PDMR-459534~040-R~C4H-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BG-
-
-
-
3Gain-
AADAT-
-
-
-
1Loss-
ABCA3-
-
-
-
1Loss-
ABCC2-
-
-
-
1Loss-
ABCF3p.R445C
Missense
SNP
0.492
2--
ABHD1-
-
-
-
1Loss-
ABLIM2-
-
-
-
1Loss-
ABO-
-
-
-
3Gain-
ABRAXAS2-
-
-
-
3Gain-
AC003002.1-
-
-
-
3Gain-
AC003002.2-
-
-
-
3Gain-
AC003002.3-
-
-
-
3Gain-
AC003005.1-
-
-
-
3Gain-
AC003006.1-
-
-
-
3Gain-
AC004076.1-
-
-
-
3Gain-
AC004754.1-
-
-
-
1Loss-
AC004832.3-
-
-
-
1Loss-
AC004997.1-
-
-
-
1Loss-
AC006486.1-
-
-
-
3Gain-
AC008073.3-
-
-
-
1Loss-
AC008537.1-
-
-
-
3Gain-
AC008750.8-
-
-
-
3Gain-
AC008982.1-
-
-
-
4Gain-
AC010326.2-
-
-
-
3Gain-
AC010327.1-
-
-
-
4Gain-
AC010487.3-
-
-
-
3Gain-
AC010522.1-
-
-
-
3Gain-
AC010616.1-
-
-
-
3Gain-
AC010616.2-
-
-
-
3Gain-
AC011455.2-
-
-
-
4Gain-
AC011462.1-
-
-
-
3Gain-
AC011479.1-
-
-
-
4Gain-
AC012309.1-
-
-
-
3Gain-
AC018709.1-
-
-
-
1Loss-
AC018755.2-
-
-
-
3Gain-
AC020907.6-
-
-
-
5Amp-
AC020915.1-
-
-
-
3Gain-
AC020915.5-
-
-
-
3Gain-
AC020922.1-
-
-
-
4Gain-
AC025283.2-
-
-
-
1Loss-
AC025283.3-
-
-
-
1Loss-
AC067968.1-
-
-
-
3Gain-
AC068896.1-
-
-
-
3Gain-
AC092073.1-
-
-
-
3Gain-
AC092329.3-
-
-
-
5Amp-
AC092442.1-
-
-
-
1Loss-
AC093227.2-
-
-
-
4Gain-
AC093323.1-
-
-
-
1Loss-
AC093525.1-
-
-
-
1Loss-
AC093525.2-
-
-
-
1Loss-
AC104662.2-
-
-
-
1Loss-
AC118470.1-
-
-
-
3Gain-
AC243967.1-
-
-
-
3Gain-
AC245748.1-
-
-
-
3Gain-
ACADSB-
-
-
-
3Gain-
ACOT7-
-
-
-
1Loss-
ACOX3-
-
-
-
1Loss-
ACP7-
-
-
-
4Gain-
ACSL1-
-
-
-
1Loss-
ACSM6-
-
-
-
1Loss-
ACTA2-
-
-
-
1Loss-
ACTN4-
-
-
-
4Gain-
ACTR1A-
-
-
-
1Loss-
AD000671.1-
-
-
-
5Amp-
AD000671.2-
-
-
-
5Amp-
ADAM12-
-
-
-
3Gain-
ADAM29-
-
-
-
1Loss-
ADAM8-
-
-
-
3Gain-
ADAMTS13-
-
-
-
3Gain-
ADAMTSL2-
-
-
-
3Gain-
ADARB2-
-
-
-
1Loss-
ADCY3-
-
-
-
1Loss-
ADCY9-
-
-
-
1Loss-
ADD1-
-
-
-
1Loss-
ADGRA1-
-
-
-
3Gain-
ADGRA3-
-
-
-
1Loss-
ADGRF3-
-
-
-
1Loss-
ADIRF-
-
-
-
1Loss-
ADRA2C-
-
-
-
1Loss-
AFAP1-
-
-
-
1Loss-
AGA-
-
-
-
1Loss-
AGBL5-
-
-
-
1Loss-
AHCTF1-
-
-
-
3Gain-
AK8-
-
-
-
3Gain-
AKAP11-
-
-
-
1Loss-
AKT2-
-
-
-
3Gain-
AL031708.1-
-
-
-
1Loss-
AL031847.2-
-
-
-
1Loss-
AL049779.1-
-
-
-
1Loss-
AL133352.1-
-
-
-
1Loss-
AL133353.2-
-
-
-
1Loss-
AL158801.5-
-
-
-
NDNDAL158801.5--HIC2
AL162377.3-
-
-
-
1Loss-
AL162417.1-
-
-
-
3Gain-
AL355315.1-
-
-
-
1Loss-
AL355916.2-
-
-
-
1Loss-
AL360181.3-
-
-
-
3Gain-
AL365273.2-
-
-
-
1Loss-
AL445238.1-
-
-
-
3Gain-
AL445989.1-
-
-
-
3Gain-
AL512506.3-
-
-
-
1Loss-
AL583836.1-
-
-
-
1Loss-
ALDH18A1-
-
-
-
1Loss-
ALG11-
-
-
-
1Loss-
ALK-
-
-
-
1Loss-
ALKBH6-
-
-
-
5Amp-
AMDHD2-
-
-
-
1Loss-
ANAPC4-
-
-
-
1Loss-
ANGEL1p.R398C
Missense
SNP
0.575
2--
ANKRD1-
-
-
-
1Loss-
ANKRD2-
-
-
-
1Loss-
ANKRD22-
-
-
-
1Loss-
ANKRD37-
-
-
-
1Loss-
ANKS3-
-
-
-
1Loss-
ANXA10-
-
-
-
1Loss-
ANXA5-
-
-
-
1Loss-
AP1B1-
-
-
-
1Loss-
AP1S3-
-
-
-
1Loss-
APLP1-
-
-
-
5Amp-
APOB-
-
-
-
1Loss-
ARFIP1-
-
-
-
1Loss-
ARG2-
-
-
-
1Loss-
ARHGAP19-
-
-
-
1Loss-
ARHGAP19-SLIT1-
-
-
-
1Loss-
ARHGAP33-
-
-
-
5Amp-
ARHGDIG-
-
-
-
1Loss-
ARHGEF1-
-
-
-
3Gain-
ARHGEF33-
-
-
-
1Loss-
ARID1A-
-
-
-
1Loss-
ARID1Bp.E2214K
Missense
SNP
0.469
2--
ARL11-
-
-
-
1Loss-
ARL3-
-
-
-
1Loss-
ARMH3-
-
-
-
1Loss-
ARMS2-
-
-
-
3Gain-
ARSJ-
-
-
-
1Loss-
AS3MT-
-
-
-
1Loss-
ASB5-
-
-
-
1Loss-
ASCC2-
-
-
-
1Loss-
ASIC5-
-
-
-
1Loss-
ASXL2-
-
-
-
1Loss-
ATAD1-
-
-
-
1Loss-
ATAD2B-
-
-
-
1Loss-
ATE1-
-
-
-
3Gain-
ATL2-
-
-
-
1Loss-
ATP1A3-
-
-
-
3Gain-
ATP4A-
-
-
-
5Amp-
ATP5MD-
-
-
-
1Loss-
ATP5ME-
-
-
-
1Loss-
ATP6V0C-
-
-
-
1Loss-
ATP6V1D-
-
-
-
1Loss-
ATP7B-
-
-
-
1Loss-
ATRAID-
-
-
-
1Loss-
AURKC-
-
-
-
3Gain-
AVPI1-
-
-
-
1Loss-
AVPR1A-
-
-
-
1Loss-
AXIN1-
-
-
-
1Loss-
AXL-
-
-
-
3Gain-
B3GNT8-
-
-
-
3Gain-
B9D2-
-
-
-
3Gain-
BABAM2-
-
-
-
1Loss-
BAG3-
-
-
-
3Gain-
BAIAP3-
-
-
-
1Loss-
BARHL1-
-
-
-
3Gain-
BCAM-
-
-
-
3Gain-
BCCIP-
-
-
-
3Gain-
BCKDHA-
-
-
-
3Gain-
BCL3-
-
-
-
3Gain-
BICDL2-
-
-
-
1Loss-
BIRC6-
-
-
-
1Loss-
BIRC8-
-
-
-
3Gain-
BLNK-
-
-
-
1Loss-
BLOC1S2-
-
-
-
1Loss-
BLOC1S4-
-
-
-
1Loss-
BLVRB-
-
-
-
3Gain-
BMPR1A-
-
-
-
1Loss-
BNIP3-
-
-
-
3Gain-
BOD1L1-
-
-
-
1Loss-
BORCS7-
-
-
-
1Loss-
BORCS7-ASMT-
-
-
-
1Loss-
BPIFC-
-
-
-
1Loss-
BRD3-
-
-
-
3Gain-
BRICD5-
-
-
-
1Loss-
BRINP3-
-
-
-
3Gain-
BRSK1-
-
-
-
4Gain-
BST1-
-
-
-
1Loss-
BTAF1-
-
-
-
1Loss-
BTBD16-
-
-
-
3Gain-
BTRC-
-
-
-
1Loss-
BUB3-
-
-
-
3Gain-
C10orf120-
-
-
-
3Gain-
C10orf62-
-
-
-
1Loss-
C10orf82-
-
-
-
3Gain-
C10orf88-
-
-
-
3Gain-
C10orf90-
-
-
-
3Gain-
C10orf95-
-
-
-
1Loss-
C14orf39-
-
-
-
1Loss-
C16orf71-
-
-
-
1Loss-
C16orf90-
-
-
-
1Loss-
C16orf91-
-
-
-
1Loss-
C16orf96-
-
-
-
1Loss-
C19orf12-
-
-
-
3Gain-
C19orf18-
-
-
-
3Gain-
C19orf33-
-
-
-
4Gain-
C19orf47-
-
-
-
3Gain-
C19orf54-
-
-
-
3Gain-
C19orf84-
-
-
-
3Gain-
C1QTNF7-
-
-
-
1Loss-
C1QTNF8-
-
-
-
1Loss-
C22orf31-
-
-
-
1Loss-
C22orf42-
-
-
-
1Loss-
C2orf16-
-
-
-
1Loss-
C2orf70-
-
-
-
1Loss-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C4orf3-
-
-
-
1Loss-
C4orf45-
-
-
-
1Loss-
C4orf46-
-
-
-
1Loss-
C4orf47-
-
-
-
1Loss-
C4orf48-
-
-
-
1Loss-
C4orf50-
-
-
-
1Loss-
C9orf116-
-
-
-
3Gain-
CAB39L-
-
-
-
1Loss-
CABP7-
-
-
-
1Loss-
CACFD1-
-
-
-
3Gain-
CACNA1H-
-
-
-
1Loss-
CACNG6-
-
-
-
4Gain-
CACNG7-
-
-
-
4Gain-
CACNG8-
-
-
-
4Gain-
CACUL1-
-
-
-
3Gain-
CAD-
-
-
