 0.481 | 2 | - | - |
SRGN | - | - | - | - | 3 | Gain | - |
SRPRA | p.K170Rfs*33 | Frame_Shift_Del | DEL | 0.540 | 2 | - | - |
SS18 | - | - | - | - | 3 | Gain | - |
SSRP1 | p.R463W | Missense | SNP | 0.547 | 2 | - | - |
SSTR3 | p.R161Afs*28 | Frame_Shift_Del | DEL | 0.494 | 2 | - | - |
SSTR4 | p.G11Afs*61 p.R252C | Frame_Shift_Del Missense | DEL SNP | 0.511 0.521 | 2 | - | - |
SSU72 | p.D50N | Missense | SNP | 0.547 | 2 | - | - |
SSX5 | p.R181H | Missense | SNP | 0.512 | ND | ND | - |
ST8SIA3 | - | - | - | - | 3 | Gain | - |
ST8SIA5 | - | - | - | - | 3 | Gain | - |
ST8SIA6 | - | - | - | - | 3 | Gain | - |
STAB1 | p.E1712Rfs*8 | Frame_Shift_Ins | INS | 0.304 | 2 | - | - |
STAG2 | p.R1195C | Missense | SNP | 0.498 | ND | ND | - |
STAM | - | - | - | - | 3 | Gain | - |
STAMBPL1 | - | - | - | - | 3 | Gain | - |
STARD6 | - | - | - | - | 3 | Gain | - |
STAT5B | p.R430H | Missense | SNP | 0.574 | 2 | - | - |
STK32C | - | - | - | - | 3 | Gain | - |
STK38 | p.F382Lfs*70 | Frame_Shift_Del | DEL | 0.436 | 2 | - | - |
STMN4 | p.R205Q | Missense | SNP | 0.463 | 2 | - | - |
STN1 | - | - | - | - | 3 | Gain | - |
STOX1 | - | - | - | - | 3 | Gain | - |
STRBP | p.R289* | Nonsense | SNP | 0.500 | 2 | - | - |
SUFU | p.R224Q | Missense | SNP | 0.379 | 3 | Gain | - |
SULT1C3 | p.E76K | Missense | SNP | 0.470 | 2 | - | - |
SULT6B1 | p.K48Sfs*21 | Frame_Shift_Del | DEL | 0.409 | 2 | - | - |
SUPT20H | p.R506Q | Missense | SNP | 0.052 | 2 | - | - |
SUPT5H | p.Y564H p.R700Q | Missense Missense | SNP SNP | 0.431 0.524 | 2 | - | - |
SUPV3L1 | - | - | - | - | 3 | Gain | - |
SURF2 | p.R28M | Missense | SNP | 0.482 | 2 | - | - |
SURF6 | p.R216H | Missense | SNP | 0.500 | 2 | - | - |
SUV39H2 | - | - | - | - | 3 | Gain | - |
SVIL | - | - | - | - | 3 | Gain | - |
SVOPL | p.F95Lfs*36 | Frame_Shift_Del | DEL | 0.521 | 2 | - | - |
SYCE1 | - | - | - | - | 3 | Gain | - |
SYNPO | p.S750N | Missense | SNP | 0.219 | 2 | - | - |
SYNPO2L | - | - | - | - | 3 | Gain | - |
SYT15 | - | - | - | - | 3 | Gain | - |
SYT4 | - | - | - | - | 3 | Gain | - |
SYTL4 | p.P75L | Missense | SNP | 0.451 | ND | ND | - |
TACC1 | p.K261Qfs*9 | Frame_Shift_Ins | INS | 0.335 | 2 | - | - |
TACC2 | - | - | - | - | 3 | Gain | - |
TACR2 | - | - | - | - | 3 | Gain | - |
TAF1B | p.S471Afs*28 | Frame_Shift_Del | DEL | 0.386 | 2 | - | - |
TAF3 | - | - | - | - | 3 | Gain | - |
TAF4 | p.X588_splice | Splice_Site | SNP | 0.460 | 2 | - | - |
TAF4B | - | - | - | - | 3 | Gain | - |
TAF5 | - | - | - | - | 3 | Gain | - |
