PDMR-891866~317-R~AR2E10M82M831E07-P4

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A3GALT2-
-
-
-
3Gain-
A4GNT-
-
-
-
3Gain-
AAASp.Q41*
Nonsense
SNP
0.347
2--
AADAC-
-
-
-
3Gain-
AADACL2-
-
-
-
3Gain-
AADACL3-
-
-
-
3Gain-
AADACL4-
-
-
-
3Gain-
AANAT-
-
-
-
3Gain-
ABCA10-
-
-
-
3Gain-
ABCA3-
-
-
-
1Loss-
ABCA4p.E1814K
Missense
SNP
0.068
6Amp-
ABCA5-
-
-
-
3Gain-
ABCA6-
-
-
-
3Gain-
ABCA8-
-
-
-
3Gain-
ABCA9-
-
-
-
3Gain-
ABCC1-
-
-
-
6Amp-
ABCC11p.R614W
Missense
SNP
0.505
2--
ABCC12p.G1068R
p.D98N
Missense
Missense
SNP
SNP
0.504
0.202
2--
ABCC2p.R529W
Missense
SNP
0.166
2--
ABCC4-
-
-
-
1Loss-
ABCC5-
-
-
-
3Gain-
ABCC6-
-
-
-
6Amp-
ABCC8p.R275Q
Missense
SNP
0.596
2--
ABCD3-
-
-
-
6Amp-
ABCF3-
-
-
-
3Gain-
ABCG2-
-
-
-
1Loss-
ABHD10-
-
-
-
3Gain-
ABHD13-
-
-
-
1Loss-
ABHD16B-
-
-
-
3Gain-
ABHD17C-
-
-
-
1Loss-
ABHD3-
-
-
-
3Gain-
ABI3BP-
-
-
-
3Gain-
ABLIM2-
-
-
-
1Loss-
ABR-
-
-
-
3Gain-
ABRAXAS1-
-
-
-
1Loss-
ABTB1-
-
-
-
3Gain-
AC001226.2-
-
-
-
1Loss-
AC002310.4-
-
-
-
1Loss-
AC002310.5-
-
-
-
1Loss-
AC003688.1-
-
-
-
3Gain-
AC004687.2-
-
-
-
3Gain-
AC004805.1-
-
-
-
3Gain-
AC005324.3-
-
-
-
3Gain-
AC005324.4-
-
-
-
3Gain-
AC005702.1-
-
-
-
3Gain-
AC005837.2-
-
-
-
3Gain-
AC006486.1-
-
-
-
3Gain-
AC007846.2-
-
-
-
3Gain-
AC007952.4-
-
-
-
NDNDAC007952.4--EIF6
AC007998.2-
-
-
-
1Loss-
AC008537.1-
-
-
-
3Gain-
AC008982.1-
-
-
-
3Gain-
AC009086.2-
-
-
-
1Loss-
AC009133.6-
-
-
-
1Loss-
AC009690.1-
-
-
-
1Loss-
AC009690.3-
-
-
-
1Loss-
AC010616.1-
-
-
-
3Gain-
AC010616.2-
-
-
-
3Gain-
AC011195.2-
-
-
-
3Gain-
AC011455.2-
-
-
-
3Gain-
AC011462.1-
-
-
-
3Gain-
AC011479.1-
-
-
-
3Gain-
AC012254.2-
-
-
-
1Loss-
AC012309.1-
-
-
-
3Gain-
AC013394.1-
-
-
-
3Gain-
AC015813.2-
-
-
-
3Gain-
AC020636.2-
-
-
-
3Gain-
AC020907.6-
-
-
-
3Gain-
AC021660.3-
-
-
-
3Gain-
AC025263.2-
-
-
-
3Gain-
AC025283.2-
-
-
-
1Loss-
AC025283.3-
-
-
-
1Loss-
AC026316.5-
-
-
-
3Gain-
AC026954.2-
-
-
-
3Gain-
AC027796.3-
-
-
-
3Gain-
AC046185.1-
-
-
-
3Gain-
AC055811.2-
-
-
-
3Gain-
AC068631.2-
-
-
-
3Gain-
AC068831.7-
-
-
-
3Gain-
AC069257.3-
-
-
-
3Gain-
AC069444.2-
-
-
-
3Gain-
AC079594.2-
-
-
-
3Gain-
AC083800.1-
-
-
-
3Gain-
AC087289.3-
-
-
-
3Gain-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC091551.1-
-
-
-
1Loss-
AC092073.1-
-
-
-
3Gain-
AC093155.3-
-
-
-
3Gain-
AC093227.2-
-
-
-
3Gain-
AC093423.3-
-
-
-
3Gain-
AC093512.2-
-
-
-
1Loss-
AC093525.1-
-
-
-
1Loss-
AC093525.2-
-
-
-
1Loss-
AC093827.5-
-
-
-
1Loss-
AC098484.3-
-
-
-
3Gain-
AC098582.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
3Gain-
AC099489.1-
-
-
-
6Amp-
AC099850.2-
-
-
-
3Gain-
AC104472.3-
-
-
-
3Gain-
AC104581.2-
-
-
-
3Gain-
AC106886.5-
-
-
-
1Loss-
AC112128.1-
-
-
-
3Gain-
AC112504.2-
-
-
-
3Gain-
AC113554.1-
-
-
-
3Gain-
AC114490.2-
-
-
-
6Amp-
AC114490.3-
-
-
-
6Amp-
AC117457.1-
-
-
-
3Gain-
AC118549.1-
-
-
-
3Gain-
AC118553.2-
-
-
-
6Amp-
AC119674.2-
-
-
-
3Gain-
AC120057.2-
-
-
-
3Gain-
AC120114.4-
-
-
-
1Loss-
AC127029.3-
-
-
-
3Gain-
AC129492.3-
-
-
-
3Gain-
AC131160.1-
-
-
-
3Gain-
AC135050.2-
-
-
-
1Loss-
AC135178.2-
-
-
-
3Gain-
AC136428.1-
-
-
-
1Loss-
AC138811.2-
-
-
-
6Amp-
AC138894.1-
-
-
-
1Loss-
AC140504.1-
-
-
-
6Amp-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
AC243967.1-
-
-
-
3Gain-
AC245033.1-
-
-
-
1Loss-
ACAA2-
-
-
-
1Loss-
ACACBp.E656K
Missense
SNP
0.259
2--
ACAD11-
-
-
-
3Gain-
ACAD9-
-
-
-
3Gain-
ACADM-
-
-
-
3Gain-
ACADVL-
-
-
-
3Gain-
ACAP1-
-
-
-
3Gain-
ACAP2-
-
-
-
3Gain-
ACAP3-
-
-
-
3Gain-
ACE-
-
-
-
3Gain-
ACER3p.H145Y
Missense
SNP
0.362
2--
ACKR4-
-
-
-
3Gain-
ACOD1-
-
-
-
1Loss-
ACOT11-
-
-
-
3Gain-
ACOT7-
-
-
-
3Gain-
ACOX1-
-
-
-
3Gain-
ACOX3-
-
-
-
1Loss-
ACP6-
-
-
-
3Gain-
ACP7-
-
-
-
3Gain-
ACPP-
-
-
-
3Gain-
ACSBG1-
-
-
-
1Loss-
ACSM1-
-
-
-
1Loss-
ACSM2Ap.E88K
Missense
SNP
0.252
1Loss-
ACSM2B-
-
-
-
1Loss-
ACSM3-
-
-
-
1Loss-
ACSM5-
-
-
-
1Loss-
ACTL6A-
-
-
-
3Gain-
ACTL8-
-
-
-
3Gain-
ACTN4-
-
-
-
3Gain-
ACTR5p.P131S
Missense
SNP
0.423
2--
ACTRT1p.R119*
Nonsense
SNP
0.840
NDND-
ACTRT2-
-
-
-
3Gain-
ACTRT3-
-
-
-
3Gain-
AD000671.1-
-
-
-
3Gain-
AD000671.2-
-
-
-
3Gain-
ADAM21p.D278N
Missense
SNP
0.469
2--
ADAM23p.S746L
Missense
SNP
0.500
2--
ADAM29p.L90F
Missense
SNP
0.565
2--
ADAM30-
-
-
-
5Amp-
ADAM8-
-
-
-
1Loss-
ADAMTS17-
-
-
-
3Gain-
ADAMTS3-
-
-
-
1Loss-
ADAMTS7-
-
-
-
1Loss-
ADAMTSL3-
-
-
-
1Loss-
ADAMTSL4-
-
-
-
3Gain-
ADAT2-
-
-
-
5Amp-
ADCY5-
-
-
-
3Gain-
ADCY9-
-
-
-
1Loss-
ADGRA1-
-
-
-
1Loss-
ADGRB2-
-
-
-
3Gain-
ADGRF5p.D495N
Missense
SNP
0.452
2--
ADGRG7-
-
-
-
3Gain-
ADGRL2-
-
-
-
3Gain-
ADGRL4-
-
-
-
3Gain-
ADGRV1p.G203E
Missense
SNP
0.351
2--
ADH1A-
-
-
-
1Loss-
ADH1B-
-
-
-
1Loss-
ADH1C-
-
-
-
1Loss-
ADH4-
-
-
-
1Loss-
ADH5-
-
-
-
1Loss-
ADH6-
-
-
-
1Loss-
ADH7-
-
-
-
1Loss-
ADIPOQ-
-
-
-
3Gain-
ADNP-
-
-
-
3Gain-
ADNP2-
-
-
-
1Loss-
ADORA2B-
-
-
-
3Gain-
ADORA3-
-
-
-
5Amp-
ADPGK-
-
-
-
1Loss-
ADPRH-
-
-
-
3Gain-
ADPRHL1-
-
-
-
1Loss-
ADPRHL2-
-
-
-
6Amp-
ADPRM-
-
-
-
3Gain-
ADRM1-
-
-
-
3Gain-
AFAP1-
-
-
-
1Loss-
AFF1-
-
-
-
1Loss-
AFG3L2-
-
-
-
3Gain-
AFM-
-
-
-
1Loss-
AFMID-
-
-
-
3Gain-
AFP-
-
-
-
1Loss-
AGBL4-
-
-
-
3Gain-
AGL-
-
-
-
6Amp-
AGMATp.R95C
Missense
SNP
0.294
3Gain-
AGO1-
-
-
-
6Amp-
AGO2p.R126C
Missense
SNP
0.480
2--
AGO3-
-
-
-
6Amp-
AGO4-
-
-
-
6Amp-
AGRN-
-
-
-
3Gain-
AGTR1-
-
-
-
3Gain-
AGTRAP-
-
-
-
3Gain-
AHCYL1-
-
-
-
5Amp-
AHDC1-
-
-
-
3Gain-
AHSG-
-
-
-
3Gain-
AHSP-
-
-
-
1Loss-
AIG1-
-
-
-
5Amp-
AIPL1-
-
-
-
3Gain-
AJAP1-
-
-
-
3Gain-
AK2-
-
-
-
3Gain-
AK4-
-
-
-
3Gain-
AK5-
-
-
-
3Gain-
AKAIN1-
-
-
-
3Gain-
AKAP1-
-
-
-
3Gain-
AKAP10-
-
-
-
3Gain-
AKAP11-
-
-
-
1Loss-
AKAP12-
-
-
-
4Gain-
AKAP3p.E740K
Missense
SNP
0.364
2--
AKAP6p.E837K
Missense
SNP
0.366
2--
AKAP7-
-
-
-
3Gain-
AKIRIN1-
-
-
-
3Gain-
AKNAD1-
-
-
-
5Amp-
AKR1A1-
-
-
-
3Gain-
AKR7A2-
-
-
-
3Gain-
AKR7A3-
-
-
-
3Gain-
AKR7L-
-
-
-
3Gain-
AKT2-
-
-
-
3Gain-
AL020996.2-
-
-
-
3Gain-
AL031281.2-
-
-
-
3Gain-
AL033529.1-
-
-
-
3Gain-
AL049557.1-
-
-
-
5Amp-
AL049844.1-
-
-
-
5Amp-
AL049844.3-
-
-
-
5Amp-
AL080251.1-
-
-
-
3Gain-
AL109811.4-
-
-
-
3Gain-
AL121845.2-
-
-
-
3Gain-
AL121845.3-
-
-
-
3Gain-
AL159163.1-
-
-
-
4Gain-
AL162377.3-
-
-
-
1Loss-
AL355312.5-
-
-
-
4Gain-
AL357673.1-
-
-
-
3Gain-
AL358075.4-
-
-
-
3Gain-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL359736.1-
-
-
-
1Loss-
AL360181.3-
-
-
-
1Loss-
AL365214.3-
-
-
-
3Gain-
AL365232.1-
-
-
-
5Amp-
AL445685.3-
-
-
-
3Gain-
AL449266.1-
-
-
-
5Amp-
AL451062.3-
-
-
-
3Gain-
AL512506.3-
-
-
-
1Loss-
AL592490.1-
-
-
-
1Loss-
AL603832.3-
-
-
-
5Amp-
AL672043.1-
-
-
-
3Gain-
ALB-
-
-
-
1Loss-
ALCAM-
-
-
-
3Gain-
ALDH1A3-
-
-
-
3Gain-
ALDH1L1-
-
-
-
3Gain-
ALDH3A1-
-
-
-
3Gain-
ALDH3A2-
-
-
-
3Gain-
ALDH4A1-
-
-
-
3Gain-
ALDOA-
-
-
-
1Loss-
ALG1-
-
-
-
1Loss-
ALG11-
-
-
-
1Loss-
ALG14-
-
-
-
6Amp-
ALG1L2-
-
-
-
3Gain-
ALG3-
-
-
-
3Gain-
ALG5-
-
-
-
1Loss-
ALG6-
-
-
-
3Gain-
ALKp.P294S
Missense
SNP
0.411
2--
ALKBH5-
-
-
-
3Gain-
ALKBH6-
-
-
-
3Gain-
ALOX12-
-
-
-
3Gain-
ALOX12Bp.E539K
Missense
SNP
0.600
3Gain-
ALOX15-
-
-
-
3Gain-
ALOX15B-
-
-
-
3Gain-
ALOX5AP-
-
-
-
1Loss-
ALOXE3-
-
-
-
3Gain-
ALPK2-
-
-
-
1Loss-
ALPK3-
-
-
-
1Loss-
ALPL-
-
-
-
3Gain-
ALS2CLp.G443E
Missense
SNP
0.405
2--
ALX3-
-
-
-
5Amp-
AMD1-
-
-
-
3Gain-
AMDHD1-
-
-
-
3Gain-
AMDHD2-
-
-
-
1Loss-
AMER2-
-
-
-
1Loss-
AMIGO1-
-
-
-
5Amp-
AMOTL2-
-
-
-
3Gain-
AMPD1-
-
-
-
5Amp-
AMPD2-
-
-
-
5Amp-
AMPHp.R134C
Missense
SNP
0.343
2--
AMY1A-
-
-
-
5Amp-
AMY1B-
-
-
-
5Amp-
AMY1C-
-
-
-
5Amp-
AMY2A-
-
-
-
5Amp-
AMY2B-
-
-
-
5Amp-
AMZ2-
-
-
-
3Gain-
ANAPC13-
-
-
-
3Gain-
ANGEL2p.G10S
Missense
SNP
0.512
2--
ANGPTL3-
-
-
-
3Gain-
ANGPTL7-
-
-
-
3Gain-
ANK1p.R1477*
Nonsense
SNP
0.313
2--
ANK3p.E3381K
Missense
SNP
0.329
2--
ANKFN1-
-
-
-
3Gain-
ANKFY1-
-
-
-
3Gain-
ANKRD10-
-
-
-
1Loss-
ANKRD12-
-
-
-
3Gain-
ANKRD13C-
-
-
-
3Gain-
ANKRD17-
-
-
-
1Loss-
ANKRD27-
-
-
-
3Gain-
ANKRD29-
-
-
-
3Gain-
ANKRD30Ap.H212Y
Missense
SNP
0.529
2--
ANKRD30B-
-
-
-
3Gain-
ANKRD34A-
-
-
-
3Gain-
ANKRD34C-
-
-
-
1Loss-
ANKRD35-
-
-
-
3Gain-
ANKRD60-
-
-
-
3Gain-
ANKRD62-
-
-
-
3Gain-
ANKRD65-
-
-
-
3Gain-
ANKS3-
-
-
-
1Loss-
ANKS4B-
-
-
-
1Loss-
ANKUB1-
-
-
-
3Gain-
ANP32E-
-
-
-
3Gain-
ANTXR2-
-
-
-
1Loss-
ANXA3-
-
-
-
1Loss-
ANXA9-
-
-
-
3Gain-
AP2M1-
-
-
-
3Gain-
AP3B2-
-
-
-
1Loss-
AP4B1-
-
-
-
5Amp-
APCDD1-
-
-
-
3Gain-
APCDD1L-
-
-
-
3Gain-
APH1A-
-
-
-
3Gain-
APLP1-
-
-
-
3Gain-
APOBp.G1701R
Missense
SNP
0.480
2--
APOBEC3Gp.S18F
Missense
SNP
0.511
2--
APOBR-
-
-
-
1Loss-
APOD-
-
-
-
3Gain-
APOH-
-
-
-
3Gain-
APPBP2-
-
-
-
3Gain-
AQP4-
-
-
-
1Loss-
AQP8-
-
-
-
1Loss-
AREG-
-
-
-
1Loss-
ARFGAP1-
-
-
-
3Gain-
ARFGEF2-
-
-
-
3Gain-
ARFRP1-
-
-
-
3Gain-
ARG1-
-
-
-
3Gain-
ARGFX-
-
-
-
3Gain-
ARGLU1-
-
-
-
1Loss-
ARHGAP17-
-
-
-
1Loss-
ARHGAP24-
-
-
-
1Loss-
ARHGAP26p.D573N
Missense
SNP
0.274
2--
ARHGAP28-
-
-
-
3Gain-
ARHGAP29-
-
-
-
6Amp-
ARHGAP31-
-
-
-
3Gain-
ARHGAP33-
-
-
-
3Gain-
ARHGAP44-
-
-
-
3Gain-
ARHGEF1-
-
-
-
3Gain-
ARHGEF10L-
-
-
-
3Gain-
ARHGEF15-
-
-
-
3Gain-
ARHGEF16-
-
-
-
3Gain-
ARHGEF19-
-
-
-
3Gain-
ARHGEF26-
-
-
-
3Gain-
ARHGEF7-
-
-
-
1Loss-
ARID1A-
-
-
-
3Gain-
ARID1Bp.P1904L
Missense
SNP
0.263
2--
ARID3B-
-
-
-
1Loss-
ARIH1-
-
-
-
1Loss-
ARL11-
-
-
-
1Loss-
ARL13B-
-
-
-
3Gain-
ARL14-
-
-
-
3Gain-
ARL6-
-
-
-
3Gain-
ARL6IP1-
-
-
-
6Amp-
ARMC5-
-
-
-
1Loss-
ARMC7-
-
-
-
3Gain-
ARMC8-
-
-
-
3Gain-
ARMC9p.S251F
Missense
SNP
0.402
2--
ARMH1-
-
-
-
3Gain-
ARMT1-
-
-
-
4Gain-
ARNT-
-
-
-
3Gain-
ARNT2-
-
-
-
1Loss-
ARRB2-
-
-
-
3Gain-
ARRDC4-
-
-
-
3Gain-
ARSG-
-
-
-
3Gain-
ARSHp.R125Q
Missense
SNP
0.929
NDND-
ART3-
-
-
-
1Loss-
ARTN-
-
-
-
3Gain-
ASAH2p.D370N
Missense
SNP
0.610
2--
ASAP3-
-
-
-
3Gain-
ASB17-
-
-
-
3Gain-
ASB7-
-
-
-
3Gain-
ASGR1-
-
-
-
3Gain-
ASGR2p.D289N
Missense
SNP
0.589
3Gain-
ASPA-
-
-
-
3Gain-
ASPHp.S439F
Missense
SNP
0.292
2--
ASPHD1-
-
-
-
1Loss-
ASTE1-
-
-
-
3Gain-
ASXL3p.S542F
Missense
SNP
0.449
1Loss-
ATAD3A-
-
-
-
3Gain-
ATAD3B-
-
-
-
3Gain-
ATAD3C-
-
-
-
3Gain-
ATF7IP2-
-
-
-
6Amp-
ATG2Ap.P658S
Missense
SNP
0.630
2--
ATG3-
-
-
-
3Gain-
ATG4C-
-
-
-
3Gain-
ATN1p.E816K
Missense
SNP
0.356
2--
ATOH1-
-
-
-
1Loss-
ATP10Bp.R1043Q
Missense
SNP
0.584
2--
ATP11A-
-
-
-
1Loss-
ATP11B-
-
-
-
3Gain-
ATP12A-
-
-
-
1Loss-
ATP13A2-
-
-
-
3Gain-
ATP13A3-
-
-
-
3Gain-
ATP13A4-
-
-
-
3Gain-
ATP13A5-
-
-
-
3Gain-
ATP1A1-
-
-
-
5Amp-
ATP1A3-
-
-
-
3Gain-
ATP1B2-
-
-
-
3Gain-
ATP1B3-
-
-
-
3Gain-
ATP2A1-
-
-
-
1Loss-
ATP2A3-
-
-
-
3Gain-
ATP2B1-
-
-
-
3Gain-
ATP2C1-
-
-
-
3Gain-
ATP4A-
-
-
-
3Gain-
ATP4B-
-
-
-
1Loss-
ATP5F1A-
-
-
-
1Loss-
ATP5F1E-
-
-
-
3Gain-
ATP5IF1-
-
-
-
3Gain-
ATP5PB-
-
-
-
5Amp-
ATP5PD-
-
-
-
3Gain-
ATP6V0B-
-
-
-
3Gain-
ATP6V0C-
-
-
-
1Loss-
ATP6V1A-
-
-
-
3Gain-
ATP7B-
-
-
-
1Loss-
ATP8A2-
-
-
-
1Loss-
ATP8B1-
-
-
-
1Loss-
ATP9A-
-
-
-
3Gain-
ATP9B-
-
-
-
1Loss-
ATPAF1-
-
-
-
3Gain-
ATPAF2-
-
-
-
3Gain-
ATR-
-
-
-
3Gain-
ATRIPp.S325L
Missense
SNP
0.525
2--
ATRNL1p.R1269*
Nonsense
SNP
0.578
2--
ATXN2L-
-
-
-
1Loss-
ATXN7L2-
-
-
-
5Amp-
ATXN7L3B-
-
-
-
3Gain-
AUNIP-
-
-
-
3Gain-
AURKA-
-
-
-
3Gain-
AURKAIP1-
-
-
-
3Gain-
AURKB-
-
-
-
3Gain-
AXIN2-
-
-
-
3Gain-
AXL-
-
-
-
3Gain-
AZIN2-
-
-
-
3Gain-
B3GALNT1-
-
-
-
3Gain-
B3GALT6-
-
-
-
3Gain-
B3GAT2-
-
-
-
3Gain-
B3GLCT-
-
-
-
1Loss-
B3GNT5-
-
-
-
3Gain-
B3GNT8-
-
-
-
3Gain-
B4GALT2-
-
-
-
3Gain-
B4GALT4-
-
-
-
3Gain-
B4GALT5-
-
-
-
3Gain-
B9D1-
-
-
-
3Gain-
B9D2-
-
-
-
3Gain-
BACE2p.L197F
Missense
SNP
0.374
2--
BANK1-
-
-
-
1Loss-
BARHL2-
-
-
-
3Gain-
BAXp.G103D
Missense
SNP
0.518
2--
BAZ2Bp.P1614L
Missense
SNP
0.470
2--
BBS10-
-
-
-
3Gain-
BBS4-
-
-
-
1Loss-
BBX-
-
-
-
3Gain-
BCAMp.P527S
Missense
SNP
0.350
2--
BCAR3-
-
-
-
6Amp-
BCAS1-
-
-
-
3Gain-
BCAS2-
-
-
-
5Amp-
BCAS4-
-
-
-
3Gain-
BCHE-
-
-
-
3Gain-
BCKDHA-
-
-
-
3Gain-
BCKDHB-
-
-
-
3Gain-
BCKDK-
-
-
-
1Loss-
BCL10-
-
-
-
3Gain-
BCL2-
-
-
-
1Loss-
BCL2A1-
-
-
-
1Loss-
BCL2L12p.R18W
Missense
SNP
0.557
2--
BCL2L15-
-
-
-
5Amp-
BCL6-
-
-
-
3Gain-
BCL6B-
-
-
-
3Gain-
BCL7C-
-
-
-
1Loss-
BCL9-
-
-
-
3Gain-
BCLAF1p.R145C
Missense
SNP
0.109
2--
BDH1-
-
-
-
3Gain-
BEND5-
-
-
-
3Gain-
BEST3-
-
-
-
3Gain-
BEST4-
-
-
-
3Gain-
BFAR-
-
-
-
6Amp-
BFSP2-
-
-
-
3Gain-
BHLHA9-
-
-
-
3Gain-
BHLHE23-
-
-
-
3Gain-
BICDL2-
-
-
-
1Loss-
BIRC5-
-
-
-
3Gain-
BIRC7-
-
-
-
3Gain-
BIRC8p.K129R
Missense
SNP
0.592
2--
BIVM-
-
-
-
1Loss-
BIVM-ERCC5-
-
-
-
1Loss-
BLVRB-
-
-
-
3Gain-
BMP2K-
-
-
-
1Loss-
BMP3-
-
-
-
1Loss-
BMP7-
-
-
-
3Gain-
BMP8A-
-
-
-
3Gain-
BMP8B-
-
-
-
3Gain-
BMPR1B-
-
-
-
1Loss-
BNC1-
-
-
-
1Loss-
BNIPL-
-
-
-
3Gain-
BOC-
-
-
-
3Gain-
BOD1L2-
-
-
-
1Loss-
BOLA1-
-
-
-
3Gain-
BOLA2-
-
-
-
1Loss-
BOLA2-SMG1P6-
-
-
-
1Loss-
BOLA2B-
-
-
-
1Loss-
BORA-
-
-
-
1Loss-
BORCS6-
-
-
-
3Gain-
BPTF-
-
-
-
3Gain-
BRCA2-
-
-
-
1Loss-
BRDT-
-
-
-
6Amp-
BRICD5-
-
-
-
1Loss-
BRIP1-
-
-
-
3Gain-
BSDC1-
-
-
-
3Gain-
BSNDp.R30W
Missense
SNP
0.804
3Gain-
BTBD1-
-
-
-
1Loss-
BTBD17-
-
-
-
3Gain-
BTBD19-
-
-
-
3Gain-
BTBD8-
-
-
-
6Amp-
BTC-
-
-
-
1Loss-
BTF3L4-
-
-
-
3Gain-
BTG1-
-
-
-
3Gain-
BTLA-
-
-
-
3Gain-
C11orf65p.A259V
Missense
SNP
0.603
2--
C11orf88p.E51K
Missense
SNP
0.289
