PDMR-695221~133-T~VV9M19-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AAGAB-
-
-
-
3Gain-
AANAT-
-
-
-
4Gain-
AAR2-
-
-
-
3Gain-
AARD-
-
-
-
3Gain-
AARSD1-
-
-
-
3Gain-
AATK-
-
-
-
4Gain-
ABCA10-
-
-
-
4Gain-
ABCA5-
-
-
-
4Gain-
ABCA6-
-
-
-
4Gain-
ABCA8-
-
-
-
4Gain-
ABCA9-
-
-
-
4Gain-
ABCB10-
-
-
-
3Gain-
ABCC3-
-
-
-
4Gain-
ABCD4p.E368K
Missense
SNP
0.065
3Gain-
ABHD12B-
-
-
-
3Gain-
ABHD16B-
-
-
-
3Gain-
ABHD17C-
-
-
-
3Gain-
ABHD2-
-
-
-
3Gain-
ABHD4-
-
-
-
3Gain-
ABL2-
-
-
-
3Gain-
ABLIM2-
-
-
-
1Loss-
ABRA-
-
-
-
3Gain-
AC004687.2-
-
-
-
4Gain-
AC004805.1-
-
-
-
4Gain-
AC005520.1-
-
-
-
3Gain-
AC005702.1-
-
-
-
4Gain-
AC005837.2-
-
-
-
4Gain-
AC007375.1-
-
-
-
3Gain-
AC009690.1-
-
-
-
3Gain-
AC009690.3-
-
-
-
3Gain-
AC009879.2-
-
-
-
1Loss-
AC009879.3-
-
-
-
1Loss-
AC011195.2-
-
-
-
4Gain-
AC011330.3-
-
-
-
3Gain-
AC012213.5-
-
-
-
3Gain-
AC012476.1-
-
-
-
3Gain-
AC012651.1-
-
-
-
3Gain-
AC013394.1-
-
-
-
3Gain-
AC013461.1p.S531L
Missense
SNP
0.060
NDND-
AC013489.1-
-
-
-
3Gain-
AC015813.2-
-
-
-
4Gain-
AC018362.3-
-
-
-
3Gain-
AC018512.1-
-
-
-
3Gain-
AC022826.2-
-
-
-
3Gain-
AC036214.3-
-
-
-
3Gain-
AC037459.1-
-
-
-
1Loss-
AC046185.1-
-
-
-
8Amp-
AC068831.7-
-
-
-
3Gain-
AC069368.1-
-
-
-
3Gain-
AC073508.2-
-
-
-
6Amp-
AC087289.3-
-
-
-
4Gain-
AC087632.1-
-
-
-
3Gain-
AC087721.2-
-
-
-
3Gain-
AC090517.4-
-
-
-
1Loss-
AC090527.2-
-
-
-
3Gain-
AC091057.6-
-
-
-
3Gain-
AC091167.2-
-
-
-
3Gain-
AC091167.6-
-
-
-
3Gain-
AC091167.7-
-
-
-
3Gain-
AC092017.3-
-
-
-
3Gain-
AC092442.1-
-
-
-
1Loss-
AC099811.2-
-
-
-
3Gain-
AC099850.2-
-
-
-
4Gain-
AC100868.1-
-
-
-
3Gain-
AC104662.2-
-
-
-
1Loss-
AC107871.1-
-
-
-
3Gain-
AC107959.5-
-
-
-
1Loss-
AC110275.1-
-
-
-
1Loss-
AC113554.1-
-
-
-
8Amp-
AC118470.1-
-
-
-
3Gain-
AC124312.1-
-
-
-
3Gain-
AC127029.3-
-
-
-
8Amp-
AC134980.3-
-
-
-
3Gain-
AC135068.1-
-
-
-
3Gain-
AC135068.3-
-
-
-
3Gain-
AC138647.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
3Gain-
AC139530.2-
-
-
-
4Gain-
AC144573.1-
-
-
-
1Loss-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
AC243756.1-
-
-
-
3Gain-
AC245033.1-
-
-
-
3GainRPS17P14--AC245033.1
ACAN-
-
-
-
3Gain-
ACBD3-
-
-
-
3Gain-
ACBD6-
-
-
-
3Gain-
ACE-
-
-
-
8Amp-
ACER2-
-
-
-
1Loss-
ACIN1-
-
-
-
3Gain-
ACKR1-
-
-
-
3Gain-
ACLY-
-
-
-
3Gain-
ACO1-
-
-
-
1Loss-
ACOT1-
-
-
-
3Gain-
ACOT2-
-
-
-
3Gain-
ACOT4-
-
-
-
3Gain-
ACOT6-
-
-
-
3Gain-
ACOT8-
-
-
-
3Gain-
ACOX1-
-
-
-
4Gain-
ACOX3-
-
-
-
1Loss-
ACP6-
-
-
-
3Gain-
ACSBG1-
-
-
-
3Gain-
ACSF2-
-
-
-
4Gain-
ACSS2-
-
-
-
3Gain-
ACTA1-
-
-
-
3Gain-
ACTC1-
-
-
-
3Gain-
ACTG1-
-
-
-
4Gain-
ACTL10-
-
-
-
3Gain-
ACTN1-
-
-
-
3Gain-
ACTN2-
-
-
-
3Gain-
ACTR10-
-
-
-
3Gain-
ACTR5-
-
-
-
3Gain-
ACYP1-
-
-
-
3Gain-
ADA-
-
-
-
3Gain-
ADAL-
-
-
-
3Gain-
ADAM10-
-
-
-
1Loss-
ADAM11-
-
-
-
3Gain-
ADAM15-
-
-
-
3Gain-
ADAM18-
-
-
-
1Loss-
ADAM2-
-
-
-
1Loss-
ADAM20-
-
-
-
3Gain-
ADAM21-
-
-
-
3Gain-
ADAM28-
-
-
-
1Loss-
ADAM32-
-
-
-
1Loss-
ADAM7-
-
-
-
1Loss-
ADAM9-
-
-
-
1Loss-
ADAMDEC1-
-
-
-
1Loss-
ADAMTS17-
-
-
-
3Gain-
ADAMTS4-
-
-
-
3Gain-
ADAMTS7-
-
-
-
3Gain-
ADAMTSL1-
-
-
-
1Loss-
ADAMTSL3-
-
-
-
3Gain-
ADAMTSL4-
-
-
-
3Gain-
ADAR-
-
-
-
3Gain-
ADCK1-
-
-
-
3Gain-
ADCK5-
-
-
-
3Gain-
ADCY10-
-
-
-
3Gain-
ADCY4-
-
-
-
3Gain-
ADCY8-
-
-
-
3Gain-
ADD1-
-
-
-
1Loss-
ADGRA2-
-
-
-
1Loss-
ADGRA3-
-
-
-
1Loss-
ADGRB1-
-
-
-
3Gain-
ADGRF2p.Y6C
Missense
SNP
0.062
2--
ADGRF4p.K541N
Missense
SNP
0.065
2--
ADHFE1p.C449R
Missense
SNP
0.226
1Loss-
ADIG-
-
-
-
3Gain-
ADIPOR1-
-
-
-
3Gain-
ADNP-
-
-
-
3Gain-
ADORA1-
-
-
-
3Gain-
ADPGK-
-
-
-
3Gain-
ADRA1Ap.C347R
Missense
SNP
0.090
1Loss-
ADRA2C-
-
-
-
1Loss-
ADRB3-
-
-
-
1Loss-
ADRM1-
-
-
-
3Gain-
ADSS-
-
-
-
3Gain-
ADSSL1-
-
-
-
3Gain-
AEN-
-
-
-
3Gain-
AFAP1-
-
-
-
1Loss-
AFMID-
-
-
-
4Gain-
AGBL1-
-
-
-
3Gain-
AGO2-
-
-
-
3Gain-
AGPAT5-
-
-
-
1Loss-
AGT-
-
-
-
3Gain-
AHCTF1-
-
-
-
3Gain-
AHCY-
-
-
-
3Gain-
AHNAK2-
-
-
-
3Gain-
AHSA1-
-
-
-
3Gain-
AIDA-
-
-
-
3Gain-
AIM2-
-
-
-
3Gain-
AJUBA-
-
-
-
3Gain-
AK3-
-
-
-
1Loss-
AK7-
-
-
-
3Gain-
AKAP1-
-
-
-
4Gain-
AKAP13-
-
-
-
3Gain-
AKAP5-
-
-
-
3Gain-
AKAP6-
-
-
-
3Gain-
AKNAD1p.L352V
Missense
SNP
0.101
2--
AKT1-
-
-
-
3Gain-
AKT3-
-
-
-
3Gain-
AL049779.1-
-
-
-
3Gain-
AL049839.2-
-
-
-
3Gain-
AL096870.1-
-
-
-
3Gain-
AL109827.1-
-
-
-
3Gain-
AL110118.2-
-
-
-
3Gain-
AL117348.2-
-
-
-
3Gain-
AL121594.1-
-
-
-
3Gain-
AL121753.1-
-
-
-
3Gain-
AL121845.2-
-
-
-
3Gain-
AL121845.3-
-
-
-
3Gain-
AL132780.3-
-
-
-
3Gain-
AL133410.3-
-
-
-
1Loss-
AL136295.1-
-
-
-
3Gain-
AL136295.3-
-
-
-
3Gain-
AL136295.4-
-
-
-
3Gain-
AL136295.5-
-
-
-
3Gain-
AL138752.2-
-
-
-
1Loss-
AL139011.2-
-
-
-
3Gain-
AL139142.2-
-
-
-
3Gain-
AL139300.1-
-
-
-
3Gain-
AL139353.1-
-
-
-
3Gain-
AL162231.1-
-
-
-
1Loss-
AL162231.3-
-
-
-
1Loss-
AL163195.3-
-
-
-
3Gain-
AL163636.2-
-
-
-
3Gain-
AL355102.2-
-
-
-
3Gain-
AL355916.2-
-
-
-
3Gain-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL359922.1-
-
-
-
1Loss-
AL512785.2-
-
-
-
3Gain-
AL513165.2-
-
-
-
1Loss-
AL590132.1-
-
-
-
3Gain-
AL591806.3-
-
-
-
3Gain-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
AL928654.3-
-
-
-
3Gain-
ALDH1A2-
-
-
-
1Loss-
ALDH1A3-
-
-
-
3Gain-
ALDH1B1-
-
-
-
1Loss-
ALDH6A1-
-
-
-
3Gain-
ALDH9A1-
-
-
-
3Gain-
ALKp.D1529E
Missense
SNP
0.070
2--
ALKAL1-
-
-
-
1Loss-
ALKBH1-
-
-
-
3Gain-
ALKBH4p.A247V
Missense
SNP
0.051
2--
ALPK3-
-
-
-
3Gain-
ALYREF-
-
-
-
4Gain-
AMN-
-
-
-
3Gain-
AMZ2-
-
-
-
4Gain-
ANAPC11-
-
-
-
4Gain-
ANAPC4-
-
-
-
1Loss-
ANG-
-
-
-
3Gain-
ANGEL1-
-
-
-
3Gain-
ANGEL2-
-
-
-
3Gain-
ANGPT1-
-
-
-
3Gain-
ANGPT2-
-
-
-
1Loss-
ANGPTL1-
-
-
-
3Gain-
ANK1-
-
-
-
1Loss-
ANKDD1A-
-
-
-
3Gain-
ANKFN1-
-
-
-
4Gain-
ANKRD18A-
-
-
-
1Loss-
ANKRD18B-
-
-
-
1Loss-
ANKRD34A-
-
-
-
3Gain-
ANKRD34C-
-
-
-
3Gain-
ANKRD35-
-
-
-
3Gain-
ANKRD40-
-
-
-
4Gain-
ANKRD45-
-
-
-
3Gain-
ANKRD46-
-
-
-
3Gain-
ANKRD60-
-
-
-
3Gain-
ANKRD63-
-
-
-
3Gain-
ANKRD9-
-
-
-
3Gain-
ANP32A-
-
-
-
3Gain-
ANP32E-
-
-
-
3Gain-
ANPEP-
-
-
-
3Gain-
ANTXRL-
-
-
-
3Gain-
ANXA13-
-
-
-
3Gain-
ANXA2-
-
-
-
1Loss-
ANXA8L1-
-
-
-
3Gain-
ANXA9-
-
-
-
3Gain-
AOC2-
-
-
-
3Gain-
AOC3-
-
-
-
3Gain-
AP1G2-
-
-
-
3Gain-
AP2B1-
-
-
-
6Amp-
AP3B2-
-
-
-
3Gain-
AP3M2-
-
-
-
1Loss-
AP3S2-
-
-
-
3Gain-
AP4E1-
-
-
-
3Gain-
AP4S1-
-
-
-
3Gain-
AP5M1-
-
-
-
3Gain-
APBA2-
-
-
-
3Gain-
APCDD1L-
-
-
-
3Gain-
APCS-
-
-
-
3Gain-
APEX1-
-
-
-
3Gain-
APH1A-
-
-
-
3Gain-
APH1B-
-
-
-
3Gain-
APOA2-
-
-
-
3Gain-
APOBEC4-
-
-
-
3Gain-
APOH-
-
-
-
4Gain-
APOPT1-
-
-
-
3Gain-
APPBP2-
-
-
-
4Gain-
APTX-
-
-
-
1Loss-
AQP10-
-
-
-
3Gain-
AQP3-
-
-
-
1Loss-
AQP7-
-
-
-
1Loss-
AQP9-
-
-
-
1Loss-
AQR-
-
-
-
3Gain-
ARAP2-
-
-
-
1Loss-
ARC-
-
-
-
3Gain-
AREL1-
-
-
-
3Gain-
ARF1-
-
-
-
3Gain-
ARF6-
-
-
-
3Gain-
ARFGAP1-
-
-
-
3Gain-
ARFGEF1-
-
-
-
1Loss-
ARFGEF2-
-
-
-
3Gain-
ARFRP1-
-
-
-
3Gain-
ARG2-
-
-
-
3Gain-
ARHGAP11A-
-
-
-
3Gain-
ARHGAP11B-
-
-
-
3Gain-
ARHGAP23-
-
-
-
6Amp-
ARHGAP30-
-
-
-
3Gain-
ARHGAP39-
-
-
-
3Gain-
ARHGAP40-
-
-
-
3Gain-
ARHGAP5-
-
-
-
3Gain-
ARHGAP9p.S370A
Missense
SNP
0.059
2--
ARHGDIA-
-
-
-
4Gain-
ARHGEF10-
-
-
-
1Loss-
ARHGEF11-
-
-
-
3Gain-
ARHGEF2-
-
-
-
3Gain-
ARHGEF39-
-
-
-
1Loss-
ARHGEF40-
-
-
-
3Gain-
ARID3B-
-
-
-
3Gain-
ARID3C-
-
-
-
1Loss-
ARID4A-
-
-
-
3Gain-
ARID4B-
-
-
-
3Gain-
ARIH1-
-
-
-
3Gain-
ARL16-
-
-
-
4Gain-
ARL5C-
-
-
-
6Amp-
ARL8A-
-
-
-
3Gain-
ARMC1-
-
-
-
1Loss-
ARMC7-
-
-
-
4Gain-
ARMH4-
-
-
-
3Gain-
ARNT-
-
-
-
3Gain-
ARNT2-
-
-
-
3Gain-
ARPC5-
-
-
-
3Gain-
ARPIN-
-
-
-
3Gain-
ARPP19-
-
-
-
3Gain-
ARRDC4-
-
-
-
3Gain-
ARSG-
-
-
-
4Gain-
ARV1-
-
-
-
3Gain-
ARVCFp.A549V
Missense
SNP
0.282
2--
ASAH1-
-
-
-
1Loss-
ASAP1-
-
-
-
3Gain-
ASB2-
-
-
-
3Gain-
ASB7-
-
-
-
3Gain-
ASH1L-
-
-
-
3Gain-
ASH2L-
-
-
-
1Loss-
ASIP-
-
-
-
3Gain-
ASPG-
-
-
-
3Gain-
ASPH-
-
-
-
1Loss-
ASPM-
-
-
-
3Gain-
ASPSCR1-
-
-
-
4Gain-
ASTN1-
-
-
-
3Gain-
ASXL1-
-
-
-
3Gain-
ATAD2-
-
-
-
3Gain-
ATF3-
-
-
-
3Gain-
ATF6-
-
-
-
3Gain-
ATG14-
-
-
-
3Gain-
ATG2B-
-
-
-
3Gain-
ATL1-
-
-
-
3Gain-
ATP10A-
-
-
-
3Gain-
ATP1A2-
-
-
-
3Gain-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP2B4-
-
-
-
3Gain-
ATP5F1E-
-
-
-
3Gain-
ATP5ME-
-
-
-
1Loss-
ATP5MPL-
-
-
-
3Gain-
ATP5PD-
-
-
-
4Gain-
ATP5S-
-
-
-
3Gain-
ATP6V0A1-
-
-
-
3Gain-
ATP6V0D2-
-
-
-
3Gain-
ATP6V1B2-
-
-
-
1Loss-
ATP6V1C1-
-
-
-
3Gain-
ATP6V1D-
-
-
-
3Gain-
ATP6V1G3-
-
-
-
3Gain-
ATP6V1H-
-
-
-
1Loss-
ATP8B2-
-
-
-
3Gain-
ATP8B4-
-
-
-
3Gain-
ATP9A-
-
-
-
3Gain-
ATXN3-
-
-
-
3Gain-
AURKA-
-
-
-
3Gain-
AVEN-
-
-
-
3Gain-
AVPR1B-
-
-
-
3Gain-
AXDND1-
-
-
-
3Gain-
AXIN2-
-
-
-
4Gain-
AZIN1-
-
-
-
3Gain-
B2M-
-
-
-
3Gain-
B3GALNT2-
-
-
-
3Gain-
B3GALT2-
-
-
-
3Gain-
B3GNTL1-
-
-
-
4Gain-
B4GALT1-
-
-
-
1Loss-
B4GALT3-
-
-
-
3Gain-
B4GALT5-
-
-
-
3Gain-
BAALC-
-
-
-
3Gain-
BAG1-
-
-
-
1Loss-
BAG4-
-
-
-
1Loss-
BAG5-
-
-
-
3Gain-
BAHCC1-
-
-
-
4Gain-
BAHD1-
-
-
-
3Gain-
BAIAP2-
-
-
-
4Gain-
BATF-
-
-
-
3Gain-
BATF3-
-
-
-
3Gain-
BAZ1A-
-
-
-
3Gain-
BBOF1-
-
-
-
3Gain-
BBS4-
-
-
-
3Gain-
BCAN-
-
-
-
3Gain-
BCAS1-
-
-
-
3Gain-
BCAS3-
-
-
-
8Amp-
BCAS4-
-
-
-
3Gain-
BCL11B-
-
-
-
3Gain-
BCL2A1-
-
-
-
3Gain-
BCL2L1-
-
-
-
3Gain-
BCL2L10-
-
-
-
3Gain-
BCL2L2-
-
-
-
3Gain-
BCL2L2-PABPN1-
-
-
-
3Gain-
BCL9-
-
-
-
3Gain-
BDKRB1-
-
-
-
3Gain-
BDKRB2-
-
-
-
3Gain-
BECN1-
-
-
-
3Gain-
BEGAIN-
-
-
-
3Gain-
BEND4-
-
-
-
3Gain-
BFARp.M140R
Missense
SNP
0.065
2--
BGLAP-
-
-
-
3Gain-
BHLHE22-
-
-
-
1Loss-
BHLHE23-
-
-
-
3Gain-
BIN3-
-
-
-
1Loss-
BIRC5-
-
-
-
4Gain-
BIRC7-
-
-
-
3Gain-
BLCAP-
-
-
-
3Gain-
BLK-
-
-
-
1Loss-
BLM-
-
-
-
3Gain-
BLOC1S4-
-
-
-
1Loss-
BLOC1S6-
-
-
-
3Gain-
BLZF1-
-
-
-
3Gain-
BMF-
-
-
-
3Gain-
BMP1-
-
-
-
1Loss-
BMP4-
-
-
-
3Gain-
BMP7-
-
-
-
3Gain-
BNC1-
-
-
-
3Gain-
BNC2-
-
-
-
1Loss-
BNIP2-
-
-
-
1Loss-
BNIP3L-
-
-
-
1Loss-
BNIPL-
-
-
-
3Gain-
BOD1L1-
-
-
-
1Loss-
BOLA1-
-
-
-
3Gain-
BPI-
-
-
-
3Gain-
BPIFA1-
-
-
-
3Gain-
BPIFA2-
-
-
-
3Gain-
BPIFA3-
-
-
-
3Gain-
BPIFB1-
-
-
-
3Gain-
BPIFB2-
-
-
-
3Gain-
BPIFB3-
-
-
-
3Gain-
BPIFB4-
-
-
-
3Gain-
BPIFB6-
-
-
-
3Gain-
BPNT1-
-
-
-
3Gain-
BPTF-
-
-
-
4Gain-
BRF1-
-
-
-
3Gain-
BRF2-
-
-
-
1Loss-
BRINP2-
-
-
-
3Gain-
BRINP3-
-
-
-
3Gain-
BRIP1-
-
-
-
8Amp-
BRMS1L-
-
-
-
3Gain-
BROX-
-
-
-
3Gain-
BST1-
-
-
-
1Loss-
BTBD1-
-
-
-
3Gain-
BTBD17-
-
-
-
4Gain-
BTBD6-
-
-
-
3Gain-
BTBD7-
-
-
-
3Gain-
BTG2-
-
-
-
3Gain-
BUB1B-
-
-
-
3Gain-
BUB1B-PAK6-
-
-
-
3Gain-
C14orf119-
-
-
-
3Gain-
C14orf132-
-
-
-
3Gain-
C14orf177-
-
-
-
3Gain-
C14orf178-
-
-
-
3Gain-
C14orf180-
-
-
-
3Gain-
C14orf28-
-
-
-
3Gain-
C14orf39-
-
-
-
3Gain-
C14orf93-
-
-
-
3Gain-
C15orf38-AP3S2-
-
-
-
3Gain-
C15orf39-
-
-
-
3Gain-
C15orf40-
-
-
-
3Gain-
C15orf41-
-
-
-
3Gain-
C15orf48-
-
-
-
3Gain-
C15orf53-
-
-
-
3Gain-
C15orf61-
-
-
-
3Gain-
C15orf62-
-
-
-
3Gain-
C15orf65-
-
-
-
3Gain-
C17orf47-
-
-
-
4Gain-
C17orf50-
-
-
-
6Amp-
C17orf58-
-
-
-
4Gain-
C17orf64-
-
-
-
4Gain-
C17orf67-
-
-
-
4Gain-
C17orf80-
-
-
-
4Gain-
C17orf98-
-
-
-
6Amp-
C17orf99-
-
-
-
4Gain-
C1orf100-
-
-
-
3Gain-
C1orf105-
-
-
-
3Gain-
C1orf112-
-
-
-
3Gain-
C1orf115-
-
-
-
3Gain-
C1orf116-
-
-
-
3Gain-
C1orf131-
-
-
-
3Gain-
C1orf167p.P678H
p.R946Q
Missense
Missense
SNP
SNP
0.089
0.066
2--
C1orf189-
-
-
-
3Gain-
C1orf198-
-
-
-
3Gain-
C1orf21-
-
-
-
3Gain-
C1orf226-
-
-
-
3Gain-
C1orf35-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf53-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1orf74-