-
1Loss-
CADM4-
-
-
-
3Gain-
CALHM1-
-
-
-
1Loss-
CALHM2-
-
-
-
1Loss-
CALHM3-
-
-
-
1Loss-
CALY-
-
-
-
3Gain-
CAMTA1-
-
-
-
1Loss-
CAND1-
-
-
-
1Loss-
CAPN12-
-
-
-
4Gain-
CAPN13-
-
-
-
1Loss-
CAPN14p.L448V
Missense
SNP
1.000
1Loss-
CAPN15-
-
-
-
1Loss-
CAPNS1-
-
-
-
3Gain-
CASKIN1-
-
-
-
1Loss-
CASP3-
-
-
-
1Loss-
CASTOR1-
-
-
-
1Loss-
CATSPERG-
-
-
-
4Gain-
CBLC-
-
-
-
3Gain-
CBR4-
-
-
-
1Loss-
CC2D2A-
-
-
-
1Loss-
CC2D2B-
-
-
-
1Loss-
CCDC106-
-
-
-
4Gain-
CCDC110-
-
-
-
1Loss-
CCDC117-
-
-
-
1Loss-
CCDC121-
-
-
-
1Loss-
CCDC122-
-
-
-
1Loss-
CCDC149-
-
-
-
1Loss-
CCDC154-
-
-
-
1Loss-
CCDC157-
-
-
-
1Loss-
CCDC172-
-
-
-
3Gain-
CCDC175-
-
-
-
1Loss-
CCDC63p.S243C
Missense
SNP
0.447
2--
CCDC70-
-
-
-
1Loss-
CCDC78-
-
-
-
1Loss-
CCDC96-
-
-
-
1Loss-
CCDC97-
-
-
-
3Gain-
CCER2-
-
-
-
4Gain-
CCKAR-
-
-
-
1Loss-
CCNE1-
-
-
-
3Gain-
CCNF-
-
-
-
1Loss-
CCNG1-
-
-
-
3Gain-
CCNJ-
-
-
-
1Loss-
CD109p.S796*
Nonsense
SNP
0.485
2--
CD177-
-
-
-
3Gain-
CD22-
-
-
-
5Amp-
CD38-
-
-
-
1Loss-
CD79A-
-
-
-
3Gain-
CDADC1-
-
-
-
1Loss-
CDC42BPAp.R1275C
Missense
SNP
0.491
2--
CDC42EP3-
-
-
-
1Loss-
CDC42EP5-
-
-
-
4Gain-
CDH10-
-
-
-
3Gain-
CDH12-
-
-
-
3Gain-
CDH18-
-
-
-
3Gain-
CDH6-
-
-
-
3Gain-
CDH9-
-
-
-
3Gain-
CDIP1-
-
-
-
1Loss-
CDKL4-
-
-
-
1Loss-
CDKN2AIP-
-
-
-
1Loss-
CEACAM1-
-
-
-
3Gain-
CEACAM16-
-
-
-
3Gain-
CEACAM18-
-
-
-
3Gain-
CEACAM19-
-
-
-
3Gain-
CEACAM20-
-
-
-
3Gain-
CEACAM21-
-
-
-
3Gain-
CEACAM3-
-
-
-
3Gain-
CEACAM4-
-
-
-
3Gain-
CEACAM5-
-
-
-
3Gain-
CEACAM6-
-
-
-
3Gain-
CEACAM7-
-
-
-
3Gain-
CEACAM8-
-
-
-
3Gain-
CEBPZ-
-
-
-
1Loss-
CEBPZOS-
-
-
-
1Loss-
CEL-
-
-
-
3Gain-
CEMP1-
-
-
-
1Loss-
CENPA-
-
-
-
1Loss-
CENPO-
-
-
-
1Loss-
CENPU-
-
-
-
1Loss-
CEP44-
-
-
-
1Loss-
CEP55-
-
-
-
1Loss-
CFAP43-
-
-
-
1Loss-
CFAP46-
-
-
-
3Gain-
CFAP58-
-
-
-
1Loss-
CFAP77-
-
-
-
3Gain-
CFAP97-
-
-
-
1Loss-
CFAP99-
-
-
-
1Loss-
CGREF1-
-
-
-
1Loss-
CH25H-
-
-
-
1Loss-
CHADL-
-
-
-
1Loss-
CHD5-
-
-
-
1Loss-
CHEK2-
-
-
-
1Loss-
CHMP2A-
-
-
-
3Gain-
CHRNA9-
-
-
-
1Loss-
CHST15-
-
-
-
3Gain-
CHTF18-
-
-
-
1Loss-
CHUK-
-
-
-
1Loss-
CIAO3-
-
-
-
1Loss-
CIB4-
-
-
-
1Loss-
CIC-
-
-
-
3Gain-
CKAP2-
-
-
-
1Loss-
CLC-
-
-
-
3Gain-
CLCN3-
-
-
-
1Loss-
CLCN7-
-
-
-
1Loss-
CLDN22-
-
-
-
1Loss-
CLDN24-
-
-
-
1Loss-
CLDN6-
-
-
-
1Loss-
CLDN9-
-
-
-
1Loss-
CLDND2-
-
-
-
3Gain-
CLIP3-
-
-
-
5Amp-
CLIP4-
-
-
-
1Loss-
CLNK-
-
-
-
1Loss-
CLRN2-
-
-
-
1Loss-
CLRN3-
-
-
-
3Gain-
CLUAP1-
-
-
-
1Loss-
CNFN-
-
-
-
3Gain-
CNMD-
-
-
-
1Loss-
CNNM1-
-
-
-
1Loss-
CNNM2-
-
-
-
1Loss-
CNOT2-
-
-
-
1Loss-
CNOT3-
-
-
-
4Gain-
CNTD2-
-
-
-
3Gain-
COG3-
-
-
-
1Loss-
COL17A1-
-
-
-
1Loss-
COL5A1-
-
-
-
3Gain-
COQ8B-
-
-
-
3Gain-
CORO7-
-
-
-
1Loss-
CORO7-PAM16-
-
-
-
1Loss-
COX15-
-
-
-
1Loss-
COX6B1-
-
-
-
5Amp-
COX6B2-
-
-
-
4Gain-
COX7A1-
-
-
-
3Gain-
CPAMD8p.E293K
Missense
SNP
0.481
2--
CPB2-
-
-
-
1Loss-
CPE-
-
-
-
1Loss-
CPEB2-
-
-
-
1Loss-
CPEB3-
-
-
-
1Loss-
CPLX1-
-
-
-
1Loss-
CPN1-
-
-
-
1Loss-
CPXM2-
-
-
-
3Gain-
CPZ-
-
-
-
1Loss-
CRAMP1-
-
-
-
1Loss-
CRB2-
-
-
-
0Del-
CREBBP-
-
-
-
1Loss-
CRIM1-
-
-
-
1Loss-
CRMP1-
-
-
-
1Loss-
CRTAC1-
-
-
-
1Loss-
CRYGSp.Y21C
Missense
SNP
0.492
2--
CTBP1-
-
-
-
1Loss-
CTBP2-
-
-
-
3Gain-
CTSO-
-
-
-
1Loss-
CUEDC2-
-
-
-
1Loss-
CUL3-
-
-
-
1Loss-
CUTC-
-
-
-
1Loss-
CUZD1-
-
-
-
3Gain-
CWF19L1-
-
-
-
1Loss-
CXCL17-
-
-
-
3Gain-
CXCR1p.V248I
Missense
SNP
0.493
2--
CYP17A1-
-
-
-
1Loss-
CYP1B1-
-
-
-
1Loss-
CYP21A2-
-
-
-
1Loss-
CYP26A1-
-
-
-
1Loss-
CYP26C1-
-
-
-
1Loss-
CYP2A13-
-
-
-
3Gain-
CYP2A6-
-
-
-
3Gain-
CYP2A7-
-
-
-
3Gain-
CYP2B6-
-
-
-
3Gain-
CYP2C18-
-
-
-
1Loss-
CYP2C19-
-
-
-
1Loss-
CYP2C8-
-
-
-
1Loss-
CYP2C9-
-
-
-
1Loss-
CYP2E1-
-
-
-
3Gain-
CYP2F1-
-
-
-
3Gain-
CYP2S1-
-
-
-
3Gain-
CYP4V2-
-
-
-
1Loss-
CYSLTR2-
-
-
-
1Loss-
CYTL1-
-
-
-
1Loss-
DAP-
-
-
-
2-DAP--SEMA5A
DBH-
-
-
-
3Gain-
DCAF16-
-
-
-
1Loss-
DCHS2-
-
-
-
1Loss-
DCST2p.Q671E
Missense
SNP
0.537
2--
DCTD-
-
-
-
1Loss-
DDX31-
-
-
-
3Gain-
DDX60-
-
-
-
1Loss-
DDX60L-
-
-
-
1Loss-
DECR2-
-
-
-
1Loss-
DEDD2-
-
-
-
3Gain-
DEF6p.R584H
Missense
SNP
0.436
2--
DENND1A-
-
-
-
0Del-
DEPDC5-
-
-
-
1Loss-
DGKH-
-
-
-
1Loss-
DGKQ-
-
-
-
1Loss-
DHRS12-
-
-
-
1Loss-
DHRS7-
-
-
-
1Loss-
DHX15-
-
-
-
1Loss-
DHX32-
-
-
-
3Gain-
DHX57-
-
-
-
1Loss-
DLEU7-
-
-
-
1Loss-
DLL3-
-
-
-
3Gain-
DMAC2-
-
-
-
3Gain-
DMBT1-
-
-
-
3Gain-
DMKN-
-
-
-
5Amp-
DMRTC2-
-
-
-
3Gain-
DNAAF3-
-
-
-
4Gain-
DNAJA3-
-
-
-
1Loss-
DNAJC11-
-
-
-
1Loss-
DNAJC15-
-
-
-
1Loss-
DNAJC27-
-
-
-
1Loss-
DNAJC5G-
-
-
-
1Loss-
DNASE1-
-
-
-
1Loss-
DNASE1L2-
-
-
-
1Loss-
DNMBP-
-
-
-
1Loss-
DNMT3A-
-
-
-
1Loss-
DNTT-
-
-
-
1Loss-
DOCK1-
-
-
-
3Gain-
DOK7-
-
-
-
1Loss-
DPCD-
-
-
-
1Loss-
DPF1-
-
-
-
4Gain-
DPRX-
-
-
-
3Gain-
DPY19L3-
-
-
-
3Gain-
DPY30-
-
-
-
1Loss-
DPYSL4-
-
-
-
3Gain-
DPYSL5-
-
-
-
1Loss-
DRC1-
-
-
-
1Loss-
DRD5-
-
-
-
1Loss-
DRG1-
-
-
-
1Loss-
DTNB-
-
-
-
1Loss-
DUSP18-
-
-
-
1Loss-
DUXA-
-
-
-
3Gain-
DYRK1B-
-
-
-
3Gain-
DYRK2-
-
-
-
1Loss-
E4F1-
-
-
-
1Loss-
EBF3-
-
-
-
3Gain-
EBPL-
-
-
-
1Loss-
ECH1-
-
-
-
4Gain-
ECHS1-
-
-
-
3Gain-
ECI1-
-
-
-
1Loss-
EDRF1-
-
-
-
3Gain-
EEF1AKMT2-
-
-
-
3Gain-
EFR3B-
-
-
-
1Loss-
EGLN2-
-
-
-
3Gain-
EHD3-
-
-
-
1Loss-
EID2-
-
-
-
3Gain-
EID2B-
-
-
-
3Gain-
EIF2AK2-
-
-
-
1Loss-
EIF2B4-
-
-
-
1Loss-
EIF2S1-
-
-