2--
C12orf29-
-
-
-
3Gain-
C12orf50-
-
-
-
3Gain-
C15orf39-
-
-
-
1Loss-
C15orf40-
-
-
-
1Loss-
C16orf45-
-
-
-
6Amp-
C16orf54p.R106W
Missense
SNP
0.467
1Loss-
C16orf58-
-
-
-
1Loss-
C16orf71-
-
-
-
1Loss-
C16orf89-
-
-
-
1Loss-
C16orf90-
-
-
-
1Loss-
C16orf92-
-
-
-
1Loss-
C16orf96-
-
-
-
1Loss-
C17orf100-
-
-
-
3Gain-
C17orf107-
-
-
-
3Gain-
C17orf47-
-
-
-
3Gain-
C17orf49-
-
-
-
3Gain-
C17orf51-
-
-
-
3Gain-
C17orf58-
-
-
-
3Gain-
C17orf64-
-
-
-
3Gain-
C17orf67-
-
-
-
3Gain-
C17orf80-
-
-
-
3Gain-
C17orf97-
-
-
-
3Gain-
C17orf99-
-
-
-
3Gain-
C18orf21-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C19orf12-
-
-
-
3Gain-
C19orf33-
-
-
-
3Gain-
C19orf47-
-
-
-
3Gain-
C19orf54-
-
-
-
3Gain-
C19orf84p.T44I
Missense
SNP
0.177
2--
C1orf109-
-
-
-
3Gain-
C1orf122-
-
-
-
3Gain-
C1orf123-
-
-
-
3Gain-
C1orf127-
-
-
-
3Gain-
C1orf141-
-
-
-
3Gain-
C1orf146-
-
-
-
6Amp-
C1orf158-
-
-
-
3Gain-
C1orf159-
-
-
-
3Gain-
C1orf162-
-
-
-
5Amp-
C1orf167-
-
-
-
3Gain-
C1orf174-
-
-
-
3Gain-
C1orf185-
-
-
-
3Gain-
C1orf189-
-
-
-
3Gain-
C1orf194-
-
-
-
5Amp-
C1orf210-
-
-
-
3Gain-
C1orf216-
-
-
-
6Amp-
C1orf50-
-
-
-
3Gain-
C1orf52-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1orf87-
-
-
-
3Gain-
C1orf94-
-
-
-
6Amp-
C1QA-
-
-
-
3Gain-
C1QB-
-
-
-
3Gain-
C1QBP-
-
-
-
3Gain-
C1QC-
-
-
-
3Gain-
C1QTNF12-
-
-
-
3Gain-
C1QTNF9-
-
-
-
1Loss-
C1QTNF9B-
-
-
-
1Loss-
C20orf204-
-
-
-
3Gain-
C20orf85-
-
-
-
3Gain-
C2CD4D-
-
-
-
3Gain-
C2orf61p.R38K
Missense
SNP
0.419
NDND-
C3orf22-
-
-
-
3Gain-
C3orf30-
-
-
-
3Gain-
C3orf33-
-
-
-
3Gain-
C3orf52-
-
-
-
3Gain-
C3orf56-
-
-
-
3Gain-
C3orf58-
-
-
-
3Gain-
C3orf70-
-
-
-
3Gain-
C3orf80-
-
-
-
3Gain-
C3orf85-
-
-
-
3Gain-
C4orf17-
-
-
-
1Loss-
C4orf36-
-
-
-
1Loss-
C4orf54-
-
-
-
1Loss-
C6p.S836F
Missense
SNP
0.270
2--
C6orf118-
-
-
-
4Gain-
C8Ap.S395L
Missense
SNP
0.161
3Gain-
C8Bp.E98K
Missense
SNP
0.183
3Gain-
C8orf34p.G237E
p.E454K
Missense
Missense
SNP
SNP
0.252
0.560
2--
C9p.E558K
Missense
SNP
0.712
2--
CA14-
-
-
-
3Gain-
CA4-
-
-
-
3Gain-
CA6-
-
-
-
3Gain-
CAB39L-
-
-
-
1Loss-
CABLES1-
-
-
-
3Gain-
CABLES2-
-
-
-
3Gain-
CABYR-
-
-
-
3Gain-
CACHD1-
-
-
-
3Gain-
CACNA1Cp.E477K
Missense
SNP
0.320
2--
CACNA2D3p.E489K
p.E758K
Missense
Missense
SNP
SNP
0.469
0.545
2--
CACNG1-
-
-
-
3Gain-
CACNG3-
-
-
-
1Loss-
CACNG4-
-
-
-
3Gain-
CACNG5-
-
-
-
3Gain-
CALML6-
-
-
-
3Gain-
CALR3p.P211L
Missense
SNP
0.392
2--
CALY-
-
-
-
1Loss-
CAMK2N1-
-
-
-
3Gain-
CAMK2N2-
-
-
-
3Gain-
CAMKK1-
-
-
-
3Gain-
CAMTA1-
-
-
-
3Gain-
CAMTA2-
-
-
-
3Gain-
CAP1-
-
-
-
3Gain-
CAPN12-
-
-
-
3Gain-
CAPNS1-
-
-
-
3Gain-
CAPS2-
-
-
-
3Gain-
CAPZA1-
-
-
-
5Amp-
CAPZB-
-
-
-
3Gain-
CARS2-
-
-
-
1Loss-
CASKIN1-
-
-
-
1Loss-
CASKIN2-
-
-
-
3Gain-
CASP9-
-
-
-
3Gain-
CASQ2-
-
-
-
5Amp-
CASR-
-
-
-
3Gain-
CASS4-
-
-
-
3Gain-
CASZ1-
-
-
-
3Gain-
CATSPER4-
-
-
-
3Gain-
CATSPERBp.R155*
Nonsense
SNP
0.309
2--
CATSPERG-
-
-
-
3Gain-
CBLB-
-
-
-
3Gain-
CBLN2-
-
-
-
1Loss-
CBLN4-
-
-
-
3Gain-
CC2D1B-
-
-
-
3Gain-
CCBE1-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC122-
-
-
-
1Loss-
CCDC14-
-
-
-
3Gain-
CCDC144A-
-
-
-
3Gain-
CCDC144NL-
-
-
-
3Gain-
CCDC158-
-
-
-
1Loss-
CCDC163-
-
-
-
3Gain-
CCDC168-
-
-
-
1Loss-
CCDC169-
-
-
-
1Loss-
CCDC169-SOHLH2-
-
-
-
1Loss-
CCDC17-
-
-
-
3Gain-
CCDC170-
-
-
-
4Gain-
CCDC18-
-
-
-
6Amp-
CCDC182-
-
-
-
3Gain-
CCDC189-
-
-
-
1Loss-
CCDC191-
-
-
-
3Gain-
CCDC24-
-
-
-
3Gain-
CCDC27-
-
-
-
3Gain-
CCDC28B-
-
-
-
3Gain-
CCDC30-
-
-
-
3Gain-
CCDC33-
-
-
-
1Loss-
CCDC38-
-
-
-
3Gain-
CCDC39-
-
-
-
3Gain-
CCDC42-
-
-
-
3Gain-
CCDC47-
-
-
-
3Gain-
CCDC50-
-
-
-
3Gain-
CCDC54-
-
-
-
3Gain-
CCDC58-
-
-
-
3Gain-
CCDC68-
-
-
-
1Loss-
CCDC70-
-
-
-
1Loss-
CCDC71p.P171S
Missense
SNP
0.443
2--
CCDC80-
-
-
-
3Gain-
CCDC97-
-
-
-
3Gain-
CCER1-
-
-
-
3Gain-
CCER2-
-
-
-
3Gain-
CCNA1-
-
-
-
1Loss-
CCND3p.Q276*
Nonsense
SNP
0.569
2--
CCNE1-
-
-
-
3Gain-
CCNF-
-
-
-
1Loss-
CCNG2-
-
-
-
1Loss-
CCNI-
-
-
-
1Loss-
CCNL1-
-
-
-
3Gain-
CCNL2-
-
-
-
3Gain-
CCP110-
-
-
-
1Loss-
CCR6-
-
-
-
4Gain-
CCSER1-
-
-
-
1Loss-
CCT2-
-
-
-
3Gain-
CD101-
-
-
-
5Amp-
CD109-
-
-
-
5Amp-
CD160-
-
-
-
3Gain-
CD164L2-
-
-
-
3Gain-
CD19-
-
-
-
1Loss-
CD2p.H321D
Missense
SNP
0.848
5Amp-
CD200-
-
-
-
3Gain-
CD200R1-
-
-
-
3Gain-
CD200R1L-
-
-
-
3Gain-
CD22-
-
-
-
3Gain-
CD226-
-
-
-
1Loss-
CD276-
-
-
-
1Loss-
CD2BP2-
-
-
-
1Loss-
CD300A-
-
-
-
3Gain-
CD300C-
-
-
-
3Gain-
CD300E-
-
-
-
3Gain-
CD300LB-
-
-
-
3Gain-
CD300LD-
-
-
-
3Gain-
CD300LF-
-
-
-
3Gain-
CD300LGp.Q305*
Nonsense
SNP
0.968
2--
CD40-
-
-
-
3Gain-
CD47-
-
-
-
3Gain-
CD52-
-
-
-
3Gain-
CD53-
-
-
-
5Amp-
CD58-
-
-
-
5Amp-
CD68-
-
-
-
3Gain-
CD79A-
-
-
-
3Gain-
CD79B-
-
-
-
3Gain-
CD80-
-
-
-
3Gain-
CD86-
-
-
-
3Gain-
CD96-
-
-
-
3Gain-
CDA-
-
-
-
3Gain-
CDADC1-
-
-
-
1Loss-
CDC14A-
-
-
-
6Amp-
CDC16-
-
-
-
1Loss-
CDC20-
-
-
-
3Gain-
CDC42-
-
-
-
3Gain-
CDC42BPAp.S926L
Missense
SNP
0.219
2--
CDC42EP4-
-
-
-
3Gain-
CDC42SE1-
-
-
-
3Gain-
CDC7-
-
-
-
6Amp-
CDCA8-
-
-
-
3Gain-
CDCP2-
-
-
-
3Gain-
CDH19-
-
-
-
1Loss-
CDH2-
-
-
-
1Loss-
CDH20-
-
-
-
1Loss-
CDH22-
-
-
-
3Gain-
CDH26-
-
-
-
3Gain-
CDH4-
-
-
-
3Gain-
CDH7-
-
-
-
1Loss-
CDIP1-
-
-
-
1Loss-
CDIPT-
-
-
-
1Loss-
CDK11B-
-
-
-
3Gain-
CDK17-
-
-
-
3Gain-
CDK3-
-
-
-
3Gain-
CDK8-
-
-
-
1Loss-
CDKL2-
-
-
-
1Loss-
CDKN2Ap.X153_splice
Splice_Site
SNP
1.000
2--
CDKN2C-
-
-
-
3Gain-
CDR2-
-
-
-
1Loss-
CDR2L-
-
-
-
3Gain-
CDRT1-
-
-
-
3Gain-
CDRT15-
-
-
-
3Gain-
CDRT15L2-
-
-
-
3Gain-
CDRT4-
-
-
-
3Gain-
CDS1-
-
-
-
1Loss-
CDV3-
-
-
-
3Gain-
CDX2-
-
-
-
1Loss-
CEACAM1-
-
-
-
3Gain-
CEACAM21-
-
-
-
3Gain-
CEACAM3-
-
-
-
3Gain-
CEACAM4-
-
-
-
3Gain-
CEACAM5p.E253K
Missense
SNP
0.276
3Gain-
CEACAM6-
-
-
-
3Gain-
CEACAM7-
-
-
-
3Gain-
CEACAM8-
-
-
-
3Gain-
CEBPA-
-
-
-
3Gain-
CEBPB-
-
-
-
3Gain-
CEBPG-
-
-
-
3Gain-
CECR5p.R188C
Missense
SNP
0.314
NDND-
CELA2A-
-
-
-
3Gain-
CELA2B-
-
-
-
3Gain-
CELA3A-
-
-
-
3Gain-
CELA3B-
-
-
-
3Gain-
CELF3-
-
-
-
3Gain-
CELF4-
-
-
-
1Loss-
CELF6-
-
-
-
1Loss-
CELSR1p.S636F
Missense
SNP
0.551
2--
CELSR2-
-
-
-
5Amp-
CEMIP-
-
-
-
1Loss-
CEMP1-
-
-
-
1Loss-
CENPJ-
-
-
-
1Loss-
CENPS-
-
-
-
3Gain-
CENPS-CORT-
-
-
-
3Gain-
CENPV-
-
-
-
3Gain-
CEP104-
-
-
-
3Gain-
CEP112-
-
-
-
3Gain-
CEP19-
-
-
-
3Gain-
CEP192-
-
-
-
3Gain-
CEP290-
-
-
-
3Gain-
CEP63-
-
-
-
3Gain-
CEP70-
-
-
-
3Gain-
CEP76-
-
-
-
3Gain-
CEP83-
-
-
-
3Gain-
CEP85-
-
-
-
3Gain-
CEP89-
-
-
-
3Gain-
CEP95-
-
-
-
3Gain-
CEP97-
-
-
-
3Gain-
CEPT1-
-
-
-
5Amp-
CERS2-
-
-
-
3Gain-
CERS3-
-
-
-
3Gain-
CFAP100-
-
-
-
3Gain-
CFAP161-
-
-
-
1Loss-
CFAP299-
-
-
-
1Loss-
CFAP44-
-
-
-
3Gain-
CFAP46-
-
-
-
1Loss-
CFAP52-
-
-
-
3Gain-
CFAP53-
-
-
-
1Loss-
CFAP54-
-
-
-
3Gain-
CFAP57-
-
-
-
3Gain-
CFAP65p.R136K
Missense
SNP
0.454
2--
CFAP74-
-
-
-
3Gain-
CFHR1p.P265L
Missense
SNP
0.833
2--
CFHR5p.N178Kfs*20
Frame_Shift_Ins
INS
0.254
2--
CGAS-
-
-
-
5Amp-
CGN-
-
-
-
3Gain-
CHAMP1-
-
-
-
1Loss-
CHCHD6-
-
-
-
3Gain-
CHD1L-
-
-
-
3Gain-
CHD2-
-
-
-
3Gain-
CHD3-
-
-
-
3Gain-
CHD5p.S796F
Missense
SNP
0.767
3Gain-
CHI3L2-
-
-
-
5Amp-
CHIA-
-
-
-
5Amp-
CHL1p.M167I
Missense
SNP
0.364
2--
CHMP1B-
-
-
-
3Gain-
CHMP7p.S120F
Missense
SNP
0.441
2--
CHP2-
-
-
-
1Loss-
CHRD-
-
-
-
3Gain-
CHRM3p.S23N
Missense
SNP
0.603
2--
CHRNA3-
-
-
-
1Loss-
CHRNA4p.P494S
Missense
SNP
0.581
3Gain-
CHRNA5-
-
-
-
1Loss-
CHRNB1-
-
-
-
3Gain-
CHRNB4-
-
-
-
1Loss-
CHRNE-
-
-
-
3Gain-
CHST13-
-
-
-
3Gain-
CHST2-
-
-
-
3Gain-
CHST8-
-
-
-
3Gain-
CHST9-
-
-
-
1Loss-
CHSY1-
-
-
-
3Gain-
CHTOP-
-
-
-
3Gain-
CIART-
-
-
-
3Gain-
CIB2-
-
-
-
1Loss-
CIC-
-
-
-
3Gain-
CIDEA-
-
-
-
3Gain-
CIITA-
-
-
-
6Amp-
CIP2A-
-
-
-
3Gain-
CITED4-
-
-
-
3Gain-
CKAP2-
-
-
-
1Loss-
CLC-
-
-
-
3Gain-
CLCA1-
-
-
-
3Gain-
CLCA2-
-
-
-
3Gain-
CLCA4-
-
-
-
3Gain-
CLCC1-
-
-
-
5Amp-
CLCN2-
-
-
-
3Gain-
CLCN6-
-
-
-
3Gain-
CLCNKA-
-
-
-
3Gain-
CLCNKB-
-
-
-
3Gain-
CLDN1-
-
-
-
3Gain-
CLDN10-
-
-
-
1Loss-
CLDN11-
-
-
-
3Gain-
CLDN16-
-
-
-
3Gain-
CLDN18-
-
-
-
3Gain-
CLDN19-
-
-
-
3Gain-
CLDN6-
-
-
-
1Loss-
CLDN7-
-
-
-
3Gain-
CLDN9-
-
-
-
1Loss-
CLDND1-
-
-
-
3Gain-
CLEC10A-
-
-
-
3Gain-
CLEC16A-
-
-
-
6Amp-
CLEC6Ap.W151*
Nonsense
SNP
0.231
2--
CLIC4-
-
-
-
3Gain-
CLIP3-
-
-
-
3Gain-
CLK3-
-
-
-
1Loss-
CLLU1OS-
-
-
-
3Gain-
CLN3-
-
-
-
1Loss-
CLN5-
-
-
-
1Loss-
CLRN1-
-
-
-
3Gain-
CLSPN-
-
-
-
6Amp-
CLSTN1-
-
-
-
3Gain-
CLSTN2-
-
-
-
3Gain-
CLTC-
-
-
-
3Gain-
CLUAP1-
-
-
-
1Loss-
CLUH-
-
-
-
3Gain-
CLYBL-
-
-
-
1Loss-
CMPK1-
-
-
-
3Gain-
CMSS1-
-
-
-
3Gain-
CNBP-
-
-
-
3Gain-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNFN-
-
-
-
3Gain-
CNKSR1-
-
-
-
3Gain-
CNMD-
-
-
-
1Loss-
CNN3-
-
-
-
6Amp-
CNOT2-
-
-
-
3Gain-
CNOT6L-
-
-
-
1Loss-
CNR2-
-
-
-
3Gain-
CNTD2-
-
-
-
3Gain-
CNTN5p.E619K
Missense
SNP
0.241
2--
CNTROB-
-
-
-
3Gain-
COA7-
-
-
-
3Gain-
COG1-
-
-
-
3Gain-
COG3-
-
-
-
1Loss-
COG6-
-
-
-
1Loss-
COG7-
-
-
-
1Loss-
COIL-
-
-
-
3Gain-
COL11A1-
-
-
-
6Amp-
COL12A1-
-
-
-
5Amp-
COL16A1-
-
-
-
3Gain-
COL18A1p.F507L
Missense
SNP
0.448
2--
COL20A1-
-
-
-
3Gain-
COL24A1-
-
-
-
3Gain-
COL4A1-
-
-
-
1Loss-
COL4A2p.P1042S
Missense
SNP
0.762
1Loss-
COL4A4p.G993E
Missense
SNP
0.355
2--
COL5A3p.R1341K
Missense
SNP
0.433
2--
COL6A3p.R856C
Missense
SNP
0.467
2--
COL6A5-
-
-
-
3Gain-
COL6A6p.P912S
Missense
SNP
0.331
3Gain-
COL8A1-
-
-
-
3Gain-
COL8A2-
-
-
-
6Amp-
COL9A2-
-
-
-
3Gain-
COL9A3-
-
-
-
3Gain-
COMMD2-
-
-
-
3Gain-
COMMD4-
-
-
-
1Loss-
COMMD6-
-
-
-
1Loss-
COMMD8p.P155L
Missense
SNP
0.302
2--
COPB2-
-
-
-
3Gain-
COPG1-
-
-
-
3Gain-
COPS3-
-
-
-
3Gain-
COPS4-
-
-
-
1Loss-
COQ2-
-
-
-
1Loss-
COQ8B-
-
-
-
3Gain-
CORO1A-
-
-
-
1Loss-
CORO7-
-
-
-
1Loss-
CORO7-PAM16-
-
-
-
1Loss-
CORT-
-
-
-
3Gain-
COX10-
-
-
-
3Gain-
COX11-
-
-
-
3Gain-
COX17-
-
-
-
3Gain-
COX18-
-
-
-
1Loss-
COX5A-
-
-
-
1Loss-
COX6A2-
-
-
-
1Loss-
COX6B1-
-
-
-
3Gain-
COX7A1-
-
-
-
3Gain-
COX7A2-
-
-
-
5Amp-
CP-
-
-
-
3Gain-
CPA3p.S305F
Missense
SNP
0.578
3Gain-
CPB1-
-
-
-
3Gain-
CPB2-
-
-
-
1Loss-
CPEB1-
-
-
-
1Loss-
CPLANE2-
-
-
-
3Gain-
CPLX3-
-
-
-
1Loss-
CPLX4-
-
-
-
1Loss-
CPM-
-
-
-
3Gain-
CPN2-
-
-
-
3Gain-
CPNE4-
-
-
-
3Gain-
CPNE8p.P180S
Missense
SNP
0.500
2--
CPOX-
-
-
-
3Gain-
CPPED1-
-
-
-
6Amp-
CPSF4L-
-
-
-
3Gain-
CPSF6-
-
-
-
3Gain-
CPT2-
-
-
-
3Gain-
CPTP-
-
-
-
3Gain-
CPZ-
-
-
-
1Loss-
CR2p.R643C
Missense
SNP
0.309
2--
CRABP1-
-
-
-
1Loss-
CRADD-
-
-
-
3Gain-
CRB1p.E863K
Missense
SNP
0.562
2--
CRCT1-
-
-
-
3Gain-
CREB3L4-
-
-
-
3Gain-
CREBBP-
-
-
-
1Loss-
CRK-
-
-
-
3Gain-
CRNN-
-
-
-
3Gain-
CROCC-
-
-
-
3Gain-
CRTC2-
-
-
-
3Gain-
CRXp.P240L
Missense
SNP
0.494
2--
CRYBG2-
-
-
-
3Gain-
CRYBG3-
-
-
-
3Gain-
CRYGS-
-
-
-
3Gain-
CRYL1-
-
-
-
1Loss-
CRYM-
-
-
-
1Loss-
CRYZ-
-
-
-
3Gain-
CSDE1-
-
-
-
5Amp-
CSE1L-
-
-
-
3Gain-
CSF1-
-
-
-
5Amp-
CSF3R-
-
-
-
6Amp-
CSH1-
-
-
-
3Gain-
CSH2-
-
-
-
3Gain-
CSHL1-
-
-
-
3Gain-
CSK-
-
-
-
1Loss-
CSMD2-
-
-
-
3Gain-
CSNK1A1L-
-
-
-
1Loss-
CSPG4-
-
-
-
1Loss-
CSPP1p.Q150*
Nonsense
SNP
0.556
2--
CSRP1-
-
-
-
2-VANGL2--CSRP1
CSRP2-
-
-
-
3Gain-
CSTA-
-
-
-
3Gain-
CSTBp.A40D
Missense
SNP
0.537
2--
CSTF1-
-
-
-
3Gain-
CT62-
-
-
-
1Loss-
CTAGE1-
-
-
-
3Gain-
CTAGE9-
-
-
-
3Gain-
CTBS-
-
-
-
3Gain-
CTC1-
-
-
-
3Gain-
CTCFL-
-
-
-
3Gain-
CTDNEP1-
-
-
-
3Gain-
CTDP1-
-
-
-
1Loss-
CTF1-
-
-
-
1Loss-
CTGF-
-
-
-
3Gain-
CTH-
-
-
-
3Gain-
CTIF-
-
-
-
1Loss-
CTNNBIP1-
-
-
-
3Gain-
CTNS-
-
-
-
3Gain-
CTPS1-
-
-
-
3Gain-
CTR9p.H153Y
Missense
SNP
0.505
2--
CTRC-
-
-
-
3Gain-
CTSH-
-
-
-
1Loss-
CTSK-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CTSZ-
-
-
-
3Gain-
CTTNBP2NL-
-
-
-
5Amp-
CUEDC1-
-
-
-
3Gain-
CUL4A-
-
-
-
1Loss-
CWF19L2p.P842S
Missense
SNP
0.298
2--
CXCL1-
-
-
-
1Loss-
CXCL10-
-
-
-
1Loss-
CXCL11-
-
-
-
1Loss-
CXCL13-
-
-
-
1Loss-
CXCL16-
-
-
-
3Gain-
CXCL17-
-
-
-
3Gain-
CXCL2-
-
-
-
1Loss-
CXCL3-
-
-
-
1Loss-
CXCL5-
-
-
-
1Loss-
CXCL6-
-
-
-
1Loss-
CXCL8-
-
-
-
1Loss-
CXCL9-
-
-
-
1Loss-
CXCR2p.G324R
Missense
SNP
0.428
2--
CXXC1-
-
-
-
1Loss-
CYB561-
-
-
-
3Gain-
CYB561D1-
-
-
-
5Amp-
CYB5A-
-
-
-
1Loss-
CYB5D1-
-
-
-
3Gain-
CYB5D2-
-
-
-
3Gain-
CYB5RL-
-
-
-
3Gain-
CYGB-
-
-
-
3Gain-
CYP11A1-
-
-
-
1Loss-
CYP11B2p.V129M
Missense
SNP
0.548
2--
CYP1A1-
-
-
-
1Loss-
CYP1A2-
-
-
-
1Loss-
CYP24A1-
-
-
-
3Gain-
CYP2A13-
-
-
-
3Gain-
CYP2A6-
-
-
-
3Gain-
CYP2A7-
-
-
-
3Gain-
CYP2B6-
-
-
-
3Gain-
CYP2C8p.S460F
Missense
SNP
0.673
2--
CYP2E1-
-
-
-
1Loss-
CYP2F1-
-
-
-
3Gain-
CYP2J2-
-
-
-
3Gain-
CYP2S1-
-
-
-
3Gain-
CYP4A11-
-
-
-
3Gain-
CYP4A22-
-
-
-
3Gain-
CYP4B1-
-
-
-
3Gain-
CYP4X1-
-
-
-
3Gain-
CYP4Z1-
-
-
-
3Gain-
CYR61-
-
-
-
3Gain-
CYSLTR2-
-
-
-
1Loss-
DAB1-
-
-
-
3Gain-
DACH1p.E522K
Missense
SNP
0.926
1Loss-
DAOA-
-
-
-
1Loss-
DAPP1-
-
-
-
1Loss-
DBR1-
-
-
-
3Gain-
DBT-
-
-
-
6Amp-
DCAF7-
-
-
-
3Gain-
DCBLD2-
-
-
-
3Gain-
DCCp.R1337*
Nonsense
SNP
0.403
1Loss-
DCDC2B-
-
-
-
3Gain-
DCLK1-
-
-
-
1Loss-
DCLRE1B-
-
-
-
5Amp-
DCN-
-
-
-
3Gain-
DCT-
-
-
-
1Loss-
DCTN5-
-
-
-
1Loss-
DCTPP1-
-
-
-
1Loss-
DCUN1D1-
-
-
-
3Gain-
DCUN1D2-
-
-
-
1Loss-
DCUN1D3-
-
-
-
1Loss-
DDAH1-
-
-
-
3Gain-
DDI2-
-
-
-
3Gain-
DDIT4L-
-
-
-
1Loss-
DDOST-
-
-
-
3Gain-
DDX20-
-
-
-
5Amp-
DDX27-
-
-
-
3Gain-
DDX42-
-
-
-
3Gain-