-
-
-
3Gain-
C1QL1-
-
-
-
3Gain-
C1QTNF1-
-
-
-
4Gain-
C1QTNF7-
-
-
-
1Loss-
C20orf144-
-
-
-
3Gain-
C20orf173-
-
-
-
3Gain-
C20orf203-
-
-
-
3Gain-
C20orf204-
-
-
-
3Gain-
C20orf85-
-
-
-
3Gain-
C2CD4A-
-
-
-
1Loss-
C2CD4B-
-
-
-
1Loss-
C2CD4D-
-
-
-
3Gain-
C4BPA-
-
-
-
3Gain-
C4BPB-
-
-
-
3Gain-
C4orf19-
-
-
-
1Loss-
C4orf48-
-
-
-
1Loss-
C4orf50-
-
-
-
1Loss-
C5orf42p.Q1131*
Nonsense
SNP
0.921
NDND-
C8orf33-
-
-
-
3Gain-
C8orf34-
-
-
-
1Loss-
C8orf37-
-
-
-
3Gain-
C8orf44-
-
-
-
1Loss-
C8orf48-
-
-
-
1Loss-
C8orf58-
-
-
-
1Loss-
C8orf59-
-
-
-
3Gain-
C8orf74-
-
-
-
1Loss-
C8orf76-
-
-
-
3Gain-
C8orf82-
-
-
-
3Gain-
C8orf86-
-
-
-
1Loss-
C8orf88-
-
-
-
3Gain-
C8orf89-
-
-
-
3Gain-
C9orf131-
-
-
-
1Loss-
C9orf24-
-
-
-
1Loss-
C9orf66-
-
-
-
1Loss-
C9orf72-
-
-
-
1Loss-
C9orf92-
-
-
-
1Loss-
CA1-
-
-
-
3Gain-
CA10-
-
-
-
4Gain-
CA12-
-
-
-
3Gain-
CA13-
-
-
-
3Gain-
CA14-
-
-
-
3Gain-
CA2-
-
-
-
3Gain-
CA3-
-
-
-
3Gain-
CA4-
-
-
-
4Gain-
CA8-
-
-
-
1Loss-
CA9-
-
-
-
1Loss-
CAAP1-
-
-
-
1Loss-
CABLES2-
-
-
-
3Gain-
CACNA1E-
-
-
-
3Gain-
CACNA1G-
-
-
-
4Gain-
CACNA1S-
-
-
-
3Gain-
CACNB1-
-
-
-
6Amp-
CACNG1-
-
-
-
4Gain-
CACNG4-
-
-
-
4Gain-
CACNG5-
-
-
-
4Gain-
CACYBP-
-
-
-
3Gain-
CADM3-
-
-
-
3Gain-
CALB1-
-
-
-
3Gain-
CALM1-
-
-
-
3Gain-
CALML4-
-
-
-
3Gain-
CAMK1G-
-
-
-
3Gain-
CAMSAP2-
-
-
-
3Gain-
CAND2p.V77A
p.H858P
Missense
Missense
SNP
SNP
0.057
0.078
2--
CANT1-
-
-
-
4Gain-
CAPGp.V41I
Missense
SNP
0.070
2--
CAPN2-
-
-
-
3Gain-
CAPN3-
-
-
-
3Gain-
CAPN8-
-
-
-
3Gain-
CAPN9-
-
-
-
3Gain-
CARD14-
-
-
-
4Gain-
CARMIL3-
-
-
-
3Gain-
CASC3-
-
-
-
6Amp-
CASC4-
-
-
-
3Gain-
CASKIN2-
-
-
-
4Gain-
CASQ1-
-
-
-
3Gain-
CASS4-
-
-
-
3Gain-
CATSPER2-
-
-
-
3Gain-
CATSPERB-
-
-
-
3Gain-
CATSPERE-
-
-
-
3Gain-
CAVIN1-
-
-
-
3Gain-
CBFA2T2-
-
-
-
3Gain-
CBLN3-
-
-
-
3Gain-
CBLN4-
-
-
-
3Gain-
CBWD1-
-
-
-
1Loss-
CBX2-
-
-
-
4Gain-
CBX4-
-
-
-
4Gain-
CBX8-
-
-
-
4Gain-
CC2D2A-
-
-
-
1Loss-
CCAR2-
-
-
-
1Loss-
CCDC103-
-
-
-
3Gain-
CCDC107-
-
-
-
1Loss-
CCDC137-
-
-
-
4Gain-
CCDC149-
-
-
-
1Loss-
CCDC166-
-
-
-
3Gain-
CCDC171-
-
-
-
1Loss-
CCDC175-
-
-
-
3Gain-
CCDC181-
-
-
-
3Gain-
CCDC182-
-
-
-
4Gain-
CCDC185-
-
-
-
3Gain-
CCDC190-
-
-
-
3Gain-
CCDC197-
-
-
-
3Gain-
CCDC198-
-
-
-
3Gain-
CCDC25-
-
-
-
1Loss-
CCDC32-
-
-
-
3Gain-
CCDC33-
-
-
-
3Gain-
CCDC40-
-
-
-
4Gain-
CCDC43-
-
-
-
3Gain-
CCDC47-
-
-
-
8Amp-
CCDC57-
-
-
-
4Gain-
CCDC85C-
-
-
-
3Gain-
CCDC88C-
-
-
-
3Gain-
CCDC9p.L478P
Missense
SNP
0.165
2--
CCDC96-
-
-
-
1Loss-
CCDC9B-
-
-
-
3Gain-
CCIN-
-
-
-
1Loss-
CCKAR-
-
-
-
1Loss-
CCL1-
-
-
-
6Amp-
CCL11-
-
-
-
6Amp-
CCL13-
-
-
-
6Amp-
CCL14-
-
-
-
6Amp-
CCL15-
-
-
-
6Amp-
CCL15-CCL14-
-
-
-
6Amp-
CCL16-
-
-
-
6Amp-
CCL18-
-
-
-
6Amp-
CCL19-
-
-
-
1Loss-
CCL2-
-
-
-
6Amp-
CCL21-
-
-
-
1Loss-
CCL23-
-
-
-
6Amp-
CCL27-
-
-
-
1Loss-
CCL3-
-
-
-
6Amp-
CCL3L1-
-
-
-
6Amp-
CCL4-
-
-
-
6Amp-
CCL4L2-
-
-
-
6Amp-
CCL5-
-
-
-
6Amp-
CCL7-
-
-
-
6Amp-
CCL8-
-
-
-
6Amp-
CCM2L-
-
-
-
3Gain-
CCNB1IP1-
-
-
-
3Gain-
CCNB2-
-
-
-
1Loss-
CCNDBP1-
-
-
-
3Gain-
CCNE2-
-
-
-
3Gain-
CCNK-
-
-
-
3Gain-
CCPG1-
-
-
-
3Gain-
CCR10-
-
-
-
3Gain-
CCR7-
-
-
-
6Amp-
CCSAP-
-
-
-
3Gain-
CCT3-
-
-
-
3Gain-
CCT6B-
-
-
-
6Amp-
CD160-
-
-
-
3Gain-
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD244-
-
-
-
3Gain-
CD247-
-
-
-
3Gain-
CD274-
-
-
-
1Loss-
CD276-
-
-
-
3Gain-
CD300A-
-
-
-
4Gain-
CD300C-
-
-
-
4Gain-
CD300E-
-
-
-
4Gain-
CD300LB-
-
-
-
4Gain-
CD300LD-
-
-
-
4Gain-
CD300LF-
-
-
-
4Gain-
CD34-
-
-
-
3Gain-
CD38-
-
-
-
1Loss-
CD40-
-
-
-
3Gain-
CD46-
-
-
-
3Gain-
CD48-
-
-
-
3Gain-
CD55-
-
-
-
3Gain-
CD5L-
-
-
-
3Gain-
CD7-
-
-
-
4Gain-
CD72-
-
-
-
1Loss-
CD79B-
-
-
-
8Amp-
CD84-
-
-
-
3Gain-
CDAN1-
-
-
-
3Gain-
CDC37L1-
-
-
-
1Loss-
CDC42BPA-
-
-
-
3Gain-
CDC42BPB-
-
-
-
3Gain-
CDC42EP4-
-
-
-
4Gain-
CDC42SE1-
-
-
-
3Gain-
CDC6-
-
-
-
6Amp-
CDC73-
-
-
-
3Gain-
CDCA2-
-
-
-
1Loss-
CDCA4-
-
-
-
3Gain-
CDH17-
-
-
-
3Gain-
CDH22-
-
-
-
3Gain-
CDH24-
-
-
-
3Gain-
CDH26-
-
-
-
3Gain-
CDH4-
-
-
-
3Gain-
CDK12-
-
-
-
6Amp-
CDK18-
-
-
-
3Gain-
CDK3-
-
-
-
4Gain-
CDK5RAP1-
-
-
-
3Gain-
CDKL1-
-
-
-
3Gain-
CDKN2A-
-
-
-
1Loss-
CDKN2B-
-
-
-
1Loss-
CDKN3-
-
-
-
3Gain-
CDR2L-
-
-
-
4Gain-
CEBPB-
-
-
-
3Gain-
CEBPD-
-
-
-
1Loss-
CEBPE-
-
-
-
3Gain-
CELF3-
-
-
-
3Gain-
CELF6-
-
-
-
3Gain-
CEMIP-
-
-
-
3Gain-
CENPF-
-
-
-
3Gain-
CENPL-
-
-
-
3Gain-
CENPUp.I214M
Missense
SNP
0.174
2--
CENPX-
-
-
-
4Gain-
CEP112-
-
-
-
4Gain-
CEP128-
-
-
-
3Gain-
CEP131-
-
-
-
4Gain-
CEP152-
-
-
-
3Gain-
CEP170-
-
-
-
3Gain-
CEP170B-
-
-
-
3Gain-
CEP250-
-
-
-
3Gain-
CEP295NL-
-
-
-
4Gain-
CEP350p.N786I
Missense
SNP
0.122
3Gain-
CEP95-
-
-
-
4Gain-
CER1-
-
-
-
1Loss-
CERS2-
-
-
-
3Gain-
CERS3-
-
-
-
3Gain-
CFAP126-
-
-
-
3Gain-
CFAP161-
-
-
-
3Gain-
CFAP45-
-
-
-
3Gain-
CFAP46p.S2540G
Missense
SNP
0.053
2--
CFAP99-
-
-
-
1Loss-
CFH-
-
-
-
3Gain-
CFHR1-
-
-
-
3Gain-
CFHR2-
-
-
-
3Gain-
CFHR3-
-
-
-
3Gain-
CFHR4-
-
-
-
3Gain-
CFHR5-
-
-
-
3Gain-
CFL2-
-
-
-
3Gain-
CGN-
-
-
-
3Gain-
CGNL1-
-
-
-
1Loss-
CGRRF1-
-
-
-
3Gain-
CHAC1-
-
-
-
3Gain-
CHAD-
-
-
-
4Gain-
CHCHD7-
-
-
-
1Loss-
CHD1L-
-
-
-
3Gain-
CHD2-
-
-
-
3Gain-
CHD6-
-
-
-
3Gain-
CHD7-
-
-
-
1Loss-
CHD8-
-
-
-
3Gain-
CHGA-
-
-
-
3Gain-
CHI3L1-
-
-
-
3Gain-
CHIT1p.G102S
Missense
SNP
0.093
3Gain-
CHML-
-
-
-
3Gain-
CHMP4A-
-
-
-
3Gain-
CHMP4B-
-
-
-
3Gain-
CHMP4C-
-
-
-
3Gain-
CHMP5-
-
-
-
1Loss-
CHMP6-
-
-
-
4Gain-
CHMP7-
-
-
-
1Loss-
CHP1-
-
-
-
3Gain-
CHRAC1-
-
-
-
3Gain-
CHRFAM7A-
-
-
-
3Gain-
CHRM3-
-
-
-
3Gain-
CHRM5-
-
-
-
3Gain-
CHRNA2-
-
-
-
1Loss-
CHRNA3-
-
-
-
3Gain-
CHRNA4-
-
-
-
3Gain-
CHRNA5-
-
-
-
3Gain-
CHRNA6-
-
-
-
1Loss-
CHRNA7-
-
-
-
3Gain-
CHRNA9-
-
-
-
1Loss-
CHRNB2-
-
-
-
3Gain-
CHRNB3-
-
-
-
1Loss-
CHRNB4-
-
-
-
3Gain-
CHST14-
-
-
-
3Gain-
CHST3p.R357Q
Missense
SNP
0.085
2--
CHSY1-
-
-
-
3Gain-
CHTOP-
-
-
-
3Gain-
CHURC1-
-
-
-
3Gain-
CHURC1-FNTB-
-
-
-
3Gain-
CIAO2A-
-
-
-
3Gain-
CIART-
-
-
-
3Gain-
CIB1-
-
-
-
3Gain-
CIB2-
-
-
-
3Gain-
CIDEB-
-
-
-
3Gain-
CILPp.I395T
Missense
SNP
0.094
3Gain-
CINP-
-
-
-
3Gain-
CIPC-
-
-
-
3Gain-
CISD3-
-
-
-
6Amp-
CKB-
-
-
-
3Gain-
CKMT1A-
-
-
-
3Gain-
CKMT1B-
-
-
-
3Gain-
CKS1B-
-
-
-
3Gain-
CLBA1-
-
-
-
3Gain-
CLDN23-
-
-
-
1Loss-
CLEC14A-
-
-
-
3Gain-
CLK2-
-
-
-
3Gain-
CLK3-
-
-
-
3Gain-
CLMN-
-
-
-
3Gain-
CLN6-
-
-
-
3Gain-
CLN8-
-
-
-
1Loss-
CLNK-
-
-
-
1Loss-
CLPX-
-
-
-
3Gain-
CLRN2-
-
-
-
1Loss-
CLTA-
-
-
-
1Loss-
CLTC-
-
-
-
4Gain-
CLU-
-
-
-
1Loss-
CLVS1-
-
-
-
1Loss-
CMA1-
-
-
-
3Gain-
CMTM5-
-
-
-
3Gain-
CMTR2p.N416S
Missense
SNP
0.071
2--
CNBD1-
-
-
-
3Gain-
CNBD2-
-
-
-
3Gain-
CNGA1-
-
-
-
1Loss-
CNGB3-
-
-
-
3Gain-
CNIH1-
-
-
-
3Gain-
CNIH3-
-
-
-
3Gain-
CNIH4-
-
-
-
3Gain-
CNOT7-
-
-
-
1Loss-
CNP-
-
-
-
3Gain-
CNST-
-
-
-
3Gain-
CNTD1-
-
-
-
3Gain-
CNTFR-
-
-
-
1Loss-
CNTLN-
-
-
-
1Loss-
CNTN2-
-
-
-
3Gain-
CNTNAP1-
-
-
-
3Gain-
CNTNAP3-
-
-
-
1Loss-
CNTNAP3C-
-
-
-
1Loss-
COA3-
-
-
-
3Gain-
COA6-
-
-
-
3Gain-
COASY-
-
-
-
3Gain-
COBLp.P583L
Missense
SNP
0.068
2--
COCH-
-
-
-
3Gain-
COG1-
-
-
-
4Gain-
COG2-
-
-
-
3Gain-
COIL-
-
-
-
4Gain-
COL14A1-
-
-
-
3Gain-
COL1A1-
-
-
-
4Gain-
COL20A1-
-
-
-
3Gain-
COL22A1-
-
-
-
3Gain-
COL6A3p.D2831H
Missense
SNP
0.059
2--
COL9A3-
-
-
-
3Gain-
COLEC10-
-
-
-
3Gain-
COLGALT2-
-
-
-
3Gain-
COMMD4-
-
-
-
3Gain-
COMMD5-
-
-
-
3Gain-
COMMD7-
-
-
-
3Gain-
COP1-
-
-
-
3Gain-
COPA-
-
-
-
3Gain-
COPS2-
-
-
-
3Gain-
COPS5-
-
-
-
1Loss-
COQ6-
-
-
-
3Gain-
COQ8A-
-
-
-
3Gain-
CORIN-
-
-
-
1Loss-
CORO2B-
-
-
-
3Gain-
COX11-
-
-
-
4Gain-
COX16-
-
-
-
3Gain-
COX20-
-
-
-
3Gain-
COX4I2-
-
-
-
3Gain-
COX5A-
-
-
-
3Gain-
COX6C-
-
-
-
3Gain-
COX8C-
-
-
-
3Gain-
CPA6-
-
-
-
1Loss-
CPEB1-
-
-
-
3Gain-
CPEB2-
-
-
-
1Loss-
CPLX1-
-
-
-
1Loss-
CPLX3-
-
-
-
3Gain-
CPNE1-
-
-
-
3Gain-
CPNE3-
-
-
-
3Gain-
CPNE6-
-
-
-
3Gain-
CPQ-
-
-
-
3Gain-
CPSF1-
-
-
-
3Gain-
CPSF2-
-
-
-
3Gain-
CPSF4L-
-
-
-
4Gain-
CPZ-
-
-
-
1Loss-
CR1p.D2190N
Missense
SNP
0.147
3Gain-
CR1L-
-
-
-
3Gain-
CR2-
-
-
-
3Gain-
CRABP1-
-
-
-
3Gain-
CRABP2-
-
-
-
3Gain-
CRB1-
-
-
-
3Gain-
CRCT1-
-
-
-
3Gain-
CREB3-
-
-
-
1Loss-
CREB3L4-
-
-
-
3Gain-
CREG1-
-
-
-
3Gain-
CRH-
-
-
-
1Loss-
CRIP1-
-
-
-
3Gain-
CRIP2-
-
-
-
3Gain-
CRISPLD1-
-
-
-
3Gain-
CRMP1-
-
-
-
1Loss-
CRNN-
-
-
-
3Gain-
CRP-
-
-
-
3Gain-
CRTC2-
-
-
-
3Gain-
CRTC3-
-
-
-
3Gain-
CSE1L-
-
-
-
3Gain-
CSF3-
-
-
-
6Amp-
CSGALNACT1-
-
-
-
1Loss-
CSH1-
-
-
-
8Amp-
CSH2-
-
-
-
8Amp-
CSHL1-
-
-
-
8Amp-
CSK-
-
-
-
3Gain-
CSKMT-
-
-
-
2-CSKMT--TMBIM6
CSMD1-
-
-
-
1Loss-
CSMD3-
-
-
-
3Gain-
CSNK1D-
-
-
-
4Gain-
CSNK1G1-
-
-
-
3Gain-
CSPG4-
-
-
-
3Gain-
CSPP1-
-
-
-
1Loss-
CSRP1-
-
-
-
3Gain-
CSTF1-
-
-
-
3Gain-
CT62-
-
-
-
3Gain-
CTBP1-
-
-
-
1Loss-
CTBP2p.L392P
Missense
SNP
0.123
2--
CTCFL-
-
-
-
3Gain-
CTDSPL2-
-
-
-
3Gain-
CTHRC1-
-
-
-
3Gain-
CTNNBL1-
-
-
-
3Gain-
CTSA-
-
-
-
3Gain-
CTSB-
-
-
-
1Loss-
CTSE-
-
-
-
3Gain-
CTSG-
-
-
-
3Gain-
CTSH-
-
-
-
3Gain-
CTSK-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CTSZ-
-
-
-
3Gain-
CTXN2-
-
-
-
3Gain-
CUEDC1-
-
-
-
4Gain-
CWC25-
-
-
-
6Amp-
CWH43-
-
-
-
1Loss-
CYB561-
-
-
-
8Amp-
CYB5R1-
-
-
-
3Gain-
CYBC1-
-
-
-
4Gain-
CYC1-
-
-
-
3Gain-
CYFIP1-
-
-
-
3Gain-
CYGB-
-
-
-
4Gain-
CYHR1-
-
-
-
3Gain-
CYP11A1-
-
-
-
3Gain-
CYP11B1-
-
-
-
3Gain-
CYP11B2-
-
-
-
3Gain-
CYP19A1-
-
-
-
3Gain-
CYP1A1-
-
-
-
3Gain-
CYP1A2-
-
-
-
3Gain-
CYP24A1-
-
-
-
3Gain-
CYP46A1-
-
-
-
3Gain-
CYP7A1-
-
-
-
1Loss-
CYP7B1-
-
-
-
1Loss-
CYTH1-
-
-
-
4Gain-
CYTL1-
-
-
-
1Loss-
DAAM1-
-
-
-
3Gain-
DACT1-
-
-
-
3Gain-
DAD1-
-
-
-
3Gain-
DAP3-
-
-
-
3Gain-
DAPK2-
-
-
-
3Gain-
DARS2-
-
-
-
3Gain-
DBF4B-
-
-
-
3Gain-
DBNDD2-
-
-
-
3Gain-
DCAF10-
-
-
-
1Loss-
DCAF11-
-
-
-
3Gain-
DCAF12-
-
-
-
1Loss-
DCAF13-
-
-
-
3Gain-
DCAF16-
-
-
-
1Loss-
DCAF4-
-
-
-
3Gain-
DCAF4L1-
-
-
-
3Gain-
DCAF4L2-
-
-
-
3Gain-
DCAF5-
-
-
-
3Gain-
DCAF6-
-
-
-
3Gain-
DCAF7-
-
-
-
8Amp-
DCAF8-
-
-
-
3Gain-
DCAKD-
-
-
-
3Gain-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCSTAMP-
-
-
-
3Gain-
DCTN3-
-
-
-
1Loss-
DCTN6-
-
-
-
1Loss-
DCXR-
-
-
-
4Gain-
DDHD1-
-
-
-
3Gain-
DDHD2-
-
-
-
1Loss-
DDR2-
-
-
-
3Gain-
DDX24-
-
-
-
3Gain-
DDX27-
-
-
-
3Gain-
DDX42-
-
-
-
8Amp-
DDX5-
-
-
-
4Gain-
DDX52-
-
-
-
6Amp-
DDX58-
-
-
-
1Loss-
DDX59-
-
-
-
3Gain-
DECR1-
-
-
-
3Gain-
DEDD-
-
-
-
3Gain-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB115-
-
-
-
3Gain-
DEFB116-
-
-
-
3Gain-
DEFB118-
-
-
-
3Gain-
DEFB119-
-
-
-
3Gain-
DEFB121-
-
-
-
3Gain-
DEFB123-
-
-
-
3Gain-
DEFB124-
-
-
-
3Gain-
DEFB134-
-
-
-
1Loss-
DEFB135-
-
-
-
1Loss-
DEFB136-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DEGS1-
-
-
-
3Gain-
DEGS2-
-
-
-
3Gain-
DENND1B-
-
-
-
3Gain-
DENND3-
-
-
-
3Gain-
DENND4A-
-
-
-
3Gain-
DENND4B-
-
-
-
3Gain-
DENND4C-
-
-
-
1Loss-
DEPTOR-
-
-
-
3Gain-
DERL1-
-
-
-
3Gain-
DESI2-
-
-
-
3Gain-
DET1-
-
-
-
3Gain-
DGAT1-
-
-
-
3Gain-
DGKE-
-
-
-
4Gain-
DGKQ-
-
-
-
1Loss-
DGLUCY-
-
-
-
3Gain-
DHRS1-
-
-
-
3Gain-
DHRS2-
-
-
-
3Gain-
DHRS4-
-
-
-
3Gain-
DHRS4L2-
-
-
-
3Gain-
DHRS7-
-
-
-
3Gain-
DHX15-
-
-
-
1Loss-
DHX35-
-
-
-
3Gain-
DHX40-
-
-
-
4Gain-
DHX58-
-
-
-
3Gain-
DHX9-
-
-
-
3Gain-
DICER1-
-
-
-
3Gain-
DIDO1-
-
-
-
3Gain-
DIO2-
-
-
-
3Gain-
DIO3-
-
-
-
3Gain-
DIS3L-
-
-
-
3Gain-
DISC1-
-
-
-
3Gain-
DISP1-
-
-
-
3Gain-
DISP2-
-
-
-
3Gain-
DKK4-
-
-
-
1Loss-
DLC1-
-
-
-
