PDMR-994946~033-R~A3JEK4-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BG-
-
-
-
1Loss-
A2M-
-
-
-
3Gain-
A2ML1-
-
-
-
3Gain-
A3GALT2-
-
-
-
3Gain-
A4GALT-
-
-
-
3Gain-
AADACp.R357C
Missense
SNP
0.484
2--
AADACL3-
-
-
-
3Gain-
AADACL4-
-
-
-
3Gain-
AAGAB-
-
-
-
3Gain-
AAMDC-
-
-
-
3Gain-
AANAT-
-
-
-
3Gain-
AAR2-
-
-
-
5Amp-
AARS2-
-
-
-
3Gain-
AARSD1-
-
-
-
3Gain-
AASDHPPT-
-
-
-
1Loss-
AASS-
-
-
-
3Gain-
AATF-
-
-
-
3Gain-
AATKp.R675C
Missense
SNP
0.326
3Gain-
ABCA10-
-
-
-
3Gain-
ABCA12p.X2515_splice
p.E2209K
Splice_Site
Missense
SNP
SNP
0.451
0.468
2--
ABCA13p.D158N
Missense
SNP
0.386
3Gain-
ABCA4-
-
-
-
3Gain-
ABCA5-
-
-
-
3Gain-
ABCA6-
-
-
-
3Gain-
ABCA7-
-
-
-
1Loss-
ABCA8p.L1535F
Missense
SNP
0.379
3Gain-
ABCA9-
-
-
-
3Gain-
ABCB1p.R492C
Missense
SNP
0.478
3Gain-
ABCB10-
-
-
-
3Gain-
ABCB4-
-
-
-
3Gain-
ABCB5-
-
-
-
3Gain-
ABCB8-
-
-
-
3Gain-
ABCB9-
-
-
-
3Gain-
ABCC10-
-
-
-
3Gain-
ABCC3-
-
-
-
3Gain-
ABCC9p.E1162K
Missense
SNP
0.371
3Gain-
ABCD3-
-
-
-
3Gain-
ABCF2-
-
-
-
3Gain-
ABCG4-
-
-
-
1Loss-
ABHD11-
-
-
-
3Gain-
ABHD16B-
-
-
-
5Amp-
ABHD17A-
-
-
-
1Loss-
ABHD17C-
-
-
-
3Gain-
ABHD2-
-
-
-
3Gain-
ABI3-
-
-
-
3Gain-
ABL2-
-
-
-
3Gain-
ABLIM3-
-
-
-
3Gain-
ABRAp.E5K
Missense
SNP
0.309
3Gain-
AC000120.2-
-
-
-
3Gain-
AC000120.3-
-
-
-
3Gain-
AC002996.1-
-
-
-
3Gain-
AC003002.1-
-
-
-
1Loss-
AC003002.2-
-
-
-
1Loss-
AC003002.3-
-
-
-
1Loss-
AC003005.1-
-
-
-
1Loss-
AC003006.1-
-
-
-
1Loss-
AC004076.1-
-
-
-
1Loss-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004687.2-
-
-
-
3Gain-
AC004691.2-
-
-
-
3Gain-
AC004805.1-
-
-
-
3Gain-
AC004832.3-
-
-
-
3Gain-
AC004922.1-
-
-
-
3Gain-
AC004997.1-
-
-
-
3Gain-
AC005020.2-
-
-
-
3Gain-
AC005154.5-
-
-
-
3Gain-
AC005258.1-
-
-
-
1Loss-
AC005670.2-
-
-
-
3Gain-
AC005702.1-
-
-
-
3Gain-
AC005832.4-
-
-
-
3Gain-
AC005833.1-
-
-
-
3Gain-
AC005837.2-
-
-
-
3Gain-
AC005943.1-
-
-
-
1Loss-
AC006064.6-
-
-
-
3Gain-
AC006518.7-
-
-
-
3Gain-
AC006538.2-
-
-
-
1Loss-
AC006978.2-
-
-
-
3Gain-
AC007326.4-
-
-
-
3Gain-
AC007731.5-
-
-
-
3Gain-
AC008012.1-
-
-
-
3Gain-
AC008575.1-
-
-
-
3Gain-
AC008581.2-
-
-
-
3Gain-
AC008676.3-
-
-
-
3Gain-
AC008695.1-
-
-
-
3Gain-
AC008750.8-
-
-
-
1Loss-
AC009690.1-
-
-
-
3Gain-
AC009690.3-
-
-
-
3Gain-
AC009879.2-
-
-
-
3Gain-
AC009879.3-
-
-
-
3Gain-
AC010132.3-
-
-
-
3Gain-
AC010197.2-
-
-
-
3Gain-
AC010255.3-
-
-
-
3Gain-
AC010326.2-
-
-
-
1Loss-
AC010487.3-
-
-
-
1Loss-
AC010522.1-
-
-
-
1Loss-
AC010615.4-
-
-
-
1Loss-
AC011005.1-
-
-
-
3Gain-
AC011195.2-
-
-
-
3Gain-
AC011330.3-
-
-
-
3Gain-
AC011473.4-
-
-
-
1Loss-
AC011498.4-
-
-
-
1Loss-
AC011604.2-
-
-
-
3Gain-
AC012213.5-
-
-
-
3Gain-
AC012476.1-
-
-
-
3Gain-
AC012651.1-
-
-
-
3Gain-
AC013394.1-
-
-
-
3Gain-
AC013489.1-
-
-
-
3Gain-
AC015802.6-
-
-
-
3Gain-
AC015813.2-
-
-
-
3Gain-
AC018362.3-
-
-
-
3Gain-
AC018512.1-
-
-
-
3Gain-
AC018554.3-
-
-
-
3Gain-
AC018755.2-
-
-
-
1Loss-
AC019117.2-
-
-
-
3Gain-
AC020915.1-
-
-
-
1Loss-
AC020915.5-
-
-
-
1Loss-
AC021097.2-
-
-
-
3Gain-
AC021097.3-
-
-
-
3Gain-
AC022335.1-
-
-
-
3Gain-
AC022384.1-
-
-
-
1Loss-
AC022414.1-
-
-
-
3Gain-
AC022826.2-
-
-
-
3Gain-
AC026398.1-
-
-
-
3Gain-
AC027644.4-
-
-
-
3Gain-
AC036214.3-
-
-
-
3Gain-
AC046185.1-
-
-
-
3Gain-
AC048338.1-
-
-
-
3Gain-
AC067968.1-
-
-
-
1Loss-
AC068234.1-
-
-
-
3Gain-
AC068533.4-
-
-
-
3Gain-
AC068775.1-
-
-
-
3Gain-
AC068831.7-
-
-
-
3Gain-
AC069368.1-
-
-
-
3Gain-
AC069503.2-
-
-
-
3Gain-
AC073111.3-
-
-
-
3Gain-
AC073111.5-
-
-
-
3Gain-
AC073508.2-
-
-
-
3Gain-
AC079447.1-
-
-
-
1Loss-
AC087289.3-
-
-
-
3Gain-
AC087632.1-
-
-
-
3Gain-
AC087721.2-
-
-
-
3Gain-
AC090004.1-
-
-
-
1Loss-
AC090517.4-
-
-
-
3Gain-
AC090527.2-
-
-
-
3Gain-
AC091057.6-
-
-
-
1Loss-
AC091167.2-
-
-
-
3Gain-
AC091167.6-
-
-
-
3Gain-
AC091167.7-
-
-
-
3Gain-
AC091959.3-
-
-
-
3Gain-
AC092017.3-
-
-
-
3Gain-
AC092111.3-
-
-
-
3Gain-
AC092329.3-
-
-
-
1Loss-
AC092587.1-
-
-
-
1Loss-
AC092647.5-
-
-
-
3Gain-
AC092835.1-
-
-
-
1Loss-
AC093155.3-
-
-
-
3Gain-
AC093423.3-
-
-
-
3Gain-
AC093668.1-
-
-
-
3Gain-
AC093668.2-
-
-
-
3Gain-
AC093668.3-
-
-
-
3Gain-
AC098484.3-
-
-
-
3Gain-
AC098650.1-
-
-
-
1Loss-
AC099811.2-
-
-
-
3Gain-
AC099850.2-
-
-
-
3Gain-
AC104109.3-
-
-
-
3Gain-
AC105052.1-
-
-
-
3Gain-
AC105052.3-
-
-
-
3Gain-
AC107871.1-
-
-
-
3Gain-
AC112229.3-
-
-
-
1Loss-
AC113348.2-
-
-
-
3Gain-
AC113554.1-
-
-
-
3Gain-
AC114490.2-
-
-
-
3Gain-
AC114490.3-
-
-
-
3Gain-
AC115220.1-
-
-
-
3Gain-
AC116366.3-
-
-
-
3Gain-
AC118470.1-
-
-
-
3Gain-
AC118549.1-
-
-
-
3Gain-
AC118553.2-
-
-
-
3Gain-
AC119674.2-
-
-
-
3Gain-
AC124312.1-
-
-
-
3Gain-
AC127029.3-
-
-
-
3Gain-
AC134980.3-
-
-
-
3Gain-
AC135068.1-
-
-
-
3Gain-
AC135068.3-
-
-
-
3Gain-
AC139491.7-
-
-
-
3Gain-
AC139530.2-
-
-
-
3Gain-
AC142391.1-
-
-
-
3Gain-
AC187653.1-
-
-
-
3Gain-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
AC244517.10-
-
-
-
3Gain-
AC245033.1-
-
-
-
3Gain-
AC245748.1-
-
-
-
1Loss-
AC253536.7-
-
-
-
3Gain-
ACACA-
-
-
-
3Gain-
ACACB-
-
-
-
4Gain-
ACAD10-
-
-
-
3Gain-
ACAD8p.Q241*
Nonsense
SNP
0.984
1Loss-
ACADLp.G94E
Missense
SNP
0.527
2--
ACADM-
-
-
-
3Gain-
ACADS-
-
-
-
3Gain-
ACAN-
-
-
-
3Gain-
ACAP3-
-
-
-
3Gain-
ACAT1-
-
-
-
1Loss-
ACBD3-
-
-
-
3Gain-
ACBD4-
-
-
-
3Gain-
ACBD6-
-
-
-
3Gain-
ACE-
-
-
-
3Gain-
ACER3-
-
-
-
3Gain-
ACHE-
-
-
-
3Gain-
ACKR1-
-
-
-
3Gain-
ACLY-
-
-
-
3Gain-
ACMSD-
-
-
-
1Loss-
ACO2-
-
-
-
3Gain-
ACOT11-
-
-
-
3Gain-
ACOT12-
-
-
-
3Gain-
ACOT13-
-
-
-
3Gain-
ACOT7-
-
-
-
3Gain-
ACOT8-
-
-
-
5Amp-
ACOX1-
-
-
-
3Gain-
ACOXL-
-
-
-
1Loss-
ACP6-
-
-
-
3Gain-
ACR-
-
-
-
3Gain-
ACRBP-
-
-
-
3Gain-
ACRV1-
-
-
-
1Loss-
ACSBG1-
-
-
-
3Gain-
ACSF2-
-
-
-
3Gain-
ACSL6-
-
-
-
3Gain-
ACSM4p.E418K
Missense
SNP
0.633
3Gain-
ACSM6p.G66R
Missense
SNP
0.518
2--
ACSS2-
-
-
-
5Amp-
ACTA1-
-
-
-
3Gain-
ACTB-
-
-
-
3Gain-
ACTBL2-
-
-
-
3Gain-
ACTC1-
-
-
-
3Gain-
ACTG1-
-
-
-
3Gain-
ACTL10-
-
-
-
5Amp-
ACTL6B-
-
-
-
3Gain-
ACTL8-
-
-
-
3Gain-
ACTN2-
-
-
-
3Gain-
ACTN3-
-
-
-
3Gain-
ACTR1Bp.E53*
Nonsense
SNP
0.500
1Loss-
ACTR3-
-
-
-
1Loss-
ACTR3B-
-
-
-
3Gain-
ACTR3C-
-
-
-
3Gain-
ACTR5-
-
-
-
5Amp-
ACTRT2-
-
-
-
3Gain-
ACVR1p.S290L
Missense
SNP
0.555
2--
ACY3p.D86N
Missense
SNP
0.291
3Gain-
ADA-
-
-
-
5Amp-
ADA2-
-
-
-
3Gain-
ADAL-
-
-
-
3Gain-
ADAM10-
-
-
-
3Gain-
ADAM11-
-
-
-
3Gain-
ADAM15-
-
-
-
3Gain-
ADAM19-
-
-
-
3Gain-
ADAM22-
-
-
-
3Gain-
ADAM30-
-
-
-
3Gain-
ADAM7p.P491S
p.P548S
Missense
Missense
SNP
SNP
0.598
0.368
2--
ADAMTS15-
-
-
-
1Loss-
ADAMTS17-
-
-
-
3Gain-
ADAMTS18p.P861S
Missense
SNP
0.410
2--
ADAMTS19p.E582K
Missense
SNP
0.670
3Gain-
ADAMTS2-
-
-
-
3Gain-
ADAMTS4-
-
-
-
3Gain-
ADAMTS6-
-
-
-
3Gain-
ADAMTS7-
-
-
-
3Gain-
ADAMTS8-
-
-
-
1Loss-
ADAMTSL3-
-
-
-
3Gain-
ADAMTSL4-
-
-
-
3Gain-
ADAMTSL5-
-
-
-
1Loss-
ADAP1-
-
-
-
3Gain-
ADAR-
-
-
-
3Gain-
ADAT1p.S441L
Missense
SNP
0.495
2--
ADAT3-
-
-
-
1Loss-
ADCK2-
-
-
-
3Gain-
ADCY1-
-
-
-
3Gain-
ADCY10-
-
-
-
3Gain-
ADCY5p.E1031K
Missense
SNP
0.540
2--
ADCYAP1R1-
-
-
-
3Gain-
ADGRB2-
-
-
-
3Gain-
ADGRB3p.D604N
Missense
SNP
0.299
3Gain-
ADGRF1-
-
-
-
3Gain-
ADGRF2-
-
-
-
3Gain-
ADGRF4-
-
-
-
3Gain-
ADGRF5-
-
-
-
3Gain-
ADGRL2-
-
-
-
3Gain-
ADGRL4-
-
-
-
3Gain-
ADGRV1p.D1693N
Missense
SNP
0.360
3Gain-
ADHFE1-
-
-
-
3Gain-
ADIG-
-
-
-
5Amp-
ADIPOR1-
-
-
-
3Gain-
ADIPOR2-
-
-
-
3Gain-
ADM2-
-
-
-
3Gain-
ADNP-
-
-
-
5Amp-
ADORA1-
-
-
-
3Gain-
ADORA2A-
-
-
-
3Gain-
ADORA3-
-
-
-
3Gain-
ADPGK-
-
-
-
3Gain-
ADPRHL2-
-
-
-
3Gain-
ADRA1B-
-
-
-
3Gain-
ADRA2B-
-
-
-
1Loss-
ADRB2-
-
-
-
3Gain-
ADRM1-
-
-
-
5Amp-
ADSL-
-
-
-
3Gain-
ADSS-
-
-
-
3Gain-
ADSSL1-
-
-
-
1Loss-
ADTRP-
-
-
-
3Gain-
AEBP1-
-
-
-
3Gain-
AEBP2-
-
-
-
3Gain-
AEN-
-
-
-
3Gain-
AES-
-
-
-
1Loss-
AFAP1L1-
-
-
-
3Gain-
AFF3-
-
-
-
1Loss-
AFF4-
-
-
-
3Gain-
AFMID-
-
-
-
3Gain-
AGAP3-
-
-
-
3Gain-
AGBL1-
-
-
-
3Gain-
AGBL3-
-
-
-
3Gain-
AGBL4-
-
-
-
3Gain-
AGER-
-
-
-
3Gain-
AGFG2-
-
-
-
3Gain-
AGGF1-
-
-
-
3Gain-
AGK-
-
-
-
3Gain-
AGL-
-
-
-
3Gain-
AGMAT-
-
-
-
3Gain-
AGMO-
-
-
-
3Gain-
AGO1-
-
-
-
3Gain-
AGO3-
-
-
-
3Gain-
AGO4p.H34Y
Missense
SNP
0.452
3Gain-
AGPAT1-
-
-
-
3Gain-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGRN-
-
-
-
3Gain-
AGT-
-
-
-
3Gain-
AGTRAP-
-
-
-
3Gain-
AHCTF1-
-
-
-
3Gain-
AHCY-
-
-
-
5Amp-
AHCYL1-
-
-
-
3Gain-
AHCYL2-
-
-
-
3Gain-
AHDC1-
-
-
-
3Gain-
AHNAK-
-
-
-
3Gain-
AHNAK2-
-
-
-
1Loss-
AHR-
-
-
-
3Gain-
AICDA-
-
-
-
3Gain-
AIDA-
-
-
-
3Gain-
AIFM3-
-
-
-
3Gain-
AIM2-
-
-
-
3Gain-
AIMP2-
-
-
-
3Gain-
AIP-
-
-
-
3Gain-
AJAP1-
-
-
-
3Gain-
AK2-
-
-
-
3Gain-
AK4-
-
-
-
3Gain-
AK5-
-
-
-
3Gain-
AK6-
-
-
-
3Gain-
AKAP1-
-
-
-
3Gain-
AKAP13-
-
-
-
3Gain-
AKAP3-
-
-
-
3Gain-
AKAP9-
-
-
-
3Gain-
AKIRIN1-
-
-
-
3Gain-
AKIRIN2-
-
-
-
3Gain-
AKNAD1-
-
-
-
3Gain-
AKR1A1-
-
-
-
3Gain-
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1C4p.L235I
Missense
SNP
0.511
2--
AKR1D1p.E80K
Missense
SNP
0.547
3Gain-
AKR7A2-
-
-
-
3Gain-
AKR7A3-
-
-
-
3Gain-
AKR7L-
-
-
-
3Gain-
AKT1-
-
-
-
1Loss-
AKT3-
-
-
-
3Gain-
AL020996.2-
-
-
-
3Gain-
AL021546.1-
-
-
-
3Gain-
AL022238.4-
-
-
-
3Gain-
AL022318.4-
-
-
-
3Gain-
AL024498.2-
-
-
-
3Gain-
AL031281.2-
-
-
-
3Gain-
AL031847.2-
-
-
-
3Gain-
AL033529.1-
-
-
-
3Gain-
AL049557.1-
-
-
-
3Gain-
AL049697.1-
-
-
-
3Gain-
AL080251.1-
-
-
-
3Gain-
AL096814.1-
-
-
-
3Gain-
AL109811.4-
-
-
-
3Gain-
AL109827.1-
-
-
-
5Amp-
AL117348.2-
-
-
-
3Gain-
AL121753.1-
-
-
-
5Amp-
AL121845.2-
-
-
-
5Amp-
AL121845.3-
-
-
-
5Amp-
AL139011.2-
-
-
-
3Gain-
AL139099.4-
-
-
-
NDNDFARSB--AL139099.4
AL139142.2-
-
-
-
3Gain-
AL139300.1-
-
-
-
1Loss-
AL353588.1-
-
-
-
3Gain-
AL357673.1-
-
-
-
3Gain-
AL358075.4-
-
-
-
3Gain-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL365205.1-
-
-
-
3Gain-
AL365232.1-
-
-
-
3Gain-
AL445685.3-
-
-
-
3Gain-
AL449266.1-
-
-
-
3Gain-
AL451062.3-
-
-
-
3Gain-
AL512428.1-
-
-
-
3Gain-
AL512785.2-
-
-
-
3Gain-
AL589666.1-
-
-
-
3Gain-
AL590132.1-
-
-
-
3Gain-
AL591806.3-
-
-
-
3Gain-
AL603832.3-
-
-
-
3Gain-
AL645941.2-
-
-
-
3Gain-
AL662884.4-
-
-
-
3Gain-
AL669918.1-
-
-
-
3Gain-
AL672043.1-
-
-
-
3Gain-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
AL845331.2-
-
-
-
1Loss-
ALDH1A2-
-
-
-
3Gain-
ALDH1A3-
-
-
-
3Gain-
ALDH1L2-
-
-
-
1Loss-
ALDH2-
-
-
-
3Gain-
ALDH3B1-
-
-
-
3Gain-
ALDH3B2-
-
-
-
3Gain-
ALDH4A1-
-
-
-
3Gain-
ALDH5A1-
-
-
-
3Gain-
ALDH7A1-
-
-
-
3Gain-
ALDH9A1-
-
-
-
3Gain-
ALG10p.R416C
Missense
SNP
0.647
3Gain-
ALG12-
-
-
-
3Gain-
ALG14-
-
-
-
3Gain-
ALG6-
-
-
-
3Gain-
ALG8-
-
-
-
3Gain-
ALG9-
-
-
-
1Loss-
ALKBH2-
-
-
-
4Gain-
ALKBH4-
-
-
-
3Gain-
ALKBH8-
-
-
-
1Loss-
ALPK3-
-
-
-
3Gain-
ALPL-
-
-
-
3Gain-
ALPPL2p.G413R
Missense
SNP
0.448
NDND-
ALX3-
-
-
-
3Gain-
ALYREF-
-
-
-
3Gain-
AMER3-
-
-
-
1Loss-
AMH-
-
-
-
1Loss-
AMIGO1-
-
-
-
3Gain-
AMMECR1L-
-
-
-
1Loss-
AMN-
-
-
-
1Loss-
AMN1-
-
-
-
3Gain-
AMOTp.P880S
Missense
SNP
0.462
NDND-
AMOTL1p.R238C
Missense
SNP
0.734
3Gain-
AMPD1-
-
-
-
3Gain-
AMPD2-
-
-
-
3Gain-
AMPH-
-
-
-
3Gain-
AMY2A-
-
-
-
3Gain-
AMY2B-
-
-
-
3Gain-
AMZ1-
-
-
-
3Gain-
AMZ2-
-
-
-
3Gain-
ANAPC1-
-
-
-
1Loss-
ANAPC11-
-
-
-
3Gain-
ANAPC15-
-
-
-
3Gain-
ANAPC5-
-
-
-
3Gain-
ANAPC7-
-
-
-
3Gain-
ANGEL2-
-
-
-
3Gain-
ANGPT1-
-
-
-
3Gain-
ANGPTL1-
-
-
-
3Gain-
ANGPTL3-
-
-
-
3Gain-
ANGPTL5-
-
-
-
1Loss-
ANGPTL7-
-
-
-
3Gain-
ANK3p.Q611*
Nonsense
SNP
0.438
2--
ANKDD1A-
-
-
-
3Gain-
ANKDD1B-
-
-
-
3Gain-
ANKFN1-
-
-
-
3Gain-
ANKHD1-
-
-
-
3Gain-
ANKHD1-EIF4EBP3-
-
-
-
3Gain-
ANKIB1-
-
-
-
3Gain-
ANKK1-
-
-
-
1Loss-
ANKMY2-
-
-
-
3Gain-
ANKRA2-
-
-
-
3Gain-
ANKRD13A-
-
-
-
1Loss-
ANKRD13C-
-
-
-
3Gain-
ANKRD13D-
-
-
-
3Gain-
ANKRD23-
-
-
-
1Loss-
ANKRD24-
-
-
-
1Loss-
ANKRD28-
-
-
-
1Loss-
ANKRD30BL-
-
-
-
1Loss-
ANKRD31-
-
-
-
3Gain-
ANKRD34A-
-
-
-
3Gain-
ANKRD34B-
-
-
-
3Gain-
ANKRD34C-
-
-
-
3Gain-
ANKRD35-
-
-
-
3Gain-
ANKRD36-
-
-
-
1Loss-
ANKRD36B-
-
-
-
1Loss-
ANKRD36C-
-
-
-
1Loss-
ANKRD39-
-
-
-
1Loss-
ANKRD40-
-
-
-
3Gain-
ANKRD40CL-
-
-
-
3Gain-
ANKRD42-
-
-
-
3Gain-
ANKRD45-
-
-
-
3Gain-
ANKRD46-
-
-
-
3Gain-
ANKRD49-
-
-
-
3Gain-
ANKRD54-
-
-
-
3Gain-
ANKRD55-
-
-
-
3Gain-
ANKRD6-
-
-
-
3Gain-
ANKRD60p.E175K
Missense
SNP
0.520
5Amp-
ANKRD61-
-
-
-
3Gain-
ANKRD63-
-
-
-
3Gain-
ANKRD65-
-
-
-
3Gain-
ANKRD66-
-
-
-
3Gain-
ANKRD7-
-
-
-
3Gain-
ANKRD9-
-
-
-
1Loss-
ANKS1A-
-
-
-
3Gain-
ANLN-
-
-
-
3Gain-
ANO1p.G356E
Missense
SNP
0.282
3Gain-
ANO2-
-
-
-
3Gain-
ANO3p.S36F
Missense
SNP
0.418
2--
ANP32A-
-
-
-
3Gain-
ANP32E-
-
-
-
3Gain-
ANPEP-
-
-
-
3Gain-
ANXA10p.G9E
Missense
SNP
1.000
2--
ANXA2-
-
-
-
3Gain-
ANXA6-
-
-
-
3Gain-
ANXA9-
-
-
-
3Gain-
AOAHp.W274*
Nonsense
SNP
0.522
3Gain-
AOC1p.E611K
Missense
SNP
0.456
3Gain-
AOC2-
-
-
-
3Gain-
AOC3-
-
-
-
3Gain-
AP000350.4-
-
-
-
3Gain-
AP000646.1-
-
-
-
1Loss-
AP000721.1-
-
-
-
3Gain-
AP000781.2-
-
-
-
3Gain-
AP000812.4-
-
-
-
3Gain-
AP000812.5-
-
-
-
3Gain-
AP000944.2-
-
-
-
3Gain-
AP001267.5-
-
-
-
1Loss-
AP001273.2-
-
-
-
3Gain-
AP001458.2-
-
-
-
3Gain-
AP001781.2-
-
-
-
1Loss-
AP001931.1-
-
-
-
3Gain-
AP002373.1-
-
-
-
1Loss-
AP002495.1-
-
-
-
3Gain-
AP002512.3-
-
-
-
3Gain-
AP002748.4-
-
-
-
3Gain-
AP002884.3-
-
-
-
1Loss-
AP002990.1-
-
-
-
3Gain-
AP003108.2-
-
-
-
3Gain-
AP003419.1-
-
-
-
3Gain-
AP1B1-
-
-
-
3Gain-
AP1G2-
-
-
-
1Loss-
AP1S1-
-
-
-
3Gain-
AP3B1-
-
-
-
3Gain-
AP3B2-
-
-
-
3Gain-
AP3D1-
-
-
-
1Loss-
AP3S1-
-
-
-
3Gain-
AP3S2-
-
-
-
3Gain-
AP4B1-
-
-
-
3Gain-
AP4E1-
-
-
-
3Gain-
AP4M1-
-
-
-
3Gain-
AP5B1-
-
-
-
3Gain-
AP5Z1-
-
-
-
3Gain-
APBA2-
-
-
-
3Gain-
APBA3-
-
-
-
1Loss-
APBB3-
-
-
-
3Gain-
APC-
-
-
-
3Gain-
APC2-
-
-
-
1Loss-
APCDD1L-
-
-
-
5Amp-
APCS-
-
-
-
3Gain-
APH1A-
-
-
-
3Gain-
APH1B-
-
-
-
3Gain-
APLNR-
-
-
-
3Gain-
APLP2-
-
-
-
1Loss-
APOA1-
-
-
-
1Loss-
APOA2-
-
-
-
3Gain-
APOA4p.E207K
Missense
SNP
1.000
1Loss-
APOA5-
-
-
-
1Loss-
APOBEC1-
-
-
-
3Gain-
APOBEC2-
-
-
-
3Gain-
APOBEC3A-
-
-
-
3Gain-
APOBEC3B-
-
-
-
3Gain-
APOBEC3C-
-
-
-
3Gain-
APOBEC3D-
-
-
-
3Gain-
APOBEC3F-
-
-
-
3Gain-
APOBEC3G-
-
-
-
3Gain-
APOBEC3Hp.E70K
Missense
SNP
1.000
3Gain-
APOBEC4-
-
-
-
3Gain-
APOBRp.E934K
Missense
SNP
0.455
2--
APOC3-
-
-
-
1Loss-
APOH-
-
-
-
3Gain-
APOL1-
-
-
-
3Gain-
APOL2-
-
-
-
3Gain-
APOL3-
-
-
-
3Gain-
APOL4-
-
-
-
3Gain-
APOL5-
-
-
-
3Gain-
APOL6-
-
-
-
3Gain-
APOLD1-
-
-
-
3Gain-
APOPT1-
-
-
-
1Loss-
APPBP2-
-
-
-
3Gain-
APPL2-
-
-
-
1Loss-
AQP1-
-
-
-
3Gain-
AQP10-
-
-
-
3Gain-
AQP11-
-
-
-
3Gain-
AQP9-
-
-
-
3Gain-
AQR-
-
-
-
3Gain-
ARAP1-
-
-
-
3Gain-
ARAP3-
-
-
-
3Gain-
ARCN1-
-
-
-
1Loss-
ARF1-
-
-
-
3Gain-
ARF5-
-
-
-
3Gain-
ARFGAP1-
-
-
-
5Amp-
ARFGAP3-
-
-
-
3Gain-
ARFGEF1-
-
-
-
3Gain-
ARFGEF2-
-
-
-
5Amp-
ARFRP1-
-
-
-
5Amp-
ARHGAP11A-
-
-
-
3Gain-
ARHGAP11B-
-
-
-
1Loss-
ARHGAP12p.P257S
Missense
SNP
0.383
2--
ARHGAP20-
-
-
-
1Loss-
ARHGAP21p.P1231S
Missense
SNP
0.450
2--
ARHGAP23-
-
-
-
3Gain-
ARHGAP26-
-
-
-
3Gain-
ARHGAP27-
-
-
-
3Gain-
ARHGAP29-
-
-
-
3Gain-
ARHGAP30-
-
-
-
3Gain-
ARHGAP32-
-
-
-
1Loss-
ARHGAP33p.R282S
Missense
SNP
0.469
2--
ARHGAP40-
-
-
-
5Amp-
ARHGAP42-
-
-
-
1Loss-
ARHGAP45-
-
-
-
1Loss-
ARHGAP8-
-
-
-
3Gain-
ARHGDIA-
-
-
-
3Gain-
ARHGDIB-
-
-
-
3Gain-
ARHGEF10L-
-
-
-
3Gain-
ARHGEF11p.P247L
Missense
SNP
0.290
3Gain-
ARHGEF12-
-
-
-
1Loss-
ARHGEF16-
-
-
-
3Gain-
ARHGEF17-
-
-
-
3Gain-
ARHGEF19-
-
-
-
3Gain-
ARHGEF2-
-
-
-
3Gain-
ARHGEF28p.P424S
Missense
SNP
0.602
3Gain-
ARHGEF37-
-
-
-
3Gain-
ARHGEF4-
-
-
-
1Loss-
ARHGEF5-
-
-
-
3Gain-
ARHGEF6p.G494V
Missense
SNP
0.482
NDND-
ARID1A-
-
-
-
3Gain-
ARID3A-
-
-
-
1Loss-
ARID3B-
-
-
-
3Gain-
ARID4B-
-
-
-
3Gain-
ARID5A-
-
-
-
1Loss-
ARIH1-
-
-
-
3Gain-
ARL1-
-
-
-
3Gain-
ARL10-
-
-
-
3Gain-
ARL14EPL-
-
-
-
3Gain-
ARL15-
-
-
-
3Gain-
ARL16-
-
-
-
3Gain-
ARL17A-
-
-
-
1Loss-
ARL17B-
-
-
-
1Loss-
ARL2-
-
-
-
3Gain-
ARL2-SNX15-
-
-
-
3Gain-
ARL4A-
-
-
-
3Gain-
ARL4D-
-
-
-
3Gain-
ARL5C-
-
-
-
3Gain-
ARL6IP4-
-
-
-
3Gain-
ARL8A-
-
-
-
3Gain-
ARL8B-
-
-
-
1Loss-
ARMC1-
-
-
-
3Gain-
ARMC10-
-
-
-
3Gain-
ARMC12-
-
-
-
3Gain-
ARMC3p.G680R
Missense
SNP
0.469
2--
ARMC7-
-
-
-
3Gain-
ARMH1-
-
-
-
3Gain-
ARMH2-
-
-
-
3Gain-
ARNT-
-
-
-
3Gain-
ARNT2-
-
-
-
3Gain-
ARNTLp.R166*
Nonsense
SNP
0.497
2--
ARNTL2-
-
-
-
3Gain-
ARPC1A-
-
-
-
3Gain-
ARPC1B-
-
-
-
3Gain-
ARPC3-
-
-
-
3Gain-
ARPC4-
-
-
-
1Loss-
ARPC4-TTLL3-
-
-
-
1Loss-
ARPC5-
-
-
-
3Gain-
ARPIN-
-
-
-
3Gain-
ARPP19-
-
-
-
3Gain-
ARRB1-
-
-
-
3Gain-
ARRDC3-
-
-
-
3Gain-
ARRDC4-
-
-
-
3Gain-
ARRDC5-
-
-
-
1Loss-
ARSA-
-
-
-
3Gain-
ARSB-
-
-
-
3Gain-
ARSG-
-
-
-
3Gain-
ARSI-
-
-
-
3Gain-
ARSK-
-
-
-
3Gain-
ART4-
-
-
-
3Gain-
ARTN-
-
-
-
3Gain-
ARV1-
-
-
-
3Gain-
ARVCF-
-
-
-
3Gain-
ASAP3-
-
-
-
3Gain-
ASB10-
-
-
-
3Gain-
ASB15-
-
-
-
3Gain-
ASB16-
-
-
-
3Gain-
ASB17-
-
-
-
3Gain-
ASB4-
-
-
-
3Gain-
ASB7-
-
-
-
3Gain-
ASCC2-
-
-
-
3Gain-
ASCL1-
-
-
-
3Gain-
ASH1L-
-
-
-
3Gain-
ASIC3-
-
-
-
3Gain-
ASIP-
-
-
-
5Amp-
ASL-
-
-
-
3Gain-
ASNS-
-
-
-
3Gain-
ASPG-
-
-
-
1Loss-
ASPH-
-
-
-
3Gain-
ASPHD2-
-
-
-
3Gain-
ASPM-
-
-
-
3Gain-
ASPSCR1-
-
-
-
3Gain-
ASRGL1-
-
-
-
3Gain-
ASTL-
-
-
-
1Loss-
ASTN1p.E717K
Missense
SNP
0.673
3Gain-
ASXL1-
-
-
-
5Amp-
ASZ1p.R7Q
Missense
SNP
0.495
3Gain-
ATAD3A-
-
-
-
3Gain-
ATAD3B-
-
-
-
3Gain-
ATAD3C-
-
-
-
3Gain-
ATCAY-
-
-
-
1Loss-
ATF3-
-
-
-
3Gain-
ATF4-
-
-
-
3Gain-
ATF6p.Q172*
Nonsense
SNP
0.587
3Gain-
ATF6B-
-
-
-
3Gain-
ATF7IP-
-
-
-
3Gain-
ATG10-
-
-
-
3Gain-
ATG12-
-
-
-
3Gain-
ATG16L2-
-
-
-
3Gain-
ATG2A-
-
-
-
3Gain-
ATG2Bp.S983F
Missense
SNP
1.000
2--
ATG4C-
-
-
-
3Gain-
ATG7-
-
-
-
1Loss-
ATG9B-
-
-
-
3Gain-
ATL3-
-
-
-
3Gain-
ATM-
-
-
-
1Loss-
ATN1-
-
-
-
3Gain-
ATOX1-
-
-
-
3Gain-
ATP10A-
-
-
-
3Gain-
ATP10B-
-
-
-
3Gain-
ATP13A2-
-
-
-
3Gain-
ATP1A1-
-
-
-
3Gain-
ATP1A2-
-
-
-
3Gain-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP2A2-
-
-
-
3Gain-
ATP2B2-
-
-
-
1Loss-
ATP2B4-
-
-
-
3Gain-
ATP4Ap.D54N
Missense
SNP
0.627
2--
ATP5F1D-
-
-
-
1Loss-
ATP5F1E-
-
-
-
5Amp-
ATP5IF1-
-
-
-
3Gain-
ATP5MC1-
-
-
-
3Gain-
ATP5MF-
-
-
-
3Gain-
ATP5MF-PTCD1-
-
-
-
3Gain-
ATP5MG-
-
-
-
1Loss-
ATP5MGL-
-
-
-
3Gain-
ATP5MPL-
-
-
-
1Loss-
ATP5PB-
-
-
-
3Gain-
ATP5PD-
-
-
-
3Gain-
ATP6AP1L-
-
-
-
3Gain-
ATP6V0A1-
-
-
-
3Gain-
ATP6V0A4-
-
-
-
3Gain-
ATP6V0B-
-
-
-
3Gain-
ATP6V0D2-
-
-
-
3Gain-
ATP6V0E1-
-
-
-
3Gain-
ATP6V0E2-
-
-
-
3Gain-
ATP6V1C1-
-
-
-
3Gain-
ATP6V1E1-
-
-
-
3Gain-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP6V1G3-
-
-
-
3Gain-
ATP8B2-
-
-
-
3Gain-
ATP8B3-
-
-
-
1Loss-
ATP8B4-
-
-
-
3Gain-
ATP9A-
-
-
-
5Amp-
ATPAF1-
-
-
-
3Gain-
ATXN1-
-
-
-
3Gain-
ATXN10p.R133C
Missense
SNP
1.000
3Gain-
ATXN2-
-
-
-
3Gain-
ATXN7L1p.P400S
Missense
SNP
0.475
3Gain-
ATXN7L2-
-
-
-
3Gain-
ATXN7L3-
-
-
-
3Gain-
AUNIP-
-
-
-
3Gain-
AURKA-
-
-
-
5Amp-
AURKAIP1-
-
-
-
3Gain-
AURKC-
-
-
-
1Loss-
AUTS2-
-
-
-
3Gain-
AVEN-
-
-
-
3Gain-
AVL9-
-
-
-
3Gain-
AVPR1B-
-
-
-
3Gain-
AXDND1-
-
-
-
3Gain-
AXIN2-
-
-
-
3Gain-
AZGP1-
-
-
-
3Gain-
AZI2-
-
-
-
1Loss-
AZIN1-
-
-
-
3Gain-
AZIN2-
-
-
-
3Gain-
AZU1-
-
-
-
1Loss-
B2M-
-
-
-
3Gain-
B3GALNT2-
-
-
-
3Gain-
B3GALT2-
-
-
-
3Gain-
B3GALT4-
-
-
-
3Gain-
B3GALT6-
-
-
-
3Gain-
B3GAT1-
-
-
-
1Loss-
B3GAT2-
-
-
-
3Gain-
B3GAT3-
-
-
-
3Gain-
B3GNT2-
-
-
-
3Gain-
B3GNT4-
-
-
-
3Gain-
B3GNT6-
-
-
-
3Gain-
B3GNT9p.A282T
Missense
SNP
0.400
2--
B3GNTL1-
-
-
-
3Gain-
B4GALNT2-
-
-
-
3Gain-
B4GALNT3-
-
-
-
3Gain-
B4GALT2-
-
-
-
3Gain-
B4GALT3-
-
-
-
3Gain-
B4GALT5-
-
-
-
5Amp-
B4GALT7-
-
-
-