DDX43-
-
-
-
5Amp-
DDX47p.S229F
Missense
SNP
0.320
2--
DDX5-
-
-
-
3Gain-
DEDD2-
-
-
-
3Gain-
DENND1Ap.G248R
Missense
SNP
0.376
2--
DENND2C-
-
-
-
5Amp-
DENND2D-
-
-
-
5Amp-
DENND4B-
-
-
-
3Gain-
DEPDC1-
-
-
-
3Gain-
DERL2-
-
-
-
3Gain-
DFFA-
-
-
-
3Gain-
DFFB-
-
-
-
3Gain-
DGKE-
-
-
-
3Gain-
DGKG-
-
-
-
3Gain-
DGKH-
-
-
-
1Loss-
DHCR24-
-
-
-
3Gain-
DHDDS-
-
-
-
3Gain-
DHFR2-
-
-
-
3Gain-
DHRS12-
-
-
-
1Loss-
DHRS3-
-
-
-
3Gain-
DHRS7B-
-
-
-
3Gain-
DHRS7C-
-
-
-
3Gain-
DHX33-
-
-
-
3Gain-
DHX36-
-
-
-
3Gain-
DHX37p.E107K
Missense
SNP
0.383
2--
DHX40-
-
-
-
3Gain-
DIAPH3-
-
-
-
1Loss-
DIDO1-
-
-
-
3Gain-
DIO1-
-
-
-
3Gain-
DIRAS3-
-
-
-
3Gain-
DIRC2-
-
-
-
3Gain-
DIS3-
-
-
-
1Loss-
DISP3p.E17K
Missense
SNP
0.753
3Gain-
DLEU7-
-
-
-
1Loss-
DLG1-
-
-
-
3Gain-
DLG4-
-
-
-
3Gain-
DLG5p.S604F
Missense
SNP
0.261
2--
DLGAP3-
-
-
-
6Amp-
DLL3-
-
-
-
3Gain-
DMAC2-
-
-
-
3Gain-
DMAP1-
-
-
-
3Gain-
DMBX1-
-
-
-
3Gain-
DMKN-
-
-
-
3Gain-
DMP1-
-
-
-
1Loss-
DMRTA2-
-
-
-
3Gain-
DMRTB1-
-
-
-
3Gain-
DMRTC2-
-
-
-
3Gain-
DNAH17p.E3587K
Missense
SNP
0.853
2--
DNAH2-
-
-
-
3Gain-
DNAH3-
-
-
-
1Loss-
DNAH5p.E3549K
p.E3208K
Missense
Missense
SNP
SNP
0.626
0.335
2--
DNAH7p.R3333*
Nonsense
SNP
0.488
2--
DNAH8p.P1182S
Missense
SNP
0.480
2--
DNAH9-
-
-
-
3Gain-
DNAI2-
-
-
-
3Gain-
DNAJA3-
-
-
-
1Loss-
DNAJA4-
-
-
-
1Loss-
DNAJB11-
-
-
-
3Gain-
DNAJB14-
-
-
-
1Loss-
DNAJB4-
-
-
-
3Gain-
DNAJB8-
-
-
-
3Gain-
DNAJC11-
-
-
-
3Gain-
DNAJC13-
-
-
-
3Gain-
DNAJC15-
-
-
-
1Loss-
DNAJC16-
-
-
-
3Gain-
DNAJC19p.R84Q
Missense
SNP
0.615
3Gain-
DNAJC3-
-
-
-
1Loss-
DNAJC5-
-
-
-
3Gain-
DNAJC6-
-
-
-
3Gain-
DNAJC8-
-
-
-
3Gain-
DNALI1-
-
-
-
3Gain-
DNASE1-
-
-
-
1Loss-
DNASE1L2-
-
-
-
1Loss-
DNASE2B-
-
-
-
3Gain-
DNTTIP2-
-
-
-
6Amp-
DOC2A-
-
-
-
1Loss-
DOC2B-
-
-
-
3Gain-
DOCK3p.R126Q
Missense
SNP
0.529
2--
DOCK7-
-
-
-
3Gain-
DOCK9-
-
-
-
1Loss-
DOK5-
-
-
-
3Gain-
DOK6-
-
-
-
1Loss-
DPF1-
-
-
-
3Gain-
DPH1-
-
-
-
3Gain-
DPH2-
-
-
-
3Gain-
DPH5-
-
-
-
6Amp-
DPM1-
-
-
-
3Gain-
DPP6p.D320N
Missense
SNP
0.430
2--
DPPA2-
-
-
-
3Gain-
DPPA4-
-
-
-
3Gain-
DPPA5-
-
-
-
5Amp-
DPY19L3-
-
-
-
3Gain-
DPYD-
-
-
-
6Amp-
DR1-
-
-
-
6Amp-
DRAM2-
-
-
-
5Amp-
DRAXIN-
-
-
-
3Gain-
DRC3-
-
-
-
3Gain-
DRD2p.P290L
Missense
SNP
0.625
2--
DRD3-
-
-
-
3Gain-
DRD5-
-
-
-
1Loss-
DRG2-
-
-
-
3Gain-
DSEL-
-
-
-
1Loss-
DSPP-
-
-
-
1Loss-
DTNA-
-
-
-
1Loss-
DTX3L-
-
-
-
3Gain-
DUOX1p.R353Q
Missense
SNP
0.247
2--
DUSP6-
-
-
-
3Gain-
DVL1-
-
-
-
3Gain-
DVL2-
-
-
-
3Gain-
DVL3p.E165*
Nonsense
SNP
0.588
3Gain-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNLL2-
-
-
-
3Gain-
DYRK1B-
-
-
-
3Gain-
DZIP1-
-
-
-
1Loss-
DZIP1L-
-
-
-
3Gain-
DZIP3p.S559F
Missense
SNP
0.601
3Gain-
E2F2-
-
-
-
3Gain-
E2F7-
-
-
-
3Gain-
E4F1-
-
-
-
1Loss-
EAF2-
-
-
-
3Gain-
EARS2-
-
-
-
1Loss-
EBNA1BP2p.G38R
Missense
SNP
0.280
3Gain-
EBPL-
-
-
-
1Loss-
ECE1-
-
-
-
3Gain-
ECE2-
-
-
-
3Gain-
ECH1-
-
-
-
3Gain-
ECHDC2-
-
-
-
3Gain-
ECHS1-
-
-
-
1Loss-
ECI1-
-
-
-
1Loss-
ECM1-
-
-
-
3Gain-
ECT2-
-
-
-
3Gain-
EDC3-
-
-
-
1Loss-
EDN2-
-
-
-
3Gain-
EDN3-
-
-
-
3Gain-
EDNRB-
-
-
-
1Loss-
EDRF1p.L205F
Missense
SNP
0.349
2--
EEA1-
-
-
-
3Gain-
EEF1A1-
-
-
-
5Amp-
EEF1A2-
-
-
-
3Gain-
EEF1AKMT1-
-
-
-
1Loss-
EEF1AKMT4-
-
-
-
3Gain-
EEF1AKMT4-ECE2-
-
-
-
3Gain-
EEF2K-
-
-
-
1Loss-
EEF2KMT-
-
-
-
1Loss-
EEFSEC-
-
-
-
3Gain-
EFCAB12-
-
-
-
3Gain-
EFCAB14-
-
-
-
3Gain-
EFCAB3-
-
-
-
3Gain-
EFCAB7-
-
-
-
3Gain-
EFCC1-
-
-
-
3Gain-
EFHC2p.R522C
Missense
SNP
0.852
NDND-
EFHD2-
-
-
-
3Gain-
EFL1-
-
-
-
1Loss-
EFNB2-
-
-
-
1Loss-
EFNB3-
-
-
-
3Gain-
EGLN2-
-
-
-
3Gain-
EHD2p.S256F
Missense
SNP
0.272
2--
EHHADH-
-
-
-
3Gain-
EID2-
-
-
-
3Gain-
EID2B-
-
-
-
3Gain-
EIF2A-
-
-
-
3Gain-
EIF2B3-
-
-
-
3Gain-
EIF2B5-
-
-
-
3Gain-
EIF3C-
-
-
-
1Loss-
EIF3CL-
-
-
-
1Loss-
EIF3I-
-
-
-
3Gain-
EIF3K-
-
-
-
3Gain-
EIF4A1-
-
-
-
3Gain-
EIF4A2-
-
-
-
3Gain-
EIF4E-
-
-
-
1Loss-
EIF4G1-
-
-
-
3Gain-
EIF4G3-
-
-
-
3Gain-
EIF5A-
-
-
-
3Gain-
EIF5A2-
-
-
-
3Gain-
EIF6-
-
-
-
2-AC007952.4--EIF6
ELAC1-
-
-
-
1Loss-
ELAC2-
-
-
-
3Gain-
ELAVL4-
-
-
-
3Gain-
ELF1-
-
-
-
1Loss-
ELF3p.R233C
Missense
SNP
0.613
2--
ELK3-
-
-
-
3Gain-
ELMO2-
-
-
-
3Gain-
ELOA-
-
-
-
3Gain-
ELOA2-
-
-
-
1Loss-
ELOA3-
-
-
-
1Loss-
ELOA3B-
-
-
-
1Loss-
ELOA3C-
-
-
-
1Loss-
ELOA3D-
-
-
-
1Loss-
ELOB-
-
-
-
1Loss-
ELOVL1-
-
-
-
3Gain-
ELOVL2p.R22Q
Missense
SNP
0.532
2--
ELOVL4-
-
-
-
3Gain-
ELP2-
-
-
-
1Loss-
ELP5-
-
-
-
3Gain-
EMC1-
-
-
-
3Gain-
EMC6-
-
-
-
3Gain-
EMCN-
-
-
-
1Loss-
EMP2-
-
-
-
6Amp-
ENO1-
-
-
-
3Gain-
ENO3-
-
-
-
3Gain-
ENOPH1-
-
-
-
1Loss-
ENOX1-
-
-
-
1Loss-
ENPP1-
-
-
-
3Gain-
ENPP3-
-
-
-
3Gain-
ENSA-
-
-
-
3Gain-
EPB41-
-
-
-
3Gain-
EPB41L2-
-
-
-
3Gain-
EPB41L3-
-
-
-
3Gain-
EPG5-
-
-
-
1Loss-
EPGN-
-
-
-
1Loss-
EPHA10-
-
-
-
3Gain-
EPHA2-
-
-
-
3Gain-
EPHA6-
-
-
-
3Gain-
EPHA7p.P381T
Missense
SNP
0.266
2--
EPHA8-
-
-
-
3Gain-
EPHB1-
-
-
-
3Gain-
EPHB2-
-
-
-
3Gain-
EPHB3-
-
-
-
3Gain-
EPHX4-
-
-
-
6Amp-
EPN2-
-
-
-
3Gain-
EPS15-
-
-
-
3Gain-
EPS8L3-
-
-
-
5Amp-
EPSTI1-
-
-
-
1Loss-
EPX-
-
-
-
3Gain-
EPYC-
-
-
-
3Gain-
ERCC4-
-
-
-
6Amp-
ERCC5-
-
-
-
1Loss-
EREG-
-
-
-
1Loss-
ERF-
-
-
-
3Gain-
ERI2-
-
-
-
1Loss-
ERI3-
-
-
-
3Gain-
ERICH3p.E1180K
p.E663K
Missense
Missense
SNP
SNP
0.303
0.295
3Gain-
ERICH4-
-
-
-
3Gain-
ERICH6-
-
-
-
3Gain-
ERICH6B-
-
-
-
1Loss-
ERMAP-
-
-
-
3Gain-
ERN1-
-
-
-
3Gain-
ERN2-
-
-
-
1Loss-
ERRFI1-
-
-
-
3Gain-
ESCO1-
-
-
-
3Gain-
ESD-
-
-
-
1Loss-
ESPN-
-
-
-
3Gain-
ESR1-
-
-
-
4Gain-
ESYT3-
-
-
-
3Gain-
ETFA-
-
-
-
1Loss-
ETV2-
-
-
-
3Gain-
ETV5-
-
-
-
3Gain-
EVA1B-
-
-
-
6Amp-
EVI5-
-
-
-
6Amp-
EVPL-
-
-
-
3Gain-
EVPLL-
-
-
-
3Gain-
EWSR1p.G506E
Missense
SNP
0.305
2--
EXO5-
-
-
-
3Gain-
EXOC7-
-
-
-
3Gain-
EXOSC10-
-
-
-
3Gain-
EXOSC5-
-
-
-
3Gain-
EXOSC8-
-
-
-
1Loss-
EXTL1-
-
-
-
3Gain-
EXTL2-
-
-
-
6Amp-
EYA2-
-
-
-
3Gain-
EYA3-
-
-
-
3Gain-
EYSp.E1997K
Missense
SNP
0.522
2--
F10-
-
-
-
1Loss-
F3-
-
-
-
6Amp-
F7-
-
-
-
1Loss-
FAAH-
-
-
-
3Gain-
FAAP20-
-
-
-
3Gain-
FAAP24-
-
-
-
3Gain-
FABP3-
-
-
-
3Gain-
FADS6-
-
-
-
3Gain-
FAF1-
-
-
-
3Gain-
FAH-
-
-
-
1Loss-
FAIM-
-
-
-
3Gain-
FAM102B-
-
-
-
5Amp-
FAM104A-
-
-
-
3Gain-
FAM110D-
-
-
-
3Gain-
FAM117Ap.E154K
Missense
SNP
0.823
2--
FAM124A-
-
-
-
1Loss-
FAM131A-
-
-
-
3Gain-
FAM131C-
-
-
-
3Gain-
FAM13A-
-
-
-
1Loss-
FAM151A-
-
-
-
3Gain-
FAM155Ap.S224L
Missense
SNP
0.857
1Loss-
FAM162A-
-
-
-
3Gain-
FAM167B-
-
-
-
3Gain-
FAM169B-
-
-
-
3Gain-
FAM174B-
-
-
-
3Gain-
FAM179Ap.G148R
Missense
SNP
0.446
NDND-
FAM183A-
-
-
-
3Gain-
FAM187B-
-
-
-
3Gain-
FAM19A2p.G104E
Missense
SNP
0.209
2--
FAM19A3-
-
-
-
5Amp-
FAM209A-
-
-
-
3Gain-
FAM209B-
-
-
-
3Gain-
FAM20A-
-
-
-
3Gain-
FAM210A-
-
-
-
3Gain-
FAM210B-
-
-
-
3Gain-
FAM216B-
-
-
-
1Loss-
FAM217B-
-
-
-
3Gain-
FAM219B-
-
-
-
1Loss-
FAM229A-
-
-
-
3Gain-
FAM229B-
-
-
-
3Gain-
FAM43A-
-
-
-
3Gain-
FAM43B-
-
-
-
3Gain-
FAM47E-
-
-
-
1Loss-
FAM47E-STBD1-
-
-
-
1Loss-
FAM57A-
-
-
-
3Gain-
FAM57B-
-
-
-
1Loss-
FAM69A-
-
-
-
6Amp-
FAM69C-
-
-
-
1Loss-
FAM71Cp.K106N
Missense
SNP
0.595
2--
FAM76A-
-
-
-
3Gain-
FAM83Bp.P828H
Missense
SNP
0.438
2--
FAM83G-
-
-
-
3Gain-
FAM91A1p.R446K
Missense
SNP
0.357
2--
FAM98C-
-
-
-
3Gain-
FANCD2p.G713D
Missense
SNP
0.288
2--
FARP1-
-
-
-
1Loss-
FAT3p.D78N
Missense
SNP
0.651
2--
FBF1-
-
-
-
3Gain-
FBL-
-
-
-
3Gain-
FBLIM1-
-
-
-
3Gain-
FBRS-
-
-
-
1Loss-
FBXL19-
-
-
-
1Loss-
FBXL3-
-
-
-
1Loss-
FBXO15-
-
-
-
1Loss-
FBXO17-
-
-
-
3Gain-
FBXO2-
-
-
-
3Gain-
FBXO22-
-
-
-
1Loss-
FBXO27-
-
-
-
3Gain-
FBXO39-
-
-
-
3Gain-
FBXO40-
-
-
-
3Gain-
FBXO42-
-
-
-
3Gain-
FBXO44-
-
-
-
3Gain-
FBXO45-
-
-
-
3Gain-
FBXO6-
-
-
-
3Gain-
FBXW10-
-
-
-
3Gain-
FCGBP-
-
-
-
3Gain-
FCGR1A-
-
-
-
3Gain-
FCGR1B-
-
-
-
3Gain-
FCN3-
-
-
-
3Gain-
FDXR-
-
-
-
3Gain-
FECH-
-
-
-
1Loss-
FER1L6p.P1379S
Missense
SNP
0.255
2--
FES-
-
-
-
3Gain-
FETUB-
-
-
-
3Gain-
FEZ1p.P355L
Missense
SNP
0.306
2--
FFAR1-
-
-
-
3Gain-
FFAR2-
-
-
-
3Gain-
FFAR3-
-
-
-
3Gain-
FGD5p.S718F
Missense
SNP
0.430
2--
FGD6-
-
-
-
3Gain-
FGF11-
-
-
-
3Gain-
FGF12-
-
-
-
3Gain-
FGF13p.R49C
Missense
SNP
0.706
NDND-
FGF14-
-
-
-
1Loss-
FGF5-
-
-
-
1Loss-
FGF9-
-
-
-
1Loss-
FGFR1OP-
-
-
-
4Gain-
FGGY-
-
-
-
3Gain-
FGR-
-
-
-
3Gain-
FHAD1-
-
-
-
3Gain-
FHL3-
-
-
-
3Gain-
FHOD3-
-
-
-
1Loss-
FILIP1p.L1208F
Missense
SNP
0.754
5Amp-
FILIP1L-
-
-
-
3Gain-
FKBP8p.P161S
Missense
SNP
0.437
2--
FLCN-
-
-
-
3Gain-
FLGp.S2476F
Missense
SNP
0.677
3Gain-
FLG2-
-
-
-
3Gain-
FLII-
-
-
-
3Gain-
FLNCp.E1582K
Missense
SNP
0.390
2--
FLT1-
-
-
-
1Loss-
FLT3-
-
-
-
1Loss-
FLYWCH1-
-
-
-
1Loss-
FLYWCH2-
-
-
-
1Loss-
FMO5-
-
-
-
3Gain-
FNBP1L-
-
-
-
6Amp-
FNDC10-
-
-
-
3Gain-
FNDC11-
-
-
-
3Gain-
FNDC3A-
-
-
-
1Loss-
FNDC3B-
-
-
-
3Gain-
FNDC5-
-
-
-
3Gain-
FNDC7-
-
-
-
5Amp-
FOPNL-
-
-
-
6Amp-
FOXD2-
-
-
-
3Gain-
FOXD3-
-
-
-
3Gain-
FOXE3-
-
-
-
3Gain-
FOXJ1-
-
-
-
3Gain-
FOXJ3-
-
-
-
3Gain-
FOXL2-
-
-
-
3Gain-
FOXL2NB-
-
-
-
3Gain-
FOXO1-
-
-
-
1Loss-
FOXO6-
-
-
-
3Gain-
FPGT-
-
-
-
3Gain-
FPGT-TNNI3K-
-
-
-
3Gain-
FRAS1-
-
-
-
1Loss-
FREM2-
-
-
-
1Loss-
FRG2B-
-
-
-
1Loss-
FRMD3p.S346F
Missense
SNP
0.475
2--
FRRS1-
-
-
-
6Amp-
FRS2-
-
-
-
3Gain-
FRY-
-
-
-
1Loss-
FSD2-
-
-
-
1Loss-
FSTL1-
-
-
-
3Gain-
FTSJ3-
-
-
-
3Gain-
FUBP1-
-
-
-
3Gain-
FUCA1-
-
-
-
3Gain-
FUCA2-
-
-
-
5Amp-
FUOM-
-
-
-
1Loss-
FURIN-
-
-
-
3Gain-
FUS-
-
-
-
1Loss-
FXR1-
-
-
-
3Gain-
FXR2-
-
-
-
3Gain-
FXYD1-
-
-
-
3Gain-
FXYD3-
-
-
-
3Gain-
FXYD5-
-
-
-
3Gain-
FXYD7-
-
-
-
3Gain-
FYB2-
-
-
-
3Gain-
FYN-
-
-
-
3Gain-
FYTTD1-
-
-
-
3Gain-
G3BP2-
-
-
-
1Loss-
GABARAP-
-
-
-
3Gain-
GABPB2-
-
-
-
3Gain-
GABRA4p.E217K
Missense
SNP
0.608
2--
GABRD-
-
-
-
3Gain-
GABRQp.S429L
Missense
SNP
0.768
NDND-
GABRR3-
-
-
-
3Gain-
GADD45A-
-
-
-
3Gain-
GALE-
-
-
-
3Gain-
GALK1-
-
-
-
3Gain-
GALNT1-
-
-
-
1Loss-
GALNT16p.R136C
Missense
SNP
0.523
2--
GALR1-
-
-
-
1Loss-
GALR2-
-
-
-
3Gain-
GAP43-
-
-
-
3Gain-
GAPDHS-
-
-
-
3Gain-
GAS6-
-
-
-
1Loss-
GAS7-
-
-
-
3Gain-
GATA2-
-
-
-
3Gain-
GATA5-
-
-
-
3Gain-
GATA6-
-
-
-
3Gain-
GATAD2B-
-
-
-
3Gain-
GBP1-
-
-
-
3Gain-
GBP2-
-
-
-
3Gain-
GBP3-
-
-
-
3Gain-
GBP4-
-
-
-
3Gain-
GBP5-
-
-
-
3Gain-
GBP6-
-
-
-
3Gain-
GBP7-
-
-
-
3Gain-
GCLM-
-
-
-
6Amp-
GCNT7-
-
-
-
3Gain-
GCSAM-
-
-
-
3Gain-
GDAP2-
-
-
-
5Amp-
GDE1-
-
-
-
1Loss-
GDPD1-
-
-
-
3Gain-
GDPD3-
-
-
-
1Loss-
GEMIN4-
-
-
-
3Gain-
GFER-
-
-
-
1Loss-
GFI1-
-
-
-
6Amp-
GFM1-
-
-
-
3Gain-
GGA2-
-
-
-
1Loss-
GGA3-
-
-
-
3Gain-
GGACT-
-
-
-
1Loss-
GGCXp.G732E
Missense
SNP
0.490
2--
GGN-
-
-
-
3Gain-
GGT6-
-
-
-
3Gain-
GH1-
-
-
-
3Gain-
GH2-
-
-
-
3Gain-
GHSR-
-
-
-
3Gain-
GID4-
-
-
-
3Gain-
GID8-
-
-
-
3Gain-
GINM1-
-
-
-
4Gain-
GINS1p.R73*
Nonsense
SNP
0.461
2--
GIPC2-
-
-
-
3Gain-
GJA3-
-
-
-
1Loss-
GJA4-
-
-
-
6Amp-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJA9-
-
-
-
3Gain-
GJA9-MYCBP-
-
-
-
3Gain-
GJB2-
-
-
-
1Loss-
GJB3-
-
-
-
6Amp-
GJB4-
-
-
-
6Amp-
GJB5-
-
-
-
6Amp-
GJB6-
-
-
-
1Loss-
GK2-
-
-
-
1Loss-
GK5-
-
-
-
3Gain-
GLIPR1-
-
-
-
3Gain-
GLIPR1L1-
-
-
-
3Gain-
GLIPR1L2-
-
-
-
3Gain-
GLIS1-
-
-
-
3Gain-
GLIS2-
-
-
-
1Loss-
GLMN-
-
-
-
6Amp-
GLOD4-
-
-
-
3Gain-
GLP2R-
-
-
-
3Gain-
GLTPD2-
-
-
-
3Gain-
GLYR1-
-
-
-
1Loss-
GMEB1-
-
-
-
3Gain-
GMEB2-
-
-
-
3Gain-
GMFG-
-
-
-
3Gain-
GMNC-
-
-
-
3Gain-
GMPS-
-
-
-
3Gain-
GNA13-
-
-
-
3Gain-
GNA14p.E66K
Missense
SNP
0.355
2--
GNAI3-
-
-
-
5Amp-
GNAL-
-
-
-
3Gain-
GNAS-
-
-
-
3Gain-
GNAT2-
-
-
-
5Amp-
GNB1-
-
-
-
3Gain-
GNB4-
-
-
-
3Gain-
GNG12-
-
-
-
3Gain-
GNG5-
-
-
-
3Gain-
GNL2-
-
-
-
3Gain-
GOLGA6A-
-
-
-
1Loss-
GOLGA6B-
-
-
-
1Loss-
GOLGA6C-
-
-
-
1Loss-
GOLGA6D-
-
-
-
1Loss-
GOLGA6L10-
-
-
-
1Loss-
GOLGB1-
-
-
-
3Gain-
GOLIM4-
-
-
-
3Gain-
GOLPH3L-
-
-
-
3Gain-
GOLT1Ap.G93E
Missense
SNP
0.252
2--
GP1BA-
-
-
-
3Gain-
GP2-
-
-
-
1Loss-
GP5-
-
-
-
3Gain-
GP9-
-
-
-
3Gain-
GPALPP1-
-
-
-
1Loss-
GPAT3-
-
-
-
1Loss-
GPATCH1-
-
-
-
3Gain-
GPATCH3-
-
-
-
3Gain-
GPBP1L1-
-
-
-
3Gain-
GPC5-
-
-
-
1Loss-
GPC6p.R524Q
Missense
SNP
0.919
1Loss-
GPI-
-
-
-
3Gain-
GPN2-
-
-
-
3Gain-
GPR12-
-
-
-
1Loss-
GPR139-
-
-
-
1Loss-
GPR142-
-
-
-
3Gain-
GPR149-
-
-
-
3Gain-
GPR15-
-
-
-
3Gain-
GPR151p.P169L
Missense
SNP
0.583
2--
GPR153-
-
-
-
3Gain-
GPR156-
-
-
-
3Gain-
GPR157-
-
-
-
3Gain-
GPR160-
-
-
-
3Gain-
GPR171-
-
-
-
3Gain-
GPR18-
-
-
-
1Loss-
GPR180-
-
-
-
1Loss-
GPR183-
-
-
-
1Loss-
GPR3-
-
-
-
3Gain-
GPR31-
-
-
-
4Gain-
GPR42-
-
-
-
3Gain-
GPR61-
-
-
-
5Amp-
GPR78-
-
-
-
1Loss-
GPR87-
-
-
-
3Gain-
GPR88-
-
-
-
6Amp-
GPR89A-
-
-
-
3Gain-
GPR89B-
-
-
-
3Gain-
GPRC5B-
-
-
-
1Loss-
GPRC5C-
-
-
-
3Gain-
GPRIN3-
-
-
-
1Loss-
GPS2-
-
-
-
3Gain-
GPSM2-
-
-
-
5Amp-
GPX6p.G44E
Missense
SNP
0.467
2--
GPX7-
-
-
-
3Gain-
GRAMD1A-
-
-
-
3Gain-
GRAMD1C-
-
-
-
3Gain-
GRAMD2A-
-
-
-
1Loss-
GRAMD3p.E137K
Missense
SNP
0.267
NDND-
GRAP-
-
-
-
3Gain-
GRAPL-
-
-
-
3Gain-
GRB2-
-
-
-
3Gain-
GREB1L-
-
-
-
3Gain-
GRHL3-
-
-
-
3Gain-
GRIA1p.G908E
Missense
SNP
0.269
2--
GRID2-
-
-
-
1Loss-
GRIK2p.R458*
Nonsense
SNP
0.593
2--
GRIK3-
-
-
-
3Gain-
GRIK5-
-
-
-
3Gain-
GRIN2A-
-
-
-
4Gain-
GRIN2C-
-
-
-
3Gain-
GRK1-
-
-
-
1Loss-
GRK7-
-
-
-
3Gain-
GRP-
-
-
-
1Loss-
GRTP1-
-
-
-
1Loss-
GSDMCp.R40Q
Missense
SNP
0.306
2--
GSG1L-
-
-