1Loss-
DLGAP2-
-
-
-
1Loss-
DLGAP4-
-
-
-
3Gain-
DLGAP5-
-
-
-
3Gain-
DLK1-
-
-
-
3Gain-
DLL3p.L218P
Missense
SNP
0.066
2--
DLL4-
-
-
-
3Gain-
DLST-
-
-
-
3Gain-
DLX3-
-
-
-
4Gain-
DLX4-
-
-
-
4Gain-
DMAC1-
-
-
-
1Loss-
DMDp.R2155W
Missense
SNP
0.056
NDND-
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
1Loss-
DMTN-
-
-
-
1Loss-
DMXL2-
-
-
-
3Gain-
DNAAF2-
-
-
-
3Gain-
DNAAF4-
-
-
-
3Gain-
DNAH14-
-
-
-
3Gain-
DNAH17-
-
-
-
4Gain-
DNAI1-
-
-
-
1Loss-
DNAI2-
-
-
-
4Gain-
DNAJA1-
-
-
-
1Loss-
DNAJA4-
-
-
-
3Gain-
DNAJB5-
-
-
-
1Loss-
DNAJC17-
-
-
-
3Gain-
DNAJC5-
-
-
-
3Gain-
DNAJC5B-
-
-
-
1Loss-
DNAJC7-
-
-
-
3Gain-
DNAL1-
-
-
-
3Gain-
DNM3-
-
-
-
3Gain-
DNMT3Ap.Q362*
Nonsense
SNP
0.866
2--
DNMT3B-
-
-
-
3Gain-
DNTTIP1-
-
-
-
3Gain-
DOCK5-
-
-
-
1Loss-
DOCK8p.N413S
Missense
SNP
0.240
1Loss-
DOK2-
-
-
-
1Loss-
DOK5-
-
-
-
3Gain-
DOK7-
-
-
-
1Loss-
DPCR1p.E720G
Missense
SNP
0.060
NDND-
DPF3-
-
-
-
3Gain-
DPH6-
-
-
-
3Gain-
DPM1-
-
-
-
3Gain-
DPM3-
-
-
-
3Gain-
DPP8-
-
-
-
3Gain-
DPT-
-
-
-
3Gain-
DPY19L2p.V757I
Missense
SNP
0.052
2--
DPY19L4-
-
-
-
3Gain-
DPYS-
-
-
-
3Gain-
DPYSL2-
-
-
-
1Loss-
DRC7p.C186S
Missense
SNP
0.124
2--
DRD5-
-
-
-
1Loss-
DSCC1-
-
-
-
3Gain-
DSN1-
-
-
-
3Gain-
DSTYK-
-
-
-
3Gain-
DTD2-
-
-
-
3Gain-
DTHD1-
-
-
-
1Loss-
DTL-
-
-
-
3Gain-
DTWD1-
-
-
-
3Gain-
DUOX1-
-
-
-
3Gain-
DUOX2-
-
-
-
3Gain-
DUOXA1-
-
-
-
3Gain-
DUOXA2-
-
-
-
3Gain-
DUS1L-
-
-
-
4Gain-
DUSP10-
-
-
-
3Gain-
DUSP12-
-
-
-
3Gain-
DUSP15-
-
-
-
3Gain-
DUSP23-
-
-
-
3Gain-
DUSP26-
-
-
-
1Loss-
DUSP27-
-
-
-
3Gain-
DUSP4-
-
-
-
1Loss-
DUT-
-
-
-
3Gain-
DYNC1H1-
-
-
-
3Gain-
DYNLL2-
-
-
-
4Gain-
DYNLRB1-
-
-
-
3Gain-
DYRK3-
-
-
-
3Gain-
E2F1-
-
-
-
3Gain-
E2F5-
-
-
-
3Gain-
EAPP-
-
-
-
3Gain-
EBAG9-
-
-
-
3Gain-
EBF2-
-
-
-
1Loss-
ECM1-
-
-
-
3Gain-
EDARADD-
-
-
-
3Gain-
EDC3-
-
-
-
3Gain-
EDDM3A-
-
-
-
3Gain-
EDDM3B-
-
-
-
3Gain-
EDEM2-
-
-
-
3Gain-
EDEM3-
-
-
-
3Gain-
EDN3-
-
-
-
3Gain-
EEF1A2-
-
-
-
3Gain-
EEF1D-
-
-
-
3Gain-
EFCAB1-
-
-
-
1Loss-
EFCAB11-
-
-
-
3Gain-
EFCAB2-
-
-
-
3Gain-
EFCAB3-
-
-
-
8Amp-
EFCAB8-
-
-
-
3Gain-
EFL1-
-
-
-
3Gain-
EFNA1-
-
-
-
3Gain-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EFR3A-
-
-
-
3Gain-
EFS-
-
-
-
3Gain-
EFTUD2-
-
-
-
3Gain-
EGLN1-
-
-
-
3Gain-
EGLN3-
-
-
-
3Gain-
EGR3-
-
-
-
1Loss-
EHD4-
-
-
-
3Gain-
EID1-
-
-
-
3Gain-
EIF1-
-
-
-
3Gain-
EIF2AK4-
-
-
-
3Gain-
EIF2B2-
-
-
-
3Gain-
EIF2D-
-
-
-
3Gain-
EIF2S1-
-
-
-
3Gain-
EIF2S2-
-
-
-
3Gain-
EIF3E-
-
-
-
3Gain-
EIF3H-
-
-
-
3Gain-
EIF3J-
-
-
-
3Gain-
EIF4A3-
-
-
-
4Gain-
EIF4EBP1-
-
-
-
1Loss-
EIF5-
-
-
-
3Gain-
EIF6-
-
-
-
3Gain-
ELAVL2-
-
-
-
1Loss-
ELF3-
-
-
-
3Gain-
ELK4-
-
-
-
3Gain-
ELL3-
-
-
-
3Gain-
ELMO2-
-
-
-
3Gain-
ELMSAN1-
-
-
-
3Gain-
ELOC-
-
-
-
3Gain-
ELP3-
-
-
-
1Loss-
EMC2-
-
-
-
3Gain-
EMC4-
-
-
-
3Gain-
EMC7-
-
-
-
3Gain-
EMC9-
-
-
-
3Gain-
EME1-
-
-
-
4Gain-
EMILIN3-
-
-
-
3Gain-
EML1-
-
-
-
3Gain-
EML5-
-
-
-
3Gain-
ENAH-
-
-
-
3Gain-
ENDOV-
-
-
-
4Gain-
ENGASE-
-
-
-
4Gain-
ENHO-
-
-
-
1Loss-
ENPP2-
-
-
-
3Gain-
ENPP7-
-
-
-
4Gain-
ENSA-
-
-
-
3Gain-
ENTPD4-
-
-
-
1Loss-
ENTPD5-
-
-
-
3Gain-
ENY2-
-
-
-
3Gain-
EPB41L1-
-
-
-
3Gain-
EPB42-
-
-
-
3Gain-
EPHX1-
-
-
-
3Gain-
EPHX2-
-
-
-
1Loss-
EPN3-
-
-
-
4Gain-
EPOP-
-
-
-
6Amp-
EPPIN-
-
-
-
3Gain-
EPPIN-WFDC6-
-
-
-
3Gain-
EPPK1-
-
-
-
3Gain-
EPRS-
-
-
-
3Gain-
EPX-
-
-
-
4Gain-
EQTN-
-
-
-
1Loss-
ERBB2-
-
-
-
6Amp-
ERG28-
-
-
-
3Gain-
ERGIC3-
-
-
-
3Gain-
ERH-
-
-
-
3Gain-
ERI1-
-
-
-
1Loss-
ERICH1-
-
-
-
1Loss-
ERICH5-
-
-
-
3Gain-
ERLIN2-
-
-
-
1Loss-
ERMP1-
-
-
-
1Loss-
ERN1-
-
-
-
8Amp-
ERO1A-
-
-
-
3Gain-
ERO1B-
-
-
-
3Gain-
ESCO2-
-
-
-
1Loss-
ESR2-
-
-
-
3Gain-
ESRP1-
-
-
-
3Gain-
ESRRB-
-
-
-
3Gain-
ESRRG-
-
-
-
3Gain-
ETFA-
-
-
-
3Gain-
ETNK2-
-
-
-
3Gain-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
EVC-
-
-
-
1Loss-
EVC2-
-
-
-
1Loss-
EVL-
-
-
-
3Gain-
EVPL-
-
-
-
4Gain-
EXD1-
-
-
-
3Gain-
EXD2-
-
-
-
3Gain-
EXD3p.R20Q
Missense
SNP
0.062
2--
EXO1-
-
-
-
3Gain-
EXOC3L4-
-
-
-
3Gain-
EXOC5-
-
-
-
3Gain-
EXOC7-
-
-
-
4Gain-
EXOC8-
-
-
-
3Gain-
EXOSC3-
-
-
-
1Loss-
EXOSC4-
-
-
-
3Gain-
EXOSC9p.I366V
Missense
SNP
0.075
2--
EXT1-
-
-
-
3Gain-
EXTL3-
-
-
-
1Loss-
EYA1-
-
-
-
3Gain-
EYA2-
-
-
-
3Gain-
EZH1-
-
-
-
3Gain-
F11R-
-
-
-
3Gain-
F13B-
-
-
-
3Gain-
F5-
-
-
-
3Gain-
FAAP100-
-
-
-
4Gain-
FABP12-
-
-
-
3Gain-
FABP4-
-
-
-
3Gain-
FABP5-
-
-
-
3Gain-
FABP9-
-
-
-
3Gain-
FADS6-
-
-
-
4Gain-
FAH-
-
-
-
3Gain-
FAM104A-
-
-
-
4Gain-
FAM110B-
-
-
-
1Loss-
FAM114A1-
-
-
-
1Loss-
FAM129A-
-
-
-
3Gain-
FAM135B-
-
-
-
3Gain-
FAM160B2-
-
-
-
1Loss-
FAM161B-
-
-
-
3Gain-
FAM163A-
-
-
-
3Gain-
FAM166B-
-
-
-
1Loss-
FAM167A-
-
-
-
1Loss-
FAM169B-
-
-
-
3Gain-
FAM174B-
-
-
-
3Gain-
FAM177A1-
-
-
-
3Gain-
FAM177B-
-
-
-
3Gain-
FAM181A-
-
-
-
3Gain-
FAM184B-
-
-
-
1Loss-
FAM187A-
-
-
-
3Gain-
FAM189A1-
-
-
-
3Gain-
FAM189B-
-
-
-
3Gain-
FAM193A-
-
-
-
1Loss-
FAM200B-
-
-
-
1Loss-
FAM205A-
-
-
-
1Loss-
FAM205C-
-
-
-
1Loss-
FAM209A-
-
-
-
3Gain-
FAM209B-
-
-
-
3Gain-
FAM20A-
-
-
-
4Gain-
FAM20B-
-
-
-
3Gain-
FAM210B-
-
-
-
3Gain-
FAM214A-
-
-
-
3Gain-
FAM214B-
-
-
-
1Loss-
FAM217B-
-
-
-
3Gain-
FAM219A-
-
-
-
1Loss-
FAM219B-
-
-
-
3Gain-
FAM221B-
-
-
-
1Loss-
FAM227B-
-
-
-
3Gain-
FAM49B-
-
-
-
3Gain-
FAM53A-
-
-
-
1Loss-
FAM71A-
-
-
-
3Gain-
FAM71D-
-
-
-
3Gain-
FAM78B-
-
-
-
3Gain-
FAM81A-
-
-
-
1Loss-
FAM83A-
-
-
-
3Gain-
FAM83C-
-
-
-
3Gain-
FAM83D-
-
-
-
3Gain-
FAM83H-
-
-
-
3Gain-
FAM84B-
-
-
-
3Gain-
FAM86B1-
-
-
-
1Loss-
FAM89A-
-
-
-
3Gain-
FAM91A1-
-
-
-
3Gain-
FAM92A-
-
-
-
3Gain-
FAM95C-
-
-
-
1Loss-
FAM98B-
-
-
-
3Gain-
FAN1-
-
-
-
3Gain-
FANCG-
-
-
-
1Loss-
FANCI-
-
-
-
3Gain-
FANCM-
-
-
-
3Gain-
FASLG-
-
-
-
3Gain-
FASN-
-
-
-
4Gain-
FAT1p.N1662S
Missense
SNP
0.068
2--
FBF1-
-
-
-
4Gain-
FBLN5-
-
-
-
3Gain-
FBN1-
-
-
-
3Gain-
FBXL20-
-
-
-
6Amp-
FBXL22-
-
-
-
3Gain-
FBXL5-
-
-
-
1Loss-
FBXL6-
-
-
-
3Gain-
FBXO10-
-
-
-
1Loss-
FBXO16-
-
-
-
1Loss-
FBXO22-
-
-
-
3Gain-
FBXO25-
-
-
-
1Loss-
FBXO28-
-
-
-
3Gain-
FBXO32-
-
-
-
3Gain-
FBXO33-
-
-
-
3Gain-
FBXO34-
-
-
-
3Gain-
FBXO43-
-
-
-
3Gain-
FBXO47-
-
-
-
6Amp-
FBXW8p.T536M
Missense
SNP
0.056
2--
FCAMR-
-
-
-
3Gain-
FCER1A-
-
-
-
3Gain-
FCER1G-
-
-
-
3Gain-
FCF1-
-
-
-
3Gain-
FCGR1A-
-
-
-
3Gain-
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
3Gain-
FCGR2C-
-
-
-
3Gain-
FCGR3A-
-
-
-
3Gain-
FCGR3B-
-
-
-
3Gain-
FCMR-
-
-
-
3Gain-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3-
-
-
-
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5-
-
-
-
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDFT1-
-
-
-
1Loss-
FDPS-
-
-
-
3Gain-
FDXR-
-
-
-
4Gain-
FEM1B-
-
-
-
3Gain-
FER1L6-
-
-
-
3Gain-
FERMT2-
-
-
-
3Gain-
FES-
-
-
-
3Gain-
FGF17-
-
-
-
1Loss-
FGF20-
-
-
-
1Loss-
FGF7-
-
-
-
3Gain-
FGFBP1-
-
-
-
1Loss-
FGFBP2-
-
-
-
1Loss-
FGFR1-
-
-
-
1Loss-
FGFR3-
-
-
-
1Loss-
FGFRL1-
-
-
-
1Loss-
FGL1-
-
-
-
1Loss-
FH-
-
-
-
3Gain-
FITM1-
-
-
-
3Gain-
FITM2-
-
-
-
3Gain-
FKBP10-
-
-
-
3Gain-
FKBP15p.A106T
Missense
SNP
0.056
2--
FKBP3-
-
-
-
3Gain-
FLAD1-
-
-
-
3Gain-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLRT2-
-
-
-
3Gain-
FLVCR1-
-
-
-
3Gain-
FLVCR2-
-
-
-
3Gain-
FMN1-
-
-
-
3Gain-
FMN2-
-
-
-
3Gain-
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3-
-
-
-
3Gain-
FMO4-
-
-
-
3Gain-
FMO5-
-
-
-
3Gain-
FMOD-
-
-
-
3Gain-
FN3K-
-
-
-
4Gain-
FN3KRP-
-
-
-
4Gain-
FNDC11-
-
-
-
3Gain-
FNDC8-
-
-
-
6Amp-
FNTA-
-
-
-
1Loss-
FNTB-
-
-
-
3Gain-
FO393400.1-
-
-
-
3Gain-
FOCAD-
-
-
-
1Loss-
FOS-
-
-
-
3Gain-
FOXA1-
-
-
-
3Gain-
FOXB1-
-
-
-
1Loss-
FOXG1-
-
-
-
3Gain-
FOXH1-
-
-
-
3Gain-
FOXJ1-
-
-
-
4Gain-
FOXK2-
-
-
-
4Gain-
FOXN3-
-
-
-
3Gain-
FOXS1-
-
-
-
3Gain-
FP565260.1-
-
-
-
1Loss-
FP565260.2-
-
-
-
1Loss-
FP565260.3-
-
-
-
1Loss-
FP565260.4-
-
-
-
1Loss-
FP565260.6-
-
-
-
1Loss-
FREM1-
-
-
-
1Loss-
FRMD5-
-
-
-
3Gain-
FRMD6-
-
-
-
3Gain-
FRMPD1-
-
-
-
1Loss-
FRYL-
-
-
-
1Loss-
FSBP-
-
-
-
3Gain-
FSCB-
-
-
-
3Gain-
FSCN2-
-
-
-
4Gain-
FSD2-
-
-
-
3Gain-
FSIP1-
-
-
-
3Gain-
FSIP2p.Y5672N
p.R5864Q
p.R6049H
Missense
Missense
Missense
SNP
SNP
SNP
0.089
0.067
0.056
2--
FTSJ3-
-
-
-
8Amp-
FURIN-
-
-
-
3Gain-
FUT10-
-
-
-
1Loss-
FUT8-
-
-
-
3Gain-
FZD3-
-
-
-
1Loss-
FZD6-
-
-
-
3Gain-
G0S2-
-
-
-
3Gain-
G2E3-
-
-
-
3Gain-
G6PC-
-
-
-
3Gain-
GAA-
-
-
-
4Gain-
GABPB1-
-
-
-
3Gain-
GABPB2-
-
-
-
3Gain-
GABRA5-
-
-
-
3Gain-
GABRB3-
-
-
-
3Gain-
GABRG3-
-
-
-
3Gain-
GAK-
-
-
-
1Loss-
GALC-
-
-
-
3Gain-
GALK1-
-
-
-
4Gain-
GALK2-
-
-
-
3Gain-
GALNT16-
-
-
-
3Gain-
GALNT2-
-
-
-
3Gain-
GALR2-
-
-
-
4Gain-
GALT-
-
-
-
1Loss-
GANC-
-
-
-
3Gain-
GAS2L2-
-
-
-
6Amp-
GAST-
-
-
-
3Gain-
GATA4-
-
-
-
1Loss-
GATA5-
-
-
-
3Gain-
GATAD2B-
-
-
-
3Gain-
GATD3B-
-
-
-
1Loss-
GATM-
-
-
-
3Gain-
GBA-
-
-
-
3Gain-
GBA2-
-
-
-
1Loss-
GBA3-
-
-
-
1Loss-
GCGR-
-
-
-
4Gain-
GCH1-
-
-
-
3Gain-
GCHFR-
-
-
-
3Gain-
GCNT3-
-
-
-
1Loss-
GCNT7-
-
-
-
3Gain-
GCOM1-
-
-
-
1Loss-
GCSAML-
-
-
-
3Gain-
GCSAML-AS1-
-
-
-
3Gain-
GDAP1-
-
-
-
3Gain-
GDAP1L1-
-
-
-
3Gain-
GDF5-
-
-
-
3Gain-
GDF6-
-
-
-
3Gain-
GDPD1-
-
-
-
4Gain-
GDPGP1-
-
-
-
3Gain-
GEM-
-
-
-
3Gain-
GEMIN2-
-
-
-
3Gain-
GFAP-
-
-
-
3Gain-
GFRA2-
-
-
-
1Loss-
GGA3-
-
-
-
4Gain-
GGH-
-
-
-
1Loss-
GGPS1-
-
-
-
3Gain-
GGT7-
-
-
-
3Gain-
GH1-
-
-
-
8Amp-
GH2-
-
-
-
8Amp-
GHDC-
-
-
-
3Gain-
GHRH-
-
-
-
3Gain-
GID8-
-
-
-
3Gain-
GINS4-
-
-
-
1Loss-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJC1-
-
-
-
3Gain-
GJC2-
-
-
-
3Gain-
GJD2-
-
-
-
3Gain-
GJD3-
-
-
-
6Amp-
GLCE-
-
-
-
3Gain-
GLDC-
-
-
-
1Loss-
GLDN-
-
-
-
3Gain-
GLI4-
-
-
-
3Gain-
GLIPR2-
-
-
-
1Loss-
GLIS3-
-
-
-
1Loss-
GLMP-
-
-
-
3Gain-
GLRX2-
-
-
-
3Gain-
GLRX5-
-
-
-
3Gain-
GLS2p.L581P
Missense
SNP
0.089
2--
GLUL-
-
-
-
3Gain-
GMEB2-
-
-
-
3Gain-
GMFB-
-
-
-
3Gain-
GML-
-
-
-
3Gain-
GMPR2-
-
-
-
3Gain-
GNA13-
-
-
-
4Gain-
GNAS-
-
-
-
3Gain-
GNB5-
-
-
-
3Gain-
GNE-
-
-
-
1Loss-
GNG2-
-
-
-
3Gain-
GNG4-
-
-
-
3Gain-
GNPAT-
-
-
-
3Gain-
GNPNAT1-
-
-
-
3Gain-
GNRH1-
-
-
-
1Loss-
GOLGA5p.F350L
Missense
SNP
0.079
3Gain-
GOLGA6A-
-
-
-
3Gain-
GOLGA6B-
-
-
-
3Gain-
GOLGA6C-
-
-
-
3Gain-
GOLGA6D-
-
-
-
3Gain-
GOLGA6L10-
-
-
-
3Gain-
GOLGA6L2-
-
-
-
3Gain-
GOLGA6L7-
-
-
-
3Gain-
GOLGA7-
-
-
-
1Loss-
GOLGA8A-
-
-
-
3Gain-
GOLGA8B-
-
-
-
3Gain-
GOLGA8F-
-
-
-
3Gain-
GOLGA8G-
-
-
-
3Gain-
GOLGA8H-
-
-
-
3Gain-
GOLGA8J-
-
-
-
3Gain-
GOLGA8K-
-
-
-
3Gain-
GOLGA8M-
-
-
-
3Gain-
GOLGA8N-
-
-
-
3Gain-
GOLGA8O-
-
-
-
3Gain-
GOLGA8Q-
-
-
-
3Gain-
GOLGA8R-
-
-
-
3Gain-
GOLGA8S-
-
-
-
3Gain-
GOLGA8T-
-
-
-
3Gain-
GOLPH3L-
-
-
-
3Gain-
GOLT1A-
-
-
-
3Gain-
GON4L-
-
-
-
3Gain-
GON7-
-
-
-
3Gain-
GORAB-
-
-
-
3Gain-
GOT1L1-
-
-
-
1Loss-
GPA33-
-
-
-
3Gain-
GPAA1-
-
-
-
3Gain-
GPAT4-
-
-
-
1Loss-
GPATCH2-
-
-
-
3Gain-
GPATCH2L-
-
-
-
3Gain-
GPATCH4-
-
-
-
3Gain-
GPHB5-
-
-
-
3Gain-
GPHN-
-
-
-
3Gain-
GPIHBP1-
-
-
-
3Gain-
GPR132-
-
-
-
3Gain-
GPR135-
-
-
-
3Gain-
GPR137B-
-
-
-
3Gain-
GPR137C-
-
-
-
3Gain-
GPR142-
-
-
-
4Gain-
GPR161-
-
-
-
3Gain-
GPR176-
-
-
-
3Gain-
GPR179-
-
-
-
6Amp-
GPR20-
-
-
-
3Gain-
GPR25-
-
-
-
3Gain-
GPR33-
-
-
-
3Gain-
GPR37L1-
-
-
-
3Gain-
GPR52-
-
-
-
3Gain-
GPR65-
-
-
-
3Gain-
GPR68-
-
-
-
3Gain-
GPR78-
-
-
-
1Loss-
GPR89A-
-
-
-
3Gain-
GPR89B-
-
-
-
3Gain-
GPRC5C-
-
-
-
4Gain-
GPRIN2-
-
-
-
3Gain-
GPS1-
-
-
-
4Gain-
GPT-
-
-
-
3Gain-
GPX2-
-
-
-
3Gain-
GRAMD2A-
-
-
-
3Gain-
GRB2-
-
-
-
4Gain-