-
1Loss-
EIF3A-
-
-
-
3Gain-
EIF3K-
-
-
-
4Gain-
EIF4ENIF1-
-
-
-
1Loss-
ELF3p.M333I
Missense
SNP
0.511
2--
ELOB-
-
-
-
1Loss-
ELOVL3-
-
-
-
1Loss-
EME2-
-
-
-
1Loss-
EMID1-
-
-
-
1Loss-
EMILIN1-
-
-
-
1Loss-
EML5p.Q994*
Nonsense
SNP
0.392
2--
EMX2-
-
-
-
3Gain-
ENO4-
-
-
-
3Gain-
ENOPH1-
-
-
-
0Del-
ENOX1-
-
-
-
1Loss-
ENPP6-
-
-
-
1Loss-
ENTPD1-
-
-
-
1Loss-
ENTPD7-
-
-
-
1Loss-
EP300-
-
-
-
1Loss-
EPHA1p.R891Q
Missense
SNP
0.418
2--
EPN1-
-
-
-
4Gain-
EPS8L1-
-
-
-
4Gain-
EPSTI1-
-
-
-
1Loss-
ERBB3p.E332K
Missense
SNP
0.512
2--
ERCC2-
-
-
-
3Gain-
ERF-
-
-
-
3Gain-
ERICH4-
-
-
-
3Gain-
ERICH6B-
-
-
-
1Loss-
ERLIN1-
-
-
-
1Loss-
ERVV-1-
-
-
-
3Gain-
ERVV-2-
-
-
-
3Gain-
ESD-
-
-
-
1Loss-
ESPN-
-
-
-
1Loss-
ESR2-
-
-
-
1Loss-
ETFB-
-
-
-
3Gain-
ETFDH-
-
-
-
1Loss-
ETHE1-
-
-
-
3Gain-
ETV2-
-
-
-
5Amp-
EVC-
-
-
-
1Loss-
EVC2-
-
-
-
1Loss-
EWSR1-
-
-
-
1Loss-
EXOC6-
-
-
-
1Loss-
EXOSC1-
-
-
-
1Loss-
EXOSC5-
-
-
-
3Gain-
F11-
-
-
-
1Loss-
FABP2-
-
-
-
1Loss-
FAHD1-
-
-
-
1Loss-
FAM124A-
-
-
-
1Loss-
FAM124B-
-
-
-
1Loss-
FAM149Ap.R302W
Missense
SNP
1.000
1Loss-
FAM163B-
-
-
-
3Gain-
FAM173A-
-
-
-
1Loss-
FAM184B-
-
-
-
1Loss-
FAM187B-
-
-
-
5Amp-
FAM193A-
-
-
-
1Loss-
FAM198B-
-
-
-
1Loss-
FAM200B-
-
-
-
1Loss-
FAM204A-
-
-
-
3Gain-
FAM216B-
-
-
-
1Loss-
FAM218A-
-
-
-
1Loss-
FAM228A-
-
-
-
1Loss-
FAM228B-
-
-
-
1Loss-
FAM234A-
-
-
-
1Loss-
FAM24A-
-
-
-
3Gain-
FAM24B-
-
-
-
3Gain-
FAM45A-
-
-
-
3Gain-
FAM53A-
-
-
-
1Loss-
FAM53B-
-
-
-
3Gain-
FAM71D-
-
-
-
1Loss-
FAM71E2-
-
-
-
4Gain-
FAM98A-
-
-
-
1Loss-
FAM98C-
-
-
-
4Gain-
FANK1-
-
-
-
3Gain-
FAS-
-
-
-
1Loss-
FAT1-
-
-
-
1Loss-
FAT4-
-
-
-
1Loss-
FBL-
-
-
-
3Gain-
FBXL15-
-
-
-
1Loss-
FBXL16-
-
-
-
1Loss-
FBXL5-
-
-
-
1Loss-
FBXO17-
-
-
-
4Gain-
FBXO27-
-
-
-
4Gain-
FBXO7-
-
-
-
1Loss-
FBXO8-
-
-
-
1Loss-
FBXW4-
-
-
-
1Loss-
FBXW7-
-
-
-
1Loss-
FCAR-
-
-
-
4Gain-
FCGBP-
-
-
-
3Gain-
FCN1-
-
-
-
3Gain-
FCN2-
-
-
-
3Gain-
FESp.R818Q
Missense
SNP
0.532
2--
FEZ2-
-
-
-
1Loss-
FFAR1-
-
-
-
5Amp-
FFAR2-
-
-
-
5Amp-
FFAR3-
-
-
-
5Amp-
FFAR4-
-
-
-
1Loss-
FGA-
-
-
-
1Loss-
FGB-
-
-
-
1Loss-
FGF8-
-
-
-
1Loss-
FGFBP1-
-
-
-
1Loss-
FGFBP2-
-
-
-
1Loss-
FGFBP3-
-
-
-
1Loss-
FGFR2-
-
-
-
3Gain-
FGFR3-
-
-
-
1Loss-
FGFRL1-
-
-
-
1Loss-
FGG-
-
-
-
1Loss-
FHDC1-
-
-
-
1Loss-
FIZ1-
-
-
-
4Gain-
FKBP1B-
-
-
-
1Loss-
FLG2-
-
-
-
3Gain-
FLRT2-
-
-
-
3Gain-
FLYWCH1-
-
-
-
1Loss-
FLYWCH2-
-
-
-
1Loss-
FNDC3A-
-
-
-
1Loss-
FNDC4-
-
-
-
1Loss-
FNIP2-
-
-
-
1Loss-
FOSL2-
-
-
-
1Loss-
FOXI2-
-
-
-
3Gain-
FPR1p.E326K
Missense
SNP
0.283
3Gain-
FPR2-
-
-
-
3Gain-
FPR3-
-
-
-
3Gain-
FRA10AC1-
-
-
-
1Loss-
FRAT1-
-
-
-
1Loss-
FRAT2-
-
-
-
1Loss-
FRG1-
-
-
-
1Loss-
FRG2-
-
-
-
1Loss-
FRG2B-
-
-
-
3Gain-
FRMD1p.R354W
Missense
SNP
0.481
2--
FSTL5-
-
-
-
1Loss-
FUOM-
-
-
-
3Gain-
FXYD1-
-
-
-
5Amp-
FXYD3-
-
-
-
5Amp-
FXYD5-
-
-
-
5Amp-
FXYD7-
-
-
-
5Amp-
GABRA1-
-
-
-
3Gain-
GABRA6-
-
-
-
3Gain-
GABRG2-
-
-
-
3Gain-
GAK-
-
-
-
1Loss-
GAL3ST1-
-
-
-
1Loss-
GALM-
-
-
-
1Loss-
GALNT14-
-
-
-
1Loss-
GALNT7-
-
-
-
1Loss-
GALNTL6-
-
-
-
1Loss-
GALP-
-
-
-
4Gain-
GAPDHS-
-
-
-
5Amp-
GAREM2-
-
-
-
1Loss-
GAS2L1-
-
-
-
1Loss-
GBA3-
-
-
-
1Loss-
GBF1-
-
-
-
1Loss-
GBGT1-
-
-
-
3Gain-
GCKR-
-
-
-
1Loss-
GCSAML-
-
-
-
3Gain-
GCSAML-AS1-
-
-
-
3Gain-
GEMIN6-
-
-
-
1Loss-
GFER-
-
-
-
1Loss-
GFI1B-
-
-
-
3Gain-
GFRA1-
-
-
-
3Gain-
GGN-
-
-
-
4Gain-
GK3P-
-
-
-
1Loss-
GLIS2-
-
-
-
1Loss-
GLRA3-
-
-
-
1Loss-
GLRB-
-
-
-
1Loss-
GLRX3-
-
-
-
3Gain-
GLT6D1-
-
-
-
3Gain-
GLT8D1-
-
-
-
3Gain-
GLUD1-
-
-
-
1Loss-
GLYR1-
-
-
-
1Loss-
GMFG-
-
-
-
4Gain-
GNG13-
-
-
-
1Loss-
GNL3-
-
-
-
3Gain-
GNPTG-
-
-
-
1Loss-
GOLGA7B-
-
-
-
1Loss-
GOT1-
-
-
-
1Loss-
GP6-
-
-
-
4Gain-
GPALPP1-
-
-
-
1Loss-
GPATCH11-
-
-
-
1Loss-
GPATCH3-
-
-
-
1Loss-
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPHB5-
-
-
-
1Loss-
GPI-
-
-
-
3Gain-
GPM6A-
-
-
-
1Loss-
GPN1-
-
-
-
1Loss-
GPN2-
-
-
-
1Loss-
GPR135-
-
-
-
1Loss-
GPR153-
-
-
-
1Loss-
GPR21-
-
-
-
0Del-
GPR26-
-
-
-
3Gain-
GPR42-
-
-
-
5Amp-
GPR78-
-
-
-
1Loss-
GRAMD1A-
-
-
-
5Amp-
GRIA2-
-
-
-
1Loss-
GRIK5-
-
-
-
3Gain-
GRIN2Ap.V46M
Missense
SNP
0.512
2--
GRK4-
-
-
-
1Loss-
GRK5-
-
-
-
3Gain-
GRPEL1-
-
-
-
1Loss-
GSK3A-
-
-
-
3Gain-
GSTO1-
-
-
-
1Loss-
GSTO2-
-
-
-
1Loss-
GTF2F2-
-
-
-
1Loss-
GTF3C2-
-
-
-
1Loss-
GTF3C4-
-
-
-
3Gain-
GTF3C5-
-
-
-
3Gain-
GTPBP4-
-
-
-
1Loss-
GUCY1A1-
-
-
-
1Loss-
GUCY1B1-
-
-
-
1Loss-
HADHA-
-
-
-
1Loss-
HADHB-
-
-
-
1Loss-
HAGH-
-
-
-
1Loss-
HAGHL-
-
-
-
1Loss-
HAMP-
-
-
-
5Amp-
HAND2-
-
-
-
1Loss-
HAS1-
-
-
-
3Gain-
HAUS3-
-
-
-
1Loss-
HAUS5-
-
-
-
5Amp-
HBA1-
-
-
-
1Loss-
HBA2-
-
-
-
1Loss-
HBM-
-
-
-
1Loss-
HBQ1-
-
-
-
1Loss-
HBZ-
-
-
-
1Loss-
HCFC1R1-
-
-
-
1Loss-
HCST-
-
-
-
5Amp-
HEATR5B-
-
-
-
1Loss-
HECTD2-
-
-
-
1Loss-
HECW2p.I1406M
Missense
SNP
0.448
2--
HELLS-
-
-
-
1Loss-
HELT-
-
-
-
1Loss-
HES2-
-
-
-
1Loss-
HES3-
-
-
-
1Loss-
HGFAC-
-
-
-
1Loss-
HHEX-
-
-
-
1Loss-
HIC2-
-
-
-
2-AL158801.5--HIC2
HIF1A-
-
-
-
1Loss-
HIF1AN-
-
-
-
1Loss-
HIPK4-
-
-
-
3Gain-
HKR1-
-
-
-
3Gain-
HMGB2-
-
-
-
1Loss-
HMMR-
-
-
-
3Gain-
HMOX2-
-
-
-
1Loss-
HMX1-
-
-
-
1Loss-
HMX2-
-
-
-
3Gain-
HMX3-
-
-
-
3Gain-
HNRNPD-
-
-
-
0Del-
HNRNPDL-
-
-
-
0Del-
HNRNPL-
-
-
-
4Gain-
HNRNPLL-
-
-
-
1Loss-
HNRNPUL1-
-
-
-
3Gain-
HOGA1-
-
-
-
1Loss-
HORMAD2-