TAOK3 | p.A784V | Missense | SNP | 0.475 | 2 | - | - |
TAS1R2 | p.R226H | Missense | SNP | 0.490 | 2 | - | - |
TBATA | - | - | - | - | 3 | Gain | - |
TBC1D10C | p.A321Rfs*100 | Frame_Shift_Del | DEL | 0.095 | 2 | - | - |
TBC1D12 | - | - | - | - | 3 | Gain | - |
TBC1D23 | p.K649Nfs*18 | Frame_Shift_Del | DEL | 0.370 | 2 | - | - |
TCEAL4 | p.A16V | Missense | SNP | 0.377 | ND | ND | - |
TCERG1L | - | - | - | - | 3 | Gain | - |
TCF3 | p.R609W | Missense | SNP | 0.497 | 2 | - | - |
TCF4 | - | - | - | - | 3 | Gain | - |
TCF7L2 | p.K466E | Missense | SNP | 0.285 | 3 | Gain | - |
TCP11L2 | p.L308P | Missense | SNP | 0.523 | 2 | - | - |
TCTN3 | - | - | - | - | 3 | Gain | - |
TDRD1 | - | - | - | - | 3 | Gain | - |
TEAD2 | p.H299Mfs*12 | Frame_Shift_Del | DEL | 0.955 | 2 | - | - |
TECTB | - | - | - | - | 3 | Gain | - |
TET1 | - | - | - | - | 3 | Gain | - |
TEX264 | p.R203W | Missense | SNP | 0.531 | 2 | - | - |
TEX36 | - | - | - | - | 3 | Gain | - |
TFAM | p.E148Sfs*2 | Frame_Shift_Del | DEL | 0.435 | 3 | Gain | - |
TFCP2 | p.R257Q | Missense | SNP | 0.518 | 2 | - | - |
TGIF1 | - | - | - | - | 3 | Gain | - |
TGM1 | p.R46C | Missense | SNP | 0.535 | 2 | - | - |
THAP8 | p.L116Cfs*15 | Frame_Shift_Del | DEL | 0.482 | 2 | - | - |
THNSL1 | - | - | - | - | 3 | Gain | - |
THOC1 | - | - | - | - | 3 | Gain | - |
THSD7B | p.G987C | Missense | SNP | 0.405 | 2 | - | - |
THYN1 | p.N194Ifs*15 | Frame_Shift_Del | DEL | 0.091 | 2 | - | - |
TIAL1 | - | - | - | - | 3 | Gain | - |
TICRR | p.R1086* | Nonsense | SNP | 0.388 | 2 | - | - |
TIE1 | p.R603H | Missense | SNP | 0.457 | 2 | - | - |
TIFAB | p.E143D | Missense | SNP | 0.500 | 2 | - | - |
TIMM21 | - | - | - | - | 3 | Gain | - |
TIMM23 | - | - | - | - | 3 | Gain | - |
TIMM23B | - | - | - | - | 3 | Gain | - |
TJAP1 | p.S361N | Missense | SNP | 0.525 | 2 | - | - |
TKTL2 | p.G263R p.R24Q | Missense Missense | SNP SNP | 0.506 0.462 | 2 | - | - |
TLE2 | p.S250Qfs*30 | Frame_Shift_Ins | INS | 0.335 | 2 | - | - |
TLL2 | - | - | - | - | 3 | Gain | - |
TLN2 | p.V1160M p.E2318K | Missense Missense | SNP SNP | 0.465 0.459 | 2 | - | - |
TLX1 | - | - | - | - | 3 | Gain | - |
TM6SF2 | p.A201T p.A107V | Missense Missense | SNP SNP | 0.538 0.474 | 2 | - | - |
TM9SF3 | - | - | - | - | 3 | Gain | - |
TMED3 | p.V153I | Missense | SNP | 0.495 | 2 | - | - |
TMEM131 | p.D1577G | Missense | SNP | 0.539 | 2 | - | - |
TMEM155 | p.S121Ifs*44 | Frame_Shift_Del | DEL | 0.430 | 2 | - | - |
TMEM168 | p.R258C | Missense | SNP | 0.519 | 2 | - | - |
TMEM169 | p.T164M | Missense | SNP | 0.419 | 2 | - | - |