3Gain-
B4GAT1-
-
-
-
3Gain-
BAALC-
-
-
-
3Gain-
BACE1-
-
-
-
1Loss-
BACH2-
-
-
-
3Gain-
BAD-
-
-
-
3Gain-
BAG2-
-
-
-
3Gain-
BAG5-
-
-
-
1Loss-
BAHCC1-
-
-
-
3Gain-
BAHD1-
-
-
-
3Gain-
BAIAP2-
-
-
-
3Gain-
BAIAP2L1-
-
-
-
3Gain-
BAIAP2L2-
-
-
-
3Gain-
BAK1-
-
-
-
3Gain-
BANF1-
-
-
-
3Gain-
BARHL2-
-
-
-
3Gain-
BARX2-
-
-
-
1Loss-
BATF2-
-
-
-
3Gain-
BATF3-
-
-
-
3Gain-
BAZ1B-
-
-
-
3Gain-
BBS1-
-
-
-
3Gain-
BBS4-
-
-
-
3Gain-
BBS9-
-
-
-
3Gain-
BCAN-
-
-
-
3Gain-
BCAP29-
-
-
-
3Gain-
BCAR3-
-
-
-
3Gain-
BCAS1-
-
-
-
5Amp-
BCAS2-
-
-
-
3Gain-
BCAS3-
-
-
-
3Gain-
BCAS4-
-
-
-
5Amp-
BCAT1-
-
-
-
3Gain-
BCKDHB-
-
-
-
3Gain-
BCL10-
-
-
-
3Gain-
BCL11B-
-
-
-
1Loss-
BCL2A1-
-
-
-
3Gain-
BCL2L1-
-
-
-
5Amp-
BCL2L10-
-
-
-
3Gain-
BCL2L11-
-
-
-
1Loss-
BCL2L13-
-
-
-
3Gain-
BCL2L14-
-
-
-
3Gain-
BCL2L15-
-
-
-
3Gain-
BCL2L2-
-
-
-
1Loss-
BCL2L2-PABPN1-
-
-
-
1Loss-
BCL7A-
-
-
-
3Gain-
BCL7B-
-
-
-
3Gain-
BCL9-
-
-
-
3Gain-
BCL9L-
-
-
-
1Loss-
BCO2-
-
-
-
1Loss-
BCR-
-
-
-
3Gain-
BDP1-
-
-
-
3Gain-
BECN1-
-
-
-
3Gain-
BEGAIN-
-
-
-
1Loss-
BEND5-
-
-
-
3Gain-
BEND6-
-
-
-
3Gain-
BEST1-
-
-
-
3Gain-
BEST4-
-
-
-
3Gain-
BET1-
-
-
-
3Gain-
BGLAP-
-
-
-
3Gain-
BHLHA15-
-
-
-
3Gain-
BHLHE22-
-
-
-
3Gain-
BHLHE23-
-
-
-
5Amp-
BHLHE40-
-
-
-
1Loss-
BHLHE41-
-
-
-
3Gain-
BHMT-
-
-
-
3Gain-
BHMT2-
-
-
-
3Gain-
BICD1-
-
-
-
3Gain-
BICDL1-
-
-
-
3Gain-
BICRAL-
-
-
-
3Gain-
BID-
-
-
-
3Gain-
BIK-
-
-
-
3Gain-
BIN1-
-
-
-
1Loss-
BIRC2-
-
-
-
1Loss-
BIRC3-
-
-
-
1Loss-
BIRC5-
-
-
-
3Gain-
BIRC7-
-
-
-
5Amp-
BIRC8-
-
-
-
1Loss-
BLCAP-
-
-
-
5Amp-
BLID-
-
-
-
1Loss-
BLM-
-
-
-
3Gain-
BLOC1S6-
-
-
-
3Gain-
BLVRA-
-
-
-
3Gain-
BLZF1-
-
-
-
3Gain-
BMF-
-
-
-
3Gain-
BMP5-
-
-
-
3Gain-
BMP7-
-
-
-
5Amp-
BMP8A-
-
-
-
3Gain-
BMP8B-
-
-
-
3Gain-
BMPER-
-
-
-
3Gain-
BMT2-
-
-
-
3Gain-
BNC1-
-
-
-
3Gain-
BNIP1-
-
-
-
3Gain-
BNIP2-
-
-
-
3Gain-
BNIPL-
-
-
-
3Gain-
BOD1-
-
-
-
3Gain-
BOLA1-
-
-
-
3Gain-
BORCS5-
-
-
-
3Gain-
BPGM-
-
-
-
3Gain-
BPIp.P66L
Missense
SNP
0.599
5Amp-
BPIFA1-
-
-
-
5Amp-
BPIFA2-
-
-
-
5Amp-
BPIFA3-
-
-
-
5Amp-
BPIFB1-
-
-
-
5Amp-
BPIFB2-
-
-
-
5Amp-
BPIFB3-
-
-
-
5Amp-
BPIFB4-
-
-
-
5Amp-
BPIFB6-
-
-
-
5Amp-
BPIFC-
-
-
-
3Gain-
BPNT1-
-
-
-
3Gain-
BPTF-
-
-
-
3Gain-
BRAF-
-
-
-
3Gain-
BRAP-
-
-
-
3Gain-
BRAT1-
-
-
-
3Gain-
BRCA1-
-
-
-
3Gain-
BRD1-
-
-
-
3Gain-
BRD2-
-
-
-
3Gain-
BRD8-
-
-
-
3Gain-
BRDT-
-
-
-
3Gain-
BRI3-
-
-
-
3Gain-
BRINP2p.S48F
Missense
SNP
0.259
3Gain-
BRINP3-
-
-
-
3Gain-
BRIP1-
-
-
-
3Gain-
BRK1-
-
-
-
1Loss-
BRMS1-
-
-
-
3Gain-
BROX-
-
-
-
3Gain-
BRPF1-
-
-
-
1Loss-
BRPF3-
-
-
-
3Gain-
BSCL2-
-
-
-
3Gain-
BSDC1-
-
-
-
3Gain-
BSG-
-
-
-
1Loss-
BSNp.P3836L
Missense
SNP
0.532
2--
BSND-
-
-
-
3Gain-
BSX-
-
-
-
1Loss-
BTBD1-
-
-
-
3Gain-
BTBD11-
-
-
-
1Loss-
BTBD17-
-
-
-
3Gain-
BTBD18-
-
-
-
3Gain-
BTBD19-
-
-
-
3Gain-
BTBD2-
-
-
-
1Loss-
BTBD8-
-
-
-
3Gain-
BTBD9-
-
-
-
3Gain-
BTD-
-
-
-
1Loss-
BTF3-
-
-
-
3Gain-
BTF3L4-
-
-
-
3Gain-
BTG2-
-
-
-
3Gain-
BTG4-
-
-
-
1Loss-
BTNL2-
-
-
-
3Gain-
BTNL3-
-
-
-
3Gain-
BTNL8-
-
-
-
3Gain-
BTNL9-
-
-
-
3Gain-
BUB1-
-
-
-
1Loss-
BUB1B-
-
-
-
3Gain-
BUB1B-PAK6-
-
-
-
3Gain-
BUD13-
-
-
-
1Loss-
BUD23-
-
-
-
3Gain-
BUD31-
-
-
-
3Gain-
BYSL-
-
-
-
3Gain-
BZW2-
-
-
-
3Gain-
C11orf1-
-
-
-
1Loss-
C11orf24-
-
-
-
3Gain-
C11orf45-
-
-
-
1Loss-
C11orf52-
-
-
-
1Loss-
C11orf53-
-
-
-
1Loss-
C11orf54-
-
-
-
3Gain-
C11orf65-
-
-
-
1Loss-
C11orf68-
-
-
-
3Gain-
C11orf71-
-
-
-
1Loss-
C11orf80-
-
-
-
3Gain-
C11orf86-
-
-
-
3Gain-
C11orf87-
-
-
-
1Loss-
C11orf88-
-
-
-
1Loss-
C11orf95-
-
-
-
3Gain-
C11orf97-
-
-
-
3Gain-
C11orf98-
-
-
-
3Gain-
C12orf4-
-
-
-
3Gain-
C12orf42-
-
-
-
3Gain-
C12orf43-
-
-
-
3Gain-
C12orf45-
-
-
-
1Loss-
C12orf49-
-
-
-
3Gain-
C12orf57-
-
-
-
3Gain-
C12orf60-
-
-
-
3Gain-
C12orf65-
-
-
-
3Gain-
C12orf71-
-
-
-
3Gain-
C12orf73-
-
-
-
3Gain-
C12orf75-
-
-
-
1Loss-
C12orf76p.P79S
Missense
SNP
1.000
1Loss-
C14orf119-
-
-
-
1Loss-
C14orf177-
-
-
-
1Loss-
C14orf180-
-
-
-
1Loss-
C15orf38-AP3S2-
-
-
-
3Gain-
C15orf39p.P460R
Missense
SNP
0.659
3Gain-
C15orf40-
-
-
-
3Gain-
C15orf41-
-
-
-
3Gain-
C15orf48-
-
-
-
3Gain-
C15orf53p.G102E
Missense
SNP
0.684
3Gain-
C15orf61-
-
-
-
3Gain-
C15orf62-
-
-
-
3Gain-
C15orf65-
-
-
-
3Gain-
C16orf70p.Q33*
Nonsense
SNP
0.559
2--
C17orf47-
-
-
-
3Gain-
C17orf53-
-
-
-
3Gain-
C17orf58-
-
-
-
3Gain-
C17orf64-
-
-
-
3Gain-
C17orf67-
-
-
-
3Gain-
C17orf74p.R122H
Missense
SNP
1.000
NDND-
C17orf78-
-
-
-
3Gain-
C17orf80-
-
-
-
3Gain-
C17orf98-
-
-
-
3Gain-
C17orf99-
-
-
-
3Gain-
C19orf18-
-
-
-
1Loss-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C19orf84-
-
-
-
1Loss-
C1GALT1-
-
-
-
3Gain-
C1orf100-
-
-
-
3Gain-
C1orf105-
-
-
-
3Gain-
C1orf109-
-
-
-
3Gain-
C1orf112-
-
-
-
3Gain-
C1orf115-
-
-
-
3Gain-
C1orf116-
-
-
-
3Gain-
C1orf122-
-
-
-
3Gain-
C1orf123-
-
-
-
3Gain-
C1orf127-
-
-
-
3Gain-
C1orf131-
-
-
-
3Gain-
C1orf141-
-
-
-
3Gain-
C1orf146-
-
-
-
3Gain-
C1orf158-
-
-
-
3Gain-
C1orf159-
-
-
-
3Gain-
C1orf162-
-
-
-
3Gain-
C1orf167-
-
-
-
3Gain-
C1orf174-
-
-
-
3Gain-
C1orf185-
-
-
-
3Gain-
C1orf189-
-
-
-
3Gain-
C1orf194-
-
-
-
3Gain-
C1orf198-
-
-
-
3Gain-
C1orf21-
-
-
-
3Gain-
C1orf210-
-
-
-
3Gain-
C1orf216-
-
-
-
3Gain-
C1orf226-
-
-
-
3Gain-
C1orf35-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf50-
-
-
-
3Gain-
C1orf52-
-
-
-
3Gain-
C1orf53-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1orf74-
-
-
-
3Gain-
C1orf87-
-
-
-
3Gain-
C1orf94-
-
-
-
3Gain-
C1QA-
-
-
-
3Gain-
C1QB-
-
-
-
3Gain-
C1QC-
-
-
-
3Gain-
C1QL1-
-
-
-
3Gain-
C1QL2-
-
-
-
1Loss-
C1QTNF1-
-
-
-
3Gain-
C1QTNF12-
-
-
-
3Gain-
C1QTNF2-
-
-
-
3Gain-
C1QTNF5-
-
-
-
1Loss-
C1QTNF6-
-
-
-
3Gain-
C1R-
-
-
-
3Gain-
C1RL-
-
-
-
3Gain-
C1Sp.D445N
Missense
SNP
0.608
3Gain-
C20orf144-
-
-
-
5Amp-
C20orf173-
-
-
-
5Amp-
C20orf203-
-
-
-
5Amp-
C20orf204-
-
-
-
5Amp-
C20orf85p.E50K
Missense
SNP
0.607
5Amp-
C22orf15-
-
-
-
3Gain-
C22orf23-
-
-
-
3Gain-
C22orf31-
-
-
-
3Gain-
C22orf39-
-
-
-
3GainRRBP1--C22orf39
C22orf42-
-
-
-
3Gain-
C22orf46-
-
-
-
3Gain-
C2CD2L-
-
-
-
1Loss-
C2CD3-
-
-
-
3Gain-
C2CD4A-
-
-
-
3Gain-
C2CD4B-
-
-
-
3Gain-
C2CD4C-
-
-
-
1Loss-
C2CD4D-
-
-
-
3Gain-
C2CD5-
-
-
-
3Gain-
C2orf15-
-
-
-
1Loss-
C2orf40-
-
-
-
1Loss-
C2orf49-
-
-
-
1Loss-
C2orf76-
-
-
-
1Loss-
C3p.D1362N
Missense
SNP
0.414
2--
C3AR1-
-
-
-
3Gain-
C3orf20-
-
-
-
1Loss-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C4BPA-
-
-
-
3Gain-
C4BPB-
-
-
-
3Gain-
C5orf15-
-
-
-
3Gain-
C5orf24-
-
-
-
3Gain-
C5orf30-
-
-
-
3Gain-
C5orf46-
-
-
-
3Gain-
C5orf47-
-
-
-
3Gain-
C5orf52-
-
-
-
3Gain-
C5orf58-
-
-
-
3Gain-
C5orf60-
-
-
-
3Gain-
C5orf63-
-
-
-
3Gain-
C5orf67-
-
-
-
3Gain-
C6orf10-
-
-
-
3Gain-
C6orf106-
-
-
-
3Gain-
C6orf132-
-
-
-
3Gain-
C6orf141-
-
-
-
3Gain-
C6orf163-
-
-
-
3Gain-
C6orf203p.P84S
Missense
SNP
0.439
2--
C6orf222-
-
-
-
3Gain-
C6orf223-
-
-
-
3Gain-
C6orf226-
-
-
-
3Gain-
C6orf52-
-
-
-
3Gain-
C6orf62-
-
-
-
3Gain-
C6orf89-
-
-
-
3Gain-
C7orf25-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf33-
-
-
-
3Gain-
C7orf43-
-
-
-
3Gain-
C7orf50-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
3Gain-
C7orf57-
-
-
-
3Gain-
C7orf61-
-
-
-
3Gain-
C7orf77-
-
-
-
3Gain-
C8Ap.G396E
Missense
SNP
0.406
3Gain-
C8B-
-
-
-
3Gain-
C8orf33-
-
-
-
3Gain-
C8orf34-
-
-
-
3Gain-
C8orf37-
-
-
-
3Gain-
C8orf44-
-
-
-
3Gain-
C8orf59-
-
-
-
3Gain-
C8orf88-
-
-
-
3Gain-
C8orf89-
-
-
-
3Gain-
CA1-
-
-
-
3Gain-
CA10p.G41E
Missense
SNP
0.655
3Gain-
CA12-
-
-
-
3Gain-
CA13-
-
-
-
3Gain-
CA14-
-
-
-
3Gain-
CA2-
-
-
-
3Gain-
CA3-
-
-
-
3Gain-
CA4-
-
-
-
3Gain-
CA6-
-
-
-
3Gain-
CA8p.R251*
Nonsense
SNP
0.629
3Gain-
CABIN1-
-
-
-
3Gain-
CABLES2-
-
-
-
5Amp-
CABP1-
-
-
-
3Gain-
CABP2-
-
-
-
3Gain-
CABP4-
-
-
-
3Gain-
CABP7-
-
-
-
3Gain-
CACHD1-
-
-
-
3Gain-
CACNA1Bp.R189Q
Missense
SNP
0.462
2--
CACNA1C-
-
-
-
3Gain-
CACNA1E-
-
-
-
3Gain-
CACNA1G-
-
-
-
3Gain-
CACNA1Hp.P500L
p.W774*
Missense
Nonsense
SNP
SNP
0.506
0.584
2--
CACNA1I-
-
-
-
3Gain-
CACNA1S-
-
-
-
3Gain-
CACNA2D1-
-
-
-
3Gain-
CACNA2D3p.E429K
Missense
SNP
0.488
2--
CACNA2D4-
-
-
-
3Gain-
CACNB1-
-
-
-
3Gain-
CACNB2p.D238N
Missense
SNP
0.507
2--
CACNG1-
-
-
-
3Gain-
CACNG2-
-
-
-
3Gain-
CACNG4-
-
-
-
3Gain-
CACNG5-
-
-
-
3Gain-
CACTIN-
-
-
-
1Loss-
CACYBP-
-
-
-
3Gain-
CADM1-
-
-
-
1Loss-
CADM3-
-
-
-
3Gain-
CADM4-
-
-
-
1Loss-
CADPS2p.D471N
Missense
SNP
0.509
3Gain-
CALB1-
-
-
-
3Gain-
CALB2p.E131K
Missense
SNP
0.481
2--
CALCOCO2-
-
-
-
3Gain-
CALCR-
-
-
-
3Gain-
CALD1-
-
-
-
3Gain-
CALML4-
-
-
-
3Gain-
CALML6-
-
-
-
3Gain-
CALN1-
-
-
-
3Gain-
CALU-
-
-
-
3Gain-
CAMK1-
-
-
-
1Loss-
CAMK1G-
-
-
-
3Gain-
CAMK2A-
-
-
-
3Gain-
CAMK2B-
-
-
-
3Gain-
CAMK2N1-
-
-
-
3Gain-
CAMK4-
-
-
-
3Gain-
CAMKK2-
-
-
-
3Gain-
CAMLG-
-
-
-
3Gain-
CAMSAP2-
-
-
-
3Gain-
CAMTA1-
-
-
-
3Gain-
CAND2-
-
-
-
1Loss-
CANT1-
-
-
-
3Gain-
CANX-
-
-
-
3Gain-
CAP1-
-
-
-
3Gain-
CAP2-
-
-
-
3Gain-
CAPN1-
-
-
-
3Gain-
CAPN11-
-
-
-
3Gain-
CAPN12p.S587F
Missense
SNP
0.520
2--
CAPN2-
-
-
-
3Gain-
CAPN3-
-
-
-
3Gain-
CAPN5-
-
-
-
3Gain-
CAPN7-
-
-
-
1Loss-
CAPN8-
-
-
-
3Gain-
CAPN9-
-
-
-
3Gain-
CAPRIN2-
-
-
-
3Gain-
CAPZA1-
-
-
-
3Gain-
CAPZA2-
-
-
-
3Gain-
CAPZA3-
-
-
-
3Gain-
CAPZB-
-
-
-
3Gain-
CARD10-
-
-
-
3Gain-
CARD11-
-
-
-
3Gain-
CARD14-
-
-
-
3Gain-
CARD16-
-
-
-
1Loss-
CARD17-
-
-
-
1Loss-
CARD18-
-
-
-
1Loss-
CARMIL1-
-
-
-
3Gain-
CARMIL3-
-
-
-
1Loss-
CARNS1-
-
-
-
3Gain-
CARTPT-
-
-
-
3Gain-
CASC1-
-
-
-
3Gain-
CASC3-
-
-
-
3Gain-
CASC4-
-
-
-
3Gain-
CASD1-
-
-
-
3Gain-
CASKIN2-
-
-
-
3Gain-
CASP1-
-
-
-
1Loss-
CASP12-
-
-
-
1Loss-
CASP2-
-
-
-
3Gain-
CASP4-
-
-
-
1Loss-
CASP5-
-
-
-
1Loss-
CASP8AP2-
-
-
-
3Gain-
CASP9-
-
-
-
3Gain-
CASQ1-
-
-
-
3Gain-
CASQ2-
-
-
-
3Gain-
CASRp.E379K
p.G917E
Missense
Missense
SNP
SNP
0.595
0.465
2--
CASS4-
-
-
-
5Amp-
CAST-
-
-
-
3Gain-
CASTOR1-
-
-
-
3Gain-
CASTOR2-
-
-
-
3Gain-
CASTOR3-
-
-
-
3Gain-
CASZ1-
-
-
-
3Gain-
CATSPER1-
-
-
-
3Gain-
CATSPER2-
-
-
-
3Gain-
CATSPER3-
-
-
-
3Gain-
CATSPER4-
-
-
-
3Gain-
CATSPERE-
-
-
-
3Gain-
CATSPERZ-
-
-
-
3Gain-
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CAV3-
-
-
-
1Loss-
CAVIN1-
-
-
-
3Gain-
CBARP-
-
-
-
1Loss-
CBFA2T2-
-
-
-
5Amp-
CBL-
-
-
-
1Loss-
CBLL1-
-
-
-
3Gain-
CBLN4-
-
-
-
5Amp-
CBWD2-
-
-
-
1Loss-
CBX1-
-
-
-
3Gain-
CBX2-
-
-
-
3Gain-
CBX3-
-
-
-
3Gain-
CBX4-
-
-
-
3Gain-
CBX6-
-
-
-
3Gain-
CBX7-
-
-
-
3Gain-
CBX8-
-
-
-
3Gain-
CBY1-
-
-
-
3Gain-
CBY3-
-
-
-
3Gain-
CC2D1B-
-
-
-
3Gain-
CCDC103-
-
-
-
3Gain-
CCDC112-
-
-
-
3Gain-
CCDC115-
-
-
-
1Loss-
CCDC116-
-
-
-
3Gain-
CCDC117-
-
-
-
3Gain-
CCDC125-
-
-
-
3Gain-
CCDC126-
-
-
-
3Gain-
CCDC134-
-
-
-
3Gain-
CCDC136-
-
-
-
3Gain-
CCDC137-
-
-
-
3Gain-
CCDC138-
-
-
-
1Loss-
CCDC146-
-
-
-
3Gain-
CCDC15-
-
-
-
1Loss-
CCDC153-
-
-
-
1Loss-
CCDC157-
-
-
-
3Gain-
CCDC158p.R35C
Missense
SNP
0.988
2--
CCDC163-
-
-
-
3Gain-
CCDC167-
-
-
-
3Gain-
CCDC17-
-
-
-
3Gain-
CCDC174-
-
-
-
1Loss-
CCDC18-
-
-
-
3Gain-
CCDC181-
-
-
-
3Gain-
CCDC182-
-
-
-
3Gain-
CCDC185-
-
-
-
3Gain-
CCDC188-
-
-
-
3Gain-
CCDC190-
-
-
-
3Gain-
CCDC24-
-
-
-
3Gain-
CCDC27-
-
-
-
3Gain-
CCDC28Ap.R7K
Missense
SNP
0.531
2--
CCDC28B-
-
-
-
3Gain-
CCDC30-
-
-
-
3Gain-
CCDC32-
-
-
-
3Gain-
CCDC33-
-
-
-
3Gain-
CCDC40-
-
-
-
3Gain-
CCDC43-
-
-
-
3Gain-
CCDC47-
-
-
-
3Gain-
CCDC57-
-
-
-
3Gain-
CCDC60-
-
-
-
3Gain-
CCDC62-
-
-
-
3Gain-
CCDC63-
-
-
-
3Gain-
CCDC69-
-
-
-
3Gain-
CCDC71L-
-
-
-
3Gain-
CCDC74A-
-
-
-
1Loss-
CCDC74B-
-
-
-
1Loss-
CCDC77-
-
-
-
3Gain-
CCDC81-
-
-
-
3Gain-
CCDC82-
-
-
-
3Gain-
CCDC83-
-
-
-
3Gain-
CCDC84-
-
-
-
1Loss-
CCDC85B-
-
-
-
3Gain-
CCDC85C-
-
-
-
1Loss-
CCDC86-
-
-
-
3Gain-
CCDC87-
-
-
-
3Gain-
CCDC88B-
-
-
-
3Gain-
CCDC89-
-
-
-
3Gain-
CCDC90B-
-
-
-
3Gain-
CCDC91-
-
-
-
3Gain-
CCDC93-
-
-
-
1Loss-
CCDC9B-
-
-
-
3Gain-
CCKBRp.P298S
Missense
SNP
0.453
2--
CCL24-
-
-
-
3Gain-
CCL26-
-
-
-
3Gain-
CCM2-
-
-
-
3Gain-
CCM2L-
-
-
-
5Amp-
CCNB1-
-
-
-
3Gain-
CCNB2-
-
-
-
3Gain-
CCND1-
-
-
-
3Gain-
CCND2-
-
-
-
3Gain-
CCND3-
-
-
-
3Gain-
CCNDBP1-
-
-
-
3Gain-
CCNE2-
-
-
-
3Gain-
CCNG1-
-
-
-
3Gain-
CCNH-
-
-
-
3Gain-
CCNI2-
-
-
-
3Gain-
CCNJL-
-
-
-
3Gain-
CCNK-
-
-
-
1Loss-
CCNL2-
-
-
-
3Gain-
CCNO-
-
-
-
3Gain-
CCPG1-
-
-
-
3Gain-
CCR10-
-
-
-
3Gain-
CCR4-
-
-
-
1Loss-
CCR7-
-
-
-
3Gain-
CCS-
-
-
-
3Gain-
CCSAP-
-
-
-
3Gain-
CCT3-
-
-
-
3Gain-
CCT4-
-
-
-
6Amp-
CCT6A-
-
-
-
3Gain-
CCT8L2-
-
-
-
3Gain-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD101-
-
-
-
3Gain-
CD109-
-
-
-
3Gain-
CD14-
-
-
-
3Gain-
CD160-
-
-
-
3Gain-
CD163-
-
-
-
3Gain-
CD163L1p.E967K
p.G961E
p.G140R
Missense
Missense
Missense
SNP
SNP
SNP
0.274
0.271
0.330
3Gain-
CD164L2-
-
-
-
3Gain-
CD177-
-
-
-
1Loss-
CD180-
-
-
-
3Gain-
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD2-
-
-
-
3Gain-
CD244-
-
-
-
3Gain-
CD247-
-
-
-
3Gain-
CD248-
-
-
-
3Gain-
CD27-
-
-
-
3Gain-
CD276-
-
-
-
3Gain-
CD2AP-
-
-
-
3Gain-
CD300A-
-
-
-
3Gain-
CD300C-
-
-
-
3Gain-
CD300E-
-
-
-
3Gain-
CD300LB-
-
-
-
3Gain-
CD300LD-
-
-
-
3Gain-
CD300LF-
-
-
-
3Gain-
CD300LG-
-
-
-
3Gain-
CD33-
-
-
-
1Loss-
CD34-
-
-
-
3Gain-
CD36-
-
-
-
3Gain-
CD3D-
-
-
-
1Loss-
CD3E-
-
-
-
1Loss-
CD3G-
-
-
-
1Loss-
CD4-
-
-
-
3Gain-
CD40-
-
-
-
5Amp-
CD46-
-
-
-
3Gain-
CD48-
-
-
-
3Gain-
CD5-
-
-
-
3Gain-
CD52-
-
-
-
3Gain-
CD53-
-
-
-
3Gain-
CD55-
-
-
-
3Gain-
CD58-
-
-
-
3Gain-
CD5Lp.E339K
Missense
SNP
0.567
3Gain-
CD6-
-
-
-
3Gain-
CD69-
-
-
-
3Gain-
CD7-
-
-
-
3Gain-
CD70p.G94E
Missense
SNP
0.394
2--
CD74-
-
-
-
3Gain-
CD79B-
-
-
-
3Gain-
CD83-
-
-
-
3Gain-
CD84-
-
-
-
3Gain-
CD8B2-
-
-
-
1Loss-
CD9-
-
-
-
3Gain-
CDA-
-
-
-
3Gain-
CDAN1-
-
-
-
3Gain-
CDC14A-
-
-
-
3Gain-
CDC14C-
-
-
-
3Gain-
CDC20-
-
-
-
3Gain-
CDC20B-
-
-
-
3Gain-
CDC23-
-
-
-
3Gain-
CDC25C-
-
-
-
3Gain-
CDC27-
-
-
-
3Gain-
CDC34-
-
-
-
1Loss-
CDC42-
-
-
-
3Gain-
CDC42BPA-
-
-
-
3Gain-
CDC42BPB-
-
-
-
1Loss-
CDC42BPG-
-
-
-
3Gain-
CDC42EP1-
-
-
-
3Gain-
CDC42EP2-
-
-
-
3Gain-
CDC42EP4-
-
-
-
3Gain-
CDC42SE1-
-
-
-
3Gain-
CDC42SE2-
-
-
-
3Gain-
CDC45-
-
-
-
3Gain-
CDC5L-
-
-
-
3Gain-
CDC6-
-
-
-
3Gain-
CDC7-
-
-
-
3Gain-
CDC73-
-
-
-
3Gain-
CDCA3-
-
-
-
3Gain-
CDCA5-
-
-
-
3Gain-
CDCA7L-
-
-
-
3Gain-
CDCA8-
-
-
-
3Gain-
CDCP2p.G103E
Missense
SNP
0.532
3Gain-
CDH17-
-
-
-
3Gain-
CDH22-
-
-
-
5Amp-
CDH26-
-
-
-
5Amp-
CDH4-
-
-
-
5Amp-
CDH8p.P25S
Missense
SNP
0.533
3Gain-
CDH9p.P502A
Missense
SNP
0.538
3Gain-
CDHR2-
-
-
-
3Gain-
CDHR3p.R235H
Missense
SNP
0.523
3Gain-
CDK11A-
-
-
-
3Gain-
CDK11B-
-
-
-
3Gain-
CDK12-
-
-
-
3Gain-
CDK13-
-
-
-
3Gain-
CDK14-
-
-
-
3Gain-
CDK18-
-
-
-
3Gain-
CDK2AP1-
-
-
-
3Gain-
CDK2AP2-
-
-
-
3Gain-
CDK3-
-
-
-
3Gain-
CDK5-
-
-
-
3Gain-
CDK5RAP1-
-
-
-
5Amp-
CDK5RAP3-
-
-
-
3Gain-
CDK6-
-
-
-
3Gain-
CDK7-
-
-
-
3Gain-
CDKAL1-
-
-
-
3Gain-
CDKL3-
-
-
-
3Gain-
CDKN1A-
-
-
-
3Gain-
CDKN1B-
-
-
-
3Gain-
CDKN2AIPNL-
-
-
-
3Gain-
CDKN2C-
-
-
-
3Gain-
CDO1-
-
-
-
3Gain-
CDON-
-
-
-
1Loss-
CDPF1-
-
-
-
3Gain-
CDR2Lp.S48F
Missense
SNP
0.617
3Gain-
CDX1-
-
-
-
3Gain-
CEACAM18-
-
-
-
1Loss-
CEACAM20-
-
-
-
1Loss-
CEACAM5p.S599F
Missense
SNP
0.462
2--
CEACAM7p.E71K
Missense
SNP
0.500
2--
CEBPB-
-
-
-
5Amp-
CEBPE-
-
-
-
1Loss-
CECR2-
-
-
-
3Gain-
CELA2A-
-
-
-
3Gain-
CELA2B-
-
-
-
3Gain-
CELA3A-
-
-
-
3Gain-
CELA3B-
-
-
-
3Gain-
CELF3-
-
-
-
3Gain-
CELF5-
-
-
-
1Loss-
CELF6-
-
-
-
3Gain-
CELSR1-
-
-
-
3Gain-
CELSR2-
-
-
-
3Gain-
CEMIP-
-
-
-
3Gain-
CENPF-
-
-
-
3Gain-
CENPH-
-
-
-
3Gain-
CENPIp.R218C
Missense
SNP
0.507
NDND-
CENPK-
-
-
-
3Gain-
CENPL-
-
-
-
3Gain-
CENPM-
-
-
-
3Gain-
CENPQ-
-
-
-
3Gain-
CENPS-
-
-
-
3Gain-
CENPS-CORT-
-
-
-
3Gain-
CENPX-
-
-
-
3Gain-
CEP104-
-
-
-
3Gain-
CEP112-
-
-
-
3Gain-
CEP120-
-
-
-
3Gain-
CEP126-
-
-
-
1Loss-
CEP131-
-
-
-
3Gain-
CEP152-
-
-
-
3Gain-
CEP162-
-
-
-
3Gain-
CEP164-
-
-
-
1Loss-
CEP170-
-
-
-
3Gain-
CEP170B-
-
-
-
1Loss-
CEP250-
-
-
-
5Amp-
CEP295-
-
-
-
3Gain-
CEP295NL-
-
-
-
3Gain-
CEP350-
-
-
-
3Gain-
CEP41-
-
-
-
3Gain-
CEP57-
-
-
-
3Gain-
CEP70p.H228Y
Missense
SNP
0.469
2--
CEP85-
-
-
-
3Gain-
CEP95-
-
-
-
3Gain-
CEPT1-
-
-
-
3Gain-
CERK-
-
-
-
3Gain-
CERS2-
-
-
-
3Gain-
CERS3-
-
-
-
3Gain-
CES5Ap.E383K
Missense
SNP
0.546
2--
CETN3-
-
-
-
3Gain-
CFAP126-
-
-
-
3Gain-
CFAP161-
-
-
-
3Gain-
CFAP206-
-
-
-
3Gain-
CFAP221-
-
-
-
1Loss-
CFAP300-
-
-
-
1Loss-
CFAP45-
-
-
-
3Gain-
CFAP46p.E1798K
p.R149C
Missense
Missense
SNP
SNP
0.459
0.434
2--
CFAP47p.W1768*
p.E2875K
Nonsense
Missense
SNP
SNP
1.000
1.000
NDND-
CFAP57-
-
-
-
3Gain-
CFAP69-
-
-
-
3Gain-
CFAP73-
-
-
-
3Gain-
CFAP74-
-
-
-
3Gain-
CFAP97D1-
-
-
-
3Gain-
CFC1-
-
-
-
1Loss-
CFC1B-
-
-
-
1Loss-
CFD-
-
-
-
1Loss-
CFH-
-
-
-
3Gain-
CFHR1-
-
-
-
3Gain-
CFHR2-
-
-
-
3Gain-
CFHR3-
-
-
-
3Gain-
CFHR4-
-
-
-
3Gain-
CFHR5-
-
-
-
3Gain-
CFL1-
-
-
-
3Gain-
CFTR-
-
-
-
3Gain-
CGA-
-
-
-
3Gain-
CGAS-
-
-
-
3Gain-
CGN-
-
-
-
3Gain-
CGNL1-
-
-
-
3Gain-
CHAC1-
-
-
-
3Gain-
CHAD-
-
-
-
3Gain-
CHADL-
-
-
-
3Gain-
CHAF1A-
-
-
-
1Loss-
CHCHD10-
-
-
-
3Gain-
CHCHD2-
-
-
-
3Gain-
CHCHD3-
-
-
-
3Gain-
CHCHD4-
-
-
-
1Loss-
CHCHD5-
-
-
-
1Loss-
CHCHD7-
-
-
-
3Gain-
CHD1-
-
-
-
3Gain-
CHD1L-
-
-
-
3Gain-
CHD2-
-
-
-
3Gain-
CHD4-
-
-
-
3Gain-
CHD5-
-
-
-
3Gain-
CHD6-
-
-
-
5Amp-
CHD7-
-
-
-
3Gain-
CHEK1-
-
-
-
1Loss-
CHEK2-
-
-
-
3Gain-
CHI3L1-
-
-
-
3Gain-
CHI3L2-
-
-
-
3Gain-
CHIA-
-
-
-
3Gain-
CHIT1-
-
-
-
3Gain-
CHKA-
-
-
-
3Gain-
CHKB-
-
-
-
3Gain-
CHKB-CPT1B-
-
-
-
3Gain-
CHL1-
-
-
-
1Loss-
CHML-
-
-
-
3Gain-
CHMP2A-
-
-
-
1Loss-
CHMP4B-
-
-
-
5Amp-
CHMP4C-
-
-
-
3Gain-
CHMP6-
-
-
-
3Gain-
CHN2-
-
-
-
3Gain-
CHORDC1-
-
-
-
3Gain-
CHP1-
-
-
-
3Gain-
CHPF2-
-
-
-
3Gain-
CHPT1-
-
-
-
3Gain-
CHRDL2-
-
-
-
3Gain-
CHRFAM7A-
-
-
-
1Loss-
CHRM1-
-
-
-
3Gain-
CHRM2-
-
-
-
3Gain-
CHRM3-
-
-
-
3Gain-
CHRM5-
-
-
-
3Gain-
CHRNA3-
-
-
-
3Gain-
CHRNA4-
-
-
-
5Amp-
CHRNA5-
-
-
-
3Gain-
CHRNA7-
-
-
-
3Gain-
CHRNB2-
-
-
-
3Gain-
CHRNB4-
-
-
-
3Gain-
CHST10-
-
-
-
1Loss-
CHST11-
-
-
-
3Gain-
CHST12-
-
-
-
3Gain-
CHST14-
-
-
-
3Gain-
CHST15p.R46C
Missense
SNP
0.476
2--
CHSY1-
-
-
-
3Gain-
CHSY3-
-
-
-
3Gain-
CHTOP-
-
-
-
3Gain-
CIAO1-
-
-
-
1Loss-
CIAO2A-
-
-
-
3Gain-
CIART-
-
-
-
3Gain-
CIB1-
-
-
-
3Gain-
CIB2-
-
-
-
3Gain-
CICp.P36S
Missense
SNP
0.483
2--
CIDEC-
-
-
-
1Loss-
CILP-
-
-
-
3Gain-
CINP-
-
-
-
1Loss-
CIRBP-
-
-
-
1Loss-
CISD3-
-
-
-
3Gain-
CIT-
-
-
-
3Gain-
CITED4-
-
-
-
3Gain-
CKAP2L-
-
-
-
1Loss-
CKAP4-
-
-
-
1Loss-
CKB-
-
-
-
1Loss-
CKMT1A-
-
-
-
3Gain-
CKMT1B-
-
-
-
3Gain-
CKMT2p.R378Q
Missense
SNP
0.725
3Gain-
CKS1B-
-
-
-
3Gain-
CLASP1-
-
-
-
1Loss-
CLASP2-
-
-
-
1Loss-
CLCA1-
-
-
-
3Gain-
CLCA2-
-
-
-
3Gain-
CLCA4-
-
-
-
3Gain-
CLCC1-
-
-
-
3Gain-
CLCF1-
-
-
-
3Gain-
CLCN1p.M194I
Missense
SNP
0.438
3Gain-
CLCN6-
-
-
-
3Gain-
CLCNKA-
-
-
-
3Gain-
CLCNKBp.R19K
Missense
SNP
0.508
3Gain-
CLDN12-
-
-
-
3Gain-
CLDN15-
-
-
-
3Gain-
CLDN19-
-
-
-
3Gain-
CLDN25-
-
-
-
1Loss-
CLDN3-
-
-
-
3Gain-
CLDN4-
-
-
-
3Gain-
CLDN5-
-
-
-
3Gain-
CLDND2-
-
-
-
1Loss-
CLEC12A-
-
-
-
3Gain-
CLEC12B-
-
-
-
3Gain-
CLEC1A-
-
-
-
3Gain-
CLEC1B-
-
-
-
3Gain-
CLEC2A-
-
-
-
3Gain-
CLEC2B-
-
-
-
3Gain-
CLEC2D-
-
-
-
3Gain-
CLEC2L-
-
-
-
3Gain-
CLEC3Ap.H98Y
Missense
SNP
0.385
2--
CLEC4A-
-
-
-
3Gain-
CLEC4C-
-
-
-
3Gain-
CLEC4D-
-
-
-
3Gain-
CLEC4E-
-
-
-
3Gain-
CLEC4Mp.E128K
Missense
SNP
0.528
2--
CLEC5A-
-
-
-
3Gain-
CLEC6A-
-
-
-
3Gain-
CLEC7A-
-
-
-
3Gain-
CLEC9A-
-
-
-
3Gain-
CLECL1-
-
-
-
3Gain-
CLIC4-
-
-
-
3Gain-