-
-
-
1Loss-
HPF1-
-
-
-
1Loss-
HPGD-
-
-
-
1Loss-
HPN-
-
-
-
5Amp-
HPS1-
-
-
-
1Loss-
HPS6-
-
-
-
1Loss-
HPSE2-
-
-
-
1Loss-
HRASp.Q61R
Missense
SNP
1.000
2--
HS3ST1-
-
-
-
1Loss-
HS3ST6-
-
-
-
1Loss-
HSCB-
-
-
-
1Loss-
HSPA12A-
-
-
-
3Gain-
HSPB6-
-
-
-
5Amp-
HSPBP1-
-
-
-
4Gain-
HTR2A-
-
-
-
1Loss-
HTR7-
-
-
-
1Loss-
HTRA1-
-
-
-
3Gain-
HTRA3-
-
-
-
1Loss-
HTT-
-
-
-
1Loss-
ICMT-
-
-
-
1Loss-
IDE-
-
-
-
1Loss-
IDI1-
-
-
-
1Loss-
IDI2-
-
-
-
1Loss-
IDUA-
-
-
-
1Loss-
IFIT1-
-
-
-
1Loss-
IFIT1B-
-
-
-
1Loss-
IFIT2-
-
-
-
1Loss-
IFIT3-
-
-
-
1Loss-
IFIT5-
-
-
-
1Loss-
IFNL1-
-
-
-
4Gain-
IFNL2-
-
-
-
4Gain-
IFNL3-
-
-
-
4Gain-
IFT140-
-
-
-
1Loss-
IFT172-
-
-
-
1Loss-
IGFALS-
-
-
-
1Loss-
IGFLR1-
-
-
-
5Amp-
IGSF23-
-
-
-
3Gain-
IKZF5-
-
-
-
3Gain-
IL11-
-
-
-
4Gain-
IL32-
-
-
-
1Loss-
INA-
-
-
-
1Loss-
ING2-
-
-
-
1Loss-
INPP5A-
-
-
-
3Gain-
INPP5F-
-
-
-
3Gain-
INPP5J-
-
-
-
1Loss-
INSYN2-
-
-
-
3Gain-
INTS6-
-
-
-
1Loss-
IRF2-
-
-
-
1Loss-
IRGC-
-
-
-
3Gain-
IRGQ-
-
-
-
3Gain-
ISOC2-
-
-
-
4Gain-
ITGB2p.V403M
Missense
SNP
0.585
2--
ITM2B-
-
-
-
1Loss-
ITPKC-
-
-
-
3Gain-
ITPRIP-
-
-
-
1Loss-
ITSN2-
-
-
-
1Loss-
JAKMIP1-
-
-
-
1Loss-
JAKMIP3-
-
-
-
3Gain-
JKAMP-
-
-
-
1Loss-
JMJD8-
-
-
-
1Loss-
JPT2-
-
-
-
1Loss-
KAZALD1-
-
-
-
1Loss-
KCNAB2-
-
-
-
1Loss-
KCNH5-
-
-
-
1Loss-
KCNIP2-
-
-
-
1Loss-
KCNIP4-
-
-
-
1Loss-
KCNK18-
-
-
-
3Gain-
KCNK3-
-
-
-
1Loss-
KCNK6-
-
-
-
4Gain-
KCNMB4-
-
-
-
1Loss-
KCNN4-
-
-
-
3Gain-
KCNRG-
-
-
-
1Loss-
KCTD4-
-
-
-
1Loss-
KCTD5-
-
-
-
1Loss-
KHK-
-
-
-
1Loss-
KIAA0232-
-
-
-
1Loss-
KIAA0355-
-
-
-
3Gain-
KIF11-
-
-
-
1Loss-
KIF1Bp.Q1095E
Missense
SNP
0.479
2--
KIF20B-
-
-
-
1Loss-
KIF3C-
-
-
-
1Loss-
KIR2DL1-
-
-
-
4Gain-
KIR2DL3-
-
-
-
4Gain-
KIR2DL4-
-
-
-
4Gain-
KIR3DL1-
-
-
-
4Gain-
KIR3DL2-
-
-
-
4Gain-
KIR3DL3-
-
-
-
4Gain-
KIRREL2-
-
-
-
5Amp-
KLC3-
-
-
-
3Gain-
KLHL2-
-
-
-
1Loss-
KLHL21-
-
-
-
1Loss-
KLHL29-
-
-
-
1Loss-
KLHL34p.G421S
Missense
SNP
1.000
NDND-
KLKB1-
-
-
-
1Loss-
KLLN-
-
-
-
1Loss-
KMT2B-
-
-
-
5Amp-
KMT5C-
-
-
-
4Gain-
KNDC1-
-
-
-
3Gain-
KPNA3-
-
-
-
1Loss-
KREMEN1-
-
-
-
1Loss-
KREMEN2-
-
-
-
1Loss-
KRTCAP3-
-
-
-
1Loss-
KRTDAP-
-
-
-
5Amp-
L34079.1-
-
-
-
3Gain-
L3HYPDH-
-
-
-
1Loss-
L3MBTL2-
-
-
-
1Loss-
LACC1-
-
-
-
1Loss-
LAIR1-
-
-
-
4Gain-
LAIR2-
-
-
-
4Gain-
LAP3-
-
-
-
1Loss-
LARGE1-
-
-
-
1Loss-
LARP4B-
-
-
-
1Loss-
LBH-
-
-
-
1Loss-
LBX1-
-
-
-
1Loss-
LCLAT1-
-
-
-
1Loss-
LCN1-
-
-
-
3Gain-
LCOR-
-
-
-
1Loss-
LCORL-
-
-
-
1Loss-
LCP1-
-
-
-
1Loss-
LDB1-
-
-
-
1Loss-
LDB2-
-
-
-
1Loss-
LDB3-
-
-
-
1Loss-
LENG1-
-
-
-
4Gain-
LENG8-
-
-
-
4Gain-
LENG9-
-
-
-
4Gain-
LETM1-
-
-
-
1Loss-
LEUTX-
-
-
-
3Gain-
LGALS13-
-
-
-
3Gain-
LGALS14-
-
-
-
3Gain-
LGALS16-
-
-
-
3Gain-
LGALS4-
-
-
-
4Gain-
LGALS7-
-
-
-
4Gain-
LGALS7B-
-
-
-
4Gain-
LGI1-
-
-
-
1Loss-
LGI2-
-
-
-
1Loss-
LGI4-
-
-
-
5Amp-
LHPP-
-
-
-
3Gain-
LIF-
-
-
-
1Loss-
LILRA1-
-
-
-
4Gain-
LILRA2-
-
-
-
4Gain-
LILRA4-
-
-
-
4Gain-
LILRA5-
-
-
-
4Gain-
LILRA6-
-
-
-
4Gain-
LILRB1-
-
-
-
4Gain-
LILRB2-
-
-
-
4Gain-
LILRB3-
-
-
-
4Gain-
LILRB4-
-
-
-
4Gain-
LILRB5-
-
-
-
4Gain-
LIM2-
-
-
-
3Gain-
LIMK2-
-
-
-
1Loss-
LIN37-
-
-
-
5Amp-
LIPA-
-
-
-
1Loss-
LIPE-
-
-
-
3Gain-
LIPF-
-
-
-
1Loss-
LIPJ-
-
-
-
1Loss-
LIPK-
-
-
-
1Loss-
LIPM-
-
-
-
1Loss-
LIPN-
-
-
-
1Loss-
LMF1-
-
-
-
1Loss-
LOXL4-
-
-
-
1Loss-
LRAT-
-
-
-
1Loss-
LRCH1-
-
-
-
1Loss-
LRFN1-
-
-
-
4Gain-
LRFN3-
-
-
-
5Amp-
LRP1p.A3873T
Missense
SNP
0.469
2--
LRP2BP-
-
-
-
1Loss-
LRPAP1-
-
-
-
1Loss-
LRRC27-
-
-
-
3Gain-
LRRC63-
-
-
-
1Loss-
LRRC9-
-
-
-
1Loss-
LSM14A-
-
-
-
3Gain-
LSR-
-
-
-
5Amp-
LTBP1-
-
-
-
1Loss-
LTBP4-
-
-
-
3Gain-
LUC7L-
-
-
-
1Loss-
LYAR-
-
-
-
1Loss-
LYPD3-
-
-
-
3Gain-
LYPD4-
-
-
-
3Gain-
LYPD5-
-
-
-
3Gain-
LZTS2-
-
-
-
1Loss-
MAD2L1-
-
-
-
1Loss-
MAEA-
-
-
-
1Loss-
MAG-
-
-
-
5Amp-
MAN2B2-
-
-
-
1Loss-
MAP3K10-
-
-
-
3Gain-
MAP4K1-
-
-
-
4Gain-
MAP4K3-
-
-
-
1Loss-
MAP7D3p.L269F
Missense
SNP
1.000
NDND-
MAP9-
-
-
-
1Loss-
MAPK8IP3-
-
-
-
1Loss-
MAPRE3-
-
-
-
1Loss-
MARCH1-
-
-
-
1Loss-
MARCH5-
-
-
-
1Loss-
MARVELD1-
-
-
-
1Loss-
MAT2B-
-
-
-
3Gain-
MBOAT7-
-
-
-
4Gain-
MCMBP-
-
-
-
3Gain-
MCRIP2-
-
-
-
1Loss-
MED22-
-
-
-
3Gain-
MED27-
-
-
-
3Gain-
MED28-
-
-
-
1Loss-
MED29-
-
-
-
3Gain-
MED4-
-
-
-
1Loss-
MEFV-
-
-
-
1Loss-
MEGF8-
-
-
-
3Gain-
MEIOB-
-
-
-
1Loss-
MEMO1-
-
-
-
1Loss-
METRN-
-
-
-
1Loss-
METTL14-
-
-
-
1Loss-
METTL26-
-
-
-
1Loss-
MFAP3L-
-
-
-
1Loss-
MFSD10-
-
-
-
1Loss-
MFSD13A-
-
-
-
1Loss-
MFSD2B-
-
-
-
1Loss-
MGMT-
-
-
-
3Gain-
MGRN1-
-
-
-
1Loss-
MIA-
-
-
-
3Gain-
MIA-RAB4B-
-
-
-
3Gain-
MINPP1-
-
-
-
1Loss-
MKI67-
-
-
-
3Gain-
MLNR-
-
-
-
1Loss-
MLST8-
-
-
-
1Loss-
MMP21-
-
-
-
3Gain-
MMP25-
-
-
-
1Loss-
MMRN2-
-
-
-
1Loss-
MMS19-
-
-
-
1Loss-
MNAT1-
-
-
-
1Loss-
MND1-
-
-
-
1Loss-
MORC2-
-
-
-
1Loss-
MORN2-
-
-
-
1Loss-
MORN4-
-
-
-
1Loss-
MPG-
-
-
-
1Loss-
MPP5-
-
-
-
1Loss-
MPV17-
-
-
-
1Loss-
MRFAP1-
-
-
-
1Loss-
MRFAP1L1-
-
-
-
1Loss-
MRPL28-
-
-
-
1Loss-
MRPL33-
-
-
-
1Loss-
MRPL43-
-
-
-
1Loss-
MRPL44-
-
-
-
1Loss-
MRPS12-
-
-
-
4Gain-
MRPS2-
-
-
-
3Gain-
MRPS34-
-
-
-
1Loss-
MSANTD1-
-
-
-
1Loss-
MSLN-
-
-
-
1Loss-
MSLNL-
-
-
-
1Loss-
MSMO1-
-
-
-
1Loss-
MSRB1-
-
-
-
1Loss-
MSX1-
-
-
-
1Loss-
MT3p.S10F
Missense
SNP
0.493
2--
MTFP1-
-
-
-
1Loss-
MTG1-
-
-
-