GRB7-
-
-
-
6Amp-
GREM1-
-
-
-
3Gain-
GREM2-
-
-
-
3Gain-
GRHL2-
-
-
-
3Gain-
GRHPR-
-
-
-
1Loss-
GRIN2C-
-
-
-
4Gain-
GRINA-
-
-
-
3Gain-
GRK4-
-
-
-
1Loss-
GRPEL1-
-
-
-
1Loss-
GSC-
-
-
-
3Gain-
GSDMA-
-
-
-
6Amp-
GSDMB-
-
-
-
6Amp-
GSDMC-
-
-
-
3Gain-
GSDMD-
-
-
-
3Gain-
GSKIP-
-
-
-
3Gain-
GSR-
-
-
-
1Loss-
GSS-
-
-
-
3Gain-
GSTZ1-
-
-
-
3Gain-
GTF2A1-
-
-
-
3Gain-
GTF2A2-
-
-
-
1Loss-
GTF2E2-
-
-
-
1Loss-
GTF3C1p.F1959S
Missense
SNP
0.057
2--
GTSF1L-
-
-
-
3Gain-
GUK1-
-
-
-
3Gain-
GZMB-
-
-
-
3Gain-
GZMH-
-
-
-
3Gain-
H2BFMp.Q73*
Nonsense
SNP
0.148
NDND-
H3F3A-
-
-
-
3Gain-
H3F3B-
-
-
-
4Gain-
HACD3-
-
-
-
3Gain-
HACD4-
-
-
-
1Loss-
HAP1-
-
-
-
3Gain-
HAPLN2-
-
-
-
3Gain-
HAPLN3-
-
-
-
3Gain-
HAS1p.C14R
Missense
SNP
0.067
2--
HAS2-
-
-
-
3Gain-
HAUS2-
-
-
-
3Gain-
HAUS3-
-
-
-
1Loss-
HAUS4-
-
-
-
3Gain-
HAUS6-
-
-
-
1Loss-
HAX1-
-
-
-
3Gain-
HCAR3p.H253R
Missense
SNP
0.733
2--
HCK-
-
-
-
3Gain-
HCN3-
-
-
-
3Gain-
HCN4-
-
-
-
3Gain-
HCRT-
-
-
-
3Gain-
HDC-
-
-
-
3Gain-
HDDC3-
-
-
-
3Gain-
HDGF-
-
-
-
3Gain-
HDGFL3-
-
-
-
3Gain-
HEATR1-
-
-
-
3Gain-
HEATR4-
-
-
-
3Gain-
HEATR5A-
-
-
-
3Gain-
HEATR6-
-
-
-
4Gain-
HEATR9-
-
-
-
6Amp-
HECTD1-
-
-
-
3Gain-
HELZ-
-
-
-
4Gain-
HELZ2-
-
-
-
3Gain-
HERC1-
-
-
-
3Gain-
HERC2-
-
-
-
3Gain-
HEXA-
-
-
-
3Gain-
HEXDC-
-
-
-
4Gain-
HEY1-
-
-
-
3Gain-
HGFAC-
-
-
-
1Loss-
HGH1-
-
-
-
3Gain-
HGS-
-
-
-
4Gain-
HGSNAT-
-
-
-
1Loss-
HHAT-
-
-
-
3Gain-
HHIPL1-
-
-
-
3Gain-
HHIPL2-
-
-
-
3Gain-
HHLA1-
-
-
-
3Gain-
HID1-
-
-
-
4Gain-
HIF1A-
-
-
-
3Gain-
HIGD1B-
-
-
-
3Gain-
HIGD2B-
-
-
-
3Gain-
HINT2-
-
-
-
1Loss-
HIST2H2AA3-
-
-
-
3Gain-
HIST2H2AA4-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
3Gain-
HIST2H2BE-
-
-
-
3Gain-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
3Gain-
HIST2H3C-
-
-
-
3Gain-
HIST2H3D-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
3Gain-
HIST2H4A-
-
-
-
3Gain-
HIST2H4B-
-
-
-
3Gain-
HIST3H2A-
-
-
-
3Gain-
HIST3H2BB-
-
-
-
3Gain-
HIST3H3-
-
-
-
3Gain-
HJV-
-
-
-
3Gain-
HLA-Cp.R243W
Missense
SNP
0.213
2--
HLF-
-
-
-
4Gain-
HLX-
-
-
-
3Gain-
HM13-
-
-
-
3Gain-
HMBOX1-
-
-
-
1Loss-
HMCN1-
-
-
-
3Gain-
HMG20A-
-
-
-
3Gain-
HMX1-
-
-
-
1Loss-
HNF1B-
-
-
-
6Amp-
HNF4A-
-
-
-
3Gain-
HNF4G-
-
-
-
3Gain-
HNRNPC-
-
-
-
3Gain-
HNRNPU-
-
-
-
3Gain-
HOMER2-
-
-
-
3Gain-
HOMEZ-
-
-
-
3Gain-
HOOK3-
-
-
-
1Loss-
HORMAD1-
-
-
-
3Gain-
HPS4p.H606Y
p.V552M
p.L443V
Missense
Missense
Missense
SNP
SNP
SNP
0.070
0.060
0.061
2--
HR-
-
-
-
1Loss-
HRCT1-
-
-
-
1Loss-
HRH3-
-
-
-
3Gain-
HRNR-
-
-
-
3Gain-
HS3ST1-
-
-
-
1Loss-
HSD11B1-
-
-
-
3Gain-
HSD17B1-
-
-
-
3Gain-
HSD17B7-
-
-
-
3Gain-
HSF1-
-
-
-
3Gain-
HSF5-
-
-
-
4Gain-
HSP90AA1-
-
-
-
3Gain-
HSPA2-
-
-
-
3Gain-
HSPA6-
-
-
-
3Gain-
HSPB9-
-
-
-
3Gain-
HTRA3-
-
-
-
1Loss-
HTRA4-
-
-
-
1Loss-
HTT-
-
-
-
1Loss-
HYKK-
-
-
-
3Gain-
HYPK-
-
-
-
3Gain-
IARS2-
-
-
-
3Gain-
IBA57-
-
-
-
3Gain-
ICAM2-
-
-
-
8Amp-
ICE2-
-
-
-
1Loss-
ID1-
-
-
-
3Gain-
IDH2-
-
-
-
3Gain-
IDH3A-
-
-
-
3Gain-
IDO1-
-
-
-
1Loss-
IDO2-
-
-
-
1Loss-
IDUA-
-
-
-
1Loss-
IER5-
-
-
-
3Gain-
IFI16-
-
-
-
3Gain-
IFI27-
-
-
-
3Gain-
IFI27L1-
-
-
-
3Gain-
IFI27L2-
-
-
-
3Gain-
IFNA1-
-
-
-
1Loss-
IFNA10-
-
-
-
1Loss-
IFNA13-
-
-
-
1Loss-
IFNA14-
-
-
-
1Loss-
IFNA16-
-
-
-
1Loss-
IFNA17-
-
-
-
1Loss-
IFNA2-
-
-
-
1Loss-
IFNA21-
-
-
-
1Loss-
IFNA4-
-
-
-
1Loss-
IFNA5-
-
-
-
1Loss-
IFNA6-
-
-
-
1Loss-
IFNA7-
-
-
-
1Loss-
IFNA8-
-
-
-
1Loss-
IFNB1-
-
-
-
1Loss-
IFNE-
-
-
-
1Loss-
IFNK-
-
-
-
1Loss-
IFNW1-
-
-
-
1Loss-
IFT43-
-
-
-
3Gain-
IFT52-
-
-
-
3Gain-
IFT74-
-
-
-
1Loss-
IGDCC3-
-
-
-
3Gain-
IGDCC4-
-
-
-
3Gain-
IGF1R-
-
-
-
3Gain-
IGFBP4-
-
-
-
6Amp-
IGFBPL1-
-
-
-
1Loss-
IGFN1-
-
-
-
3Gain-
IGHD-
-
-
-
3Gain-
IGHV3-72-
-
-
-
3Gain-
IGSF8-
-
-
-
3Gain-
IGSF9-
-
-
-
3Gain-
IKBKAPp.C1072S
Missense
SNP
0.058
NDND-
IKBKB-
-
-
-
1Loss-
IKBKE-
-
-
-
3Gain-
IKZF3-
-
-
-
6Amp-
IL10-
-
-
-
3Gain-
IL11RA-
-
-
-
1Loss-
IL16-
-
-
-
3Gain-
IL19-
-
-
-
3Gain-
IL20-
-
-
-
3Gain-
IL24-
-
-
-
3Gain-
IL25-
-
-
-
3Gain-
IL33-
-
-
-
1Loss-
IL6R-
-
-
-
3Gain-
IL7-
-
-
-
3Gain-
ILDR2-
-
-
-
3Gain-
ILF2-
-
-
-
3Gain-
IMP3-
-
-
-
3Gain-
IMPA1-
-
-
-
3Gain-
IMPAD1-
-
-
-
1Loss-
INAFM1p.R79L
Missense
SNP
0.056
2--
INAVA-
-
-
-
3Gain-
INF2-
-
-
-
3Gain-
INO80-
-
-
-
3Gain-
INSL4-
-
-
-
1Loss-
INSL6-
-
-
-
1Loss-
INSM2-
-
-
-
3Gain-
INSRR-
-
-
-
3Gain-
INSYN1-
-
-
-
3Gain-
INTS10-
-
-
-
1Loss-
INTS14-
-
-
-
3Gain-
INTS2-
-
-
-
8Amp-
INTS3-
-
-
-
3Gain-
INTS7-
-
-
-
3Gain-
INTS8-
-
-
-
3Gain-
INTS9-
-
-
-
1Loss-
IPO4-
-
-
-
3Gain-
IPO9-
-
-
-
3Gain-
IQANK1-
-
-
-
3Gain-
IQCH-
-
-
-
3Gain-
IQGAP1-
-
-
-
3Gain-
IQGAP3-
-
-
-
3Gain-
IREB2-
-
-
-
3Gain-
IRF2BP2-
-
-
-
3Gain-
IRF2BPL-
-
-
-
3Gain-
IRF6-
-
-
-
3Gain-
IRF9-
-
-
-
3Gain-
ISCA2-
-
-
-
3Gain-
ISG20-
-
-
-
3Gain-
ISG20L2-
-
-
-
3Gain-
ISL2-
-
-
-
3Gain-
ISLR-
-
-
-
3Gain-
ISLR2-
-
-
-
3Gain-
ISM2-
-
-
-
3Gain-
ITCH-
-
-
-
3Gain-
ITGA10-
-
-
-
3Gain-
ITGA11-
-
-
-
3Gain-
ITGA3-
-
-
-
4Gain-
ITGB4-
-
-
-
4Gain-
ITLN1-
-
-
-
3Gain-
ITLN2-
-
-
-
3Gain-
ITPK1-
-
-
-
3Gain-
ITPKA-
-
-
-
3Gain-
ITPKB-
-
-
-
3Gain-
IVD-
-
-
-
3Gain-
IVL-
-
-
-
3Gain-
IVNS1ABP-
-
-
-
3Gain-
IZUMO3-
-
-
-
1Loss-
JAG2-
-
-
-
3Gain-
JAK2-
-
-
-
1Loss-
JAKMIP1-
-
-
-
1Loss-
JDP2-
-
-
-
3Gain-
JKAMP-
-
-
-
3Gain-
JMJD4-
-
-
-
3Gain-
JMJD6-
-
-
-
4Gain-
JMJD7-
-
-
-
3Gain-
JMJD7-PLA2G4B-
-
-
-
3Gain-
JPH1-
-
-
-
3Gain-
JPH2-
-
-
-
3Gain-
JPH4-
-
-
-
3Gain-
JPT1-
-
-
-
4Gain-
JRK-
-
-
-
3Gain-
JTB-
-
-
-
3Gain-
JUP-
-
-
-
3Gain-
KANK1-
-
-
-
1Loss-
KANK4p.H171R
Missense
SNP
0.075
2--
KANSL1-
-
-
-
4Gain-
KAT2A-
-
-
-
3Gain-
KAT6A-
-
-
-
1Loss-
KAT8p.I454M
Missense
SNP
0.083
2--
KATNBL1-
-
-
-
3Gain-
KBTBD11-
-
-
-
1Loss-
KBTBD11-OT1-
-
-
-
1Loss-
KBTBD13-
-
-
-
3Gain-
KCNB1-
-
-
-
3Gain-
KCNB2-
-
-
-
3Gain-
KCNG1-
-
-
-
3Gain-
KCNH1-
-
-
-
3Gain-
KCNH4-
-
-
-
3Gain-
KCNH5-
-
-
-
3Gain-
KCNH6-
-
-
-
8Amp-
KCNIP4-
-
-
-
1Loss-
KCNJ10-
-
-
-
3Gain-
KCNJ16-
-
-
-
4Gain-
KCNJ2-
-
-
-
4Gain-
KCNJ9-
-
-
-
3Gain-
KCNK1-
-
-
-
3Gain-
KCNK10-
-
-
-
3Gain-
KCNK13-
-
-
-
3Gain-
KCNK15-
-
-
-
3Gain-
KCNK2-
-
-
-
3Gain-
KCNK9-
-
-
-
3Gain-
KCNN3-
-
-
-
3Gain-
KCNQ2-
-
-
-
3Gain-
KCNQ3-
-
-
-
3Gain-
KCNS1-
-
-
-
3Gain-
KCNS2-
-
-
-
3Gain-
KCNT2-
-
-
-
3Gain-
KCNU1-
-
-
-
1Loss-
KCNV1-
-
-
-
3Gain-
KCNV2-
-
-
-
1Loss-
KCTD2-
-
-
-
4Gain-
KCTD3-
-
-
-
3Gain-
KCTD9-
-
-
-
1Loss-
KDM4C-
-
-
-
1Loss-
KDM5B-
-
-
-
3Gain-
KHDC4-
-
-
-
3Gain-
KHDRBS3-
-
-
-
3Gain-
KHNYN-
-
-
-
3Gain-
KIAA0232-
-
-
-
1Loss-
KIAA0391-
-
-
-
3Gain-
KIAA0586-
-
-
-
3Gain-
KIAA1024-
-
-
-
3Gain-
KIAA1462p.R957G
Missense
SNP
0.086
NDND-
KIAA1551p.L250P
Missense
SNP
0.072
2--
KIAA1614-
-
-
-
3Gain-
KIAA1755-
-
-
-
3Gain-
KIAA2026-
-
-
-
1Loss-
KIF13B-
-
-
-
1Loss-
KIF14-
-
-
-
3Gain-
KIF18B-
-
-
-
3Gain-
KIF19-
-
-
-
4Gain-
KIF21B-
-
-
-
3Gain-
KIF23-
-
-
-
3Gain-
KIF24-
-
-
-
1Loss-
KIF26A-
-
-
-
3Gain-
KIF26B-
-
-
-
3Gain-
KIF2B-
-
-
-
4Gain-
KIF3B-
-
-
-
3Gain-
KIF7-
-
-
-
3Gain-
KIFAP3-
-
-
-
3Gain-
KIFC2-
-
-
-
3Gain-
KIRREL1-
-
-
-
3Gain-
KISS1-
-
-
-
3Gain-
KLB-
-
-
-
1Loss-
KLC1-
-
-
-
3Gain-
KLF10-
-
-
-
3Gain-
KLF13-
-
-
-
3Gain-
KLF2p.L104P
Missense
SNP
0.113
2--
KLF3-
-
-
-
1Loss-
KLHDC1-
-
-
-
3Gain-
KLHDC2-
-
-
-
3Gain-
KLHDC8A-
-
-
-
3Gain-
KLHDC9-
-
-
-
3Gain-
KLHL10-
-
-
-
3Gain-
KLHL11-
-
-
-
3Gain-
KLHL12-
-
-
-
3Gain-
KLHL20-
-
-
-
3Gain-
KLHL25-
-
-
-
3Gain-
KLHL28-
-
-
-
3Gain-
KLHL33-
-
-
-
3Gain-
KLHL38-
-
-
-
3Gain-
KLHL5-
-
-
-
1Loss-
KLHL9-
-
-
-
1Loss-
KMO-
-
-
-
3Gain-
KNL1-
-
-
-
3Gain-
KNSTRN-
-
-
-
3Gain-
KPNA2-
-
-
-
4Gain-
KPRP-
-
-
-
3Gain-
KRT10-
-
-
-
6Amp-
KRT12-
-
-
-
6Amp-
KRT20-
-
-
-
6Amp-
KRT222-
-
-
-
6Amp-
KRT24-
-
-
-
6Amp-
KRT25-
-
-
-
6Amp-
KRT26-
-
-
-
6Amp-
KRT27-
-
-
-
6Amp-
KRT28-
-
-
-
6Amp-
KRTCAP2-
-
-
-
3Gain-
KTN1-
-
-
-
3Gain-
L2HGDH-
-
-
-
3Gain-
L3HYPDH-
-
-
-
3Gain-
L3MBTL1-
-
-
-
3Gain-
LACTB-
-
-
-
3Gain-
LACTB2-
-
-
-
3Gain-
LAD1-
-
-
-
3Gain-
LAMA5-
-
-
-
3Gain-
LAMB3-
-
-
-
3Gain-
LAMC1-
-
-
-
3Gain-
LAMC2-
-
-
-
3Gain-
LAMTOR2-
-
-
-
3Gain-
LAP3-
-
-
-
1Loss-
LAPTM4B-
-
-
-
3Gain-
LARP6-
-
-
-
3Gain-
LASP1-
-
-
-
6Amp-
LAX1-
-
-
-
3Gain-
LBP-
-
-
-
3Gain-
LBR-
-
-
-
3Gain-
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1C-
-
-
-
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3C-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LCMT2-
-
-
-
3Gain-
LCORL-
-
-
-
1Loss-
LCTL-
-
-
-
3Gain-
LDB2-
-
-
-
1Loss-
LDHAL6B-
-
-
-
1Loss-
LEFTY1-
-
-
-
3Gain-
LEFTY2-
-
-
-
3Gain-
LELP1-
-
-
-
3Gain-
LEMD1-
-
-
-
3Gain-
LENEP-
-
-
-
3Gain-
LEO1-
-
-
-
3Gain-
LEPROTL1-
-
-
-
1Loss-
LETM1-
-
-
-
1Loss-
LETM2-
-
-
-
1Loss-
LGALS3-
-
-
-
3Gain-
LGALS3BP-
-
-
-
4Gain-
LGALS8-
-
-
-
3Gain-
LGI2-
-
-
-
1Loss-
LGI3-
-
-
-
1Loss-
LGMN-
-
-
-
3Gain-
LGR6-
-
-
-
3Gain-
LHX4-
-
-
-
3Gain-
LHX9-
-
-
-
3Gain-
LIAS-
-
-
-
1Loss-
LIG3-
-
-
-
6Amp-
LIMCH1-
-
-
-
3Gain-
LIMD2-
-
-
-
8Amp-
LIME1-
-
-
-
3Gain-
LIN52-
-
-
-
3Gain-
LIN9-
-
-
-
3Gain-
LINC02203-
-
-
-
3Gain-
LINC02210-CRHR1-
-
-
-
4Gain-
LINGO1-
-
-
-
3Gain-
LINGO2-
-
-
-
1Loss-
LINGO4-
-
-
-
3Gain-
LINS1-
-
-
-
3Gain-
LIPC-
-
-
-
1Loss-
LIX1L-
-
-
-
3Gain-
LKAAEAR1-
-
-
-
3Gain-
LLGL2-
-
-
-
4Gain-
LMAN1L-
-
-
-
3Gain-
LMLN2-
-
-
-
3Gain-
LMNA-
-
-
-
3Gain-
LMOD1-
-
-
-
3Gain-
LMX1A-
-
-
-
3Gain-
LONRF1-
-
-
-
1Loss-
LOR-
-
-
-
3Gain-
LOXL1-
-
-
-
3Gain-
LOXL2-
-
-
-
1Loss-
LPCAT4-
-
-
-
3Gain-
LPGAT1-
-
-
-
3Gain-
LPIN1p.R38Q
Missense
SNP
0.095
2--
LPIN3-
-
-
-
3Gain-
LPL-
-
-
-
1Loss-
LPO-
-
-
-
4Gain-
LRFN5-
-
-
-
3Gain-
LRMPp.C197S
Missense
SNP
0.103
2--
LRP10-
-
-
-
3Gain-
LRP12-
-
-
-
3Gain-
LRPAP1-
-
-
-
1Loss-
LRR1-
-
-
-
3Gain-
LRRC14-
-
-
-
3Gain-
LRRC19-
-
-
-
1Loss-
LRRC24-
-
-
-
3Gain-
LRRC28-
-
-
-
3Gain-
LRRC37A3-
-
-
-
4Gain-
LRRC3C-
-
-
-
6Amp-
LRRC45-
-
-
-
4Gain-
LRRC49-
-
-
-
3Gain-
LRRC52-
-
-
-
3Gain-
LRRC57-
-
-
-
3Gain-
LRRC59-
-
-
-
4Gain-
LRRC6-
-
-
-
3Gain-
LRRC69-
-
-
-
3Gain-
LRRC71-
-
-
-
3Gain-
LRRC74A-
-
-
-
3Gain-
LRRC9-
-
-
-
3Gain-
LRRCC1-
-
-
-
3Gain-
LRRK1-
-
-
-
3Gain-
LRRN2-
-
-
-
3Gain-
LSM1-
-
-
-
1Loss-
LSM14B-
-
-
-
3Gain-
LTB4R-
-
-
-
3Gain-
LTB4R2-
-
-
-
3Gain-
LTBP2-
-
-
-
3Gain-
LTK-
-
-
-
3Gain-
LUC7L3-
-
-
-
4Gain-
LURAP1L-
-
-
-
1Loss-
LY6D-
-
-
-
3Gain-
LY6E-
-
-
-
3Gain-
LY6H-
-
-
-
3Gain-
LY6K-
-
-
-
3Gain-
LY6L-
-
-
-
3Gain-
LY9-
-
-
-
3Gain-
LY96-
-
-
-
3Gain-
LYAR-
-
-
-
1Loss-
LYN-
-
-
-
1Loss-
LYNX1-
-
-
-
3Gain-
LYNX1-SLURP2-
-
-
-
3Gain-
LYPD2-
-
-
-
3Gain-
LYPD8-
-
-
-
3Gain-
LYPLA1-
-
-
-
1Loss-
LYPLAL1-
-
-
-
3Gain-
LYSMD1-
-
-
-
3Gain-
LYSMD2-
-
-
-
3Gain-
LYSMD4-
-
-
-
3Gain-
LYST-
-
-
-
3Gain-
LYZL6-
-
-
-
6Amp-
LZTS1-
-
-
-
1Loss-
MAEA-
-
-
-
1Loss-
MAEL-
-
-
-
3Gain-
MAF1-
-
-
-
3Gain-
MAFA-
-
-
-
3Gain-
MAFB-
-
-
-
3Gain-
MAFG-
-
-
-
4Gain-
MAGEC1p.S241F
Missense
SNP
0.281
NDND-
MAGEL2-
-
-
-
3Gain-
MAK16-
-
-
-
1Loss-
MAL2-
-
-
-
3Gain-
MAN2A2-
-
-
-
3Gain-
MAN2B2-
-
-
-
1Loss-
MAN2C1-
-
-
-
3Gain-
MANBAL-
-
-
-
3Gain-
MAP10-
-
-
-
3Gain-
MAP1A-
-
-
-
3Gain-
MAP1LC3A-
-
-
-
3Gain-
MAP1LC3C-
-
-
-
3Gain-
MAP2K1-
-
-
-
3Gain-
MAP2K5-
-
-
-
3Gain-
MAP2K6-
-
-
-
4Gain-
MAP3K21-
-
-
-
3Gain-
MAP3K3-
-
-
-
8Amp-
MAP3K9-
-
-
-
3Gain-
MAP4K5-
-
-
-
3Gain-
MAPK15-
-
-
-
3Gain-
MAPK1IP1L-
-
-
-
3Gain-
MAPK6-
-
-
-
3Gain-
MAPKAPK2-
-
-
-
3Gain-
MAPKBP1-
-
-
-
3Gain-
MAPRE1-
-
-
-
3Gain-
MAPT-
-
-
-
4Gain-
MARC1-
-
-
-
3Gain-
MARC2-
-
-
-
3Gain-
MARCH10-