CLIC5-
-
-
-
3Gain-
CLINT1-
-
-
-
3Gain-
CLIP1-
-
-
-
3Gain-
CLIP2-
-
-
-
3Gain-
CLK2-
-
-
-
3Gain-
CLK3-
-
-
-
3Gain-
CLK4-
-
-
-
3Gain-
CLMP-
-
-
-
1Loss-
CLN6-
-
-
-
3Gain-
CLNS1A-
-
-
-
3Gain-
CLP1-
-
-
-
3Gain-
CLPB-
-
-
-
3Gain-
CLPS-
-
-
-
3Gain-
CLPSL1-
-
-
-
3Gain-
CLPSL2-
-
-
-
3Gain-
CLPX-
-
-
-
3Gain-
CLSPN-
-
-
-
3Gain-
CLSTN1-
-
-
-
3Gain-
CLSTN3-
-
-
-
3Gain-
CLTB-
-
-
-
3Gain-
CLTC-
-
-
-
3Gain-
CLTCL1-
-
-
-
3Gain-
CLVS1-
-
-
-
3Gain-
CMAS-
-
-
-
3Gain-
CMC1-
-
-
-
1Loss-
CMPK1-
-
-
-
3Gain-
CMTM5-
-
-
-
1Loss-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CMTR1-
-
-
-
3Gain-
CMYA5-
-
-
-
3Gain-
CNBD1-
-
-
-
3Gain-
CNBD2-
-
-
-
5Amp-
CNGA3-
-
-
-
1Loss-
CNGB3-
-
-
-
3Gain-
CNIH2-
-
-
-
3Gain-
CNIH3-
-
-
-
3Gain-
CNIH4-
-
-
-
3Gain-
CNKSR1-
-
-
-
3Gain-
CNN2-
-
-
-
1Loss-
CNN3-
-
-
-
3Gain-
CNNM3-
-
-
-
1Loss-
CNNM4-
-
-
-
1Loss-
CNOT10-
-
-
-
1Loss-
CNOT11-
-
-
-
1Loss-
CNOT4-
-
-
-
3Gain-
CNOT6-
-
-
-
3Gain-
CNOT8-
-
-
-
3Gain-
CNP-
-
-
-
3Gain-
CNPY1-
-
-
-
3Gain-
CNPY3-
-
-
-
3Gain-
CNPY4-
-
-
-
3Gain-
CNR1-
-
-
-
3Gain-
CNR2-
-
-
-
3Gain-
CNST-
-
-
-
3Gain-
CNTD1-
-
-
-
3Gain-
CNTF-
-
-
-
3Gain-
CNTN2-
-
-
-
3Gain-
CNTN4-
-
-
-
1Loss-
CNTN5p.E823K
Missense
SNP
0.990
3Gain-
CNTN6-
-
-
-
1Loss-
CNTNAP1-
-
-
-
3Gain-
CNTNAP2-
-
-
-
3Gain-
CNTNAP5-
-
-
-
1Loss-
COA1-
-
-
-
3Gain-
COA3-
-
-
-
3Gain-
COA4-
-
-
-
3Gain-
COA5-
-
-
-
1Loss-
COA6-
-
-
-
3Gain-
COA7-
-
-
-
3Gain-
COASY-
-
-
-
3Gain-
COBL-
-
-
-
3Gain-
COG1-
-
-
-
3Gain-
COG2-
-
-
-
3Gain-
COG5-
-
-
-
3Gain-
COIL-
-
-
-
3Gain-
COL11A1-
-
-
-
3Gain-
COL11A2p.P1186S
Missense
SNP
0.654
3Gain-
COL12A1-
-
-
-
3Gain-
COL13A1p.D375N
Missense
SNP
0.471
2--
COL16A1-
-
-
-
3Gain-
COL17A1p.R145*
Nonsense
SNP
0.690
2--
COL19A1-
-
-
-
3Gain-
COL1A1-
-
-
-
3Gain-
COL1A2-
-
-
-
3Gain-
COL20A1-
-
-
-
5Amp-
COL21A1-
-
-
-
3Gain-
COL22A1p.G741E
Missense
SNP
0.360
2--
COL23A1-
-
-
-
3Gain-
COL24A1-
-
-
-
3Gain-
COL25A1p.P502S
Missense
SNP
1.000
2--
COL26A1-
-
-
-
3Gain-
COL28A1-
-
-
-
3Gain-
COL3A1p.P853S
p.D1348N
Missense
Missense
SNP
SNP
0.560
0.442
2--
COL4A3p.G1083E
Missense
SNP
0.500
2--
COL4A3BP-
-
-
-
3Gain-
COL4A4p.G1187E
p.P115S
Missense
Missense
SNP
SNP
0.605
0.279
2--
COL5A1p.E308K
Missense
SNP
0.451
2--
COL6A3p.E1804K
Missense
SNP
0.523
2--
COL6A5p.G1591E
Missense
SNP
0.544
2--
COL8A2-
-
-
-
3Gain-
COL9A1-
-
-
-
3Gain-
COL9A2-
-
-
-
3Gain-
COL9A3-
-
-
-
5Amp-
COLCA2-
-
-
-
1Loss-
COLGALT2-
-
-
-
3Gain-
COLQ-
-
-
-
1Loss-
COMMD1-
-
-
-
6Amp-
COMMD10-
-
-
-
3Gain-
COMMD4-
-
-
-
3Gain-
COMMD5-
-
-
-
3Gain-
COMMD7-
-
-
-
5Amp-
COMT-
-
-
-
3Gain-
COP1-
-
-
-
3Gain-
COPA-
-
-
-
3Gain-
COPG2-
-
-
-
3Gain-
COPS2-
-
-
-
3Gain-
COPS5-
-
-
-
3Gain-
COPS6-
-
-
-
3Gain-
COPS7A-
-
-
-
3Gain-
COPZ2-
-
-
-
3Gain-
COQ5-
-
-
-
3Gain-
COQ8A-
-
-
-
3Gain-
CORO1B-
-
-
-
3Gain-
CORO1C-
-
-
-
4Gain-
CORO2B-
-
-
-
3Gain-
CORT-
-
-
-
3Gain-
COX11-
-
-
-
3Gain-
COX19-
-
-
-
3Gain-
COX20-
-
-
-
3Gain-
COX4I2-
-
-
-
5Amp-
COX5A-
-
-
-
3Gain-
COX5B-
-
-
-
1Loss-
COX6A1-
-
-
-
3Gain-
COX6C-
-
-
-
3Gain-
COX7A2-
-
-
-
3Gain-
COX7C-
-
-
-
3Gain-
COX8A-
-
-
-
3Gain-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA3p.R237C
Missense
SNP
0.464
2--
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPA6-
-
-
-
3Gain-
CPEB1-
-
-
-
3Gain-
CPEB4-
-
-
-
3Gain-
CPED1-
-
-
-
3Gain-
CPLANE2-
-
-
-
3Gain-
CPLX2-
-
-
-
3Gain-
CPLX3-
-
-
-
3Gain-
CPNE1-
-
-
-
5Amp-
CPNE3-
-
-
-
3Gain-
CPNE5-
-
-
-
3Gain-
CPNE9-
-
-
-
1Loss-
CPQ-
-
-
-
3Gain-
CPSF4-
-
-
-
3Gain-
CPSF4L-
-
-
-
3Gain-
CPSF7-
-
-
-
3Gain-
CPT1A-
-
-
-
3Gain-
CPT1B-
-
-
-
3Gain-
CPT2-
-
-
-
3Gain-
CPTP-
-
-
-
3Gain-
CPVL-
-
-
-
3Gain-
CR1-
-
-
-
3Gain-
CR1L-
-
-
-
3Gain-
CR2-
-
-
-
3Gain-
CRABP1-
-
-
-
3Gain-
CRABP2-
-
-
-
3Gain-
CRACR2A-
-
-
-
3Gain-
CRB1-
-
-
-
3Gain-
CRBN-
-
-
-
1Loss-
CRCP-
-
-
-
3Gain-
CRCT1-
-
-
-
3Gain-
CREB3L2-
-
-
-
3Gain-
CREB3L3-
-
-
-
1Loss-
CREB3L4-
-
-
-
3Gain-
CREB5-
-
-
-
3Gain-
CREBL2-
-
-
-
3Gain-
CREBRF-
-
-
-
3Gain-
CREBZF-
-
-
-
3Gain-
CREG1-
-
-
-
3Gain-
CREG2-
-
-
-
1Loss-
CRELD1-
-
-
-
1Loss-
CRELD2-
-
-
-
3Gain-
CRH-
-
-
-
3Gain-
CRHBP-
-
-
-
3Gain-
CRHR1-
-
-
-
3Gain-
CRHR2-
-
-
-
3Gain-
CRIP3-
-
-
-
3Gain-
CRISP1-
-
-
-
3Gain-
CRISP2-
-
-
-
3Gain-
CRISP3-
-
-
-
3Gain-
CRISPLD1-
-
-
-
3Gain-
CRKL-
-
-
-
3Gain-
CRNKL1p.P126S
Missense
SNP
0.634
2--
CRNN-
-
-
-
3Gain-
CROCC-
-
-
-
3Gain-
CROT-
-
-
-
3Gain-
CRP-
-
-
-
3Gain-
CRTAM-
-
-
-
1Loss-
CRTAP-
-
-
-
1Loss-
CRTC2-
-
-
-
3Gain-
CRTC3-
-
-
-
3Gain-
CRY1-
-
-
-
1LossCRY1--TTC41P
CRYAB-
-
-
-
1Loss-
CRYBA4-
-
-
-
3Gain-
CRYBB1-
-
-
-
3Gain-
CRYBB2-
-
-
-
3Gain-
CRYBB3-
-
-
-
3Gain-
CRYBG2-
-
-
-
3Gain-
CRYGN-
-
-
-
3Gain-
CRYZ-
-
-
-
3Gain-
CSDC2-
-
-
-
3Gain-
CSDE1-
-
-
-
3Gain-
CSE1L-
-
-
-
5Amp-
CSF1-
-
-
-
3Gain-
CSF1R-
-
-
-
3Gain-
CSF2-
-
-
-
3Gain-
CSF2RB-
-
-
-
3Gain-
CSF3-
-
-
-
3Gain-
CSF3Rp.A333T
Missense
SNP
0.302
3Gain-
CSH1-
-
-
-
3Gain-
CSH2-
-
-
-
3Gain-
CSHL1-
-
-
-
3Gain-
CSK-
-
-
-
3Gain-
CSKMT-
-
-
-
3Gain-
CSMD1p.E3527K
p.S1067F
p.F544I
Missense
Missense
Missense
SNP
SNP
SNP
0.591
0.637
0.354
2--
CSMD2-
-
-
-
3Gain-
CSMD3p.Q2587H
p.G1102E
p.S280L
p.G247E
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.378
0.644
0.387
0.589
3Gain-
CSNK1A1-
-
-
-
3Gain-
CSNK1D-
-
-
-
3Gain-
CSNK1E-
-
-
-
3Gain-
CSNK1G1-
-
-
-
3Gain-
CSNK1G2-
-
-
-
1Loss-
CSNK1G3-
-
-
-
3Gain-
CSPG4-
-
-
-
3Gain-
CSPP1-
-
-
-
3Gain-
CSRP1-
-
-
-
3Gain-
CST6-
-
-
-
3Gain-
CSTF1-
-
-
-
5Amp-
CT62-
-
-
-
3Gain-
CTAGE4-
-
-
-
3Gain-
CTAGE8-
-
-
-
3Gain-
CTBS-
-
-
-
3Gain-
CTCFL-
-
-
-
5Amp-
CTDSPL2-
-
-
-
3Gain-
CTH-
-
-
-
3Gain-
CTHRC1-
-
-
-
3Gain-
CTNNA1-
-
-
-
3Gain-
CTNNA2-
-
-
-
3Gain-
CTNNBIP1-
-
-
-
3Gain-
CTNNBL1-
-
-
-
5Amp-
CTNND1-
-
-
-
3Gain-
CTNND2p.E182K
Missense
SNP
0.553
2--
CTPS1-
-
-
-
3Gain-
CTRC-
-
-
-
3Gain-
CTSA-
-
-
-
5Amp-
CTSC-
-
-
-
3Gain-
CTSF-
-
-
-
3Gain-
CTSH-
-
-
-
3Gain-
CTSK-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CTSW-
-
-
-
3Gain-
CTSZ-
-
-
-
5Amp-
CTTN-
-
-
-
3Gain-
CTTNBP2-
-
-
-
3Gain-
CTTNBP2NL-
-
-
-
3Gain-
CTU1-
-
-
-
1Loss-
CTXN2-
-
-
-
3Gain-
CTXN3-
-
-
-
3Gain-
CUEDC1-
-
-
-
3Gain-
CUL1-
-
-
-
3Gain-
CUL5-
-
-
-
1Loss-
CUL7-
-
-
-
3Gain-
CUL9-
-
-
-
3Gain-
CUTA-
-
-
-
3Gain-
CUX1-
-
-
-
3Gain-
CUX2-
-
-
-
3Gain-
CWC15-
-
-
-
3Gain-
CWC25-
-
-
-
3Gain-
CWC27-
-
-
-
3Gain-
CWF19L2-
-
-
-
1Loss-
CWH43p.E685K
Missense
SNP
1.000
2--
CXCL14-
-
-
-
3Gain-
CXCR5-
-
-
-
1Loss-
CXXC5-
-
-
-
3Gain-
CYB561-
-
-
-
3Gain-
CYB561A3-
-
-
-
3Gain-
CYB561D1-
-
-
-
3Gain-
CYB5R1-
-
-
-
3Gain-
CYB5R3-
-
-
-
3Gain-
CYB5R4-
-
-
-
3Gain-
CYB5RL-
-
-
-
3Gain-
CYBC1-
-
-
-
3Gain-
CYCS-
-
-
-
3Gain-
CYFIP1-
-
-
-
3Gain-
CYFIP2-
-
-
-
3Gain-
CYGB-
-
-
-
3Gain-
CYP11A1-
-
-
-
3Gain-
CYP19A1-
-
-
-
3Gain-
CYP1A1-
-
-
-
3Gain-
CYP1A2-
-
-
-
3Gain-
CYP21A2-
-
-
-
3Gain-
CYP24A1p.R514*
Nonsense
SNP
0.366
5Amp-
CYP27C1-
-
-
-
1Loss-
CYP2D6-
-
-
-
3Gain-
CYP2D7-
-
-
-
3Gain-
CYP2J2-
-
-
-
3Gain-
CYP2W1-
-
-
-
3Gain-
CYP39A1-
-
-
-
3Gain-
CYP3A4-
-
-
-
3Gain-
CYP3A43-
-
-
-
3Gain-
CYP3A5-
-
-
-
3Gain-
CYP3A7-
-
-
-
3Gain-
CYP3A7-CYP3A51P-
-
-
-
3Gain-
CYP46A1-
-
-
-
1Loss-
CYP4A11-
-
-
-
3Gain-
CYP4A22-
-
-
-
3Gain-
CYP4B1p.G86R
Missense
SNP
0.460
3Gain-
CYP4X1-
-
-
-
3Gain-
CYP4Z1-
-
-
-
3Gain-
CYP51A1-
-
-
-
3Gain-
CYP7A1-
-
-
-
3Gain-
CYP7B1p.E321K
Missense
SNP
0.338
3Gain-
CYR61-
-
-
-
3Gain-
CYREN-
-
-
-
3Gain-
CYSTM1-
-
-
-
3Gain-
CYTH1-
-
-
-
3Gain-
CYTH3-
-
-
-
3Gain-
CYTH4-
-
-
-
3Gain-
DAAM2-
-
-
-
3Gain-
DAB1-
-
-
-
3Gain-
DAGLA-
-
-
-
3Gain-
DAGLB-
-
-
-
3Gain-
DAO-
-
-
-
4Gain-
DAP3-
-
-
-
3Gain-
DAPK2-
-
-
-
3Gain-
DAPK3-
-
-
-
1Loss-
DARS2-
-
-
-
3Gain-
DAXX-
-
-
-
3Gain-
DAZAP1-
-
-
-
1Loss-
DAZL-
-
-
-
1Loss-
DBF4-
-
-
-
3Gain-
DBF4B-
-
-
-
3Gain-
DBI-
-
-
-
1Loss-
DBN1-
-
-
-
3Gain-
DBNDD2-
-
-
-
5Amp-
DBNL-
-
-
-
3Gain-
DBT-
-
-
-
3Gain-
DCAF13-
-
-
-
3Gain-
DCAF4L2-
-
-
-
3Gain-
DCAF6-
-
-
-
3Gain-
DCAF7-
-
-
-
3Gain-
DCAF8-
-
-
-
3Gain-
DCAKD-
-
-
-
3Gain-
DCANP1-
-
-
-
3Gain-
DCDC2-
-
-
-
3Gain-
DCDC2B-
-
-
-
3Gain-
DCLRE1B-
-
-
-
3Gain-
DCP1B-
-
-
-
3Gain-
DCP2-
-
-
-
3Gain-
DCPS-
-
-
-
1Loss-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCSTAMP-
-
-
-
3Gain-
DCTN4-
-
-
-
3Gain-
DCUN1D5-
-
-
-
1Loss-
DCXR-
-
-
-
3Gain-
DDAH1-
-
-
-
3Gain-
DDB1-
-
-
-
3Gain-
DDC-
-
-
-
3Gain-
DDI1-
-
-
-
1Loss-
DDI2-
-
-
-
3Gain-
DDIAS-
-
-
-
3Gain-
DDNp.G296E
Missense
SNP
0.994
2--
DDOST-
-
-
-
3Gain-
DDR2-
-
-
-
3Gain-
DDT-
-
-
-
3Gain-
DDTL-
-
-
-
3Gain-
DDX1p.S617F
Missense
SNP
0.500
2--
DDX10-
-
-
-
1Loss-
DDX11-
-
-
-
3Gain-
DDX17-
-
-
-
3Gain-
DDX18-
-
-
-
1Loss-
DDX20-
-
-
-
3Gain-
DDX25-
-
-
-
1Loss-
DDX27-
-
-
-
5Amp-
DDX4p.E607K
Missense
SNP
0.636
3Gain-
DDX41-
-
-
-
3Gain-
DDX42-
-
-
-
3Gain-
DDX43-
-
-
-
3Gain-
DDX46-
-
-
-
3Gain-
DDX47-
-
-
-
3Gain-
DDX5-
-
-
-
3Gain-
DDX52-
-
-
-
3Gain-
DDX54-
-
-
-
3Gain-
DDX56-
-
-
-
3Gain-
DDX59-
-
-
-
3Gain-
DDX6-
-
-
-
1Loss-
DECR1-
-
-
-
3Gain-
DEDD-
-
-
-
3Gain-
DEF6-
-
-
-
3Gain-
DEFB110-
-
-
-
3Gain-
DEFB112-
-
-
-
3Gain-
DEFB113-
-
-
-
3Gain-
DEFB114-
-
-
-
3Gain-
DEFB115-
-
-
-
5Amp-
DEFB116-
-
-
-
5Amp-
DEFB118-
-
-
-
5Amp-
DEFB119-
-
-
-
5Amp-
DEFB121-
-
-
-
5Amp-
DEFB123-
-
-
-
5Amp-
DEFB124-
-
-
-
5Amp-
DEFB133-
-
-
-
3Gain-
DEGS1-
-
-
-
3Gain-
DEGS2-
-
-
-
1Loss-
DEK-
-
-
-
3Gain-
DELE1-
-
-
-
3Gain-
DENND1B-
-
-
-
3Gain-
DENND2A-
-
-
-
3Gain-
DENND2Cp.E800K
Missense
SNP
0.478
3Gain-
DENND2D-
-
-
-
3Gain-
DENND4A-
-
-
-
3Gain-
DENND4B-
-
-
-
3Gain-
DENND5B-
-
-
-
3Gain-
DENND6B-
-
-
-
3Gain-
DENR-
-
-
-
3Gain-
DEPDC1-
-
-
-
3Gain-
DEPDC1B-
-
-
-
3Gain-
DEPDC5-
-
-
-
3Gain-
DERA-
-
-
-
3Gain-
DERL3-
-
-
-
3Gain-
DESI1-
-
-
-
3Gain-
DESI2-
-
-
-
3Gain-
DET1-
-
-
-
3Gain-
DEUP1-
-
-
-
3Gain-
DFFA-
-
-
-
3Gain-
DFFB-
-
-
-
3Gain-
DGAT2-
-
-
-
3Gain-
DGCR2-
-
-
-
3Gain-
DGCR6-
-
-
-
3Gain-
DGCR6L-
-
-
-
3Gain-
DGCR8-
-
-
-
3Gain-
DGKB-
-
-
-
3Gain-
DGKE-
-
-
-
3Gain-
DGKI-
-
-
-
3Gain-
DHCR24-
-
-
-
3Gain-
DHCR7-
-
-
-
3Gain-
DHDDS-
-
-
-
3Gain-
DHFR-
-
-
-
3Gain-
DHRS11-
-
-
-
3Gain-
DHRS2-
-
-
-
1Loss-
DHRS3-
-
-
-
3Gain-
DHRS4-
-
-
-
1Loss-
DHRS4L2-
-
-
-
1Loss-
DHX29-
-
-
-
3Gain-
DHX35-
-
-
-
5Amp-
DHX40-
-
-
-
3Gain-
DHX58-
-
-
-
3Gain-
DHX8-
-
-
-
3Gain-
DHX9-
-
-
-
3Gain-
DIABLO-
-
-
-
3Gain-
DIAPH1-
-
-
-
3Gain-
DIDO1-
-
-
-
5Amp-
DIMT1-
-
-
-
3Gain-
DIO1-
-
-
-
3Gain-
DIO3-
-
-
-
1Loss-
DIRAS1-
-
-
-
1Loss-
DIRAS3-
-
-
-
3Gain-
DIS3L-
-
-
-
3Gain-
DISC1-
-
-
-
3Gain-
DISP1-
-
-
-
3Gain-
DISP2-
-
-
-
3Gain-
DISP3-
-
-
-
3Gain-
DIXDC1-
-
-
-
1Loss-
DLAT-
-
-
-
1Loss-
DLD-
-
-
-
3Gain-
DLG2-
-
-
-
3Gain-
DLG4p.P339L
Missense
SNP
0.992
2--
DLGAP3-
-
-
-
3Gain-
DLGAP4-
-
-
-
5Amp-
DLK1-
-
-
-
1Loss-
DLK2-
-
-
-
3Gain-
DLL4-
-
-
-
3Gain-
DLX3-
-
-
-
3Gain-
DLX4-
-
-
-
3Gain-
DLX5-
-
-
-
3Gain-
DLX6-
-
-
-
3Gain-
DMAP1-
-
-
-
3Gain-
DMBT1p.R1650*
Nonsense
SNP
0.474
2--
DMBX1-
-
-
-
3Gain-
DMC1-
-
-
-
3Gain-
DMDp.D2519N
Missense
SNP
1.000
NDND-
DMGDHp.P371S
Missense
SNP
0.316
3Gain-
DMRT3p.P426S
Missense
SNP
0.509
2--
DMRTA2-
-
-
-
3Gain-
DMRTB1-
-
-
-
3Gain-
DMTF1-
-
-
-
3Gain-
DMXL1-
-
-
-
3Gain-
DMXL2-
-
-
-
3Gain-
DNAAF4-
-
-
-
3Gain-
DNAAF5-
-
-
-
3Gain-
DNAH11-
-
-
-
3Gain-
DNAH14-
-
-
-
3Gain-
DNAH17-
-
-
-
3Gain-
DNAH3p.E1698K
Missense
SNP
0.583
2--
DNAH5p.E474K
Missense
SNP
0.480
2--
DNAH8p.G3662E
p.V3832A
Missense
Missense
SNP
SNP
0.348
0.642
3Gain-
DNAI2-
-
-
-
3Gain-
DNAJA4-
-
-
-
3Gain-
DNAJB13-
-
-
-
3Gain-
DNAJB4-
-
-
-
3Gain-
DNAJB6-
-
-
-
3Gain-
DNAJB7-
-
-
-
3Gain-
DNAJB9-
-
-
-
3Gain-
DNAJC11-
-
-
-
3Gain-
DNAJC16-
-
-
-
3Gain-
DNAJC17-
-
-
-
3Gain-
DNAJC18-
-
-
-
3Gain-
DNAJC2-
-
-
-
3Gain-
DNAJC30-
-
-
-
3Gain-
DNAJC4-
-
-
-
3Gain-
DNAJC5-
-
-
-
5Amp-
DNAJC5B-
-
-
-
3Gain-
DNAJC6-
-
-
-
3Gain-
DNAJC7-
-
-
-
3Gain-
DNAJC8-
-
-
-
3Gain-
DNAL4-
-
-
-
3Gain-
DNALI1-
-
-
-
3Gain-
DNASE2B-
-
-
-
3Gain-
DND1-
-
-
-
3Gain-
DNM1L-
-
-
-
3Gain-
DNM3-
-
-
-
3Gain-
DNMT3B-
-
-
-
5Amp-
DNPH1-
-
-
-
3Gain-
DNTTIP1-
-
-
-
5Amp-
DNTTIP2-
-
-
-
3Gain-
DOCK2-
-
-
-
3Gain-
DOCK3p.E752K
Missense
SNP
0.389
2--
DOCK4-
-
-
-
3Gain-
DOCK7-
-
-
-
3Gain-
DOHH-
-
-
-
1Loss-
DOK3-
-
-
-
3Gain-
DOK5-
-
-
-
5Amp-
DOP1A-
-
-
-
3Gain-
DOT1L-
-
-
-
1Loss-
DPAGT1-
-
-
-
1Loss-
DPCR1p.E926K
Missense
SNP
0.640
NDND-
DPF2-
-
-
-
3Gain-
DPF3p.P123L
Missense
SNP
1.000
2--
DPH2-
-
-
-
3Gain-
DPH3-
-
-
-
1Loss-
DPH5-
-
-
-
3Gain-
DPH6-
-
-
-
3Gain-
DPM1-
-
-
-
5Amp-
DPM3-
-
-
-
3Gain-
DPP10-
-
-
-
1Loss-
DPP3-
-
-
-
3Gain-
DPP6-
-
-
-
3Gain-
DPP8-
-
-
-
3Gain-
DPP9-
-
-
-
1Loss-
DPPA3-
-
-
-
3Gain-
DPPA5-
-
-
-
3Gain-
DPRX-
-
-
-
1Loss-
DPT-
-
-
-
3Gain-
DPY19L1-
-
-
-
3Gain-
DPY19L4-
-
-
-
3Gain-
DPYD-
-
-
-
3Gain-
DPYS-
-
-
-
3Gain-
DPYSL3-
-
-
-
3Gain-
DR1-
-
-
-
3Gain-
DRAM1-
-
-
-
3Gain-
DRAM2-
-
-
-
3Gain-
DRAP1-
-
-
-
3Gain-
DRAXIN-
-
-
-
3Gain-
DRD1-
-
-
-
3Gain-
DRD2-
-
-
-
1Loss-
DRG1-
-
-
-
3Gain-
DRICH1-
-
-
-
3Gain-
DSCAML1p.D949N
Missense
SNP
0.978
1Loss-
DSEp.E190K
Missense
SNP
0.656
2--
DSN1-
-
-
-
5Amp-
DST-
-
-
-
3Gain-
DSTYK-
-
-
-
3Gain-
DTL-
-
-
-
3Gain-
DTNBP1-
-
-
-
3Gain-
DTWD1-
-
-
-
3Gain-
DTWD2-
-
-
-
3Gain-
DTX1-
-
-
-
3Gain-
DTX2-
-
-
-
3Gain-
DTX4-
-
-
-
3Gain-
DUOX1-
-
-
-
3Gain-
DUOX2-
-
-
-
3Gain-
DUOXA1-
-
-
-
3Gain-
DUOXA2-
-
-
-
3Gain-
DUS1L-
-
-
-
3Gain-
DUS4L-
-
-
-
3Gain-
DUSP1-
-
-
-
3Gain-
DUSP10-
-
-
-
3Gain-
DUSP12-
-
-
-
3Gain-
DUSP14-
-
-
-
3Gain-
DUSP15-
-
-
-
5Amp-
DUSP16-
-
-
-
3Gain-
DUSP18-
-
-
-
3Gain-
DUSP2-
-
-
-
1Loss-
DUSP23-
-
-
-
3Gain-
DUSP27-
-
-
-
3Gain-
DUSP3-
-
-
-
3Gain-
DUT-
-
-
-
3Gain-
DUXAp.R66*
Nonsense
SNP
0.412
1Loss-
DVL1-
-
-
-
3Gain-
DYNC1H1-
-
-
-
1Loss-
DYNC1I1-
-
-
-
3Gain-
DYNC1LI1-
-
-
-
1Loss-
DYNC2H1-
-
-
-
1Loss-
DYNLL1-
-
-
-
3Gain-
DYNLL2-
-
-
-
3Gain-
DYNLRB1-
-
-
-
5Amp-
DYRK3-
-
-
-
3Gain-
DYRK4-
-
-
-
3Gain-
E2F1-
-
-
-
5Amp-
E2F2-
-
-
-
3Gain-
E2F3p.P415S
Missense
SNP
0.684
3Gain-
E2F5-
-
-
-
3Gain-
EAF1-
-
-
-
1Loss-
EBAG9-
-
-
-
3Gain-
EBF1-
-
-
-
3Gain-
EBI3-
-
-
-
1Loss-
EBNA1BP2-
-
-
-
3Gain-
ECE1-
-
-
-
3Gain-
ECHDC2-
-
-
-
3Gain-
ECM1-
-
-
-
3Gain-
ECSCR-
-
-
-
3Gain-
ECT2Lp.R685Q
Missense
SNP
0.483
2--
EDAR-
-
-
-
1Loss-
EDARADD-
-
-
-
3Gain-
EDC3-
-
-
-
3Gain-
EDEM1-
-
-
-
1Loss-
EDEM2-
-
-
-
5Amp-
EDEM3-
-
-
-
3Gain-
EDIL3-
-
-
-
3Gain-
EDN1-
-
-
-
3Gain-
EDN2-
-
-
-
3Gain-
EDN3-
-
-
-
5Amp-
EED-
-
-
-
3Gain-
EEF1A1-
-
-
-
3Gain-
EEF1A2-
-
-
-
5Amp-
EEF1G-
-
-
-
3Gain-
EEF2-
-
-
-
1Loss-
EEPD1-
-
-
-
3Gain-
EFCAB10-
-
-
-
3Gain-
EFCAB13-
-
-
-
3Gain-
EFCAB14-
-
-
-
3Gain-
EFCAB2-
-
-
-
3Gain-
EFCAB3-
-
-
-
3Gain-
EFCAB6-
-
-
-
3Gain-
EFCAB7-
-
-
-
3Gain-
EFCAB8-
-
-
-
5Amp-
EFCAB9-
-
-
-
3Gain-
EFEMP2-
-
-
-
3Gain-
EFHB-
-
-
-
1Loss-
EFHC1-
-
-
-
3Gain-
EFHD2-
-
-
-
3Gain-
EFL1-
-
-
-
3Gain-
EFNA1-
-
-
-
3Gain-
EFNA2-
-
-
-
1Loss-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EFNA5-
-
-
-
3Gain-
EFS-
-
-
-
1Loss-
EFTUD2-
-
-
-
3Gain-
EGFL8-
-
-
-
3Gain-
EGFR-
-
-
-
3Gain-
EGLN1-
-
-
-
3Gain-
EGR1-
-
-
-
3Gain-
EHBP1p.T264I
Missense
SNP
0.366
3Gain-
EHBP1L1-
-
-
-
3Gain-
EHD1-
-
-
-
3Gain-
EHD4-
-
-
-
3Gain-
EI24-
-
-
-
1Loss-
EID1-
-
-
-
3Gain-
EID3-
-
-
-
3Gain-
EIF1-
-
-
-
3Gain-
EIF1AD-
-
-
-
3Gain-
EIF2AK1-
-
-
-
3Gain-
EIF2AK3-
-
-
-
1Loss-
EIF2AK4-
-
-
-
3Gain-
EIF2B3-
-
-
-
3Gain-
EIF2D-
-
-
-
3Gain-
EIF2S2-
-
-
-
5Amp-
EIF2S3B-
-
-
-
3Gain-
EIF3B-
-
-
-
3Gain-
EIF3D-
-
-
-
3Gain-
EIF3E-
-
-
-
3Gain-
EIF3I-
-
-
-
3Gain-
EIF3J-
-
-
-
3Gain-
EIF3L-
-
-
-
3Gain-
EIF4A3-
-
-
-
3Gain-
EIF4E1B-
-
-
-
3Gain-
EIF4EBP3-
-
-
-
3Gain-
EIF4ENIF1-
-
-
-
3Gain-
EIF4G3-
-
-
-
3Gain-
EIF4H-
-
-
-
3Gain-
EIF5-
-
-
-
1Loss-
EIF5B-
-
-
-
1Loss-
EIF6-
-
-
-
5Amp-
ELANE-
-
-
-
1Loss-
ELAVL4p.P176L
p.R209K
Missense
Missense
SNP
SNP
0.457
0.491
3Gain-
ELF3-
-
-
-
3Gain-
ELFN1-
-
-
-
3Gain-
ELFN2-
-
-
-
3Gain-
ELL2-
-
-
-
3Gain-
ELL3-
-
-
-
3Gain-
ELMO1-
-
-
-
3Gain-
ELMO2-
-
-
-
5Amp-
ELMOD1-
-
-
-
1Loss-
ELN-
-
-
-
3Gain-
ELOA-
-
-
-
3Gain-
ELOC-
-
-
-
3Gain-
ELOVL1-
-
-
-
3Gain-
ELOVL2-
-
-
-
3Gain-
ELOVL4-
-
-
-
3Gain-
ELOVL5-
-
-
-
3Gain-
ELOVL7-
-
-
-
3Gain-
EMB-
-
-
-
5Amp-
EMC1-
-
-
-
3Gain-
EMC2-
-
-
-
3Gain-
EMC3-
-
-
-
1Loss-
EMC4-
-
-
-
3Gain-
EMC7-
-
-
-
3Gain-
EME1-
-
-
-
3Gain-
EMG1-
-
-
-
3Gain-
EMID1-
-
-
-
3Gain-
EMILIN3-
-
-
-
5Amp-
EML1-
-
-
-
1Loss-
EML3-
-
-
-
3Gain-
EMP1-
-
-
-
3Gain-
EMSY-
-
-
-
3Gain-
EN1-
-
-
-
1Loss-
EN2-
-
-
-
3Gain-
ENAH-
-
-
-
3Gain-
ENC1-
-
-
-
3Gain-
ENDOD1-
-
-
-
3Gain-
ENDOV-
-
-
-
3Gain-
ENGASE-
-
-
-
3Gain-
ENO1-
-
-
-
3Gain-
ENO2-
-
-
-
3Gain-
ENPEPp.A54V
Missense
SNP
1.000
2--
ENPP4-
-
-
-
3Gain-
ENPP5-
-
-
-
3Gain-
ENPP7-
-
-
-
3Gain-
ENSA-
-
-
-
3Gain-
ENTHD1-
-
-
-
3Gain-
ENY2-
-
-
-
3Gain-
EOMES-
-
-
-
1Loss-
EP300-
-
-
-
3Gain-
EPB41-
-
-
-
3Gain-
EPB41L1p.E825K
Missense
SNP
0.590
5Amp-
EPB41L4A-
-
-
-
3Gain-
EPB41L5-
-
-
-
1Loss-
EPB42p.E126K
Missense
SNP
0.657
3Gain-
EPDR1-
-
-
-
3Gain-
EPHA1-
-
-
-
3Gain-
EPHA10-
-
-
-
3Gain-
EPHA2-
-
-
-
3Gain-
EPHA4p.R489C
Missense
SNP
0.469
2--
EPHA5p.G760S
Missense
SNP
0.457
2--
EPHA7-
-
-
-
3Gain-
EPHA8-
-
-
-
3Gain-
EPHB2-
-
-
-
3Gain-
EPHB4-
-
-
-
3Gain-
EPHB6-
-
-
-
3Gain-
EPHX1-
-
-
-
3Gain-
EPHX4-
-
-
-
3Gain-
EPN3-
-
-
-
3Gain-
EPO-
-
-
-
3Gain-
EPOP-
-
-
-
3Gain-
EPPIN-
-
-
-
5Amp-
EPPIN-WFDC6-
-
-
-
5Amp-
EPRS-
-
-
-
3Gain-
EPS15-
-
-
-
3Gain-
EPS8-
-
-
-
3Gain-
EPS8L3-
-
-
-
3Gain-
EPX-
-
-
-
3Gain-
ERAP1-
-
-
-
3Gain-
ERAP2-
-
-
-
3Gain-
ERBB2-
-
-
-
3Gain-
ERBB4p.G918E
Missense
SNP
0.457
2--
ERBIN-
-
-
-
3Gain-
ERC1-
-
-
-
3Gain-
ERC2p.E885K
Missense
SNP
0.420
2--
ERCC3-
-
-
-
1Loss-
ERCC8-
-
-
-
3Gain-
ERGIC1-
-
-
-
3Gain-
ERGIC2-
-
-
-
3Gain-
ERGIC3-
-
-
-
5Amp-
ERI3-
-
-
-
3Gain-
ERICH3p.S340F
Missense
SNP
0.410
3Gain-
ERICH5-
-
-
-
3Gain-
ERICH6Bp.W391*
Nonsense
SNP
1.000
2--
ERMAP-
-
-
-
3Gain-
ERN1-
-
-
-
3Gain-
ERO1B-
-
-
-
3Gain-
ERP27-
-
-
-
3Gain-
ERP29-
-
-
-
3Gain-
ERRFI1-
-
-
-
3Gain-
ERV3-1-
-
-
-
3Gain-
ERVFRD-1-
-
-
-
3Gain-
ERVV-1-
-
-
-
1Loss-
ERVV-2-
-
-
-
1Loss-
ESAM-
-
-
-
1Loss-
ESF1p.S685L
Missense
SNP
0.183
2--
ESM1-
-
-
-
3Gain-
ESPN-
-
-
-
3Gain-
ESRP1-
-
-
-
3Gain-
ESRRA-
-
-
-
3Gain-
ESRRGp.E319K
Missense
SNP
0.614
3Gain-
ESS2-
-
-
-
3Gain-
ESX1p.R196Q
Missense
SNP
0.553
NDND-
ESYT2-
-
-
-
3Gain-
ETF1-
-
-
-
3Gain-
ETFA-
-
-
-
3Gain-
ETFB-
-
-
-
1Loss-
ETFBKMT-
-
-
-
3Gain-
ETFRF1-
-
-
-
3Gain-
ETHE1-
-
-
-
1Loss-
ETNK1-
-
-
-
3Gain-
ETNK2-
-
-
-
3Gain-
ETS1-
-
-
-
1Loss-
ETV1-
-
-
-
3Gain-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
ETV4-
-
-
-
3Gain-
ETV6-
-
-
-
3Gain-
ETV7-
-
-
-
3Gain-
EVA1B-
-
-
-
3Gain-
EVI5-
-
-
-
3Gain-
EVL-
-
-
-
1Loss-
EVPL-
-
-
-
3Gain-
EVX1-
-
-
-
3Gain-
EWSR1-
-
-
-
3Gain-
EXD1-
-
-
-
3Gain-
EXO1-
-
-
-
3Gain-
EXO5-
-
-
-
3Gain-
EXOC3L4-
-
-
-
1Loss-
EXOC4-
-
-
-
3Gain-
EXOC7-
-
-
-
3Gain-
EXOC8-
-
-
-
3Gain-
EXOSC10-
-
-
-
3Gain-
EXPH5-
-
-
-
1Loss-
EXTL1p.L451F
Missense
SNP
0.494
3Gain-
EXTL2-
-
-
-
3Gain-
EYA1-
-
-
-
3Gain-
EYA2p.S195L
Missense
SNP
0.611
5Amp-
EYA3-
-
-
-
3Gain-
EYS-
-
-
-
3Gain-
EZH1-
-
-
-
3Gain-
EZH2-
-
-
-
3Gain-
F11R-
-
-
-
3Gain-
F12-
-
-
-
3Gain-
F13B-
-
-
-
3Gain-
F2R-
-
-
-
3Gain-
F2RL1-
-
-
-
3Gain-
F2RL2-
-
-
-
3Gain-
F3-
-
-
-
3Gain-
F5-
-
-
-
3Gain-
F8p.D75N
Missense
SNP
0.657
NDND-
FAAH-
-
-
-
3Gain-
FAAP100-
-
-
-
3Gain-
FAAP20-
-
-
-
3Gain-
FABP1-
-
-
-
1Loss-
FABP12-
-
-
-
3Gain-
FABP3-
-
-
-
3Gain-
FABP4-
-
-
-
3Gain-
FABP5-
-
-
-
3Gain-
FABP6-
-
-
-
3Gain-
FABP9-
-
-