-
1Loss-
GSG1L2-
-
-
-
3Gain-
GSK3A-
-
-
-
3Gain-
GSK3B-
-
-
-
3Gain-
GSPT1-
-
-
-
6Amp-
GSTM2-
-
-
-
5Amp-
GSTM3-
-
-
-
5Amp-
GSTM4-
-
-
-
5Amp-
GSTM5-
-
-
-
5Amp-
GSX1-
-
-
-
1Loss-
GTF2B-
-
-
-
3Gain-
GTF2E1-
-
-
-
3Gain-
GTF2F2-
-
-
-
1Loss-
GTF3A-
-
-
-
1Loss-
GTF3C1-
-
-
-
1Loss-
GTF3C6-
-
-
-
3Gain-
GTPBP8-
-
-
-
3Gain-
GUCA1C-
-
-
-
3Gain-
GUCA2A-
-
-
-
3Gain-
GUCA2B-
-
-
-
3Gain-
GUCY2D-
-
-
-
3Gain-
GYG1-
-
-
-
3Gain-
GYS2p.R386Q
Missense
SNP
0.574
2--
H1FOO-
-
-
-
3Gain-
H1FX-
-
-
-
3Gain-
H2AFZ-
-
-
-
1Loss-
H3F3B-
-
-
-
3Gain-
H6PD-
-
-
-
3Gain-
HACD2-
-
-
-
3Gain-
HAL-
-
-
-
3Gain-
HAMP-
-
-
-
3Gain-
HAO2p.E330K
Missense
SNP
0.342
5Amp-
HASPIN-
-
-
-
3Gain-
HAUS1-
-
-
-
1Loss-
HAUS5-
-
-
-
3Gain-
HCFC1R1-
-
-
-
1Loss-
HCLS1-
-
-
-
3Gain-
HCN2p.E598K
Missense
SNP
0.391
2--
HCN4p.P281L
Missense
SNP
0.400
1Loss-
HCRTR1-
-
-
-
3Gain-
HCST-
-
-
-
3Gain-
HDAC1-
-
-
-
3Gain-
HDDC3-
-
-
-
3Gain-
HDGFL3-
-
-
-
1Loss-
HDHD2-
-
-
-
1Loss-
HEATR6-
-
-
-
3Gain-
HECTD3-
-
-
-
3Gain-
HEG1-
-
-
-
3Gain-
HELQ-
-
-
-
1Loss-
HELZ-
-
-
-
3Gain-
HELZ2p.Q369H
Missense
SNP
0.512
3Gain-
HENMT1-
-
-
-
5Amp-
HERC3-
-
-
-
1Loss-
HERC5-
-
-
-
1Loss-
HERC6-
-
-
-
1Loss-
HES1-
-
-
-
3Gain-
HES2-
-
-
-
3Gain-
HES3-
-
-
-
3Gain-
HES4-
-
-
-
3Gain-
HES5-
-
-
-
3Gain-
HES7-
-
-
-
3Gain-
HEXA-
-
-
-
1Loss-
HEYL-
-
-
-
3Gain-
HFM1-
-
-
-
6Amp-
HGD-
-
-
-
3Gain-
HHLA2-
-
-
-
3Gain-
HHLA3-
-
-
-
3Gain-
HIC1-
-
-
-
3Gain-
HID1-
-
-
-
3Gain-
HIGD2B-
-
-
-
1Loss-
HIPK1-
-
-
-
5Amp-
HIPK4-
-
-
-
3Gain-
HIRIP3-
-
-
-
1Loss-
HIST2H2AA3-
-
-
-
3Gain-
HIST2H2AA4-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
3Gain-
HIST2H2BE-
-
-
-
3Gain-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
3Gain-
HIST2H3C-
-
-
-
3Gain-
HIST2H3D-
-
-
-
3Gain-
HIST2H4A-
-
-
-
3Gain-
HIST2H4B-
-
-
-
3Gain-
HIST3H3p.E98K
Missense
SNP
0.575
2--
HIVEP3-
-
-
-
3Gain-
HJV-
-
-
-
3Gain-
HKR1-
-
-
-
3Gain-
HLF-
-
-
-
3Gain-
HLTF-
-
-
-
3Gain-
HMCES-
-
-
-
3Gain-
HMG20A-
-
-
-
1Loss-
HMGB1-
-
-
-
1Loss-
HMGB4-
-
-
-
6Amp-
HMGCL-
-
-
-
3Gain-
HMGCLL1p.E67K
Missense
SNP
0.352
2--
HMGCS2-
-
-
-
5Amp-
HMGN2-
-
-
-
3Gain-
HMGN3-
-
-
-
3Gain-
HMOX2-
-
-
-
1Loss-
HMSD-
-
-
-
1Loss-
HMX1-
-
-
-
1Loss-
HNRNPCL1-
-
-
-
3Gain-
HNRNPCL2p.S13F
Missense
SNP
0.775
3Gain-
HNRNPCL3-
-
-
-
3Gain-
HNRNPCL4-
-
-
-
3Gain-
HNRNPD-
-
-
-
1Loss-
HNRNPDL-
-
-
-
1Loss-
HNRNPL-
-
-
-
3Gain-
HNRNPR-
-
-
-
3Gain-
HNRNPUL1-
-
-
-
3Gain-
HOMER2-
-
-
-
1Loss-
HOOK1-
-
-
-
3Gain-
HORMAD1-
-
-
-
3Gain-
HP1BP3-
-
-
-
3Gain-
HPCA-
-
-
-
3Gain-
HPCAL4-
-
-
-
3Gain-
HPDL-
-
-
-
3Gain-
HPGDS-
-
-
-
1Loss-
HPN-
-
-
-
3Gain-
HPS3-
-
-
-
3Gain-
HPSE-
-
-
-
1Loss-
HRp.R139W
Missense
SNP
0.411
2--
HRASLS-
-
-
-
3Gain-
HRGp.P317L
Missense
SNP
0.261
3Gain-
HRH3-
-
-
-
3Gain-
HRH4-
-
-
-
3Gain-
HRNR-
-
-
-
3Gain-
HS2ST1-
-
-
-
3Gain-
HS3ST2-
-
-
-
1Loss-
HS3ST3A1p.G369S
Missense
SNP
0.620
3Gain-
HS3ST3B1-
-
-
-
3Gain-
HS3ST4-
-
-
-
1Loss-
HS6ST3-
-
-
-
1Loss-
HSBP1L1-
-
-
-
1Loss-
HSD17B11-
-
-
-
1Loss-
HSD17B13-
-
-
-
1Loss-
HSD3B1-
-
-
-
5Amp-
HSD3B2-
-
-
-
5Amp-
HSD3B7-
-
-
-
1Loss-
HSF2p.T446I
Missense
SNP
0.298
2--
HSF5-
-
-
-
3Gain-
HSPB11-
-
-
-
3Gain-
HSPB6-
-
-
-
3Gain-
HSPB7-
-
-
-
3Gain-
HSPBAP1-
-
-
-
3Gain-
HSPG2-
-
-
-
3Gain-
HSPH1-
-
-
-
1Loss-
HTR1B-
-
-
-
3Gain-
HTR1D-
-
-
-
3Gain-
HTR2A-
-
-
-
1Loss-
HTR3C-
-
-
-
3Gain-
HTR3D-
-
-
-
3Gain-
HTR3E-
-
-
-
3Gain-
HTR6-
-
-
-
3Gain-
HTRA3-
-
-
-
1Loss-
HYI-
-
-
-
3Gain-
HYKK-
-
-
-
1Loss-
IBSP-
-
-
-
1Loss-
IBTK-
-
-
-
3Gain-
ICAM2-
-
-
-
3Gain-
ICMT-
-
-
-
3Gain-
ID3-
-
-
-
3Gain-
IDH3A-
-
-
-
1Loss-
IER3IP1-
-
-
-
1Loss-
IFFO2-
-
-
-
3Gain-
IFI44-
-
-
-
3Gain-
IFI44L-
-
-
-
3Gain-
IFI6-
-
-
-
3Gain-
IFNL1-
-
-
-
3Gain-
IFNL2-
-
-
-
3Gain-
IFNL3-
-
-
-
3Gain-
IFNLR1-
-
-
-
3Gain-
IFT122-
-
-
-
3Gain-
IFT57-
-
-
-
3Gain-
IFT80-
-
-
-
3Gain-
IFT88-
-
-
-
1Loss-
IGF1R-
-
-
-
3Gain-
IGF2BP2-
-
-
-
3Gain-
IGFLR1-
-
-
-
3Gain-
IGHV3OR16-9-
-
-
-
1Loss-
IGSF10-
-
-
-
3Gain-
IGSF11-
-
-
-
3Gain-
IGSF21-
-
-
-
3Gain-
IGSF3-
-
-
-
5Amp-
IGSF6-
-
-
-
1Loss-
IKBIP-
-
-
-
3Gain-
IL12A-
-
-
-
3Gain-
IL12RB2-
-
-
-
3Gain-
IL16-
-
-
-
1Loss-
IL17D-
-
-
-
1Loss-
IL1RAP-
-
-
-
3Gain-
IL20RB-
-
-
-
3Gain-
IL21R-
-
-
-
1Loss-
IL22RA1-
-
-
-
3Gain-
IL23R-
-
-
-
3Gain-
IL27-
-
-
-
1Loss-
IL32-
-
-
-
1Loss-
IL4R-
-
-
-
1Loss-
ILDR1p.E534K
Missense
SNP
0.254
3Gain-
ILF2-
-
-
-
3Gain-
IMP3-
-
-
-
1Loss-
IMPA2-
-
-
-
3Gain-
IMPACT-
-
-
-
3Gain-
IMPG1-
-
-
-
3Gain-
IMPG2-
-
-
-
3Gain-
INCA1-
-
-
-
3Gain-
ING1-
-
-
-
1Loss-
INKA2-
-
-
-
5Amp-
INO80C-
-
-
-
1Loss-
INO80E-
-
-
-
1Loss-
INPP4Bp.P582S
Missense
SNP
0.684
2--
INPP5B-
-
-
-
3Gain-
INPP5K-
-
-
-
3Gain-
INSL5-
-
-
-
3Gain-
INSYN1-
-
-
-
1Loss-
INTS11-
-
-
-
3Gain-
INTS2-
-
-
-
3Gain-
INTS3-
-
-
-
3Gain-
INTS6-
-
-
-
1Loss-
IPO13-
-
-
-
3Gain-
IPO5-
-
-
-
1Loss-
IPP-
-
-
-
3Gain-
IQCB1-
-
-
-
3Gain-
IQCC-
-
-
-
3Gain-
IQCG-
-
-
-
3Gain-
IQCJ-
-
-
-
3Gain-
IQCJ-SCHIP1-
-
-
-
3Gain-
IQCK-
-
-
-
1Loss-
IRAK1BP1-
-
-
-
3Gain-
IREB2-
-
-
-
1Loss-
IRS2-
-
-
-
1Loss-
ISG15p.S146G
Missense
SNP
0.113
3Gain-
ISL2-
-
-
-
1Loss-
ISLR-
-
-
-
1Loss-
ISLR2-
-
-
-
1Loss-
ISM2p.A472T
Missense
SNP
0.421
2--
ISY1-
-
-
-
3Gain-
ISY1-RAB43-
-
-
-
3Gain-
ITGA10-
-
-
-
3Gain-
ITGA8p.E164K
Missense
SNP
0.633
2--
ITGAD-
-
-
-
1Loss-
ITGAE-
-
-
-
3Gain-
ITGAL-
-
-
-
1Loss-
ITGAMp.R842Q
Missense
SNP
0.422
1Loss-
ITGAX-
-
-
-
1Loss-
ITGB3BP-
-
-
-
3Gain-
ITGB4-
-
-
-
3Gain-
ITGB5-
-
-
-
3Gain-
ITGBL1-
-
-
-
1Loss-
ITM2B-
-
-
-
1Loss-
ITPKC-
-
-
-
3Gain-
IVL-
-
-
-
3Gain-
IYD-
-
-
-
4Gain-
JAK1-
-
-
-
3Gain-
JMJD6-
-
-
-
3Gain-
JPT1-
-
-
-
3Gain-
JTB-
-
-
-
3Gain-
JUN-
-
-
-
3Gain-
KALRN-
-
-
-
3Gain-
KANK4-
-
-
-
3Gain-
KAT8-
-
-
-
1Loss-
KATNA1-
-
-
-
4Gain-
KATNAL1-
-
-
-
1Loss-
KATNAL2-
-
-
-
1Loss-
KAZN-
-
-
-
3Gain-
KBTBD12-
-
-
-
3Gain-
KBTBD6-
-
-
-
1Loss-
KBTBD7-
-
-
-
1Loss-
KCNA10-
-
-
-
5Amp-
KCNA2-
-
-
-
5Amp-
KCNA3-
-
-
-
5Amp-
KCNAB1-
-
-
-
3Gain-
KCNAB2-
-
-
-
3Gain-
KCNAB3-
-
-
-
3Gain-
KCNB1-
-
-
-
3Gain-
KCNC2-
-
-
-
3Gain-
KCNC4-
-
-
-
5Amp-
KCND3-
-
-
-
5Amp-
KCNG1-
-
-
-
3Gain-
KCNG2-
-
-
-
1Loss-
KCNH1p.G845E
Missense
SNP
0.229
2--
KCNH6-
-
-
-
3Gain-
KCNJ12-
-
-
-
3Gain-
KCNJ16-
-
-
-
3Gain-
KCNJ18-
-
-
-
3Gain-
KCNJ2-
-
-
-
3Gain-
KCNK6-
-
-
-
3Gain-
KCNMA1p.Q1184*
Nonsense
SNP
0.298
2--
KCNMB2-
-
-
-
3Gain-
KCNMB3-
-
-
-
3Gain-
KCNMB4-
-
-
-
3Gain-
KCNQ2p.P415S
Missense
SNP
0.290
3Gain-
KCNQ4-
-
-
-
3Gain-
KCNQ5-
-
-
-
5Amp-
KCNRG-
-
-
-
1Loss-
KCNV1p.E442K
Missense
SNP
0.598
2--
KCTD11-
-
-
-
3Gain-
KCTD12-
-
-
-
1Loss-
KCTD13-
-
-
-
1Loss-
KCTD15-
-
-
-
3Gain-
KCTD2-
-
-
-
3Gain-
KCTD4-
-
-
-
1Loss-
KCTD5-
-
-
-
1Loss-
KDELC1-
-
-
-
1Loss-
KDF1-
-
-
-
3Gain-
KDM1A-
-
-
-
3Gain-
KDM4A-
-
-
-
3Gain-
KDM6B-
-
-
-
3Gain-
KDM8-
-
-
-
1Loss-
KDSR-
-
-
-
1Loss-
KERA-
-
-
-
3Gain-
KHDC1-
-
-
-
5Amp-
KHDC1L-
-
-
-
5Amp-
KHDC3L-
-
-
-
5Amp-
KHDRBS1-
-
-
-
3Gain-
KIAA0319L-
-
-
-
6Amp-
KIAA0355-
-
-
-
3Gain-
KIAA0556-
-
-
-
1Loss-
KIAA0753-
-
-
-
3Gain-
KIAA1024-
-
-
-
1Loss-
KIAA1257p.D215N
Missense
SNP
0.613
3Gain-
KIAA1324-
-
-
-
5Amp-
KIAA1328-
-
-
-
1Loss-
KIAA1522-
-
-
-
3Gain-
KIAA2013-
-
-
-
3Gain-
KIF17-
-
-
-
3Gain-
KIF19-
-
-
-
3Gain-
KIF1B-
-
-
-
3Gain-
KIF1C-
-
-
-
3Gain-
KIF22-
-
-
-
1Loss-
KIF2C-
-
-
-
3Gain-
KIR2DS4p.R205L
Missense
SNP
0.578
NDND-
KIRREL2-
-
-
-
3Gain-
KITLG-
-
-
-
3Gain-
KL-
-
-
-
1Loss-
KLF12-
-
-
-
1Loss-
KLF15-
-
-
-
3Gain-
KLF17-
-
-
-
3Gain-
KLF5-
-
-
-
1Loss-
KLHDC7A-
-
-
-
3Gain-
KLHL1-
-
-
-
1Loss-
KLHL17-
-
-
-
3Gain-
KLHL21-
-
-
-
3Gain-
KLHL24-
-
-
-
3Gain-
KLHL6-
-
-
-
3Gain-
KLHL8-
-
-
-
1Loss-
KLK14p.S186F
Missense
SNP
0.315
2--
KMT2B-
-
-
-
3Gain-
KMT2Cp.S4626N
Missense
SNP
0.425
2--
KNCN-
-
-
-
3Gain-
KNDC1p.G1451S
Missense
SNP
0.333
1Loss-
KNG1-
-
-
-
3Gain-
KNOP1-
-
-
-
1Loss-
KPNA1-
-
-
-
3Gain-
KPNA2-
-
-
-
3Gain-
KPNA3-
-
-
-
1Loss-
KPNA4-
-
-
-
3Gain-
KPNA6-
-
-
-
3Gain-
KPNA7p.L247F
Missense
SNP
0.373
2--
KPRP-
-
-
-
3Gain-
KRBA2-
-
-
-
3Gain-
KREMEN2-
-
-
-
1Loss-
KRR1-
-
-
-
3Gain-
KRT23p.E346K
Missense
SNP
0.922
2--
KRT74p.G100E
Missense
SNP
0.573
2--
KRT84p.E294K
Missense
SNP
0.216
2--
KRTDAP-
-
-
-
3Gain-
KSR1p.P290S
Missense
SNP
1.000
2--
KTI12-
-
-
-
3Gain-
KY-
-
-
-
3Gain-
KYAT3-
-
-
-
3Gain-
L1TD1-
-
-
-
3Gain-
L3MBTL4-
-
-
-
3Gain-
LACC1-
-
-
-
1Loss-
LACTBL1-
-
-
-
3Gain-
LAMA1-
-
-
-
3Gain-
LAMA3-
-
-
-
3Gain-
LAMA4-
-
-
-
3Gain-
LAMA5-
-
-
-
3Gain-
LAMP1-
-
-
-
1Loss-
LAMP3-
-
-
-
3Gain-
LAMTOR3-
-
-
-
1Loss-
LAMTOR5-
-
-
-
5Amp-
LAPTM5-
-
-
-
3Gain-
LARP6-
-
-
-
1Loss-
LAT-
-
-
-
1Loss-
LATS1-
-
-
-
4Gain-
LATS2-
-
-
-
1Loss-
LCA5-
-
-
-
3Gain-
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1C-
-
-
-
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LCK-
-
-
-
3Gain-
LCMT1-
-
-
-
1Loss-
LCN9p.E98K
Missense
SNP
0.459
2--
LCP1-
-
-
-
1Loss-
LDLRAD1-
-
-
-
3Gain-
LDLRAD2-
-
-
-
3Gain-
LDLRAD4-
-
-
-
3Gain-
LDLRAP1-
-
-
-
3Gain-
LEKR1-
-
-
-
3Gain-
LELP1-
-
-
-
3Gain-
LEPR-
-
-
-
3Gain-
LEPROT-
-
-
-
3Gain-
LEUTX-
-
-
-
3Gain-
LEXM-
-
-
-
3Gain-
LGALS13-
-
-
-
3Gain-
LGALS14-
-
-
-
3Gain-
LGALS16-
-
-
-
3Gain-
LGALS4-
-
-
-
3Gain-
LGALS7-
-
-
-
3Gain-
LGALS7B-
-
-
-
3Gain-
LGALS9Bp.G80E
Missense
SNP
0.546
3Gain-
LGALS9C-
-
-
-
3Gain-
LGI4-
-
-
-
3Gain-
LGSNp.D322N
Missense
SNP
0.420
2--
LHFPL6-
-
-
-
1Loss-
LHX8p.G40E
Missense
SNP
0.147
3Gain-
LIG4-
-
-
-
1Loss-
LILRB4p.D61N
Missense
SNP
0.587
2--
LIMD2-
-
-
-
3Gain-
LIME1-
-
-
-
3Gain-
LIN28A-
-
-
-
3Gain-
LIN37-
-
-
-
3Gain-
LIN54-
-
-
-
1Loss-
LINGO1-
-
-
-
1Loss-
LINGO4-
-
-
-
3Gain-
LINS1-
-
-
-
3Gain-
LIPE-
-
-
-
3Gain-
LIPG-
-
-
-
1Loss-
LIPH-
-
-
-
3Gain-
LITAF-
-
-
-
6Amp-
LIX1L-
-
-
-
3Gain-
LKAAEAR1-
-
-
-
3Gain-
LLGL1-
-
-
-
3Gain-
LLGL2-
-
-
-
3Gain-
LMAN1-
-
-
-
1Loss-
LMAN1L-
-
-
-
1Loss-
LMLN-
-
-
-
3Gain-
LMO4-
-
-
-
3Gain-
LMO7-
-
-
-
1Loss-
LNP1-
-
-
-
3Gain-
LNX2-
-
-
-
1Loss-
LOR-
-
-
-
3Gain-
LOXHD1p.P10S
Missense
SNP
0.406
1Loss-
LOXL1-
-
-
-
1Loss-
LPAp.G1316S
Missense
SNP
0.545
2--
LPAR3-
-
-
-
3Gain-
LPAR6-
-
-
-
1Loss-
LPO-
-
-
-
3Gain-
LPP-
-
-
-
3Gain-
LRCH1-
-
-
-
1Loss-
LRCH3p.L613F
Missense
SNP
0.614
3Gain-
LRFN1-
-
-
-
3Gain-
LRFN3-
-
-
-
3Gain-
LRIF1-
-
-
-
5Amp-
LRIG2-
-
-
-
5Amp-
LRP1p.P776H
Missense
SNP
0.584
2--
LRP11-
-
-
-
4Gain-
LRP1Bp.R855K
p.G649E
Missense
Missense
SNP
SNP
0.478
0.462
2--
LRP2p.R4065Q
Missense
SNP
0.455
2--
LRP3-
-
-
-
3Gain-
LRP8-
-
-
-
3Gain-
LRRC10-
-
-
-
3Gain-
LRRC15-
-
-
-
3Gain-
LRRC28-
-
-
-
3Gain-
LRRC30-
-
-
-
3Gain-
LRRC31-
-
-
-
3Gain-
LRRC34-
-
-
-
3Gain-
LRRC37A3-
-
-
-
3Gain-
LRRC38-
-
-
-
3Gain-
LRRC39-
-
-
-
6Amp-
LRRC40-
-
-
-
3Gain-
LRRC41-
-
-
-
3Gain-
LRRC42-
-
-
-
3Gain-
LRRC47-
-
-
-
3Gain-
LRRC49-
-
-
-
1Loss-
LRRC53-
-
-
-
3Gain-
LRRC58-
-
-
-
3Gain-
LRRC63-
-
-
-
1Loss-
LRRC66p.E605K
Missense
SNP
0.573
2--
LRRC7p.S797L
p.P870Q
Missense
Missense
SNP
SNP
0.102
0.137
3Gain-
LRRC75A-
-
-
-
3Gain-
LRRC8B-
-
-
-
3Gain-
LRRC8C-
-
-
-
3Gain-
LRRC8D-
-
-
-
3Gain-
LRRIQ3-
-
-
-
3Gain-
LRRIQ4-
-
-
-
3Gain-
LRRK1-
-
-
-
3Gain-
LSAMP-
-
-
-
3Gain-
LSG1-
-
-
-
3Gain-
LSM10-
-
-
-
6Amp-
LSM14A-
-
-
-
3Gain-
LSM14B-
-
-
-
3Gain-
LSR-
-
-
-
3Gain-
LSSp.S408L
Missense
SNP
0.407
2--
LTA4H-
-
-
-
3Gain-
LTBP4-
-
-
-
3Gain-
LTV1-
-
-
-
5Amp-
LUM-
-
-
-
3Gain-
LURAP1-
-
-
-
3Gain-
LUZP1-
-
-
-
3Gain-
LXN-
-
-
-
3Gain-
LYPD3p.T256I
Missense
SNP
0.516
2--
LYPD4-
-
-
-
3Gain-
LYPLA2-
-
-
-
3Gain-
LYRM1-
-
-
-
1Loss-
LYSMD1-
-
-
-
3Gain-
LYSMD4-
-
-
-
3Gain-
LYZ-
-
-
-
3Gain-
LZIC-
-
-
-
3Gain-
MAATS1-
-
-
-
3Gain-
MAB21L1-
-
-
-
1Loss-
MAB21L3-
-
-
-
5Amp-
MACF1-
-
-
-
3Gain-
MACO1-
-
-
-
3Gain-
MAD2L2-
-
-
-
3Gain-
MAF1p.Y32C
Missense
SNP
0.257
2--
MAG-
-
-
-
3Gain-
MAGEC1p.P131S
Missense
SNP
0.796
NDND-
MAGEF1-
-
-
-
3Gain-
MAGI3-
-
-
-
5Amp-
MAGOH-
-
-
-
3Gain-
MALT1-
-
-
-
1Loss-
MAN1A2-
-
-
-
5Amp-
MAN1C1-
-
-
-
3Gain-
MAN2A2p.D153N
Missense
SNP
0.205
3Gain-
MAN2C1-
-
-
-
1Loss-
MANEAL-
-
-
-
3Gain-
MAP2K3-
-
-
-
3Gain-
MAP2K4-
-
-
-
3Gain-
MAP2K6-
-
-
-
3Gain-
MAP3K1p.S992F
Missense
SNP
0.296
2--
MAP3K10-
-
-
-
3Gain-
MAP3K13-
-
-
-
3Gain-
MAP3K3-
-
-
-
3Gain-
MAP3K6-
-
-
-
3Gain-
MAP4K1-
-
-
-
3Gain-
MAP6D1-
-
-
-
3Gain-
MAP7D1-
-
-
-
6Amp-
MAPK10-
-
-
-
1Loss-
MAPK3-
-
-
-
1Loss-
MAPK4-
-
-
-
1Loss-
MAPK7-
-
-
-
3Gain-
MAPK9p.S392L
Missense
SNP
0.476
2--
MAPRE2-
-
-
-
1Loss-
MARCH10-
-
-
-
3Gain-
MARCKSL1-
-
-
-
3Gain-
MARF1-
-
-
-
6Amp-
MASP1p.R637C
Missense
SNP
0.628
3Gain-
MASP2-
-
-
-
3Gain-
MAST2-
-
-
-
3Gain-
MAST4p.P825S
Missense
SNP
0.296
2--
MATN1-
-
-
-
3Gain-
MAZ-
-
-
-
1Loss-
MB21D2-
-
-
-
3Gain-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBD4-
-
-
-
3Gain-
MBNL1-
-
-
-
3Gain-
MBNL2-
-
-
-
1Loss-
MBP-
-
-
-
1Loss-
MC2R-
-
-
-
3Gain-
MC3R-
-
-
-
3Gain-
MC4R-
-
-
-
1Loss-
MC5R-
-
-
-
3Gain-
MCCC1-
-
-
-
3Gain-
MCF2L-
-
-
-
1Loss-
MCF2L2-
-
-
-
3Gain-
MCL1-
-
-
-
3Gain-
MCM2-
-
-
-
3Gain-
MCOLN2-
-
-
-
3Gain-
MCOLN3-
-
-
-
3Gain-
MCTP2-
-
-
-
3Gain-
ME2-
-
-
-
1Loss-
MEAF6-
-
-
-
3Gain-
MECOM-
-
-
-
3Gain-
MECR-
-
-
-
3Gain-
MED11-
-
-
-
3Gain-
MED12L-
-
-
-
3Gain-
MED13-
-
-
-
3Gain-
MED16p.F155L
Missense
SNP
0.419
2--
MED18-
-
-
-
3Gain-