-
-
-
8Amp-
MARK1-
-
-
-
3Gain-
MARK3-
-
-
-
3Gain-
MATN2-
-
-
-
3Gain-
MATN4-
-
-
-
3Gain-
MAX-
-
-
-
3Gain-
MBIP-
-
-
-
3Gain-
MBOAT4-
-
-
-
1Loss-
MBTD1-
-
-
-
4Gain-
MC3R-
-
-
-
3Gain-
MCL1-
-
-
-
3Gain-
MCM4-
-
-
-
1Loss-
MCMDC2-
-
-
-
1Loss-
MCPH1-
-
-
-
1Loss-
MCRIP1-
-
-
-
4Gain-
MCTP2-
-
-
-
3Gain-
MDGA2-
-
-
-
3Gain-
MDM4-
-
-
-
3Gain-
MDP1-
-
-
-
3Gain-
MED1-
-
-
-
6Amp-
MED13-
-
-
-
8Amp-
MED24-
-
-
-
6Amp-
MED28-
-
-
-
1Loss-
MED30-
-
-
-
3Gain-
MED6-
-
-
-
3Gain-
MEF2A-
-
-
-
3Gain-
MEF2D-
-
-
-
3Gain-
MEGF11-
-
-
-
3Gain-
MEIS2-
-
-
-
3Gain-
MELK-
-
-
-
1Loss-
MEP1Ap.M634V
Missense
SNP
0.097
2--
MESD-
-
-
-
3Gain-
MESP1-
-
-
-
3Gain-
MESP2-
-
-
-
3Gain-
METRNL-
-
-
-
4Gain-
METTL11B-
-
-
-
3Gain-
METTL13-
-
-
-
3Gain-
METTL17-
-
-
-
3Gain-
METTL18-
-
-
-
3Gain-
METTL23-
-
-
-
4Gain-
METTL2A-
-
-
-
8Amp-
METTL3-
-
-
-
3Gain-
MEX3A-
-
-
-
3Gain-
MEX3B-
-
-
-
3Gain-
MFAP1-
-
-
-
3Gain-
MFGE8-
-
-
-
3Gain-
MFHAS1-
-
-
-
1Loss-
MFSD10-
-
-
-
1Loss-
MFSD11-
-
-
-
4Gain-
MFSD3-
-
-
-
3Gain-
MFSD4A-
-
-
-
3Gain-
MGA-
-
-
-
3Gain-
MGAT1p.R223Q
Missense
SNP
0.051
2--
MGAT2-
-
-
-
3Gain-
MGAT5B-
-
-
-
4Gain-
MGST3-
-
-
-
3Gain-
MIA2-
-
-
-
3Gain-
MIA3-
-
-
-
3Gain-
MICU3-
-
-
-
1Loss-
MIEN1-
-
-
-
6Amp-
MIF4GD-
-
-
-
4Gain-
MILR1-
-
-
-
4Gain-
MINDY1-
-
-
-
3Gain-
MINDY2-
-
-
-
1Loss-
MIPOL1-
-
-
-
3Gain-
MIS18BP1-
-
-
-
3Gain-
MIXL1-
-
-
-
3Gain-
MKRN3-
-
-
-
3Gain-
MKS1-
-
-
-
4Gain-
MLANA-
-
-
-
1Loss-
MLH3-
-
-
-
3Gain-
MLLT11-
-
-
-
3Gain-
MLLT3-
-
-
-
1Loss-
MLLT6-
-
-
-
6Amp-
MLX-
-
-
-
3Gain-
MMD-
-
-
-
4Gain-
MMP14-
-
-
-
3Gain-
MMP16-
-
-
-
3Gain-
MMP17p.R279H
Missense
SNP
0.062
2--
MMP24-
-
-
-
3Gain-
MMP28-
-
-
-
6Amp-
MMP9-
-
-
-
3Gain-
MNAT1-
-
-
-
3Gain-
MNDA-
-
-
-
3Gain-
MNS1-
-
-
-
1Loss-
MOAP1-
-
-
-
3Gain-
MOB3B-
-
-
-
1Loss-
MOCS3-
-
-
-
3Gain-
MOK-
-
-
-
3Gain-
MORF4L1-
-
-
-
3Gain-
MOS-
-
-
-
1Loss-
MPC2-
-
-
-
3Gain-
MPDZ-
-
-
-
1Loss-
MPI-
-
-
-
3Gain-
MPO-
-
-
-
4Gain-
MPP5-
-
-
-
3Gain-
MPZ-
-
-
-
3Gain-
MPZL1-
-
-
-
3Gain-
MR1-
-
-
-
3Gain-
MRC2-
-
-
-
8Amp-
MRFAP1-
-
-
-
1Loss-
MRFAP1L1-
-
-
-
1Loss-
MRGBP-
-
-
-
3Gain-
MROH1-
-
-
-
3Gain-
MROH5p.R1082Q
Missense
SNP
0.097
3Gain-
MROH6-
-
-
-
3Gain-
MROH8-
-
-
-
3Gain-
MROH9-
-
-
-
3Gain-
MRPL12-
-
-
-
4Gain-
MRPL13-
-
-
-
3Gain-
MRPL15-
-
-
-
1Loss-
MRPL24-
-
-
-
3Gain-
MRPL27-
-
-
-
4Gain-
MRPL38-
-
-
-
4Gain-
MRPL45-
-
-
-
6Amp-
MRPL46-
-
-
-
3Gain-
MRPL52-
-
-
-
3Gain-
MRPL55-
-
-
-
3Gain-
MRPL58-
-
-
-
4Gain-
MRPL9-
-
-
-
3Gain-
MRPS11-
-
-
-
3Gain-
MRPS14-
-
-
-
3Gain-
MRPS21-
-
-
-
3Gain-
MRPS23-
-
-
-
4Gain-
MRPS28-
-
-
-
3Gain-
MRPS7-
-
-
-
4Gain-
MSANTD1-
-
-
-
1Loss-
MSC-
-
-
-
3Gain-
MSI2-
-
-
-
4Gain-
MSL1-
-
-
-
6Amp-
MSMP-
-
-
-
1Loss-
MSR1-
-
-
-
1Loss-
MSRA-
-
-
-
1Loss-
MSTO1-
-
-
-
3Gain-
MSX1-
-
-
-
1Loss-
MTA1-
-
-
-
3Gain-
MTAP-
-
-
-
1Loss-
MTBP-
-
-
-
3Gain-
MTDH-
-
-
-
3Gain-
MTERF3-
-
-
-
3Gain-
MTFMT-
-
-
-
3Gain-
MTFR1-
-
-
-
1Loss-
MTG2-
-
-
-
3Gain-
MTHFD1-
-
-
-
3Gain-
MTHFS-
-
-
-
3Gain-
MTMR10-
-
-
-
3Gain-
MTMR11-
-
-
-
3Gain-
MTMR4-
-
-
-
4Gain-
MTMR7-
-
-
-
1Loss-
MTMR9-
-
-
-
1Loss-
MTR-
-
-
-
3Gain-
MTRNR2L3-
-
-
-
NDNDSCARNA2--MTRNR2L3
MTSS1-
-
-
-
3Gain-
MTUS1-
-
-
-
1Loss-
MTX1-
-
-
-
3Gain-
MUC1-
-
-
-
3Gain-
MUC4p.I3003T
Missense
SNP
0.468
2--
MXD4-
-
-
-
1Loss-
MXRA7-
-
-
-
4Gain-
MYADML2-
-
-
-
4Gain-
MYBL1-
-
-
-
1Loss-
MYBL2-
-
-
-
3Gain-
MYBPC2p.T171M
Missense
SNP
0.053
2--
MYBPH-
-
-
-
3Gain-
MYC-
-
-
-
3Gain-
MYCBPAP-
-
-
-
4Gain-
MYEF2-
-
-
-
3Gain-
MYH6-
-
-
-
3Gain-
MYH7-
-
-
-
3Gain-
MYH7B-
-
-
-
3Gain-
MYL5-
-
-
-
1Loss-
MYL9-
-
-
-
3Gain-
MYLK2-
-
-
-
3Gain-
MYO10p.S1663T
Missense
SNP
0.066
2--
MYO15B-
-
-
-
4Gain-
MYO1E-
-
-
-
1Loss-
MYO5A-
-
-
-
3Gain-
MYO5C-
-
-
-
3Gain-
MYO9A-
-
-
-
3Gain-
MYOC-
-
-
-
3Gain-
MYOCOS-
-
-
-
3Gain-
MYOG-
-
-
-
3Gain-
MYOM2-
-
-
-
1Loss-
MYORG-
-
-
-
1Loss-
MYT1-
-
-
-
3Gain-
MYZAP-
-
-
-
1Loss-
N4BP2-
-
-
-
1Loss-
NAA30-
-
-
-
3Gain-
NACA2-
-
-
-
8Amp-
NAGLU-
-
-
-
3Gain-
NANOGP8-
-
-
-
3Gain-
NAPRT-
-
-
-
3Gain-
NARF-
-
-
-
4Gain-
NAT1-
-
-
-
1Loss-
NAT2p.R197Q
p.R268K
Missense
Missense
SNP
SNP
0.095
0.097
1Loss-
NAT8L-
-
-
-
1Loss-
NAT9-
-
-
-
4Gain-
NAV1-
-
-
-
3Gain-
NAXE-
-
-
-
3Gain-
NBASp.K655R
p.I243V
Missense
Missense
SNP
SNP
0.069
0.074
2--
NBN-
-
-
-
3Gain-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
3Gain-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
3Gain-
NBPF9-
-
-
-
3Gain-
NCALD-
-
-
-
3Gain-
NCAPG-
-
-
-
1Loss-
NCF2-
-
-
-
3Gain-
NCOA2-
-
-
-
3Gain-
NCOA3-
-
-
-
3Gain-
NCOA5-
-
-
-
3Gain-
NCOA6-
-
-
-
3Gain-
NCSTN-
-
-
-
3Gain-
NDN-
-
-
-
3Gain-
NDRG1-
-
-
-
3Gain-
NDRG2-
-
-
-
3Gain-
NDRG3-
-
-
-
3Gain-
NDUFAF1-
-
-
-
3Gain-
NDUFAF6-
-
-
-
3Gain-
NDUFAF8-
-
-
-
4Gain-
NDUFB1-
-
-
-
3Gain-
NDUFB6-
-
-
-
1Loss-
NDUFB9-
-
-
-
3Gain-
NDUFS2-
-
-
-
3Gain-
NECAB1-
-
-
-
3Gain-
NECAB3-
-
-
-
3Gain-
NECTIN4-
-
-
-
3Gain-
NEDD4-
-
-
-
3Gain-
NEDD8-
-
-
-
3Gain-
NEDD8-MDP1-
-
-
-
3Gain-
NEFL-
-
-
-
1Loss-
NEFM-
-
-
-
1Loss-
NEIL1-
-
-
-
3Gain-
NEIL2-
-
-
-
1Loss-
NEK2-
-
-
-
3Gain-
NEK7-
-
-
-
3Gain-
NEK9-
-
-
-
3Gain-
NELFA-
-
-
-
1Loss-
NELFCD-
-
-
-
3Gain-
NEMF-
-
-
-
3Gain-
NENF-
-
-
-
3Gain-
NEO1-
-
-
-
3Gain-
NES-
-
-
-
3Gain-
NEURL2-
-
-
-
3Gain-
NEUROD2-
-
-
-
6Amp-
NFASC-
-
-
-
3Gain-
NFATC2-
-
-
-
3Gain-
NFATC4-
-
-
-
3Gain-
NFIB-
-
-
-
1Loss-
NFKBIA-
-
-
-
3Gain-
NFS1-
-
-
-
3Gain-
NFX1-
-
-
-
1Loss-
NFXL1-
-
-
-
1Loss-
NGB-
-
-
-
3Gain-
NGDN-
-
-
-
3Gain-
NGRN-
-
-
-
3Gain-
NHLH1-
-
-
-
3Gain-
NID1-
-
-
-
3Gain-
NID2-
-
-
-
3Gain-
NIN-
-
-
-
3Gain-
NIPA1-
-
-
-
3Gain-
NIPA2-
-
-
-
3Gain-
NIPAL1-
-
-
-
1Loss-
NIPAL2-
-
-
-
3Gain-
NIT1-
-
-
-
3Gain-
NKAIN3-
-
-
-
1Loss-
NKAIN4-
-
-
-
3Gain-
NKIRAS2-
-
-
-
3Gain-
NKX1-1-
-
-
-
1Loss-
NKX2-1-
-
-
-
3Gain-
NKX2-6-
-
-
-
1Loss-
NKX2-8-
-
-
-
3Gain-
NKX3-1-
-
-
-
1Loss-
NKX3-2-
-
-
-
1Loss-
NKX6-3-
-
-
-
1Loss-
NLE1-
-
-
-
6Amp-
NLGN4Xp.R765H
Missense
SNP
0.231
NDND-
NLRP3-
-
-
-
3Gain-
NMB-
-
-
-
3Gain-
NME1-
-
-
-
4Gain-
NME1-NME2-
-
-
-
4Gain-
NME7-
-
-
-
3Gain-
NMNAT2-
-
-
-
3Gain-
NMT1-
-
-
-
3Gain-
NNAT-
-
-
-
3Gain-
NOG-
-
-
-
4Gain-
NOL11-
-
-
-
4Gain-
NOL4L-
-
-
-
3Gain-
NOL6-
-
-
-
1Loss-
NOP10-
-
-
-
3Gain-
NOP14-
-
-
-
1Loss-
NOP9-
-
-
-
3Gain-
NOS1AP-
-
-
-
3Gain-
NOTCH2NLA-
-
-
-
3Gain-
NOTUM-
-
-
-
4Gain-
NOV-
-
-
-
3Gain-
NOVA1-
-
-
-
3Gain-
NOX5-
-
-
-
3Gain-
NOXRED1-
-
-
-
3Gain-
NPAP1-
-
-
-
3Gain-
NPAS3-
-
-
-
3Gain-
NPB-
-
-
-
4Gain-
NPBWR1-
-
-
-
1Loss-
NPBWR2-
-
-
-
3Gain-
NPC2-
-
-
-
3Gain-
NPEPL1-
-
-
-
3Gain-
NPHS2-
-
-
-
3Gain-
NPL-
-
-
-
3Gain-
NPLOC4-
-
-
-
4Gain-
NPM2-
-
-
-
1Loss-
NPR1-
-
-
-
3Gain-
NPR2-
-
-
-
1Loss-
NPTN-
-
-
-
3Gain-
NPTX1-
-
-
-
4Gain-
NPY4R-
-
-
-
3Gain-
NR1D1-
-
-
-
6Amp-
NR1I3-
-
-
-
3Gain-
NR2E3-
-
-
-
3Gain-
NR2F2-
-
-
-
3Gain-
NR5A2-
-
-
-
3Gain-
NRBP2-
-
-
-
3Gain-
NRCAMp.P545A
Missense
SNP
0.065
2--
NRDE2-
-
-
-
3Gain-
NRG1-
-
-
-
1Loss-
NRG4-
-
-
-
3Gain-
NRL-
-
-
-
3Gain-
NRXN3-
-
-
-
3Gain-
NSD2-
-
-
-
1Loss-
NSD3-
-
-
-
1Loss-
NSF-
-
-
-
1Loss-
NSG1-
-
-
-
1Loss-
NSL1-
-
-
-
3Gain-
NSMAF-
-
-
-
1Loss-
NSMCE2-
-
-
-
3Gain-
NSMCE3-
-
-
-
3Gain-
NSUN7-
-
-
-
1Loss-
NT5C-
-
-
-
4Gain-
NT5C3B-
-
-
-
3Gain-
NTPCR-
-
-
-
3Gain-
NTRK1-
-
-
-
3Gain-
NTRK3-
-
-
-
3Gain-
NTSR1-
-
-
-
3Gain-
NUAK2-
-
-
-
3Gain-
NUBPL-
-
-
-
3Gain-
NUCKS1-
-
-
-
3Gain-
NUDCD1-
-
-
-
3Gain-
NUDT14-
-
-
-
3Gain-
NUDT17-
-
-
-
3Gain-
NUDT18-
-
-
-
1Loss-
NUDT2-
-
-
-
1Loss-
NUDT4B-
-
-
-
3Gain-
NUF2-
-
-
-
3Gain-
NUGGC-
-
-
-
1Loss-
NUMB-
-
-
-
3Gain-
NUP133-
-
-
-
3Gain-
NUP210Lp.V1491I
Missense
SNP
0.059
3Gain-
NUP85-
-
-
-
4Gain-
NUSAP1-
-
-
-
3Gain-
NUTM1-
-
-
-
3Gain-
NVL-
-
-
-
3Gain-
NWD1p.C15F
Missense
SNP
0.093
2--
NWD2-
-
-
-
1Loss-
NYNRIN-
-
-
-
3Gain-
OAZ2-
-
-
-
3Gain-
OAZ3-
-
-
-
3Gain-
OBSCN-
-
-
-
3Gain-
OC90-
-
-
-
3Gain-
OCA2-
-
-
-
3Gain-
OCIAD1-
-
-
-
1Loss-
OCIAD2-
-
-
-
1Loss-
OCLM-
-
-
-
3Gain-
OCSTAMP-
-
-
-
3Gain-
ODF1-
-
-
-
3Gain-
ODF3L1-
-
-
-
3Gain-
ODR4-
-
-
-
3Gain-
OGFOD3-
-
-
-
4Gain-
OGFR-
-
-
-
3Gain-
OIP5-
-
-
-
3Gain-
OLFML2B-
-
-
-
3Gain-
ONECUT1-
-
-
-
3Gain-
OPLAH-
-
-
-
3Gain-
OPN3-
-
-
-
3Gain-
OPN4p.T405I
Missense
SNP
0.094
2--
OPRK1-
-
-
-
1Loss-
OPRL1-
-
-
-
3Gain-
OPTC-
-
-
-
3Gain-
OR10G2-
-
-
-
3Gain-
OR10G3-
-
-
-
3Gain-
OR10J1-
-
-
-
3Gain-
OR10J3-
-
-
-
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10R2-
-
-
-
3Gain-
OR10T2-
-
-
-
3Gain-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR11G2-
-
-
-
3Gain-
OR11H4-
-
-
-
3Gain-
OR11H6-
-
-
-
3Gain-
OR11L1-
-
-
-
3Gain-
OR13G1-
-
-
-
3Gain-
OR13J1-
-
-
-
1Loss-
OR14A16-
-
-
-
3Gain-
OR14A2-
-
-
-
3Gain-
OR14C36-
-
-
-
3Gain-
OR14I1-
-
-
-
3Gain-
OR14K1-
-
-
-
3Gain-
OR1C1-
-
-
-
3Gain-
OR2AJ1-
-
-
-
3Gain-
OR2AK2-
-
-
-
3Gain-
OR2B11-
-
-
-
3Gain-
OR2C3-
-
-
-
3Gain-
OR2G2-
-
-
-
3Gain-
OR2G3-
-
-
-
3Gain-
OR2G6-
-
-
-
3Gain-
OR2L13-
-
-
-
3Gain-
OR2L2-
-
-
-
3Gain-
OR2L3-
-
-
-
3Gain-
OR2L5-
-
-
-
3Gain-
OR2L8-
-
-
-
3Gain-
OR2M2-
-
-
-
3Gain-
OR2M3-
-
-
-
3Gain-
OR2M4-
-
-
-
3Gain-
OR2M5-
-
-
-
3Gain-
OR2M7-
-
-
-
3Gain-
OR2S2-
-
-
-
1Loss-
OR2T1-
-
-
-
3Gain-
OR2T10-
-
-
-
3Gain-
OR2T11-
-
-
-
3Gain-
OR2T12-
-
-
-
3Gain-
OR2T2-
-
-
-
3Gain-
OR2T27-
-
-
-
3Gain-
OR2T29-
-
-
-
3Gain-
OR2T3-
-
-
-
3Gain-
OR2T33-
-
-
-
3Gain-
OR2T34-
-
-
-
3Gain-
OR2T35-
-
-
-
3Gain-
OR2T4-
-
-
-
3Gain-
OR2T5-
-
-
-
3Gain-
OR2T6-
-
-
-
3Gain-
OR2T8-
-
-
-
3Gain-
OR2W3-
-
-
-
3Gain-
OR4D1-
-
-
-
4Gain-
OR4D2-
-
-
-
4Gain-
OR4E2-
-
-
-
3Gain-
OR4F15-
-
-
-
3Gain-
OR4F4-
-
-
-
3Gain-
OR4F6-
-
-
-
3Gain-
OR4K1-
-
-
-
3Gain-
OR4K13-
-
-
-
3Gain-
OR4K14-
-
-
-
3Gain-
OR4K15-
-
-
-
3Gain-
OR4K17-
-
-
-
3Gain-
OR4K2-
-
-
-
3Gain-
OR4K5-
-
-
-
3Gain-
OR4L1-
-
-
-
3Gain-
OR4M2-
-
-
-
3Gain-
OR4N2-
-
-
-
3Gain-
OR4N4-
-
-
-
3Gain-
OR4N5-
-
-
-
3Gain-
OR4Q2-
-
-
-
3Gain-
OR5AU1-
-
-
-
3Gain-
OR5W2p.H65R
Missense
SNP
0.055
2--
OR6F1-
-
-
-
3Gain-
OR6J1-
-
-
-
3Gain-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1-
-
-
-
3Gain-
OR6S1-
-
-
-
3Gain-
OR6Y1-
-
-
-
3Gain-
OR7G2p.F302V
Missense
SNP
0.052
2--
ORMDL3-
-
-
-
6Amp-
OSBPL2-
-
-
-
3Gain-
OSER1-
-
-
-
3Gain-
OSGEP-
-
-
-
3Gain-
OSGIN2-
-
-
-
3Gain-
OSR2-
-
-
-
3Gain-
OTOP1-
-
-
-
1Loss-
OTOP2-
-
-
-
4Gain-
OTOP3-
-
-
-
4Gain-
OTUB2-
-
-
-
3Gain-
OTUD6B-
-
-
-
3Gain-
OTUD7A-
-
-
-
3Gain-
OTUD7B-
-
-
-
3Gain-
OTX2-
-
-
-
3Gain-
OXA1Lp.V151I
Missense
SNP
0.054
3Gain-
OXLD1-
-
-
-
4Gain-
OXR1-
-
-
-
3Gain-
P2RX3p.A71T
Missense
SNP
0.076
2--
P3H4-
-
-
-
3Gain-
P4HB-
-
-
-
4Gain-
PABPC1-
-
-
-
3Gain-
PABPC1L-
-
-
-
3Gain-
PABPN1-
-
-
-
3Gain-
PACRGL-
-
-
-
1Loss-
PACS2-
-
-
-
3Gain-
PAG1-
-
-
-
3Gain-
PAK6-
-
-
-
3Gain-
PAPLN-
-
-
-
3Gain-
PAPOLA-
-
-
-
3Gain-
PAPPA2-
-
-
-
3Gain-
PAQR5-
-
-
-
3Gain-
PAQR6-
-
-
-
3Gain-
PARD6B-
-
-
-
3Gain-
PARP1-
-
-
-
3Gain-
PARP10-
-
-
-
3Gain-
PARP16-
-
-
-
3Gain-
PARP2-
-
-
-
3Gain-
PARP6-
-
-
-
3Gain-
PATL2-
-
-
-
3Gain-
PAX5-
-
-
-
1Loss-
PAX9-
-
-
-
3Gain-
PBK-
-
-
-
1Loss-
PBX1-
-
-
-
3Gain-
PBXIP1-
-
-
-
3Gain-
PCDH7-
-
-
-
1Loss-
PCGF2-
-
-
-
6Amp-
PCGF3-
-
-
-
1Loss-
PCIF1-
-
-
-
3Gain-
PCK1-
-
-
-
3Gain-
PCK2-
-
-
-
3Gain-
PCLAF-
-
-
-
3Gain-
PCM1-
-
-
-
1Loss-
PCMTD1-
-
-
-
1Loss-
PCMTD2-
-
-
-
3Gain-
PCNX1-
-
-
-
3Gain-
PCNX2-
-
-
-
3Gain-
PCNX4-
-
-
-
3Gain-
PCP4L1-
-
-
-
3Gain-
PCSK6-
-
-
-
3Gain-
PCTP-
-
-
-
4Gain-
PCYT2-
-
-
-
4Gain-
PDC-
-
-
-
3Gain-
PDCD1LG2-
-
-
-
1Loss-