-
3Gain-
FADD-
-
-
-
3Gain-
FADS1-
-
-
-
3Gain-
FADS2-
-
-
-
3Gain-
FADS3-
-
-
-
3Gain-
FADS6-
-
-
-
3Gain-
FAF1-
-
-
-
3Gain-
FAF2-
-
-
-
3Gain-
FAH-
-
-
-
3Gain-
FAHD2A-
-
-
-
1Loss-
FAHD2B-
-
-
-
1Loss-
FAM102B-
-
-
-
3Gain-
FAM104A-
-
-
-
3Gain-
FAM110B-
-
-
-
3Gain-
FAM110D-
-
-
-
3Gain-
FAM111A-
-
-
-
3Gain-
FAM111B-
-
-
-
3Gain-
FAM114A2-
-
-
-
3Gain-
FAM117A-
-
-
-
3Gain-
FAM118A-
-
-
-
3Gain-
FAM118B-
-
-
-
1Loss-
FAM126A-
-
-
-
3Gain-
FAM129A-
-
-
-
3Gain-
FAM131B-
-
-
-
3Gain-
FAM131C-
-
-
-
3Gain-
FAM133B-
-
-
-
3Gain-
FAM135A-
-
-
-
3Gain-
FAM13B-
-
-
-
3Gain-
FAM151A-
-
-
-
3Gain-
FAM151B-
-
-
-
3Gain-
FAM153A-
-
-
-
3Gain-
FAM153B-
-
-
-
3Gain-
FAM153C-
-
-
-
3Gain-
FAM161A-
-
-
-
6Amp-
FAM163A-
-
-
-
3Gain-
FAM167B-
-
-
-
3Gain-
FAM168A-
-
-
-
3Gain-
FAM168B-
-
-
-
1Loss-
FAM169A-
-
-
-
3Gain-
FAM169B-
-
-
-
3Gain-
FAM170A-
-
-
-
3Gain-
FAM171A2-
-
-
-
3Gain-
FAM172A-
-
-
-
3Gain-
FAM174A-
-
-
-
3Gain-
FAM174B-
-
-
-
3Gain-
FAM177B-
-
-
-
3Gain-
FAM178B-
-
-
-
1Loss-
FAM180A-
-
-
-
3Gain-
FAM181B-
-
-
-
3Gain-
FAM183A-
-
-
-
3Gain-
FAM185A-
-
-
-
3Gain-
FAM187A-
-
-
-
3Gain-
FAM189A1-
-
-
-
3Gain-
FAM189B-
-
-
-
3Gain-
FAM193B-
-
-
-
3Gain-
FAM19A3-
-
-
-
3Gain-
FAM19A5-
-
-
-
3Gain-
FAM200A-
-
-
-
3Gain-
FAM209A-
-
-
-
5Amp-
FAM209B-
-
-
-
5Amp-
FAM20A-
-
-
-
3Gain-
FAM20B-
-
-
-
3Gain-
FAM20C-
-
-
-
3Gain-
FAM210B-
-
-
-
5Amp-
FAM214A-
-
-
-
3Gain-
FAM216A-
-
-
-
3Gain-
FAM217B-
-
-
-
5Amp-
FAM219B-
-
-
-
3Gain-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM227A-
-
-
-
3Gain-
FAM227B-
-
-
-
3Gain-
FAM229A-
-
-
-
3Gain-
FAM234B-
-
-
-
3Gain-
FAM3C-
-
-
-
3Gain-
FAM43B-
-
-
-
3Gain-
FAM53C-
-
-
-
3Gain-
FAM69A-
-
-
-
3Gain-
FAM71A-
-
-
-
3Gain-
FAM71B-
-
-
-
3Gain-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM76A-
-
-
-
3Gain-
FAM76B-
-
-
-
3Gain-
FAM78B-
-
-
-
3Gain-
FAM81A-
-
-
-
3Gain-
FAM81B-
-
-
-
3Gain-
FAM83Bp.R925Q
Missense
SNP
0.690
3Gain-
FAM83C-
-
-
-
5Amp-
FAM83D-
-
-
-
5Amp-
FAM83F-
-
-
-
3Gain-
FAM86C1-
-
-
-
3Gain-
FAM89A-
-
-
-
3Gain-
FAM89B-
-
-
-
3Gain-
FAM8A1-
-
-
-
3Gain-
FAM92A-
-
-
-
3Gain-
FAM98B-
-
-
-
3Gain-
FAN1-
-
-
-
3Gain-
FANCAp.P497L
Missense
SNP
0.609
2--
FANCD2-
-
-
-
1Loss-
FANCD2OS-
-
-
-
1Loss-
FANCE-
-
-
-
3Gain-
FANCI-
-
-
-
3Gain-
FAPp.S363L
Missense
SNP
0.552
2--
FAR2-
-
-
-
3Gain-
FARSB-
-
-
-
2-FARSB--AL139099.4
FASLG-
-
-
-
3Gain-
FASN-
-
-
-
3Gain-
FASTK-
-
-
-
3Gain-
FAT2-
-
-
-
3Gain-
FAT3p.S1490F
p.P3243S
Missense
Missense
SNP
SNP
0.326
0.322
3Gain-
FAU-
-
-
-
3Gain-
FAXDC2-
-
-
-
3Gain-
FBF1-
-
-
-
3Gain-
FBLIM1-
-
-
-
3Gain-
FBLL1-
-
-
-
3Gain-
FBLN1-
-
-
-
3Gain-
FBLN2-
-
-
-
1Loss-
FBLN7-
-
-
-
1Loss-
FBN1-
-
-
-
3Gain-
FBN2-
-
-
-
3Gain-
FBXL13-
-
-
-
3Gain-
FBXL14-
-
-
-
3Gain-
FBXL17-
-
-
-
3Gain-
FBXL18-
-
-
-
3Gain-
FBXL2-
-
-
-
1Loss-
FBXL20-
-
-
-
3Gain-
FBXL22-
-
-
-
3Gain-
FBXO2-
-
-
-
3Gain-
FBXO21-
-
-
-
3Gain-
FBXO22-
-
-
-
3Gain-
FBXO24p.R415Q
Missense
SNP
0.391
3Gain-
FBXO28-
-
-
-
3Gain-
FBXO38-
-
-
-
3Gain-
FBXO42-
-
-
-
3Gain-
FBXO43-
-
-
-
3Gain-
FBXO44-
-
-
-
3Gain-
FBXO47-
-
-
-
3Gain-
FBXO6-
-
-
-
3Gain-
FBXO7-
-
-
-
3Gain-
FBXO9-
-
-
-
3Gain-
FBXW11-
-
-
-
3Gain-
FBXW8-
-
-
-
3Gain-
FCAMR-
-
-
-
3Gain-
FCER1A-
-
-
-
3Gain-
FCER1G-
-
-
-
3Gain-
FCGR1A-
-
-
-
3Gain-
FCGR1B-
-
-
-
3Gain-
FCGR2A-
-
-
-
3Gain-
FCGR2B-
-
-
-
3Gain-
FCGR2Cp.S174F
Missense
SNP
0.762
3Gain-
FCGR3A-
-
-
-
3Gain-
FCGR3B-
-
-
-
3Gain-
FCHO2-
-
-
-
3Gain-
FCHSD1-
-
-
-
3Gain-
FCHSD2-
-
-
-
3Gain-
FCMR-
-
-
-
3Gain-
FCN3-
-
-
-
3Gain-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
-
-
3Gain-
FCRL3p.P483S
Missense
SNP
0.289
3Gain-
FCRL4-
-
-
-
3Gain-
FCRL5p.G608E
p.E171K
Missense
Missense
SNP
SNP
0.618
0.614
3Gain-
FCRL6-
-
-
-
3Gain-
FCRLA-
-
-
-
3Gain-
FCRLB-
-
-
-
3Gain-
FDPS-
-
-
-
3Gain-
FDX1-
-
-
-
1Loss-
FDXACB1-
-
-
-
1Loss-
FDXR-
-
-
-
3Gain-
FEM1A-
-
-
-
1Loss-
FEM1B-
-
-
-
3Gain-
FEM1C-
-
-
-
3Gain-
FEN1-
-
-
-
3Gain-
FER-
-
-
-
3Gain-
FER1L5-
-
-
-
1Loss-
FERD3L-
-
-
-
3Gain-
FERMT3-
-
-
-
3Gain-
FES-
-
-
-
3Gain-
FEZ1-
-
-
-
1Loss-
FEZF1-
-
-
-
3Gain-
FGD2-
-
-
-
3Gain-
FGD4-
-
-
-
3Gain-
FGD5-
-
-
-
1Loss-
FGF1-
-
-
-
3Gain-
FGF18-
-
-
-
3Gain-
FGF19-
-
-
-
3Gain-
FGF20p.G129E
Missense
SNP
0.361
2--
FGF22-
-
-
-
1Loss-
FGF23-
-
-
-
3Gain-
FGF3-
-
-
-
3Gain-
FGF4-
-
-
-
3Gain-
FGF6-
-
-
-
3Gain-
FGF7-
-
-
-
3Gain-
FGFR1OP2-
-
-
-
3Gain-
FGFR2p.E732K
Missense
SNP
0.475
2--
FGFR4-
-
-
-
3Gain-
FGGY-
-
-
-
3Gain-
FGL2-
-
-
-
3Gain-
FGRp.R91Q
Missense
SNP
0.404
3Gain-
FH-
-
-
-
3Gain-
FHAD1-
-
-
-
3Gain-
FHL2-
-
-
-
1Loss-
FHL3-
-
-
-
3Gain-
FIBP-
-
-
-
3Gain-
FIGNL1-
-
-
-
3Gain-
FILIP1-
-
-
-
3Gain-
FIS1-
-
-
-
3Gain-
FITM2-
-
-
-
5Amp-
FKBP10-
-
-
-
3Gain-
FKBP14-
-
-
-
3Gain-
FKBP1C-
-
-
-
3Gain-
FKBP2-
-
-
-
3Gain-
FKBP4-
-
-
-
3Gain-
FKBP5-
-
-
-
3Gain-
FKBP6-
-
-
-
3Gain-
FKBP9-
-
-
-
3Gain-
FKBPL-
-
-
-
3Gain-
FLAD1-
-
-
-
3Gain-
FLG-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLI1-
-
-
-
1Loss-
FLNC-
-
-
-
3Gain-
FLRT1-
-
-
-
3Gain-
FLT4-
-
-
-
3Gain-
FLVCR1-
-
-
-
3Gain-
FMC1-
-
-
-
3Gain-
FMN1-
-
-
-
3Gain-
FMN2-
-
-
-
3Gain-
FMNL1-
-
-
-
3Gain-
FMO1-
-
-
-
3Gain-
FMO2-
-
-
-
3Gain-
FMO3-
-
-
-
3Gain-
FMO4-
-
-
-
3Gain-
FMO5-
-
-
-
3Gain-
FMOD-
-
-
-
3Gain-
FN3K-
-
-
-
3Gain-
FN3KRP-
-
-
-
3Gain-
FNBP1L-
-
-
-
3Gain-
FNDC10-
-
-
-
3Gain-
FNDC11-
-
-
-
5Amp-
FNDC5-
-
-
-
3Gain-
FNDC7-
-
-
-
3Gain-
FNDC9p.P179S
Missense
SNP
0.689
3Gain-
FNIP1-
-
-
-
3Gain-
FO393400.1-
-
-
-
5Amp-
FOLR1-
-
-
-
3Gain-
FOLR2-
-
-
-
3Gain-
FOLR3-
-
-
-
3Gain-
FOSL1-
-
-
-
3Gain-
FOXB1-
-
-
-
3Gain-
FOXD1-
-
-
-
3Gain-
FOXD2-
-
-
-
3Gain-
FOXD3-
-
-
-
3Gain-
FOXE3-
-
-
-
3Gain-
FOXI1-
-
-
-
3Gain-
FOXI3-
-
-
-
1Loss-
FOXJ1-
-
-
-
3Gain-
FOXJ2-
-
-
-
3Gain-
FOXJ3-
-
-
-
3Gain-
FOXK1-
-
-
-
3Gain-
FOXK2-
-
-
-
3Gain-
FOXM1-
-
-
-
3Gain-
FOXN4-
-
-
-
4Gain-
FOXO6-
-
-
-
3Gain-
FOXP2-
-
-
-
3Gain-
FOXP4-
-
-
-
3Gain-
FOXR1-
-
-
-
1Loss-
FOXRED1-
-
-
-
1Loss-
FOXRED2-
-
-
-
3Gain-
FOXS1-
-
-
-
5Amp-
FPGT-
-
-
-
3Gain-
FPGT-TNNI3Kp.H571Y
Missense
SNP
0.483
3Gain-
FPR1-
-
-
-
1Loss-
FPR2-
-
-
-
1Loss-
FPR3-
-
-
-
1Loss-
FRAS1p.S3342L
Missense
SNP
1.000
2--
FRMD5-
-
-
-
3Gain-
FRMD8-
-
-
-
3Gain-
FRRS1-
-
-
-
3Gain-
FRS3-
-
-
-
3Gain-
FSBP-
-
-
-
3Gain-
FSCN1-
-
-
-
3Gain-
FSCN2-
-
-
-
3Gain-
FSCN3-
-
-
-
3Gain-
FSD1-
-
-
-
1Loss-
FSD2p.E445K
Missense
SNP
0.612
3Gain-
FSHBp.S90F
Missense
SNP
0.477
2--
FSHRp.S605F
Missense
SNP
0.445
2--
FSIP1-
-
-
-
3Gain-
FST-
-
-
-
3Gain-
FSTL3-
-
-
-
1Loss-
FSTL4-
-
-
-
3Gain-
FTH1-
-
-
-
3Gain-
FTMT-
-
-
-
3Gain-
FTSJ3-
-
-
-
3Gain-
FUBP1-
-
-
-
3Gain-
FUCA1-
-
-
-
3Gain-
FURIN-
-
-
-
3Gain-
FUT4-
-
-
-
3Gain-
FUT9p.R328Q
Missense
SNP
0.437
2--
FXYD2-
-
-
-
1Loss-
FXYD6-
-
-
-
1Loss-
FXYD6-FXYD2-
-
-
-
1Loss-
FYB2-
-
-
-
3Gain-
FZD1-
-
-
-
3Gain-
FZD2-
-
-
-
3Gain-
FZD4-
-
-
-
3Gain-
FZD6-
-
-
-
3Gain-
FZD9-
-
-
-
3Gain-
FZR1-
-
-
-
1Loss-
G0S2-
-
-
-
3Gain-
G3BP1-
-
-
-
3Gain-
G6PC-
-
-
-
3Gain-
G6PC3-
-
-
-
3Gain-
GAA-
-
-
-
3Gain-
GAB2-
-
-
-
3Gain-
GAB4-
-
-
-
3Gain-
GABARAPL1-
-
-
-
3Gain-
GABPB1-
-
-
-
3Gain-
GABPB2-
-
-
-
3Gain-
GABRA1-
-
-
-
3Gain-
GABRA5-
-
-
-
3Gain-
GABRA6-
-
-
-
3Gain-
GABRB1p.D389N
Missense
SNP
0.993
2--
GABRB2-
-
-
-
3Gain-
GABRB3-
-
-
-
3Gain-
GABRD-
-
-
-
3Gain-
GABRG2-
-
-
-
3Gain-
GABRG3-
-
-
-
3Gain-
GABRP-
-
-
-
3Gain-
GABRR1-
-
-
-
3Gain-
GABRR2-
-
-
-
3Gain-
GADD45A-
-
-
-
3Gain-
GADD45B-
-
-
-
1Loss-
GADL1-
-
-
-
1Loss-
GAL-
-
-
-
3Gain-
GAL3ST1-
-
-
-
3Gain-
GAL3ST3-
-
-
-
3Gain-
GAL3ST4-
-
-
-
3Gain-
GALE-
-
-
-
3Gain-
GALK1-
-
-
-
3Gain-
GALK2-
-
-
-
3Gain-
GALNT10-
-
-
-
3Gain-
GALNT11-
-
-
-
3Gain-
GALNT15-
-
-
-
1Loss-
GALNT17-
-
-
-
3Gain-
GALNT2-
-
-
-
3Gain-
GALNT8-
-
-
-
3Gain-
GALNTL5-
-
-
-
3Gain-
GALR2-
-
-
-
3Gain-
GALR3-
-
-
-
3Gain-
GAMT-
-
-
-
1Loss-
GANAB-
-
-
-
3Gain-
GANC-
-
-
-
3Gain-
GAPDH-
-
-
-
3Gain-
GAPT-
-
-
-
3Gain-
GARS-
-
-
-
3Gain-
GAS2p.E257K
Missense
SNP
0.271
2--
GAS2L1-
-
-
-
3Gain-
GAST-
-
-
-
3Gain-
GATA5-
-
-
-
5Amp-
GATAD1-
-
-
-
3Gain-
GATAD2B-
-
-
-
3Gain-
GATC-
-
-
-
3Gain-
GATM-
-
-
-
3Gain-
GBA-
-
-
-
3Gain-
GBP1p.R434C
Missense
SNP
0.517
3Gain-
GBP2-
-
-
-
3Gain-
GBP3-
-
-
-
3Gain-
GBP4-
-
-
-
3Gain-
GBP5p.R48C
Missense
SNP
0.496
3Gain-
GBP6-
-
-
-
3Gain-
GBP7-
-
-
-
3Gain-
GBX1-
-
-
-
3Gain-
GCAT-
-
-
-
3Gain-
GCC1-
-
-
-
3Gain-
GCC2-
-
-
-
1Loss-
GCGR-
-
-
-
3Gain-
GCHFR-
-
-
-
3Gain-
GCK-
-
-
-
3Gain-
GCLC-
-
-
-
3Gain-
GCLM-
-
-
-
3Gain-
GCM1-
-
-
-
3Gain-
GCM2-
-
-
-
3Gain-
GCN1-
-
-
-
3Gain-
GCNT2-
-
-
-
3Gain-
GCNT3-
-
-
-
3Gain-
GCNT4-
-
-
-
3Gain-
GCNT7-
-
-
-
5Amp-
GCOM1-
-
-
-
3Gain-
GCSAML-
-
-
-
3Gain-
GCSAML-AS1-
-
-
-
3Gain-
GDAP1-
-
-
-
3Gain-
GDAP1L1-
-
-
-
5Amp-
GDAP2-
-
-
-
3Gain-
GDF3-
-
-
-
3Gain-
GDF5-
-
-
-
5Amp-
GDF6-
-
-
-
3Gain-
GDF9-
-
-
-
3Gain-
GDPD1-
-
-
-
3Gain-
GDPD4-
-
-
-
3Gain-
GDPD5-
-
-
-
3Gain-
GDPGP1-
-
-
-
3Gain-
GEM-
-
-
-
3Gain-
GEMIN5-
-
-
-
3Gain-
GET4-
-
-
-
3Gain-
GFAP-
-
-
-
3Gain-
GFI1-
-
-
-
3Gain-
GFM2-
-
-
-
3Gain-
GFOD1-
-
-
-
3Gain-
GFPT2-
-
-
-
3Gain-
GFRA3-
-
-
-
3Gain-
GFRALp.K104N
p.A157T
Missense
Missense
SNP
SNP
0.274
0.680
3Gain-
GGA1-
-
-
-
3Gain-
GGA3-
-
-
-
3Gain-
GGCT-
-
-
-
3Gain-
GGH-
-
-
-
3Gain-
GGNBP2-
-
-
-
3Gain-
GGPS1-
-
-
-
3Gain-
GGT1-
-
-
-
3Gain-
GGT2-
-
-
-
3Gain-
GGT5-
-
-
-
3Gain-
GGT6p.G286E
Missense
SNP
1.000
2--
GGT7-
-
-
-
5Amp-
GGTLC2-
-
-
-
3Gain-
GH1-
-
-
-
3Gain-
GH2-
-
-
-
3Gain-
GHDC-
-
-
-
3Gain-
GHRH-
-
-
-
5Amp-
GHRHR-
-
-
-
3Gain-
GHRL-
-
-
-
1Loss-
GID8-
-
-
-
5Amp-
GIF-
-
-
-
3Gain-
GIGYF1-
-
-
-
3Gain-
GIMAP1-
-
-
-
3Gain-
GIMAP1-GIMAP5-
-
-
-
3Gain-
GIMAP2-
-
-
-
3Gain-
GIMAP4-
-
-
-
3Gain-
GIMAP5-
-
-
-
3Gain-
GIMAP6-
-
-
-
3Gain-
GIMAP7-
-
-
-
3Gain-
GIMAP8-
-
-
-
3Gain-
GIN1-
-
-
-
3Gain-
GIP-
-
-
-
3Gain-
GIPC2-
-
-
-
3Gain-
GIPC3-
-
-
-
1Loss-
GJA10-
-
-
-
3Gain-
GJA4-
-
-
-
3Gain-
GJA5-
-
-
-
3Gain-
GJA8-
-
-
-
3Gain-
GJA9-
-
-
-
3Gain-
GJA9-MYCBP-
-
-
-
3Gain-
GJB3-
-
-
-
3Gain-
GJB4-
-
-
-
3Gain-
GJB5-
-
-
-
3Gain-
GJB7-
-
-
-
3Gain-
GJC1-
-
-
-
3Gain-
GJC2-
-
-
-
3Gain-
GJC3-
-
-
-
3Gain-
GJD2-
-
-
-
3Gain-
GJD3-
-
-
-
3Gain-
GLB1-
-
-
-
1Loss-
GLB1L2-
-
-
-
1Loss-
GLB1L3-
-
-
-
1Loss-
GLCCI1-
-
-
-
3Gain-
GLCE-
-
-
-
3Gain-
GLDN-
-
-
-
3Gain-
GLI2-
-
-
-
1Loss-
GLI3-
-
-
-
3Gain-
GLIS1-
-
-
-
3Gain-
GLMN-
-
-
-
3Gain-
GLMP-
-
-
-
3Gain-
GLO1-
-
-
-
3Gain-
GLP1R-
-
-
-
3Gain-
GLRA1-
-
-
-
3Gain-
GLRX-
-
-
-
3Gain-
GLRX2-
-
-
-
3Gain-
GLT8D2-
-
-
-
3Gain-
GLUL-
-
-
-
3Gain-
GLYAT-
-
-
-
3Gain-
GLYATL1-
-
-
-
3Gain-
GLYATL1B-
-
-
-
3Gain-
GLYATL2p.S24F
Missense
SNP
0.372
3Gain-
GLYATL3-
-
-
-
3Gain-
GM2A-
-
-
-
3Gain-
GMCL2-
-
-
-
3Gain-
GMEB1-
-
-
-
3Gain-
GMEB2-
-
-
-
5Amp-
GMNN-
-
-
-
3Gain-
GMPR-
-
-
-
3Gain-
GNA11-
-
-
-
1Loss-
GNA12-
-
-
-
3Gain-
GNA13-
-
-
-
3Gain-
GNA15-
-
-
-
1Loss-
GNAI1-
-
-
-
3Gain-
GNAI3-
-
-
-
3Gain-
GNAS-
-
-
-
5Amp-
GNAT2-
-
-
-
3Gain-
GNAT3-
-
-
-
3Gain-
GNAZ-
-
-
-
3Gain-
GNB1-
-
-
-
3Gain-
GNB1L-
-
-
-
3Gain-
GNB2-
-
-
-
3Gain-
GNB3-
-
-
-
3Gain-
GNB5-
-
-
-
3Gain-
GNG11-
-
-
-
3Gain-
GNG12-
-
-
-
3Gain-
GNG3-
-
-
-
3Gain-
GNG4-
-
-
-
3Gain-
GNG5-
-
-
-
3Gain-
GNG7-
-
-
-
1Loss-
GNGT1-
-
-
-
3Gain-
GNGT2-
-
-
-
3Gain-
GNL2-
-
-
-
3Gain-
GNMT-
-
-
-
3Gain-
GNPAT-
-
-
-
3Gain-
GNPDA1-
-
-
-
3Gain-
GNPTAB-
-
-
-
3Gain-
GOLGA6B-
-
-
-
3Gain-
GOLGA6L2-
-
-
-
3Gain-
GOLGA6L7-
-
-
-
3Gain-
GOLGA8A-
-
-
-
3Gain-
GOLGA8B-
-
-
-
3Gain-
GOLGA8F-
-
-
-
3Gain-
GOLGA8G-
-
-
-
3Gain-
GOLGA8R-
-
-
-
1Loss-
GOLGA8S-
-
-
-
3Gain-
GOLPH3L-
-
-
-
3Gain-
GOLT1A-
-
-
-
3Gain-
GOLT1B-
-
-
-
3Gain-
GON4L-
-
-
-
3Gain-
GORAB-
-
-
-
3Gain-
GOSR2-
-
-
-
3Gain-
GP1BB-
-
-
-
3Gain-
GPA33-
-
-
-
3Gain-
GPAT2-
-
-
-
1Loss-
GPATCH2-
-
-
-
3Gain-
GPATCH3-
-
-
-
3Gain-
GPATCH4-
-
-
-
3Gain-
GPATCH8-
-
-
-
3Gain-
GPBP1-
-
-
-
3Gain-
GPBP1L1-
-
-
-
3Gain-
GPC2-
-
-
-
3Gain-
GPD1L-
-
-
-
1Loss-
GPER1-
-
-
-
3Gain-
GPHA2-
-
-
-
3Gain-
GPLD1-
-
-
-
3Gain-
GPN2-
-
-
-
3Gain-
GPN3-
-
-
-
3Gain-
GPNMB-
-
-
-
3Gain-
GPR137-
-
-
-
3Gain-
GPR137B-
-
-
-
3Gain-
GPR139p.R217C
Missense
SNP
0.578
2--
GPR141-
-
-
-
3Gain-
GPR142-
-
-
-
3Gain-
GPR146-
-
-
-
3Gain-
GPR148-
-
-
-
1Loss-
GPR150-
-
-
-
3Gain-
GPR151-
-
-
-
3Gain-
GPR152-
-
-
-
3Gain-
GPR153-
-
-
-
3Gain-
GPR157-
-
-
-
3Gain-
GPR161-
-
-
-
3Gain-
GPR162-
-
-
-
3Gain-
GPR17-
-
-
-
1Loss-
GPR174p.H82Y
Missense
SNP
1.000
NDND-
GPR176-
-
-
-
3Gain-
GPR179-
-
-
-
3Gain-
GPR19-
-
-
-
3Gain-
GPR22-
-
-
-
3Gain-
GPR25-
-
-
-
3Gain-
GPR3-
-
-
-
3Gain-
GPR37-
-
-
-
3Gain-
GPR37L1-
-
-
-
3Gain-
GPR39-
-
-
-
1Loss-
GPR45-
-
-
-
1Loss-
GPR52-
-
-
-
3Gain-
GPR61-
-
-
-
3Gain-
GPR83-
-
-
-
3Gain-
GPR85-
-
-
-
3Gain-
GPR88-
-
-
-
3Gain-
GPR89A-
-
-
-
3Gain-
GPR89B-
-
-
-
3Gain-
GPRC5A-
-
-
-
3Gain-
GPRC5C-
-
-
-
3Gain-
GPRC5D-
-
-
-
3Gain-
GPRIN1p.P586S
Missense
SNP
0.314
3Gain-
GPS1-
-
-
-
3Gain-
GPSM2-
-
-
-
3Gain-
GPSM3-
-
-
-
3Gain-
GPX3-
-
-
-
3Gain-
GPX4-
-
-
-
1Loss-
GPX7-
-
-
-
3Gain-
GPX8-
-
-
-
3Gain-
GRAMD1B-
-
-
-
1Loss-
GRAMD2A-
-
-
-
3Gain-
GRAMD2B-
-
-
-
3Gain-
GRAMD4-
-
-
-
3Gain-
GRAP2-
-
-
-
3Gain-
GRB10-
-
-
-
3Gain-
GRB2-
-
-
-
3Gain-
GRB7-
-
-
-
3Gain-
GREM1-
-
-
-
3Gain-
GREM2-
-
-
-
3Gain-
GRHL2-
-
-
-
3Gain-
GRHL3-
-
-
-
3Gain-
GRIA1-
-
-
-
3Gain-
GRIA4-
-
-
-
1Loss-
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIK3-
-
-
-
3Gain-
GRIK4-
-
-
-
1Loss-
GRIN2B-
-
-
-
3Gain-
GRIN2C-
-
-
-
3Gain-
GRIN3B-
-
-
-
1Loss-
GRIP1p.R167*
Nonsense
SNP
1.000
2--
GRIP2-
-
-
-
1Loss-
GRK2-
-
-
-
3Gain-
GRK3-
-
-
-
3Gain-
GRK6-
-
-
-
3Gain-
GRM1p.G43E
Missense
SNP
0.417
2--
GRM3p.G18R
p.E231K
Missense
Missense
SNP
SNP
0.467
0.476
3Gain-
GRM4-
-
-
-
3Gain-
GRM5-
-
-
-
3Gain-
GRM6p.W213*
Nonsense
SNP
0.649
3Gain-
GRM7-
-
-
-
1Loss-
GRM8p.E463K
p.E70K
Missense
Missense
SNP
SNP
0.547
0.500
3Gain-
GRN-
-
-
-
3Gain-
GRPEL2-
-
-
-
3Gain-
GRXCR1p.R188Q
Missense
SNP
0.996
2--
GRXCR2-
-
-
-
3Gain-
GSAP-
-
-
-
3Gain-
GSC2-
-
-
-
3Gain-
GSDMA-
-
-
-
3Gain-
GSDMB-
-
-
-
3Gain-
GSDME-
-
-
-
3Gain-
GSG1-
-
-
-
3Gain-
GSS-
-
-
-
5Amp-
GSTA1-
-
-
-
3Gain-
GSTA2-
-
-
-
3Gain-
GSTA3-
-
-
-
3Gain-
GSTA4-
-
-
-
3Gain-
GSTA5-
-
-
-
3Gain-
GSTK1-
-
-
-
3Gain-
GSTM2-
-
-
-
3Gain-
GSTM3-
-
-
-
3Gain-
GSTM4-
-
-
-
3Gain-
GSTM5-
-
-
-
3Gain-
GSTP1-
-
-
-
3Gain-
GSTT2-
-
-
-
3Gain-
GSTT2B-
-
-
-
3Gain-
GSTT4-
-
-
-
3Gain-
GTF2A2-
-
-
-
3Gain-
GTF2B-
-
-
-
3Gain-
GTF2E1p.S333F
Missense
SNP
0.442
2--
GTF2H2-
-
-
-
3Gain-
GTF2H2C-
-
-
-
3Gain-
GTF2I-
-
-
-
3Gain-
GTF2IRD1-
-
-
-
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTPBP1-
-
-
-
3Gain-
GTPBP10-
-
-
-
3Gain-
GTPBP2-
-
-
-
3Gain-
GTSE1-
-
-
-
3Gain-
GTSF1L-
-
-
-
5Amp-
GUCA1A-
-
-
-
3Gain-
GUCA1B-
-
-
-
3Gain-
GUCA2A-
-
-
-
3Gain-
GUCA2B-
-
-
-
3Gain-
GUCD1-
-
-
-
3Gain-
GUCY1A2-
-
-
-
1Loss-
GUCY2C-
-
-
-
3Gain-
GUK1-
-
-
-
3Gain-
GUSB-
-
-
-
3Gain-
GVQW3-
-
-
-
3Gain-
GXYLT2-
-
-
-
2-GXYLT2--TNIP1
GYPC-
-
-
-
1Loss-
GYS2-
-
-
-
3Gain-
GZMA-
-
-
-
3Gain-
GZMK-
-
-
-
3Gain-
GZMM-
-
-
-
1Loss-
H1F0-
-
-
-
3Gain-
H2AFJ-
-
-
-
3Gain-
H2AFV-
-
-
-
3Gain-
H2AFX-
-
-
-
1Loss-
H2AFY-
-
-
-
3Gain-
H3F3A-
-
-
-
3Gain-
H3F3B-
-
-
-
3Gain-
H3F3C-
-
-
-
3Gain-
H6PD-
-
-
-
3Gain-
HAAOp.R175Q
Missense
SNP
0.558
2--
HACD3-
-
-
-
3Gain-
HACL1-
-
-
-
1Loss-
HAND1-
-
-
-
3Gain-
HAO2-
-
-
-
3Gain-
HAP1-
-
-
-
3Gain-
HAPLN1-
-
-
-
3Gain-
HAPLN2-
-
-
-
3Gain-
HAPLN3-
-
-
-
3Gain-
HARS-
-
-
-
3Gain-
HARS2-
-
-
-
3Gain-
HAS1-
-
-
-
1Loss-
HAUS2-
-
-
-
3Gain-
HAVCR1-
-
-
-
3Gain-
HAVCR2-
-
-
-
3Gain-
HAX1-
-
-
-
3Gain-
HBEGF-
-
-
-
3Gain-
HBP1-
-
-
-
3Gain-
HCAR1-
-
-
-
3Gain-
HCAR2-
-
-
-
3Gain-
HCAR3-
-
-
-
3Gain-
HCFC2-
-
-
-
3Gain-
HCK-
-
-
-
5Amp-
HCN2-
-
-
-
1Loss-
HCN3-
-
-
-
3Gain-
HCN4-
-
-
-
3Gain-
HCRT-
-
-
-
3Gain-
HCRTR1-
-
-
-
3Gain-
HCRTR2-
-
-
-
3Gain-
HDAC1-
-
-
-
3Gain-
HDAC10-
-
-
-
3Gain-
HDAC11-
-
-
-
1Loss-
HDAC3-
-
-
-
3Gain-
HDAC5-
-
-
-
3Gain-
HDAC9-
-
-
-
3Gain-
HDC-
-
-
-
3Gain-
HDDC3-
-
-
-
3Gain-
HDGF-
-
-
-
3Gain-
HDGFL1-
-
-
-
3Gain-
HDGFL2-
-
-
-
1Loss-
HDGFL3-
-
-
-
3Gain-
HDHD5-
-
-
-
3Gain-
HEATR1-
-
-
-
3Gain-
HEATR5Bp.H1630Y
Missense
SNP
0.662
2--
HEATR6-
-
-
-
3Gain-
HEBP1-
-
-
-
3Gain-
HECTD3-
-
-
-
3Gain-
HECTD4-
-
-
-
3Gain-
HECW1-
-
-
-
3Gain-
HELZ-
-
-
-
3Gain-
HELZ2-
-
-
-
5Amp-
HENMT1-
-
-
-
3Gain-
HEPACAM-
-
-
-
1Loss-
HEPACAM2-
-
-
-
3Gain-
HEPHp.E992K
Missense
SNP
1.000
NDND-
HEPHL1-
-
-
-
3Gain-
HEPN1-
-
-
-
1Loss-
HERC1-
-
-
-
3Gain-
HERC2-
-
-
-
3Gain-
HERPUD2-
-
-
-
3Gain-
HES2-
-
-
-
3Gain-
HES3-
-
-
-
3Gain-
HES4-
-
-
-
3Gain-
HES5-
-
-
-
3Gain-
HEXA-
-
-
-
3Gain-
HEXB-
-
-
-
3Gain-
HEXDC-
-
-
-
3Gain-
HEXIM1-
-
-
-
3Gain-
HEXIM2-
-
-
-
3Gain-
HEY1-
-
-
-
3Gain-
HEYL-
-
-
-
3Gain-
HFM1-
-
-
-
3Gain-
HGFp.E199K
Missense
SNP
0.541
3Gain-
HGS-
-
-
-
3Gain-
HHAT-
-
-
-
3Gain-
HHIPL1-
-
-
-
1Loss-
HHIPL2-
-
-
-
3Gain-
HHLA3-
-
-
-
3Gain-
HIBADH-
-
-
-
3Gain-
HIC2-
-
-
-
3Gain-
HID1-
-
-
-
3Gain-
HIGD1B-
-
-
-
3Gain-
HIGD2A-
-
-
-
3Gain-
HIGD2B-
-
-
-
3Gain-
HIKESHI-
-
-
-
3Gain-
HILPDA-
-
-
-
3Gain-
HINFP-
-
-
-
1Loss-
HINT1-
-
-
-
3Gain-
HIP1-
-
-
-
3Gain-
HIP1R-
-
-
-
3Gain-
HIPK1-
-
-
-
3Gain-
HIPK2-
-
-
-
3Gain-
HIRA-
-
-
-
3GainRRBP1--HIRA
HIST1H2AA-
-
-
-
3Gain-
HIST1H2BA-
-
-
-
3Gain-
HIST1H3Bp.H114Y
Missense
SNP
0.728
2--
HIST2H2AA3-
-
-
-
3Gain-
HIST2H2AA4-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
3Gain-
HIST2H2BE-
-
-
-
3Gain-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
3Gain-
HIST2H3C-
-
-
-
3Gain-
HIST2H3D-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
3Gain-
HIST2H4A-
-
-
-
3Gain-
HIST2H4B-
-
-
-
3Gain-
HIST3H2A-
-
-
-
3Gain-
HIST3H2BB-
-
-
-
3Gain-
HIST3H3p.E98K
Missense
SNP
0.603
3Gain-
HIST4H4-
-
-
-
3Gain-
HIVEP1-
-
-
-
3Gain-
HIVEP3-
-
-
-
3Gain-
HJV-
-
-
-
3Gain-
HK3-
-
-
-
3Gain-
HLA-DMA-
-
-
-
3Gain-
HLA-DMB-
-
-
-
3Gain-
HLA-DOA-
-
-
-
3Gain-
HLA-DOB-
-
-
-
3Gain-
HLA-DPA1-
-
-
-
3Gain-
HLA-DPB1-
-
-
-
3Gain-
HLA-DQA1-
-
-
-
3Gain-
HLA-DQA2-
-
-
-
3Gain-
HLA-DQB1-
-
-
-
3Gain-
HLA-DQB2-
-
-
-
3Gain-
HLA-DRA-
-
-
-
3Gain-
HLA-DRB1-
-
-
-
3Gain-
HLA-DRB5-
-
-
-
3Gain-
HLF-
-
-
-
3Gain-
HLX-
-
-
-
3Gain-
HM13-
-
-
-
5Amp-
HMBS-
-
-
-
1Loss-
HMCN1-
-
-
-
3Gain-
HMG20A-
-
-
-
3Gain-
HMG20B-
-
-
-
1Loss-
HMGA1-
-
-
-
3Gain-
HMGB4-
-
-
-
3Gain-
HMGCLp.P99S
Missense
SNP
0.472
3Gain-
HMGCLL1-
-
-
-
3Gain-
HMGCR-
-
-
-
3Gain-
HMGCS2-
-
-
-
3Gain-
HMGN2-
-
-
-
3Gain-
HMGN3-
-
-
-
3Gain-
HMGXB3-
-
-
-
3Gain-
HMGXB4-
-
-
-
3Gain-
HMHB1-
-
-
-
3Gain-
HMMR-
-
-
-
3Gain-
HMOX1-
-
-
-
3Gain-
HNF1A-
-
-
-
3Gain-
HNF1B-
-
-
-
3Gain-
HNF4A-
-
-
-
5Amp-
HNF4G-
-
-
-
3Gain-
HNRNPA0-
-
-
-
3Gain-
HNRNPA2B1-
-
-
-
3Gain-
HNRNPAB-
-
-
-
3Gain-
HNRNPCL1-
-
-
-
3Gain-
HNRNPCL2-
-
-
-
3Gain-
HNRNPCL3-
-
-
-
3Gain-
HNRNPCL4-
-
-
-
3Gain-
HNRNPH1-
-
-
-
3Gain-
HNRNPR-
-
-
-
3Gain-
HNRNPU-
-
-
-
3Gain-
HNRNPUL2-
-
-
-
3Gain-
HNRNPUL2-BSCL2-
-
-
-
3Gain-
HOMER1-
-
-
-
3Gain-
HOMER2-
-
-
-
3Gain-
HOMEZ-
-
-
-
1Loss-
HOOK1-
-
-
-
3Gain-
HORMAD1-
-
-
-
3Gain-
HORMAD2-
-
-
-
3Gain-
HOXA1-
-
-
-
3Gain-
HOXA10-
-
-
-
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13-
-
-
-
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3-
-
-
-
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HOXB1-
-
-
-
3Gain-
HOXB13-
-
-
-
3Gain-
HOXB2-
-
-
-
3Gain-
HOXB3-
-
-
-
3Gain-
HOXB4-
-
-
-
3Gain-
HOXB5-
-
-
-
3Gain-
HOXB6-
-
-
-
3Gain-
HOXB7-
-
-
-
3Gain-
HOXB8-
-
-
-
3Gain-
HOXB9-
-
-
-
3Gain-
HP1BP3-
-
-
-
3Gain-