3Gain-
MTMR3-
-
-
-
1Loss-
MTNR1A-
-
-
-
1Loss-
MXD4-
-
-
-
1Loss-
MYADM-
-
-
-
4Gain-
MYL5-
-
-
-
1Loss-
MYMK-
-
-
-
3Gain-
MYO9Ap.D872N
Missense
SNP
0.491
2--
MYOF-
-
-
-
1Loss-
MYOZ2-
-
-
-
1Loss-
MZF1-
-
-
-
3Gain-
N4BP2-
-
-
-
1Loss-
NAA60-
-
-
-
1Loss-
NAF1-
-
-
-
1Loss-
NANOS1-
-
-
-
3Gain-
NAT14-
-
-
-
4Gain-
NAT8L-
-
-
-
1Loss-
NCAPG-
-
-
-
1Loss-
NCCRP1-
-
-
-
4Gain-
NCOA1-
-
-
-
1Loss-
NCR1-
-
-
-
4Gain-
NDNF-
-
-
-
1Loss-
NDST3-
-
-
-
1Loss-
NDST4-
-
-
-
1Loss-
NDUFA3-
-
-
-
4Gain-
NDUFAF7-
-
-
-
1Loss-
NDUFB10-
-
-
-
1Loss-
NDUFB8-
-
-
-
1Loss-
NEFH-
-
-
-
1Loss-
NEIL3-
-
-
-
1Loss-
NEK1-
-
-
-
1Loss-
NEK3-
-
-
-
1Loss-
NEK4-
-
-
-
3Gain-
NEK5-
-
-
-
1Loss-
NELFA-
-
-
-
1Loss-
NEURL1-
-
-
-
1Loss-
NF2-
-
-
-
1Loss-
NFKB2-
-
-
-
1Loss-
NFKBIB-
-
-
-
4Gain-
NFKBID-
-
-
-
5Amp-
NHLRC4-
-
-
-
1Loss-
NIPSNAP1-
-
-
-
1Loss-
NKG7-
-
-
-
3Gain-
NKX1-1-
-
-
-
1Loss-
NKX1-2-
-
-
-
3Gain-
NKX2-3-
-
-
-
1Loss-
NKX3-2-
-
-
-
1Loss-
NKX6-2-
-
-
-
3Gain-
NLRC3-
-
-
-
1Loss-
NLRC4-
-
-
-
1Loss-
NLRP11-
-
-
-
4Gain-
NLRP12-
-
-
-
4Gain-
NLRP13-
-
-
-
4Gain-
NLRP2-
-
-
-
4Gain-
NLRP3p.K1015R
Missense
SNP
0.310
3Gain-
NLRP4-
-
-
-
4Gain-
NLRP5-
-
-
-
4Gain-
NLRP7-
-
-
-
4Gain-
NLRP8-
-
-
-
4Gain-
NLRP9-
-
-
-
4Gain-
NME3-
-
-
-
1Loss-
NME4-
-
-
-
1Loss-
NMRAL1-
-
-
-
1Loss-
NOC3L-
-
-
-
1Loss-
NOL9-
-
-
-
1Loss-
NOLC1-
-
-
-
1Loss-
NOP14-
-
-
-
1Loss-
NOXO1-
-
-
-
1Loss-
NPHS1-
-
-
-
5Amp-
NPM3-
-
-
-
1Loss-
NPRL3-
-
-
-
1Loss-
NPS-
-
-
-
3Gain-
NPW-
-
-
-
1Loss-
NPY1R-
-
-
-
1Loss-
NPY2R-
-
-
-
1Loss-
NPY5R-
-
-
-
1Loss-
NRBP1-
-
-
-
1Loss-
NSD2-
-
-
-
1Loss-
NSG1-
-
-
-
1Loss-
NSMCE4A-
-
-
-
3Gain-
NT5C2-
-
-
-
1Loss-
NTHL1-
-
-
-
1Loss-
NTN3-
-
-
-
1Loss-
NTNG2-
-
-
-
3Gain-
NUBP2-
-
-
-
1Loss-
NUDCD2-
-
-
-
3Gain-
NUDT15-
-
-
-
1Loss-
NUDT16L1-
-
-
-
1Loss-
NUFIP1-
-
-
-
1Loss-
NUMBL-
-
-
-
3Gain-
OAT-
-
-
-
3Gain-
OBP2A-
-
-
-
3Gain-
OBP2B-
-
-
-
3Gain-
OGA-
-
-
-
1Loss-
OLFM1-
-
-
-
3Gain-
OLFM4-
-
-
-
1Loss-
OPALIN-
-
-
-
1Loss-
OPN4-
-
-
-
1Loss-
OR11L1-
-
-
-
3Gain-
OR13G1-
-
-
-
3Gain-
OR14A16-
-
-
-
3Gain-
OR14A2-
-
-
-
3Gain-
OR14K1-
-
-
-
3Gain-
OR1C1-
-
-
-
3Gain-
OR1F1-
-
-
-
1Loss-
OR1K1-
-
-
-
0Del-
OR1L6-
-
-
-
0Del-
OR2AJ1-
-
-
-
3Gain-
OR2AK2-
-
-
-
3Gain-
OR2B11-
-
-
-
3Gain-
OR2C1-
-
-
-
1Loss-
OR2C3-
-
-
-
3Gain-
OR2G2-
-
-
-
3Gain-
OR2G3-
-
-
-
3Gain-
OR2L2-
-
-
-
3Gain-
OR2L5-
-
-
-
3Gain-
OR2L8-
-
-
-
3Gain-
OR2T8-
-
-
-
3Gain-
OR2W3-
-
-
-
3Gain-
OR5C1-
-
-
-
0Del-
OR6F1-
-
-
-
3Gain-
OSBP2-
-
-
-
1Loss-
OSCAR-
-
-
-
4Gain-
OSM-
-
-
-
1Loss-
OST4-
-
-
-
1Loss-
OTOF-
-
-
-
1Loss-
OTOP1-
-
-
-
1Loss-
OVOL3-
-
-
-
3Gain-
PABPC4L-
-
-
-
3Gain-
PACRGL-
-
-
-
1Loss-
PAEP-
-
-
-
3Gain-
PAF1-
-
-
-
4Gain-
PAFAH1B3-
-
-
-
3Gain-
PAK4-
-
-
-
4Gain-
PALLD-
-
-
-
1Loss-
PAM16-
-
-
-
1Loss-
PANK1-
-
-
-
1Loss-
PAOX-
-
-
-
3Gain-
PAPSS2-
-
-
-
1Loss-
PAQR4-
-
-
-
1Loss-
PATZ1-
-
-
-
1Loss-
PAX2-
-
-
-
1Loss-
PCARE-
-
-
-
1Loss-
PCDH10-
-
-
-
3Gain-
PCDH17-
-
-
-
3Gain-
PCDH18-
-
-
-
3Gain-
PCDH7-
-
-
-
1Loss-
PCDH8-
-
-
-
1Loss-
PCDH9-
-
-
-
3Gain-
PCDHA4p.T640M
Missense
SNP
0.505
2--
PCGF3-
-
-
-
1Loss-
PCGF5-
-
-
-
1Loss-
PCGF6-
-
-
-
1Loss-
PCNX4-
-
-
-
1Loss-
PDCD11-
-
-
-
1Loss-
PDCD2L-
-
-
-
3Gain-
PDCL-
-
-
-
0Del-
PDE5A-
-
-
-
1Loss-
PDE6B-
-
-
-
1Loss-
PDE6C-
-
-
-
1Loss-
PDGFC-
-
-
-
1Loss-
PDIA2-
-
-
-
1Loss-
PDLIM1-
-
-
-
1Loss-
PDLIM3-
-
-
-
1Loss-
PDPK1-
-
-
-
1Loss-
PDS5A-
-
-
-
2-RBM47--PDS5A
PDZD7-
-
-
-
1Loss-
PDZD8-
-
-
-
3Gain-
PEG3-
-
-
-
3Gain-
PES1-
-
-
-
1Loss-
PFN4-
-
-
-
1Loss-
PGAM1-
-
-
-
1Loss-
PGP-
-
-
-
1Loss-
PHF11-
-
-
-
1Loss-
PHF13-
-
-
-
1Loss-
PHLDB3-
-
-
-
3Gain-
PI4K2A-
-
-
-
1Loss-
PI4K2B-
-
-
-
1Loss-
PIGG-
-
-
-
1Loss-
PIGH-
-
-
-
1Loss-
PIGQ-
-
-
-
1Loss-
PIGV-
-
-
-
1Loss-
PIK3AP1-
-
-
-
1Loss-
PIK3IP1-
-
-
-
1Loss-
PINLYP-
-
-
-
3Gain-
PISD-
-
-
-
1Loss-
PITX3-
-
-
-
1Loss-
PKD1-
-
-
-
1Loss-
PKD2L1-
-
-
-
1Loss-
PKMYT1-
-
-
-
1Loss-
PLA2G3-
-
-
-
1Loss-
PLA2G4A-
-
-
-
3Gain-
PLAUR-
-
-
-
3Gain-
PLB1-
-
-
-
1Loss-
PLCE1p.Q119*
Nonsense
SNP
1.000
1Loss-
PLD3-
-
-
-
3Gain-
PLEK2-
-
-
-
1Loss-
PLEKHA1-
-
-
-
3Gain-
PLEKHF1-
-
-
-
3Gain-
PLEKHG2-
-
-
-
3Gain-
PLEKHG5-
-
-
-
1Loss-
PLEKHH1-
-
-
-
1Loss-
PLPP4-
-
-
-
3Gain-
PLRG1-
-
-
-
1Loss-
PNLIP-
-
-
-
3Gain-
PNLIPRP1-
-
-
-
3Gain-
PNLIPRP2-
-
-
-
3Gain-
PNLIPRP3-
-
-
-
3Gain-
POLL-
-
-
-
1Loss-
POLN-
-
-
-
1Loss-
POLR2I-
-
-
-
3Gain-
POLR3K-
-
-
-
1Loss-
POMC-
-
-
-
1Loss-
POMT1-
-
-
-
3Gain-
POP4-
-
-
-
3Gain-
POU2F2-
-
-
-
3Gain-
PPARGC1A-
-
-
-
1Loss-
PPID-
-
-
-
1Loss-
PPL-
-
-
-
1Loss-
PPM1A-
-
-
-
1Loss-
PPM1G-
-
-
-
1Loss-
PPP1CB-
-
-
-
1Loss-
PPP1R12C-
-
-
-
4Gain-
PPP1R13L-
-
-
-
3Gain-
PPP1R14A-
-
-
-
4Gain-
PPP1R26-
-
-
-
3Gain-
PPP1R3C-
-
-
-
1Loss-
PPP2R1A-
-
-
-
3Gain-
PPP2R2C-
-
-
-
1Loss-
PPP2R2D-
-
-
-
3Gain-
PPP2R5E-
-
-
-
1Loss-
PPP6R1-
-
-
-
4Gain-
PPRC1-
-
-
-
1Loss-
PPWD1p.D207N
Missense
SNP
0.490
2--
PRAP1-
-
-
-
3Gain-
PRDM5-
-
-
-
1Loss-
PRDX3-
-
-
-
3Gain-
PREB-
-
-
-
1Loss-
PRIMPOL-
-
-
-
1Loss-
PRKCG-
-
-
-
4Gain-
PRKCH-
-
-
-
1Loss-
PRKD3-
-
-
-
1Loss-
PRLHR-
-
-
-
3Gain-
PRODH2-
-
-
-
5Amp-
PROM1-
-
-
-
1Loss-
PROSER3-
-
-
-
5Amp-
PRPF31-
-
-
-
4Gain-
PRR14L-
-
-
-
1Loss-
PRR19-
-
-
-
3Gain-
PRR26-
-
-
-
1Loss-
PRR30-
-
-
-
1Loss-
PRR35-
-
-
-
1Loss-
PRRC2B-
-
-
-
3Gain-