PDCD7-
-
-
-
3Gain-
PDE4DIP-
-
-
-
3Gain-
PDE6B-
-
-
-
1Loss-
PDE6G-
-
-
-
4Gain-
PDE7A-
-
-
-
1Loss-
PDE8A-
-
-
-
3Gain-
PDGFRL-
-
-
-
1Loss-
PDIA3-
-
-
-
3Gain-
PDK2-
-
-
-
4Gain-
PDLIM2-
-
-
-
1Loss-
PDP1-
-
-
-
3Gain-
PDRG1-
-
-
-
3Gain-
PDS5A-
-
-
-
1Loss-
PDZK1-
-
-
-
3Gain-
PEA15-
-
-
-
3Gain-
PEAK1-
-
-
-
3Gain-
PEAR1-
-
-
-
3Gain-
PEBP4-
-
-
-
1Loss-
PECAM1-
-
-
-
4Gain-
PELI2-
-
-
-
3Gain-
PENK-
-
-
-
1Loss-
PERM1p.Q520E
Missense
SNP
0.081
2--
PEX11A-
-
-
-
3Gain-
PEX11B-
-
-
-
3Gain-
PEX12-
-
-
-
6Amp-
PEX19-
-
-
-
3Gain-
PEX2-
-
-
-
3Gain-
PFDN2-
-
-
-
3Gain-
PFDN4-
-
-
-
3Gain-
PFKFB2-
-
-
-
3Gain-
PGAP3-
-
-
-
6Amp-
PGBD2-
-
-
-
3Gain-
PGBD4-
-
-
-
3Gain-
PGBD5-
-
-
-
3Gain-
PGF-
-
-
-
3Gain-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGM2-
-
-
-
1Loss-
PGPEP1L-
-
-
-
3Gain-
PGS1-
-
-
-
4Gain-
PHACTR3-
-
-
-
3Gain-
PHF20-
-
-
-
3Gain-
PHF20L1-
-
-
-
3Gain-
PHF24-
-
-
-
1Loss-
PHGR1-
-
-
-
3Gain-
PHLDA3-
-
-
-
3Gain-
PHOX2B-
-
-
-
3Gain-
PHYHIP-
-
-
-
1Loss-
PI15-
-
-
-
3Gain-
PI3-
-
-
-
3Gain-
PI4K2B-
-
-
-
1Loss-
PI4KB-
-
-
-
3Gain-
PIAS1-
-
-
-
3Gain-
PIAS3-
-
-
-
3Gain-
PIF1-
-
-
-
3Gain-
PIGB-
-
-
-
3Gain-
PIGC-
-
-
-
3Gain-
PIGG-
-
-
-
1Loss-
PIGH-
-
-
-
3Gain-
PIGM-
-
-
-
3Gain-
PIGO-
-
-
-
1Loss-
PIGRp.G365S
Missense
SNP
0.064
3Gain-
PIGT-
-
-
-
3Gain-
PIGU-
-
-
-
3Gain-
PIK3C2B-
-
-
-
3Gain-
PINX1-
-
-
-
1Loss-
PIP4K2B-
-
-
-
6Amp-
PIP4P1-
-
-
-
3Gain-
PIP4P2-
-
-
-
3Gain-
PIP5K1A-
-
-
-
3Gain-
PITPNC1-
-
-
-
4Gain-
PIWIL2-
-
-
-
1Loss-
PKHD1L1-
-
-
-
3Gain-
PKIA-
-
-
-
3Gain-
PKIG-
-
-
-
3Gain-
PKLR-
-
-
-
3Gain-
PKM-
-
-
-
3Gain-
PKP1-
-
-
-
3Gain-
PLA2G3p.E116Q
Missense
SNP
0.076
2--
PLA2G4A-
-
-
-
3Gain-
PLA2G4B-
-
-
-
3Gain-
PLA2G4D-
-
-
-
3Gain-
PLA2G4E-
-
-
-
3Gain-
PLA2G4F-
-
-
-
3Gain-
PLAA-
-
-
-
1Loss-
PLAG1-
-
-
-
1Loss-
PLAGL2-
-
-
-
3Gain-
PLAT-
-
-
-
1Loss-
PLCB2-
-
-
-
3Gain-
PLCG1-
-
-
-
3Gain-
PLD4-
-
-
-
3Gain-
PLD5-
-
-
-
3Gain-
PLEC-
-
-
-
3Gain-
PLEK2-
-
-
-
3Gain-
PLEKHA2-
-
-
-
1Loss-
PLEKHA6-
-
-
-
3Gain-
PLEKHD1-
-
-
-
3Gain-
PLEKHF2-
-
-
-
3Gain-
PLEKHG3-
-
-
-
3Gain-
PLEKHH1-
-
-
-
3Gain-
PLEKHH3-
-
-
-
3Gain-
PLEKHO1-
-
-
-
3Gain-
PLEKHO2-
-
-
-
3Gain-
PLGRKT-
-
-
-
1Loss-
PLIN1-
-
-
-
3Gain-
PLIN2-
-
-
-
1Loss-
PLPBP-
-
-
-
1Loss-
PLPP5-
-
-
-
1Loss-
PLPP6-
-
-
-
1Loss-
PLTP-
-
-
-
3Gain-
PLXDC1-
-
-
-
6Amp-
PLXNA2-
-
-
-
3Gain-
PM20D1-
-
-
-
3Gain-
PMEL-
-
-
-
2-RPS13--PMEL
PMEPA1-
-
-
-
3Gain-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PML-
-
-
-
3Gain-
PMP2-
-
-
-
3Gain-
PMVK-
-
-
-
3Gain-
PNMA1-
-
-
-
3Gain-
PNMA2-
-
-
-
1Loss-
PNMT-
-
-
-
6Amp-
PNN-
-
-
-
3Gain-
PNOC-
-
-
-
1Loss-
PNP-
-
-
-
3Gain-
PNPT1p.I121V
Missense
SNP
0.082
2--
POFUT1-
-
-
-
3Gain-
POGK-
-
-
-
3Gain-
POGZ-
-
-
-
3Gain-
POLB-
-
-
-
1Loss-
POLE2-
-
-
-
3Gain-
POLG-
-
-
-
3Gain-
POLG2-
-
-
-
4Gain-
POLN-
-
-
-
1Loss-
POLR1E-
-
-
-
1Loss-
POLR2K-
-
-
-
3Gain-
POLR2M-
-
-
-
1Loss-
POLR3C-
-
-
-
3Gain-
POLR3D-
-
-
-
1Loss-
POLR3GL-
-
-
-
3Gain-
POMK-
-
-
-
1Loss-
POMT2-
-
-
-
3Gain-
POP1-
-
-
-
3Gain-
POTEB-
-
-
-
3Gain-
POTEB2-
-
-
-
3Gain-
POTEB3-
-
-
-
3Gain-
POU2F1-
-
-
-
3Gain-
POU5F1B-
-
-
-
3Gain-
PPARGC1A-
-
-
-
1Loss-
PPCDC-
-
-
-
3Gain-
PPDPF-
-
-
-
3Gain-
PPDPFL-
-
-
-
1Loss-
PPFIA4-
-
-
-
3Gain-
PPIAL4C-
-
-
-
3Gain-
PPIAL4D-
-
-
-
3Gain-
PPIAL4G-
-
-
-
3Gain-
PPIB-
-
-
-
3Gain-
PPIP5K1-
-
-
-
3Gain-
PPM1A-
-
-
-
3Gain-
PPM1D-
-
-
-
8Amp-
PPM1E-
-
-
-
4Gain-
PPOX-
-
-
-
3Gain-
PPP1R12B-
-
-
-
3Gain-
PPP1R13B-
-
-
-
3Gain-
PPP1R14D-
-
-
-
3Gain-
PPP1R15B-
-
-
-
3Gain-
PPP1R16A-
-
-
-
3Gain-
PPP1R16B-
-
-
-
3Gain-
PPP1R1B-
-
-
-
6Amp-
PPP1R27-
-
-
-
4Gain-
PPP1R36-
-
-
-
3Gain-
PPP1R3B-
-
-
-
1Loss-
PPP1R3D-
-
-
-
3Gain-
PPP1R3E-
-
-
-
3Gain-
PPP1R42-
-
-
-
1Loss-
PPP1R9B-
-
-
-
4Gain-
PPP2CB-
-
-
-
1Loss-
PPP2R2A-
-
-
-
1Loss-
PPP2R2C-
-
-
-
1Loss-
PPP2R3C-
-
-
-
3Gain-
PPP2R5A-
-
-
-
3Gain-
PPP2R5C-
-
-
-
3Gain-
PPP2R5E-
-
-
-
3Gain-
PPP3CC-
-
-
-
1Loss-
PPP4R3A-
-
-
-
3Gain-
PPP4R4-
-
-
-
3Gain-
PRAG1-
-
-
-
1Loss-
PRC1-
-
-
-
3Gain-
PRCC-
-
-
-
3Gain-
PRCD-
-
-
-
4Gain-
PRDM14-
-
-
-
3Gain-
PRDX6-
-
-
-
3Gain-
PRELID3B-
-
-
-
3Gain-
PRELP-
-
-
-
3Gain-
PREX1-
-
-
-
3Gain-
PREX2-
-
-
-
1Loss-
PRG4-
-
-
-
3Gain-
PRIMA1-
-
-
-
3Gain-
PRKAB2-
-
-
-
3Gain-
PRKAR1A-
-
-
-
4Gain-
PRKCA-
-
-
-
4Gain-
PRKCH-
-
-
-
3Gain-
PRKD1-
-
-
-
3Gain-
PRKDC-
-
-
-
1Loss-
PRMT5-
-
-
-
3Gain-
PROCR-
-
-
-
3Gain-
PROM1-
-
-
-
1Loss-
PROX1-
-
-
-
3Gain-
PROX2-
-
-
-
3Gain-
PRPF3-
-
-
-
3Gain-
PRPF39-
-
-
-
3Gain-
PRPF6-
-
-
-
3Gain-
PRPSAP1-
-
-
-
4Gain-
PRR11-
-
-
-
4Gain-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR29-
-
-
-
8Amp-
PRR9-
-
-
-
3Gain-
PRRC2C-
-
-
-
3Gain-
PRRX1-
-
-
-
3Gain-
PRSS3-
-
-
-
1Loss-
PRSS38-
-
-
-
3Gain-
PRSS55-
-
-
-
1Loss-
PRTG-
-
-
-
3Gain-
PRUNE1-
-
-
-
3Gain-
PSAPL1p.A517T
p.V296M
Missense
Missense
SNP
SNP
0.060
0.067
1Loss-
PSCA-
-
-
-
3Gain-
PSD3-
-
-
-
1Loss-
PSEN1-
-
-
-
3Gain-
PSEN2-
-
-
-
3Gain-
PSIP1-
-
-
-
1Loss-
PSKH2-
-
-
-
3Gain-
PSMA3-
-
-
-
3Gain-
PSMA4-
-
-
-
3Gain-
PSMA6-
-
-
-
3Gain-
PSMA7-
-
-
-
3Gain-
PSMB1p.P11A
Missense
SNP
0.071
2--
PSMB11-
-
-
-
3Gain-
PSMB3-
-
-
-
6Amp-
PSMB4-
-
-
-
3Gain-
PSMB5-
-
-
-
3Gain-
PSMC1-
-
-
-
3Gain-
PSMC3IP-
-
-
-
3Gain-
PSMC5-
-
-
-
8Amp-
PSMC6-
-
-
-
3Gain-
PSMD12-
-
-
-
4Gain-
PSMD3-
-
-
-
6Amp-
PSMD4-
-
-
-
3Gain-
PSME1-
-
-
-
3Gain-
PSME2-
-
-
-
3Gain-
PSME3-
-
-
-
3Gain-
PSTPIP1-
-
-
-
3Gain-
PTDSS1-
-
-
-
3Gain-
PTGDR-
-
-
-
3Gain-
PTGER2-
-
-
-
3Gain-
PTGES3L-
-
-
-
3Gain-
PTGES3L-AARSD1-
-
-
-
3Gain-
PTGIS-
-
-
-
3Gain-
PTGR2-
-
-
-
3Gain-
PTGS2-
-
-
-
3Gain-
PTK2-
-
-
-
3Gain-
PTK2B-
-
-
-
1Loss-
PTK6-
-
-
-
3Gain-
PTP4A3-
-
-
-
3Gain-
PTPN1-
-
-
-
3Gain-
PTPN14-
-
-
-
3Gain-
PTPN21-
-
-
-
3Gain-
PTPN7-
-
-
-
3Gain-
PTPN9-
-
-
-
3Gain-
PTPRC-
-
-
-
3Gain-
PTPRD-
-
-
-
1Loss-
PTPRT-
-
-
-
3Gain-
PTRH2-
-
-
-
4Gain-
PTTG2-
-
-
-
1Loss-
PUF60-
-
-
-
3Gain-
PUM3-
-
-
-
1Loss-
PURG-
-
-
-
1Loss-
PVALEF-
-
-
-
4Gain-
PXDNp.R943P
Missense
SNP
0.147
2--
PXDNL-
-
-
-
1Loss-
PXMP4-
-
-
-
3Gain-
PYCR1-
-
-
-
4Gain-
PYCR2-
-
-
-
3Gain-
PYCR3-
-
-
-
3Gain-
PYGL-
-
-
-
3Gain-
PYGO1-
-
-
-
3Gain-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
QDPR-
-
-
-
1Loss-
QRICH2-
-
-
-
4Gain-
QSOX1-
-
-
-
3Gain-
R3HCC1-
-
-
-
1Loss-
R3HDML-
-
-
-
3Gain-
RAB11A-
-
-
-
3Gain-
RAB11FIP1-
-
-
-
1Loss-
RAB13-
-
-
-
3Gain-
RAB15-
-
-
-
3Gain-
RAB22A-
-
-
-
3Gain-
RAB25-
-
-
-
3Gain-
RAB27A-
-
-
-
3Gain-
RAB28-
-
-
-
1Loss-
RAB29-
-
-
-
3Gain-
RAB2A-
-
-
-
1Loss-
RAB2B-
-
-
-
3Gain-
RAB37-
-
-
-
4Gain-
RAB3GAP2-
-
-
-
3Gain-
RAB40B-
-
-
-
4Gain-
RAB4A-
-
-
-
3Gain-
RAB5C-
-
-
-
3Gain-
RAB5IF-
-
-
-
3Gain-
RAB8B-
-
-
-
3Gain-
RABGAP1L-
-
-
-
3Gain-
RABGGTA-
-
-
-
3Gain-
RABIF-
-
-
-
3Gain-
RAC3-
-
-
-
4Gain-
RAD21-
-
-
-
3Gain-
RAD51-
-
-
-
3Gain-
RAD51B-
-
-
-
3Gain-
RAD51C-
-
-
-
4Gain-
RAD51D-
-
-
-
6Amp-
RAD51L3-RFFL-
-
-
-
6Amp-
RAD54B-
-
-
-
3Gain-
RAE1-
-
-
-
3Gain-
RALGAPA1-
-
-
-
3Gain-
RALGAPB-
-
-
-
3Gain-
RALGPS2-
-
-
-
3Gain-
RALY-
-
-
-
3Gain-
RALYL-
-
-
-
3Gain-
RAMAC-
-
-
-
3Gain-
RAMP2-
-
-
-
3Gain-
RANBP6-
-
-
-
1Loss-
RAPGEFL1-
-
-
-
6Amp-
RARA-
-
-
-
6Amp-
RASAL2-
-
-
-
3Gain-
RASGRF1-
-
-
-
3Gain-
RASGRP1-
-
-
-
3Gain-
RASL10B-
-
-
-
6Amp-
RASL12-
-
-
-
3Gain-
RASSF5-
-
-
-
3Gain-
RB1CC1-
-
-
-
1Loss-
RBBP5-
-
-
-
3Gain-
RBBP8NL-
-
-
-
3Gain-
RBFOX3-
-
-
-
4Gain-
RBL1-
-
-
-
3Gain-
RBM12-
-
-
-
3Gain-
RBM12B-
-
-
-
3Gain-
RBM23-
-
-
-
3Gain-
RBM25-
-
-
-
3Gain-
RBM34-
-
-
-
3Gain-
RBM38-
-
-
-
3Gain-
RBM39-
-
-
-
3Gain-
RBM47-
-
-
-
1Loss-
RBM8A-
-
-
-
3Gain-
RBPJ-
-
-
-
1Loss-
RBPJL-
-
-
-
3Gain-
RBPMS-
-
-
-
1Loss-
RBPMS2-
-
-
-
3Gain-
RC3H1-
-
-
-
3Gain-
RCCD1-
-
-
-
3Gain-
RCL1-
-
-
-
1Loss-
RCN2-
-
-
-
3Gain-
RCOR1-
-
-
-
3Gain-
RCOR3-
-
-
-
3Gain-
RCSD1-
-
-
-
3Gain-
RD3-
-
-
-
3Gain-
RD3L-
-
-
-
3Gain-
RDH10-
-
-
-
3Gain-
RDH11-
-
-
-
3Gain-
RDH12-
-
-
-
3Gain-
RDM1-
-
-
-
6Amp-
REC114-
-
-
-
3Gain-
REC8-
-
-
-
3Gain-
RECK-
-
-
-
1Loss-
RECQL4-
-
-
-
3Gain-
RECQL5-
-
-
-
4Gain-
REEP4-
-
-
-
1Loss-
RELL1-
-
-
-
1Loss-
REM1-
-
-
-
3Gain-
REM2-
-
-
-
3Gain-
REN-
-
-
-
3Gain-
RETREG3-
-
-
-
3Gain-
RFC1-
-
-
-
1Loss-
RFFL-
-
-
-
6Amp-
RFNG-
-
-
-
4Gain-
RFX3-
-
-
-
1Loss-
RFX5-
-
-
-
3Gain-
RFX7-
-
-
-
1Loss-
RGL1-
-
-
-
3Gain-
RGMA-
-
-
-
3Gain-
RGP1-
-
-
-
1Loss-
RGS1-
-
-
-
3Gain-
RGS12-
-
-
-
1Loss-
RGS13-
-
-
-
3Gain-
RGS16-
-
-
-
3Gain-
RGS18-
-
-
-
3Gain-
RGS19-
-
-
-
3Gain-
RGS2-
-
-
-
3Gain-
RGS20-
-
-
-
1Loss-
RGS21-
-
-
-
3Gain-
RGS22-
-
-
-
3Gain-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS6p.W366*
Nonsense
SNP
0.607
3Gain-
RGS7-
-
-
-
3Gain-
RGS8-
-
-
-
3Gain-
RGS9-
-
-
-
4Gain-
RGS9BPp.A223V
Missense
SNP
0.054
2--
RGSL1-
-
-
-
3Gain-
RHBDF2-
-
-
-
4Gain-
RHBG-
-
-
-
3Gain-
RHCG-
-
-
-
3Gain-
RHEX-
-
-
-
3Gain-
RHOBTB2-
-
-
-
1Loss-
RHOH-
-
-
-
1Loss-
RHOJ-
-
-
-
3Gain-
RHOU-
-
-
-
3Gain-
RHOV-
-
-
-
3Gain-
RHPN1-
-
-
-
3Gain-
RIC1-
-
-
-
1Loss-
RIDA-
-
-
-
3Gain-
RIIAD1-
-
-
-
3Gain-
RIMS2-
-
-
-
3Gain-
RIMS4-
-
-
-
3Gain-
RIN3-
-
-
-
3Gain-
RIOX1-
-
-
-
3Gain-
RIPK2-
-
-
-
3Gain-
RIPK3-
-
-
-
3Gain-
RIPOR3-
-
-
-
3Gain-
RIT1-
-
-
-
3Gain-
RLBP1-
-
-
-
3Gain-
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RMDN1-
-
-
-
3Gain-
RMDN3-
-
-
-
3Gain-
RNASE1-
-
-
-
3Gain-
RNASE10-
-
-
-
3Gain-
RNASE11-
-
-
-
3Gain-
RNASE12-
-
-
-
3Gain-
RNASE13-
-
-
-
3Gain-
RNASE2-
-
-
-
3Gain-
RNASE3-
-
-
-
3Gain-
RNASE4-
-
-
-
3Gain-
RNASE6-
-
-
-
3Gain-
RNASE7-
-
-
-
3Gain-
RNASE8-
-
-
-
3Gain-
RNASE9-
-
-
-
3Gain-
RNASEL-
-
-
-
3Gain-
RNF111-
-
-
-
1Loss-
RNF114-
-
-
-
3Gain-
RNF115-
-
-
-
3Gain-
RNF122-
-
-
-
1Loss-
RNF139-
-
-
-
3Gain-
RNF157-
-
-
-
4Gain-
RNF17p.N1110K
Missense
SNP
0.077
2--
RNF170-
-
-
-
1Loss-
RNF187-
-
-
-
3Gain-
RNF19A-
-
-
-
3Gain-
RNF2-
-
-
-
3Gain-
RNF212-
-
-
-
1Loss-
RNF212B-
-
-
-
3Gain-
RNF213-
-
-
-
4Gain-
RNF31-
-
-
-
3Gain-
RNF38-
-
-
-
1Loss-
RNF4-
-
-
-
1Loss-
RNF43-
-
-
-
4Gain-
RNFT1-
-
-
-
4Gain-
RNPEP-
-
-
-
3Gain-
ROMO1-
-
-
-
3Gain-
RORA-
-
-
-
1Loss-
RORC-
-
-
-
3Gain-
RP1-
-
-
-
1Loss-
RP1L1-
-
-
-
1Loss-
RPAP1-
-
-
-
3Gain-
RPGRIP1-
-
-
-
3Gain-
RPL10L-
-
-
-
3Gain-
RPL19-
-
-
-
6Amp-
RPL23-
-
-
-
6Amp-
RPL30-
-
-
-
3Gain-
RPL36AL-
-
-
-
3Gain-
RPL38-
-
-
-
4Gain-
RPL4-
-
-
-
3Gain-
RPL7-
-
-
-
3Gain-
RPL8-
-
-
-
3Gain-
RPL9-
-
-
-
1Loss-
RPLP1-
-
-
-
3Gain-
RPN2-
-
-
-
3Gain-
RPP25-
-
-
-
3Gain-
RPP25L-
-
-
-
1Loss-
RPRD1B-
-
-
-
3Gain-
RPRD2-
-
-
-
3Gain-
RPS13-
-
-
-
2-RPS13--PMEL
RPS17-
-
-
-
3GainRPS17P14--RPS17
RPS17P14-
-
-
-
NDNDRPS17P14--AC245033.1
RPS17P14--RPS17
RPS20-
-
-
-
1Loss-
RPS21-
-
-
-
3Gain-
RPS27-
-
-
-
3Gain-
RPS27L-
-
-
-
3Gain-
RPS29-
-
-
-
3Gain-
RPS6-
-
-
-
1Loss-
RPS6KA5-
-
-
-
3Gain-
RPS6KB1-
-
-
-
4Gain-
RPS6KC1-
-
-
-
3Gain-
RPS6KL1-
-
-
-
3Gain-
RPTN-
-
-
-
3Gain-
RPTOR-
-
-
-
4Gain-
RPUSD2-
-
-
-
3Gain-
RRAGA-
-
-
-
1Loss-
RRM2B-
-
-
-
3Gain-
RRNAD1-
-
-
-
3Gain-
RRP12p.R1281Q
Missense
SNP
0.058
2--
RRP15-
-
-
-
3Gain-
RRS1-
-
-
-
1Loss-
RSAD1-
-
-
-
4Gain-
RSL24D1-
-
-
-
3Gain-
RSPO2-
-
-
-
3Gain-
RTEL1-
-
-
-
3Gain-
RTEL1-TNFRSF6B-
-
-
-
3Gain-
RTF1-
-
-
-
3Gain-
RTF2-
-
-
-
3Gain-
RTL1-
-
-
-
3Gain-
RTN1-
-
-
-
3Gain-
RTRAF-
-
-
-
3Gain-
RUNDC1-
-
-
-
3Gain-
RUNX1T1-
-
-
-
3Gain-
RUSC1-
-
-
-
3Gain-
RUSC2-
-
-
-
1Loss-
RXFP4-
-
-
-
3Gain-
RXRG-
-
-
-
3Gain-
RYR2-
-
-
-
3Gain-
RYR3-
-
-
-
3Gain-
S100A1-
-
-
-
3Gain-