HPCA-
-
-
-
3Gain-
HPCAL4-
-
-
-
3Gain-
HPD-
-
-
-
3Gain-
HPDL-
-
-
-
3Gain-
HPS4-
-
-
-
3Gain-
HRASLS2-
-
-
-
3Gain-
HRASLS5-
-
-
-
3Gain-
HRCp.G230R
Missense
SNP
0.439
2--
HRH1-
-
-
-
1Loss-
HRH2-
-
-
-
3Gain-
HRH3-
-
-
-
5Amp-
HRK-
-
-
-
3Gain-
HRNR-
-
-
-
3Gain-
HS2ST1p.S172C
Missense
SNP
0.455
3Gain-
HS3ST2p.I225S
Missense
SNP
0.517
2--
HS3ST4p.D363N
Missense
SNP
0.412
2--
HS3ST5p.D254N
Missense
SNP
0.404
2--
HS6ST1-
-
-
-
1Loss-
HSCB-
-
-
-
3Gain-
HSD11B1-
-
-
-
3Gain-
HSD17B1-
-
-
-
3Gain-
HSD17B4-
-
-
-
3Gain-
HSD17B7-
-
-
-
3Gain-
HSD17B8-
-
-
-
3Gain-
HSD3B1-
-
-
-
3Gain-
HSD3B2-
-
-
-
3Gain-
HSF5-
-
-
-
3Gain-
HSP90AA1-
-
-
-
1Loss-
HSP90AB1-
-
-
-
3Gain-
HSP90B1-
-
-
-
3Gain-
HSPA4-
-
-
-
3Gain-
HSPA6-
-
-
-
3Gain-
HSPA8-
-
-
-
1Loss-
HSPA9-
-
-
-
3Gain-
HSPB1-
-
-
-
3Gain-
HSPB11-
-
-
-
3Gain-
HSPB2-
-
-
-
1Loss-
HSPB2-C11orf52-
-
-
-
1Loss-
HSPB3-
-
-
-
3Gain-
HSPB7-
-
-
-
3Gain-
HSPB8-
-
-
-
3Gain-
HSPB9-
-
-
-
3Gain-
HSPG2-
-
-
-
3Gain-
HTATSF1p.E455K
Missense
SNP
0.492
NDND-
HTR1A-
-
-
-
3Gain-
HTR1B-
-
-
-
3Gain-
HTR1D-
-
-
-
3Gain-
HTR1E-
-
-
-
3Gain-
HTR3A-
-
-
-
1Loss-
HTR3B-
-
-
-
1Loss-
HTR3Cp.Q83*
Nonsense
SNP
0.500
2--
HTR4p.S70L
Missense
SNP
0.711
3Gain-
HTR5A-
-
-
-
3Gain-
HTR6-
-
-
-
3Gain-
HUS1-
-
-
-
3Gain-
HVCN1-
-
-
-
3Gain-
HYAL4-
-
-
-
3Gain-
HYDINp.E2557K
p.E54K
Missense
Missense
SNP
SNP
0.513
0.500
2--
HYI-
-
-
-
3Gain-
HYKK-
-
-
-
3Gain-
HYLS1-
-
-
-
1Loss-
HYOU1-
-
-
-
1Loss-
HYPK-
-
-
-
3Gain-
IAPP-
-
-
-
3Gain-
IARS2-
-
-
-
3Gain-
IBA57-
-
-
-
3Gain-
IBTK-
-
-
-
3Gain-
ICA1-
-
-
-
3Gain-
ICAM2-
-
-
-
3Gain-
ICE2-
-
-
-
3Gain-
ICK-
-
-
-
3Gain-
ICMT-
-
-
-
3Gain-
ID1-
-
-
-
5Amp-
ID3-
-
-
-
3Gain-
ID4-
-
-
-
3Gain-
IDH2-
-
-
-
3Gain-
IDH3A-
-
-
-
3Gain-
IER5-
-
-
-
3Gain-
IFFO1-
-
-
-
3Gain-
IFFO2-
-
-
-
3Gain-
IFI16-
-
-
-
3Gain-
IFI35-
-
-
-
3Gain-
IFI44-
-
-
-
3Gain-
IFI44L-
-
-
-
3Gain-
IFI6-
-
-
-
3Gain-
IFNLR1-
-
-
-
3Gain-
IFRD1-
-
-
-
3Gain-
IFT22-
-
-
-
3Gain-
IFT27-
-
-
-
3Gain-
IFT46-
-
-
-
1Loss-
IFT52-
-
-
-
5Amp-
IFT81-
-
-
-
3Gain-
IGDCC3-
-
-
-
3Gain-
IGDCC4-
-
-
-
3Gain-
IGF1-
-
-
-
3Gain-
IGF1R-
-
-
-
3Gain-
IGF2BP1-
-
-
-
3Gain-
IGF2BP3-
-
-
-
3Gain-
IGFALSp.E637K
Missense
SNP
0.493
2--
IGFBP1-
-
-
-
3Gain-
IGFBP3-
-
-
-
3Gain-
IGFBP4-
-
-
-
3Gain-
IGFN1-
-
-
-
3Gain-
IGHMBP2-
-
-
-
3Gain-
IGIP-
-
-
-
3Gain-
IGKV1-33-
-
-
-
1Loss-
IGKV1D-33p.S9F
Missense
SNP
0.440
1Loss-
IGKV2-40-
-
-
-
1Loss-
IGKV2D-28-
-
-
-
1Loss-
IGKV2D-29-
-
-
-
1Loss-
IGKV2D-40-
-
-
-
1Loss-
IGLL1-
-
-
-
3Gain-
IGLL5-
-
-
-
3Gain-
IGLON5-
-
-
-
1Loss-
IGLV10-54-
-
-
-
3Gain-
IGSF21-
-
-
-
3Gain-
IGSF3-
-
-
-
3Gain-
IGSF8-
-
-
-
3Gain-
IGSF9-
-
-
-
3Gain-
IGSF9B-
-
-
-
1Loss-
IK-
-
-
-
3Gain-
IKBKE-
-
-
-
3Gain-
IKZF1-
-
-
-
3Gain-
IKZF2p.H315Y
Missense
SNP
0.407
2--
IKZF3-
-
-
-
3Gain-
IL10-
-
-
-
3Gain-
IL10RA-
-
-
-
1Loss-
IL12B-
-
-
-
3Gain-
IL12RB2-
-
-
-
3Gain-
IL13-
-
-
-
3Gain-
IL13RA2p.E291K
Missense
SNP
0.377
NDND-
IL16-
-
-
-
3Gain-
IL17A-
-
-
-
3Gain-
IL17B-
-
-
-
3Gain-
IL17F-
-
-
-
3Gain-
IL17RA-
-
-
-
3Gain-
IL17RC-
-
-
-
1Loss-
IL17RE-
-
-
-
1Loss-
IL17REL-
-
-
-
3Gain-
IL18-
-
-
-
1Loss-
IL18BP-
-
-
-
3Gain-
IL18R1-
-
-
-
1Loss-
IL18RAPp.P102S
Missense
SNP
0.528
1Loss-
IL19-
-
-
-
3Gain-
IL1A-
-
-
-
1Loss-
IL1B-
-
-
-
1Loss-
IL1F10-
-
-
-
1Loss-
IL1R1p.E220K
Missense
SNP
0.414
1Loss-
IL1R2-
-
-
-
1Loss-
IL1RL1p.E294K
Missense
SNP
0.533
1Loss-
IL1RL2-
-
-
-
1Loss-
IL1RN-
-
-
-
1Loss-
IL20-
-
-
-
3Gain-
IL22RA1-
-
-
-
3Gain-
IL23R-
-
-
-
3Gain-
IL24-
-
-
-
3Gain-
IL25-
-
-
-
1Loss-
IL2RB-
-
-
-
3Gain-
IL3-
-
-
-
3Gain-
IL31-
-
-
-
3Gain-
IL31RA-
-
-
-
3Gain-
IL36A-
-
-
-
1Loss-
IL36B-
-
-
-
1Loss-
IL36G-
-
-
-
1Loss-
IL36RN-
-
-
-
1Loss-
IL37-
-
-
-
1Loss-
IL4-
-
-
-
3Gain-
IL5-
-
-
-
3Gain-
IL5RA-
-
-
-
1Loss-
IL6-
-
-
-
3Gain-
IL6R-
-
-
-
3Gain-
IL6ST-
-
-
-
3Gain-
IL7p.D46N
Missense
SNP
0.655
3Gain-
IL9-
-
-
-
3Gain-
ILDR2-
-
-
-
3Gain-
ILF2-
-
-
-
3Gain-
IMMP2L-
-
-
-
3Gain-
IMP3-
-
-
-
3Gain-
IMP4-
-
-
-
1Loss-
IMPA1-
-
-
-
3Gain-
IMPAD1-
-
-
-
3Gain-
IMPDH1-
-
-
-
3Gain-
IMPG1p.G141E
Missense
SNP
0.683
3Gain-
IMPG2p.G369E
Missense
SNP
0.488
2--
INAVA-
-
-
-
3Gain-
INCENP-
-
-
-
3Gain-
INF2-
-
-
-
1Loss-
ING3-
-
-
-
3Gain-
ING4-
-
-
-
3Gain-
INHBA-
-
-
-
3Gain-
INHBB-
-
-
-
1Loss-
INKA2-
-
-
-
3Gain-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INO80-
-
-
-
3Gain-
INPP4A-
-
-
-
1Loss-
INPP5B-
-
-
-
3Gain-
INPP5J-
-
-
-
3Gain-
INPPL1p.S857F
Missense
SNP
0.327
3Gain-
INSIG1-
-
-
-
3Gain-
INSIG2-
-
-
-
1Loss-
INSL5-
-
-
-
3Gain-
INSRR-
-
-
-
3Gain-
INSYN1-
-
-
-
3Gain-
INSYN2B-
-
-
-
3Gain-
INTS1-
-
-
-
3Gain-
INTS11-
-
-
-
3Gain-
INTS13-
-
-
-
3Gain-
INTS14-
-
-
-
3Gain-
INTS2-
-
-
-
3Gain-
INTS3-
-
-
-
3Gain-
INTS4-
-
-
-
3Gain-
INTS5-
-
-
-
3Gain-
INTS7-
-
-
-
3Gain-
INTS8-
-
-
-
3Gain-
IP6K3-
-
-
-
3Gain-
IPO11-
-
-
-
3Gain-
IPO13-
-
-
-
3Gain-
IPO8-
-
-
-
3Gain-
IPO9-
-
-
-
3Gain-
IPP-
-
-
-
3Gain-
IQCA1p.R539C
Missense
SNP
0.489
2--
IQCC-
-
-
-
3Gain-
IQCD-
-
-
-
3Gain-
IQCE-
-
-
-
3Gain-
IQCH-
-
-
-
3Gain-
IQGAP1-
-
-
-
3Gain-
IQGAP2-
-
-
-
3Gain-
IQGAP3-
-
-
-
3Gain-
IQSEC1-
-
-
-
1Loss-
IQSEC3-
-
-
-
3Gain-
IQUB-
-
-
-
3Gain-
IRAK1BP1-
-
-
-
3Gain-
IRAK2-
-
-
-
1Loss-
IREB2-
-
-
-
3Gain-
IRF1-
-
-
-
3Gain-
IRF2BP2-
-
-
-
3Gain-
IRF5-
-
-
-
3Gain-
IRF6-
-
-
-
3Gain-
IRGC-
-
-
-
1Loss-
IRGM-
-
-
-
3Gain-
IRGQ-
-
-
-
1Loss-
ISG15-
-
-
-
3Gain-
ISG20-
-
-
-
3Gain-
ISG20L2-
-
-
-
3Gain-
ISL1-
-
-
-
5Amp-
ISL2-
-
-
-
3Gain-
ISLR-
-
-
-
3Gain-
ISLR2-
-
-
-
3Gain-
ISOC1-
-
-
-
3Gain-
ISPD-
-
-
-
3Gain-
ISX-
-
-
-
3Gain-
ITCH-
-
-
-
5Amp-
ITFG2-
-
-
-
3Gain-
ITGA1-
-
-
-
3Gain-
ITGA10-
-
-
-
3Gain-
ITGA11-
-
-
-
3Gain-
ITGA2p.D608N
Missense
SNP
0.677
3Gain-
ITGA2B-
-
-
-
3Gain-
ITGA3-
-
-
-
3Gain-
ITGADp.A432V
Missense
SNP
0.342
2--
ITGB3-
-
-
-
3Gain-
ITGB3BP-
-
-
-
3Gain-
ITGB4-
-
-
-
3Gain-
ITGB8-
-
-
-
3Gain-
ITIH5p.S27F
Missense
SNP
0.627
2--
ITK-
-
-
-
3Gain-
ITLN1-
-
-
-
3Gain-
ITLN2-
-
-
-
3Gain-
ITPKA-
-
-
-
3Gain-
ITPKB-
-
-
-
3Gain-
ITPR1-
-
-
-
1Loss-
ITPR2-
-
-
-
3Gain-
ITPR3-
-
-
-
3Gain-
ITPRID1-
-
-
-
3Gain-
ITPRIPL1-
-
-
-
1Loss-
ITSN2p.S615Y
Missense
SNP
0.524
2--
IVD-
-
-
-
3Gain-
IVL-
-
-
-
3Gain-
IVNS1ABP-
-
-
-
3Gain-
IWS1-
-
-
-
1Loss-
IZUMO1R-
-
-
-
3Gain-
IZUMO4-
-
-
-
1Loss-
JADE2-
-
-
-
3Gain-
JADE3p.S817F
Missense
SNP
1.000
NDND-
JAGN1-
-
-
-
1Loss-
JAK1-
-
-
-
3Gain-
JAKMIP1p.S382F
Missense
SNP
1.000
2--
JAKMIP2-
-
-
-
3Gain-
JAM3-
-
-
-
1Loss-
JAML-
-
-
-
1Loss-
JARID2-
-
-
-
3Gain-
JAZF1-
-
-
-
3Gain-
JHY-
-
-
-
1Loss-
JMJD4-
-
-
-
3Gain-
JMJD6-
-
-
-
3Gain-
JMJD7-
-
-
-
3Gain-
JMJD7-PLA2G4B-
-
-
-
3Gain-
JMY-
-
-
-
3Gain-
JOSD1-
-
-
-
3Gain-
JPH1-
-
-
-
3Gain-
JPH2-
-
-
-
5Amp-
JPH4-
-
-
-
1Loss-
JPT1-
-
-
-
3Gain-
JRKL-
-
-
-
3Gain-
JSRP1-
-
-
-
1Loss-
JTB-
-
-
-
3Gain-
JUN-
-
-
-
3Gain-
JUP-
-
-
-
3Gain-
KAAG1-
-
-
-
3Gain-
KANK4-
-
-
-
3Gain-
KANSL1-
-
-
-
3Gain-
KANSL2p.P358S
Missense
SNP
0.990
2--
KANSL3p.S149F
Missense
SNP
0.522
1Loss-
KAT2A-
-
-
-
3Gain-
KAT2B-
-
-
-
1Loss-
KAT5-
-
-
-
3Gain-
KAT7-
-
-
-
3Gain-
KATNBL1-
-
-
-
3Gain-
KAZN-
-
-
-
3Gain-
KBTBD13-
-
-
-
3Gain-
KBTBD2-
-
-
-
3Gain-
KBTBD3-
-
-
-
1Loss-
KBTBD8p.Q256*
Nonsense
SNP
0.460
2--
KCNA1-
-
-
-
3Gain-
KCNA10-
-
-
-
3Gain-
KCNA2-
-
-
-
3Gain-
KCNA3-
-
-
-
3Gain-
KCNA5-
-
-
-
3Gain-
KCNA6-
-
-
-
3Gain-
KCNAB2-
-
-
-
3Gain-
KCNB1-
-
-
-
5Amp-
KCNB2p.R91W
p.S774L
Missense
Missense
SNP
SNP
0.368
0.614
3Gain-
KCNC4-
-
-
-
3Gain-
KCND2p.E492K
Missense
SNP
0.519
3Gain-
KCND3p.G371E
Missense
SNP
0.481
3Gain-
KCNE3-
-
-
-
3Gain-
KCNG1-
-
-
-
5Amp-
KCNH1-
-
-
-
3Gain-
KCNH2-
-
-
-
3Gain-
KCNH4-
-
-
-
3Gain-
KCNH6-
-
-
-
3Gain-
KCNH8-
-
-
-
1Loss-
KCNIP1-
-
-
-
3Gain-
KCNIP3-
-
-
-
1Loss-
KCNJ1-
-
-
-
1Loss-
KCNJ10-
-
-
-
3Gain-
KCNJ16-
-
-
-
3Gain-
KCNJ2-
-
-
-
3Gain-
KCNJ4-
-
-
-
3Gain-
KCNJ5-
-
-
-
1Loss-
KCNJ8p.M147I
Missense
SNP
0.300
3Gain-
KCNJ9-
-
-
-
3Gain-
KCNK1-
-
-
-
3Gain-
KCNK15-
-
-
-
5Amp-
KCNK16-
-
-
-
3Gain-
KCNK17-
-
-
-
3Gain-
KCNK2-
-
-
-
3Gain-
KCNK4-
-
-
-
3Gain-
KCNK5-
-
-
-
3Gain-
KCNK7-
-
-
-
3Gain-
KCNMB1-
-
-
-
3Gain-
KCNN2-
-
-
-
3Gain-
KCNN3-
-
-
-
3Gain-
KCNN4-
-
-
-
1Loss-
KCNQ2-
-
-
-
5Amp-
KCNQ4-
-
-
-
3Gain-
KCNQ5-
-
-
-
3Gain-
KCNS1-
-
-
-
5Amp-
KCNS2-
-
-
-
3Gain-
KCNT1p.M354I
Missense
SNP
0.398
2--
KCNT2-
-
-
-
3Gain-
KCNU1p.P868S
Missense
SNP
0.297
2--
KCNV1-
-
-
-
3Gain-
KCP-
-
-
-
3Gain-
KCTD14-
-
-
-
3Gain-
KCTD16p.R410W
Missense
SNP
0.393
3Gain-
KCTD17-
-
-
-
3Gain-
KCTD18p.R158K
Missense
SNP
0.458
2--
KCTD2-
-
-
-
3Gain-
KCTD20-
-
-
-
3Gain-
KCTD21-
-
-
-
3Gain-
KCTD3-
-
-
-
3Gain-
KCTD7-
-
-
-
3Gain-
KDELC2-
-
-
-
1Loss-
KDELR2-
-
-
-
3Gain-
KDELR3-
-
-
-
3Gain-
KDF1-
-
-
-
3Gain-
KDM1A-
-
-
-
3Gain-
KDM1B-
-
-
-
3Gain-
KDM2A-
-
-
-
3Gain-
KDM2B-
-
-
-
3Gain-
KDM3Bp.P1534S
Missense
SNP
0.324
3Gain-
KDM4A-
-
-
-
3Gain-
KDM4B-
-
-
-
1Loss-
KDM4D-
-
-
-
3Gain-
KDM4E-
-
-
-
3Gain-
KDM4F-
-
-
-
3Gain-
KDM5A-
-
-
-
3Gain-
KDM5B-
-
-
-
3Gain-
KDM7A-
-
-
-
3Gain-
KEL-
-
-
-
3Gain-
KHDC1-
-
-
-
3Gain-
KHDC1L-
-
-
-
3Gain-
KHDC3L-
-
-
-
3Gain-
KHDC4-
-
-
-
3Gain-
KHDRBS1-
-
-
-
3Gain-
KHDRBS2-
-
-
-
3Gain-
KIAA0040-
-
-
-
3Gain-
KIAA0319-
-
-
-
3Gain-
KIAA0319L-
-
-
-
3Gain-
KIAA0825-
-
-
-
3Gain-
KIAA0895-
-
-
-
3Gain-
KIAA0930-
-
-
-
3Gain-
KIAA1024-
-
-
-
3Gain-
KIAA1024L-
-
-
-
3Gain-
KIAA1107p.G385E
Missense
SNP
0.492
NDND-
KIAA1147-
-
-
-
3Gain-
KIAA1191-
-
-
-
3Gain-
KIAA1211L-
-
-
-
1Loss-
KIAA1324-
-
-
-
3Gain-
KIAA1324L-
-
-
-
3Gain-
KIAA1522-
-
-
-
3Gain-
KIAA1549-
-
-
-
3Gain-
KIAA1551-
-
-
-
3Gain-
KIAA1586-
-
-
-
3Gain-
KIAA1614-
-
-
-
3Gain-
KIAA1671-
-
-
-
3Gain-
KIAA1755-
-
-
-
5Amp-
KIAA2013-
-
-
-
3Gain-
KIF13A-
-
-
-
3Gain-
KIF14-
-
-
-
3Gain-
KIF17-
-
-
-
3Gain-
KIF18B-
-
-
-
3Gain-
KIF19-
-
-
-
3Gain-
KIF1B-
-
-
-
3Gain-
KIF20A-
-
-
-
3Gain-
KIF21B-
-
-
-
3Gain-
KIF23-
-
-
-
3Gain-
KIF26A-
-
-
-
1Loss-
KIF26B-
-
-
-
3Gain-
KIF2A-
-
-
-
3Gain-
KIF2B-
-
-
-
3Gain-
KIF2C-
-
-
-
3Gain-
KIF3A-
-
-
-
3Gain-
KIF3B-
-
-
-
5Amp-
KIF4B-
-
-
-
3Gain-
KIF6-
-
-
-
3Gain-
KIF7-
-
-
-
3Gain-
KIFAP3-
-
-
-
3Gain-
KIFC1-
-
-
-
3Gain-
KIR3DL1p.S181F
Missense
SNP
0.414
2--
KIRREL1-
-
-
-
3Gain-
KIRREL3-
-
-
-
1Loss-
KISS1-
-
-
-
3Gain-
KISS1R-
-
-
-
1Loss-
KLC1-
-
-
-
1Loss-
KLC2-
-
-
-
3Gain-
KLC4-
-
-
-
3Gain-
KLF10-
-
-
-
3Gain-
KLF13-
-
-
-
3Gain-
KLF14-
-
-
-
3Gain-
KLF16-
-
-
-
1Loss-
KLF17-
-
-
-
3Gain-
KLHDC10-
-
-
-
3Gain-
KLHDC3-
-
-
-
3Gain-
KLHDC7A-
-
-
-
3Gain-
KLHDC7B-
-
-
-
3Gain-
KLHDC8A-
-
-
-
3Gain-
KLHDC9-
-
-
-
3Gain-
KLHL10-
-
-
-
3Gain-
KLHL11-
-
-
-
3Gain-
KLHL12-
-
-
-
3Gain-
KLHL17-
-
-
-
3Gain-
KLHL20-
-
-
-
3Gain-
KLHL21-
-
-
-
3Gain-
KLHL22-
-
-
-
3Gain-
KLHL24p.D518N
Missense
SNP
0.535
2--
KLHL25-
-
-
-
3Gain-
KLHL3-
-
-
-
3Gain-
KLHL31-
-
-
-
3Gain-
KLHL35-
-
-
-
3Gain-
KLHL42-
-
-
-
3Gain-
KLHL7-
-
-
-
3Gain-
KLK10-
-
-
-
1Loss-
KLK11-
-
-
-
1Loss-
KLK12-
-
-
-
1Loss-
KLK13-
-
-
-
1Loss-
KLK14-
-
-
-
1Loss-
KLK6-
-
-
-
1Loss-
KLK7-
-
-
-
1Loss-
KLK8-
-
-
-
1Loss-
KLK9-
-
-
-
1Loss-
KLRB1-
-
-
-
3Gain-
KLRC1-
-
-
-
3Gain-
KLRC2-
-
-
-
3Gain-
KLRC3-
-
-
-
3Gain-
KLRC4-
-
-
-
3Gain-
KLRC4-KLRK1-
-
-
-
3Gain-
KLRD1-
-
-
-
3Gain-
KLRF1-
-
-
-
3Gain-
KLRF2-
-
-
-
3Gain-
KLRG1-
-
-
-
3Gain-
KLRG2-
-
-
-
3Gain-
KLRK1-
-
-
-
3Gain-
KMO-
-
-
-
3Gain-
KMT2A-
-
-
-
1Loss-
KMT2C-
-
-
-
3Gain-
KMT2E-
-
-
-
3Gain-
KMT5B-
-
-
-
3Gain-
KNCN-
-
-
-
3Gain-
KNL1-
-
-
-
3Gain-
KNSTRN-
-
-
-
3Gain-
KNTC1-
-
-
-
3Gain-
KPNA2-
-
-
-
3Gain-
KPNA6-
-
-
-
3Gain-
KPNA7-
-
-
-
3Gain-
KPNB1-
-
-
-
3Gain-
KPRP-
-
-
-
3Gain-
KRAS-
-
-
-
3Gain-
KRBA1-
-
-
-
3Gain-
KRCC1-
-
-
-
1Loss-
KREMEN1-
-
-
-
3Gain-
KRIT1-
-
-
-
3Gain-
KRT10-
-
-
-
3Gain-
KRT12-
-
-
-
3Gain-
KRT13-
-
-
-
3Gain-
KRT14-
-
-
-
3Gain-
KRT15-
-
-
-
3Gain-
KRT16-
-
-
-
3Gain-
KRT17-
-
-
-
3Gain-
KRT19-
-
-
-
3Gain-
KRT20-
-
-
-
3Gain-
KRT222-
-
-
-
3Gain-
KRT23-
-
-
-
3Gain-
KRT24-
-
-
-
3Gain-
KRT25-
-
-
-
3Gain-
KRT26-
-
-
-
3Gain-
KRT27-
-
-
-
3Gain-
KRT28-
-
-
-
3Gain-
KRT31-
-
-
-
3Gain-
KRT32-
-
-
-
3Gain-
KRT33A-
-
-
-
3Gain-
KRT33B-
-
-
-
3Gain-
KRT34-
-
-
-
3Gain-
KRT35-
-
-
-
3Gain-
KRT36-
-
-
-
3Gain-
KRT37-
-
-
-
3Gain-
KRT38-
-
-
-
3Gain-
KRT39-
-
-
-
3Gain-
KRT40-
-
-
-
3Gain-
KRT71p.S31F
Missense
SNP
0.994
2--
KRT9-
-
-
-
3Gain-
KRTAP1-1-
-
-
-
3Gain-
KRTAP1-3-
-
-
-
3Gain-
KRTAP1-5-
-
-
-
3Gain-
KRTAP16-1-
-
-
-
3Gain-
KRTAP17-1-
-
-
-
3Gain-
KRTAP29-1-
-
-
-
3Gain-
KRTAP3-1-
-
-
-
3Gain-
KRTAP3-2-
-
-
-
3Gain-
KRTAP3-3-
-
-
-
3Gain-
KRTAP4-1-
-
-
-
3Gain-
KRTAP4-11-
-
-
-
3Gain-
KRTAP4-12-
-
-
-
3Gain-
KRTAP4-16-
-
-
-
3Gain-
KRTAP4-2-
-
-
-
3Gain-
KRTAP4-3-
-
-
-
3Gain-
KRTAP4-4-
-
-
-
3Gain-
KRTAP4-6-
-
-
-
3Gain-
KRTAP4-7-
-
-
-
3Gain-
KRTAP4-8-
-
-
-
3Gain-
KRTAP4-9-
-
-
-
3Gain-
KRTAP5-10-
-
-
-
3Gain-
KRTAP5-11-
-
-
-
3Gain-
KRTAP5-7-
-
-
-
3Gain-
KRTAP5-8-
-
-
-
3Gain-
KRTAP5-9-
-
-
-
3Gain-
KRTAP9-1-
-
-
-
3Gain-
KRTAP9-2-
-
-
-
3Gain-
KRTAP9-3-
-
-
-
3Gain-
KRTAP9-4-
-
-
-
3Gain-
KRTAP9-7-
-
-
-
3Gain-
KRTAP9-8-
-
-
-
3Gain-
KRTAP9-9-
-
-
-
3Gain-
KRTCAP2-
-
-
-
3Gain-
KSR2-
-
-
-
3Gain-
KTI12-
-
-
-
3Gain-
KYAT3-
-
-
-
3Gain-
L1TD1-
-
-
-
3Gain-
L34079.1-
-
-
-
1Loss-
L3MBTL1-
-
-
-
5Amp-
L3MBTL2-
-
-
-
3Gain-
L3MBTL4p.E609K
Missense
SNP
0.984
2--
LACTB-
-
-
-
3Gain-
LACTB2-
-
-
-
3Gain-
LACTBL1-
-
-
-
3Gain-
LAD1-
-
-
-
3Gain-
LAG3-
-
-
-
3Gain-
LAMA5-
-
-
-
5Amp-
LAMB1-
-
-
-
3Gain-
LAMB3-
-
-
-
3Gain-
LAMB4-
-
-
-
3Gain-
LAMC1-
-
-
-
3Gain-
LAMC2-
-
-
-
3Gain-
LAMTOR1-
-
-
-
3Gain-
LAMTOR2-
-
-
-
3Gain-
LAMTOR4-
-
-
-
3Gain-
LAMTOR5-
-
-
-
3Gain-
LANCL2-
-
-
-
3Gain-
LAPTM4B-
-
-
-
3Gain-
LAPTM5-
-
-
-
3Gain-
LARGE1-
-
-
-
3Gain-
LARP1-
-
-
-
3Gain-
LARP6-
-
-
-
3Gain-
LARS-
-
-
-
3Gain-
LASP1-
-
-
-
3Gain-
LAT2-
-
-
-
3Gain-
LAX1-
-
-
-
3Gain-
LAYN-
-
-
-
1Loss-
LBHD1-
-
-
-
3Gain-
LBP-
-
-
-
5Amp-
LBR-
-
-
-
3Gain-
LCA5-
-
-
-
3Gain-
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1C-
-
-
-
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3B-
-
-
-
3Gain-
LCE3C-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LCK-
-
-
-
3Gain-
LCMT2-
-
-
-
3Gain-
LCP2-
-
-
-
3Gain-
LCTL-
-
-
-
3Gain-
LDHAL6B-
-
-
-
3Gain-
LDHB-
-
-
-
3Gain-
LDLRAD1-
-
-
-
3Gain-
LDLRAD2-
-
-
-
3Gain-
LDLRAP1-
-
-
-
3Gain-
LEAP2-
-
-
-
3Gain-
LECT2-
-
-
-
3Gain-
LEFTY1-
-
-
-
3Gain-
LEFTY2-
-
-
-
3Gain-
LELP1-
-
-
-
3Gain-
LEMD1-
-
-
-
3Gain-
LEMD2-
-
-
-
3Gain-
LENEP-
-
-
-
3Gain-
LEO1-
-
-
-
3Gain-
LEP-
-
-
-
3Gain-
LEPR-
-
-
-
3Gain-
LEPROT-
-
-
-
3Gain-
LEXM-
-
-
-
3Gain-
LFNG-
-
-
-
3Gain-
LGALS1-
-
-
-
3Gain-
LGALS12-
-
-
-
3Gain-
LGALS2-
-
-
-
3Gain-
LGALS3BP-
-
-
-
3Gain-
LGALS4p.G8S
Missense
SNP
0.507
2--
LGALS8-
-
-
-
3Gain-
LGR5p.D366N
Missense
SNP
1.000
2--
LGR6-
-
-
-
3Gain-
LGSN-
-
-
-
3Gain-
LHFPL2-
-
-
-
3Gain-
LHFPL3-
-
-
-
3Gain-
LHFPL4-
-
-
-
1Loss-
LHFPL5-
-
-
-
3Gain-
LHX1-
-
-
-
3Gain-
LHX4-
-
-
-
3Gain-
LHX5-
-
-
-
3Gain-
LHX8-
-
-
-
3Gain-
LHX9-
-
-
-
3Gain-
LIF-
-
-
-
3Gain-
LILRB5p.P77L
Missense
SNP
0.463
2--
LIM2-
-
-
-
1Loss-
LIMD2-
-
-
-
3Gain-
LIME1-
-
-
-
5Amp-
LIMK1-
-
-
-
3Gain-
LIMK2-
-
-
-
3Gain-
LIMS1-
-
-
-
1Loss-
LIMS2-
-
-
-
1Loss-
LIMS3-
-
-
-
1Loss-
LIMS3-LOC440895-
-
-
-
1Loss-
LIMS4-
-
-
-
1Loss-
LIN28A-
-
-
-
3Gain-
LIN9-
-
-
-
3Gain-
LINC02203-
-
-
-
3Gain-
LINC02210-CRHR1-
-
-
-
3Gain-
LINGO1-
-
-
-
3Gain-
LINGO3-
-
-
-
1Loss-
LINGO4-
-
-
-
3Gain-
LINS1-
-
-
-
3Gain-
LIPC-
-
-
-
3Gain-
LIPT1-
-
-
-
1Loss-
LIPT2-
-
-
-
3Gain-
LIX1p.E250K
Missense
SNP
0.632
3Gain-
LIX1L-
-
-
-
3Gain-
LKAAEAR1-
-
-
-
5Amp-
LLCFC1-
-
-
-
3Gain-
LLGL2-
-
-
-
3Gain-
LMAN1-
-
-
-
2-LMAN1--RNA5-8SN2
LMAN1L-
-
-
-
3Gain-
LMAN2-
-
-
-
3Gain-
LMAN2L-
-
-
-
1Loss-
LMBR1-
-
-
-
3Gain-
LMBRD1-
-
-
-
3Gain-
LMCD1-
-
-
-
1Loss-
LMF2-
-
-
-
3Gain-
LMLN2-
-
-
-
1Loss-
LMNA-
-
-
-
3Gain-
LMNB1-
-
-
-
3Gain-
LMNB2-
-
-
-
1Loss-
LMNTD1-
-
-
-
3Gain-
LMO3-
-
-
-
3Gain-
LMO4-
-
-
-
3Gain-
LMOD1-
-
-
-
3Gain-
LMOD2-
-
-
-
3Gain-
LMTK2-
-
-
-
3Gain-
LMX1A-
-
-
-
3Gain-
LNPEP-
-
-
-
3Gain-
LONRF2-
-
-
-
1Loss-
LOR-
-
-
-
3Gain-
LOX-
-
-
-
3Gain-
LOXL1-
-
-
-
3Gain-
LPAR3-
-
-
-
3Gain-
LPAR5-
-
-
-
3Gain-
LPCAT3-
-
-
-
3Gain-
LPCAT4-
-
-
-
3Gain-
LPGAT1-
-
-
-
3Gain-
LPIN3-
-
-
-
5Amp-
LPO-
-
-
-
3Gain-
LPXN-
-
-
-
3Gain-
LRCH4-
-
-
-
3Gain-
LRFN2-
-
-
-
3Gain-
LRFN4-
-
-
-
3Gain-
LRG1-
-
-
-
1Loss-
LRGUK-
-
-
-
3Gain-
LRIF1-
-
-
-
3Gain-
LRIG2p.P644S
Missense
SNP
0.498
3Gain-
LRMP-
-
-
-
3Gain-
LRP12-
-
-
-
3Gain-
LRP1Bp.L4184F
Missense
SNP
0.529
2--
LRP2p.R4065Q
Missense
SNP
0.520
2--
LRP5p.S1357F
Missense
SNP
0.351
3Gain-
LRP5L-
-
-
-
3Gain-
LRP6-
-
-
-
3Gain-
LRP8-
-
-
-
3Gain-
LRRC1-
-
-
-
3Gain-
LRRC10B-
-
-
-
3Gain-
LRRC16Ap.P791S
Missense
SNP
0.687
NDND-
LRRC17-
-
-
-
3Gain-
LRRC23-
-
-
-
3Gain-
LRRC28-
-
-
-
3Gain-
LRRC32-
-
-
-
3Gain-
LRRC37A-
-
-
-
1Loss-
LRRC37A2-
-
-
-
1Loss-
LRRC37A3-
-
-
-
3Gain-
LRRC38-
-
-
-
3Gain-
LRRC39-
-
-
-
3Gain-
LRRC3B-
-
-
-
1Loss-
LRRC3C-
-
-
-
3Gain-
LRRC4-
-
-
-
3Gain-
LRRC40-
-
-
-
3Gain-
LRRC41-
-
-
-
3Gain-
LRRC42-
-
-
-
3Gain-
LRRC43-
-
-
-
3Gain-
LRRC45-
-
-
-
3Gain-
LRRC46-
-
-
-
3Gain-
LRRC47-
-
-
-
3Gain-
LRRC49-
-
-
-
3Gain-
LRRC52-
-
-
-
3Gain-
LRRC53-
-
-
-
3Gain-
LRRC55-
-
-
-
3Gain-
LRRC57-
-
-
-
3Gain-
LRRC59-
-
-
-
3Gain-
LRRC61-
-
-
-
3Gain-
LRRC63p.S412F
Missense
SNP
1.000
2--
LRRC69-
-
-
-
3Gain-
LRRC7p.E195K
p.G1464R
Missense
Missense
SNP
SNP
0.444
0.488
3Gain-
LRRC70p.P388S
Missense
SNP
0.261
3Gain-
LRRC71-
-
-
-
3Gain-
LRRC72-
-
-
-
3Gain-
LRRC73-
-
-
-
3Gain-
LRRC74B-
-
-
-
3Gain-
LRRC75B-
-
-
-
3Gain-
LRRC8B-
-
-
-
3Gain-
LRRC8C-
-
-
-
3Gain-
LRRC8D-
-
-
-
3Gain-
LRRCC1-
-
-
-
3Gain-
LRRD1-
-
-
-
3Gain-
LRRIQ3-
-
-
-
3Gain-
LRRK1-
-
-
-
3Gain-
LRRN1-
-
-
-
1Loss-
LRRN2-
-
-
-
3Gain-
LRRN3-
-
-
-
3Gain-
LRRN4CL-
-
-
-
3Gain-
LRRTM1-
-
-
-
3Gain-
LRRTM2-
-
-
-
3Gain-
LRRTM4p.S243F
Missense
SNP
0.454
3Gain-
LRTM2-
-
-
-
3Gain-
LRTOMT-
-
-
-
3Gain-
LRWD1-
-
-
-
3Gain-
LSM10-
-
-
-
3Gain-
LSM11-
-
-
-
3Gain-
LSM12-
-
-
-
3Gain-
LSM14B-
-
-
-
5Amp-
LSM3-
-
-
-
1Loss-
LSM5-
-
-
-
3Gain-
LSM7-
-
-
-
1Loss-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LSRp.R194K
Missense
SNP
0.453
2--
LTBP3-
-
-
-
3Gain-
LTBR-
-
-
-
3Gain-
LTC4S-
-
-
-
3Gain-
LTK-
-
-
-
3Gain-
LTO1-
-
-
-
3Gain-
LUC7L2-
-
-
-
3Gain-
LUC7L3-
-
-
-
3Gain-
LURAP1-
-
-
-
3Gain-
LUZP1-
-
-
-
3Gain-
LUZP6-
-
-
-
3Gain-
LVRN-
-
-
-
3Gain-
LY9-
-
-
-
3Gain-
LY96-
-
-
-
3Gain-
LYG1p.R52C
Missense
SNP
0.515
1Loss-
LYG2-
-
-
-
1Loss-
LYN-
-
-
-
3Gain-
LYPD1-
-
-
-
1Loss-
LYPD3-
-
-
-
1Loss-
LYPD5-
-
-
-
1Loss-
LYPD8-
-
-
-
3Gain-
LYPLA2-
-
-
-
3Gain-
LYPLAL1-
-
-
-
3Gain-
LYRM2-
-
-
-
3Gain-
LYRM7-
-
-
-
3Gain-
LYSMD1-
-
-
-
3Gain-
LYSMD2-
-
-
-
3Gain-
LYSMD3-
-
-
-
3Gain-
LYSMD4-
-
-
-
3Gain-
LYST-
-
-
-
3Gain-
LZIC-
-
-
-
3Gain-
LZTR1-
-
-
-
3Gain-
M6PR-
-
-
-
3Gain-
MAB21L3-
-
-
-
3Gain-
MACC1-
-
-
-
3Gain-
MACF1-
-
-
-
3Gain-
MACO1-
-
-
-
3Gain-
MACROD1-
-
-
-
3Gain-
MAD1L1-
-
-
-
3Gain-
MAD2L1BP-
-
-
-
3Gain-
MAD2L2-
-
-
-
3Gain-
MADCAM1-
-
-
-
1Loss-
MAEL-
-
-
-
3Gain-
MAFB-
-
-
-
5Amp-
MAFF-
-
-
-
3Gain-
MAFG-
-
-
-
3Gain-
MAFK-
-
-
-
3Gain-
MAGEA10p.P101S
Missense
SNP
0.429
NDND-
MAGEA11p.P261S
Missense
SNP
0.381
NDND-
MAGEA8p.E137K
Missense
SNP
0.489
NDND-
MAGEC1p.D123N
Missense
SNP
0.194
NDND-
MAGEL2-
-
-
-
3Gain-
MAGI2p.G1191E
Missense
SNP
0.522
3Gain-
MAGI3-
-
-
-
3Gain-
MAGOH-
-
-
-
3Gain-
MAGOHB-
-
-
-
3Gain-
MAJIN-