TMEM181 | p.F186L | Missense | SNP | 0.491 | 2 | - | - |
TMEM200C | p.P21Qfs*22 | Frame_Shift_Del | DEL | 0.269 | 3 | Gain | - |
TMEM231 | p.S275N | Missense | SNP | 0.500 | 2 | - | - |
TMEM236 | - | - | - | - | 3 | Gain | - |
TMEM239 | p.G136S | Missense | SNP | 0.518 | 2 | - | - |
TMEM241 | - | - | - | - | 3 | Gain | - |
TMEM254 | - | - | - | - | 3 | Gain | - |
TMEM26 | - | - | - | - | 3 | Gain | - |
TMEM273 | - | - | - | - | 3 | Gain | - |
TMEM50A | p.R79Q | Missense | SNP | 0.463 | 2 | - | - |
TMEM72 | - | - | - | - | 3 | Gain | - |
TMEM92 | p.Y120Tfs*4 | Frame_Shift_Del | DEL | 0.380 | 2 | - | - |
TMOD3 | p.I97Yfs*23 | Frame_Shift_Del | DEL | 0.443 | 2 | - | - |
TMTC2 | p.Q829Tfs*7 | Frame_Shift_Ins | INS | 0.295 | 2 | - | - |
TMX3 | - | - | - | - | 3 | Gain | - |
TNFRSF11A | p.P432L | Missense | SNP | 0.665 | 3 | Gain | - |
TNKS2 | - | - | - | - | 3 | Gain | - |
TNRC18 | p.A832P | Missense | SNP | 0.449 | 2 | - | - |
TNRC6C | p.N615Mfs*45 | Frame_Shift_Del | DEL | 0.508 | 2 | - | - |
TNS1 | p.R1198Q | Missense | SNP | 0.518 | 2 | - | - |
TOP2A | p.T1205Hfs*19 | Frame_Shift_Del | DEL | 0.515 | 2 | - | - |
TPCN2 | p.A615T | Missense | SNP | 0.431 | 2 | - | - |
TPGS2 | - | - | - | - | 3 | Gain | - |
TRAF2 | p.R486W | Missense | SNP | 0.438 | 2 | - | - |
TRAF3IP2 | p.P556Lfs*38 | Frame_Shift_Del | DEL | 0.484 | 2 | - | - |
TRAF7 | p.S17Afs*111 | Frame_Shift_Del | DEL | 0.502 | 2 | - | - |
TRAPPC8 | - | - | - | - | 3 | Gain | - |
TRDMT1 | - | - | - | - | 3 | Gain | - |
TRHR | p.A78T | Missense | SNP | 0.469 | 2 | - | - |
TRIM28 | p.R470W | Missense | SNP | 0.550 | 2 | - | - |
TRIM3 | p.S74L | Missense | SNP | 0.550 | 2 | - | - |
TRIM36 | p.R44H | Missense | SNP | 0.505 | 2 | - | - |
TRIM8 | - | - | - | - | 3 | Gain | - |
TRIO | p.R558C p.L1071P | Missense Missense | SNP SNP | 0.503 0.423 | 2 | - | - |
TRIOBP | p.R2039W | Missense | SNP | 0.458 | 2 | - | - |
TRIP12 | p.X378_splice | Splice_Site | SNP | 0.586 | 2 | - | - |
TRMT5 | p.R432W | Missense | SNP | 0.518 | 2 | - | - |
TRPM2 | p.A1278T p.R1336C | Missense Missense | SNP SNP | 0.505 0.443 | 2 | - | - |
TRPM3 | p.T944M | Missense | SNP | 0.431 | 2 | - | - |
TRUB1 | - | - | - | - | 3 | Gain | - |
TSHZ1 | - | - | - | - | 3 | Gain | - |
TSPAN14 | - | - | - | - | 3 | Gain | - |
TSPAN15 | - | - | - | - | 3 | Gain | - |
TSPAN5 | p.A192T | Missense | SNP | 0.549 | 2 | - | - |
TSPEAR | p.R67Afs*3 | Frame_Shift_Del | DEL | 0.431 | 2 | - | - |
TSR3 | p.A294Lfs*28 | Frame_Shift_Del | DEL | 0.419 | 2 | - | - |