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100A12-
-
-
-
3Gain-
S100A13-
-
-
-
3Gain-
S100A14-
-
-
-
3Gain-
S100A16-
-
-
-
3Gain-
S100A2-
-
-
-
3Gain-
S100A3-
-
-
-
3Gain-
S100A4-
-
-
-
3Gain-
S100A5-
-
-
-
3Gain-
S100A6-
-
-
-
3Gain-
S100A7-
-
-
-
3Gain-
S100A7A-
-
-
-
3Gain-
S100A7L2-
-
-
-
3Gain-
S100A8-
-
-
-
3Gain-
S100A9-
-
-
-
3Gain-
S100P-
-
-
-
1Loss-
SALL2-
-
-
-
3Gain-
SALL4-
-
-
-
3Gain-
SAMD10-
-
-
-
3Gain-
SAMD12-
-
-
-
3Gain-
SAMD14-
-
-
-
4Gain-
SAMD15-
-
-
-
3Gain-
SAMD4A-
-
-
-
3Gain-
SAMHD1-
-
-
-
3Gain-
SAP30BP-
-
-
-
4Gain-
SARAF-
-
-
-
1Loss-
SAV1-
-
-
-
3Gain-
SAXO1-
-
-
-
1Loss-
SAXO2-
-
-
-
3Gain-
SBSPON-
-
-
-
3Gain-
SCAMP2-
-
-
-
3Gain-
SCAMP3-
-
-
-
3Gain-
SCAMP5-
-
-
-
3Gain-
SCAND1-
-
-
-
3Gain-
SCAPER-
-
-
-
3Gain-
SCARA3-
-
-
-
1Loss-
SCARA5-
-
-
-
1Loss-
SCARNA2-
-
-
-
NDNDSCARNA2--MTRNR2L3
SCCPDH-
-
-
-
3Gain-
SCFD1-
-
-
-
3Gain-
SCG3-
-
-
-
3Gain-
SCG5-
-
-
-
3Gain-
SCN1Bp.L210P
Missense
SNP
0.052
2--
SCN4A-
-
-
-
8Amp-
SCNM1-
-
-
-
3Gain-
SCPEP1-
-
-
-
4Gain-
SCRIB-
-
-
-
3Gain-
SCRT1-
-
-
-
3Gain-
SCYL3-
-
-
-
3Gain-
SDC2-
-
-
-
3Gain-
SDC4-
-
-
-
3Gain-
SDCBP-
-
-
-
1Loss-
SDCCAG8-
-
-
-
3Gain-
SDE2-
-
-
-
3Gain-
SDHC-
-
-
-
3Gain-
SDK2-
-
-
-
4Gain-
SDR16C5-
-
-
-
1Loss-
SDR39U1-
-
-
-
3Gain-
SEC11A-
-
-
-
3Gain-
SEC14L1-
-
-
-
4Gain-
SEC14L6p.R20Q
Missense
SNP
0.089
2--
SEC16B-
-
-
-
3Gain-
SEC23A-
-
-
-
3Gain-
SECISBP2L-
-
-
-
3Gain-
SECTM1-
-
-
-
4Gain-
SEL1L-
-
-
-
3Gain-
SEL1L3-
-
-
-
1Loss-
SELE-
-
-
-
3Gain-
SELENBP1-
-
-
-
3Gain-
SELENOS-
-
-
-
3Gain-
SELL-
-
-
-
3Gain-
SELP-
-
-
-
3Gain-
SEMA4A-
-
-
-
3Gain-
SEMA4B-
-
-
-
3Gain-
SEMA6C-
-
-
-
3Gain-
SEMA6D-
-
-
-
3Gain-
SEMA7A-
-
-
-
3Gain-
SEMG1-
-
-
-
3Gain-
SEMG2-
-
-
-
3Gain-
SENP8-
-
-
-
3Gain-
SEPSECS-
-
-
-
1Loss-
SEPT4-
-
-
-
4Gain-
SEPT9-
-
-
-
4Gain-
SERF2-
-
-
-
3Gain-
SERINC3-
-
-
-
3Gain-
SERINC4-
-
-
-
3Gain-
SERPINA1-
-
-
-
3Gain-
SERPINA10-
-
-
-
3Gain-
SERPINA11-
-
-
-
3Gain-
SERPINA12-
-
-
-
3Gain-
SERPINA3-
-
-
-
3Gain-
SERPINA4-
-
-
-
3Gain-
SERPINA5-
-
-
-
3Gain-
SERPINA6-
-
-
-
3Gain-
SERPINA9-
-
-
-
3Gain-
SERPINC1-
-
-
-
3Gain-
SERPINI1p.F7L
Missense
SNP
0.056
2--
SERTAD4-
-
-
-
3Gain-
SETD3-
-
-
-
3Gain-
SETDB1-
-
-
-
3Gain-
SF3B4-
-
-
-
3Gain-
SFRP1-
-
-
-
1Loss-
SFT2D2-
-
-
-
3Gain-
SFTA3-
-
-
-
3Gain-
SFTPC-
-
-
-
1Loss-
SFTPDp.S290T
Missense
SNP
0.093
2--
SGCA-
-
-
-
4Gain-
SGCZ-
-
-
-
1Loss-
SGK2-
-
-
-
3Gain-
SGK3-
-
-
-
1Loss-
SGPP1-
-
-
-
3Gain-
SGSH-
-
-
-
4Gain-
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH2D4A-
-
-
-
1Loss-
SH2D7-
-
-
-
3Gain-
SH3BP1p.P521T
Missense
SNP
0.075
2--
SH3BP2-
-
-
-
1Loss-
SH3BP5L-
-
-
-
3Gain-
SH3GL2-
-
-
-
1Loss-
SH3GL3-
-
-
-
3Gain-
SH3TC1-
-
-
-
1Loss-
SHARPIN-
-
-
-
3Gain-
SHB-
-
-
-
1Loss-
SHC1-
-
-
-
3Gain-
SHC4-
-
-
-
3Gain-
SHCBP1L-
-
-
-
3Gain-
SHE-
-
-
-
3Gain-
SHF-
-
-
-
3Gain-
SHISA4-
-
-
-
3Gain-
SIGMAR1-
-
-
-
1Loss-
SIN3A-
-
-
-
3Gain-
SIPA1L1-
-
-
-
3Gain-
SIPA1L2-
-
-
-
3Gain-
SIRT7-
-
-
-
4Gain-
SIT1-
-
-
-
1Loss-
SIVA1-
-
-
-
3Gain-
SIX1-
-
-
-
3Gain-
SIX4-
-
-
-
3Gain-
SIX6-
-
-
-
3Gain-
SKA2-
-
-
-
4Gain-
SKOR1-
-
-
-
3Gain-
SLA-
-
-
-
3Gain-
SLA2-
-
-
-
3Gain-
SLAIN2-
-
-
-
1Loss-
SLAMF1-
-
-
-
3Gain-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8-
-
-
-
3Gain-
SLAMF9-
-
-
-
3Gain-
SLBP-
-
-
-
1Loss-
SLC10A1-
-
-
-
3Gain-
SLC10A4-
-
-
-
1Loss-
SLC10A5-
-
-
-
3Gain-
SLC12A1-
-
-
-
3Gain-
SLC12A5-
-
-
-
3Gain-
SLC12A6-
-
-
-
3Gain-
SLC13A3-
-
-
-
3Gain-
SLC16A3-
-
-
-
4Gain-
SLC16A5-
-
-
-
4Gain-
SLC16A6-
-
-
-
4Gain-
SLC17A9-
-
-
-
3Gain-
SLC18A1-
-
-
-
1Loss-
SLC19A2-
-
-
-
3Gain-
SLC1A1-
-
-
-
1Loss-
SLC20A2-
-
-
-
1Loss-
SLC22A17-
-
-
-
3Gain-
SLC24A1-
-
-
-
3Gain-
SLC24A2-
-
-
-
1Loss-
SLC24A4-
-
-
-
3Gain-
SLC24A5-
-
-
-
3Gain-
SLC25A10-
-
-
-
4Gain-
SLC25A19-
-
-
-
4Gain-
SLC25A21-
-
-
-
3Gain-
SLC25A29-
-
-
-
3Gain-
SLC25A32-
-
-
-
3Gain-
SLC25A37-
-
-
-
1Loss-
SLC25A44-
-
-
-
3Gain-
SLC25A47-
-
-
-
3Gain-
SLC25A51-
-
-
-
1Loss-
SLC26A1-
-
-
-
1Loss-
SLC26A11-
-
-
-
4Gain-
SLC26A7-
-
-
-
3Gain-
SLC26A9-
-
-
-
3Gain-
SLC27A2-
-
-
-
3Gain-
SLC27A3-
-
-
-
3Gain-
SLC28A1-
-
-
-
3Gain-
SLC28A2-
-
-
-
3Gain-
SLC2A10-
-
-
-
3Gain-
SLC2A4RG-
-
-
-
3Gain-
SLC2A9-
-
-
-
1Loss-
SLC30A1-
-
-
-
3Gain-
SLC30A10-
-
-
-
3Gain-
SLC30A4-
-
-
-
3Gain-
SLC30A8-
-
-
-
3Gain-
SLC30A9-
-
-
-
3Gain-
SLC32A1-
-
-
-
3Gain-
SLC34A2-
-
-
-
1Loss-
SLC35C2-
-
-
-
3Gain-
SLC35F3-
-
-
-
3Gain-
SLC35F4-
-
-
-
3Gain-
SLC35G3-
-
-
-
6Amp-
SLC35G5p.A43V
Missense
SNP
0.139
1Loss-
SLC38A10-
-
-
-
4Gain-
SLC38A6-
-
-
-
3Gain-
SLC39A1-
-
-
-
3Gain-
SLC39A11-
-
-
-
4Gain-
SLC39A14-
-
-
-
1Loss-
SLC39A2-
-
-
-
3Gain-
SLC39A4-
-
-
-
3Gain-
SLC39A9-
-
-
-
3Gain-
SLC41A1-
-
-
-
3Gain-
SLC41A3p.P351S
Missense
SNP
0.957
2--
SLC45A3-
-
-
-
3Gain-
SLC45A4-
-
-
-
3Gain-
SLC49A3-
-
-
-
1Loss-
SLC50A1-
-
-
-
3Gain-
SLC51B-
-
-
-
3Gain-
SLC52A2-
-
-
-
3Gain-
SLC7A13-
-
-
-
3Gain-
SLC7A2-
-
-
-
1Loss-
SLC7A7-
-
-
-
3Gain-
SLC7A8-
-
-
-
3Gain-
SLC8A3-
-
-
-
3Gain-
SLC9A3R1-
-
-
-
4Gain-
SLC9A8-
-
-
-
3Gain-
SLC9C2-
-
-
-
3Gain-
SLCO3A1-
-
-
-
3Gain-
SLCO4A1-
-
-
-
3Gain-
SLCO5A1-
-
-
-
1Loss-
SLFN11-
-
-
-
6Amp-
SLFN12-
-
-
-
6Amp-
SLFN12L-
-
-
-
6Amp-
SLFN13-
-
-
-
6Amp-
SLFN14-
-
-
-
6Amp-
SLFN5-
-
-
-
6Amp-
SLIRP-
-
-
-
3Gain-
SLIT2-
-
-
-
1Loss-
SLPI-
-
-
-
3Gain-
SLTM-
-
-
-
1Loss-
SLURP1-
-
-
-
3Gain-
SLURP2-
-
-
-
3Gain-
SMAD3-
-
-
-
3Gain-
SMAD6-
-
-
-
3Gain-
SMARCA2-
-
-
-
1Loss-
SMARCD2-
-
-
-
8Amp-
SMARCE1-
-
-
-
6Amp-
SMC6p.R464G
Missense
SNP
0.081
2--
SMCP-
-
-
-
3Gain-
SMG5-
-
-
-
3Gain-
SMG7-
-
-
-
3Gain-
SMG8-
-
-
-
4Gain-
SMIM14-
-
-
-
1Loss-
SMIM18-
-
-
-
1Loss-
SMIM19-
-
-
-
1Loss-
SMIM20-
-
-
-
1Loss-
SMIM27-
-
-
-
1Loss-
SMIM5-
-
-
-
4Gain-
SMIM6-
-
-
-
4Gain-
SMOC1-
-
-
-
3Gain-
SMU1-
-
-
-
1Loss-
SMURF2-
-
-
-
4Gain-
SMYD2-
-
-
-
3Gain-
SMYD3-
-
-
-
3Gain-
SNAI1-
-
-
-
3Gain-
SNAI2-
-
-
-
1Loss-
SNAP23-
-
-
-
3Gain-
SNAP47-
-
-
-
3Gain-
SNAPC1-
-
-
-
3Gain-
SNAPC3-
-
-
-
1Loss-
SNAPC5-
-
-
-
3Gain-
SNAPIN-
-
-
-
3Gain-
SNHG28-
-
-
-
3Gain-
SNRPA1-
-
-
-
3Gain-
SNRPE-
-
-
-
3Gain-
SNRPN-
-
-
-
3Gain-
SNTA1-
-
-
-
3Gain-
SNTB1-
-
-
-
3Gain-
SNTG1-
-
-
-
1Loss-
SNUPN-
-
-
-
3Gain-
SNURF-
-
-
-
3Gain-
SNW1-
-
-
-
3Gain-
SNX1-
-
-
-
3Gain-
SNX16-
-
-
-
3Gain-
SNX21-
-
-
-
3Gain-
SNX22-
-
-
-
3Gain-
SNX27-
-
-
-
3Gain-
SNX31-
-
-
-
3Gain-
SNX33-
-
-
-
3Gain-
SNX6-
-
-
-
3Gain-
SOAT1-
-
-
-
3Gain-
SOCS3-
-
-
-
4Gain-
SOCS4-
-
-
-
3Gain-
SOCS7-
-
-
-
6Amp-
SOD3-
-
-
-
1Loss-
SOGA1-
-
-
-
3Gain-
SORBS3-
-
-
-
1Loss-
SORCS2-
-
-
-
1Loss-
SORD-
-
-
-
3Gain-
SOS2-
-
-
-
3Gain-
SOX13-
-
-
-
3Gain-
SOX17-
-
-
-
1Loss-
SOX18-
-
-
-
3Gain-
SOX7-
-
-
-
1Loss-
SOX9-
-
-
-
4Gain-
SPAAR-
-
-
-
1Loss-
SPAG1-
-
-
-
3Gain-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAG4-
-
-
-
3Gain-
SPAG8-
-
-
-
1Loss-
SPAG9-
-
-
-
4Gain-
SPATA17-
-
-
-
3Gain-
SPATA2-
-
-
-
3Gain-
SPATA20-
-
-
-
4Gain-
SPATA25-
-
-
-
3Gain-
SPATA31A1-
-
-
-
1Loss-
SPATA45-
-
-
-
3Gain-
SPATA46-
-
-
-
3Gain-
SPATA5L1-
-
-
-
3Gain-
SPATA6Lp.R185G
Missense
SNP
0.100
1Loss-
SPATA7-
-
-
-
3Gain-
SPATA8-
-
-
-
3Gain-
SPATC1-
-
-
-
3Gain-
SPESP1-
-
-
-
3Gain-
SPG11-
-
-
-
3Gain-
SPG21-
-
-
-
3Gain-
SPHAR-
-
-
-
3Gain-
SPHK1-
-
-
-
4Gain-
SPIDR-
-
-
-
1Loss-
SPINK4-
-
-
-
1Loss-
SPINT1-
-
-
-
3Gain-
SPINT3-
-
-
-
3Gain-
SPINT4-
-
-
-
3Gain-
SPO11-
-
-
-
3Gain-
SPON2-
-
-
-
1Loss-
SPPL2A-
-
-
-
3Gain-
SPPL2C-
-
-
-
4Gain-
SPRED1-
-
-
-
3Gain-
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRTN-
-
-
-
3Gain-
SPTA1-
-
-
-
3Gain-
SPTB-
-
-
-
3Gain-
SPTBN5-
-
-
-
3Gain-
SPTLC2-
-
-
-
3Gain-
SPTSSA-
-
-
-
3Gain-
SQLE-
-
-
-
3Gain-
SQOR-
-
-
-
3Gain-
SRBD1p.K811R
Missense
SNP
0.056
2--
SRC-
-
-
-
3Gain-
SRCIN1-
-
-
-
6Amp-
SRGAP2-
-
-
-
3Gain-
SRGAP2B-
-
-
-
3Gain-
SRMS-
-
-
-
3Gain-
SRP14-
-
-
-
3Gain-
SRP54-
-
-
-
3Gain-
SRP68-
-
-
-
4Gain-
SRP9-
-
-
-
3Gain-
SRSF1-
-
-
-
4Gain-
SRSF2-
-
-
-
4Gain-
SRSF5-
-
-
-
3Gain-
SRSF6-
-
-
-
3Gain-
SS18L1-
-
-
-
3Gain-
SSR2-
-
-
-
3Gain-
SSTR1-
-
-
-
3Gain-
SSTR2-
-
-
-
4Gain-
ST18-
-
-
-
1Loss-
ST20-
-
-
-
3Gain-
ST20-MTHFS-
-
-
-
3Gain-
ST3GAL1-
-
-
-
3Gain-
ST6GALNAC1-
-
-
-
4Gain-
ST6GALNAC2-
-
-
-
4Gain-
ST8SIA2-
-
-
-
3Gain-
STAC2-
-
-
-
6Amp-
STAR-
-
-
-
1Loss-
STARD3-
-
-
-
6Amp-
STARD5-
-
-
-
3Gain-
STARD9-
-
-
-
3Gain-
STAT3-
-
-
-
3Gain-
STAT5A-
-
-
-
3Gain-
STAT5B-
-
-
-
3Gain-
STAU1-
-
-
-
3Gain-
STAU2-
-
-
-
3Gain-
STC1-
-
-
-
1Loss-
STH-
-
-
-
4Gain-
STIM2-
-
-
-
1Loss-
STK3-
-
-
-
3Gain-
STK32B-
-
-
-
1Loss-
STK4-
-
-
-
3Gain-
STMN2-
-
-
-
3Gain-
STMN3-
-
-
-
3Gain-
STMN4-
-
-
-
1Loss-
STOML1-
-
-
-
3Gain-
STOML2-
-
-
-
1Loss-
STON2-
-
-
-
3Gain-
STRA6-
-
-
-
3Gain-
STRADA-
-
-
-
8Amp-
STRC-
-
-
-
3Gain-
STRN3-
-
-
-
3Gain-
STUM-
-
-
-
3Gain-
STX16-
-
-
-
3Gain-
STX16-NPEPL1-
-
-
-
3Gain-
STX18-
-
-
-
1Loss-
STX6-
-
-
-
3Gain-
STXBP4-
-
-
-
4Gain-
STXBP6-
-
-
-
3Gain-
STYX-
-
-
-
3Gain-
SUCO-
-
-
-
3Gain-
SULF1-
-
-
-
1Loss-
SULF2-
-
-
-
3Gain-
SUMO2-
-
-
-
4Gain-
SUN5-
-
-
-
3Gain-
SUPT16H-
-
-
-
3Gain-
SUPT4H1-
-
-
-
4Gain-
SUSD4-
-
-
-
3Gain-
SUSD6-
-
-
-
3Gain-
SV2A-
-
-
-
3Gain-
SV2B-
-
-
-
3Gain-
SVEP1p.I637V
Missense
SNP
0.088
2--
SWT1-
-
-
-
3Gain-
SYBU-
-
-
-
3Gain-
SYCE1p.H321R
Missense
SNP
0.082
2--
SYCP2-
-
-
-
3Gain-
SYNDIG1L-
-
-
-
3Gain-
SYNE2-
-
-
-
3Gain-
SYNE3-
-
-
-
3Gain-
SYNGR2-
-
-
-
4Gain-
SYNJ2BP-
-
-
-
3Gain-
SYNJ2BP-COX16-
-
-
-
3Gain-
SYNM-
-
-
-
3Gain-
SYS1-
-
-
-
3Gain-
SYS1-DBNDD2-
-
-
-
3Gain-
SYT11-
-
-
-
3Gain-
SYT14-
-
-
-
3Gain-
SYT16-
-
-
-
3Gain-
SYT2-
-
-
-
3Gain-
TACC1-
-
-
-
1Loss-
TACC2p.A1425T
Missense
SNP
0.079
2--
TACC3-
-
-
-
1Loss-
TACO1-
-
-
-
8Amp-
TADA1-
-
-
-
3Gain-
TADA2B-
-
-
-
1Loss-
TAF15-
-
-
-
6Amp-
TAF1A-
-
-
-
3Gain-
TAF1L-
-
-
-
1Loss-
TAF2-
-
-
-
3Gain-
TAF4-
-
-
-
3Gain-
TAF5L-
-
-
-
3Gain-
TAGLN2-
-
-
-
3Gain-
TANC2-
-
-
-
8Amp-
TAPT1-
-
-
-
1Loss-
TARBP1-
-
-
-
3Gain-
TARS2-
-
-
-
3Gain-
TARSL2-
-
-
-
3Gain-
TATDN1-
-
-
-
3Gain-
TATDN3-
-
-
-
3Gain-
TBC1D1-
-
-
-
1Loss-
TBC1D10Bp.E68Q
Missense
SNP
0.122
2--
TBC1D14-
-
-
-
1Loss-
TBC1D16-
-
-
-
4Gain-
TBC1D19-
-
-
-
1Loss-
TBC1D21-
-
-
-
3Gain-
TBC1D2B-
-
-
-
3Gain-
TBC1D3-
-
-
-
6Amp-
TBC1D31-
-
-
-
3Gain-
TBC1D3B-
-
-
-
6Amp-
TBC1D3C-
-
-
-
6Amp-
TBC1D3D-
-
-
-
6Amp-
TBC1D3G-
-
-
-
6Amp-
TBC1D3H-
-
-
-
6Amp-
TBC1D3I-
-
-
-
6Amp-
TBC1D3K-
-
-
-
6Amp-
TBC1D3L-
-
-
-
6Amp-
TBCD-
-
-
-
4Gain-
TBCE-
-
-
-
3Gain-
TBPL2-
-
-
-
3Gain-
TBX19-
-
-
-
3Gain-
TBX2-
-
-
-
8Amp-
TBX4-
-
-
-
8Amp-
TC2N-
-
-
-
3Gain-
TCAP-
-
-
-
6Amp-
TCEA1-
-
-
-
1Loss-
TCEA2-
-
-
-
3Gain-
TCF12-
-
-
-
1Loss-
TCF24-
-
-
-
1Loss-
TCFL5-
-
-
-
3Gain-
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCIM-
-
-
-
1Loss-
TCL1A-
-
-
-
3Gain-
TCL1B-
-
-
-
3Gain-
TDP1-
-
-
-
3Gain-
TDRD10-
-
-
-
3Gain-
TDRD5-
-
-
-
3Gain-
TDRD9-
-
-
-
3Gain-
TDRKH-
-
-
-
3Gain-
TDRP-
-
-
-
1Loss-
TEC-
-
-
-
1Loss-
TECPR2-
-
-
-
3Gain-
TEDC1-
-
-
-
3Gain-
TEDDM1-
-
-
-
3Gain-
TEK-
-
-
-
1Loss-
TEKT4p.T83M
p.S100G
Missense
Missense
SNP
SNP
0.063
0.096
2--
TEN1-
-
-
-
4Gain-
TEN1-CDK3-
-
-
-
4Gain-
TEP1-
-
-
-
3Gain-
TEPSIN-
-
-
-
4Gain-
TERB2-
-
-
-
3Gain-
TERF1-
-
-
-
3Gain-
TESK1-
-
-
-
1Loss-
TEX14-
-
-
-
4Gain-
TEX15-
-
-
-
1Loss-
TEX19-
-
-
-
4Gain-
TEX2-
-
-
-
4Gain-
TEX22-
-
-
-
3Gain-
TEX35-
-
-
-
3Gain-
TEX50-
-
-
-
3Gain-
TEX9-
-
-
-
1Loss-
TFAP2C-
-
-
-
3Gain-
TFB2M-
-
-
-
3Gain-
TG-
-