-
-
-
3Gain-
MAK-
-
-
-
3Gain-
MAL-
-
-
-
1Loss-
MALL-
-
-
-
1Loss-
MALSU1-
-
-
-
3Gain-
MAML1-
-
-
-
3Gain-
MAML2-
-
-
-
3Gain-
MAN1A2-
-
-
-
3Gain-
MAN1C1-
-
-
-
3Gain-
MAN2A1-
-
-
-
3Gain-
MAN2A2-
-
-
-
3Gain-
MAN2C1-
-
-
-
3Gain-
MANBAL-
-
-
-
5Amp-
MANEAL-
-
-
-
3Gain-
MANSC1-
-
-
-
3Gain-
MANSC4-
-
-
-
3Gain-
MAP10-
-
-
-
3Gain-
MAP1A-
-
-
-
3Gain-
MAP1B-
-
-
-
3Gain-
MAP1LC3A-
-
-
-
5Amp-
MAP1LC3B2-
-
-
-
3Gain-
MAP1LC3C-
-
-
-
3Gain-
MAP2K1-
-
-
-
3Gain-
MAP2K2-
-
-
-
1Loss-
MAP2K3p.D250N
Missense
SNP
0.458
2--
MAP2K5-
-
-
-
3Gain-
MAP2K6-
-
-
-
3Gain-
MAP3K1-
-
-
-
3Gain-
MAP3K11-
-
-
-
3Gain-
MAP3K14-
-
-
-
3Gain-
MAP3K2-
-
-
-
1Loss-
MAP3K21-
-
-
-
3Gain-
MAP3K3-
-
-
-
3Gain-
MAP3K6-
-
-
-
3Gain-
MAP3K7-
-
-
-
3Gain-
MAP4K2-
-
-
-
3Gain-
MAP4K4-
-
-
-
1Loss-
MAP6-
-
-
-
3Gain-
MAP7D1-
-
-
-
3Gain-
MAPK1-
-
-
-
3Gain-
MAPK11-
-
-
-
3Gain-
MAPK12-
-
-
-
3Gain-
MAPK13-
-
-
-
3Gain-
MAPK14-
-
-
-
3Gain-
MAPK6-
-
-
-
3Gain-
MAPK8IP2-
-
-
-
3Gain-
MAPK9-
-
-
-
3Gain-
MAPKAPK2-
-
-
-
3Gain-
MAPKAPK5-
-
-
-
3Gain-
MAPKBP1-
-
-
-
3Gain-
MAPRE1-
-
-
-
5Amp-
MAPT-
-
-
-
3Gain-
MARC1-
-
-
-
3Gain-
MARC2-
-
-
-
3Gain-
MARCH10-
-
-
-
3Gain-
MARCH3-
-
-
-
3Gain-
MARCKSL1-
-
-
-
3Gain-
MARCO-
-
-
-
1Loss-
MARK1-
-
-
-
3Gain-
MARK2-
-
-
-
3Gain-
MARK3-
-
-
-
1Loss-
MARVELD2-
-
-
-
3Gain-
MASP2-
-
-
-
3Gain-
MAST2-
-
-
-
3Gain-
MAST4p.S429F
Missense
SNP
0.649
3Gain-
MAT2B-
-
-
-
3Gain-
MATK-
-
-
-
1Loss-
MATN1-
-
-
-
3Gain-
MATN2-
-
-
-
3Gain-
MATN4-
-
-
-
5Amp-
MATR3-
-
-
-
3Gain-
MB-
-
-
-
3Gain-
MBD3-
-
-
-
1Loss-
MBLAC1-
-
-
-
3Gain-
MBLAC2-
-
-
-
3Gain-
MBOAT1-
-
-
-
3Gain-
MBTD1-
-
-
-
3Gain-
MC3Rp.S4L
Missense
SNP
0.379
5Amp-
MCAM-
-
-
-
1Loss-
MCAT-
-
-
-
3Gain-
MCC-
-
-
-
3Gain-
MCCC2-
-
-
-
3Gain-
MCHR1-
-
-
-
3Gain-
MCHR2p.R140*
p.E14K
Nonsense
Missense
SNP
SNP
0.517
0.582
2--
MCIDAS-
-
-
-
3Gain-
MCL1-
-
-
-
3Gain-
MCM3-
-
-
-
3Gain-
MCM5-
-
-
-
3Gain-
MCM7-
-
-
-
3Gain-
MCMDC2-
-
-
-
3Gain-
MCOLN2-
-
-
-
3Gain-
MCOLN3-
-
-
-
3Gain-
MCRIP1-
-
-
-
3Gain-
MCTP1p.E759K
Missense
SNP
0.795
3Gain-
MCTP2p.W702*
Nonsense
SNP
0.604
3Gain-
MCTS2P-
-
-
-
5Amp-
MCUR1-
-
-
-
3Gain-
MDFI-
-
-
-
3Gain-
MDFIC-
-
-
-
3Gain-
MDGA1-
-
-
-
3Gain-
MDH2-
-
-
-
3Gain-
MDM4-
-
-
-
3Gain-
MDN1-
-
-
-
3Gain-
ME1-
-
-
-
3Gain-
ME3-
-
-
-
3Gain-
MEA1-
-
-
-
3Gain-
MEAF6-
-
-
-
3Gain-
MECOMp.A761V
Missense
SNP
0.463
2--
MECR-
-
-
-
3Gain-
MED1-
-
-
-
3Gain-
MED13-
-
-
-
3Gain-
MED13L-
-
-
-
3Gain-
MED15-
-
-
-
3Gain-
MED16-
-
-
-
1Loss-
MED17-
-
-
-
3Gain-
MED18-
-
-
-
3Gain-
MED19-
-
-
-
3Gain-
MED20-
-
-
-
3Gain-
MED21-
-
-
-
3Gain-
MED24-
-
-
-
3Gain-
MED7-
-
-
-
3Gain-
MED8-
-
-
-
3Gain-
MEF2A-
-
-
-
3Gain-
MEF2C-
-
-
-
3Gain-
MEF2D-
-
-
-
3Gain-
MEFVp.G236E
Missense
SNP
0.552
2--
MEGF10-
-
-
-
3Gain-
MEGF11-
-
-
-
3Gain-
MEGF6-
-
-
-
3Gain-
MEI1-
-
-
-
3Gain-
MEI4-
-
-
-
3Gain-
MEIOC-
-
-
-
3Gain-
MEIS2-
-
-
-
3Gain-
MEN1-
-
-
-
3Gain-
MEOX1-
-
-
-
3Gain-
MEOX2-
-
-
-
3Gain-
MEP1A-
-
-
-
3Gain-
MEPCE-
-
-
-
3Gain-
MERTK-
-
-
-
1Loss-
MESD-
-
-
-
3Gain-
MESP1-
-
-
-
3Gain-
MESP2-
-
-
-
3Gain-
MEST-
-
-
-
3Gain-
MET-
-
-
-
3Gain-
METRNL-
-
-
-
3Gain-
METTL11B-
-
-
-
3Gain-
METTL13-
-
-
-
3Gain-
METTL18-
-
-
-
3Gain-
METTL23-
-
-
-
3Gain-
METTL27-
-
-
-
3Gain-
METTL2A-
-
-
-
3Gain-
METTL2B-
-
-
-
3Gain-
METTL6-
-
-
-
1Loss-
MEX3A-
-
-
-
3Gain-
MEX3B-
-
-
-
3Gain-
MEX3D-
-
-
-
1Loss-
MFAP1-
-
-
-
3Gain-
MFAP2-
-
-
-
3Gain-
MFAP3-
-
-
-
3Gain-
MFAP5-
-
-
-
3Gain-
MFGE8-
-
-
-
3Gain-
MFN2-
-
-
-
3Gain-
MFNG-
-
-
-
3Gain-
MFRP-
-
-
-
1Loss-
MFSD11-
-
-
-
3Gain-
MFSD12-
-
-
-
1Loss-
MFSD14A-
-
-
-
3Gain-
MFSD2A-
-
-
-
3Gain-
MFSD4A-
-
-
-
3Gain-
MFSD9-
-
-
-
1Loss-
MGA-
-
-
-
3Gain-
MGAM-
-
-
-
3Gain-
MGAM2-
-
-
-
3Gain-
MGAT1-
-
-
-
3Gain-
MGAT3-
-
-
-
3Gain-
MGAT4A-
-
-
-
1Loss-
MGAT4B-
-
-
-
3Gain-
MGAT5-
-
-
-
1Loss-
MGAT5B-
-
-
-
3Gain-
MGP-
-
-
-
3Gain-
MGST1-
-
-
-
3Gain-
MGST3-
-
-
-
3Gain-
MIA3-
-
-
-
3Gain-
MIB2-
-
-
-
3Gain-
MICAL3-
-
-
-
3Gain-
MICALL1-
-
-
-
3Gain-
MICALL2-
-
-
-
3Gain-
MIDNp.D181N
Missense
SNP
1.000
1Loss-
MIEF1-
-
-
-
3Gain-
MIEN1-
-
-
-
3Gain-
MIER1p.P298S
Missense
SNP
0.528
3Gain-
MIER2-
-
-
-
1Loss-
MIER3-
-
-
-
3Gain-
MIF-
-
-
-
3Gain-
MIF4GD-
-
-
-
3Gain-
MIGA1-
-
-
-
3Gain-
MIIP-
-
-
-
3Gain-
MILR1-
-
-
-
3Gain-
MINDY1-
-
-
-
3Gain-
MINDY2-
-
-
-
3Gain-
MINDY4-
-
-
-
3Gain-
MINOS1-
-
-
-
3Gain-
MINOS1-NBL1-
-
-
-
3Gain-
MIOS-
-
-
-
3Gain-
MIOX-
-
-
-
3Gain-
MISP-
-
-
-
1Loss-
MITD1-
-
-
-
1Loss-
MIXL1-
-
-
-
3Gain-
MKLN1-
-
-
-
3Gain-
MKNK1-
-
-
-
3Gain-
MKNK2-
-
-
-
1Loss-
MKRN1-
-
-
-
3Gain-
MKRN2-
-
-
-
1Loss-
MKRN2OS-
-
-
-
1Loss-
MKRN3-
-
-
-
3Gain-
MKS1-
-
-
-
3Gain-
MLC1-
-
-
-
3Gain-
MLEC-
-
-
-
3Gain-
MLF2-
-
-
-
3Gain-
MLIP-
-
-
-
3Gain-
MLLT11-
-
-
-
3Gain-
MLLT6-
-
-
-
3Gain-
MLN-
-
-
-
3Gain-
MLX-
-
-
-
3Gain-
MLXIP-
-
-
-
3Gain-
MLXIPL-
-
-
-
3Gain-
MMACHC-
-
-
-
3Gain-
MMD-
-
-
-
3Gain-
MMD2-
-
-
-
3Gain-
MMEL1p.E208K
Missense
SNP
0.484
3Gain-
MMP1-
-
-
-
1Loss-
MMP10-
-
-
-
1Loss-
MMP11-
-
-
-
3Gain-
MMP12-
-
-
-
1Loss-
MMP13-
-
-
-
1Loss-
MMP16p.P435S
Missense
SNP
0.402
3Gain-
MMP20-
-
-
-
1Loss-
MMP23B-
-
-
-
3Gain-
MMP24-
-
-
-
5Amp-
MMP27-
-
-
-
1Loss-
MMP3-
-
-
-
1Loss-
MMP7-
-
-
-
1Loss-
MMP8-
-
-
-
1Loss-
MMP9-
-
-
-
5Amp-
MN1-
-
-
-
3Gain-
MNDA-
-
-
-
3Gain-
MNS1-
-
-
-
3Gain-
MNX1-
-
-
-
3Gain-
MOB3A-
-
-
-
1Loss-
MOB3C-
-
-
-
3Gain-
MOCS1-
-
-
-
3Gain-
MOCS2-
-
-
-
3Gain-
MOCS3-
-
-
-
5Amp-
MOGAT2-
-
-
-
3Gain-
MOGAT3-
-
-
-
3Gain-
MOK-
-
-
-
1Loss-
MORC1p.E816K
Missense
SNP
0.320
2--
MORC2-
-
-
-
3Gain-
MORF4L1-
-
-
-
3Gain-
MORN1-
-
-
-
3Gain-
MORN3-
-
-
-
3Gain-
MOS-
-
-
-
3Gain-
MOSPD3-
-
-
-
3Gain-
MOV10-
-
-
-
3Gain-
MOV10L1-
-
-
-
3Gain-
MPC2-
-
-
-
3Gain-
MPEG1-
-
-
-
3Gain-
MPHOSPH9p.S731L
Missense
SNP
1.000
3Gain-
MPI-
-
-
-
3Gain-
MPL-
-
-
-
3Gain-
MPLKIP-
-
-
-
3Gain-
MPND-
-
-
-
1Loss-
MPO-
-
-
-
3Gain-
MPP2-
-
-
-
3Gain-
MPP3-
-
-
-
3Gain-
MPP6-
-
-
-
3Gain-
MPPED1-
-
-
-
3Gain-
MPST-
-
-
-
3Gain-
MPZ-
-
-
-
3Gain-
MPZL1-
-
-
-
3Gain-
MPZL2-
-
-
-
1Loss-
MPZL3-
-
-
-
1Loss-
MR1-
-
-
-
3Gain-
MRAP2-
-
-
-
3Gain-
MRC2-
-
-
-
3Gain-
MRE11-
-
-
-
3Gain-
MRGBP-
-
-
-
5Amp-
MRGPRD-
-
-
-
3Gain-
MRGPRF-
-
-
-
3Gain-
MRM1-
-
-
-
3Gain-
MRM2-
-
-
-
3Gain-
MRNIP-
-
-
-
3Gain-
MROH7-
-
-
-
3Gain-
MROH7-TTC4-
-
-
-
3Gain-
MROH8-
-
-
-
5Amp-
MROH9-
-
-
-
3Gain-
MRPL10-
-
-
-
3Gain-
MRPL11-
-
-
-
3Gain-
MRPL12-
-
-
-
3Gain-
MRPL14-
-
-
-
3Gain-
MRPL16-
-
-
-
3Gain-
MRPL2-
-
-
-
3Gain-
MRPL20-
-
-
-
3Gain-
MRPL21-
-
-
-
3Gain-
MRPL22-
-
-
-
3Gain-
MRPL24-
-
-
-
3Gain-
MRPL27-
-
-
-
3Gain-
MRPL30-
-
-
-
1Loss-
MRPL32-
-
-
-
3Gain-
MRPL37-
-
-
-
3Gain-
MRPL38-
-
-
-
3Gain-
MRPL40-
-
-
-
3Gain-
MRPL45-
-
-
-
3Gain-
MRPL46-
-
-
-
3Gain-
MRPL48-
-
-
-
3Gain-
MRPL49-
-
-
-
3Gain-
MRPL51-
-
-
-
3Gain-
MRPL54-
-
-
-
1Loss-
MRPL55-
-
-
-
3Gain-
MRPL58-
-
-
-
3Gain-
MRPL9-
-
-
-
3Gain-
MRPS10-
-
-
-
3Gain-
MRPS11-
-
-
-
3Gain-
MRPS14-
-
-
-
3Gain-
MRPS15-
-
-
-
3Gain-
MRPS17-
-
-
-
3Gain-
MRPS18A-
-
-
-
3Gain-
MRPS21-
-
-
-
3Gain-
MRPS23-
-
-
-
3Gain-
MRPS24-
-
-
-
3Gain-
MRPS25-
-
-
-
1Loss-
MRPS27-
-
-
-
3Gain-
MRPS28-
-
-
-
3Gain-
MRPS33-
-
-
-
3Gain-
MRPS35-
-
-
-
3Gain-
MRPS36-
-
-
-
3Gain-
MRPS5-
-
-
-
1Loss-
MRPS7-
-
-
-
3Gain-
MRPS9-
-
-
-
1Loss-
MRS2-
-
-
-
3Gain-
MRTFA-
-
-
-
3Gain-
MRTO4-
-
-
-
3Gain-
MS4A1-
-
-
-
3Gain-
MS4A10-
-
-
-
3Gain-
MS4A12-
-
-
-
3Gain-
MS4A13-
-
-
-
3Gain-
MS4A14-
-
-
-
3Gain-
MS4A15-
-
-
-
3Gain-
MS4A18-
-
-
-
3Gain-
MS4A2-
-
-
-
3Gain-
MS4A3p.S156L
Missense
SNP
0.282
3Gain-
MS4A4A-
-
-
-
3Gain-
MS4A4E-
-
-
-
3Gain-
MS4A5-
-
-
-
3Gain-
MS4A6A-
-
-
-
3Gain-
MS4A6E-
-
-
-
3Gain-
MS4A7-
-
-
-
3Gain-
MS4A8-
-
-
-
3Gain-
MSANTD2-
-
-
-
1Loss-
MSANTD4-
-
-
-
1Loss-
MSC-
-
-
-
3Gain-
MSH3-
-
-
-
3Gain-
MSH4-
-
-
-
3Gain-
MSI1-
-
-
-
3Gain-
MSI2-
-
-
-
3Gain-
MSL1-
-
-
-
3Gain-
MSTO1-
-
-
-
3Gain-
MSX2-
-
-
-
3Gain-
MT1HL1-
-
-
-
3Gain-
MTA2-
-
-
-
3Gain-
MTCH1-
-
-
-
3Gain-
MTDH-
-
-
-
3Gain-
MTERF1-
-
-
-
3Gain-
MTERF2-
-
-
-
1Loss-
MTERF3-
-
-
-
3Gain-
MTF1-
-
-
-
3Gain-
MTF2-
-
-
-
3Gain-
MTFMT-
-
-
-
3Gain-
MTFP1-
-
-
-
3Gain-
MTFR1-
-
-
-
3Gain-
MTFR1L-
-
-
-
3Gain-
MTG2-
-
-
-
5Amp-
MTHFR-
-
-
-
3Gain-
MTHFS-
-
-
-
3Gain-
MTMR10-
-
-
-
3Gain-
MTMR11-
-
-
-
3Gain-
MTMR14-
-
-
-
1Loss-
MTMR2-
-
-
-
3Gain-
MTMR3-
-
-
-
3Gain-
MTMR4-
-
-
-
3Gain-
MTNR1B-
-
-
-
3Gain-
MTO1-
-
-
-
3Gain-
MTOR-
-
-
-
3Gain-
MTPN-
-
-
-
3Gain-
MTR-
-
-
-
3Gain-
MTREX-
-
-
-
3Gain-
MTURN-
-
-
-
3Gain-
MTX1-
-
-
-
3Gain-
MTX3-
-
-
-
3Gain-
MUC1-
-
-
-
3Gain-
MUC12-
-
-
-
3Gain-
MUC16p.P13115L
p.S11928L
p.S11029L
p.G10986E
p.M8891I
p.S7242F
p.S6410F
p.H6006Y
p.P5919S
p.G5304E
p.S4011F
p.S1200F
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
0.289
0.430
0.567
0.604
0.358
0.392
0.552
0.414
0.606
0.592
0.579
0.347
2--
MUC17p.E1137K
p.E2453K
p.E3990K
p.E4270K
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.485
0.527
0.475
0.493
3Gain-
MUC3A-
-
-
-
3Gain-
MUC7p.S336L
Missense
SNP
1.000
2--
MUL1-
-
-
-
3Gain-
MUM1-
-
-
-
1Loss-
MUS81-
-
-
-
3Gain-
MUSKp.R521K
Missense
SNP
0.386
2--
MUT-
-
-
-
3Gain-
MUTYH-
-
-
-
3Gain-
MXD3-
-
-
-
3Gain-
MXRA7-
-
-
-
3Gain-
MXRA8-
-
-
-
3Gain-
MYADML2-
-
-
-
3Gain-
MYBL1-
-
-
-
3Gain-
MYBL2-
-
-
-
5Amp-
MYBPC1-
-
-
-
3Gain-
MYBPH-
-
-
-
3Gain-
MYBPHL-
-
-
-
3Gain-
MYCBP-
-
-
-
3Gain-
MYCBPAP-
-
-
-
3Gain-
MYCL-
-
-
-
3Gain-
MYDGF-
-
-
-
1Loss-
MYEF2-
-
-
-
3Gain-
MYEOV-
-
-
-
3Gain-
MYH6-
-
-
-
1Loss-
MYH7-
-
-
-
1Loss-
MYH7B-
-
-
-
5Amp-
MYH9-
-
-
-
3Gain-
MYL10-
-
-
-
3Gain-
MYL2-
-
-
-
3Gain-
MYL4-
-
-
-
3Gain-
MYL7-
-
-
-
3Gain-
MYL9-
-
-
-
5Amp-
MYLIP-
-
-
-
3Gain-
MYLK2-
-
-
-
5Amp-
MYMX-
-
-
-
3Gain-
MYO15B-
-
-
-
3Gain-
MYO18B-
-
-
-
3Gain-
MYO1E-
-
-
-
3Gain-
MYO1G-
-
-
-
3Gain-
MYO1H-
-
-
-
4Gain-
MYO5A-
-
-
-
3Gain-
MYO5C-
-
-
-
3Gain-
MYO6-
-
-
-
3Gain-
MYO7Ap.G1982E
Missense
SNP
0.353
3Gain-
MYO7Bp.P494L
Missense
SNP
0.488
1Loss-
MYO9Ap.R1640C
Missense
SNP
0.627
3Gain-
MYOC-
-
-
-
3Gain-
MYOCDp.E154K
Missense
SNP
1.000
2--
MYOCOS-
-
-
-
3Gain-
MYOG-
-
-
-
3Gain-
MYOM3-
-
-
-
3Gain-
MYOT-
-
-
-
3Gain-
MYOZ3-
-
-
-
3Gain-
MYRF-
-
-
-
3Gain-
MYSM1-
-
-
-
3Gain-
MYT1-
-
-
-
5Amp-
MYT1Lp.D236N
Missense
SNP
0.462
2--
MYZAP-
-
-
-
3Gain-
MZB1-
-
-
-
3Gain-
MZF1-
-
-
-
1Loss-
MZT2A-
-
-
-
1Loss-
MZT2B-
-
-
-
1Loss-
N4BP3-
-
-
-
3Gain-
NAA25-
-
-
-
3Gain-
NAA40-
-
-
-
3Gain-
NAALAD2-
-
-
-
3Gain-
NAALADL1-
-
-
-
3Gain-
NACA2-
-
-
-
3Gain-
NACAD-
-
-
-
3Gain-
NADK-
-
-
-
3Gain-
NADSYN1-
-
-
-
3Gain-
NAGA-
-
-
-
3Gain-
NAGLU-
-
-
-
3Gain-
NAGS-
-
-
-
3Gain-
NAIP-
-
-
-
3Gain-
NAMPT-
-
-
-
3Gain-
NANOG-
-
-
-
3Gain-
NANOGNBp.E26K
Missense
SNP
0.339
3Gain-
NANOGP8-
-
-
-
3Gain-
NAPEPLD-
-
-
-
3Gain-
NARF-
-
-
-
3Gain-
NARS2-
-
-
-
3Gain-
NASP-
-
-
-
3Gain-
NAT16-
-
-
-
3Gain-
NAT6p.R299C
Missense
SNP
0.509
NDND-
NAT9-
-
-
-
3Gain-
NAV1-
-
-
-
3Gain-
NAXE-
-
-
-
3Gain-
NBL1-
-
-
-
3Gain-
NBN-
-
-
-
3Gain-
NBPF1-
-
-
-
3Gain-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
3Gain-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
3Gain-
NBPF26-
-
-
-
3Gain-
NBPF3-
-
-
-
3Gain-
NBPF4-
-
-
-
3Gain-
NBPF6-
-
-
-
3Gain-
NBPF9-
-
-
-
3Gain-
NBR1-
-
-
-
3Gain-
NCALD-
-
-
-
3Gain-
NCAM1-
-
-
-
1Loss-
NCANp.E34K
Missense
SNP
0.659
2--
NCAPD2-
-
-
-
3Gain-
NCAPD3-
-
-
-
1Loss-
NCAPG2-
-
-
-
3Gain-
NCAPH-
-
-
-
1Loss-
NCAPH2-
-
-
-
3Gain-
NCDN-
-
-
-
3Gain-
NCF1-
-
-
-
3Gain-
NCF2-
-
-
-
3Gain-
NCF4-
-
-
-
3Gain-
NCK2-
-
-
-
1Loss-
NCKAP5p.E1853K
Missense
SNP
0.420
1Loss-
NCLN-
-
-
-
1Loss-
NCMAP-
-
-
-
3Gain-
NCOA2-
-
-
-
3Gain-
NCOA3-
-
-
-
5Amp-
NCOA5-
-
-
-
5Amp-
NCOA6-
-
-
-
5Amp-
NCR2-
-
-
-
3Gain-
NCSTN-
-
-
-
3Gain-
NDC1-
-
-
-
3Gain-
NDFIP1-
-
-
-
3Gain-
NDN-
-
-
-
3Gain-
NDRG3-
-
-
-
5Amp-
NDST1-
-
-
-
3Gain-
NDUFA2-
-
-
-
3Gain-
NDUFA4-
-
-
-
3Gain-
NDUFA5-
-
-
-
3Gain-
NDUFA6-
-
-
-
3Gain-
NDUFA9-
-
-
-
3Gain-
NDUFAF1-
-
-
-
3Gain-
NDUFAF2-
-
-
-
3Gain-
NDUFAF6-
-
-
-
3Gain-
NDUFAF8-
-
-
-
3Gain-
NDUFB2-
-
-
-
3Gain-
NDUFC2-
-
-
-
3Gain-
NDUFC2-KCTD14-
-
-
-
3Gain-
NDUFS2-
-
-
-
3Gain-
NDUFS4-
-
-
-
3Gain-
NDUFS5-
-
-
-
3Gain-
NDUFS7-
-
-
-
1Loss-
NDUFS8-
-
-
-
3Gain-
NDUFV1-
-
-
-
3Gain-
NEBLp.E743K
Missense
SNP
0.463
2--
NECAB1-
-
-
-
3Gain-
NECAB3-
-
-
-
5Amp-
NECAP1-
-
-
-
3Gain-
NECAP2-
-
-
-
3Gain-
NECTIN1-
-
-
-
1Loss-
NECTIN4-
-
-
-
3Gain-
NEDD4-
-
-
-
3Gain-
NEDD9-
-
-
-
3Gain-
NEFH-
-
-
-
3Gain-
NEFLp.E371K
Missense
SNP
0.649
2--
NEGR1-
-
-
-
3Gain-
NEIL1-
-
-
-
3Gain-
NEK10-
-
-
-
1Loss-
NEK2-
-
-
-
3Gain-
NEK7-
-
-
-
3Gain-
NELFCD-
-
-
-
5Amp-
NENF-
-
-
-
3Gain-
NEO1-
-
-
-
3Gain-
NES-
-
-
-
3Gain-
NEU3-
-
-
-
3Gain-
NEURL1B-
-
-
-
3Gain-
NEURL2-
-
-
-
5Amp-
NEURL3-
-
-
-
1Loss-
NEUROD2-
-
-
-
3Gain-
NEUROD6-
-
-
-
3Gain-
NEUROG1-
-
-
-
3Gain-
NEXNp.E294K
Missense
SNP
0.479
3Gain-
NF2-
-
-
-
3Gain-
NFAM1-
-
-
-
3Gain-
NFASC-
-
-
-
3Gain-
NFATC2-
-
-
-
5Amp-
NFE2L1-
-
-
-
3Gain-
NFE2L3-
-
-
-
3Gain-
NFE4-
-
-
-
3Gain-
NFIA-
-
-
-
3Gain-
NFIC-
-
-
-
1Loss-
NFIXp.R88C
Missense
SNP
0.409
2--
NFKBIE-
-
-
-
3Gain-
NFRKB-
-
-
-
1Loss-
NFS1-
-
-
-
5Amp-
NFYA-
-
-
-
3Gain-
NFYB-
-
-
-
3Gain-
NFYC-
-
-
-
3Gain-
NGDN-
-
-
-
1Loss-
NGF-
-
-
-
3Gain-
NGFR-
-
-
-
3Gain-
NGLY1-
-
-
-
1Loss-
NGRN-
-
-
-
3Gain-
NHLH1-
-
-
-
3Gain-
NHLH2-
-
-
-
3Gain-
NHLRC1-
-
-
-
3Gain-
NHP2-
-
-
-
3Gain-
NID1-
-
-
-
3Gain-
NIFK-
-
-
-
1Loss-
NINJ2-
-
-
-
3Gain-
NIPA1-
-
-
-
3Gain-
NIPA2-
-
-
-
3Gain-
NIPAL2-
-
-
-
3Gain-
NIPAL3-
-
-
-
3Gain-
NIPAL4-
-
-
-
3Gain-
NIPSNAP1-
-
-
-
3Gain-
NIPSNAP2-
-
-
-
3Gain-
NIT1-
-
-
-
3Gain-
NKAIN1-
-
-
-
3Gain-
NKAIN3-
-
-
-
3Gain-
NKAIN4-
-
-
-
5Amp-
NKAPD1-
-
-
-
1Loss-
NKD2p.S158L
Missense
SNP
0.471
2--
NKG7-
-
-
-
1Loss-
NKIRAS1-
-
-
-
1Loss-
NKIRAS2-
-
-
-
3Gain-
NKX2-5-
-
-
-
3Gain-
NLN-
-
-
-
3Gain-
NLRP10p.D451N
Missense
SNP
0.458
2--
NLRP13p.R842Q
Missense
SNP
0.386
2--
NLRP2p.G151E
Missense
SNP
0.430
2--
NLRP3-
-
-
-
3Gain-
NLRP4p.P563S
Missense
SNP
0.497
2--
NLRP7p.G183E
Missense
SNP
0.495
2--
NLRP8p.G172E
Missense
SNP
0.475
2--
NLRX1-
-
-
-
1Loss-
NMB-
-
-
-
3Gain-
NME1-
-
-
-
3Gain-
NME1-NME2-
-
-
-
3Gain-
NME5-
-
-
-
3Gain-
NME7-
-
-
-
3Gain-
NME8-
-
-
-
3Gain-
NMNAT1-
-
-
-
3Gain-
NMNAT2-
-
-
-
3Gain-
NMRK2-
-
-
-
1Loss-
NMS-
-
-
-
1Loss-
NMT1-
-
-
-
3Gain-
NMUR2-
-
-
-
3Gain-
NNAT-
-
-
-
5Amp-
NNMT-
-
-
-
1Loss-
NOBOX-
-
-
-
3Gain-
NOC2L-
-
-
-
3Gain-
NOD1-
-
-
-
3Gain-
NOG-
-
-
-
3Gain-
NOL11-
-
-
-
3Gain-
NOL12-
-
-
-
3Gain-
NOL4L-
-
-
-
5Amp-
NOL7-
-
-
-
3Gain-
NOL9-
-
-
-
3Gain-
NOM1-
-
-
-
3Gain-
NOP10-
-
-
-
3Gain-
NOP16-
-
-
-
3Gain-
NOP2-
-
-
-
3Gain-
NOS1-
-
-
-
3Gain-
NOS1AP-
-
-
-
3Gain-
NOS3p.P851L
Missense
SNP
0.667
3Gain-
NOTCH2-
-
-
-
3Gain-
NOTCH2NLA-
-
-
-
3Gain-
NOTCH3p.P2201S
Missense
SNP
0.385
2--
NOTCH4-
-
-
-
3Gain-
NOTUM-
-
-
-
3Gain-
NOX4-
-
-
-
3Gain-
NOX5-
-
-
-
3Gain-
NPAP1p.G1072E
Missense
SNP
0.338
3Gain-
NPAS2-
-
-
-
1Loss-
NPAS4-
-
-
-
3Gain-
NPAT-
-
-
-
1Loss-
NPB-
-
-
-
3Gain-
NPBWR2-
-
-
-
5Amp-
NPC1L1-
-
-
-
3Gain-
NPEPL1-
-
-
-
5Amp-
NPEPPSp.G169V
Missense
SNP
0.613
3Gain-
NPHP1-
-
-
-
1Loss-
NPHP4-
-
-
-
3Gain-
NPHS1p.G779R
Missense
SNP
0.449
2--
NPHS2-
-
-
-
3Gain-
NPL-
-
-
-
3Gain-
NPLOC4-
-
-
-
3Gain-
NPM1-
-
-
-
3Gain-
NPPA-
-
-
-
3Gain-
NPPB-
-
-
-
3Gain-
NPR1-
-
-
-
3Gain-
NPSR1p.G38R
Missense
SNP
0.449
3Gain-
NPTN-
-
-
-
3Gain-
NPTX1-
-
-
-
3Gain-
NPTX2-
-
-
-
3Gain-
NPTXRp.A438V
Missense
SNP
1.000
3Gain-
NPVF-
-
-
-
3Gain-
NPY-
-
-
-
3Gain-
NPY2Rp.P182S
Missense
SNP
0.989
2--
NR0B2-
-
-
-
3Gain-
NR1D1-
-
-
-
3Gain-
NR1D2-
-
-
-
1Loss-
NR1I3-
-
-
-
3Gain-
NR2C2-
-
-
-
1Loss-
NR2E3-
-
-
-
3Gain-
NR2F1-
-
-
-
3Gain-
NR2F2-
-
-
-
3Gain-
NR3C1-
-
-
-
3Gain-
NR5A2-
-
-
-
3Gain-
NRAS-
-
-
-
3Gain-
NRCAM-
-
-
-
3Gain-
NRDC-
-
-
-
3Gain-
NREPp.E14K
Missense
SNP
0.605
3Gain-
NRF1-
-
-
-
3Gain-
NRG2-
-
-
-
3Gain-
NRG4-
-
-
-
3Gain-
NRGN-
-
-
-
1Loss-
NRIP2-
-
-
-
3Gain-
NRSN1-
-
-
-
3Gain-
NRXN2-
-
-
-
3Gain-
NSA2-
-
-
-
3Gain-
NSD1-
-
-
-
3Gain-
NSF-
-
-
-
1Loss-
NSG2-
-
-
-
3Gain-
NSL1-
-
-
-
3Gain-
NSMAF-
-
-
-
3Gain-
NSMCE3-
-
-
-
3Gain-
NSUN4-
-
-
-
3Gain-
NSUN5-
-
-
-
3Gain-
NT5C-
-
-
-
3Gain-
NT5C1A-
-
-
-
3Gain-
NT5C3A-
-
-
-
3Gain-
NT5C3B-
-
-
-
3Gain-
NT5DC3-
-
-
-
3Gain-
NT5DC4-
-
-
-
1Loss-
NT5E-
-
-
-
3Gain-
NTF3-
-
-
-
3Gain-
NTM-
-
-
-
1Loss-
NTNG1-
-
-
-
3Gain-
NTPCR-
-
-
-
3Gain-
NTRK1-
-
-
-
3Gain-
NTRK2p.S217F
Missense
SNP
0.526
2--
NTRK3-
-
-
-
3Gain-
NTSR1-
-
-
-
5Amp-
NUAK1-
-
-
-
1Loss-
NUAK2-
-
-
-
3Gain-
NUB1-
-
-
-
3Gain-
NUDC-
-
-
-
3Gain-
NUDCD1-
-
-
-
3Gain-
NUDCD2-
-
-
-
3Gain-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT12-
-
-
-
3Gain-
NUDT17-
-
-
-
3Gain-
NUDT22-
-
-
-
3Gain-
NUDT3-
-
-
-
3Gain-
NUDT4B-
-
-
-
3Gain-
NUDT8-
-
-
-
3Gain-
NUF2-
-
-
-
3Gain-
NUMA1-
-
-
-
3Gain-
NUP133-
-
-
-
3Gain-
NUP153-
-
-
-
3Gain-
NUP205-
-
-
-
3Gain-
NUP210-
-
-
-
1Loss-
NUP210L-
-
-
-
3Gain-
NUP37-
-
-
-
3Gain-
NUP50-
-
-
-
3Gain-
NUP85-
-
-
-
3Gain-
NUPL2-
-
-
-
3Gain-
NUPR2-
-
-
-
3Gain-
NUSAP1-
-
-
-
3Gain-
NUTM1p.D757N
Missense
SNP
0.246
3Gain-
NVL-
-
-
-
3Gain-
NWD1p.W1155*
Nonsense
SNP
0.464
2--
NXF1-
-
-
-
3Gain-
NXPE1-
-
-
-
1Loss-
NXPE2-
-
-
-
1Loss-
NXPE4-
-
-
-
1Loss-
NXPH1-
-
-
-
3Gain-
NXPH3-
-
-
-
3Gain-
NYAP1-
-
-
-
3Gain-
NYAP2p.S528L
Missense
SNP
0.413
2--
OAF-
-
-
-
1Loss-
OARD1-
-
-
-
3Gain-
OAS1-
-
-
-
3Gain-
OAS2-
-
-
-
3Gain-
OAS3-
-
-
-
3Gain-
OASL-
-
-
-
3Gain-
OAZ1-
-
-
-
1Loss-
OAZ2-
-
-
-
3Gain-
OAZ3-
-
-
-
3Gain-
OBSCNp.S22L
Missense
SNP
0.383
3Gain-
OCA2-
-
-
-
3Gain-
OCLM-
-
-
-
3Gain-
OCLN-
-
-
-
3Gain-
OCM-
-
-
-
3Gain-
OCM2-
-
-
-
3Gain-
OCSTAMPp.G498E
Missense
SNP
0.442
5Amp-
ODF1-
-
-
-
3Gain-
ODF2L-
-
-
-
3Gain-
ODF3B-
-
-
-
3Gain-
ODF3L1-
-
-
-
3Gain-
ODF3L2-
-
-
-
1Loss-
ODR4-
-
-
-
3Gain-
OGDH-
-
-
-
3Gain-
OGDHLp.D465N
p.E286K
Missense
Missense
SNP
SNP
0.447
0.578
2--
OGFOD2-
-
-
-
3Gain-
OGFOD3-
-
-
-
3Gain-
OGFR-
-
-
-
5Amp-
OGFRL1-
-
-
-
3Gain-
OGG1-
-
-
-
1Loss-
OIP5-
-
-
-
3Gain-
OLFM3-
-
-
-
3Gain-
OLFML2B-
-
-
-
3Gain-
OLFML3-
-
-
-
3Gain-
OLR1-
-
-
-
3Gain-
OMA1-
-
-
-
3Gain-
OMP-
-
-
-
3Gain-
ONECUT1-
-
-
-
3Gain-
ONECUT3-
-
-
-
1Loss-
OOEP-
-
-
-
3Gain-
OOSP1-
-
-
-
3Gain-
OOSP2-
-
-
-
3Gain-
OPCML-
-
-
-
1Loss-
OPN1SW-
-
-
-
3Gain-
OPN3-
-
-
-
3Gain-
OPN5-
-
-
-
3Gain-
OPRD1-
-
-
-
3Gain-
OPRL1-
-
-
-
5Amp-
OPTC-
-
-
-
3Gain-
OR10A5p.P155S
Missense
SNP
0.522
2--
OR10A6p.M302I
Missense
SNP
0.515
2--
OR10AG1-
-
-
-
3Gain-
OR10D3-
-
-
-
1Loss-
OR10G4-
-
-
-
1Loss-
OR10G7-
-
-
-
1Loss-
OR10G8p.W172*
Nonsense
SNP
0.993
1Loss-
OR10G9-
-
-
-
1Loss-
OR10H4p.H246Y
Missense
SNP
0.491
2--
OR10J1-
-
-
-
3Gain-
OR10J3-
-
-
-
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10Q1-
-
-
-
3Gain-
OR10R2-
-
-
-
3Gain-
OR10S1-
-
-
-
1Loss-
OR10T2-
-
-
-
3Gain-
OR10V1-
-
-
-
3Gain-
OR10W1-
-
-
-
3Gain-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR11H4p.R132Q
Missense
SNP
1.000
2--
OR11L1-
-
-
-
3Gain-
OR13C4p.G285E
Missense
SNP
0.529
2--
OR13F1p.E159K
Missense
SNP
0.492
2--
OR13G1-
-
-
-
3Gain-
OR14A16-
-
-
-
3Gain-
OR14A2-
-
-
-
3Gain-
OR14C36-
-
-
-
3Gain-
OR14I1-
-
-
-
3Gain-
OR14K1-
-
-
-
3Gain-
OR1C1-
-
-
-
3Gain-
OR1L3p.M296I
Missense
SNP
0.440
2--
OR1S1p.S85F
Missense
SNP
0.326
3Gain-
OR1S2-
-
-
-
3Gain-
OR2A1-
-
-
-
3Gain-
OR2A12-
-
-
-
3Gain-
OR2A14-
-
-
-
3Gain-
OR2A2-
-
-
-
3Gain-
OR2A25p.H158Y
Missense
SNP
0.528
3Gain-
OR2A42-
-
-
-
3Gain-
OR2A5-
-
-
-
3Gain-
OR2A7-
-
-
-
3Gain-
OR2AE1-