MED23-
-
-
-
3Gain-
MED29-
-
-
-
3Gain-
MED31-
-
-
-
3Gain-
MED4-
-
-
-
1Loss-
MED8-
-
-
-
3Gain-
MED9-
-
-
-
3Gain-
MEDAG-
-
-
-
1Loss-
MEF2A-
-
-
-
3Gain-
MEFV-
-
-
-
1Loss-
MEGF6-
-
-
-
3Gain-
MEGF8p.S1160F
Missense
SNP
0.251
3Gain-
MELTF-
-
-
-
3Gain-
MEPEp.D371N
Missense
SNP
0.906
1Loss-
MESD-
-
-
-
1Loss-
METAP1-
-
-
-
1Loss-
METAP2-
-
-
-
3Gain-
METTL16-
-
-
-
3Gain-
METTL21C-
-
-
-
1Loss-
METTL23-
-
-
-
3Gain-
METTL2A-
-
-
-
3Gain-
METTL9-
-
-
-
1Loss-
MEX3B-
-
-
-
1Loss-
MEX3C-
-
-
-
1Loss-
MFAP2-
-
-
-
3Gain-
MFAP4-
-
-
-
3Gain-
MFN1-
-
-
-
3Gain-
MFN2-
-
-
-
3Gain-
MFSD1-
-
-
-
3Gain-
MFSD11-
-
-
-
3Gain-
MFSD14A-
-
-
-
6Amp-
MFSD2A-
-
-
-
3Gain-
MFSD4B-
-
-
-
3Gain-
MGAT4C-
-
-
-
3Gain-
MGAT5B-
-
-
-
3Gain-
MGLL-
-
-
-
3Gain-
MGRN1-
-
-
-
1Loss-
MIA-
-
-
-
3Gain-
MIA-RAB4B-
-
-
-
3Gain-
MIB1-
-
-
-
3Gain-
MIB2-
-
-
-
3Gain-
MICU2-
-
-
-
1Loss-
MIEF2-
-
-
-
3Gain-
MIER1-
-
-
-
3Gain-
MIF4GD-
-
-
-
3Gain-
MIGA1-
-
-
-
3Gain-
MIIP-
-
-
-
3Gain-
MILR1-
-
-
-
3Gain-
MINDY1-
-
-
-
3Gain-
MINDY4B-
-
-
-
3Gain-
MINK1-
-
-
-
3Gain-
MINOS1-
-
-
-
3Gain-
MINOS1-NBL1-
-
-
-
3Gain-
MIPEP-
-
-
-
1Loss-
MIS12-
-
-
-
3Gain-
MKNK1-
-
-
-
3Gain-
MKS1-
-
-
-
3Gain-
MLF1-
-
-
-
3Gain-
MLLT11-
-
-
-
3Gain-
MLNR-
-
-
-
1Loss-
MLST8-
-
-
-
1Loss-
MMACHC-
-
-
-
3Gain-
MMD-
-
-
-
3Gain-
MME-
-
-
-
3Gain-
MMEL1-
-
-
-
3Gain-
MMP1p.P266S
Missense
SNP
0.655
2--
MMP23B-
-
-
-
3Gain-
MMP25-
-
-
-
1Loss-
MMP9-
-
-
-
3Gain-
MMRN1-
-
-
-
1Loss-
MNT-
-
-
-
3Gain-
MOB3C-
-
-
-
3Gain-
MOCOS-
-
-
-
1Loss-
MOCS3-
-
-
-
3Gain-
MORC1-
-
-
-
3Gain-
MORF4L1-
-
-
-
1Loss-
MORN1-
-
-
-
3Gain-
MOSMO-
-
-
-
1Loss-
MOV10-
-
-
-
5Amp-
MOV10L1p.D697N
Missense
SNP
0.294
2--
MOXD1-
-
-
-
3Gain-
MPC1-
-
-
-
4Gain-
MPDU1-
-
-
-
3Gain-
MPHOSPH8-
-
-
-
1Loss-
MPI-
-
-
-
1Loss-
MPL-
-
-
-
3Gain-
MPO-
-
-
-
3Gain-
MPPE1-
-
-
-
3Gain-
MPRIP-
-
-
-
3Gain-
MPV17L-
-
-
-
6Amp-
MRAS-
-
-
-
3Gain-
MRC2-
-
-
-
3Gain-
MRGBP-
-
-
-
3Gain-
MRM3-
-
-
-
3Gain-
MRO-
-
-
-
1Loss-
MROH2Bp.V109F
Missense
SNP
0.254
2--
MROH7-
-
-
-
3Gain-
MROH7-TTC4-
-
-
-
3Gain-
MRPL1-
-
-
-
1Loss-
MRPL20-
-
-
-
3Gain-
MRPL3-
-
-
-
3Gain-
MRPL37-
-
-
-
3Gain-
MRPL38-
-
-
-
3Gain-
MRPL42-
-
-
-
3Gain-
MRPL47-
-
-
-
3Gain-
MRPL57-
-
-
-
1Loss-
MRPL58-
-
-
-
3Gain-
MRPL9-
-
-
-
3Gain-
MRPS12-
-
-
-
3Gain-
MRPS15-
-
-
-
6Amp-
MRPS18C-
-
-
-
1Loss-
MRPS21-
-
-
-
3Gain-
MRPS22-
-
-
-
3Gain-
MRPS23-
-
-
-
3Gain-
MRPS31-
-
-
-
1Loss-
MRPS7-
-
-
-
3Gain-
MRTFB-
-
-
-
6Amp-
MRTO4-
-
-
-
3Gain-
MS4A1p.E205K
Missense
SNP
0.356
2--
MSH4-
-
-
-
3Gain-
MSI2-
-
-
-
3Gain-
MSL2-
-
-
-
3Gain-
MSRB1-
-
-
-
1Loss-
MTCL1-
-
-
-
3Gain-
MTF1-
-
-
-
3Gain-
MTF2-
-
-
-
6Amp-
MTFR1L-
-
-
-
3Gain-
MTG1-
-
-
-
1Loss-
MTG2-
-
-
-
3Gain-
MTHFD1L-
-
-
-
4Gain-
MTHFD2L-
-
-
-
1Loss-
MTHFR-
-
-
-
3Gain-
MTHFS-
-
-
-
1Loss-
MTIF3-
-
-
-
1Loss-
MTMR11p.Q631*
Nonsense
SNP
0.129
3Gain-
MTMR4-
-
-
-
3Gain-
MTMR6-
-
-
-
1Loss-
MTO1-
-
-
-
5Amp-
MTOR-
-
-
-
3Gain-
MTRp.R1132W
Missense
SNP
0.643
2--
MTRF1-
-
-
-
1Loss-
MTTP-
-
-
-
1Loss-
MTUS2-
-
-
-
1Loss-
MUC13-
-
-
-
3Gain-
MUC16p.M11191I
p.E7661K
p.A6186T
p.G431E
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.493
0.534
0.522
0.491
2--
MUC20-
-
-
-
3Gain-
MUC4-
-
-
-
3Gain-
MUL1-
-
-
-
3Gain-
MUSKp.R189Q
Missense
SNP
0.339
2--
MUTYH-
-
-
-
3Gain-
MVP-
-
-
-
1Loss-
MXRA7-
-
-
-
3Gain-
MXRA8-
-
-
-
3Gain-
MYBBP1A-
-
-
-
3Gain-
MYBPC2p.S546W
Missense
SNP
0.291
2--
MYBPHL-
-
-
-
5Amp-
MYCBP-
-
-
-
3Gain-
MYCBP2-
-
-
-
1Loss-
MYCL-
-
-
-
3Gain-
MYCT1-
-
-
-
4Gain-
MYH1-
-
-
-
3Gain-
MYH10-
-
-
-
3Gain-
MYH11-
-
-
-
6Amp-
MYH13-
-
-
-
3Gain-
MYH15-
-
-
-
3Gain-
MYH2p.E868K
Missense
SNP
0.547
3Gain-
MYH3-
-
-
-
3Gain-
MYH4-
-
-
-
3Gain-
MYH8-
-
-
-
3Gain-
MYLK-
-
-
-
3Gain-
MYLPF-
-
-
-
1Loss-
MYNN-
-
-
-
3Gain-
MYO15A-
-
-
-
3Gain-
MYO15B-
-
-
-
3Gain-
MYO16-
-
-
-
1Loss-
MYO1C-
-
-
-
3Gain-
MYO5B-
-
-
-
1Loss-
MYO6-
-
-
-
3Gain-
MYO7Bp.R206C
Missense
SNP
0.368
2--
MYO9A-
-
-
-
1Loss-
MYOCD-
-
-
-
3Gain-
MYOM3p.Q1156*
Nonsense
SNP
0.113
3Gain-
MYRFL-
-
-
-
3Gain-
MYSM1-
-
-
-
3Gain-
MYT1-
-
-
-
3Gain-
MZT1-
-
-
-
1Loss-
N4BP2L1-
-
-
-
1Loss-
N4BP2L2-
-
-
-
1Loss-
NAA11-
-
-
-
1Loss-
NAA16-
-
-
-
1Loss-
NAA38-
-
-
-
3Gain-
NAA50-
-
-
-
3Gain-
NAA60-
-
-
-
1Loss-
NAAA-
-
-
-
1Loss-
NAALADL2-
-
-
-
3Gain-
NACA2-
-
-
-
3Gain-
NADK-
-
-
-
3Gain-
NAGPA-
-
-
-
1Loss-
NALCN-
-
-
-
1Loss-
NAP1L1-
-
-
-
3Gain-
NAP1L5-
-
-
-
1Loss-
NAPG-
-
-
-
3Gain-
NARS-
-
-
-
1Loss-
NASP-
-
-
-
3Gain-
NAT9-
-
-
-
3Gain-
NATD1-
-
-
-
3Gain-
NAV3p.D1198Y
Missense
SNP
0.644
3Gain-
NAXD-
-
-
-
1Loss-
NBEA-
-
-
-
1Loss-
NBL1-
-
-
-
3Gain-
NBPF1-
-
-
-
3Gain-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
3Gain-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
3Gain-
NBPF26-
-
-
-
5Amp-
NBPF3-
-
-
-
3Gain-
NBPF4-
-
-
-
5Amp-
NBPF6-
-
-
-
5Amp-
NBPF9-
-
-
-
3Gain-
NCBP2-
-
-
-
3Gain-
NCBP2-AS2-
-
-
-
3Gain-
NCBP3-
-
-
-
3Gain-
NCCRP1-
-
-
-
3Gain-
NCDN-
-
-
-
6Amp-
NCEH1-
-
-
-
3Gain-
NCK1-
-
-
-
3Gain-
NCKAP5p.R120Q
Missense
SNP
0.437
2--
NCMAP-
-
-
-
3Gain-
NCOA3-
-
-
-
3Gain-
NCOA5-
-
-
-
3Gain-
NCOR1-
-
-
-
3Gain-
NCOR2p.D2496E
Missense
SNP
0.575
2--
NDC1-
-
-
-
3Gain-
NDE1-
-
-
-
6Amp-
NDEL1-
-
-
-
3Gain-
NDFIP2-
-
-
-
1Loss-
NDUFA12-
-
-
-
3Gain-
NDUFAB1-
-
-
-
1Loss-
NDUFB10-
-
-
-
1Loss-
NDUFB4-
-
-
-
3Gain-
NDUFB5-
-
-
-
3Gain-
NDUFS5-
-
-
-
3Gain-
NDUFV2-
-
-
-
3Gain-
NECAP2-
-
-
-
3Gain-
NECTIN3-
-
-
-
3Gain-
NEDD1-
-
-
-
3Gain-
NEDD4L-
-
-
-
1Loss-
NEGR1-
-
-
-
3Gain-
NEIL1-
-
-
-
1Loss-
NEK11-
-
-
-
3Gain-
NEK3-
-
-
-
1Loss-
NEK5-
-
-
-
1Loss-
NELFCD-
-
-
-
3Gain-
NEO1-
-
-
-
1Loss-
NEPRO-
-
-
-
3Gain-
NETO1-
-
-
-
1Loss-
NEURL4-
-
-
-
3Gain-
NEXN-
-
-
-
3Gain-
NF1p.G2001E
Missense
SNP
0.924
2--
NFASCp.E111K
Missense
SNP
0.255
2--
NFAT5p.S719N
Missense
SNP
0.506
2--
NFATC1-
-
-
-
1Loss-
NFATC2-
-
-
-
3Gain-
NFATC2IP-
-
-
-
1Loss-
NFIA-
-
-
-
3Gain-
NFKBIB-
-
-
-
3Gain-
NFKBID-
-
-
-
3Gain-
NFKBIZ-
-
-
-
3Gain-
NFYC-
-
-
-
3Gain-
NGF-
-
-
-
5Amp-
NHLH2-
-
-
-
5Amp-
NHLRC3-
-
-
-
1Loss-
NIPAL3-
-
-
-
3Gain-
NIT2-
-
-
-
3Gain-
NKAIN1-
-
-
-
3Gain-
NKAIN4-
-
-
-
3Gain-
NKX6-1-
-
-
-
1Loss-
NLGN1-
-
-
-
3Gain-
NLGN2-
-
-
-
3Gain-
NLRC3-
-
-
-
1Loss-
NLRP1-
-
-
-
3Gain-
NLRP14p.G434R
Missense
SNP
0.484
2--
NMB-
-
-
-
1Loss-
NMD3-
-
-
-
3Gain-
NME9-
-
-
-
3Gain-
NMNAT1-
-
-
-
3Gain-
NMNAT3-
-
-
-
3Gain-
NMRAL1-
-
-
-
1Loss-
NOC2L-
-
-
-
3Gain-
NOG-
-
-
-
3Gain-
NOL11-
-
-
-
3Gain-
NOL4-
-
-
-
1Loss-
NOL9-
-
-
-
3Gain-
NOMO1-
-
-
-
6Amp-
NOMO2-
-
-
-
6Amp-
NOMO3-
-
-
-
6Amp-
NOS3p.S44F
Missense
SNP
0.318
2--
NOTCH1p.Q300*
Nonsense
SNP
0.888
2--
NOTCH2-
-
-
-
5Amp-
NOTCH2NLA-
-
-
-
3Gain-
NOTCH3p.R1036*
Nonsense
SNP
0.424
2--
NOXO1-
-
-
-
1Loss-
NPBWR2-
-
-
-
3Gain-
NPC1-
-
-
-
3Gain-
NPEPL1-
-
-
-
3Gain-
NPHP3-
-
-
-
3Gain-
NPHP3-ACAD11-
-
-
-
3Gain-
NPHP4-
-
-
-
3Gain-
NPHS1-
-
-
-
3Gain-
NPIPB11-
-
-
-
1Loss-
NPIPB12-
-
-
-
1Loss-
NPIPB13-
-
-
-
1Loss-
NPIPB2-
-
-
-
6Amp-
NPIPB3-
-
-
-
1Loss-
NPIPB4-
-
-
-
1Loss-
NPIPB5-
-
-
-
1Loss-
NPPA-
-
-
-
3Gain-
NPPB-
-
-
-
3Gain-
NPR1-
-
-
-
3Gain-
NPTN-
-
-
-
1Loss-
NPW-
-
-
-
1Loss-
NPY1Rp.P223L
Missense
SNP
0.274
2--
NR0B2-
-
-
-
3Gain-
NR1I2-
-
-
-
3Gain-
NR2C1-
-
-
-
3Gain-
NR2E3-
-
-
-
1Loss-
NR2F2-
-
-
-
3Gain-
NR3C2p.M668I
Missense
SNP
0.562
2--
NRASp.R68S
p.G13D
Missense
Missense
SNP
SNP
0.229
0.737
5Amp-
NRDC-
-
-
-
3Gain-
NRG4-
-
-
-
1Loss-
NRROS-
-
-
-
3Gain-
NRXN1p.P1413L
Missense
SNP
0.427
2--
NSMCE1-
-
-
-
1Loss-
NSUN3-
-
-
-
3Gain-
NSUN4-
-
-
-
3Gain-
NT5C-
-
-
-
3Gain-
NT5C1A-
-
-
-
3Gain-
NT5M-
-
-
-
3Gain-
NTAN1-
-
-
-
6Amp-
NTHL1-
-
-
-
1Loss-
NTN1-
-
-
-
3Gain-
NTN3-
-
-
-
1Loss-
NTN4-
-
-
-
3Gain-
NTNG1-
-
-
-
5Amp-
NTS-
-
-
-
3Gain-
NTSR1-
-
-
-
3Gain-
NUBP1-
-
-
-
6Amp-
NUDC-
-
-
-
3Gain-
NUDT15-
-
-
-
1Loss-
NUDT16-
-
-
-
3Gain-
NUDT16L1-
-
-
-
1Loss-
NUDT17-
-
-
-
3Gain-
NUDT19-
-
-
-
3Gain-
NUDT4-
-
-
-
3Gain-
NUDT4B-
-
-
-
3Gain-
NUDT9-
-
-
-
1Loss-
NUFIP1-
-
-
-
1Loss-
NUMBL-
-
-
-
3Gain-
NUP210L-
-
-
-
3Gain-
NUP43-
-
-
-
4Gain-
NUP54-
-
-
-
1Loss-
NUP58-
-
-
-
1Loss-
NUP85-
-
-
-
3Gain-
NUP88-
-
-
-
3Gain-
NUPR1-
-
-
-
1Loss-
NXN-
-
-
-
3Gain-
NXPE3-
-
-
-
3Gain-
OAZ3-
-
-
-
3Gain-
OCSTAMP-
-
-
-
3Gain-
ODAPH-
-
-
-
1Loss-
ODF2L-
-
-
-
3Gain-
ODF3L1-
-
-
-
1Loss-
ODF4-
-
-
-
3Gain-
OGFR-
-
-
-
3Gain-
OGFRL1-
-
-
-
3Gain-
OLFM3-
-
-
-
6Amp-
OLFM4-
-
-
-
1Loss-
OLFML3-
-
-
-
5Amp-
OMA1-
-
-
-
3Gain-
ONECUT2-
-
-
-
1Loss-
OOEP-
-
-
-
5Amp-
OPA1-
-
-
-
3Gain-
OPN3p.S294L
Missense
SNP
0.667
2--
OPRD1-
-
-
-
3Gain-
OPRL1-
-
-
-
3Gain-
OR13C8p.G233E
p.E273K
Missense
Missense
SNP
SNP
0.386
0.385
2--
OR1A1-
-
-
-
3Gain-
OR1A2-
-
-
-
3Gain-
OR1D2-
-
-
-
3Gain-
OR1D5-
-
-
-
3Gain-
OR1E1-
-
-
-
3Gain-
OR1E2-
-
-
-
3Gain-
OR1F1-
-
-
-
1Loss-
OR1G1p.H311Y
Missense
SNP
0.244
3Gain-
OR2A14p.R121C
Missense
SNP
0.400
2--
OR2A4-
-
-
-
3Gain-
OR2C1-
-
-
-
1Loss-
OR2T8p.S8F
Missense
SNP
0.307
2--
OR3A1-
-
-
-
3Gain-
OR3A2-
-
-
-
3Gain-
OR3A3-
-
-
-
3Gain-
OR4A5p.D18N
Missense
SNP
0.483
2--
OR4C6p.L61P
Missense
SNP
0.316
2--
OR4D1-
-
-
-
3Gain-
OR4D2-
-
-
-
3Gain-
OR4D5p.S217L
Missense
SNP
0.551
2--
OR4D9p.L85F
Missense
SNP
0.325
2--
OR4F5-
-
-
-
3Gain-
OR51T1p.T27A
Missense
SNP
0.363
2--
OR5AC2-
-
-
-
3Gain-
OR5H1-
-
-
-
3Gain-
OR5H14-
-
-
-
3Gain-
OR5H15-
-
-
-
3Gain-
OR5H2-
-
-
-
3Gain-
OR5H6-
-
-
-
3Gain-
OR5K1-
-
-
-
3Gain-
OR5K2-
-
-
-
3Gain-
OR5K3-
-
-
-
3Gain-
OR5K4p.M198I
Missense
SNP
0.624
3Gain-
OR5M8p.E21K
Missense
SNP
0.314
2--
OR6C3p.R231K
Missense
SNP
0.435
2--
OR7D4p.P181L
Missense
SNP
0.480
2--
OR8J1p.S312F
Missense
SNP
0.313
2--
OR9K2p.P291S
Missense
SNP
0.254
2--
ORAI2p.S153F
Missense
SNP
0.399
2--
ORAI3-
-
-
-
1Loss-
ORC1-
-
-
-
3Gain-
OSBPL11-
-
-
-
3Gain-
OSBPL1A-
-
-
-
3Gain-
OSBPL2-
-
-
-
3Gain-
OSBPL8-
-
-
-
3Gain-
OSBPL9-
-
-
-
3Gain-
OSCP1-
-
-
-
6Amp-
OSTN-
-
-
-
3Gain-
OTOA-
-
-
-
1Loss-
OTOL1-
-
-
-
3Gain-
OTOP2-
-
-
-
3Gain-
OTOP3-
-
-
-
3Gain-
OTUD3-
-
-
-
3Gain-
OTUD7B-
-
-
-
3Gain-
OVCA2-
-
-
-
3Gain-
OVGP1-
-
-
-
5Amp-
OVOL3-
-
-
-
3Gain-
OXCT2-
-
-
-
3Gain-
OXGR1-
-
-
-
1Loss-
P2RX1-
-
-
-
3Gain-
P2RX5-
-
-
-
3Gain-
P2RX5-TAX1BP3-
-
-
-
3Gain-
P2RY1-
-
-
-
3Gain-
P2RY12-
-
-
-
3Gain-
P2RY13-
-
-
-
3Gain-
P2RY14-
-
-
-
3Gain-
P3H1-
-
-
-
3Gain-
P3H2-
-
-
-
3Gain-
PABPC3-
-
-
-
1Loss-
PABPC4-
-
-
-
3Gain-
PACRG-
-
-
-
3Gain-
PADI1-
-
-
-
3Gain-
PADI2-
-
-
-
3Gain-
PADI3-
-
-
-
3Gain-
PADI4-
-
-
-
3Gain-
PADI6p.P106L
Missense
SNP
0.795
3Gain-
PAF1-
-
-
-
3Gain-
PAFAH1B1-
-
-
-
3Gain-
PAFAH1B3-
-
-
-
3Gain-
PAFAH2-
-
-
-
3Gain-
PAGR1-
-
-
-
1Loss-
PAK2-
-
-
-
3Gain-
PAK4-
-
-
-
3Gain-
PALB2-
-
-
-
1Loss-
PALMD-
-
-
-
6Amp-
PAM16-
-
-
-
1Loss-
PAN3-
-
-
-
1Loss-
PANK4-
-
-
-
3Gain-
PAOX-
-
-
-
1Loss-
PAQR3-
-
-
-
1Loss-
PAQR4-
-
-
-
1Loss-
PAQR7-
-
-
-
3Gain-
PAQR9-
-
-
-
3Gain-
PARD3Bp.R865K
Missense
SNP
0.461
2--
PARD6B-
-
-
-
3Gain-
PARD6G-
-
-
-
1Loss-
PARK7-
-
-
-
3Gain-
PARL-
-
-
-
3Gain-
PARM1-
-
-
-
1Loss-
PARN-
-
-
-
6Amp-
PARP14-
-
-
-
3Gain-
PARP15-
-
-
-
3Gain-
PARP4-
-
-
-
1Loss-
PARP6-
-
-
-
1Loss-
PARP9-
-
-
-
3Gain-
PARS2-
-
-
-
3Gain-
PATJ-
-
-
-
3Gain-
PAX7-
-
-
-
3Gain-
PCCA-
-
-
-
1Loss-
PCCB-
-
-
-
3Gain-
PCDH17-
-
-
-
1Loss-
PCDH19p.R376C
Missense
SNP
0.670
NDND-
PCDH20-
-
-
-
1Loss-
PCDH8-
-
-
-
1Loss-
PCDH9-
-
-
-
1Loss-
PCDHA1p.S680L
Missense
SNP
0.297
2--
PCDHA8p.R428Q
Missense
SNP
0.293
2--
PCDHB2p.G72E
Missense
SNP
0.662
2--
PCDHB4p.G118E
Missense
SNP
0.284
2--
PCDHGA3p.R65C
Missense
SNP
0.562
2--
PCDHGA7p.S302L
Missense
SNP
0.616
2--
PCGF2p.E204K
Missense
SNP
0.987
2--
PCID2-
-
-
-
1Loss-
PCK1-
-
-
-
3Gain-
PCLOp.P4663L
p.E4551K
p.E4454K
p.H4147Y
p.S2384F
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
0.385
0.402
0.430
0.401
0.500
2--
PCMT1-
-
-
-
4Gain-
PCMTD2-
-
-
-
3Gain-
PCNP-
-
-
-
3Gain-
PCOLCE2p.L73F
Missense
SNP
0.281
3Gain-
PCSK6-
-
-
-
3Gain-
PCSK9-
-
-
-
3Gain-
PCTP-
-
-
-
3Gain-
PCYT1A-
-
-
-
3Gain-
PDCD10-
-
-
-
3Gain-
PDCD2L-
-
-
-
3Gain-
PDCD5-
-
-
-
3Gain-
PDE10A-
-
-
-
4Gain-
PDE4B-
-
-
-
3Gain-
PDE4DIPp.R1355Q
Missense
SNP
0.146
3Gain-
PDE6Ap.G345R
Missense
SNP
0.412
2--
PDE6Bp.D65N
Missense
SNP
0.298
2--
PDE8A-
-
-
-
1Loss-
PDHA2-
-
-
-
1Loss-
PDIA5-
-
-
-
3Gain-
PDIK1L-
-
-
-
3Gain-
PDILT-
-
-
-
1Loss-
PDLIM5-
-
-
-
1Loss-
PDPK1-
-
-
-
1Loss-
PDPN-
-
-
-
3Gain-
PDS5B-
-
-
-
1Loss-
PDX1-
-
-
-
1Loss-
PDXDC1-
-
-
-
6Amp-
PDZD9-
-
-
-
1Loss-
PDZK1-
-
-
-
3Gain-
PDZK1IP1-
-
-
-
3Gain-
PEAK1-
-
-
-
1Loss-
PECAM1-
-
-
-
3Gain-
PEF1-
-
-
-
3Gain-
PELI2p.H388Y
Missense
SNP
0.453
2--
PELP1-
-
-
-
3Gain-
PEMT-
-
-
-
3Gain-
PEPD-
-
-
-
3Gain-
PER1-
-
-
-
3Gain-
PER3-
-
-
-
3Gain-
PERM1-
-
-
-
3Gain-
PEX10-
-
-
-
3Gain-
PEX11B-
-
-
-
3Gain-
PEX14-
-
-
-
3Gain-
PEX3-
-
-
-
5Amp-
PEX5L-
-
-
-
3Gain-
PF4-
-
-
-
1Loss-
PF4V1-
-
-
-
1Loss-
PFAS-
-
-
-
3Gain-
PFDN4-
-
-
-
3Gain-
PFN1-
-
-
-
3Gain-
PFN2-
-
-
-
3Gain-
PGD-
-
-
-
3Gain-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGM1-
-
-
-
3Gain-
PGP-
-
-
-
1Loss-
PGPEP1L-
-
-
-
3Gain-
PHACTR2-
-
-
-
5Amp-
PHACTR3-
-
-
-
3Gain-
PHACTR4-
-
-
-
3Gain-
PHC2-
-
-
-
3Gain-
PHC3-
-
-
-
3Gain-
PHEXp.E726K
Missense
SNP
0.770
NDND-
PHF11-
-
-
-