TTC14 | p.R459C | Missense | SNP | 0.483 | 2 | - | - |
TTC16 | p.R86H | Missense | SNP | 0.609 | 2 | - | - |
TTC30A | p.M601Dfs*5 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
TTC37 | p.Y827* | Nonsense | SNP | 0.561 | 2 | - | - |
TTC39C | p.A444V | Missense | SNP | 0.614 | 3 | Gain | - |
TTC6 | p.L540Sfs*19 p.R923H | Frame_Shift_Del Missense | DEL SNP | 0.490 0.475 | 2 | - | - |
TTC7A | p.T733M | Missense | SNP | 0.408 | 2 | - | - |
TTN | p.P13097Lfs*12 p.K9807Rfs*5 p.R13727H p.G5061S | Frame_Shift_Del Frame_Shift_Del Missense Missense | DEL DEL SNP SNP | 0.395 0.226 0.452 0.472 | 2 | - | - |
TTR | - | - | - | - | 3 | Gain | - |
TUBA1A | - | - | - | - | 2 | - | RPSA--TUBA1A |
TUBA3E | p.F267S | Missense | SNP | 0.452 | 2 | - | - |
TUBAL3 | - | - | - | - | 3 | Gain | - |
TUBB6 | - | - | - | - | 3 | Gain | - |
TUBB8 | - | - | - | - | 3 | Gain | - |
TUBGCP2 | - | - | - | - | 3 | Gain | - |
TUBGCP6 | p.P1371H p.R793C | Missense Missense | SNP SNP | 0.474 0.597 | 2 | - | - |
TVP23A | p.F140Lfs*7 | Frame_Shift_Del | DEL | 0.474 | 2 | - | - |
TWNK | - | - | - | - | 3 | Gain | - |
TWSG1 | - | - | - | - | 3 | Gain | - |
TXNDC2 | - | - | - | - | 3 | Gain | - |
TXNL1 | - | - | - | - | 3 | Gain | - |
TXNL4A | p.G128S | Missense | SNP | 0.316 | 3 | Gain | - |
TYMS | - | - | - | - | 3 | Gain | - |
TYSND1 | - | - | - | - | 3 | Gain | - |
TYW1 | p.W154* | Nonsense | SNP | 0.570 | 2 | - | - |
UBA2 | p.A380T | Missense | SNP | 0.554 | 2 | - | - |
UBE2D1 | - | - | - | - | 3 | Gain | - |
UBR4 | p.R142* | Nonsense | SNP | 0.509 | 2 | - | - |
UBTD1 | - | - | - | - | 3 | Gain | - |
UCMA | - | - | - | - | 3 | Gain | - |
UCN3 | - | - | - | - | 3 | Gain | - |
UGT1A8 | p.P264T | Missense | SNP | 0.480 | 2 | - | - |
UNC13A | p.R1566W p.R39W | Missense Missense | SNP SNP | 0.535 0.487 | 2 | - | - |
UNC45A | p.A18Pfs*85 | Frame_Shift_Del | DEL | 0.475 | 2 | - | - |
UNC5B | - | - | - | - | 3 | Gain | - |
UNC5D | p.D379N | Missense | SNP | 0.533 | 2 | - | - |
UNK | p.R123H | Missense | SNP | 0.458 | 2 | - | - |
UPF2 | - | - | - | - | 3 | Gain | - |
UPF3A | p.E267Rfs*13 | Frame_Shift_Del | DEL | 0.467 | 2 | - | - |
UROS | - | - | - | - | 3 | Gain | - |
USH2A | p.R310Q | Missense | SNP | 0.500 | 2 | - | - |
USP14 | - | - | - | - | 3 | Gain | - |
USP2 | p.X413_splice | Splice_Site | INS | 0.296 | 2 | - | - |
USP40 | p.Q1160Tfs*20 | Frame_Shift_Ins | INS | 0.253 | 2 | - | - |
USP54 | - | - | - | - | 3 | Gain | - |
USP6NL | - | - | - | - | 3 | Gain | - |