-
-
-
3Gain-
OR2AG1p.S93F
Missense
SNP
0.389
2--
OR2AJ1-
-
-
-
3Gain-
OR2AK2-
-
-
-
3Gain-
OR2AT4-
-
-
-
3Gain-
OR2B11-
-
-
-
3Gain-
OR2B6p.S67L
p.H176Y
Missense
Missense
SNP
SNP
0.640
0.589
2--
OR2C3-
-
-
-
3Gain-
OR2F1-
-
-
-
3Gain-
OR2F2-
-
-
-
3Gain-
OR2G2-
-
-
-
3Gain-
OR2G3-
-
-
-
3Gain-
OR2G6-
-
-
-
3Gain-
OR2L13-
-
-
-
3Gain-
OR2L2-
-
-
-
3Gain-
OR2L3p.L47F
Missense
SNP
0.344
3Gain-
OR2L5-
-
-
-
3Gain-
OR2L8-
-
-
-
3Gain-
OR2M2-
-
-
-
3Gain-
OR2M3-
-
-
-
3Gain-
OR2M4-
-
-
-
3Gain-
OR2M5-
-
-
-
3Gain-
OR2M7-
-
-
-
3Gain-
OR2T1-
-
-
-
3Gain-
OR2T10p.S264F
Missense
SNP
0.582
3Gain-
OR2T11-
-
-
-
3Gain-
OR2T12-
-
-
-
3Gain-
OR2T2p.S154F
Missense
SNP
0.227
3Gain-
OR2T27-
-
-
-
3Gain-
OR2T29-
-
-
-
3Gain-
OR2T3-
-
-
-
3Gain-
OR2T33-
-
-
-
3Gain-
OR2T34-
-
-
-
3Gain-
OR2T35-
-
-
-
3Gain-
OR2T4-
-
-
-
3Gain-
OR2T5-
-
-
-
3Gain-
OR2T6-
-
-
-
3Gain-
OR2T8-
-
-
-
3Gain-
OR2V1-
-
-
-
3Gain-
OR2V2-
-
-
-
3Gain-
OR2W3-
-
-
-
3Gain-
OR2Y1-
-
-
-
3Gain-
OR4A5p.H173Y
Missense
SNP
0.664
2--
OR4C16p.S150F
Missense
SNP
0.319
2--
OR4C6-
-
-
-
3Gain-
OR4D1-
-
-
-
3Gain-
OR4D10-
-
-
-
3Gain-
OR4D11p.M294I
Missense
SNP
0.308
3Gain-
OR4D2-
-
-
-
3Gain-
OR4D5-
-
-
-
1Loss-
OR4D6-
-
-
-
3Gain-
OR4D9-
-
-
-
3Gain-
OR4F15-
-
-
-
3Gain-
OR4F17-
-
-
-
1Loss-
OR4F4-
-
-
-
3Gain-
OR4F5-
-
-
-
3Gain-
OR4F6-
-
-
-
3Gain-
OR4M2-
-
-
-
3Gain-
OR4N4-
-
-
-
3Gain-
OR51A2p.G43E
Missense
SNP
0.520
2--
OR51B4p.S99F
Missense
SNP
0.503
2--
OR52A5p.H145Y
Missense
SNP
0.480
2--
OR52E2p.E317K
Missense
SNP
0.412
2--
OR52I2p.P320S
Missense
SNP
0.475
2--
OR52K1p.P20S
Missense
SNP
0.408
2--
OR56A4p.P324S
Missense
SNP
0.508
2--
OR56B1p.G25R
Missense
SNP
0.452
2--
OR5A1-
-
-
-
3Gain-
OR5A2p.E297K
Missense
SNP
0.354
3Gain-
OR5AK2-
-
-
-
3Gain-
OR5AN1-
-
-
-
3Gain-
OR5AP2-
-
-
-
3Gain-
OR5AR1-
-
-
-
3Gain-
OR5AS1-
-
-
-
3Gain-
OR5B12-
-
-
-
3Gain-
OR5B17-
-
-
-
3Gain-
OR5B2-
-
-
-
3Gain-
OR5B21-
-
-
-
3Gain-
OR5B3-
-
-
-
3Gain-
OR5D13-
-
-
-
3Gain-
OR5D14-
-
-
-
3Gain-
OR5D16-
-
-
-
3Gain-
OR5D18-
-
-
-
3Gain-
OR5F1-
-
-
-
3Gain-
OR5H1p.R122C
p.G204S
Missense
Missense
SNP
SNP
0.544
0.394
2--
OR5H15p.S239F
Missense
SNP
0.474
2--
OR5H6p.P299S
Missense
SNP
0.464
2--
OR5I1p.S158F
Missense
SNP
0.361
3Gain-
OR5J2-
-
-
-
3Gain-
OR5L1-
-
-
-
3Gain-
OR5L2-
-
-
-
3Gain-
OR5M1-
-
-
-
3Gain-
OR5M10-
-
-
-
3Gain-
OR5M11p.L15F
Missense
SNP
0.228
3Gain-
OR5M3-
-
-
-
3Gain-
OR5M8-
-
-
-
3Gain-
OR5M9-
-
-
-
3Gain-
OR5R1-
-
-
-
3Gain-
OR5T1-
-
-
-
3Gain-
OR5T2-
-
-
-
3Gain-
OR5T3p.D50N
Missense
SNP
0.675
3Gain-
OR5W2-
-
-
-
3Gain-
OR6B1-
-
-
-
3Gain-
OR6F1-
-
-
-
3Gain-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6M1-
-
-
-
1Loss-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1p.L27F
Missense
SNP
0.667
3Gain-
OR6Q1-
-
-
-
3Gain-
OR6T1-
-
-
-
1Loss-
OR6V1-
-
-
-
3Gain-
OR6X1-
-
-
-
1Loss-
OR6Y1-
-
-
-
3Gain-
OR8A1-
-
-
-
1Loss-
OR8B12-
-
-
-
1Loss-
OR8B2-
-
-
-
1Loss-
OR8B3-
-
-
-
1Loss-
OR8B4-
-
-
-
1Loss-
OR8B8-
-
-
-
1Loss-
OR8D1-
-
-
-
1Loss-
OR8D2-
-
-
-
1Loss-
OR8D4-
-
-
-
1Loss-
OR8G1-
-
-
-
1Loss-
OR8G5-
-
-
-
1Loss-
OR8H1-
-
-
-
3Gain-
OR8H2-
-
-
-
3Gain-
OR8H3-
-
-
-
3Gain-
OR8I2-
-
-
-
3Gain-
OR8J1-
-
-
-
3Gain-
OR8J3-
-
-
-
3Gain-
OR8K1-
-
-
-
3Gain-
OR8K3-
-
-
-
3Gain-
OR8K5-
-
-
-
3Gain-
OR8S1p.E324K
Missense
SNP
1.000
2--
OR8U1-
-
-
-
3Gain-
OR9A2-
-
-
-
3Gain-
OR9A4-
-
-
-
3Gain-
OR9G1-
-
-
-
3Gain-
OR9G4-
-
-
-
3Gain-
OR9I1-
-
-
-
3Gain-
OR9Q1-
-
-
-
3Gain-
OR9Q2p.E196K
Missense
SNP
0.337
3Gain-
ORAI1-
-
-
-
3Gain-
ORAI2-
-
-
-
3Gain-
ORC1-
-
-
-
3Gain-
ORC3-
-
-
-
3Gain-
ORC5-
-
-
-
3Gain-
ORMDL3-
-
-
-
3Gain-
OSBP-
-
-
-
3Gain-
OSBP2-
-
-
-
3Gain-
OSBPL10-
-
-
-
1Loss-
OSBPL2-
-
-
-
5Amp-
OSBPL3-
-
-
-
3Gain-
OSBPL6p.G805R
Missense
SNP
0.552
2--
OSBPL7-
-
-
-
3Gain-
OSBPL9-
-
-
-
3Gain-
OSCP1-
-
-
-
3Gain-
OSER1-
-
-
-
5Amp-
OSGIN1p.S3F
Missense
SNP
0.582
2--
OSGIN2-
-
-
-
3Gain-
OSM-
-
-
-
3Gain-
OSMRp.S178F
p.G220E
p.E696K
Missense
Missense
Missense
SNP
SNP
SNP
0.419
0.457
0.494
2--
OSR2-
-
-
-
3Gain-
OTCp.D126N
Missense
SNP
1.000
NDND-
OTOFp.R414P
Missense
SNP
0.103
2--
OTOGLp.E1924K
Missense
SNP
1.000
2--
OTOL1p.S391F
Missense
SNP
0.407
2--
OTOP2-
-
-
-
3Gain-
OTOP3-
-
-
-
3Gain-
OTP-
-
-
-
3Gain-
OTUB1-
-
-
-
3Gain-
OTUD3-
-
-
-
3Gain-
OTUD6Ap.E184K
p.A215T
Missense
Missense
SNP
SNP
1.000
0.994
NDND-
OTUD6B-
-
-
-
3Gain-
OTUD7A-
-
-
-
3Gain-
OTUD7B-
-
-
-
3Gain-
OTX1-
-
-
-
3Gain-
OVCH1-
-
-
-
3Gain-
OVGP1-
-
-
-
3Gain-
OVOL1-
-
-
-
3Gain-
OXCT2-
-
-
-
3Gain-
OXLD1-
-
-
-
3Gain-
OXNAD1-
-
-
-
1Loss-
OXR1-
-
-
-
3Gain-
OXSM-
-
-
-
1Loss-
OXTR-
-
-
-
1Loss-
P2RX3-
-
-
-
3Gain-
P2RX4-
-
-
-
3Gain-
P2RX6-
-
-
-
3Gain-
P2RX7-
-
-
-
3Gain-
P2RY2-
-
-
-
3Gain-
P2RY6-
-
-
-
3Gain-
P3H1-
-
-
-
3Gain-
P3H3-
-
-
-
3Gain-
P3H4-
-
-
-
3Gain-
P4HA2-
-
-
-
3Gain-
P4HA3-
-
-
-
3Gain-
P4HB-
-
-
-
3Gain-
PAAF1-
-
-
-
3Gain-
PABPC1-
-
-
-
3Gain-
PABPC1L-
-
-
-
5Amp-
PABPC4-
-
-
-
3Gain-
PABPN1-
-
-
-
1Loss-
PACS1p.S801F
Missense
SNP
0.299
3Gain-
PACSIN1-
-
-
-
3Gain-
PACSIN2-
-
-
-
3Gain-
PADI1-
-
-
-
3Gain-
PADI2-
-
-
-
3Gain-
PADI3-
-
-
-
3Gain-
PADI4-
-
-
-
3Gain-
PADI6-
-
-
-
3Gain-
PAFAH1B2-
-
-
-
1Loss-
PAFAH2-
-
-
-
3Gain-
PAG1-
-
-
-
3Gain-
PAH-
-
-
-
3Gain-
PAIP2-
-
-
-
3Gain-
PAK1-
-
-
-
3Gain-
PAK1IP1-
-
-
-
3Gain-
PAK6-
-
-
-
3Gain-
PALM-
-
-
-
1Loss-
PALMD-
-
-
-
3Gain-
PAM-
-
-
-
3Gain-
PANK3-
-
-
-
3Gain-
PANK4-
-
-
-
3Gain-
PANX1-
-
-
-
3Gain-
PANX2-
-
-
-
3Gain-
PANX3-
-
-
-
1Loss-
PAPOLB-
-
-
-
3Gain-
PAPPA2p.E182K
p.P276S
p.V1120M
p.E1705K
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.313
0.203
0.246
0.326
3Gain-
PAQR5-
-
-
-
3Gain-
PAQR6-
-
-
-
3Gain-
PAQR7-
-
-
-
3Gain-
PAQR8-
-
-
-
3Gain-
PARD6B-
-
-
-
5Amp-
PARK7-
-
-
-
3Gain-
PARP1-
-
-
-
3Gain-
PARP11-
-
-
-
3Gain-
PARP12-
-
-
-
3Gain-
PARP16-
-
-
-
3Gain-
PARP6-
-
-
-
3Gain-
PARP8-
-
-
-
5Amp-
PARPBP-
-
-
-
3Gain-
PARS2-
-
-
-
3Gain-
PARVB-
-
-
-
3Gain-
PARVG-
-
-
-
3Gain-
PATE1-
-
-
-
1Loss-
PATE2-
-
-
-
1Loss-
PATE3-
-
-
-
1Loss-
PATE4-
-
-
-
1Loss-
PATJ-
-
-
-
3Gain-
PATL1-
-
-
-
3Gain-
PATL2-
-
-
-
3Gain-
PATZ1-
-
-
-
3Gain-
PAX4-
-
-
-
3Gain-
PAX7-
-
-
-
3Gain-
PAX8-
-
-
-
1Loss-
PAXIP1-
-
-
-
3Gain-
PBX1-
-
-
-
3Gain-
PBX2-
-
-
-
3Gain-
PBXIP1-
-
-
-
3Gain-
PC-
-
-
-
3Gain-
PCBD2-
-
-
-
3Gain-
PCDH1-
-
-
-
3Gain-
PCDH12-
-
-
-
3Gain-
PCDH15p.S1902L
p.P1425L
p.D93N
Missense
Missense
Missense
SNP
SNP
SNP
0.492
0.667
0.465
2--
PCDH18p.D388N
Missense
SNP
1.000
2--
PCDH19p.H956Y
Missense
SNP
0.446
NDND-
PCDHA1-
-
-
-
3Gain-
PCDHA10-
-
-
-
3Gain-
PCDHA11p.P153S
Missense
SNP
0.653
3Gain-
PCDHA12-
-
-
-
3Gain-
PCDHA13p.E204K
Missense
SNP
0.657
3Gain-
PCDHA2-
-
-
-
3Gain-
PCDHA3-
-
-
-
3Gain-
PCDHA4-
-
-
-
3Gain-
PCDHA5-
-
-
-
3Gain-
PCDHA6-
-
-
-
3Gain-
PCDHA7-
-
-
-
3Gain-
PCDHA8-
-
-
-
3Gain-
PCDHA9-
-
-
-
3Gain-
PCDHAC1-
-
-
-
3Gain-
PCDHAC2p.P819S
Missense
SNP
0.260
3Gain-
PCDHB1-
-
-
-
3Gain-
PCDHB10-
-
-
-
3Gain-
PCDHB11-
-
-
-
3Gain-
PCDHB12p.E522K
Missense
SNP
0.629
3Gain-
PCDHB13-
-
-
-
3Gain-
PCDHB14-
-
-
-
3Gain-
PCDHB15-
-
-
-
3Gain-
PCDHB16-
-
-
-
3Gain-
PCDHB2-
-
-
-
3Gain-
PCDHB3p.G155E
Missense
SNP
0.362
3Gain-
PCDHB4-
-
-
-
3Gain-
PCDHB5-
-
-
-
3Gain-
PCDHB6p.P152S
p.S272L
Missense
Missense
SNP
SNP
0.320
0.318
3Gain-
PCDHB7p.L194S
Missense
SNP
0.333
3Gain-
PCDHB8-
-
-
-
3Gain-
PCDHB9-
-
-
-
3Gain-
PCDHGA1-
-
-
-
3Gain-
PCDHGA10-
-
-
-
3Gain-
PCDHGA11-
-
-
-
3Gain-
PCDHGA12-
-
-
-
3Gain-
PCDHGA2p.E756K
Missense
SNP
0.581
3Gain-
PCDHGA3-
-
-
-
3Gain-
PCDHGA4-
-
-
-
3Gain-
PCDHGA5-
-
-
-
3Gain-
PCDHGA6-
-
-
-
3Gain-
PCDHGA7-
-
-
-
3Gain-
PCDHGA8-
-
-
-
3Gain-
PCDHGA9-
-
-
-
3Gain-
PCDHGB1-
-
-
-
3Gain-
PCDHGB2-
-
-
-
3Gain-
PCDHGB3-
-
-
-
3Gain-
PCDHGB4-
-
-
-
3Gain-
PCDHGB5-
-
-
-
3Gain-
PCDHGB6-
-
-
-
3Gain-
PCDHGB7-
-
-
-
3Gain-
PCDHGC3-
-
-
-
3Gain-
PCDHGC4-
-
-
-
3Gain-
PCDHGC5-
-
-
-
3Gain-
PCF11-
-
-
-
3Gain-
PCGF2-
-
-
-
3Gain-
PCIF1-
-
-
-
5Amp-
PCK1-
-
-
-
5Amp-
PCLAF-
-
-
-
3Gain-
PCLOp.S3129L
p.S2556F
p.D1897N
Missense
Missense
Missense
SNP
SNP
SNP
0.560
0.456
0.450
3Gain-
PCMTD2-
-
-
-
5Amp-
PCNX2-
-
-
-
3Gain-
PCNX3-
-
-
-
3Gain-
PCOLCE-
-
-
-
3Gain-
PCP4L1-
-
-
-
3Gain-
PCSK1-
-
-
-
3Gain-
PCSK4-
-
-
-
1Loss-
PCSK6p.G196E
Missense
SNP
0.705
3Gain-
PCSK7-
-
-
-
1Loss-
PCSK9-
-
-
-
3Gain-
PCTP-
-
-
-
3Gain-
PCYOX1L-
-
-
-
3Gain-
PCYT2-
-
-
-
3Gain-
PDAP1-
-
-
-
3Gain-
PDC-
-
-
-
3Gain-
PDCD6IP-
-
-
-
1Loss-
PDCD7-
-
-
-
3Gain-
PDCL3-
-
-
-
1Loss-
PDE1C-
-
-
-
3Gain-
PDE2Ap.H748Y
Missense
SNP
0.250
3Gain-
PDE3A-
-
-
-
3Gain-
PDE4B-
-
-
-
3Gain-
PDE4D-
-
-
-
3Gain-
PDE4DIP-
-
-
-
3Gain-
PDE6A-
-
-
-
3Gain-
PDE6G-
-
-
-
3Gain-
PDE6H-
-
-
-
3Gain-
PDE7A-
-
-
-
3Gain-
PDE8A-
-
-
-
3Gain-
PDE8B-
-
-
-
3Gain-
PDGFA-
-
-
-
3Gain-
PDGFB-
-
-
-
3Gain-
PDGFD-
-
-
-
1Loss-
PDGFRB-
-
-
-
3Gain-
PDIA3-
-
-
-
3Gain-
PDIA4-
-
-
-
3Gain-
PDIK1L-
-
-
-
3Gain-
PDK2-
-
-
-
3Gain-
PDK4-
-
-
-
3Gain-
PDLIM4-
-
-
-
3Gain-
PDLIM7-
-
-
-
3Gain-
PDP1-
-
-
-
3Gain-
PDPN-
-
-
-
3Gain-
PDRG1-
-
-
-
5Amp-
PDXP-
-
-
-
3Gain-
PDZD3-
-
-
-
1Loss-
PDZK1-
-
-
-
3Gain-
PDZK1IP1-
-
-
-
3Gain-
PEA15-
-
-
-
3Gain-
PEAK1-
-
-
-
3Gain-
PEAK3-
-
-
-
1Loss-
PEAR1p.G952E
Missense
SNP
0.376
3Gain-
PEBP1-
-
-
-
3Gain-
PECAM1-
-
-
-
3Gain-
PEF1-
-
-
-
3Gain-
PEG10-
-
-
-
3Gain-
PELI3-
-
-
-
3Gain-
PELO-
-
-
-
3Gain-
PENK-
-
-
-
3Gain-
PER3-
-
-
-
3Gain-
PERM1-
-
-
-
3Gain-
PES1-
-
-
-
3Gain-
PEX1-
-
-
-
3Gain-
PEX10-
-
-
-
3Gain-
PEX11A-
-
-
-
3Gain-
PEX11B-
-
-
-
3Gain-
PEX14-
-
-
-
3Gain-
PEX19-
-
-
-
3Gain-
PEX2-
-
-
-
3Gain-
PEX26-
-
-
-
3Gain-
PEX5-
-
-
-
3Gain-
PEX6-
-
-
-
3Gain-
PFDN1-
-
-
-
3Gain-
PFDN2-
-
-
-
3Gain-
PFDN4-
-
-
-
5Amp-
PFDN6-
-
-
-
3Gain-
PFKFB2-
-
-
-
3Gain-
PFN3-
-
-
-
3Gain-
PGA3-
-
-
-
3Gain-
PGA4-
-
-
-
3Gain-
PGA5-
-
-
-
3Gain-
PGAM2-
-
-
-
3Gain-
PGAP3-
-
-
-
3Gain-
PGBD2-
-
-
-
3Gain-
PGBD4-
-
-
-
3Gain-
PGBD5-
-
-
-
3Gain-
PGC-
-
-
-
3Gain-
PGD-
-
-
-
3Gain-
PGGT1B-
-
-
-
3Gain-
PGK2-
-
-
-
3Gain-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGM1-
-
-
-
3Gain-
PGM2L1-
-
-
-
3Gain-
PGM3-
-
-
-
3Gain-
PGM5p.E416K
Missense
SNP
0.459
2--
PGPEP1L-
-
-
-
3Gain-
PGR-
-
-
-
1Loss-
PGS1-
-
-
-
3Gain-
PHACTR1-
-
-
-
3Gain-
PHACTR3-
-
-
-
5Amp-
PHACTR4-
-
-
-
3Gain-
PHAX-
-
-
-
3Gain-
PHB-
-
-
-
3Gain-
PHB2-
-
-
-
3Gain-
PHC1-
-
-
-
3Gain-
PHC2-
-
-
-
3Gain-
PHETA1-
-
-
-
3Gain-
PHETA2-
-
-
-
3Gain-
PHF1-
-
-
-
3Gain-
PHF13-
-
-
-
3Gain-
PHF14-
-
-
-
3Gain-
PHF20-
-
-
-
5Amp-
PHF21B-
-
-
-
3Gain-
PHF3p.P1444S
Missense
SNP
0.643
3Gain-
PHF5A-
-
-
-
3Gain-
PHGDH-
-
-
-
3Gain-
PHGR1-
-
-
-
3Gain-
PHIP-
-
-
-
3Gain-
PHKG1-
-
-
-
3Gain-
PHLDA3-
-
-
-
3Gain-
PHLDB1-
-
-
-
1Loss-
PHLDB2p.E435*
Nonsense
SNP
0.367
2--
PHLDB3-
-
-
-
1Loss-
PHOSPHO1-
-
-
-
3Gain-
PHOX2A-
-
-
-
3Gain-
PHTF1-
-
-
-
3Gain-
PHTF2-
-
-
-
3Gain-
PHYKPL-
-
-
-
3Gain-
PI15-
-
-
-
3Gain-
PI16-
-
-
-
3Gain-
PI3-
-
-
-
5Amp-
PI4KA-
-
-
-
3Gain-
PI4KB-
-
-
-
3Gain-
PIANP-
-
-
-
3Gain-
PIAS1-
-
-
-
3Gain-
PIAS3-
-
-
-
3Gain-
PIAS4-
-
-
-
1Loss-
PICALM-
-
-
-
3Gain-
PICK1-
-
-
-
3Gain-
PIF1-
-
-
-
3Gain-
PIFOp.P142T
Missense
SNP
0.465
3Gain-
PIGB-
-
-
-
3Gain-
PIGC-
-
-
-
3Gain-
PIGK-
-
-
-
3Gain-
PIGM-
-
-
-
3Gain-
PIGR-
-
-
-
3Gain-
PIGT-
-
-
-
5Amp-
PIGU-
-
-
-
5Amp-
PIGV-
-
-
-
3Gain-
PIH1D2-
-
-
-
1Loss-
PIK3C2B-
-
-
-
3Gain-
PIK3C2G-
-
-
-
3Gain-
PIK3CD-
-
-
-
3Gain-
PIK3CG-
-
-
-
3Gain-
PIK3IP1-
-
-
-
3Gain-
PIK3R1-
-
-
-
3Gain-
PIK3R3-
-
-
-
3Gain-
PILRA-
-
-
-
3Gain-
PILRB-
-
-
-
3Gain-
PIM1-
-
-
-
3Gain-
PIM3-
-
-
-
3Gain-
PINK1-
-
-
-
3Gain-
PINLYP-
-
-
-
1Loss-
PIP-
-
-
-
3Gain-
PIP4K2B-
-
-
-
3Gain-
PIP4P2-
-
-
-
3Gain-
PIP5K1A-
-
-
-
3Gain-
PIP5K1C-
-
-
-
1Loss-
PISD-
-
-
-
3Gain-
PITHD1-
-
-
-
3Gain-
PITPNB-
-
-
-
3Gain-
PITPNC1-
-
-
-
3Gain-
PITPNM1-
-
-
-
3Gain-
PITPNM2-
-
-
-
3Gain-
PITX1-
-
-
-
3Gain-
PIWIL2p.R200C
Missense
SNP
0.321
2--
PIWIL3-
-
-
-
3Gain-
PIWIL4-
-
-
-
3Gain-
PJA2-
-
-
-
3Gain-
PKD1L1-
-
-
-
3Gain-
PKD1L3p.E374K
Missense
SNP
0.655
2--
PKD2L2-
-
-
-
3Gain-
PKDREJ-
-
-
-
3Gain-
PKHD1-
-
-
-
3Gain-
PKHD1L1p.G913E
Missense
SNP
0.679
3Gain-
PKIA-
-
-
-
3Gain-
PKIG-
-
-
-
5Amp-
PKLR-
-
-
-
3Gain-
PKM-
-
-
-
3Gain-
PKN2-
-
-
-
3Gain-
PKNOX2-
-
-
-
1Loss-
PKP1-
-
-
-
3Gain-
PKP2-
-
-
-
3Gain-
PLA2G16-
-
-
-
3Gain-
PLA2G1B-
-
-
-
3Gain-
PLA2G2A-
-
-
-
3Gain-
PLA2G2C-
-
-
-
3Gain-
PLA2G2D-
-
-
-
3Gain-
PLA2G2E-
-
-
-
3Gain-
PLA2G2F-
-
-
-
3Gain-
PLA2G3-
-
-
-
3Gain-
PLA2G4A-
-
-
-
3Gain-
PLA2G4B-
-
-
-
3Gain-
PLA2G4D-
-
-
-
3Gain-
PLA2G4E-
-
-
-
3Gain-
PLA2G4F-
-
-
-
3Gain-
PLA2G5-
-
-
-
3Gain-
PLA2G6-
-
-
-
3Gain-
PLA2G7-
-
-
-
3Gain-
PLAC8L1-
-
-
-
3Gain-
PLAG1-
-
-
-
3Gain-
PLAGL2-
-
-
-
5Amp-
PLAUR-
-
-
-
1Loss-
PLBD1-
-
-
-
3Gain-
PLBD2-
-
-
-
3Gain-
PLCB2-
-
-
-
3Gain-
PLCB3-
-
-
-
3Gain-
PLCD3-
-
-
-
3Gain-
PLCG1-
-
-
-
5Amp-
PLCG2p.D883N
Missense
SNP
0.511
2--
PLCH1p.R215Q
Missense
SNP
0.478
2--
PLCH2-
-
-
-
3Gain-
PLCL2-
-
-
-
1Loss-
PLCZ1-
-
-
-
3Gain-
PLD4-
-
-
-
1Loss-
PLD5-
-
-
-
3Gain-
PLEKHA5-
-
-
-
3Gain-
PLEKHA6-
-
-
-
3Gain-
PLEKHA8-
-
-
-
3Gain-
PLEKHB1-
-
-
-
3Gain-
PLEKHB2-
-
-
-
1Loss-
PLEKHF2-
-
-
-
3Gain-
PLEKHG4Bp.G71E
Missense
SNP
0.516
2--
PLEKHG5-
-
-
-
3Gain-
PLEKHG6-
-
-
-
3Gain-
PLEKHH2p.Q391*
Nonsense
SNP
0.496
2--
PLEKHH3-
-
-
-
3Gain-
PLEKHJ1-
-
-
-
1Loss-
PLEKHM1-
-
-
-
3Gain-
PLEKHM2-
-
-
-
3Gain-
PLEKHN1-
-
-
-
3Gain-
PLEKHO1-
-
-
-
3Gain-
PLEKHO2-
-
-
-
3Gain-
PLET1-
-
-
-
1Loss-
PLIN1-
-
-
-
3Gain-
PLIN3-
-
-
-
1Loss-
PLIN4-
-
-
-
1Loss-
PLIN5-
-
-
-
1Loss-
PLK2-
-
-
-
3Gain-
PLK3-
-
-
-
3Gain-
PLK5-
-
-
-
1Loss-
PLOD1-
-
-
-
3Gain-
PLOD3-
-
-
-
3Gain-
PLPP1-
-
-
-
3Gain-
PLPP2-
-
-
-
1Loss-
PLPP3-
-
-
-
3Gain-
PLPPR3-
-
-
-
1Loss-
PLPPR4-
-
-
-
3Gain-
PLPPR5-
-
-
-
3Gain-
PLTP-
-
-
-
5Amp-
PLXDC1-
-
-
-
3Gain-
PLXNA2-
-
-
-
3Gain-
PLXNA4-
-
-
-
3Gain-
PLXNB2-
-
-
-
3Gain-
PM20D2-
-
-
-
3Gain-
PMCH-
-
-
-
3Gain-
PMEPA1-
-
-
-
5Amp-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PML-
-
-
-
3Gain-
PMM1-
-
-
-
3Gain-
PMP2-
-
-
-
3Gain-
PMPCB-
-
-
-
3Gain-
PMS2-
-
-
-
3Gain-
PMVK-
-
-
-
3Gain-
PNMT-
-
-
-
3Gain-
PNPLA1-
-
-
-
3Gain-
PNPLA3-
-
-
-
3Gain-
PNPLA5-
-
-
-
3Gain-
PNPLA8-
-
-
-
3Gain-
PNPO-
-
-
-
3Gain-
PNRC1-
-
-
-
3Gain-
PNRC2-
-
-
-
3Gain-
POC5-
-
-
-
3Gain-
PODN-
-
-
-
3Gain-
PODXL-
-
-
-
3Gain-
POFUT1-
-
-
-
5Amp-
POGK-
-
-
-
3Gain-
POGZ-
-
-
-
3Gain-
POLA2-
-
-
-
3Gain-
POLD2-
-
-
-
3Gain-
POLD3-
-
-
-
3Gain-
POLD4-
-
-
-
3Gain-
POLDIP3-
-
-
-
3Gain-
POLG-
-
-
-
3Gain-
POLG2-
-
-
-
3Gain-
POLH-
-
-
-
3Gain-
POLK-
-
-
-
3Gain-
POLMp.R229W
Missense
SNP
0.566
3Gain-
POLR1B-
-
-
-
1Loss-
POLR1C-
-
-
-
3Gain-
POLR2D-
-
-
-
1Loss-
POLR2E-
-
-
-
1Loss-
POLR2F-
-
-
-
3Gain-
POLR2G-
-
-
-
3Gain-
POLR2J-
-
-
-
3Gain-
POLR2J2-
-
-
-
3Gain-
POLR2J3-
-
-
-
3Gain-
POLR2K-
-
-
-
3Gain-
POLR2M-
-
-
-
3Gain-
POLR3B-
-
-
-
1Loss-
POLR3C-
-
-
-
3Gain-
POLR3G-
-
-
-
3Gain-
POLR3GL-
-
-
-
3Gain-
POLR3H-
-
-
-
3Gain-
POLRMT-
-
-
-
1Loss-
POM121-
-
-
-
3Gain-
POM121C-
-
-
-
3Gain-
POM121L12p.P103S
p.W128*
Missense
Nonsense
SNP
SNP
0.474
0.454
3Gain-
POMGNT1-
-
-
-
3Gain-
POMZP3-
-
-
-
3Gain-
PON1-
-
-
-
3Gain-
PON2-
-
-
-
3Gain-
PON3-
-
-
-
3Gain-
POP1p.Y636N
Missense
SNP
0.337
3Gain-
POP5-
-
-
-
3Gain-
POP7-
-
-
-
3Gain-
POR-
-
-
-
3Gain-
POT1-
-
-
-
3Gain-
POTEB-
-
-
-
3Gain-
POTEB2-
-
-
-
3Gain-
POU2AF1-
-
-
-
1Loss-
POU2F1-
-
-
-
3Gain-
POU2F3-
-
-
-
1Loss-
POU3F1-
-
-
-
3Gain-
POU3F3-
-
-
-
1Loss-
POU4F3-
-
-
-
3Gain-
POU5F2-
-
-
-
3Gain-
POU6F2-
-
-
-
3Gain-
PP2D1-
-
-
-
1Loss-
PPARA-
-
-
-
3Gain-
PPARD-
-
-
-
3Gain-
PPARG-
-
-
-
1Loss-
PPARGC1B-
-
-
-
3Gain-
PPCDC-
-
-
-
3Gain-
PPCS-
-
-
-
3Gain-
PPDPF-
-
-
-
5Amp-
PPFIA1-
-
-
-
3Gain-
PPFIA4-
-
-
-
3Gain-
PPFIBP1-
-
-
-
3Gain-
PPIA-
-
-
-
3Gain-
PPIB-
-
-
-
3Gain-
PPIC-
-
-
-
3Gain-
PPIE-
-
-
-
3Gain-
PPIH-
-
-
-
3Gain-
PPIL1-
-
-
-
3Gain-
PPIL2-
-
-
-
3Gain-
PPIP5K1-
-
-
-
3Gain-
PPIP5K2-
-
-
-
3Gain-
PPM1D-
-
-
-
3Gain-
PPM1E-
-
-
-
3Gain-
PPM1F-
-
-
-
3Gain-
PPM1J-
-
-
-
3Gain-
PPME1-
-
-
-
3Gain-
PPOX-
-
-
-
3Gain-
PPP1CA-
-
-
-
3Gain-
PPP1CC-
-
-
-
3Gain-
PPP1R12B-
-
-
-
3Gain-
PPP1R13B-
-
-
-
1Loss-
PPP1R14B-
-
-
-
3Gain-
PPP1R14D-
-
-
-
3Gain-
PPP1R15B-
-
-
-
3Gain-
PPP1R16B-
-
-
-
5Amp-
PPP1R17-
-
-
-
3Gain-
PPP1R1B-
-
-
-
3Gain-
PPP1R27-
-
-
-
3Gain-
PPP1R2B-
-
-
-
3Gain-
PPP1R32-
-
-
-
3Gain-
PPP1R35-
-
-
-
3Gain-
PPP1R3Ap.E707K
Missense
SNP
0.498
3Gain-
PPP1R3D-
-
-
-
5Amp-
PPP1R3E-
-
-
-
1Loss-
PPP1R42-
-
-
-
3Gain-
PPP1R8-
-
-
-
3Gain-
PPP1R9A-
-
-
-
3Gain-
PPP1R9B-
-
-
-
3Gain-
PPP2CA-
-
-
-
3Gain-
PPP2R1A-
-
-
-
1Loss-
PPP2R1B-
-
-
-
1Loss-
PPP2R2Bp.R129C
Missense
SNP
0.370
3Gain-
PPP2R5A-
-
-
-
3Gain-
PPP2R5B-
-
-
-
3Gain-
PPP2R5C-
-
-
-
1Loss-
PPP2R5D-
-
-
-
3Gain-
PPP6R2-
-
-
-
3Gain-
PPP6R3-
-
-
-
3Gain-
PPRC1p.R1454W
Missense
SNP
0.491
2--
PPT1-
-
-
-
3Gain-
PPT2-
-
-
-
3Gain-
PPT2-EGFL8-
-
-
-
3Gain-
PPTC7-
-
-
-
3Gain-
PPWD1-
-
-
-
3Gain-
PPY-
-
-
-
3Gain-
PQLC2-
-
-
-
3Gain-
PRAC1-
-
-
-
3Gain-
PRAC2-
-
-
-
3Gain-
PRAME-
-
-
-
3Gain-
PRAMEF1-
-
-
-
3Gain-
PRAMEF12-
-
-
-
3Gain-
PRAMEF18-
-
-
-
3Gain-
PRAMEF19-
-
-
-
3Gain-
PRAMEF2-
-
-
-
3Gain-
PRAMEF20-
-
-
-
3Gain-
PRB1-
-
-
-
3Gain-
PRB2-
-
-
-
3Gain-
PRB3-
-
-
-
3Gain-
PRB4-
-
-
-
3Gain-
PRC1-
-
-
-
3Gain-
PRCC-
-
-
-
3Gain-
PRCD-
-
-
-
3Gain-
PRCP-
-
-
-
3Gain-
PRDM10-
-
-
-
1Loss-
PRDM14-
-
-
-
3Gain-
PRDM16-
-
-
-
3Gain-
PRDM2-
-
-
-
3Gain-
PRDM6-
-
-
-
3Gain-
PRDX1-
-
-
-
3Gain-
PRDX5-
-
-
-
3Gain-
PRDX6-
-
-
-
3Gain-
PRELID1-
-
-
-
3Gain-
PRELID2-
-
-
-
3Gain-
PRELID3B-
-
-
-
5Amp-
PRELP-
-
-
-
3Gain-
PREX1-
-
-
-
5Amp-
PREX2-
-
-
-
3Gain-
PRG2-
-
-
-
3Gain-
PRG3-
-
-
-
3Gain-
PRG4-
-
-
-
3Gain-
PRH1-
-
-
-
3Gain-
PRH1-PRR4-
-
-
-
3Gain-
PRH2-
-
-
-
3Gain-
PRICKLE4-
-
-
-
3Gain-
PRIM2-
-
-
-
3Gain-
PRKAA2-
-
-
-
3Gain-
PRKAB1-
-
-
-
3Gain-
PRKAB2-
-
-
-
3Gain-
PRKACB-
-
-
-
3Gain-
PRKAG2-
-
-
-
3Gain-
PRKAR1A-
-
-
-
3Gain-
PRKAR1B-
-
-
-
3Gain-
PRKAR2B-
-
-
-
3Gain-
PRKCA-
-
-
-
3Gain-
PRKCZ-
-
-
-
3Gain-
PRKRIP1-
-
-
-
3Gain-
PRL-
-
-
-
3Gain-
PRMT6-
-
-
-
3Gain-
PRMT8-
-
-
-
3Gain-
PROB1-
-
-
-
3Gain-
PROC-
-
-
-
1Loss-
PROCR-
-
-
-
5Amp-
PRODH-
-
-
-
3Gain-
PROK1-
-
-
-
3Gain-
PROM2-
-
-
-
1Loss-
PROP1-
-
-
-
3Gain-
PROX1-
-
-
-
3Gain-
PRPF19-
-
-
-
3Gain-
PRPF3-
-
-
-
3Gain-
PRPF38A-
-
-
-
3Gain-
PRPF38B-
-
-
-
3Gain-
PRPF6-
-
-
-
5Amp-
PRPH2-
-
-
-
3Gain-
PRPS1L1p.E62K
Missense
SNP
0.481
3Gain-
PRPSAP1-
-
-
-
3Gain-
PRR11-
-
-
-
3Gain-
PRR14L-
-
-
-
3Gain-
PRR15-
-
-
-
3Gain-
PRR15L-
-
-
-
3Gain-
PRR16-
-
-
-
3Gain-
PRR23Ap.A200V
Missense
SNP
0.418
2--
PRR29-
-
-
-
3Gain-
PRR4-
-
-
-
3Gain-
PRR5-
-
-
-
3Gain-
PRR5-ARHGAP8-
-
-
-
3Gain-
PRR7-
-
-
-
3Gain-
PRR9-
-
-
-
3Gain-
PRRC1-
-
-
-
3Gain-
PRRC2C-
-
-
-
3Gain-
PRRT1-
-
-
-
3Gain-
PRRT3-
-
-
-
1Loss-
PRRT4-
-
-
-
3Gain-
PRRX1-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS2-
-
-
-
3Gain-
PRSS23-
-
-
-
3Gain-
PRSS35-
-
-
-
3Gain-
PRSS37-
-
-
-
3Gain-
PRSS38-
-
-
-
3Gain-
PRSS57-
-
-
-
1Loss-
PRSS58-
-
-
-
3Gain-
PRTG-
-
-
-
3Gain-
PRTN3-
-
-
-
1Loss-
PRUNE1-
-
-
-
3Gain-
PRXL2B-
-
-
-
3Gain-
PSD2-
-
-
-
3Gain-
PSD4-
-
-
-
1Loss-
PSEN2-
-
-
-
3Gain-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2p.S46F
Missense
SNP
0.532
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSG9-
-
-
-
1Loss-
PSKH2-
-
-
-
3Gain-
PSMA2-
-
-
-
3Gain-
PSMA4-
-
-
-
3Gain-
PSMA5-
-
-
-
3Gain-
PSMA7-
-
-
-
5Amp-
PSMB2-
-
-
-
3Gain-
PSMB3-
-
-
-
3Gain-
PSMB4-
-
-
-
3Gain-