PRRT1B-
-
-
-
3Gain-
PRSS12-
-
-
-
1Loss-
PRSS21-
-
-
-
1Loss-
PRSS22-
-
-
-
1Loss-
PRSS27-
-
-
-
1Loss-
PRSS33-
-
-
-
1Loss-
PRSS41-
-
-
-
1Loss-
PRX-
-
-
-
3Gain-
PSAPL1-
-
-
-
1Loss-
PSD-
-
-
-
1Loss-
PSENEN-
-
-
-
5Amp-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
3Gain-
PSG3-
-
-
-
3Gain-
PSG4-
-
-
-
3Gain-
PSG5-
-
-
-
3Gain-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
3Gain-
PSG9-
-
-
-
3Gain-
PSMC4-
-
-
-
3Gain-
PSMD8-
-
-
-
4Gain-
PSTK-
-
-
-
3Gain-
PTEN-
-
-
-
1Loss-
PTPRB-
-
-
-
1Loss-
PTPRE-
-
-
-
3Gain-
PTPRH-
-
-
-
4Gain-
PTRHD1-
-
-
-
1Loss-
PTX3p.K191N
Missense
SNP
0.444
2--
PTX4-
-
-
-
1Loss-
PVR-
-
-
-
3Gain-
PWWP2B-
-
-
-
3Gain-
PYROXD2-
-
-
-
1Loss-
QDPR-
-
-
-
1Loss-
QPCT-
-
-
-
1Loss-
QRFPR-
-
-
-
1Loss-
R3HCC1L-
-
-
-
1Loss-
RAB10-
-
-
-
1Loss-
RAB11FIP2-
-
-
-
3Gain-
RAB11FIP3-
-
-
-
1Loss-
RAB26-
-
-
-
1Loss-
RAB28-
-
-
-
1Loss-
RAB40C-
-
-
-
1Loss-
RAB4B-
-
-
-
3Gain-
RAB4B-EGLN2-
-
-
-
3Gain-
RABAC1-
-
-
-
3Gain-
RABGAP1-
-
-
-
0Del-
RAD51B-
-
-
-
1Loss-
RALGDS-
-
-
-
3Gain-
RANGAP1-
-
-
-
1Loss-
RAPGEF1-
-
-
-
3Gain-
RAPGEF2-
-
-
-
1Loss-
RASGRP3-
-
-
-
1Loss-
RASGRP4-
-
-
-
4Gain-
RASL10A-
-
-
-
1Loss-
RB1-
-
-
-
1Loss-
RBKS-
-
-
-
1Loss-
RBM42-
-
-
-
5Amp-
RBM46-
-
-
-
1Loss-
RBM47-
-
-
-
1LossRBM47--PDS5A
RBP4-
-
-
-
1Loss-
RBPJ-
-
-
-
1Loss-
RBX1-
-
-
-
1Loss-
RC3H2-
-
-
-
0Del-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
RDH11-
-
-
-
1Loss-
RDH12-
-
-
-
1Loss-
RDH13-
-
-
-
4Gain-
REXO4-
-
-
-
3Gain-
RFPL1-
-
-
-
1Loss-
RFPL2-
-
-
-
1Loss-
RFPL3-
-
-
-
1Loss-
RFPL4A-
-
-
-
4Gain-
RFPL4AL1-
-
-
-
4Gain-
RFX4p.E392D
Missense
SNP
0.475
2--
RGCC-
-
-
-
1Loss-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS1-
-
-
-
3Gain-
RGS10-
-
-
-
3Gain-
RGS11-
-
-
-
1Loss-
RGS12-
-
-
-
1Loss-
RGS13-
-
-
-
3Gain-
RGS18-
-
-
-
3Gain-
RGS2-
-
-
-
3Gain-
RGS21-
-
-
-
3Gain-
RHBDD3-
-
-
-
1Loss-
RHBDF1-
-
-
-
1Loss-
RHBDL1-
-
-
-
1Loss-
RHOH-
-
-
-
1Loss-
RHOJ-
-
-
-
1Loss-
RHOT2-
-
-
-
1Loss-
RINL-
-
-
-
4Gain-
RMDN2-
-
-
-
1Loss-
RNASEH2B-
-
-
-
1Loss-
RNF151-
-
-
-
1Loss-
RNF175-
-
-
-
1Loss-
RNF185-
-
-
-
1Loss-
RNF207-
-
-
-
1Loss-
RNF212-
-
-
-
1Loss-
RNF215-
-
-
-
1Loss-
RNF225-
-
-
-
3Gain-
RNF4-
-
-
-
1Loss-
RNLS-
-
-
-
1Loss-
RNPS1-
-
-
-
1Loss-
ROCK1-
-
-
-
3Gain-
ROGDI-
-
-
-
1Loss-
RPEL1-
-
-
-
1Loss-
RPL22-
-
-
-
1Loss-
RPL28-
-
-
-
4Gain-
RPL3L-
-
-
-
1Loss-
RPL7A-
-
-
-
3Gain-
RPP30-
-
-
-
1Loss-
RPS16-
-
-
-
3Gain-
RPS19-
-
-
-
3Gain-
RPS2-
-
-
-
1Loss-
RPS5-
-
-
-
3Gain-
RPS9-
-
-
-
4Gain-
RPUSD1-
-
-
-
1Loss-
RRP12-
-
-
-
1Loss-
RSPRY1p.E258K
Missense
SNP
0.589
2--
RTCB-
-
-
-
1Loss-
RTN1-
-
-
-
1Loss-
RUBCNL-
-
-
-
1Loss-
RWDD4-
-
-
-
1Loss-
RXFP1-
-
-
-
1Loss-
RXRA-
-
-
-
3Gain-
RYR1p.P1736S
Missense
SNP
0.729
4Gain-
S100P-
-
-
-
1Loss-
SAMD4B-
-
-
-
4Gain-
SAP30-
-
-
-
1Loss-
SARDH-
-
-
-
3Gain-
SARS2-
-
-
-
4Gain-
SBK2-
-
-
-
4Gain-
SBK3-
-
-
-
4Gain-
SBSN-
-
-
-
5Amp-
SCART1-
-
-
-
3Gain-
SCCPDH-
-
-
-
3Gain-
SCD-
-
-
-
1Loss-
SCG2-
-
-
-
1Loss-
SCGB2B2-
-
-
-
3Gain-
SCN1B-
-
-
-
5Amp-
SCRG1-
-
-
-
1Loss-
SDHAF1-
-
-
-
5Amp-
SEC14L2-
-
-
-
1Loss-
SEC14L3-
-
-
-
1Loss-
SEC14L4-
-
-
-
1Loss-
SEC14L6-
-
-
-
1Loss-
SEC23IP-
-
-
-
3Gain-
SEC24D-
-
-
-
1Loss-
SEC31B-
-
-
-
1Loss-
SEL1L3-
-
-
-
1Loss-
SELENOI-
-
-
-
1Loss-
SELENOM-
-
-
-
1Loss-
SELENOV-
-
-
-
3Gain-
SEMA4G-
-
-
-
1Loss-
SEMA5A-
-
-
-
2-DAP--SEMA5A
SEPSECS-
-
-
-
1Loss-
SEPT12-
-
-
-
1Loss-
SERP2-
-
-
-
1Loss-
SERPINE2-
-
-
-
1Loss-
SERPINE3-
-
-
-
1Loss-
SERTAD1-
-
-
-
3Gain-
SERTAD3-
-
-
-
3Gain-
SETDB2-
-
-
-
1Loss-
SETX-
-
-
-
3Gain-
SF3A1-
-
-
-
1Loss-
SF3B6-
-
-
-
1Loss-
SFI1-
-
-
-
1Loss-
SFN-
-
-
-
1Loss-
SFR1-
-
-
-
1Loss-
SFRP2-
-
-
-
1Loss-
SFRP5-
-
-
-
1Loss-
SFXN2-
-
-
-
1Loss-
SFXN3-
-
-
-
1Loss-
SFXN4-
-
-
-
3Gain-
SGPP1-
-
-
-
1Loss-
SH3BP2-
-
-
-
1Loss-
SH3PXD2A-
-
-
-
1Loss-
SH3RF1-
-
-
-
1Loss-
SH3TC1-
-
-
-
1Loss-
SHISA7-
-
-
-
4Gain-
SHKBP1-
-
-
-
3Gain-
SHLD2-
-
-
-
1Loss-
SHTN1-
-
-
-
3Gain-
SIAH3-
-
-
-
1Loss-
SIGLEC10-
-
-
-
3Gain-
SIGLEC12-
-
-
-
3Gain-
SIGLEC14-
-
-
-
3Gain-
SIGLEC5-
-
-
-
3Gain-
SIGLEC6-
-
-
-
3Gain-
SIGLEC8-
-
-
-
3Gain-
SIPA1L3-
-
-
-
4Gain-
SIRT2-
-
-
-
4Gain-
SIX1-
-
-
-
1Loss-
SIX4-
-
-
-
1Loss-
SIX6-
-
-
-
1Loss-
SLBP-
-
-
-
1Loss-
SLC16A12-
-
-
-
1Loss-
SLC18A2-
-
-
-
3Gain-
SLC25A28-
-
-
-
1Loss-
SLC25A30-
-
-
-
1Loss-
SLC25A4-
-
-
-
1Loss-
SLC26A1-
-
-
-
1Loss-
SLC27A5-
-
-
-
3Gain-
SLC2A6-
-
-
-
3Gain-
SLC2A9-
-
-
-
1Loss-
SLC30A3-
-
-
-
1Loss-
SLC30A6-
-
-
-
1Loss-
SLC34A2-
-
-
-
1Loss-
SLC35E4-
-
-
-
1Loss-
SLC35F6-
-
-
-
1Loss-
SLC35G1-
-
-
-
1Loss-
SLC38A6-
-
-
-
1Loss-
SLC49A3-
-
-
-
1Loss-
SLC4A1AP-
-
-
-
1Loss-
SLC5A1-
-
-
-
1Loss-
SLC5A4-
-
-
-
1Loss-
SLC5A6-
-
-
-
1Loss-
SLC7A11-
-
-
-
3Gain-
SLC8A1-
-
-
-
1Loss-
SLC9A3R2-
-
-
-
1Loss-
SLF2-
-
-
-
1Loss-
SLIT1-
-
-
-
1Loss-
SLIT2-
-
-
-
1Loss-
SLITRK1-
-
-
-
3Gain-
SLITRK5-
-
-
-
3Gain-
SLITRK6-
-
-
-
3Gain-
SLK-
-
-
-
1Loss-
SLX4-
-
-
-
1Loss-
SMARCA4p.E520K
Missense
SNP
0.532
2--
SMG9-
-
-
-
3Gain-
SMIM17-
-
-
-
3Gain-
SMIM2-
-
-
-
1Loss-
SMIM20-
-
-
-
1Loss-
SMIM22-
-
-
-
1Loss-
SMTN-
-
-
-
1Loss-
SNAPC1-
-
-
-
1Loss-
SNCG-
-
-
-
1Loss-
SNRNP25-
-
-
-
1Loss-
SNRPA-
-
-
-
3Gain-
SNX17-
-
-
-
1Loss-
SNX25-
-
-
-
1Loss-
SOD3-
-
-
-
1Loss-
SORBS1-
-
-
-
1Loss-