USP9X | p.E2102K | Missense | SNP | 0.429 | ND | ND | - |
UTF1 | - | - | - | - | 3 | Gain | - |
UTP15 | p.L425* | Frame_Shift_Del | DEL | 0.436 | 2 | - | - |
UTRN | p.T287A | Missense | SNP | 0.500 | 2 | - | - |
VAPA | - | - | - | - | 3 | Gain | - |
VAX1 | - | - | - | - | 3 | Gain | - |
VCAN | p.W1619* | Nonsense | SNP | 0.462 | 2 | - | - |
VCL | p.R230C | Missense | SNP | 0.309 | 3 | Gain | - |
VCP | p.N616Cfs*11 | Frame_Shift_Del | DEL | 0.469 | 2 | - | - |
VDAC2 | - | - | - | - | 3 | Gain | - |
VENTX | - | - | - | - | 3 | Gain | - |
VEZF1 | p.V470I | Missense | SNP | 0.508 | 2 | - | - |
VIM | - | - | - | - | 3 | Gain | - |
VPS13A | p.I1709Nfs*6 p.R161H | Frame_Shift_Ins Missense | INS SNP | 0.289 0.551 | 2 | - | - |
VPS16 | p.R321H | Missense | SNP | 0.494 | 2 | - | - |
VPS18 | p.A889V | Missense | SNP | 0.526 | 2 | - | - |
VPS26A | - | - | - | - | 3 | Gain | - |
VPS35 | p.S179Y | Missense | SNP | 0.508 | 2 | - | - |
VPS4B | - | - | - | - | 3 | Gain | - |
VPS51 | p.V609M | Missense | SNP | 0.404 | 2 | - | - |
VPS8 | p.Q877H | Missense | SNP | 0.504 | 2 | - | - |
VSIG10L | p.V263Ffs*72 | Frame_Shift_Del | DEL | 0.409 | 2 | - | - |
VSIR | - | - | - | - | 3 | Gain | - |
VSTM4 | - | - | - | - | 3 | Gain | - |
VSX2 | p.A52V | Missense | SNP | 0.566 | 2 | - | - |
VTI1A | - | - | - | - | 3 | Gain | - |
VWA2 | - | - | - | - | 3 | Gain | - |
WAC | - | - | - | - | 3 | Gain | - |
WAPL | - | - | - | - | 3 | Gain | - |
WASHC2A | - | - | - | - | 3 | Gain | - |
WASHC2C | - | - | - | - | 3 | Gain | - |
WBP11 | p.G521Wfs*28 | Frame_Shift_Ins | INS | 0.303 | 2 | - | - |
WBP1L | - | - | - | - | 3 | Gain | - |
WDFY3 | p.L1060Cfs*41 | Frame_Shift_Del | DEL | 0.869 | 2 | - | - |
WDFY4 | - | - | - | - | 3 | Gain | - |
WDR11 | - | - | - | - | 3 | Gain | - |
WDR37 | - | - | - | - | 3 | Gain | - |
WDR47 | p.V693I | Missense | SNP | 0.518 | 2 | - | - |
WDR7 | - | - | - | - | 3 | Gain | - |
WDR78 | p.K30Rfs*28 | Frame_Shift_Del | DEL | 0.455 | 2 | - | - |
WDR87 | p.K2759Rfs*57 | Frame_Shift_Del | DEL | 0.470 | 2 | - | - |
WDTC1 | p.E290Tfs*6 p.V621M | Frame_Shift_Del Missense | DEL SNP | 0.407 0.536 | 2 | - | - |
WFDC3 | p.R66* | Nonsense | SNP | 0.486 | 2 | - | - |
WISP3 | p.K226Nfs*24 | Frame_Shift_Del | DEL | 0.475 | 2 | - | - |
WIZ | p.R234W | Missense | SNP | 0.534 | 2 | - | - |
WNK1 | p.P743T | Missense | SNP | 0.480 | 2 | - | - |
WNK3 | p.A403S | Missense | SNP | 0.521 | ND | ND | - |
WNT4 | p.K107Q | Missense | SNP | 0.496 | 2 | - | - |
WNT6 | p.D289N | Missense | SNP | 0.566 | 2 | - | - |