1Loss-
PHF13-
-
-
-
3Gain-
PHF23-
-
-
-
3Gain-
PHGDH-
-
-
-
5Amp-
PHIP-
-
-
-
3Gain-
PHKBp.R890C
Missense
SNP
0.200
2--
PHKG2-
-
-
-
1Loss-
PHLDA1-
-
-
-
3Gain-
PHLDB2-
-
-
-
3Gain-
PHLPP1-
-
-
-
1Loss-
PHRF1p.P938S
Missense
SNP
0.448
2--
PHTF1-
-
-
-
5Amp-
PI4KB-
-
-
-
3Gain-
PIAS2-
-
-
-
1Loss-
PIAS3-
-
-
-
3Gain-
PIBF1-
-
-
-
1Loss-
PIEZO2-
-
-
-
3Gain-
PIF1p.A600V
Missense
SNP
0.327
2--
PIFO-
-
-
-
5Amp-
PIGK-
-
-
-
3Gain-
PIGL-
-
-
-
3Gain-
PIGN-
-
-
-
1Loss-
PIGV-
-
-
-
3Gain-
PIGX-
-
-
-
3Gain-
PIGY-
-
-
-
1Loss-
PIGZ-
-
-
-
3Gain-
PIK3C3-
-
-
-
1Loss-
PIK3CA-
-
-
-
3Gain-
PIK3CB-
-
-
-
3Gain-
PIK3CD-
-
-
-
3Gain-
PIK3R3-
-
-
-
3Gain-
PIK3R4-
-
-
-
3Gain-
PIMREG-
-
-
-
3Gain-
PINK1-
-
-
-
3Gain-
PIP5K1A-
-
-
-
3Gain-
PIRT-
-
-
-
3Gain-
PITHD1-
-
-
-
3Gain-
PITPNA-
-
-
-
3Gain-
PITPNC1-
-
-
-
3Gain-
PITPNM3-
-
-
-
3Gain-
PKD1-
-
-
-
1Loss-
PKD2-
-
-
-
1Loss-
PKHD1p.G470D
Missense
SNP
0.509
2--
PKHD1L1p.P2783S
Missense
SNP
0.561
2--
PKM-
-
-
-
1Loss-
PKMYT1-
-
-
-
1Loss-
PKN2-
-
-
-
3Gain-
PLA1A-
-
-
-
3Gain-
PLA2G10-
-
-
-
6Amp-
PLA2G2A-
-
-
-
3Gain-
PLA2G2C-
-
-
-
3Gain-
PLA2G2D-
-
-
-
3Gain-
PLA2G2E-
-
-
-
3Gain-
PLA2G2F-
-
-
-
3Gain-
PLA2G5-
-
-
-
3Gain-
PLAC8-
-
-
-
1Loss-
PLAGL1-
-
-
-
5Amp-
PLCB1p.E373K
Missense
SNP
0.457
2--
PLCB4p.G71E
Missense
SNP
0.366
2--
PLCH1p.R808W
Missense
SNP
0.188
3Gain-
PLCH2-
-
-
-
3Gain-
PLCL2p.A292V
Missense
SNP
0.451
2--
PLCXD2-
-
-
-
3Gain-
PLD1-
-
-
-
3Gain-
PLD2-
-
-
-
3Gain-
PLD3-
-
-
-
3Gain-
PLD6-
-
-
-
3Gain-
PLEKHF1-
-
-
-
3Gain-
PLEKHG1-
-
-
-
4Gain-
PLEKHG2-
-
-
-
3Gain-
PLEKHG5p.R718Q
Missense
SNP
0.118
3Gain-
PLEKHG7-
-
-
-
3Gain-
PLEKHM2-
-
-
-
3Gain-
PLEKHN1-
-
-
-
3Gain-
PLEKHO1-
-
-
-
3Gain-
PLEKHS1p.H363Y
Missense
SNP
0.612
2--
PLK1-
-
-
-
1Loss-
PLK3-
-
-
-
3Gain-
PLOD1-
-
-
-
3Gain-
PLOD2-
-
-
-
3Gain-
PLPP3-
-
-
-
3Gain-
PLPPR4-
-
-
-
6Amp-
PLPPR5-
-
-
-
6Amp-
PLS1-
-
-
-
3Gain-
PLSCR1-
-
-
-
3Gain-
PLSCR2-
-
-
-
3Gain-
PLSCR3-
-
-
-
3Gain-
PLSCR4-
-
-
-
3Gain-
PLSCR5-
-
-
-
3Gain-
PLXNA1-
-
-
-
3Gain-
PLXNA4p.F1326L
Missense
SNP
0.403
2--
PLXNC1-
-
-
-
3Gain-
PLXND1-
-
-
-
3Gain-
PMAIP1-
-
-
-
1Loss-
PMEPA1-
-
-
-
3Gain-
PML-
-
-
-
1Loss-
PMP22-
-
-
-
3Gain-
PNPLA1p.S422L
Missense
SNP
0.471
2--
PNRC2-
-
-
-
3Gain-
POC1B-
-
-
-
3Gain-
POC1B-GALNT4-
-
-
-
3Gain-
PODN-
-
-
-
3Gain-
PODXL2-
-
-
-
3Gain-
POGLUT1-
-
-
-
3Gain-
POGZ-
-
-
-
3Gain-
POLG2-
-
-
-
3Gain-
POLI-
-
-
-
1Loss-
POLQ-
-
-
-
3Gain-
POLR1D-
-
-
-
1Loss-
POLR2A-
-
-
-
3Gain-
POLR2H-
-
-
-
3Gain-
POLR2I-
-
-
-
3Gain-
POLR3C-
-
-
-
3Gain-
POLR3E-
-
-
-
1Loss-
POLR3GL-
-
-
-
3Gain-
POMGNT1-
-
-
-
3Gain-
POMP-
-
-
-
1Loss-
POP4-
-
-
-
3Gain-
POPDC2-
-
-
-
3Gain-
POSTN-
-
-
-
1Loss-
POTEC-
-
-
-
3Gain-
POTEEp.R36K
Missense
SNP
0.388
2--
POTEHp.S52F
Missense
SNP
0.352
2--
POU2F2-
-
-
-
3Gain-
POU3F1-
-
-
-
3Gain-
POU4F1-
-
-
-
1Loss-
PPBP-
-
-
-
1Loss-
PPCDC-
-
-
-
1Loss-
PPCS-
-
-
-
3Gain-
PPDPF-
-
-
-
3Gain-
PPEF2-
-
-
-
1Loss-
PPFIA1p.R306Q
Missense
SNP
0.300
2--
PPIAL4A-
-
-
-
3Gain-
PPIAL4C-
-
-
-
3Gain-
PPIAL4D-
-
-
-
3Gain-
PPIAL4G-
-
-
-
3Gain-
PPIE-
-
-
-
3Gain-
PPIH-
-
-
-
3Gain-
PPIL4-
-
-
-
4Gain-
PPL-
-
-
-
1Loss-
PPM1E-
-
-
-
3Gain-
PPM1Jp.G164R
Missense
SNP
0.171
5Amp-
PPM1K-
-
-
-
1Loss-
PPM1L-
-
-
-
3Gain-
PPP1R14A-
-
-
-
3Gain-
PPP1R14C-
-
-
-
4Gain-
PPP1R2-
-
-
-
3Gain-
PPP1R3Ap.G464E
Missense
SNP
0.473
2--
PPP1R3D-
-
-
-
3Gain-
PPP1R8-
-
-
-
3Gain-
PPP2R3A-
-
-
-
3Gain-
PPP3CA-
-
-
-
1Loss-
PPP4C-
-
-
-
1Loss-
PPP4R1-
-
-
-
3Gain-
PPT1-
-
-
-
3Gain-
PQLC1-
-
-
-
1Loss-
PQLC2-
-
-
-
3Gain-
PQLC2L-
-
-
-
3Gain-
PRAMEF1-
-
-
-
3Gain-
PRAMEF11-
-
-
-
3Gain-
PRAMEF12-
-
-
-
3Gain-
PRAMEF14-
-
-
-
3Gain-
PRAMEF15-
-
-
-
3Gain-
PRAMEF18-
-
-
-
3Gain-
PRAMEF19-
-
-
-
3Gain-
PRAMEF2-
-
-
-
3Gain-
PRAMEF20-
-
-
-
3Gain-
PRAMEF25-
-
-
-
3Gain-
PRAMEF26-
-
-
-
3Gain-
PRAMEF27-
-
-
-
3Gain-
PRAMEF4-
-
-
-
3Gain-
PRAMEF5-
-
-
-
3Gain-
PRAMEF6-
-
-
-
3Gain-
PRAMEF9-
-
-
-
3Gain-
PRAP1-
-
-
-
1Loss-
PRC1-
-
-
-
3Gain-
PRCD-
-
-
-
3Gain-
PRDM16-
-
-
-
3Gain-
PRDM2-
-
-
-
3Gain-
PRDM5p.E229K
Missense
SNP
0.372
2--
PRDM8-
-
-
-
1Loss-
PRDX1-
-
-
-
3Gain-
PRELID3A-
-
-
-
3Gain-
PRELID3B-
-
-
-
3Gain-
PREX1-
-
-
-
3Gain-
PRKAA2-
-
-
-
3Gain-
PRKAB2-
-
-
-
3Gain-
PRKACB-
-
-
-
3Gain-
PRKAR1A-
-
-
-
3Gain-
PRKCA-
-
-
-
3Gain-
PRKCB-
-
-
-
1Loss-
PRKCI-
-
-
-
3Gain-
PRKCZ-
-
-
-
3Gain-
PRKD2p.R147W
Missense
SNP
0.175
2--
PRKG2p.G90R
Missense
SNP
0.824
1Loss-
PRLRp.P404S
Missense
SNP
0.676
2--
PRM1-
-
-
-
6Amp-
PRM2-
-
-
-
6Amp-
PRM3-
-
-
-
6Amp-
PRMT6-
-
-
-
5Amp-
PRODH2-
-
-
-
3Gain-
PROK1-
-
-
-
5Amp-
PROS1-
-
-
-
3Gain-
PROSER1-
-
-
-
1Loss-
PROSER3-
-
-
-
3Gain-
PROX1p.L9F
Missense
SNP
0.262
2--
PROZ-
-
-
-
1Loss-
PRPF3-
-
-
-
3Gain-
PRPF38A-
-
-
-
3Gain-
PRPF38B-
-
-
-
5Amp-
PRPF6-
-
-
-
3Gain-
PRPF8-
-
-
-
3Gain-
PRPSAP1-
-
-
-
3Gain-
PRPSAP2-
-
-
-
3Gain-
PRR11p.P104S
Missense
SNP
0.383
3Gain-
PRR14-
-
-
-
1Loss-
PRR18-
-
-
-
4Gain-
PRR19-
-
-
-
3Gain-
PRR23A-
-
-
-
3Gain-
PRR23B-
-
-
-
3Gain-
PRR23C-
-
-
-
3Gain-
PRR29-
-
-
-
3Gain-
PRR9-
-
-
-
3Gain-
PRRT2-
-
-
-
1Loss-
PRSS21-
-
-
-
1Loss-
PRSS22-
-
-
-
1Loss-
PRSS23p.G6E
Missense
SNP
0.659
2--
PRSS27-
-
-
-
1Loss-
PRSS33-
-
-
-
1Loss-
PRSS36-
-
-
-
1Loss-
PRSS41-
-
-
-
1Loss-
PRSS53-
-
-
-
1Loss-
PRSS8-
-
-
-
1Loss-
PRUNE1-
-
-
-
3Gain-
PRX-
-
-
-
3Gain-
PRXL2B-
-
-
-
3Gain-
PSD2p.R50Q
Missense
SNP
0.355
2--
PSENEN-
-
-
-
3Gain-
PSG1-
-
-
-
3Gain-
PSG11-
-
-
-
3Gain-
PSG2-
-
-
-
3Gain-
PSG3-
-
-
-
3Gain-
PSG6-
-
-
-
3Gain-
PSG7-
-
-
-
3Gain-
PSG8-
-
-
-
3Gain-
PSMA4-
-
-
-
1Loss-
PSMA5-
-
-
-
5Amp-
PSMA7-
-
-
-
3Gain-
PSMB2-
-
-
-
6Amp-
PSMB4-
-
-
-
3Gain-
PSMB6-
-
-
-
3Gain-
PSMC4-
-
-
-
3Gain-
PSMC5-
-
-
-
3Gain-
PSMD12-
-
-
-
3Gain-
PSMD2-
-
-
-
3Gain-
PSMD4-
-
-
-
3Gain-
PSMD8-
-
-
-
3Gain-
PSMG2-
-
-
-
3Gain-
PSPC1-
-
-
-
1Loss-
PSRC1-
-
-
-
5Amp-
PSTPIP1-
-
-
-
1Loss-
PSTPIP2-
-
-
-
1Loss-
PTAFR-
-
-
-
3Gain-
PTBP2-
-
-
-
6Amp-
PTBP3p.S292F
Missense
SNP
0.452
2--
PTCH2-
-
-
-
3Gain-
PTGER3-
-
-
-
3Gain-
PTGFR-
-
-
-
3Gain-
PTGFRN-
-
-
-
5Amp-
PTGIS-
-
-
-
3Gain-
PTK6-
-
-
-
3Gain-
PTP4A2-
-
-
-
3Gain-
PTPN1-
-
-
-
3Gain-
PTPN13-
-
-
-
1Loss-
PTPN2-
-
-
-
3Gain-
PTPN22-
-
-
-
5Amp-
PTPN9-
-
-
-
1Loss-
PTPRBp.P2210S
Missense
SNP
0.735
3Gain-
PTPRF-
-
-
-
3Gain-
PTPRM-
-
-
-
3Gain-
PTPRR-
-
-
-
3Gain-
PTPRU-
-
-
-
3Gain-
PTRH2-
-
-
-
3Gain-
PTX3-
-
-
-
3Gain-
PUM1-
-
-
-
3Gain-
PUSL1-
-
-
-
3Gain-
PXDNLp.D1280N
Missense
SNP
0.491
2--
PXYLP1-
-
-
-
3Gain-
PYCARD-
-
-
-
1Loss-
PYDC1-
-
-
-
1Loss-
PYDC2-
-
-
-
3Gain-
PYURF-
-
-
-
1Loss-
QARSp.R154W
Missense
SNP
0.487
2--
QKI-
-
-
-
3Gain-
QPRT-
-
-
-
1Loss-
QRICH2-
-
-
-
3Gain-
QSER1p.P1470S
Missense
SNP
0.477
2--
QTRT2-
-
-
-
3Gain-
RAB12-
-
-
-
3Gain-
RAB13-
-
-
-
3Gain-
RAB20-
-
-
-
1Loss-
RAB22A-
-
-
-
3Gain-
RAB26-
-
-
-
1Loss-
RAB27B-
-
-
-
1Loss-
RAB31-
-
-
-
3Gain-
RAB37-
-
-
-
3Gain-
RAB3B-
-
-
-
3Gain-
RAB3IP-
-
-
-
3Gain-
RAB42-
-
-
-
3Gain-
RAB43-
-
-
-
3Gain-
RAB4B-
-
-
-
3Gain-
RAB4B-EGLN2-
-
-
-
3Gain-
RAB6B-
-
-
-
3Gain-
RAB7A-
-
-
-
3Gain-
RABAC1-
-
-
-
3Gain-
RABEP1-
-
-
-
3Gain-
RABEP2-
-
-
-
1Loss-
RABGGTB-
-
-
-
3Gain-
RABL3-
-
-
-
3Gain-
RABL6p.T75K
Missense
SNP
0.897
2--
RAD51C-
-
-
-
3Gain-
RAD54Lp.P50L
Missense
SNP
0.807
3Gain-
RAE1-
-
-
-
3Gain-
RAET1E-
-
-
-
4Gain-
RAET1G-
-
-
-
4Gain-
RAET1L-
-
-
-
4Gain-
RAI1-
-
-
-
3Gain-
RALBP1-
-
-
-
3Gain-
RAMAC-
-
-
-
1Loss-
RAMACL-
-
-
-
4Gain-
RANGRF-
-
-
-
3Gain-
RAP1A-
-
-
-
5Amp-
RAP1GAP-
-
-
-
3Gain-
RAP1GAP2-
-
-
-
3Gain-
RAP1GDS1-
-
-
-
1Loss-
RAP2A-
-
-
-
1Loss-
RAP2B-
-
-
-
3Gain-
RARRES1-
-
-
-
3Gain-
RASA2-
-
-
-
3Gain-
RASA3-
-
-
-
1Loss-
RASD1-
-
-
-
3Gain-
RASGEF1B-
-
-
-
1Loss-
RASGRF1-
-
-
-
1Loss-
RASGRP4-
-
-
-
3Gain-
RASL11A-
-
-
-
1Loss-
RASSF6-
-
-
-
1Loss-
RASSF9-
-
-
-
3Gain-
RAVER2-
-
-
-
3Gain-
RAX-
-
-
-
1Loss-
RB1-
-
-
-
1Loss-
RBBP4-
-
-
-
3Gain-
RBBP6-
-
-
-
1Loss-
RBBP8-
-
-
-
3Gain-
RBBP8NL-
-
-
-
3Gain-
RBFA-
-
-
-
1Loss-
RBFOX1-
-
-
-
1Loss-
RBM15-
-
-
-
5Amp-
RBM26-
-
-
-
1Loss-
RBM38-
-
-
-
3Gain-
RBM42-
-
-
-
3Gain-
RBM8A-
-
-
-
3Gain-
RBMXL1-
-
-
-
3Gain-
RBP1-
-
-
-
3Gain-
RBP2-
-
-
-
3Gain-
RBP7-
-
-
-
3Gain-
RCAN3-
-
-
-
3Gain-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
RCC1-
-
-
-
3Gain-
RCC2-
-
-
-
3Gain-
RCCD1-
-
-
-
3Gain-
RCHY1-
-
-
-
1Loss-
RCN2-
-
-
-
1Loss-
RCVRN-
-
-
-
3Gain-
REC114-
-
-
-
1Loss-
RECQL5-
-
-
-
3Gain-
REG4-
-
-
-
5Amp-
RELCH-
-
-
-
1Loss-
RER1-
-
-
-
3Gain-
RERE-
-
-
-
3Gain-
RETNLB-
-
-
-
3Gain-
REV3L-
-
-
-
3Gain-
REXO5-
-
-
-
1Loss-
RFC3-
-
-
-
1Loss-
RFC4-
-
-
-
3Gain-
RFLNB-
-
-
-
3Gain-
RFPL4B-
-
-
-
3Gain-
RFTN1p.E93K
Missense
SNP
0.399
2--
RFX5-
-
-
-
3Gain-
RFXAP-
-
-
-
1Loss-
RGCC-
-
-
-
1Loss-
RGMA-
-
-
-
3Gain-
RGS19-
-
-
-
3Gain-
RGS7p.R44C
Missense
SNP
0.550
2--
RGS9-
-
-
-
3Gain-
RGS9BP-
-
-
-
3Gain-
RHBDF2-
-
-
-
3Gain-
RHBDL2-
-
-
-
3Gain-
RHCE-
-
-
-
3Gain-
RHD-
-
-
-
3Gain-
RHO-
-
-
-
3Gain-
RHOBTB1p.D429N
Missense
SNP
0.283
2--
RHOC-
-
-
-
5Amp-
RHPN2-
-
-
-
3Gain-
RIIAD1-
-
-
-
3Gain-
RILP-
-
-
-
3Gain-
RIMKLA-
-
-
-
3Gain-
RIMS1-
-
-
-
3Gain-
RIMS3-
-
-
-
3Gain-
RINL-
-
-
-
3Gain-
RIOK3-
-
-
-
3Gain-
RIOX2-
-
-
-
3Gain-
RIPOR3-
-
-
-
3Gain-
RIT2-
-
-
-
1Loss-
RLF-
-
-
-
3Gain-
RMC1-
-
-
-
3Gain-
RMDN2p.R130C
Missense
SNP
0.463
2--
RMI2-
-
-
-
6Amp-
RMND1-
-
-
-
4Gain-
RNASEH2B-
-
-
-
1Loss-
RNASEK-
-
-
-
3Gain-
RNASEK-C17orf49-
-
-
-
3Gain-
RNASET2-
-
-
-
4Gain-
RNF11-
-
-
-
3Gain-
RNF112-
-
-
-
3Gain-
RNF113B-
-
-
-
1Loss-
RNF114-
-
-
-
3Gain-
RNF115-
-
-
-
3Gain-
RNF13-
-
-
-
3Gain-
RNF151-
-
-
-
1Loss-
RNF152-
-
-
-
1Loss-
RNF157-
-
-
-
3Gain-
RNF165p.R254W
Missense
SNP
0.370
1Loss-
RNF167-
-
-
-
3Gain-
RNF168-
-
-
-
3Gain-
RNF17-
-
-
-
1Loss-
RNF186-
-
-
-
3Gain-
RNF19B-
-
-
-
3Gain-
RNF207-
-
-
-
3Gain-
RNF217p.P480S
Missense
SNP
0.255
2--
RNF219-
-
-
-
1Loss-
RNF220-
-
-
-
3Gain-
RNF222-
-
-
-
3Gain-
RNF223-
-
-
-
3Gain-
RNF227-
-
-
-
3Gain-
RNF40-
-
-
-
1Loss-
RNF43-
-
-
-
3Gain-
RNF6-
-
-
-
1Loss-
RNF7-
-
-
-
3Gain-
RNFT1-
-
-
-
3Gain-
RNMT-
-
-
-
3Gain-
RNPC3-
-
-
-
5Amp-
RNPS1-
-
-
-
1Loss-
RNU5A-1-
-
-
-
NDNDRNU5A-1--SNORA73A
ROBO4p.G686E
Missense
SNP
0.268
2--
ROCK1-
-
-
-
3Gain-
ROGDI-
-
-
-
1Loss-
ROPN1-
-
-
-
3Gain-
ROPN1B-
-
-
-
3Gain-
ROR1-
-
-
-
3Gain-
RORC-
-
-
-
3Gain-
RP11-407N17.3p.S834W
Missense
SNP
0.411
NDND-
RPA1-
-
-
-
3Gain-
RPA2-
-
-
-
3Gain-
RPAIN-
-
-
-
3Gain-
RPAP2-
-
-
-
6Amp-
RPE65-
-
-
-
3Gain-
RPF1-
-
-
-
3Gain-
RPF2-
-
-
-
3Gain-
RPH3AL-
-
-
-
3Gain-
RPL11-
-
-
-
3Gain-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL21-
-
-
-
1Loss-
RPL22-
-
-
-
3Gain-
RPL22L1-
-
-
-
3Gain-
RPL24-
-
-
-
3Gain-
RPL26-
-
-
-
3Gain-
RPL35A-
-
-
-
3Gain-
RPL38-
-
-
-
3Gain-
RPL39L-
-
-
-
3Gain-
RPL3L-
-
-
-
1Loss-
RPL5-
-
-
-
6Amp-
RPN1-
-
-
-
3Gain-
RPP25-
-
-
-
1Loss-
RPRD1A-
-
-
-
1Loss-
RPRD2-
-
-
-
3Gain-
RPS15A-
-
-
-
6Amp-
RPS16-
-
-
-
3Gain-
RPS17-
-
-
-
1Loss-
RPS19-
-
-
-
3Gain-
RPS2-
-
-
-
1Loss-
RPS21-
-
-
-
3Gain-
RPS27-
-
-
-
3Gain-
RPS6KA1-
-
-
-
3Gain-
RPS6KA2-
-
-
-
4Gain-
RPS6KB1-
-
-
-
3Gain-
RPS8-
-
-
-
3Gain-
RPTNp.S413F
Missense
SNP
0.700
3Gain-
RRAGC-
-
-
-
3Gain-
RRN3-
-
-
-
6Amp-
RSBN1-
-
-
-
5Amp-
RSC1A1-
-
-
-
3Gain-
RSL1D1p.R147C
Missense
SNP
0.104
6Amp-
RSPO1-
-
-
-
3Gain-
RSRC1-
-
-
-
3Gain-
RSRP1-
-
-
-
3Gain-
RTCA-
-
-
-
6Amp-
RTEL1-
-
-
-
3Gain-
RTEL1-TNFRSF6B-
-
-
-
3Gain-
RTF2-
-
-
-
3Gain-
RTN4RL1-
-
-
-
3Gain-
RTP1-
-
-
-
3Gain-
RTP2-
-
-
-
3Gain-
RTP4-
-
-
-
3Gain-
RTTN-
-
-
-
1Loss-
RUBCN-
-
-
-
3Gain-
RUBCNL-
-
-
-
1Loss-
RUNX3-
-
-
-
3Gain-
RUVBL1-
-
-
-
3Gain-
RWDD3-
-
-
-
6Amp-
RXFP2p.E77K
Missense
SNP
0.840
1Loss-
RYK-
-
-
-
3Gain-
RYR1-
-
-
-
3Gain-
RYR2p.G41E
p.S3303F
Missense
Missense
SNP
SNP
0.291
0.543
2--
RYR3p.T442I
Missense
SNP
0.169
2--
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-
S100A7L2p.G110E
Missense
SNP
0.540
3Gain-
S100A8-
-
-
-
3Gain-
S100A9-
-
-
-
3Gain-
S100PBP-
-
-
-
3Gain-
S1PR1-
-
-
-
6Amp-
SACS-
-
-
-
1Loss-
SALL3-
-
-
-
1Loss-
SALL4-
-
-
-
3Gain-
SAMD10-
-
-
-
3Gain-
SAMD11-
-
-
-
3Gain-
SAMD13-
-
-
-
3Gain-
SAMD4B-
-
-
-
3Gain-
SAMD5-
-
-
-
5Amp-
SAMD7-
-
-
-
3Gain-
SAMD9-
-
-
-
3Gain-
SAMD9L-
-
-
-
3Gain-
SAP18-
-
-
-
1Loss-
SAP30BP-
-
-
-
3Gain-
SARS-
-
-
-
5Amp-
SARS2-
-
-
-
3Gain-
SASH1-
-
-
-
5Amp-
SASS6-
-
-
-
6Amp-
SAT2-
-
-
-
3Gain-
SAXO2-
-
-
-
1Loss-
SBK1-
-
-
-
1Loss-
SBSN-
-
-
-
3Gain-
SCAMP2-
-
-
-
1Loss-
SCAMP5-
-
-
-
1Loss-
SCAPER-
-
-
-
1Loss-
SCARB2-
-
-
-
1Loss-
SCARF1-
-
-
-
3Gain-
SCART1-
-
-
-
1Loss-
SCD5-
-
-
-
1Loss-
SCEL-
-
-
-
1Loss-
SCGB1C2-
-
-
-
3Gain-
SCGB2B2-
-
-
-
3Gain-
SCGNp.D173N
Missense
SNP
0.507
2--
SCHIP1-
-
-
-
3Gain-
SCIMP-
-
-
-
3Gain-
SCMH1-
-
-
-
3Gain-
SCN1B-
-
-
-
3Gain-
SCN4A-
-
-
-
3Gain-
SCN8Ap.E946K
Missense
SNP
0.322
2--
SCN9Ap.R1608Q
Missense
SNP
0.523
2--
SCNM1-
-
-
-
3Gain-
SCNN1B-
-
-
-
1Loss-
SCNN1D-
-
-
-
3Gain-
SCNN1G-
-
-
-
1Loss-
SCO1-
-
-
-
3Gain-
SCP2-
-
-
-
3Gain-
SCPEP1-
-
-
-
3Gain-
SDAD1-
-
-
-
1Loss-
SDC3-
-
-
-
3Gain-
SDF4-
-
-
-
3Gain-
SDHAF1-
-
-
-
3Gain-
SDHB-
-
-
-
3Gain-
SDK2-
-
-
-
3Gain-
SDR42E2-
-
-
-
1Loss-
SEC11A-
-
-
-
1Loss-
SEC11C-
-
-
-
1Loss-
SEC14L1-
-
-
-
3Gain-