-
-
3Gain-
TGFB2-
-
-
-
3Gain-
TGFB3-
-
-
-
3Gain-
TGIF2-
-
-
-
3Gain-
TGIF2-RAB5IF-
-
-
-
3Gain-
TGM1-
-
-
-
3Gain-
TGM2-
-
-
-
3Gain-
TGM5-
-
-
-
3Gain-
TGM7-
-
-
-
3Gain-
TGS1-
-
-
-
1Loss-
THAP1-
-
-
-
1Loss-
THAP10-
-
-
-
3Gain-
THBS1-
-
-
-
3Gain-
THBS3-
-
-
-
3Gain-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEM6-
-
-
-
3Gain-
THRA-
-
-
-
6Amp-
THSD4-
-
-
-
3Gain-
THTPA-
-
-
-
3Gain-
TICRR-
-
-
-
3Gain-
TIGD5-
-
-
-
3Gain-
TIMM17A-
-
-
-
3Gain-
TIMM9-
-
-
-
3Gain-
TIMP2-
-
-
-
4Gain-
TINF2-
-
-
-
3Gain-
TIPIN-
-
-
-
3Gain-
TIPRL-
-
-
-
3Gain-
TJP1-
-
-
-
3Gain-
TK1-
-
-
-
4Gain-
TLDC2-
-
-
-
3Gain-
TLE3-
-
-
-
3Gain-
TLE4p.R600H
Missense
SNP
0.171
2--
TLK2-
-
-
-
8Amp-
TLN1-
-
-
-
1Loss-
TLN2-
-
-
-
3Gain-
TLNRD1-
-
-
-
3Gain-
TLR1-
-
-
-
1Loss-
TLR10-
-
-
-
1Loss-
TLR5-
-
-
-
3Gain-
TLR6p.S249P
Missense
SNP
0.073
1Loss-
TM2D2-
-
-
-
1Loss-
TM2D3-
-
-
-
3Gain-
TM6SF1-
-
-
-
3Gain-
TM9SF1-
-
-
-
3Gain-
TM9SF4-
-
-
-
3Gain-
TMBIM6-
-
-
-
2-CSKMT--TMBIM6
TMC3-
-
-
-
3Gain-
TMC6-
-
-
-
4Gain-
TMC8-
-
-
-
4Gain-
TMCC2-
-
-
-
3Gain-
TMCO1-
-
-
-
3Gain-
TMCO5A-
-
-
-
3Gain-
TMED10-
-
-
-
3Gain-
TMED3-
-
-
-
3Gain-
TMED8-
-
-
-
3Gain-
TMEM100-
-
-
-
4Gain-
TMEM104-
-
-
-
4Gain-
TMEM105-
-
-
-
4Gain-
TMEM121-
-
-
-
3Gain-
TMEM128-
-
-
-
1Loss-
TMEM129-
-
-
-
1Loss-
TMEM132Cp.R176*
Nonsense
SNP
0.916
2--
TMEM132E-
-
-
-
6Amp-
TMEM156-
-
-
-
1Loss-
TMEM175-
-
-
-
1Loss-
TMEM176Ap.T208A
Missense
SNP
0.084
2--
TMEM179-
-
-
-
3Gain-
TMEM183A-
-
-
-
3Gain-
TMEM189-
-
-
-
3Gain-
TMEM189-UBE2V1-
-
-
-
3Gain-
TMEM202-
-
-
-
3Gain-
TMEM206-
-
-
-
3Gain-
TMEM215-
-
-
-
1Loss-
TMEM229B-
-
-
-
3Gain-
TMEM235-
-
-
-
4Gain-
TMEM249-
-
-
-
3Gain-
TMEM251-
-
-
-
3Gain-
TMEM253-
-
-
-
3Gain-
TMEM260-
-
-
-
3Gain-
TMEM266-
-
-
-
3Gain-
TMEM30B-
-
-
-
3Gain-
TMEM33-
-
-
-
3Gain-
TMEM62-
-
-
-
3Gain-
TMEM63A-
-
-
-
3Gain-
TMEM63C-
-
-
-
3Gain-
TMEM64-
-
-
-
3Gain-
TMEM65-
-
-
-
3Gain-
TMEM67-
-
-
-
3Gain-
TMEM68-
-
-
-
1Loss-
TMEM70-
-
-
-
3Gain-
TMEM71-
-
-
-
3Gain-
TMEM74-
-
-
-
3Gain-
TMEM79-
-
-
-
3Gain-
TMEM81-
-
-
-
3Gain-
TMEM87A-
-
-
-
3Gain-
TMEM8B-
-
-
-
1Loss-
TMEM9-
-
-
-
3Gain-
TMEM92-
-
-
-
4Gain-
TMEM94-
-
-
-
4Gain-
TMEM99-
-
-
-
6Amp-
TMOD2-
-
-
-
3Gain-
TMOD3-
-
-
-
3Gain-
TMOD4-
-
-
-
3Gain-
TMX1-
-
-
-
3Gain-
TNFAIP2-
-
-
-
3Gain-
TNFAIP8L2-
-
-
-
3Gain-
TNFAIP8L3-
-
-
-
3Gain-
TNFRSF10A-
-
-
-
1Loss-
TNFRSF10B-
-
-
-
1Loss-
TNFRSF10C-
-
-
-
1Loss-
TNFRSF10D-
-
-
-
1Loss-
TNFRSF11Ap.A192V
Missense
SNP
0.065
2--
TNFRSF11B-
-
-
-
3Gain-
TNFRSF6B-
-
-
-
3Gain-
TNFSF18-
-
-
-
3Gain-
TNFSF4-
-
-
-
3Gain-
TNIP2-
-
-
-
1Loss-
TNKS-
-
-
-
1Loss-
TNN-
-
-
-
3Gain-
TNNC2-
-
-
-
3Gain-
TNNI1-
-
-
-
3Gain-
TNNT2-
-
-
-
3Gain-
TNR-
-
-
-
3Gain-
TNRC6C-
-
-
-
4Gain-
TNS4-
-
-
-
6Amp-
TOB1-
-
-
-
4Gain-
TOGARAM1-
-
-
-
3Gain-
TOM1L1-
-
-
-
4Gain-
TOMM20-
-
-
-
3Gain-
TOMM20L-
-
-
-
3Gain-
TOMM34-
-
-
-
3Gain-
TOMM40L-
-
-
-
3Gain-
TOMM5-
-
-
-
1Loss-
TONSL-
-
-
-
3Gain-
TOP1-
-
-
-
3Gain-
TOP1MT-
-
-
-
3Gain-
TOP2A-
-
-
-
6Amp-
TOPORS-
-
-
-
1Loss-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR3A-
-
-
-
3Gain-
TOX-
-
-
-
1Loss-
TOX2-
-
-
-
3Gain-
TOX4-
-
-
-
3Gain-
TP53p.S46C
Missense
SNP
0.302
2--
TP53BP1-
-
-
-
3Gain-
TP53BP2-
-
-
-
3Gain-
TP53INP1-
-
-
-
3Gain-
TP53INP2-
-
-
-
3Gain-
TP53RK-
-
-
-
3Gain-
TP53TG5-
-
-
-
3Gain-
TPD52-
-
-
-
3Gain-
TPD52L2-
-
-
-
3Gain-
TPD52L3-
-
-
-
1Loss-
TPM1-
-
-
-
3Gain-
TPM2-
-
-
-
1Loss-
TPM3-
-
-
-
3Gain-
TPPP2-
-
-
-
3Gain-
TPR-
-
-
-
3Gain-
TPX2-
-
-
-
3Gain-
TRAF3-
-
-
-
3Gain-
TRAF3IP1p.K295N
Missense
SNP
0.056
2--
TRAF3IP3-
-
-
-
3Gain-
TRAF5-
-
-
-
3Gain-
TRAM1-
-
-
-
3Gain-
TRAPPC6B-
-
-
-
3Gain-
TRAPPC9-
-
-
-
3Gain-
TRDV1-
-
-
-
3Gain-
TRHR-
-
-
-
3Gain-
TRIB1-
-
-
-
3Gain-
TRIM11-
-
-
-
3Gain-
TRIM17-
-
-
-
3Gain-
TRIM25-
-
-
-
4Gain-
TRIM35-
-
-
-
1Loss-
TRIM37-
-
-
-
4Gain-
TRIM46-
-
-
-
3Gain-
TRIM47-
-
-
-
4Gain-
TRIM55-
-
-
-
1Loss-
TRIM58-
-
-
-
3Gain-
TRIM65-
-
-
-
4Gain-
TRIM67-
-
-
-
3Gain-
TRIM69-
-
-
-
3Gain-
TRIM9-
-
-
-
3Gain-
TRIP11-
-
-
-
3Gain-
TRIP4-
-
-
-
3Gain-
TRIQK-
-
-
-
3Gain-
TRMT10B-
-
-
-
1Loss-
TRMT12-
-
-
-
3Gain-
TRMT1L-
-
-
-
3Gain-
TRMT44-
-
-
-
1Loss-
TRMT5-
-
-
-
3Gain-
TRMT61A-
-
-
-
3Gain-
TRMT9B-
-
-
-
1Loss-
TROVE2-
-
-
-
3Gain-
TRPA1-
-
-
-
3Gain-
TRPC4AP-
-
-
-
3Gain-
TRPM1-
-
-
-
3Gain-
TRPM7-
-
-
-
3Gain-
TRPS1-
-
-
-
3Gain-
TSACC-
-
-
-
3Gain-
TSEN15-
-
-
-
3Gain-
TSEN54-
-
-
-
4Gain-
TSHR-
-
-
-
3Gain-
TSHZ2-
-
-
-
3Gain-
TSNARE1-
-
-
-
3Gain-
TSNAX-
-
-
-
3Gain-
TSNAX-DISC1-
-
-
-
3Gain-
TSPAN10-
-
-
-
4Gain-
TSPAN3-
-
-
-
3Gain-
TSPOAP1-
-
-
-
4Gain-
TSPYL1p.A181T
Missense
SNP
0.053
2--
TSPYL5-
-
-
-
3Gain-
TSSK4-
-
-
-
3Gain-
TSTA3-
-
-
-
3Gain-
TSTD1-
-
-
-
3Gain-
TTBK2-
-
-
-
3Gain-
TTC13-
-
-
-
3Gain-
TTC23-
-
-
-
3Gain-
TTC24-
-
-
-
3Gain-
TTC25-
-
-
-
3Gain-
TTC39B-
-
-
-
1Loss-
TTC5-
-
-
-
3Gain-
TTC6-
-
-
-
3Gain-
TTC7B-
-
-
-
3Gain-
TTC8-
-
-
-
3Gain-
TTC9-
-
-
-
3Gain-
TTI1-
-
-
-
3Gain-
TTI2-
-
-
-
1Loss-
TTLL13P-
-
-
-
3Gain-
TTLL5-
-
-
-
3Gain-
TTLL9-
-
-
-
3Gain-
TTNp.R34246G
Missense
SNP
0.207
2--
TTPA-
-
-
-
1Loss-
TTPAL-
-
-
-
3Gain-
TTYH2-
-
-
-
4Gain-
TUBB1-
-
-
-
3Gain-
TUBD1-
-
-
-
4Gain-
TUBG1-
-
-
-
3Gain-
TUBG2-
-
-
-
3Gain-
TUBGCP4-
-
-
-
3Gain-
TUBGCP5-
-
-
-
3Gain-
TUFT1-
-
-
-
3Gain-
TUSC1-
-
-
-
1Loss-
TUSC3-
-
-
-
1Loss-
TXK-
-
-
-
1Loss-
TXNDC16-
-
-
-
3Gain-
TXNDC2p.G357D
Missense
SNP
0.055
2--
TXNIP-
-
-
-
3Gain-
TYRO3-
-
-
-
3Gain-
TYRP1-
-
-
-
1Loss-
UACA-
-
-
-
3Gain-
UAP1-
-
-
-
3Gain-
UBALD2-
-
-
-
4Gain-
UBAP1-
-
-
-
1Loss-
UBAP1L-
-
-
-
3Gain-
UBAP2-
-
-
-
1Loss-
UBAP2L-
-
-
-
3Gain-
UBE2C-
-
-
-
3Gain-
UBE2K-
-
-
-
1Loss-
UBE2O-
-
-
-
4Gain-
UBE2Q1-
-
-
-
3Gain-
UBE2Q2-
-
-
-
3Gain-
UBE2Q2L-
-
-
-
3Gain-
UBE2R2-
-
-
-
1Loss-
UBE2T-
-
-
-
3Gain-
UBE2V1-
-
-
-
3Gain-
UBE2V2-
-
-
-
1Loss-
UBE2W-
-
-
-
3Gain-
UBE3A-
-
-
-
3Gain-
UBL7-
-
-
-
3Gain-
UBQLN4-
-
-
-
3Gain-
UBR1-
-
-
-
3Gain-
UBR5-
-
-
-
3Gain-
UBR7-
-
-
-
3Gain-
UBXN2B-
-
-
-
1Loss-
UBXN8-
-
-
-
1Loss-
UCHL1-
-
-
-
3Gain-
UCHL5-
-
-
-
3Gain-
UCK2-
-
-
-
3Gain-
UCKL1-
-
-
-
3Gain-
UFC1-
-
-
-
3Gain-
UGDH-
-
-
-
1Loss-
UHMK1-
-
-
-
3Gain-
UHRF2-
-
-
-
1Loss-
ULK1p.P714L
Missense
SNP
0.088
2--
ULK3-
-
-
-
3Gain-
UNC13B-
-
-
-
1Loss-
UNC13C-
-
-
-
3Gain-
UNC13D-
-
-
-
4Gain-
UNC45A-
-
-
-
3Gain-
UNC45B-
-
-
-
6Amp-
UNC5D-
-
-
-
1Loss-
UNC79-
-
-
-
3Gain-
UNK-
-
-
-
4Gain-
UQCC1-
-
-
-
3Gain-
UQCRB-
-
-
-
3Gain-
URB2-
-
-
-
3Gain-
USF1-
-
-
-
3Gain-
USH1G-
-
-
-
4Gain-
USH2Ap.I2169T
Missense
SNP
0.100
3Gain-
USP17L13-
-
-
-
1Loss-
USP17L17-
-
-
-
1Loss-
USP17L18-
-
-
-
1Loss-
USP21-
-
-
-
3Gain-
USP3-
-
-
-
3Gain-
USP32-
-
-
-
4Gain-
USP36-
-
-
-
4Gain-
USP50-
-
-
-
3Gain-
USP8-
-
-
-
3Gain-
UTP18-
-
-
-
4Gain-
UTP23-
-
-
-
3Gain-
UTP25-
-
-
-
3Gain-
UTS2R-
-
-
-
4Gain-
UVSSA-
-
-
-
1Loss-
VAMP4-
-
-
-
3Gain-
VANGL2-
-
-
-
3Gain-
VAPB-
-
-
-
3Gain-
VASH1-
-
-
-
3Gain-
VASH2-
-
-
-
3Gain-
VCP-
-
-
-
1Loss-
VCPIP1-
-
-
-
1Loss-
VCPKMT-
-
-
-
3Gain-
VDAC3-
-
-
-
1Loss-
VEZF1-
-
-
-
4Gain-
VHLL-
-
-
-
3Gain-
VIPAS39-
-
-
-
3Gain-
VIRMA-
-
-
-
3Gain-
VLDLR-
-
-
-
1Loss-
VMP1-
-
-
-
4Gain-
VPS13B-
-
-
-
3Gain-
VPS13C-
-
-
-
1Loss-
VPS18-
-
-
-
3Gain-
VPS25-
-
-
-
3Gain-
VPS28-
-
-
-
3Gain-
VPS33B-
-
-
-
3Gain-
VPS37A-
-
-
-
1Loss-
VPS39-
-
-
-
3Gain-
VPS45-
-
-
-
3Gain-
VPS72-
-
-
-
3Gain-
VRK1-
-
-
-
3Gain-
VRTN-
-
-
-
3Gain-
VSIG8-
-
-
-
3Gain-
VSTM2L-
-
-
-
3Gain-
VSX2-
-
-
-
3Gain-
VTI1B-
-
-
-
3Gain-
VXN-
-
-
-
1Loss-
WARS-
-
-
-
3Gain-
WASHC5-
-
-
-
3Gain-
WBP2-
-
-
-
4Gain-
WDHD1-
-
-
-
3Gain-
WDR1-
-
-
-
1Loss-
WDR19-
-
-
-
1Loss-
WDR20-
-
-
-
3Gain-
WDR25-
-
-
-
3Gain-
WDR26-
-
-
-
3Gain-
WDR35p.E983G
Missense
SNP
0.147
2--
WDR45B-
-
-
-
4Gain-
WDR61-
-
-
-
3Gain-
WDR64-
-
-
-
3Gain-
WDR72-
-
-
-
3Gain-
WDR73-
-
-
-
3Gain-
WDR76-
-
-
-
3Gain-
WDR89-
-
-
-
3Gain-
WDR93-
-
-
-
3Gain-
WDR97-
-
-
-
3Gain-
WDYHV1p.I32V
Missense
SNP
0.138
3Gain-
WFDC10A-
-
-
-
3Gain-
WFDC10B-
-
-
-
3Gain-
WFDC11-
-
-
-
3Gain-
WFDC12-
-
-
-
3Gain-
WFDC13-
-
-
-
3Gain-
WFDC2-
-
-
-
3Gain-
WFDC3-
-
-
-
3Gain-
WFDC5-
-
-
-
3Gain-
WFDC6-
-
-
-
3Gain-
WFDC8-
-
-
-
3Gain-
WFDC9-
-
-
-
3Gain-
WFIKKN2-
-
-
-
4Gain-
WFS1-
-
-
-
1Loss-
WHAMM-
-
-
-
3Gain-
WIPF2-
-
-
-
6Amp-
WIPI1-
-
-
-
4Gain-
WISP1-
-
-
-
3Gain-
WISP2-
-
-
-
3Gain-
WNK4-
-
-
-
3Gain-
WNT16p.T263I
Missense
SNP
0.062
2--
WNT3A-
-
-
-
3Gain-
WNT9A-
-
-
-
3Gain-
WRN-
-
-
-
1Loss-
WWP1-
-
-
-
3Gain-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XKR4-
-
-
-
1Loss-
XKR5-
-
-
-
1Loss-
XKR6-
-
-
-
1Loss-
XKR7-
-
-
-
3Gain-
XKR9-
-
-
-
3Gain-
XPO7-
-
-
-
1Loss-
XPR1-
-
-
-
3Gain-
XRCC3-
-
-
-
3Gain-
XYLT2-
-
-
-
4Gain-
YLPM1-
-
-
-
3Gain-
YOD1-
-
-
-
3Gain-
YPEL2-
-
-
-
4Gain-
YTHDF1-
-
-
-
3Gain-
YTHDF3-
-
-
-
1Loss-
YWHAB-
-
-
-
3Gain-
YWHAZ-
-
-
-
3Gain-
YY1-
-
-
-
3Gain-
YY1AP1-
-
-
-
3Gain-
Z98752.3-
-
-
-
3Gain-
ZACN-
-
-
-
4Gain-
ZAR1-
-
-
-
1Loss-
ZBED6-
-
-
-
3Gain-
ZBP1-
-
-
-
3Gain-
ZBTB1-
-
-
-
3Gain-
ZBTB10-
-
-
-
3Gain-
ZBTB18-
-
-
-
3Gain-
ZBTB25-
-
-
-
3Gain-
ZBTB37-
-
-
-
3Gain-
ZBTB41-
-
-
-
3Gain-
ZBTB42-
-
-
-
3Gain-
ZBTB46-
-
-
-
3Gain-
ZBTB49-
-
-
-
1Loss-
ZBTB5-
-
-
-
1Loss-
ZBTB7B-
-
-
-
3Gain-
ZC2HC1A-
-
-
-
3Gain-
ZC2HC1C-
-
-
-
3Gain-
ZC3H11A-
-
-
-
3Gain-
ZC3H14-
-
-
-
3Gain-
ZC3H3-
-
-
-
3Gain-
ZCCHC4-
-
-
-
1Loss-
ZCCHC7-
-
-
-
1Loss-
ZDHHC2-
-
-
-
1Loss-
ZDHHC21-
-
-
-
1Loss-
ZDHHC22-
-
-
-
3Gain-
ZFAND1-
-
-
-
3Gain-
ZFAND6-
-
-
-
3Gain-
ZFAT-
-
-
-
3Gain-
ZFHX2-
-
-
-
3Gain-
ZFHX4-
-
-
-
3Gain-
ZFP36L1-
-
-
-
3Gain-
ZFP41-
-
-
-
3Gain-
ZFP64-
-
-
-
3Gain-
ZFPM2-
-
-
-
3Gain-
ZFYVE1-
-
-
-
3Gain-
ZFYVE19-
-
-
-
3Gain-
ZFYVE21-
-
-
-
3Gain-
ZFYVE26-
-
-
-
3Gain-
ZFYVE28-
-
-
-
1Loss-
ZGPAT-
-
-
-
3Gain-
ZHX1-
-
-
-
3Gain-
ZHX1-C8orf76-
-
-
-
3Gain-
ZHX2-
-
-
-
3Gain-
ZHX3-
-
-
-
3Gain-
ZMAT4-
-
-
-
1Loss-
ZMYND8-
-
-
-
3Gain-
ZNF106-
-
-
-
3Gain-
ZNF124-
-
-
-
3Gain-
ZNF141-
-
-
-
1Loss-
ZNF16-
-
-
-
3Gain-
ZNF217-
-
-
-
3Gain-
ZNF219-
-
-
-
3Gain-
ZNF250-
-
-
-
3Gain-
ZNF251-
-
-
-
3Gain-
ZNF280D-
-
-
-
1Loss-
ZNF281-
-
-
-
3Gain-
ZNF334-
-
-
-
3Gain-
ZNF335-
-
-
-
3Gain-
ZNF34-
-
-
-
3Gain-
ZNF341-
-
-
-
3Gain-
ZNF385C-
-
-
-
3Gain-
ZNF395-
-
-
-
1Loss-
ZNF410-
-
-
-
3Gain-
ZNF468p.G477R
Missense
SNP
0.061
2--
ZNF496-
-
-
-
3Gain-
ZNF512B-
-
-
-
3Gain-
ZNF517-
-
-
-
3Gain-
ZNF518B-
-
-
-
1Loss-
ZNF572-
-
-
-
3Gain-
ZNF592-
-
-
-
3Gain-
ZNF595-
-
-
-
1Loss-
ZNF596-
-
-
-
1Loss-
ZNF609-
-
-
-
3Gain-
ZNF623-
-
-
-
3Gain-
ZNF648-
-
-
-
3Gain-
ZNF669-
-
-
-
3Gain-
ZNF670-
-
-
-
3Gain-
ZNF670-ZNF695-
-
-
-
3Gain-
ZNF672-
-
-
-
3Gain-
ZNF678-
-
-
-
3Gain-
ZNF687-
-
-
-
3Gain-
ZNF692-
-
-
-
3Gain-
ZNF695-
-
-
-
3Gain-
ZNF696-
-
-
-
3Gain-
ZNF7-
-
-
-
3Gain-
ZNF703-
-
-
-
1Loss-
ZNF704-
-
-
-
3Gain-
ZNF706-
-
-
-
3Gain-
ZNF707-
-
-
-
3Gain-
ZNF710-
-
-
-
3Gain-
ZNF718-
-
-
-
1Loss-
ZNF721-
-
-
-
1Loss-
ZNF732-
-
-
-
1Loss-
ZNF750-
-
-
-
4Gain-
ZNF761p.G528S
p.E603Q
Missense
Missense
SNP
SNP
0.062
0.092
2--
ZNF770-
-
-
-
3Gain-
ZNF774-
-
-
-
3Gain-
ZNF777p.V115A
Missense
SNP
0.091
2--
ZNF830-
-
-
-
6Amp-
ZNF831-
-
-
-
3Gain-
ZNF839-
-
-
-
3Gain-
ZNFX1-
-
-
-
3Gain-
ZNRF4p.A157S
p.V159A
p.R163C
Missense
Missense
Missense
SNP
SNP
SNP
0.072
0.080
0.052
2--
ZP4-
-
-
-
3Gain-
ZPBP2-
-
-
-
6Amp-
ZSCAN2-
-
-
-
3Gain-
ZSCAN29-
-
-
-
3Gain-
ZSWIM1-
-
-
-
3Gain-
ZSWIM3-
-
-
-
3Gain-
ZWILCH-
-
-
-
3Gain-