WNT8B | - | - | - | - | 3 | Gain | - |
WSCD1 | p.R76Q | Missense | SNP | 0.434 | 2 | - | - |
WWC2 | p.M206Cfs*17 p.R380Q | Frame_Shift_Del Missense | DEL SNP | 0.377 0.473 | 2 | - | - |
XIAP | p.H302Y | Missense | SNP | 0.554 | ND | ND | - |
XIRP2 | p.D1030N p.N1589T | Missense Missense | SNP SNP | 0.478 0.465 | 2 | - | - |
XPNPEP1 | - | - | - | - | 3 | Gain | - |
YES1 | - | - | - | - | 3 | Gain | - |
YLPM1 | p.G1063D | Missense | SNP | 0.525 | 2 | - | - |
YME1L1 | - | - | - | - | 3 | Gain | - |
ZADH2 | - | - | - | - | 3 | Gain | - |
ZBTB1 | p.K524Sfs*25 | Frame_Shift_Del | DEL | 0.481 | 2 | - | - |
ZBTB14 | p.R30H | Missense | SNP | 0.281 | 3 | Gain | - |
ZBTB38 | p.R917C | Missense | SNP | 0.451 | 2 | - | - |
ZBTB7A | p.A559V | Missense | SNP | 0.553 | 2 | - | - |
ZBTB7C | - | - | - | - | 3 | Gain | - |
ZCCHC2 | - | - | - | - | 3 | Gain | - |
ZCCHC24 | - | - | - | - | 3 | Gain | - |
ZCRB1 | p.K140Rfs*13 | Frame_Shift_Del | DEL | 0.457 | 2 | - | - |
ZDHHC16 | - | - | - | - | 3 | Gain | - |
ZDHHC18 | p.P367L | Missense | SNP | 0.490 | 2 | - | - |
ZDHHC5 | p.L657S | Missense | SNP | 0.488 | 2 | - | - |
ZDHHC6 | - | - | - | - | 3 | Gain | - |
ZEB1 | - | - | - | - | 3 | Gain | - |
ZFAND4 | - | - | - | - | 3 | Gain | - |
ZFHX3 | p.G17S | Missense | SNP | 0.525 | 2 | - | - |
ZFHX4 | p.L411Cfs*4 p.P2057Hfs*26 p.A171T | Frame_Shift_Del Frame_Shift_Del Missense | DEL DEL SNP | 0.497 0.182 0.572 | 2 | - | - |
ZFP36L2 | p.A229Rfs*245 p.G144Afs*43 | Frame_Shift_Ins Frame_Shift_Del | INS DEL | 0.307 0.425 | 2 | - | - |
ZFX | p.R536H | Missense | SNP | 0.429 | ND | ND | - |
ZFYVE27 | - | - | - | - | 3 | Gain | - |
ZKSCAN2 | p.A166V | Missense | SNP | 0.436 | 2 | - | - |
ZMIZ1 | - | - | - | - | 3 | Gain | - |
ZMYM3 | p.L85Afs*4 | Frame_Shift_Ins | INS | 0.337 | ND | ND | - |
ZMYM6 | p.N724Mfs*15 | Frame_Shift_Del | DEL | 0.369 | 2 | - | - |
ZMYND11 | - | - | - | - | 3 | Gain | - |
ZMYND8 | p.K655Sfs*14 | Frame_Shift_Del | DEL | 0.365 | 2 | - | - |
ZNF134 | p.E208K | Missense | SNP | 0.534 | 2 | - | - |
ZNF157 | p.K53N | Missense | SNP | 0.581 | ND | ND | - |
ZNF205 | p.A493V | Missense | SNP | 0.528 | 2 | - | - |
ZNF215 | p.R396* | Nonsense | SNP | 0.538 | 2 | - | - |
ZNF22 | - | - | - | - | 3 | Gain | - |
ZNF236 | - | - | - | - | 3 | Gain | - |
ZNF239 | - | - | - | - | 3 | Gain | - |
ZNF24 | - | - | - | - | 3 | Gain | - |
ZNF248 | - | - | - | - | 3 | Gain | - |
ZNF25 | - | - | - | - | 3 | Gain | - |
ZNF3 | p.T99Rfs*4 | Frame_Shift_Del | DEL | 0.450 | 2 | - | - |