SEC14L5-
-
-
-
1Loss-
SEC22A-
-
-
-
3Gain-
SEC22B-
-
-
-
5Amp-
SEC31A-
-
-
-
1Loss-
SEC61A1-
-
-
-
3Gain-
SEC62-
-
-
-
3Gain-
SEH1L-
-
-
-
3Gain-
SELENBP1-
-
-
-
3Gain-
SELENOF-
-
-
-
3Gain-
SELENON-
-
-
-
3Gain-
SELENOS-
-
-
-
3Gain-
SELENOT-
-
-
-
3Gain-
SELENOV-
-
-
-
3Gain-
SEMA5B-
-
-
-
3Gain-
SEMA6C-
-
-
-
3Gain-
SEMA7A-
-
-
-
1Loss-
SENP2-
-
-
-
3Gain-
SENP3-
-
-
-
3Gain-
SENP3-EIF4A1-
-
-
-
3Gain-
SENP5-
-
-
-
3Gain-
SENP6-
-
-
-
5Amp-
SENP7-
-
-
-
3Gain-
SENP8-
-
-
-
1Loss-
SEPHS2-
-
-
-
1Loss-
SEPT1-
-
-
-
1Loss-
SEPT11-
-
-
-
1Loss-
SEPT12-
-
-
-
1Loss-
SEPT4-
-
-
-
3Gain-
SEPT9-
-
-
-
3Gain-
SERBP1-
-
-
-
3Gain-
SERINC2-
-
-
-
3Gain-
SERP1-
-
-
-
3Gain-
SERP2-
-
-
-
1Loss-
SERPINA11p.S379Y
Missense
SNP
0.409
2--
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINE3-
-
-
-
1Loss-
SERPINF1-
-
-
-
3Gain-
SERPINF2-
-
-
-
3Gain-
SERPINI1-
-
-
-
3Gain-
SERPINI2-
-
-
-
3Gain-
SERTAD1-
-
-
-
3Gain-
SERTAD3-
-
-
-
3Gain-
SERTM1-
-
-
-
1Loss-
SESN2-
-
-
-
3Gain-
SETBP1-
-
-
-
1Loss-
SETD1A-
-
-
-
1Loss-
SETDB1-
-
-
-
3Gain-
SETDB2-
-
-
-
1Loss-
SEZ6L2-
-
-
-
1Loss-
SF3A3-
-
-
-
3Gain-
SF3B4-
-
-
-
3Gain-
SF3B5-
-
-
-
5Amp-
SFN-
-
-
-
3Gain-
SFPQ-
-
-
-
6Amp-
SFT2D1-
-
-
-
4Gain-
SGCG-
-
-
-
1Loss-
SGF29-
-
-
-
1Loss-
SGIP1-
-
-
-
3Gain-
SGK2p.M61I
Missense
SNP
0.403
2--
SGSM2-
-
-
-
3Gain-
SH2B1-
-
-
-
1Loss-
SH2D5-
-
-
-
3Gain-
SH2D7-
-
-
-
1Loss-
SH3BGRL2-
-
-
-
3Gain-
SH3BGRL3-
-
-
-
3Gain-
SH3D21-
-
-
-
6Amp-
SH3GL3-
-
-
-
1Loss-
SH3GLB1-
-
-
-
3Gain-
SH3TC1-
-
-
-
1Loss-
SHBG-
-
-
-
3Gain-
SHISA2-
-
-
-
1Loss-
SHISA6-
-
-
-
3Gain-
SHISA9-
-
-
-
6Amp-
SHISAL2A-
-
-
-
3Gain-
SHKBP1-
-
-
-
3Gain-
SHMT1-
-
-
-
3Gain-
SHOX2p.R215*
Nonsense
SNP
0.214
3Gain-
SHPK-
-
-
-
3Gain-
SHROOM3-
-
-
-
1Loss-
SI-
-
-
-
3Gain-
SIAH2-
-
-
-
3Gain-
SIAH3-
-
-
-
1Loss-
SIDT1-
-
-
-
3Gain-
SIGLEC15-
-
-
-
1Loss-
SIKE1-
-
-
-
5Amp-
SIN3A-
-
-
-
1Loss-
SIPA1L3-
-
-
-
3Gain-
SIRPGp.P11S
Missense
SNP
0.497
2--
SIRT2-
-
-
-
3Gain-
SKA1-
-
-
-
1Loss-
SKA2-
-
-
-
3Gain-
SKA3-
-
-
-
1Loss-
SKI-
-
-
-
3Gain-
SKIL-
-
-
-
3Gain-
SKOR2-
-
-
-
1Loss-
SLAIN1-
-
-
-
1Loss-
SLC10A2-
-
-
-
1Loss-
SLC10A6-
-
-
-
1Loss-
SLC10A7p.S261L
Missense
SNP
0.267
2--
SLC12A5-
-
-
-
3Gain-
SLC12A8-
-
-
-
3Gain-
SLC13A3-
-
-
-
3Gain-
SLC13A5-
-
-
-
3Gain-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC15A1-
-
-
-
1Loss-
SLC15A2-
-
-
-
3Gain-
SLC16A1-
-
-
-
5Amp-
SLC16A10-
-
-
-
3Gain-
SLC16A11-
-
-
-
3Gain-
SLC16A13-
-
-
-
3Gain-
SLC16A4-
-
-
-
5Amp-
SLC16A5-
-
-
-
3Gain-
SLC16A6-
-
-
-
3Gain-
SLC16A9p.G28E
Missense
SNP
0.636
2--
SLC17A1p.L347F
Missense
SNP
0.439
2--
SLC17A5-
-
-
-
5Amp-
SLC17A9-
-
-
-
3Gain-
SLC1A7-
-
-
-
3Gain-
SLC22A15-
-
-
-
5Amp-
SLC22A9p.S167L
Missense
SNP
0.297
2--
SLC24A2p.G437E
Missense
SNP
0.968
2--
SLC25A11-
-
-
-
3Gain-
SLC25A15-
-
-
-
1Loss-
SLC25A19-
-
-
-
3Gain-
SLC25A24-
-
-
-
5Amp-
SLC25A3-
-
-
-
3Gain-
SLC25A30-
-
-
-
1Loss-
SLC25A33-
-
-
-
3Gain-
SLC25A34-
-
-
-
3Gain-
SLC25A35-
-
-
-
3Gain-
SLC25A36-
-
-
-
3Gain-
SLC27A3-
-
-
-
3Gain-
SLC28A1-
-
-
-
1Loss-
SLC2A1-
-
-
-
3Gain-
SLC2A10-
-
-
-
3Gain-
SLC2A2-
-
-
-
3Gain-
SLC2A4-
-
-
-
3Gain-
SLC2A4RG-
-
-
-
3Gain-
SLC2A5-
-
-
-
3Gain-
SLC2A7-
-
-
-
3Gain-
SLC2A9-
-
-
-
1Loss-
SLC30A2-
-
-
-
3Gain-
SLC30A7-
-
-
-
6Amp-
SLC33A1-
-
-
-
3Gain-
SLC35A3-
-
-
-
6Amp-
SLC35A5-
-
-
-
3Gain-
SLC35C2p.R261G
Missense
SNP
0.577
3Gain-
SLC35D1-
-
-
-
3Gain-
SLC35E2B-
-
-
-
3Gain-
SLC35G2-
-
-
-
3Gain-
SLC35G4-
-
-
-
3Gain-
SLC35G6-
-
-
-
3Gain-
SLC39A1-
-
-
-
3Gain-
SLC39A11-
-
-
-
3Gain-
SLC39A6-
-
-
-
1Loss-
SLC41A3-
-
-
-
3Gain-
SLC43A2-
-
-
-
3Gain-
SLC44A3-
-
-
-
6Amp-
SLC44A5-
-
-
-
3Gain-
SLC45A1-
-
-
-
3Gain-
SLC46A3-
-
-
-
1Loss-
SLC47A1-
-
-
-
3Gain-
SLC47A2-
-
-
-
3Gain-
SLC51A-
-
-
-
3Gain-
SLC52A1-
-
-
-
3Gain-
SLC5A10-
-
-
-
3Gain-
SLC5A11-
-
-
-
1Loss-
SLC5A2-
-
-
-
1Loss-
SLC5A9-
-
-
-
3Gain-
SLC6A12p.W284*
Nonsense
SNP
0.569
2--
SLC6A17-
-
-
-
5Amp-
SLC6A9-
-
-
-
3Gain-
SLC7A1-
-
-
-
1Loss-
SLC7A10-
-
-
-
3Gain-
SLC7A14-
-
-
-
3Gain-
SLC7A9-
-
-
-
3Gain-
SLC9A1-
-
-
-
3Gain-
SLC9A3R1-
-
-
-
3Gain-
SLC9A3R2-
-
-
-
1Loss-
SLC9A8-
-
-
-
3Gain-
SLC9A9-
-
-
-
3Gain-
SLC9C1-
-
-
-
3Gain-
SLCO1B1p.M48I
Missense
SNP
0.239
2--
SLCO1B3p.G315E
Missense
SNP
0.564
2--
SLCO2A1-
-
-
-
3Gain-
SLCO3A1-
-
-
-
3Gain-
SLCO4A1-
-
-
-
3Gain-
SLFNL1-
-
-
-
3Gain-
SLITRK1-
-
-
-
1Loss-
SLITRK3-
-
-
-
3Gain-
SLITRK5-
-
-
-
1Loss-
SLITRK6-
-
-
-
1Loss-
SLX1A-
-
-
-
1Loss-
SLX1B-
-
-
-
1Loss-
SLX4-
-
-
-
1Loss-
SMAD2-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMAD9-
-
-
-
1Loss-
SMAP1-
-
-
-
3Gain-
SMAP2-
-
-
-
3Gain-
SMARCA5-
-
-
-
3Gain-
SMARCAD1-
-
-
-
1Loss-
SMARCD2-
-
-
-
3Gain-
SMC4-
-
-
-
3Gain-
SMCO1-
-
-
-
3Gain-
SMCP-
-
-
-
3Gain-
SMCR8-
-
-
-
3Gain-
SMG1-
-
-
-
6Amp-
SMG6-
-
-
-
3Gain-
SMG8-
-
-
-
3Gain-
SMIM1-
-
-
-
3Gain-
SMIM12-
-
-
-
6Amp-
SMIM2-
-
-
-
1Loss-
SMIM21-
-
-
-
1Loss-
SMIM22-
-
-
-
1Loss-
SMIM5-
-
-
-
3Gain-
SMIM6-
-
-
-
3Gain-
SMLR1-
-
-
-
3Gain-
SMPDL3B-
-
-
-
3Gain-
SMTNL2-
-
-
-
3Gain-
SMURF2-
-
-
-
3Gain-
SMYD4-
-
-
-
3Gain-
SNAI1-
-
-
-
3Gain-
SNAPIN-
-
-
-
3Gain-
SNCA-
-
-
-
1Loss-
SNIP1-
-
-
-
3Gain-
SNN-
-
-
-
6Amp-
SNORA73A-
-
-
-
NDNDRNU5A-1--SNORA73A
SNRNP40-
-
-
-
3Gain-
SNRPA-
-
-
-
3Gain-
SNRPA1-
-
-
-
3Gain-
SNRPD1-
-
-
-
3Gain-
SNRPF-
-
-
-
3Gain-
SNUPN-
-
-
-
1Loss-
SNX27-
-
-
-
3Gain-
SNX29-
-
-
-
6Amp-
SNX33-
-
-
-
1Loss-
SNX4-
-
-
-
3Gain-
SNX7-
-
-
-
6Amp-
SOCS1-
-
-
-
6Amp-
SOCS2-
-
-
-
3Gain-
SOCS6-
-
-
-
1Loss-
SOHLH2-
-
-
-
1Loss-
SORT1-
-
-
-
5Amp-
SOWAHB-
-
-
-
1Loss-
SOX1-
-
-
-
1Loss-
SOX11p.K122N
Missense
SNP
0.476
2--
SOX14-
-
-
-
3Gain-
SOX15-
-
-
-
3Gain-
SOX18-
-
-
-
3Gain-
SOX2-
-
-
-
3Gain-
SOX21-
-
-
-
1Loss-
SOX9-
-
-
-
3Gain-
SP100p.L815*
Frame_Shift_Del
DEL
0.529
2--
SPACA7-
-
-
-
1Loss-
SPAG16p.P488S
Missense
SNP
0.489
2--
SPAG17-
-
-
-
5Amp-
SPAG7-
-
-
-
3Gain-
SPAM1p.H399Y
Missense
SNP
0.413
2--
SPARCL1-
-
-
-
1Loss-
SPART-
-
-
-
1Loss-
SPATA1-
-
-
-
3Gain-
SPATA13-
-
-
-
1Loss-
SPATA16-
-
-
-
3Gain-
SPATA18p.I481N
Missense
SNP
0.676
2--
SPATA2-
-
-
-
3Gain-
SPATA21-
-
-
-
3Gain-
SPATA22-
-
-
-
3Gain-
SPATA6-
-
-
-
3Gain-
SPATA8p.S32L
Missense
SNP
0.667
3Gain-
SPDYE4-
-
-
-
3Gain-
SPECC1-
-
-
-
3Gain-
SPEM1-
-
-
-
3Gain-
SPEM2-
-
-
-
3Gain-
SPENp.P3253S
Missense
SNP
0.803
3Gain-
SPERT-
-
-
-
1Loss-
SPHK1-
-
-
-
3Gain-
SPICE1-
-
-
-
3Gain-
SPINT2-
-
-
-
3Gain-
SPIRE1-
-
-
-
3Gain-
SPN-
-
-
-
1Loss-
SPNS1-
-
-
-
1Loss-
SPNS2-
-
-
-
3Gain-
SPNS3-
-
-
-
3Gain-
SPO11-
-
-
-
3Gain-
SPOCD1-
-
-
-
3Gain-
SPP1-
-
-
-
1Loss-
SPRED3-
-
-
-
3Gain-
SPRN-
-
-
-
1Loss-
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRY2-
-
-
-
1Loss-
SPRYD7-
-
-
-
1Loss-
SPSB1-
-
-
-
3Gain-
SPSB4-
-
-
-
3Gain-
SPTA1p.E529K
Missense
SNP
0.529
2--
SPTBN4-
-
-
-
3Gain-
SPTSSB-
-
-
-
3Gain-
SRARP-
-
-
-
3Gain-
SRCAP-
-
-
-
1Loss-
SREBF1p.A249V
Missense
SNP
0.568
3Gain-
SRGAP2B-
-
-
-
3Gain-
SRGAP2C-
-
-
-
3Gain-
SRL-
-
-
-
1Loss-
SRM-
-
-
-
3Gain-
SRMS-
-
-
-
3Gain-
SRP68-
-
-
-
3Gain-
SRPRB-
-
-
-
3Gain-
SRR-
-
-
-
3Gain-
SRRM1-
-
-
-
3Gain-
SRRM2-
-
-
-
1Loss-
SRRM3p.R250L
Missense
SNP
0.442
2--
SRSF1-
-
-
-
3Gain-
SRSF10-
-
-
-
3Gain-
SRSF11-
-
-
-
3Gain-
SRSF2-
-
-
-
3Gain-
SRSF4-
-
-
-
3Gain-
SS18L1-
-
-
-
3Gain-
SSBP3-
-
-
-
3Gain-
SSH3p.E143K
Missense
SNP
0.246
2--
SSPOp.R247G
Missense
SNP
0.450
2--
SSR3-
-
-
-
3Gain-
SST-
-
-
-
3Gain-
SSTR2-
-
-
-
3Gain-
SSU72-
-
-
-
3Gain-
SSX2IP-
-
-
-
3Gain-
ST20-
-
-
-
1Loss-
ST20-MTHFS-
-
-
-
1Loss-
ST3GAL3-
-
-
-
3Gain-
ST3GAL6-
-
-
-
3Gain-
ST6GAL1-
-
-
-
3Gain-
ST6GAL2p.S152F
Missense
SNP
0.478
2--
ST6GALNAC1-
-
-
-
3Gain-
ST6GALNAC2-
-
-
-
3Gain-
ST6GALNAC3-
-
-
-
3Gain-
ST6GALNAC5-
-
-
-
3Gain-
ST7L-
-
-
-
5Amp-
ST8SIA2-
-
-
-
3Gain-
ST8SIA3-
-
-
-
1Loss-
ST8SIA4p.R87C
Missense
SNP
0.256
2--
ST8SIA5-
-
-
-
1Loss-
STAG1-
-
-
-
3Gain-
STARD13-
-
-
-
1Loss-
STARD5-
-
-
-
1Loss-
STARD6-
-
-
-
1Loss-
STAU1-
-
-
-
3Gain-
STBD1-
-
-
-
1Loss-
STEAP3p.P440L
Missense
SNP
0.320
2--
STIL-
-
-
-
3Gain-
STK24-
-
-
-
1Loss-
STK40-
-
-
-
6Amp-
STMN1-
-
-
-
3Gain-
STMN3-
-
-
-
3Gain-
STOML1-
-
-
-
1Loss-
STOML3-
-
-
-
1Loss-
STPG1-
-
-
-
3Gain-
STPG2-
-
-
-
1Loss-
STRA6-
-
-
-
1Loss-
STRADA-
-
-
-
3Gain-
STRIP1-
-
-
-
5Amp-
STX11-
-
-
-
5Amp-
STX12-
-
-
-
3Gain-
STX16-
-
-
-
3Gain-
STX16-NPEPL1-
-
-
-
3Gain-
STX19-
-
-
-
3Gain-
STX1B-
-
-
-
1Loss-
STX4-
-
-
-
1Loss-
STX8-
-
-
-
3Gain-
STXBP3-
-
-
-
5Amp-
STXBP4-
-
-
-
3Gain-
STXBP5-
-
-
-
5Amp-
STXBP5L-
-
-
-
3Gain-
SUCLA2-
-
-
-
1Loss-
SUCNR1-
-
-
-
3Gain-
SUGT1-
-
-
-
1Loss-
SULF2-
-
-
-
3Gain-
SULT1A1-
-
-
-
1Loss-
SULT1A2-
-
-
-
1Loss-
SULT1A3-
-
-
-
1Loss-
SULT1A4-
-
-
-
1Loss-
SUMO2-
-
-
-
3Gain-
SUMO4-
-
-
-
4Gain-
SUPT20H-
-
-
-
1Loss-
SUPT4H1-
-
-
-
3Gain-
SUPT5H-
-
-
-
3Gain-
SV2A-
-
-
-
3Gain-
SV2B-
-
-
-
3Gain-
SV2Cp.G449E
Missense
SNP
0.637
2--
SVBP-
-
-
-
3Gain-
SYCE1-
-
-
-
1Loss-
SYCN-
-
-
-
3Gain-
SYCP1p.E775K
Missense
SNP
0.245
5Amp-
SYCP2-
-
-
-
3Gain-
SYDE2p.N513K
Missense
SNP
0.097
3Gain-
SYF2-
-
-
-
3Gain-
SYNC-
-
-
-
3Gain-
SYNE1-
-
-
-
4Gain-
SYNE2p.S6816F
Missense
SNP
0.571
2--
SYNE4-
-
-
-
3Gain-
SYNGR2-
-
-
-
3Gain-
SYNGR3-
-
-
-
1Loss-
SYNM-
-
-
-
3Gain-
SYPL2-
-
-
-
5Amp-
SYT3p.R558C
Missense
SNP
0.250
2--
SYT4-
-
-
-
1Loss-
SYT6-
-
-
-
5Amp-
SYTL1-
-
-
-
3Gain-
SZRD1-
-
-
-
3Gain-
SZT2-
-
-
-
3Gain-
TAB2-
-
-
-
5Amp-
TACO1-
-
-
-
3Gain-
TACSTD2-
-
-
-
3Gain-
TAF12-
-
-
-
3Gain-
TAF13-
-
-
-
5Amp-
TAF1Lp.L41F
Missense
SNP
0.971
2--
TAF4p.L717F
Missense
SNP
0.333
3Gain-
TAGLN3-
-
-
-
3Gain-
TAL1-
-
-
-
3Gain-
TANC2-
-
-
-
3Gain-
TAOK2-
-
-
-
1Loss-
TARDBP-
-
-
-
3Gain-
TARS2-
-
-
-
3Gain-
TAS1R1-
-
-
-
3Gain-
TAS1R2-
-
-
-
3Gain-
TAS1R3-
-
-
-
3Gain-
TAS2R3p.A228V
Missense
SNP
0.508
2--
TAS2R38p.S329F
Missense
SNP
0.408
2--
TAX1BP3-
-
-
-
3Gain-
TBC1D10B-
-
-
-
1Loss-
TBC1D21-
-
-
-
1Loss-
TBC1D23-
-
-
-
3Gain-
TBC1D24-
-
-
-
1Loss-
TBC1D26-
-
-
-
3Gain-
TBC1D28-
-
-
-
3Gain-
TBC1D2B-
-
-
-
1Loss-
TBC1D4-
-
-
-
1Loss-
TBCB-
-
-
-
3Gain-
TBCCD1-
-
-
-
3Gain-
TBCKp.S729L
Missense
SNP
0.288
2--
TBL1XR1-
-
-
-
3Gain-
TBL3-
-
-
-
1Loss-
TBX15-
-
-
-
5Amp-
TBX2-
-
-
-
3Gain-
TBX20p.H114Q
Missense
SNP
0.455
2--
TBX4-
-
-
-
3Gain-
TBX5p.G365S
Missense
SNP
0.285
2--
TBX6-
-
-
-
1Loss-
TBXT-
-
-
-
4Gain-
TCEA2-
-
-
-
3Gain-
TCEA3-
-
-
-
3Gain-
TCEANC2-
-
-
-
3Gain-
TCERG1Lp.M371I
Missense
SNP
0.323
2--
TCF4-
-
-
-
1Loss-
TCFL5-
-
-
-
3Gain-
TCHH-
-
-
-
3Gain-
TCHHL1p.E428K
Missense
SNP
0.650
3Gain-
TCP10L2-
-
-
-
4Gain-
TCTE1p.P46S
Missense
SNP
0.523
2--
TCTEX1D1-
-
-
-
3Gain-
TCTEX1D2-
-
-
-
3Gain-
TCTEX1D4-
-
-
-
3Gain-
TDRD12-
-
-
-
3Gain-
TDRD3-
-
-
-
1Loss-
TDRD5p.E403K
Missense
SNP
0.572
2--
TDRKH-
-
-
-
3Gain-
TEDC2-
-
-
-
1Loss-
TEKT1-
-
-
-
3Gain-
TEKT2-
-
-
-
6Amp-
TEKT3-
-
-
-
3Gain-
TEKT5-
-
-
-
6Amp-
TEN1-
-
-
-
3Gain-
TEN1-CDK3-
-
-
-
3Gain-
TENT5A-
-
-
-
3Gain-
TENT5B-
-
-
-
3Gain-
TENT5C-
-
-
-
5Amp-
TESK2-
-
-
-
3Gain-
TEX14-
-
-
-
3Gain-
TEX2-
-
-
-
3Gain-
TEX26-
-
-
-
1Loss-
TEX29-
-
-
-
1Loss-
TEX30-
-
-
-
1Loss-
TEX38-
-
-
-
3Gain-
TEX46-
-
-
-
3Gain-
TF-
-
-
-
3Gain-
TFAP2C-
-
-
-
3Gain-
TFAP2E-
-
-
-
6Amp-
TFAP4-
-
-
-
1Loss-
TFCP2L1p.E286K
Missense
SNP
0.423
2--
TFDP1-
-
-
-
1Loss-
TFDP2-
-
-
-
3Gain-
TFF3p.P9L
Missense
SNP
0.481
2--
TFGp.L105F
Missense
SNP
0.296
3Gain-
TFRC-
-
-
-
3Gain-
TGDS-
-
-
-
1Loss-
TGFB1-
-
-
-
3Gain-
TGFB1I1-
-
-
-
1Loss-
TGFBR3-
-
-
-
6Amp-
TGM5p.S123F
Missense
SNP
0.270
2--
THAP10-
-
-
-
1Loss-
THAP3-
-
-
-
3Gain-
THAP6-
-
-
-
1Loss-
THAP8-
-
-
-
3Gain-
THAP9-
-
-
-
1Loss-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEMIS2-
-
-
-
3Gain-
THOC6-
-
-
-
1Loss-
THPO-
-
-
-
3Gain-
THRAP3-
-
-
-
6Amp-
THSD1-
-
-
-
1Loss-
THSD4-
-
-
-
1Loss-
THUMPD1-
-
-
-
1Loss-
TIAM2p.G142E
Missense
SNP
0.389
2--
TIE1p.D758N
Missense
SNP
0.299
3Gain-
TIGD2-
-
-
-
1Loss-
TIGD7-
-
-
-
1Loss-
TIGIT-
-
-
-
3Gain-
TIMD4p.G221E
Missense
SNP
0.197
2--
TIMM21-
-
-
-
1Loss-
TIMM22-
-
-
-
3Gain-
TIMM50-
-
-
-
3Gain-
TIMMDC1-
-
-
-
3Gain-
TINAGL1-
-
-
-
3Gain-
TIPARP-
-
-
-
3Gain-
TK1-
-
-
-
3Gain-
TLCD2-
-
-
-
3Gain-
TLK2-
-
-
-
3Gain-
TLNRD1-
-
-
-
1Loss-
TM2D1-
-
-
-
3Gain-
TM4SF1-
-
-
-
3Gain-
TM4SF18-
-
-
-
3Gain-
TM4SF19-
-
-
-
3Gain-
TM4SF19-TCTEX1D2-
-
-
-
3Gain-
TM4SF4-
-
-
-
3Gain-
TM4SF5-
-
-
-
3Gain-
TM6SF1-
-
-
-
1Loss-
TM9SF2-
-
-
-
1Loss-
TMC3-
-
-
-
1Loss-
TMC5p.P226S
Missense
SNP
0.394
1Loss-
TMC6-
-
-
-
3Gain-
TMC8-
-
-
-
3Gain-
TMCC1-
-
-
-
3Gain-
TMCC3-
-
-
-
3Gain-
TMCO2-
-
-
-
3Gain-
TMCO3-
-
-
-
1Loss-
TMCO4-
-
-
-
3Gain-
TMED3-
-
-
-
1Loss-
TMED5-
-
-
-
6Amp-
TMEM100-
-
-
-
3Gain-
TMEM102-
-
-
-
3Gain-
TMEM104-
-
-
-
3Gain-
TMEM107-
-
-
-
3Gain-
TMEM108-
-
-
-
3Gain-
TMEM11-
-
-
-
3Gain-
TMEM125-
-
-
-
3Gain-
TMEM145-
-
-
-
3Gain-
TMEM147-
-
-
-
3Gain-
TMEM150C-
-
-
-
1Loss-
TMEM159-
-
-
-
1Loss-
TMEM167B-
-
-
-
5Amp-
TMEM189-
-
-
-
3Gain-
TMEM189-UBE2V1-
-
-
-
3Gain-
TMEM198p.E270K
Missense
SNP
0.423
2--
TMEM200A-
-
-
-
3Gain-
TMEM200B-
-
-
-
3Gain-
TMEM200C-
-
-
-
3Gain-
TMEM201-
-
-
-
3Gain-
TMEM202-
-
-
-
1Loss-
TMEM207-
-
-
-
3Gain-
TMEM212-
-
-
-
3Gain-
TMEM219-
-
-
-
1Loss-
TMEM220-
-
-
-
3Gain-
TMEM222-