SORBS2-
-
-
-
1Loss-
SORCS1-
-
-
-
1Loss-
SORCS2-
-
-
-
1Loss-
SORCS3-
-
-
-
1Loss-
SOS1-
-
-
-
1Loss-
SOX8-
-
-
-
1Loss-
SPACA6-
-
-
-
3Gain-
SPACA9-
-
-
-
3Gain-
SPARCL1p.I157M
Missense
SNP
0.474
2--
SPAST-
-
-
-
1Loss-
SPATA4-
-
-
-
1Loss-
SPATA5-
-
-
-
3Gain-
SPCS1-
-
-
-
3Gain-
SPCS3-
-
-
-
1Loss-
SPDYA-
-
-
-
1Loss-
SPERT-
-
-
-
1Loss-
SPINT2-
-
-
-
4Gain-
SPOCK3-
-
-
-
1Loss-
SPON2-
-
-
-
1Loss-
SPRED3-
-
-
-
4Gain-
SPRN-
-
-
-
3Gain-
SPRY1-
-
-
-
3Gain-
SPRYD7-
-
-
-
1Loss-
SPSB3-
-
-
-
1Loss-
SPTBN4-
-
-
-
3Gain-
SRD5A2-
-
-
-
1Loss-
SRL-
-
-
-
1Loss-
SRRM2-
-
-
-
1Loss-
SRRM5-
-
-
-
3Gain-
SRSF7-
-
-
-
1Loss-
SSC5D-
-
-
-
4Gain-
SSTR5-
-
-
-
1Loss-
STAMBPL1-
-
-
-
1Loss-
STIM2-
-
-
-
1Loss-
STK32B-
-
-
-
1Loss-
STK32C-
-
-
-
3Gain-
STKLD1-
-
-
-
3Gain-
STN1-
-
-
-
1Loss-
STOX2-
-
-
-
1Loss-
STRBP-
-
-
-
0Del-
STRN-
-
-
-
1Loss-
STUB1-
-
-
-
1Loss-
STX18-
-
-
-
1Loss-
SUCLA2-
-
-
-
1Loss-
SUFU-
-
-
-
1Loss-
SUGT1-
-
-
-
1Loss-
SULT6B1-
-
-
-
1Loss-
SUPT5H-
-
-
-
3Gain-
SUPT7L-
-
-
-
1Loss-
SURF1-
-
-
-
3Gain-
SURF2-
-
-
-
3Gain-
SURF4-
-
-
-
3Gain-
SURF6-
-
-
-
3Gain-
SVILp.G1485E
Missense
SNP
0.577
2--
SYCE1-
-
-
-
3Gain-
SYCN-
-
-
-
4Gain-
SYN3-
-
-
-
1Loss-
SYNE2-
-
-
-
1Loss-
SYNE4-
-
-
-
5Amp-
SYNGR3-
-
-
-
1Loss-
SYNPO2-
-
-
-
1Loss-
SYT16-
-
-
-
1Loss-
SYT5-
-
-
-
4Gain-
TACC2-
-
-
-
3Gain-
TACC3-
-
-
-
1Loss-
TADA2B-
-
-
-
1Loss-
TAF5-
-
-
-
1Loss-
TAPT1-
-
-
-
1Loss-
TARM1-
-
-
-
4Gain-
TAS1R1-
-
-
-
1Loss-
TBC1D10A-
-
-
-
1Loss-
TBC1D12-
-
-
-
1Loss-
TBC1D14-
-
-
-
1Loss-
TBC1D19-
-
-
-
1Loss-
TBC1D24-
-
-
-
1Loss-
TBCB-
-
-
-
3Gain-
TBL3-
-
-
-
1Loss-
TBX18p.E63K
Missense
SNP
0.451
2--
TCERG1L-
-
-
-
3Gain-
TCF23-
-
-
-
1Loss-
TCN2-
-
-
-
1Loss-
TCTN3-
-
-
-
1Loss-
TDO2-
-
-
-
1Loss-
TDRD15-
-
-
-
1Loss-
TEDC2-
-
-
-
1Loss-
TEF-
-
-
-
1Loss-
TELO2-
-
-
-
1Loss-
TENM3-
-
-
-
1Loss-
TEX101-
-
-
-
3Gain-
TEX36-
-
-
-
3Gain-
TFAP4-
-
-
-
1Loss-
TFPT-
-
-
-
4Gain-
TGFB1-
-
-
-
3Gain-
THAP3-
-
-
-
1Loss-
THAP8-
-
-
-
5Amp-
THOC5-
-
-
-
1Loss-
THOC6-
-
-
-
1Loss-
THSD1-
-
-
-
1Loss-
THUMPD2-
-
-
-
1Loss-
TIAL1-
-
-
-
3Gain-
TIGD4-
-
-
-
1Loss-
TIGD7-
-
-
-
1Loss-
TIMM50-
-
-
-
3Gain-
TIMP3-
-
-
-
1Loss-
TKTL2-
-
-
-
1Loss-
TLL1-
-
-
-
1Loss-
TLL2-
-
-
-
1Loss-
TLR2-
-
-
-
1Loss-
TLR3-
-
-
-
1Loss-
TLX1-
-
-
-
1Loss-
TM2D2p.D20H
Missense
SNP
0.461
2--
TM9SF3-
-
-
-
1Loss-
TMA16-
-
-
-
1Loss-
TMC4-
-
-
-
4Gain-
TMC6p.P639L
Missense
SNP
0.521
2--
TMEM128-
-
-
-
1Loss-
TMEM129-
-
-
-
1Loss-
TMEM131L-
-
-
-
1Loss-
TMEM144-
-
-
-
1Loss-
TMEM145-
-
-
-
3Gain-
TMEM147-
-
-
-
5Amp-
TMEM150B-
-
-
-
4Gain-
TMEM150C-
-
-
-
0Del-
TMEM154-
-
-
-
1Loss-
TMEM175-
-
-
-
1Loss-
TMEM178A-
-
-
-
1Loss-
TMEM190-
-
-
-
4Gain-
TMEM192-
-
-
-
1Loss-
TMEM204-
-
-
-
1Loss-
TMEM214-
-
-
-
1Loss-
TMEM229B-
-
-
-
1Loss-
TMEM238-
-
-
-
4Gain-
TMEM272-
-
-
-
1Loss-
TMEM30B-
-
-
-
1Loss-
TMEM55Bp.R151W
Missense
SNP
0.575
NDND-
TMEM86B-
-
-
-
4Gain-
TMEM8A-
-
-
-
1Loss-
TMEM91-
-
-
-
3Gain-
TNFRSF12A-
-
-
-
1Loss-
TNFRSF25-
-
-
-
1Loss-
TNFSF11-
-
-
-
1Loss-
TNIP2-
-
-
-
1Loss-
TNIP3-
-
-
-
1Loss-
TNKS2-
-
-
-
1Loss-
TNNI3-
-
-
-
4Gain-
TNNT1-
-
-
-
4Gain-
TNXB-
-
-
-
1Loss-
TOGARAM2-
-
-
-
1Loss-
TP53I3-
-
-
-
1Loss-
TPSAB1-
-
-
-
1Loss-
TPSB2-
-
-
-
1Loss-
TPSD1-
-
-
-
1Loss-
TPSG1-
-
-
-
1Loss-
TPT1-
-
-
-
1Loss-
TRAF7-
-
-
-
1Loss-
TRAM1L1-
-
-
-
1Loss-
TRAP1-
-
-
-
1Loss-
TRAPPC11-
-
-
-
1Loss-
TRAPPC2B-
-
-
-
3Gain-
TRIM13-
-
-
-
1Loss-
TRIM2-
-
-
-
1Loss-
TRIM28-
-
-
-
3Gain-
TRIM54-
-
-
-
1Loss-
TRIM58-
-
-
-
3Gain-
TRIM60-
-
-
-
1Loss-
TRIM61-
-
-
-
1Loss-
TRIM65p.E156K
Missense
SNP
0.495
2--
TRIM75P-
-
-
-
1Loss-
TRIM8-
-
-
-
1Loss-
TRIML1-
-
-
-
1Loss-
TRIML2-
-
-
-
1Loss-
TRMT44-
-
-
-
1Loss-
TRMT5-
-
-
-
1Loss-
TRMT61B-
-
-
-
1Loss-
TSC1-
-
-
-
3Gain-
TSC2-
-
-
-
1Loss-
TSC22D1-
-
-
-
1Loss-
TSEN34-
-
-
-
4Gain-
TSHZ3-
-
-
-
3Gain-
TSR3-
-
-
-
1Loss-
TTC27-
-
-
-
1Loss-
TTC9B-
-
-
-
3Gain-
TTF1-
-
-
-
3Gain-
TTYH1-
-
-
-
4Gain-
TUBGCP2-
-
-
-
3Gain-
TWNK-
-
-
-
1Loss-
TYROBP-
-
-
-
5Amp-
U2AF1L4-
-
-
-
5Amp-
U2AF2-
-
-
-
4Gain-
UBA2-
-
-
-
3Gain-
UBALD1-
-
-
-
1Loss-
UBE2I-
-
-
-
1Loss-
UBE2M-
-
-
-
3Gain-
UBE2S-
-
-
-
4Gain-
UBN1-
-
-
-
1Loss-
UBTD1-
-
-
-
1Loss-
UBXN2A-
-
-
-
1Loss-
UCK1-
-
-
-
3Gain-
UCN-
-
-
-
1Loss-
UFSP2-
-
-
-
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4-
-
-
-
1Loss-
UGT8-
-
-
-
1Loss-
UNKL-
-
-
-
1Loss-
UPK1A-
-
-
-
5Amp-
UQCR10-
-
-
-
1Loss-
UQCRFS1-
-
-
-
3Gain-
URI1-
-
-
-
3Gain-
UROS-
-
-
-
3Gain-
USF2-
-
-
-
5Amp-
USP17L13-
-
-
-
1Loss-
USP29-
-
-
-
3Gain-
USP53-
-
-
-
1Loss-
UTF1-
-
-
-
3Gain-
UTP14C-
-
-
-
1Loss-
UTYp.G1060E
Missense
SNP
1.000
NDND-
UVSSA-
-
-
-
1Loss-
VASN-
-
-
-
1Loss-
VAV2-
-
-
-
3Gain-
VAX1-
-
-
-
3Gain-
VEGFC-
-
-
-
1Loss-
VENTX-
-
-
-
3Gain-
VILLp.E732Q
Missense
SNP
0.507
2--
VIT-
-
-
-
1Loss-
VN1R1-
-
-
-
3Gain-
VN1R2-
-
-
-
3Gain-
VN1R4-
-
-
-
3Gain-
VPS36-
-
-
-
1Loss-
VSIG10L-
-
-
-
3Gain-
VSTM1-
-
-
-
4Gain-
VSTM2B-
-
-
-
3Gain-
VTI1B-
-
-
-
1Loss-
VWA8-
-
-
-
1Loss-
WAPL-
-
-
-
1Loss-
WBP1L-
-
-
-
1Loss-
WDCP-
-
-
-
1Loss-
WDFY1-
-
-
-
1Loss-
WDFY2-
-
-
-
1Loss-
WDR1-
-
-
-
1Loss-
WDR11-
-
-
-
3Gain-
WDR17-
-
-
-
1Loss-
WDR24-
-
-
-
1Loss-
WDR36p.L738F
Missense
SNP
0.458
2--
WDR37-
-
-
-
1Loss-
WDR43-
-
-
-
1Loss-
WDR5-
-
-
-
3Gain-