ZNF32 | - | - | - | - | 3 | Gain | - |
ZNF33A | - | - | - | - | 3 | Gain | - |
ZNF33B | - | - | - | - | 3 | Gain | - |
ZNF365 | - | - | - | - | 3 | Gain | - |
ZNF37A | - | - | - | - | 3 | Gain | - |
ZNF384 | p.P517S | Missense | SNP | 0.505 | 2 | - | - |
ZNF396 | - | - | - | - | 3 | Gain | - |
ZNF397 | - | - | - | - | 3 | Gain | - |
ZNF407 | - | - | - | - | 3 | Gain | - |
ZNF438 | - | - | - | - | 3 | Gain | - |
ZNF441 | p.P418S | Missense | SNP | 0.407 | 2 | - | - |
ZNF460 | p.P447L | Missense | SNP | 0.447 | 2 | - | - |
ZNF479 | p.K127Nfs*74 | Frame_Shift_Del | DEL | 0.317 | 2 | - | - |
ZNF485 | - | - | - | - | 3 | Gain | - |
ZNF487 | - | - | - | - | 3 | Gain | - |
ZNF488 | - | - | - | - | 3 | Gain | - |
ZNF503 | - | - | - | - | 3 | Gain | - |
ZNF511 | - | - | - | - | 3 | Gain | - |
ZNF511-PRAP1 | - | - | - | - | 3 | Gain | - |
ZNF516 | - | - | - | - | 3 | Gain | - |
ZNF518A | - | - | - | - | 3 | Gain | - |
ZNF519 | - | - | - | - | 3 | Gain | - |
ZNF521 | - | - | - | - | 3 | Gain | - |
ZNF525 | p.A177T | Missense | SNP | 0.478 | 2 | - | - |
ZNF532 | p.R421Gfs*9 | Frame_Shift_Del | DEL | 0.611 | 3 | Gain | - |
ZNF552 | p.S172N | Missense | SNP | 0.449 | 2 | - | - |
ZNF567 | p.H253Tfs*5 | Frame_Shift_Ins | INS | 0.315 | 2 | - | - |
ZNF615 | p.G361R | Missense | SNP | 0.525 | 2 | - | - |
ZNF616 | p.T209Rfs*8 | Frame_Shift_Del | DEL | 0.477 | 2 | - | - |
ZNF687 | p.E930del | In_Frame_Del | DEL | 0.348 | 2 | - | - |
ZNF703 | p.A472T | Missense | SNP | 0.454 | 2 | - | - |
ZNF71 | p.R107H | Missense | SNP | 0.438 | 2 | - | - |
ZNF710 | p.R386C | Missense | SNP | 0.533 | 2 | - | - |
ZNF717 | p.K511N | Missense | SNP | 0.252 | 2 | - | - |
ZNF74 | p.A447T | Missense | SNP | 0.466 | 2 | - | - |
ZNF777 | p.P504Rfs*5 p.R566C | Frame_Shift_Del Missense | DEL SNP | 0.407 0.575 | 2 | - | - |
ZNF786 | p.R377C | Missense | SNP | 0.513 | 2 | - | - |
ZNF792 | p.T222I | Missense | SNP | 0.435 | 2 | - | - |
ZNF813 | p.S108N | Missense | SNP | 0.453 | 2 | - | - |
ZNF814 | p.K350Nfs*121 | Frame_Shift_Del | DEL | 0.205 | 2 | - | - |
ZNF831 | p.G1157E | Missense | SNP | 0.535 | 2 | - | - |
ZNF865 | p.A462T p.S672L | Missense Missense | SNP SNP | 0.531 0.484 | 2 | - | - |
ZNF880 | p.A332T | Missense | SNP | 0.432 | 2 | - | - |
ZRANB1 | - | - | - | - | 3 | Gain | - |
ZSCAN30 | - | - | - | - | 3 | Gain | - |
ZSWIM4 | p.R679Q | Missense | SNP | 0.488 | 2 | - | - |
ZSWIM8 | - | - | - | - | 3 | Gain | - |
ZW10 | p.R762C | Missense | SNP | 0.439 | 2 | - | - |
ZWINT | - | - | - | - | 3 | Gain | - |