-
-
-
3Gain-
TMEM234-
-
-
-
3Gain-
TMEM235-
-
-
-
3Gain-
TMEM240-
-
-
-
3Gain-
TMEM241-
-
-
-
3Gain-
TMEM242p.S87F
Missense
SNP
0.330
2--
TMEM255B-
-
-
-
1Loss-
TMEM256-
-
-
-
3Gain-
TMEM256-PLSCR3-
-
-
-
3Gain-
TMEM266-
-
-
-
1Loss-
TMEM269-
-
-
-
3Gain-
TMEM272-
-
-
-
1Loss-
TMEM30A-
-
-
-
5Amp-
TMEM35B-
-
-
-
6Amp-
TMEM39A-
-
-
-
3Gain-
TMEM39B-
-
-
-
3Gain-
TMEM41A-
-
-
-
3Gain-
TMEM44-
-
-
-
3Gain-
TMEM45A-
-
-
-
3Gain-
TMEM50A-
-
-
-
3Gain-
TMEM51-
-
-
-
3Gain-
TMEM52-
-
-
-
3Gain-
TMEM53-
-
-
-
3Gain-
TMEM54-
-
-
-
3Gain-
TMEM56-
-
-
-
6Amp-
TMEM56-RWDD3-
-
-
-
6Amp-
TMEM59-
-
-
-
3Gain-
TMEM61-
-
-
-
3Gain-
TMEM69-
-
-
-
3Gain-
TMEM82-
-
-
-
3Gain-
TMEM88-
-
-
-
3Gain-
TMEM88B-
-
-
-
3Gain-
TMEM91-
-
-
-
3Gain-
TMEM94-
-
-
-
3Gain-
TMEM95-
-
-
-
3Gain-
TMIGD3-
-
-
-
5Amp-
TMOD4-
-
-
-
3Gain-
TMPO-
-
-
-
3Gain-
TMPRSS7-
-
-
-
3Gain-
TMTC3-
-
-
-
3Gain-
TMTC4-
-
-
-
1Loss-
TMX3-
-
-
-
1Loss-
TNFAIP8L2-
-
-
-
3Gain-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF12A-
-
-
-
1Loss-
TNFRSF13B-
-
-
-
3Gain-
TNFRSF14-
-
-
-
3Gain-
TNFRSF17-
-
-
-
6Amp-
TNFRSF18-
-
-
-
3Gain-
TNFRSF19-
-
-
-
1Loss-
TNFRSF1B-
-
-
-
3Gain-
TNFRSF25-
-
-
-
3Gain-
TNFRSF4-
-
-
-
3Gain-
TNFRSF6B-
-
-
-
3Gain-
TNFRSF8-
-
-
-
3Gain-
TNFRSF9-
-
-
-
3Gain-
TNFSF10-
-
-
-
3Gain-
TNFSF11-
-
-
-
1Loss-
TNFSF12-
-
-
-
3Gain-
TNFSF12-TNFSF13-
-
-
-
3Gain-
TNFSF13-
-
-
-
3Gain-
TNFSF13B-
-
-
-
1Loss-
TNIK-
-
-
-
3Gain-
TNK1-
-
-
-
3Gain-
TNK2-
-
-
-
3Gain-
TNNI3K-
-
-
-
3Gain-
TNP2-
-
-
-
6Amp-
TNRC6A-
-
-
-
1Loss-
TNRC6C-
-
-
-
3Gain-
TOE1-
-
-
-
3Gain-
TOM1L1-
-
-
-
3Gain-
TOM1L2-
-
-
-
3Gain-
TOMM70-
-
-
-
3Gain-
TOP3A-
-
-
-
3Gain-
TOPAZ1p.E1390K
p.S1535F
Missense
Missense
SNP
SNP
0.517
0.481
2--
TOPBP1-
-
-
-
3Gain-
TOR1AIP2p.S451L
Missense
SNP
0.607
2--
TP53p.R342*
p.P278F
Nonsense
Missense
SNP
MNP
0.670
0.374
3Gain-
TP53RK-
-
-
-
3Gain-
TP63-
-
-
-
3Gain-
TP73-
-
-
-
3Gain-
TPBG-
-
-
-
3Gain-
TPD52L2-
-
-
-
3Gain-
TPGS2-
-
-
-
1Loss-
TPM3-
-
-
-
3Gain-
TPOp.D238N
Missense
SNP
0.457
2--
TPP2p.P874L
Missense
SNP
0.925
1Loss-
TPRA1-
-
-
-
3Gain-
TPRG1-
-
-
-
3Gain-
TPRG1L-
-
-
-
3Gain-
TPT1-
-
-
-
1Loss-
TPTE2-
-
-
-
1Loss-
TRA2B-
-
-
-
3Gain-
TRABD2B-
-
-
-
3Gain-
TRAF3IP2-
-
-
-
3Gain-
TRAF7-
-
-
-
1Loss-
TRAP1-
-
-
-
1Loss-
TRAPPC1-
-
-
-
3Gain-
TRAPPC3-
-
-
-
6Amp-
TRARG1-
-
-
-
3Gain-
TRAT1-
-
-
-
3Gain-
TRH-
-
-
-
3Gain-
TRIM10p.R42C
Missense
SNP
0.457
2--
TRIM13-
-
-
-
1Loss-
TRIM16-
-
-
-
3Gain-
TRIM16L-
-
-
-
3Gain-
TRIM17p.R376Q
Missense
SNP
0.658
2--
TRIM25-
-
-
-
3Gain-
TRIM3p.P104L
Missense
SNP
0.493
2--
TRIM33-
-
-
-
5Amp-
TRIM37-
-
-
-
3Gain-
TRIM42-
-
-
-
3Gain-
TRIM45-
-
-
-
5Amp-
TRIM47-
-
-
-
3Gain-
TRIM59-
-
-
-
3Gain-
TRIM62-
-
-
-
3Gain-
TRIM63-
-
-
-
3Gain-
TRIM65-
-
-
-
3Gain-
TRIM72-
-
-
-
1Loss-
TRIOBPp.Q716E
Missense
SNP
0.569
2--
TRIT1-
-
-
-
3Gain-
TRMT10A-
-
-
-
1Loss-
TRMT10C-
-
-
-
3Gain-
TRMT13-
-
-
-
6Amp-
TRMT44-
-
-
-
1Loss-
TRNAU1AP-
-
-
-
3Gain-
TRNP1-
-
-
-
3Gain-
TRPC1-
-
-
-
3Gain-
TRPC4-
-
-
-
1Loss-
TRPV1-
-
-
-
3Gain-
TRPV2-
-
-
-
3Gain-
TRPV3-
-
-
-
3Gain-
TSC2-
-
-
-
1Loss-
TSC22D1-
-
-
-
1Loss-
TSC22D2-
-
-
-
3Gain-
TSEN54-
-
-
-
3Gain-
TSHB-
-
-
-
5Amp-
TSHRp.S79F
Missense
SNP
0.488
2--
TSHZ1-
-
-
-
1Loss-
TSHZ2-
-
-
-
3Gain-
TSHZ3-
-
-
-
3Gain-
TSPAN1-
-
-
-
3Gain-
TSPAN2-
-
-
-
5Amp-
TSPAN3-
-
-
-
1Loss-
TSPAN5-
-
-
-
1Loss-
TSPEARp.L340F
Missense
SNP
0.524
2--
TSPOAP1-
-
-
-
3Gain-
TSR1-
-
-
-
3Gain-
TSSK3-
-
-
-
3Gain-
TTC14-
-
-
-
3Gain-
TTC19-
-
-
-
3Gain-
TTC22-
-
-
-
3Gain-
TTC23-
-
-
-
3Gain-
TTC34-
-
-
-
3Gain-
TTC39A-
-
-
-
3Gain-
TTC39C-
-
-
-
3Gain-
TTC4-
-
-
-
3Gain-
TTC9B-
-
-
-
3Gain-
TTF2-
-
-
-
5Amp-
TTK-
-
-
-
3Gain-
TTLL10-
-
-
-
3Gain-
TTLL7-
-
-
-
3Gain-
TTNp.E10346K
p.P2858S
p.S291F
Missense
Missense
Missense
SNP
SNP
SNP
0.483
0.438
0.333
2--
TTYH2-
-
-
-
3Gain-
TUBp.R52W
Missense
SNP
0.600
2--
TUBA3C-
-
-
-
1Loss-
TUBB1-
-
-
-
3Gain-
TUBB6-
-
-
-
3Gain-
TUBD1-
-
-
-
3Gain-
TUBE1-
-
-
-
3Gain-
TUBGCP2-
-
-
-
1Loss-
TUBGCP3-
-
-
-
1Loss-
TUFM-
-
-
-
1Loss-
TUFT1-
-
-
-
3Gain-
TUT4-
-
-
-
3Gain-
TVP23A-
-
-
-
6Amp-
TVP23B-
-
-
-
3Gain-
TVP23C-
-
-
-
3Gain-
TVP23C-CDRT4-
-
-
-
3Gain-
TWSG1-
-
-
-
3Gain-
TXLNA-
-
-
-
3Gain-
TXNDC11-
-
-
-
6Amp-
TXNDC12-
-
-
-
3Gain-
TXNDC17-
-
-
-
3Gain-
TXNDC2-
-
-
-
3Gain-
TXNIP-
-
-
-
3Gain-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNRD3-
-
-
-
3Gain-
TYROBP-
-
-
-
3Gain-
TYW3-
-
-
-
3Gain-
U2AF1L4-
-
-
-
3Gain-
U2SURP-
-
-
-
3Gain-
UBA2-
-
-
-
3Gain-
UBA5-
-
-
-
3Gain-
UBAC2-
-
-
-
1Loss-
UBALD1-
-
-
-
1Loss-
UBALD2-
-
-
-
3Gain-
UBB-
-
-
-
3Gain-
UBE2G1-
-
-
-
3Gain-
UBE2J2-
-
-
-
3Gain-
UBE2N-
-
-
-
3Gain-
UBE2O-
-
-
-
3Gain-
UBE2Q2-
-
-
-
1Loss-
UBE2Q2L-
-
-
-
1Loss-
UBE2U-
-
-
-
3Gain-
UBE2V1-
-
-
-
3Gain-
UBE4B-
-
-
-
3Gain-
UBFD1-
-
-
-
1Loss-
UBIAD1-
-
-
-
3Gain-
UBL3-
-
-
-
1Loss-
UBL4B-
-
-
-
5Amp-
UBL7-
-
-
-
1Loss-
UBN1-
-
-
-
1Loss-
UBR4p.A1831V
Missense
SNP
0.719
3Gain-
UBXN10-
-
-
-
3Gain-
UBXN11-
-
-
-
3Gain-
UBXN7-
-
-
-
3Gain-
UCHL3-
-
-
-
1Loss-
UCKL1-
-
-
-
3Gain-
UFM1-
-
-
-
1Loss-
UGGT1p.I1175T
Missense
SNP
0.361
2--
UGGT2-
-
-
-
1Loss-
ULBP1-
-
-
-
4Gain-
ULBP2-
-
-
-
4Gain-
ULBP3-
-
-
-
4Gain-
ULK2p.S780F
Missense
SNP
0.200
3Gain-
ULK3-
-
-
-
1Loss-
UMOD-
-
-
-
1Loss-
UMPS-
-
-
-
3Gain-
UNC13D-
-
-
-
3Gain-
UNC45A-
-
-
-
3Gain-
UNC5C-
-
-
-
1Loss-
UNK-
-
-
-
3Gain-
UPF3A-
-
-
-
1Loss-
UPK1A-
-
-
-
3Gain-
UPK1B-
-
-
-
3Gain-
UQCRC2-
-
-
-
1Loss-
UQCRFS1-
-
-
-
3Gain-
UQCRH-
-
-
-
3Gain-
UQCRHL-
-
-
-
3Gain-
URAD-
-
-
-
1Loss-
URI1-
-
-
-
3Gain-
UROC1-
-
-
-
3Gain-
UROD-
-
-
-
3Gain-
USF2-
-
-
-
3Gain-
USF3-
-
-
-
3Gain-
USH1G-
-
-
-
3Gain-
USO1-
-
-
-
1Loss-
USP1-
-
-
-
3Gain-
USP12-
-
-
-
1Loss-
USP13-
-
-
-
3Gain-
USP17L13-
-
-
-
1Loss-
USP17L15-
-
-
-
1Loss-
USP17L18-
-
-
-
1Loss-
USP17L24-
-
-
-
1Loss-
USP17L25-
-
-
-
1Loss-
USP17L26-
-
-
-
1Loss-
USP17L27-
-
-
-
1Loss-
USP17L29-
-
-
-
1Loss-
USP17L30-
-
-
-
1Loss-
USP17L5-
-
-
-
1Loss-
USP22-
-
-
-
3Gain-
USP24-
-
-
-
3Gain-
USP31-
-
-
-
1Loss-
USP32-
-
-
-
3Gain-
USP33-
-
-
-
3Gain-
USP43-
-
-
-
3Gain-
USP44-
-
-
-
3Gain-
USP48-
-
-
-
3Gain-
USP6-
-
-
-
3Gain-
USPL1-
-
-
-
1Loss-
UST-
-
-
-
5Amp-
UTF1-
-
-
-
1Loss-
UTP11-
-
-
-
3Gain-
UTP14C-
-
-
-
1Loss-
UTP23p.R230K
Missense
SNP
0.236
2--
UTRN-
-
-
-
5Amp-
UTS2-
-
-
-
3Gain-
UTS2B-
-
-
-
3Gain-
VAMP2-
-
-
-
3Gain-
VAMP3-
-
-
-
3Gain-
VANGL1-
-
-
-
5Amp-
VANGL2-
-
-
-
2-VANGL2--CSRP1
VAPA-
-
-
-
3Gain-
VAPB-
-
-
-
3Gain-
VASN-
-
-
-
1Loss-
VAV3-
-
-
-
5Amp-
VCAM1-
-
-
-
6Amp-
VENTX-
-
-
-
1Loss-
VEPH1-
-
-
-
3Gain-
VEZF1-
-
-
-
3Gain-
VEZT-
-
-
-
3Gain-
VIP-
-
-
-
4Gain-
VKORC1-
-
-
-
1Loss-
VMO1-
-
-
-
3Gain-
VMP1-
-
-
-
3Gain-
VPS13D-
-
-
-
3Gain-
VPS33B-
-
-
-
3Gain-
VPS35L-
-
-
-
1Loss-
VPS36-
-
-
-
1Loss-
VPS45-
-
-
-
3Gain-
VPS4B-
-
-
-
1Loss-
VPS53-
-
-
-
3Gain-
VPS72-
-
-
-
3Gain-
VPS8-
-
-
-
3Gain-
VSTM2B-
-
-
-
3Gain-
VSTM4p.E226K
Missense
SNP
0.326
2--
VTA1p.D31N
Missense
SNP
0.307
2--
VTCN1-
-
-
-
5Amp-
VWA1-
-
-
-
3Gain-
VWA3Ap.T919M
Missense
SNP
0.397
1Loss-
VWA5B1-
-
-
-
3Gain-
VWA5B2-
-
-
-
3Gain-
VWA8-
-
-
-
1Loss-
WARS2-
-
-
-
5Amp-
WASF2-
-
-
-
3Gain-
WASF3-
-
-
-
1Loss-
WBP2-
-
-
-
3Gain-
WBP4-
-
-
-
1Loss-
WBSCR17p.G358E
p.P372L
Missense
Missense
SNP
SNP
0.476
0.400
NDND-
WDFY2-
-
-
-
1Loss-
WDFY3-
-
-
-
1Loss-
WDR1-
-
-
-
1Loss-
WDR3-
-
-
-
5Amp-
WDR47-
-
-
-
5Amp-
WDR49-
-
-
-
3Gain-
WDR53-
-
-
-
3Gain-
WDR5B-
-
-
-
3Gain-
WDR61-
-
-
-
1Loss-
WDR62-
-
-
-
3Gain-
WDR63-
-
-
-
3Gain-
WDR7-
-
-
-
1Loss-
WDR73-
-
-
-
1Loss-
WDR77-
-
-
-
5Amp-
WDR78-
-
-
-
3Gain-
WDR81-
-
-
-
3Gain-
WDR87-
-
-
-
3Gain-
WDR88-
-
-
-
3Gain-
WDR93p.E264K
Missense
SNP
0.636
2--
WDTC1-
-
-
-
3Gain-
WHAMM-
-
-
-
1Loss-
WIPI1-
-
-
-
3Gain-
WISP3-
-
-
-
3Gain-
WLS-
-
-
-
3Gain-
WNT2p.D232N
Missense
SNP
0.384
2--
WNT2B-
-
-
-
5Amp-
WNT4-
-
-
-
3Gain-
WRAP53-
-
-
-
3Gain-
WRAP73-
-
-
-
3Gain-
WSCD1-
-
-
-
3Gain-
WT1p.R370C
Missense
SNP
0.600
2--
WTIP-
-
-
-
3Gain-
WWTR1-
-
-
-
3Gain-
XAB2p.A91V
Missense
SNP
0.400
2--
XAF1-
-
-
-
3Gain-
XIRP2p.H1344Y
Missense
SNP
0.487
2--
XKR8-
-
-
-
3Gain-
XPO4-
-
-
-
1Loss-
XPO6-
-
-
-
1Loss-
XRN1-
-
-
-
3Gain-
XXYLT1-
-
-
-
3Gain-
XYLT1-
-
-
-
6Amp-
YARS-
-
-
-
3Gain-
YBX1-
-
-
-
3Gain-
YBX2-
-
-
-
3Gain-
YEATS2-
-
-
-
3Gain-
YEATS4-
-
-
-
3Gain-
YIF1B-
-
-
-
3Gain-
YIPF1-
-
-
-
3Gain-
YPEL2-
-
-
-
3Gain-
YPEL3-
-
-
-
1Loss-
YRDC-
-
-
-
3Gain-
YTHDF1-
-
-
-
3Gain-
YTHDF2-
-
-
-
3Gain-
YWHAE-
-
-
-
3Gain-
ZACN-
-
-
-
3Gain-
ZADH2-
-
-
-
1Loss-
ZAR1L-
-
-
-
1Loss-
ZBBX-
-
-
-
3Gain-
ZBED2-
-
-
-
3Gain-
ZBP1-
-
-
-
3Gain-
ZBTB11p.R764*
Nonsense
SNP
0.602
3Gain-
ZBTB14-
-
-
-
3Gain-
ZBTB17-
-
-
-
3Gain-
ZBTB2p.E205K
p.E96K
Missense
Missense
SNP
SNP
0.298
0.244
4Gain-
ZBTB20-
-
-
-
3Gain-
ZBTB32-
-
-
-
3Gain-
ZBTB38-
-
-
-
3Gain-
ZBTB4-
-
-
-
3Gain-
ZBTB40-
-
-
-
3Gain-
ZBTB46-
-
-
-
3Gain-
ZBTB48-
-
-
-
3Gain-
ZBTB7C-
-
-
-
1Loss-
ZBTB8A-
-
-
-
3Gain-
ZBTB8B-
-
-
-
3Gain-
ZBTB8OS-
-
-
-
3Gain-
ZBTB9p.P245S
Missense
SNP
0.492
2--
ZC2HC1B-
-
-
-
5Amp-
ZC3H12A-
-
-
-
3Gain-
ZC3H12D-
-
-
-
4Gain-
ZC3H13-
-
-
-
1Loss-
ZC3H7A-
-
-
-
6Amp-
ZCCHC17-
-
-
-
3Gain-
ZCCHC2-
-
-
-
1Loss-
ZDHHC17-
-
-
-
3Gain-
ZDHHC18-
-
-
-
3Gain-
ZDHHC19-
-
-
-
3Gain-
ZDHHC2p.S167L
Missense
SNP
0.571
2--
ZDHHC20-
-
-
-
1Loss-
ZDHHC23-
-
-
-
3Gain-
ZFAND6-
-
-
-
1Loss-
ZFHX4p.P2463S
Missense
SNP
0.273
2--
ZFP14-
-
-
-
3Gain-
ZFP3-
-
-
-
3Gain-
ZFP30-
-
-
-
3Gain-
ZFP36-
-
-
-
3Gain-
ZFP64-
-
-
-
3Gain-
ZFP69-
-
-
-
3Gain-
ZFP69B-
-
-
-
3Gain-
ZFP82-
-
-
-
3Gain-
ZFP91p.P138S
Missense
SNP
0.596
2--
ZFYVE28p.D338N
Missense
SNP
0.627
2--
ZFYVE9-
-
-
-
3Gain-
ZG16-
-
-
-
1Loss-
ZG16B-
-
-
-
1Loss-
ZGPAT-
-
-
-
3Gain-
ZIC1-
-
-
-
3Gain-
ZIC2-
-
-
-
1Loss-
ZIC4-
-
-
-
3Gain-
ZIC5-
-
-
-
1Loss-
ZKSCAN2-
-
-
-
1Loss-
ZMAT1p.L636F
Missense
SNP
0.824
NDND-
ZMAT3-
-
-
-
3Gain-
ZMPSTE24-
-
-
-
3Gain-
ZMYM1-
-
-
-
6Amp-
ZMYM2-
-
-
-
1Loss-
ZMYM4-
-
-
-
6Amp-
ZMYM5-
-
-
-
1Loss-
ZMYM6-
-
-
-
6Amp-
ZMYND12-
-
-
-
3Gain-
ZMYND15-
-
-
-
3Gain-
ZMYND8-
-
-
-
3Gain-
ZNF146-
-
-
-
3Gain-
ZNF148-
-
-
-
3Gain-
ZNF174-
-
-
-
1Loss-
ZNF18-
-
-
-
3Gain-
ZNF181-
-
-
-
3Gain-
ZNF200-
-
-
-
1Loss-
ZNF205-
-
-
-
1Loss-
ZNF211p.F72L
Missense
SNP
0.580
2--
ZNF213-
-
-
-
1Loss-
ZNF217-
-
-
-
3Gain-
ZNF222p.S108F
Missense
SNP
0.571
2--
ZNF232-
-
-
-
3Gain-
ZNF236-
-
-
-
1Loss-
ZNF24-
-
-
-
1Loss-
ZNF260-
-
-
-
3Gain-
ZNF263-
-
-
-
1Loss-
ZNF267-
-
-
-
1Loss-
ZNF280Bp.P435L
Missense
SNP
0.641
2--
ZNF286A-
-
-
-
3Gain-
ZNF286B-
-
-
-
3Gain-
ZNF287-
-
-
-
3Gain-
ZNF30-
-
-
-
3Gain-
ZNF302-
-
-
-
3Gain-
ZNF326-
-
-
-
3Gain-
ZNF334-
-
-
-
3Gain-
ZNF345-
-
-
-
3Gain-
ZNF362-
-
-
-
3Gain-
ZNF382-
-
-
-
3Gain-
ZNF383-
-
-
-
3Gain-
ZNF396-
-
-
-
1Loss-
ZNF397-
-
-
-
1Loss-
ZNF407-
-
-
-
1Loss-
ZNF418p.R658*
Nonsense
SNP
0.279
2--
ZNF420-
-
-
-
3Gain-
ZNF436-
-
-
-
3Gain-
ZNF461-
-
-
-
3Gain-
ZNF48-
-
-
-
1Loss-
ZNF492p.R385K
Missense
SNP
0.331
2--
ZNF500-
-
-
-
1Loss-
ZNF507-
-
-
-
3Gain-
ZNF511-
-
-
-
1Loss-
ZNF511-PRAP1-
-
-
-
1Loss-
ZNF512B-
-
-
-
3Gain-
ZNF516-
-
-
-
1Loss-
ZNF519-
-
-
-
3Gain-
ZNF521p.S568L
Missense
SNP
0.405
1Loss-
ZNF526-
-
-
-
3Gain-
ZNF527-
-
-
-
3Gain-
ZNF529-
-
-
-
3Gain-
ZNF532-
-
-
-
1Loss-
ZNF536-
-
-
-
3Gain-
ZNF540-
-
-
-
3Gain-
ZNF546-
-
-
-
3Gain-
ZNF565-
-
-
-
3Gain-
ZNF566-
-
-
-
3Gain-
ZNF567-
-
-
-
3Gain-
ZNF568-
-
-
-
3Gain-
ZNF569-
-
-
-
3Gain-
ZNF570-
-
-
-
3Gain-
ZNF571-
-
-
-
3Gain-
ZNF573-
-
-
-
3Gain-
ZNF574-
-
-
-
3Gain-
ZNF583p.W65*
Nonsense
SNP
0.255
2--
ZNF585A-
-
-
-
3Gain-
ZNF585B-
-
-
-
3Gain-
ZNF592-
-
-
-
1Loss-
ZNF593-
-
-
-
3Gain-
ZNF594-
-
-
-
3Gain-
ZNF597-
-
-
-
1Loss-
ZNF598-
-
-
-
1Loss-
ZNF599-
-
-
-
3Gain-
ZNF607-
-
-
-
3Gain-
ZNF624-
-
-
-
3Gain-
ZNF629-
-
-
-
1Loss-
ZNF639-
-
-
-
3Gain-
ZNF644-
-
-
-
3Gain-
ZNF646-
-
-
-
1Loss-
ZNF668-
-
-
-
1Loss-
ZNF683-
-
-
-
3Gain-
ZNF684-
-
-
-
3Gain-
ZNF687-
-
-
-
3Gain-
ZNF688-
-
-
-
1Loss-
ZNF689-
-
-
-
1Loss-
ZNF691-
-
-
-
3Gain-
ZNF697-
-
-
-
5Amp-
ZNF700p.R409*
Nonsense
SNP
0.505
2--
ZNF716p.R288K
Missense
SNP
0.515
2--
ZNF720-
-
-
-
1Loss-
ZNF727p.R304K
Missense
SNP
0.450
2--
ZNF747-
-
-
-
1Loss-
ZNF75A-
-
-
-
1Loss-
ZNF764-
-
-
-
1Loss-
ZNF768-
-
-
-
1Loss-
ZNF771-
-
-
-
1Loss-
ZNF780A-
-
-
-
3Gain-
ZNF780B-
-
-
-
3Gain-
ZNF781-
-
-
-
3Gain-
ZNF785-
-
-
-
1Loss-
ZNF790-
-
-
-
3Gain-
ZNF792p.E587K
p.L486V
p.P176S
Missense
Missense
Missense
SNP
SNP
SNP
0.235
0.667
0.248
3Gain-
ZNF793-
-
-
-
3Gain-
ZNF80-
-
-
-
3Gain-
ZNF808p.P212L
Missense
SNP
0.323
2--
ZNF829-
-
-
-
3Gain-
ZNF831-
-
-
-
3Gain-
ZNF843-
-
-
-
1Loss-
ZNF850-
-
-
-
3Gain-
ZNF878p.S241L
Missense
SNP
0.500
2--
ZNFX1-
-
-
-
3Gain-
ZNHIT6-
-
-
-
3Gain-
ZNRF3p.S291F
Missense
SNP
0.244
2--
ZP1p.D97N
Missense
SNP
0.650
2--
ZP2-
-
-
-
1Loss-
ZPBP2p.G82E
Missense
SNP
0.867
2--
ZPLD1-
-
-
-
3Gain-
ZRANB2-
-
-
-
3Gain-
ZSCAN10-
-
-
-
1Loss-
ZSCAN2-
-
-
-
1Loss-
ZSCAN20-
-
-
-
3Gain-
ZSCAN30-
-
-
-
1Loss-
ZSCAN32-
-
-
-
1Loss-
ZSCAN5Ap.S324F
Missense
SNP
0.583
2--
ZSWIM5-
-
-
-
3Gain-
ZSWIM7-
-
-
-
3Gain-
ZXDC-
-
-
-
3Gain-
ZYG11A-
-
-
-
3Gain-
ZYG11Bp.P653L
Missense
SNP
0.161
3Gain-
ZZEF1-
-
-
-
3Gain-