WDR62-
-
-
-
5Amp-
WDR87-
-
-
-
4Gain-
WDR89-
-
-
-
1Loss-
WDR90-
-
-
-
1Loss-
WFIKKN1-
-
-
-
1Loss-
WFS1-
-
-
-
1Loss-
WNT8B-
-
-
-
1Loss-
WTIP-
-
-
-
3Gain-
WWC2-
-
-
-
1Loss-
XBP1-
-
-
-
1Loss-
XDH-
-
-
-
1Loss-
XRCC1-
-
-
-
3Gain-
YIF1B-
-
-
-
4Gain-
YIPF4-
-
-
-
1Loss-
YPEL5-
-
-
-
1Loss-
YWHAH-
-
-
-
1Loss-
Z82190.2-
-
-
-
1Loss-
ZBTB26-
-
-
-
0Del-
ZBTB32-
-
-
-
5Amp-
ZBTB45-
-
-
-
3Gain-
ZBTB48-
-
-
-
1Loss-
ZBTB49-
-
-
-
1Loss-
ZBTB6-
-
-
-
0Del-
ZC3H13-
-
-
-
1Loss-
ZC3H7B-
-
-
-
1Loss-
ZCCHC4-
-
-
-
1Loss-
ZDHHC16-
-
-
-
1Loss-
ZDHHC18-
-
-
-
1Loss-
ZFP14-
-
-
-
3Gain-
ZFP28-
-
-
-
3Gain-
ZFP30-
-
-
-
3Gain-
ZFP36-
-
-
-
3Gain-
ZFP42-
-
-
-
1Loss-
ZFP82-
-
-
-
3Gain-
ZFYVE26-
-
-
-
1Loss-
ZFYVE27-
-
-
-
1Loss-
ZFYVE28-
-
-
-
1Loss-
ZG16B-
-
-
-
1Loss-
ZIK1-
-
-
-
3Gain-
ZIM2-
-
-
-
3Gain-
ZIM3-
-
-
-
3Gain-
ZMAT5-
-
-
-
1Loss-
ZNF112-
-
-
-
3Gain-
ZNF124-
-
-
-
3Gain-
ZNF132-
-
-
-
3Gain-
ZNF134-
-
-
-
3Gain-
ZNF135-
-
-
-
3Gain-
ZNF141-
-
-
-
1Loss-
ZNF146-
-
-
-
3Gain-
ZNF154-
-
-
-
3Gain-
ZNF155-
-
-
-
3Gain-
ZNF160-
-
-
-
3Gain-
ZNF17-
-
-
-
3Gain-
ZNF174-
-
-
-
1Loss-
ZNF175-
-
-
-
3Gain-
ZNF180-
-
-
-
3Gain-
ZNF181-
-
-
-
3Gain-
ZNF200-
-
-
-
1Loss-
ZNF205-
-
-
-
1Loss-
ZNF211-
-
-
-
3Gain-
ZNF213-
-
-
-
1Loss-
ZNF221-
-
-
-
3Gain-
ZNF222-
-
-
-
3Gain-
ZNF223-
-
-
-
3Gain-
ZNF224-
-
-
-
3Gain-
ZNF225-
-
-
-
3Gain-
ZNF226-
-
-
-
3Gain-
ZNF227-
-
-
-
3Gain-
ZNF229-
-
-
-
3Gain-
ZNF230-
-
-
-
3Gain-
ZNF233-
-
-
-
3Gain-
ZNF234-
-
-
-
3Gain-
ZNF235-
-
-
-
3Gain-
ZNF254-
-
-
-
5Amp-
ZNF256-
-
-
-
3Gain-
ZNF260-
-
-
-
3Gain-
ZNF263-
-
-
-
1Loss-
ZNF264-
-
-
-
3Gain-
ZNF274-
-
-
-
3Gain-
ZNF28-
-
-
-
3Gain-
ZNF283-
-
-
-
3Gain-
ZNF284-
-
-
-
3Gain-
ZNF285-
-
-
-
3Gain-
ZNF30-
-
-
-
3Gain-
ZNF302-
-
-
-
3Gain-
ZNF304-
-
-
-
3Gain-
ZNF320-
-
-
-
3Gain-
ZNF324-
-
-
-
3Gain-
ZNF324B-
-
-
-
3Gain-
ZNF329-
-
-
-
3Gain-
ZNF331-
-
-
-
3Gain-
ZNF345-
-
-
-
3Gain-
ZNF347-
-
-
-
3Gain-
ZNF350-
-
-
-
3Gain-
ZNF382-
-
-
-
3Gain-
ZNF383-
-
-
-
3Gain-
ZNF404-
-
-
-
3Gain-
ZNF415-
-
-
-
3Gain-
ZNF416-
-
-
-
3Gain-
ZNF417-
-
-
-
3Gain-
ZNF418-
-
-
-
3Gain-
ZNF419-
-
-
-
3Gain-
ZNF420-
-
-
-
3Gain-
ZNF428-
-
-
-
3Gain-
ZNF432-
-
-
-
3Gain-
ZNF444-
-
-
-
4Gain-
ZNF446-
-
-
-
3Gain-
ZNF45-
-
-
-
3Gain-
ZNF460-
-
-
-
3Gain-
ZNF461-
-
-
-
3Gain-
ZNF468-
-
-
-
3Gain-
ZNF470-
-
-
-
3Gain-
ZNF471-
-
-
-
3Gain-
ZNF480-
-
-
-
3Gain-
ZNF496-
-
-
-
3Gain-
ZNF497-
-
-
-
3Gain-
ZNF500-
-
-
-
1Loss-
ZNF507-
-
-
-
3Gain-
ZNF511-
-
-
-
3Gain-
ZNF511-PRAP1-
-
-
-
3Gain-
ZNF512-
-
-
-
1Loss-
ZNF513-
-
-
-
1Loss-
ZNF518A-
-
-
-
1Loss-
ZNF518B-
-
-
-
1Loss-
ZNF524-
-
-
-
4Gain-
ZNF525-
-
-
-
3Gain-
ZNF526-
-
-
-
3Gain-
ZNF527-
-
-
-
3Gain-
ZNF528-
-
-
-
3Gain-
ZNF529-
-
-
-
3Gain-
ZNF530-
-
-
-
3Gain-
ZNF534-
-
-
-
3Gain-
ZNF536-
-
-
-
3Gain-
ZNF540-
-
-
-
3Gain-
ZNF543-
-
-
-
3Gain-
ZNF544-
-
-
-
3Gain-
ZNF546-
-
-
-
3Gain-
ZNF547-
-
-
-
3Gain-
ZNF548-
-
-
-
3Gain-
ZNF549-
-
-
-
3Gain-
ZNF550-
-
-
-
3Gain-
ZNF551-
-
-
-
3Gain-
ZNF552-
-
-
-
3Gain-
ZNF565-
-
-
-
3Gain-
ZNF566-
-
-
-
3Gain-
ZNF567-
-
-
-
3Gain-
ZNF568-
-
-
-
3Gain-
ZNF569-
-
-
-
3Gain-
ZNF570-
-
-
-
3Gain-
ZNF571-
-
-
-
3Gain-
ZNF573-
-
-
-
4Gain-
ZNF574-
-
-
-
3Gain-
ZNF575-
-
-
-
3Gain-
ZNF576-
-
-
-
3Gain-
ZNF577-
-
-
-
3Gain-
ZNF578-
-
-
-
3Gain-
ZNF579-
-
-
-
4Gain-
ZNF580-
-
-
-
4Gain-
ZNF581-
-
-
-
4Gain-
ZNF582-
-
-
-
3Gain-
ZNF583-
-
-
-
3Gain-
ZNF584-
-
-
-
3Gain-
ZNF585A-
-
-
-
3Gain-
ZNF585B-
-
-
-
3Gain-
ZNF586-
-
-
-
3Gain-
ZNF587-
-
-
-
3Gain-
ZNF587B-
-
-
-
3Gain-
ZNF595-
-
-
-
1Loss-
ZNF597-
-
-
-
1Loss-
ZNF598-
-
-
-
1Loss-
ZNF599-
-
-
-
3Gain-
ZNF600-
-
-
-
3Gain-
ZNF606-
-
-
-
3Gain-
ZNF607-
-
-
-
4Gain-
ZNF610-
-
-
-
3Gain-
ZNF611-
-
-
-
3Gain-
ZNF613-
-
-
-
3Gain-
ZNF614-
-
-
-
3Gain-
ZNF615-
-
-
-
3Gain-
ZNF616-
-
-
-
3Gain-
ZNF628-
-
-
-
4Gain-
ZNF649-
-
-
-
3Gain-
ZNF665-
-
-
-
3Gain-
ZNF667-
-
-
-
3Gain-
ZNF669-
-
-
-
3Gain-
ZNF670-
-
-
-
3Gain-
ZNF670-ZNF695-
-
-
-
3Gain-
ZNF671-
-
-
-
3Gain-
ZNF675-
-
-
-
5Amp-
ZNF677-
-
-
-
3Gain-
ZNF681-
-
-
-
5Amp-
ZNF695-
-
-
-
3Gain-
ZNF701-
-
-
-
3Gain-
ZNF71-
-
-
-
3Gain-
ZNF718-
-
-
-
1Loss-
ZNF721-
-
-
-
1Loss-
ZNF723-
-
-
-
5Amp-
ZNF724-
-
-
-
5Amp-
ZNF726-
-
-
-
5Amp-
ZNF728-
-
-
-
5Amp-
ZNF730-
-
-
-
5Amp-
ZNF732-
-
-
-
1Loss-
ZNF749-
-
-
-
3Gain-
ZNF75A-
-
-
-
1Loss-
ZNF761-
-
-
-
3Gain-
ZNF765-
-
-
-
3Gain-
ZNF766-
-
-
-
3Gain-
ZNF772-
-
-
-
3Gain-
ZNF773-
-
-
-
3Gain-
ZNF776-
-
-
-
3Gain-
ZNF780A-
-
-
-
3Gain-
ZNF780B-
-
-
-
3Gain-
ZNF781-
-
-
-
3Gain-
ZNF784-
-
-
-
4Gain-
ZNF787-
-
-
-
4Gain-
ZNF790-
-
-
-
3Gain-
ZNF792-
-
-
-
3Gain-
ZNF793-
-
-
-
3Gain-
ZNF8-
-
-
-
3Gain-
ZNF805-
-
-
-
3Gain-
ZNF808-
-
-
-
3Gain-
ZNF813-
-
-
-
3Gain-
ZNF814-
-
-
-
3Gain-
ZNF816-
-
-
-
3Gain-
ZNF816-ZNF321P-
-
-
-
3Gain-
ZNF829-
-
-
-
3Gain-
ZNF83-
-
-
-
3Gain-
ZNF835-
-
-
-
3Gain-
ZNF836-
-
-
-
3Gain-
ZNF837-
-
-
-
3Gain-
ZNF841-
-
-
-
3Gain-
ZNF845-
-
-
-
3Gain-
ZNF850-
-
-
-
3Gain-
ZNF865-
-
-
-
4Gain-
ZNF880-
-
-
-
3Gain-
ZNF888-
-
-
-
3Gain-
ZNF91-
-
-
-
5Amp-
ZNRF3-
-
-
-
1Loss-
ZRANB1-
-
-
-
3Gain-
ZSCAN1-
-
-
-
3Gain-
ZSCAN10-
-
-
-
1Loss-
ZSCAN18-
-
-
-
3Gain-
ZSCAN22-
-
-
-
3Gain-
ZSCAN32-
-
-
-
1Loss-
ZSCAN4-
-
-
-
3Gain-
ZSCAN5A-
-
-
-
4Gain-
ZSCAN5B-
-
-
-
4Gain-
ZSCAN5C-
-
-
-
4Gain-