PSMB8-
-
-
-
3Gain-
PSMB9-
-
-
-
3Gain-
PSMC2-
-
-
-
3Gain-
PSMC3IP-
-
-
-
3Gain-
PSMC5-
-
-
-
3Gain-
PSMD12-
-
-
-
3Gain-
PSMD3-
-
-
-
3Gain-
PSMD4-
-
-
-
3Gain-
PSMD9-
-
-
-
3Gain-
PSME3-
-
-
-
3Gain-
PSME4p.T976A
Missense
SNP
0.465
2--
PSMG3-
-
-
-
3Gain-
PSPH-
-
-
-
3Gain-
PSRC1-
-
-
-
3Gain-
PSTPIP1-
-
-
-
3Gain-
PTAFR-
-
-
-
3Gain-
PTBP1-
-
-
-
1Loss-
PTBP2-
-
-
-
3Gain-
PTCD1-
-
-
-
3Gain-
PTCD2-
-
-
-
3Gain-
PTCH2-
-
-
-
3Gain-
PTCHD4-
-
-
-
3Gain-
PTCRA-
-
-
-
3Gain-
PTDSS1-
-
-
-
3Gain-
PTGDR2-
-
-
-
3Gain-
PTGER3-
-
-
-
3Gain-
PTGES3L-
-
-
-
3Gain-
PTGES3L-AARSD1-
-
-
-
3Gain-
PTGFR-
-
-
-
3Gain-
PTGFRN-
-
-
-
3Gain-
PTGIS-
-
-
-
5Amp-
PTGS1p.E404K
Missense
SNP
0.524
2--
PTGS2-
-
-
-
3Gain-
PTHLH-
-
-
-
3Gain-
PTK6-
-
-
-
5Amp-
PTK7-
-
-
-
3Gain-
PTMS-
-
-
-
3Gain-
PTN-
-
-
-
3Gain-
PTP4A1-
-
-
-
3Gain-
PTP4A2-
-
-
-
3Gain-
PTPN1-
-
-
-
5Amp-
PTPN11-
-
-
-
3Gain-
PTPN12-
-
-
-
3Gain-
PTPN14-
-
-
-
3Gain-
PTPN18-
-
-
-
1Loss-
PTPN22-
-
-
-
3Gain-
PTPN4-
-
-
-
1Loss-
PTPN6-
-
-
-
3Gain-
PTPN7p.E174K
Missense
SNP
0.336
3Gain-
PTPN9-
-
-
-
3Gain-
PTPRC-
-
-
-
3Gain-
PTPRCAP-
-
-
-
3Gain-
PTPRDp.D960N
Missense
SNP
0.479
2--
PTPRF-
-
-
-
3Gain-
PTPRJp.S822F
Missense
SNP
0.377
2--
PTPRN2-
-
-
-
3Gain-
PTPRO-
-
-
-
3Gain-
PTPRS-
-
-
-
1Loss-
PTPRTp.M900I
Missense
SNP
0.589
5Amp-
PTPRU-
-
-
-
3Gain-
PTPRZ1p.S636L
Missense
SNP
0.514
3Gain-
PTRH2-
-
-
-
3Gain-
PTS-
-
-
-
1Loss-
PTTG1-
-
-
-
3Gain-
PUM1-
-
-
-
3Gain-
PURA-
-
-
-
3Gain-
PURB-
-
-
-
3Gain-
PUS10p.S147F
Missense
SNP
0.455
2--
PUS3-
-
-
-
1Loss-
PUS7-
-
-
-
3Gain-
PUSL1-
-
-
-
3Gain-
PVALB-
-
-
-
3Gain-
PVALEF-
-
-
-
3Gain-
PVRIG-
-
-
-
3Gain-
PWWP2A-
-
-
-
3Gain-
PXDNp.S153L
Missense
SNP
0.430
2--
PXMP4-
-
-
-
5Amp-
PXN-
-
-
-
3Gain-
PXT1-
-
-
-
3Gain-
PYCR1-
-
-
-
3Gain-
PYCR2-
-
-
-
3Gain-
PYGLp.R270Q
Missense
SNP
0.994
2--
PYGM-
-
-
-
3Gain-
PYGO1-
-
-
-
3Gain-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
PYROXD1-
-
-
-
3Gain-
PYY-
-
-
-
3Gain-
PZP-
-
-
-
3Gain-
QRICH2-
-
-
-
3Gain-
QSER1p.P275S
Missense
SNP
0.520
2--
QSOX1-
-
-
-
3Gain-
R3HDM4-
-
-
-
1Loss-
R3HDML-
-
-
-
5Amp-
RAB11A-
-
-
-
3Gain-
RAB13-
-
-
-
3Gain-
RAB19-
-
-
-
3Gain-
RAB1B-
-
-
-
3Gain-
RAB22A-
-
-
-
5Amp-
RAB23-
-
-
-
3Gain-
RAB24-
-
-
-
3Gain-
RAB25-
-
-
-
3Gain-
RAB27A-
-
-
-
3Gain-
RAB2A-
-
-
-
3Gain-
RAB30-
-
-
-
3Gain-
RAB35-
-
-
-
3Gain-
RAB36-
-
-
-
3Gain-
RAB37-
-
-
-
3Gain-
RAB38-
-
-
-
3Gain-
RAB39A-
-
-
-
1Loss-
RAB3B-
-
-
-
3Gain-
RAB3C-
-
-
-
3Gain-
RAB3GAP2-
-
-
-
3Gain-
RAB3IL1-
-
-
-
3Gain-
RAB40B-
-
-
-
3Gain-
RAB42-
-
-
-
3Gain-
RAB44-
-
-
-
3Gain-
RAB4A-
-
-
-
3Gain-
RAB5A-
-
-
-
1Loss-
RAB5C-
-
-
-
3Gain-
RAB5IF-
-
-
-
5Amp-
RAB6A-
-
-
-
3Gain-
RAB6C-
-
-
-
1Loss-
RAB6D-
-
-
-
1Loss-
RAB8B-
-
-
-
3Gain-
RABGAP1L-
-
-
-
3Gain-
RABGEF1-
-
-
-
3Gain-
RABGGTB-
-
-
-
3Gain-
RABIF-
-
-
-
3Gain-
RABL2A-
-
-
-
1Loss-
RABL2B-
-
-
-
3Gain-
RAC1-
-
-
-
3Gain-
RAC2-
-
-
-
3Gain-
RAC3-
-
-
-
3Gain-
RACK1-
-
-
-
3Gain-
RAD17-
-
-
-
3Gain-
RAD18-
-
-
-
1Loss-
RAD50-
-
-
-
3Gain-
RAD51-
-
-
-
3Gain-
RAD51AP1-
-
-
-
3Gain-
RAD51C-
-
-
-
3Gain-
RAD52-
-
-
-
3Gain-
RAD54B-
-
-
-
3Gain-
RAD54L-
-
-
-
3Gain-
RAD9A-
-
-
-
3Gain-
RAD9B-
-
-
-
3Gain-
RADIL-
-
-
-
3Gain-
RAE1-
-
-
-
5Amp-
RAF1-
-
-
-
1Loss-
RALA-
-
-
-
3Gain-
RALB-
-
-
-
1Loss-
RALGAPB-
-
-
-
5Amp-
RALGPS2-
-
-
-
3Gain-
RALY-
-
-
-
5Amp-
RALYL-
-
-
-
3Gain-
RAMAC-
-
-
-
3Gain-
RAMP2-
-
-
-
3Gain-
RAMP3-
-
-
-
3Gain-
RANBP1-
-
-
-
3Gain-
RANBP17-
-
-
-
3Gain-
RANBP2-
-
-
-
1Loss-
RANBP9-
-
-
-
3Gain-
RANGAP1-
-
-
-
3Gain-
RAP1A-
-
-
-
3Gain-
RAP1GAP-
-
-
-
3Gain-
RAPGEF5p.G528E
Missense
SNP
0.423
3Gain-
RAPGEF6-
-
-
-
3Gain-
RAPGEFL1-
-
-
-
3Gain-
RARA-
-
-
-
3Gain-
RARB-
-
-
-
1Loss-
RARRES2-
-
-
-
3Gain-
RARRES3-
-
-
-
3Gain-
RARS-
-
-
-
3Gain-
RARS2-
-
-
-
3Gain-
RASA1-
-
-
-
3Gain-
RASA4-
-
-
-
3Gain-
RASA4B-
-
-
-
3Gain-
RASAL1-
-
-
-
3Gain-
RASAL2-
-
-
-
3Gain-
RASD2-
-
-
-
3Gain-
RASGEF1C-
-
-
-
3Gain-
RASGRF1-
-
-
-
3Gain-
RASGRF2p.D288N
p.E934K
Missense
Missense
SNP
SNP
0.629
0.704
3Gain-
RASGRP1-
-
-
-
3Gain-
RASGRP2-
-
-
-
3Gain-
RASL10A-
-
-
-
3Gain-
RASL12-
-
-
-
3Gain-
RASSF5-
-
-
-
3Gain-
RASSF8-
-
-
-
3Gain-
RAVER2-
-
-
-
3Gain-
RAX2p.G137S
Missense
SNP
0.963
1Loss-
RB1p.Q395*
Nonsense
SNP
1.000
2--
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBBP4-
-
-
-
3Gain-
RBBP5-
-
-
-
3Gain-
RBBP8NL-
-
-
-
5Amp-
RBFOX1p.G346E
Missense
SNP
0.435
2--
RBFOX2-
-
-
-
3Gain-
RBFOX3-
-
-
-
3Gain-
RBL1-
-
-
-
5Amp-
RBM12-
-
-
-
5Amp-
RBM12B-
-
-
-
3Gain-
RBM14-
-
-
-
3Gain-
RBM14-RBM4-
-
-
-
3Gain-
RBM15-
-
-
-
3Gain-
RBM19-
-
-
-
3Gain-
RBM22-
-
-
-
3Gain-
RBM24-
-
-
-
3Gain-
RBM27-
-
-
-
3Gain-
RBM28-
-
-
-
3Gain-
RBM33-
-
-
-
3Gain-
RBM34-
-
-
-
3Gain-
RBM38-
-
-
-
5Amp-
RBM39-
-
-
-
5Amp-
RBM4-
-
-
-
3Gain-
RBM48-
-
-
-
3Gain-
RBM4B-
-
-
-
3Gain-
RBM7-
-
-
-
1Loss-
RBM8A-
-
-
-
3Gain-
RBMS3-
-
-
-
1Loss-
RBMXL1-
-
-
-
3Gain-
RBMXL2p.G71D
Missense
SNP
0.429
2--
RBP5-
-
-
-
3Gain-
RBP7-
-
-
-
3Gain-
RBPJL-
-
-
-
5Amp-
RBPMS2-
-
-
-
3Gain-
RBSN-
-
-
-
1Loss-
RBX1-
-
-
-
3Gain-
RC3H1-
-
-
-
3Gain-
RCAN2-
-
-
-
3Gain-
RCAN3-
-
-
-
3Gain-
RCC1-
-
-
-
3Gain-
RCC1L-
-
-
-
3Gain-
RCC2-
-
-
-
3Gain-
RCCD1-
-
-
-
3Gain-
RCE1-
-
-
-
3Gain-
RCN2-
-
-
-
3Gain-
RCOR1-
-
-
-
1Loss-
RCOR2-
-
-
-
3Gain-
RCOR3-
-
-
-
3Gain-
RCSD1-
-
-
-
3Gain-
RD3-
-
-
-
3Gain-
RD3L-
-
-
-
1Loss-
RDH10-
-
-
-
3Gain-
RDX-
-
-
-
1Loss-
REC114-
-
-
-
3Gain-
RECQL-
-
-
-
3Gain-
RECQL5-
-
-
-
3Gain-
REEP2-
-
-
-
3Gain-
REEP5-
-
-
-
3Gain-
REEP6-
-
-
-
1Loss-
REG1A-
-
-
-
3Gain-
REG1B-
-
-
-
3Gain-
REG3A-
-
-
-
3Gain-
REG3G-
-
-
-
3Gain-
REG4-
-
-
-
3Gain-
RELA-
-
-
-
3Gain-
RELL2-
-
-
-
3Gain-
RELN-
-
-
-
3Gain-
RELT-
-
-
-
3Gain-
REM1-
-
-
-
5Amp-
REN-
-
-
-
3Gain-
REP15-
-
-
-
3Gain-
REPIN1-
-
-
-
3Gain-
RER1-
-
-
-
3Gain-
RERE-
-
-
-
3Gain-
RERG-
-
-
-
3Gain-
RERGL-
-
-
-
3Gain-
RETp.L895S
Missense
SNP
0.744
2--
RETREG3-
-
-
-
3Gain-
REV1-
-
-
-
1Loss-
REXO1-
-
-
-
1Loss-
REXO2-
-
-
-
1Loss-
RFC2-
-
-
-
3Gain-
RFC5-
-
-
-
3Gain-
RFESD-
-
-
-
3Gain-
RFNG-
-
-
-
3Gain-
RFPL1-
-
-
-
3Gain-
RFPL2-
-
-
-
3Gain-
RFPL3-
-
-
-
3Gain-
RFTN1-
-
-
-
1Loss-
RFX4-
-
-
-
1Loss-
RFX5-
-
-
-
3Gain-
RFX7-
-
-
-
3Gain-
RFX8-
-
-
-
1Loss-
RGL1-
-
-
-
3Gain-
RGL2-
-
-
-
3Gain-
RGL4-
-
-
-
3Gain-
RGMA-
-
-
-
3Gain-
RGMB-
-
-
-
3Gain-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGPD3-
-
-
-
1Loss-
RGPD4-
-
-
-
1Loss-
RGPD5-
-
-
-
1Loss-
RGPD6-
-
-
-
1Loss-
RGPD8-
-
-
-
1Loss-
RGS1-
-
-
-
3Gain-
RGS13-
-
-
-
3Gain-
RGS14-
-
-
-
3Gain-
RGS16-
-
-
-
3Gain-
RGS18-
-
-
-
3Gain-
RGS19-
-
-
-
5Amp-
RGS2-
-
-
-
3Gain-
RGS21-
-
-
-
3Gain-
RGS22-
-
-
-
3Gain-
RGS3p.S997F
Missense
SNP
0.547
2--
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS6p.E18K
Missense
SNP
1.000
2--
RGS7-
-
-
-
3Gain-
RGS7BP-
-
-
-
3Gain-
RGS8-
-
-
-
3Gain-
RGS9-
-
-
-
3Gain-
RGSL1p.E474K
Missense
SNP
0.381
3Gain-
RHAG-
-
-
-
3Gain-
RHBDD2-
-
-
-
3Gain-
RHBDD3-
-
-
-
3Gain-
RHBDF2-
-
-
-
3Gain-
RHBDL2-
-
-
-
3Gain-
RHBG-
-
-
-
3Gain-
RHCE-
-
-
-
3Gain-
RHCG-
-
-
-
3Gain-
RHD-
-
-
-
3Gain-
RHEB-
-
-
-
3Gain-
RHEX-
-
-
-
3Gain-
RHNO1-
-
-
-
3Gain-
RHOBTB3-
-
-
-
3Gain-
RHOC-
-
-
-
3Gain-
RHOD-
-
-
-
3Gain-
RHOF-
-
-
-
3Gain-
RHOT2p.S481L
Missense
SNP
0.581
2--
RHOUp.M243I
Missense
SNP
0.289
3Gain-
RHOV-
-
-
-
3Gain-
RIBC2-
-
-
-
3Gain-
RIC8B-
-
-
-
1Loss-
RIDAp.P105S
Missense
SNP
0.178
3Gain-
RIIAD1-
-
-
-
3Gain-
RIMKLA-
-
-
-
3Gain-
RIMKLB-
-
-
-
3Gain-
RIMS1p.R1291Q
Missense
SNP
0.605
3Gain-
RIMS2-
-
-
-
3Gain-
RIMS3-
-
-
-
3Gain-
RIMS4-
-
-
-
5Amp-
RIN1-
-
-
-
3Gain-
RIN2p.S715L
Missense
SNP
0.299
2--
RING1-
-
-
-
3Gain-
RINT1-
-
-
-
3Gain-
RIOK2-
-
-
-
3Gain-
RIPK2-
-
-
-
3Gain-
RIPOR2-
-
-
-
3Gain-
RIPOR3-
-
-
-
5Amp-
RIPPLY2-
-
-
-
3Gain-
RIPPLY3p.S163F
Missense
SNP
0.544
2--
RIT1-
-
-
-
3Gain-
RITA1-
-
-
-
3Gain-
RLBP1-
-
-
-
3Gain-
RLFp.P113S
Missense
SNP
0.573
3Gain-
RMDN1-
-
-
-
3Gain-
RMDN3-
-
-
-
3Gain-
RMND5B-
-
-
-
3Gain-
RNA5-8SN2-
-
-
-
NDNDLMAN1--RNA5-8SN2
RNASEH2C-
-
-
-
3Gain-
RNASEL-
-
-
-
3Gain-
RND2-
-
-
-
3Gain-
RNF10-
-
-
-
3Gain-
RNF11-
-
-
-
3Gain-
RNF111-
-
-
-
3Gain-
RNF114-
-
-
-
5Amp-
RNF115-
-
-
-
3Gain-
RNF121-
-
-
-
3Gain-
RNF126-
-
-
-
1Loss-
RNF130-
-
-
-
3Gain-
RNF133-
-
-
-
3Gain-
RNF14-
-
-
-
3Gain-
RNF144B-
-
-
-
3Gain-
RNF145-
-
-
-
3Gain-
RNF148-
-
-
-
3Gain-
RNF149-
-
-
-
1Loss-
RNF152p.E86K
Missense
SNP
1.000
2--
RNF157-
-
-
-
3Gain-
RNF169-
-
-
-
3Gain-
RNF17p.W1229*
Nonsense
SNP
0.993
2--
RNF180-
-
-
-
3Gain-
RNF182-
-
-
-
3Gain-
RNF185-
-
-
-
3Gain-
RNF186-
-
-
-
3Gain-
RNF187-
-
-
-
3Gain-
RNF19A-
-
-
-
3Gain-
RNF19B-
-
-
-
3Gain-
RNF2-
-
-
-
3Gain-
RNF207-
-
-
-
3Gain-
RNF212B-
-
-
-
1Loss-
RNF213-
-
-
-
3Gain-
RNF214-
-
-
-
1Loss-
RNF215-
-
-
-
3Gain-
RNF216p.P868L
Missense
SNP
0.518
3Gain-
RNF220-
-
-
-
3Gain-
RNF223-
-
-
-
3Gain-
RNF225-
-
-
-
1Loss-
RNF26-
-
-
-
1Loss-
RNF32-
-
-
-
3Gain-
RNF34-
-
-
-
3Gain-
RNF43-
-
-
-
3Gain-
RNF44-
-
-
-
3Gain-
RNF5-
-
-
-
3Gain-
RNF8-
-
-
-
3Gain-
RNFT1-
-
-
-
3Gain-
RNFT2-
-
-
-
3Gain-
RNGTTp.S275F
Missense
SNP
0.319
3Gain-
RNPC3-
-
-
-
3Gain-
RNPEP-
-
-
-
3Gain-
ROBO3-
-
-
-
1Loss-
ROBO4-
-
-
-
1Loss-
ROM1-
-
-
-
3Gain-
ROMO1-
-
-
-
5Amp-
ROR1p.S677F
Missense
SNP
0.498
3Gain-
ROR2p.E453K
Missense
SNP
0.633
2--
RORA-
-
-
-
3Gain-
RORC-
-
-
-
3Gain-
RP1p.S779F
p.D1430N
Missense
Missense
SNP
SNP
0.580
0.685
2--
RP9-
-
-
-
3Gain-
RPA2-
-
-
-
3Gain-
RPA3-
-
-
-
3Gain-
RPAP1-
-
-
-
3Gain-
RPAP2-
-
-
-
3Gain-
RPE65-
-
-
-
3Gain-
RPF1-
-
-
-
3Gain-
RPH3A-
-
-
-
3Gain-
RPIA-
-
-
-
1Loss-
RPL10A-
-
-
-
3Gain-
RPL11-
-
-
-
3Gain-
RPL15-
-
-
-
1Loss-
RPL19-
-
-
-
3Gain-
RPL22-
-
-
-
3Gain-
RPL23-
-
-
-
3Gain-
RPL26L1-
-
-
-
3Gain-
RPL27-
-
-
-
3Gain-
RPL3-
-
-
-
3Gain-
RPL30-
-
-
-
3Gain-
RPL31-
-
-
-
1Loss-
RPL32-
-
-
-
1Loss-
RPL38-
-
-
-
3Gain-
RPL4-
-
-
-
3Gain-
RPL5-
-
-
-
3Gain-
RPL6-
-
-
-
3Gain-
RPL7-
-
-
-
3Gain-
RPL7L1-
-
-
-
3Gain-
RPL8-
-
-
-
3Gain-
RPLP0-
-
-
-
3Gain-
RPLP1-
-
-
-
3Gain-
RPN2-
-
-
-
5Amp-
RPP25-
-
-
-
3Gain-
RPRD1B-
-
-
-
5Amp-
RPRD2-
-
-
-
3Gain-
RPRML-
-
-
-
3Gain-
RPS10-
-
-
-
3Gain-
RPS10-NUDT3-
-
-
-
3Gain-
RPS14-
-
-
-
3Gain-
RPS15-
-
-
-
1Loss-
RPS17-
-
-
-
3Gain-
RPS18-
-
-
-
3Gain-
RPS19BP1-
-
-
-
3Gain-
RPS20-
-
-
-
3Gain-
RPS21-
-
-
-
5Amp-
RPS23-
-
-
-
3Gain-
RPS25-
-
-
-
1Loss-
RPS27-
-
-
-
3Gain-
RPS27L-
-
-
-
3Gain-
RPS3-
-
-
-
3Gain-
RPS5-
-
-
-
1Loss-
RPS6KA1-
-
-
-
3Gain-
RPS6KA4-
-
-
-
3Gain-
RPS6KB1-
-
-
-
3Gain-
RPS6KB2-
-
-
-
3Gain-
RPS6KC1-
-
-
-
3Gain-
RPS8-
-
-
-
3Gain-
RPTNp.H72Y
Missense
SNP
0.576
3Gain-
RPTOR-
-
-
-
3Gain-
RPUSD2-
-
-
-
3Gain-
RPUSD3-
-
-
-
1Loss-
RPUSD4-
-
-
-
1Loss-
RRAGC-
-
-
-
3Gain-
RRAGD-
-
-
-
3Gain-
RRBP1-
-
-
-
2-RRBP1--C22orf39
RRBP1--HIRA
RREB1p.P160L
Missense
SNP
0.665
2--
RRM2B-
-
-
-
3Gain-
RRNAD1-
-
-
-
3Gain-
RRP15-
-
-
-
3Gain-
RRP36-
-
-
-
3Gain-
RRP7A-
-
-
-
3Gain-
RRS1-
-
-
-
3Gain-
RSAD1-
-
-
-
3Gain-
RSBN1-
-
-
-
3Gain-
RSBN1L-
-
-
-
3Gain-
RSC1A1-
-
-
-
3Gain-
RSF1-
-
-
-
3Gain-
RSL24D1-
-
-
-
3Gain-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPH14-
-
-
-
3Gain-
RSPH9-
-
-
-
3Gain-
RSPO1-
-
-
-
3Gain-
RSPO2-
-
-
-
3Gain-
RSRC2-
-
-
-
3Gain-
RSRP1-
-
-
-
3Gain-
RTCA-
-
-
-
3Gain-
RTCB-
-
-
-
3Gain-
RTEL1-
-
-
-
5Amp-
RTEL1-TNFRSF6B-
-
-
-
5Amp-
RTF1-
-
-
-
3Gain-
RTF2-
-
-
-
5Amp-
RTL1-
-
-
-
1Loss-
RTL10-
-
-
-
3Gain-
RTL6-
-
-
-
3Gain-
RTN3-
-
-
-
3Gain-
RTN4R-
-
-
-
3Gain-
RTN4RL2-
-
-
-
3Gain-
RUFY1-
-
-
-
3Gain-
RUNDC1-
-
-
-
3Gain-
RUNDC3A-
-
-
-
3Gain-
RUNDC3B-
-
-
-
3Gain-
RUNX1T1-
-
-
-
3Gain-
RUNX2-
-
-
-
3Gain-
RUNX3-
-
-
-
3Gain-
RUSC1-
-
-
-
3Gain-
RWDD2A-
-
-
-
3Gain-
RWDD3-
-
-
-
3Gain-
RXFP4-
-
-
-
3Gain-
RXRB-
-
-
-
3Gain-
RXRG-
-
-
-
3Gain-
RYR2-
-
-
-
3Gain-
RYR3p.A966V
Missense
SNP
0.277
3Gain-
S100A1-
-
-
-
3Gain-
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100A12-
-
-
-
3Gain-
S100A13-
-
-
-
3Gain-
S100A14-
-
-
-
3Gain-
S100A16-
-
-
-
3Gain-
S100A2-
-
-
-
3Gain-
S100A3-
-
-
-
3Gain-
S100A4-
-
-
-
3Gain-
S100A5-
-
-
-
3Gain-
S100A6-
-
-
-
3Gain-
S100A7-
-
-
-
3Gain-
S100A7A-
-
-
-
3Gain-
S100A7L2-
-
-
-
3Gain-
S100A8-
-
-
-
3Gain-
S100A9-
-
-
-
3Gain-
S100PBP-
-
-
-
3Gain-
S100Z-
-
-
-
3Gain-
S1PR1-
-
-
-
3Gain-
S1PR4-
-
-
-
1Loss-
SAC3D1-
-
-
-
3Gain-
SAGE1p.R451Q
Missense
SNP
0.405
NDND-
SALL4-
-
-
-
5Amp-
SAMD10-
-
-
-
5Amp-
SAMD11-
-
-
-
3Gain-
SAMD13-
-
-
-
3Gain-
SAMD14-
-
-
-
3Gain-
SAMD9-
-
-
-
3Gain-
SAMD9Lp.Q324*
Nonsense
SNP
0.478
3Gain-
SAMHD1-
-
-
-
5Amp-
SAMM50-
-
-
-
3Gain-
SAP130-
-
-
-
1Loss-
SAP25-
-
-
-
3Gain-
SAP30BP-
-
-
-
3Gain-
SAP30L-
-
-
-
3Gain-
SAR1B-
-
-
-
3Gain-
SARS-
-
-
-
3Gain-
SART1-
-
-
-
3Gain-
SASS6-
-
-
-
3Gain-
SATB1-
-
-
-
1Loss-
SATL1p.R354Q
Missense
SNP
0.726
NDND-
SAXO2-
-
-
-
3Gain-
SAYSD1-
-
-
-
3Gain-
SBDS-
-
-
-
3Gain-
SBF1-
-
-
-
3Gain-
SBNO1-
-
-
-
3Gain-
SBNO2-
-
-
-
1Loss-
SBSPON-
-
-
-
3Gain-
SC5Dp.F254S
Missense
SNP
1.000
1Loss-
SCAMP1-
-
-
-
3Gain-
SCAMP2-
-
-
-
3Gain-
SCAMP3-
-
-
-
3Gain-
SCAMP4-
-
-
-
1Loss-
SCAMP5-
-
-
-
3Gain-
SCAND1-
-
-
-
5Amp-
SCAPER-
-
-
-
3Gain-
SCARF2-
-
-
-
3Gain-
SCCPDH-
-
-
-
3Gain-
SCG3-
-
-
-
3Gain-
SCG5-
-
-
-
3Gain-
SCGB1A1p.E82K
Missense
SNP
0.339
3Gain-
SCGB1D1-
-
-
-
3Gain-
SCGB1D2-
-
-
-
3Gain-
SCGB1D4-
-
-
-
3Gain-
SCGB2A1-
-
-
-
3Gain-
SCGB2A2-
-
-
-
3Gain-
SCGB3A1-
-
-
-
3Gain-
SCGB3A2-
-
-
-
3Gain-
SCGN-
-
-
-
3Gain-
SCIN-
-
-
-
3Gain-
SCMH1-
-
-
-
3Gain-
SCN10Ap.S892F
Missense
SNP
0.477
2--
SCN2B-
-
-
-
1Loss-
SCN3Ap.S1579F
Missense
SNP
0.496
2--
SCN3B-
-
-
-
1Loss-
SCN4A-
-
-
-
3Gain-
SCN4B-
-
-
-
1Loss-
SCN5Ap.R1629Q
Missense
SNP
0.556
2--
SCN7Ap.Q1429*
p.S445F
Nonsense
Missense
SNP
SNP
0.494
0.305
2--
SCN9Ap.G768E
Missense
SNP
0.400
2--
SCNM1-
-
-
-
3Gain-
SCNN1A-
-
-
-
3Gain-
SCNN1Dp.G334C
Missense
SNP
0.481
3Gain-
SCO2-
-
-
-
3Gain-
SCP2-
-
-
-
3Gain-
SCPEP1-
-
-
-
3Gain-
SCRN1-
-
-
-
3Gain-
SCRN2-
-
-
-
3Gain-
SCTR-
-
-
-
1Loss-
SCUBE1-
-
-
-
3Gain-
SCUBE3-
-
-
-
3Gain-
SCYL1-
-
-
-
3Gain-
SCYL3-
-
-
-
3Gain-
SDC2-
-
-
-
3Gain-
SDC3-
-
-
-
3Gain-
SDC4-
-
-
-
5Amp-
SDCBP-
-
-
-
3Gain-
SDCCAG8-
-
-
-
3Gain-
SDE2-
-
-
-
3Gain-
SDF2L1-
-
-
-
3Gain-
SDF4-
-
-
-
3Gain-
SDHAF2-
-
-
-
3Gain-
SDHAF3-
-
-
-
3Gain-
SDHAF4-
-
-
-
3Gain-
SDHB-
-
-
-
3Gain-
SDHC-
-
-
-
3Gain-
SDHD-
-
-
-
1Loss-
SDK1-
-
-
-
3Gain-
SDK2-
-
-
-
3Gain-
SDR16C5-
-
-
-
3Gain-
SDS-
-
-
-
3Gain-
SDSL-
-
-
-
3Gain-
SEC11A-
-
-
-
3Gain-
SEC13-
-
-
-
1Loss-
SEC14L1-
-
-
-
3Gain-
SEC14L2-
-
-
-
3Gain-
SEC14L3-
-
-
-
3Gain-
SEC14L4-
-
-
-
3Gain-
SEC14L6-
-
-
-
3Gain-
SEC16B-
-
-
-
3Gain-
SEC22B-
-
-
-
3Gain-
SEC24A-
-
-
-
3Gain-
SEC61G-
-
-
-
3Gain-
SECISBP2L-
-
-
-
3Gain-
SECTM1-
-
-
-
3Gain-
SELE-
-
-
-
3Gain-
SELENBP1-
-
-
-
3Gain-
SELENOF-
-
-
-
3Gain-
SELENOH-
-
-
-
3Gain-
SELENOM-
-
-
-
3Gain-
SELENON-
-
-
-
3Gain-
SELENOO-
-
-
-
3Gain-
SELENOS-
-
-
-
3Gain-
SELL-
-
-
-
3Gain-
SELP-
-
-
-
3Gain-
SEM1-
-
-
-
3Gain-
SEMA3Ap.G13R
Missense
SNP
0.343
3Gain-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA4A-
-
-
-
3Gain-
SEMA4B-
-
-
-
3Gain-
SEMA4C-
-
-
-
1Loss-
SEMA6A-
-
-
-
3Gain-
SEMA6Bp.D368N
Missense
SNP
1.000
1Loss-
SEMA6C-
-
-
-
3Gain-
SEMA6D-
-
-
-
3Gain-
SEMA7A-
-
-
-
3Gain-
SEMG1p.H124Y
Missense
SNP
0.557
5Amp-
SEMG2-
-
-
-
5Amp-
SENP6-
-
-
-
3Gain-
SENP8-
-
-
-
3Gain-
SEPT10-
-
-
-
1Loss-
SEPT14-
-
-
-
3Gain-
SEPT3-
-
-
-
3Gain-
SEPT4-
-
-
-
3Gain-
SEPT5-
-
-
-
3Gain-
SEPT5-GP1BB-
-
-
-
3Gain-
SEPT7-
-
-
-
3Gain-
SEPT8-
-
-
-
3Gain-
SEPT9-
-
-
-
3Gain-
SERBP1-
-
-
-
3Gain-
SERF1A-
-
-
-
3Gain-
SERF1B-
-
-
-
3Gain-
SERF2-
-
-
-
3Gain-
SERHL2-
-
-
-
3Gain-
SERINC2-
-
-
-
3Gain-
SERINC3-
-
-
-
5Amp-
SERINC4-
-
-
-
3Gain-
SERINC5-
-
-
-
3Gain-
SERPINC1-
-
-
-
3Gain-
SERPIND1-
-
-
-
3Gain-
SERPINE1-
-
-
-
3Gain-
SERPING1-
-
-
-
3Gain-
SERPINH1-
-
-
-
3Gain-
SERTAD4-
-
-
-
3Gain-
SESN2-
-
-
-
3Gain-
SESN3-
-
-
-
3Gain-
SETBP1p.S606F
Missense
SNP
1.000
2--
SETD1Ap.S259F
Missense
SNP
0.452
2--
SETD1B-
-
-
-
3Gain-
SETD3-
-
-
-
1Loss-
SETD5-
-
-
-
1Loss-
SETD9-
-
-
-
3Gain-
SETDB1-
-
-
-
3Gain-
SETMAR-
-
-
-
1Loss-
SEZ6L-
-
-
-
3Gain-
SF1-
-
-
-
3Gain-
SF3A1-
-
-
-
3Gain-
SF3A2-
-
-
-
1Loss-
SF3A3-
-
-
-
3Gain-
SF3B2-
-
-
-
3Gain-
SF3B4-
-
-
-
3Gain-
SFI1-
-
-
-
3Gain-
SFN-
-
-
-
3Gain-
SFPQ-
-
-
-
3Gain-
SFRP4-
-
-
-
3Gain-
SFT2D2-
-
-
-
3Gain-
SFT2D3-
-
-
-
1Loss-
SFXN1-
-
-
-
3Gain-
SGCA-
-
-
-
3Gain-
SGCD-
-
-
-
3Gain-
SGCE-
-
-
-
3Gain-
SGIP1-
-
-
-
3Gain-
SGK2-
-
-
-
5Amp-
SGK3-
-
-
-
3Gain-
SGO1-
-
-
-
1Loss-
SGSH-
-
-
-
3Gain-
SGSM1-
-
-
-
3Gain-
SGSM3-
-
-
-
3Gain-
SGTA-
-
-
-
1Loss-
SGTB-
-
-
-
3Gain-
SH2B2-
-
-
-
3Gain-
SH2B3-
-
-
-
3Gain-
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH2D5-
-
-
-
3Gain-
SH2D7-
-
-
-
3Gain-
SH3BGRL2-
-
-
-
3Gain-
SH3BGRL3-
-
-
-
3Gain-
SH3BP1-
-
-
-
3Gain-
SH3BP5-
-
-
-
1Loss-
SH3BP5L-
-
-
-
3Gain-
SH3D21-
-
-
-
3Gain-
SH3GL1-
-
-
-
1Loss-
SH3GL3-
-
-
-
3Gain-
SH3GLB1-
-
-
-
3Gain-
SH3PXD2B-
-
-
-
3Gain-
SH3RF2-
-
-
-
3Gain-
SH3RF3-
-
-
-
1Loss-
SH3TC2-
-
-
-
3Gain-
SHANK1p.E317K
Missense
SNP
0.475
2--
SHANK2p.P990S
Missense
SNP
0.438
3Gain-
SHANK3-
-
-
-
3Gain-
SHC1-
-
-
-
3Gain-
SHC2-
-
-
-
1Loss-
SHC4-
-
-
-
3Gain-
SHCBP1L-
-
-
-
3Gain-
SHD-
-
-
-
1Loss-
SHE-
-
-
-
3Gain-
SHF-
-
-
-
3Gain-
SHH-
-
-
-
3Gain-
SHISA4-
-
-
-
3Gain-
SHISA8-
-
-
-
3Gain-
SHISAL1-
-
-
-
3Gain-
SHISAL2A-
-
-
-
3Gain-
SHISAL2B-
-
-
-
3Gain-
SHLD3-
-
-
-
3Gain-
SHROOM1-
-
-
-
3Gain-
SIAE-
-
-
-
1Loss-
SIDT2-
-
-
-
1Loss-
SIGLEC10-
-
-
-
1Loss-
SIGLEC12p.E443K
p.G253E
Missense
Missense
SNP
SNP
0.364
0.462
1Loss-
SIGLEC14-
-
-
-
1Loss-
SIGLEC5-
-
-
-
1Loss-
SIGLEC6-
-
-
-
1Loss-
SIGLEC7-
-
-
-
1Loss-
SIGLEC8-
-
-
-
1Loss-
SIGLEC9-
-
-
-
1Loss-
SIGLECL1-
-
-
-
1Loss-
SIK2-
-
-
-
1Loss-
SIK3-
-
-
-
1Loss-
SIKE1-
-
-
-
3Gain-
SIL1-
-
-
-
3Gain-
SIMC1-
-
-
-
3Gain-
SIN3A-
-
-
-
3Gain-
SINHCAF-
-
-
-
3Gain-
SIPA1-
-
-
-
3Gain-
SIPA1L2-
-
-
-
3Gain-
SIRT4-
-
-
-
3Gain-
SIRT5-
-
-
-
3Gain-
SIRT6-
-
-
-
1Loss-
SIRT7-
-
-
-
3Gain-
SIVA1-
-
-
-
1Loss-
SKA2-
-
-
-
3Gain-
SKAP1-
-
-
-
3Gain-
SKAP2-
-
-
-
3Gain-
SKI-
-
-
-
3Gain-
SKOR1-
-
-
-
3Gain-
SKP1-
-
-
-
3Gain-
SLA2-
-
-
-
5Amp-
SLAMF1-
-
-
-
3Gain-
SLAMF6p.M145I
Missense
SNP
0.336
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8-
-
-
-
3Gain-
SLAMF9-
-
-
-
3Gain-
SLC10A5-
-
-
-
3Gain-
SLC12A1-
-
-
-
3Gain-
SLC12A2-
-
-
-
3Gain-
SLC12A5-
-
-
-
5Amp-
SLC12A6-
-
-
-
3Gain-
SLC12A9-
-
-
-
3Gain-
SLC13A1-
-
-
-
3Gain-
SLC13A3-
-
-
-
5Amp-
SLC13A4-
-
-
-
3Gain-
SLC15A3-
-
-
-
3Gain-
SLC15A5-
-
-
-
3Gain-
SLC16A1-
-
-
-
3Gain-
SLC16A3-
-
-
-
3Gain-
SLC16A4-
-
-
-
3Gain-
SLC16A5-
-
-
-
3Gain-
SLC16A6-
-
-
-
3Gain-
SLC16A8-
-
-
-
3Gain-
SLC17A1-
-
-
-
3Gain-
SLC17A2p.E245K
Missense
SNP
0.682
3Gain-
SLC17A3-
-
-
-
3Gain-
SLC17A4-
-
-
-
3Gain-
SLC17A5-
-
-
-
3Gain-
SLC17A9-
-
-
-
5Amp-
SLC19A2-
-
-
-
3Gain-
SLC1A7-
-
-
-
3Gain-
SLC20A1-
-
-
-
1Loss-
SLC22A10p.S27F
Missense
SNP
0.333
3Gain-
SLC22A11-
-
-
-
3Gain-
SLC22A12-
-
-
-
3Gain-
SLC22A15-
-
-
-
3Gain-
SLC22A17-
-
-
-
1Loss-
SLC22A24-
-
-
-
3Gain-
SLC22A25-
-
-
-
3Gain-
SLC22A4-
-
-
-
3Gain-
SLC22A5-
-
-
-
3Gain-
SLC22A6-
-
-
-
3Gain-
SLC22A7-
-
-
-
3Gain-
SLC22A8-
-
-
-
3Gain-
SLC22A9p.G503R
Missense
SNP
0.238
3Gain-
SLC23A1-
-
-
-
3Gain-
SLC24A1-
-
-
-
3Gain-
SLC24A5-
-
-
-
3Gain-
SLC25A1-
-
-
-
3Gain-
SLC25A10-
-
-
-
3Gain-
SLC25A13-
-
-
-
3Gain-
SLC25A17-
-
-
-
3Gain-
SLC25A18-
-
-
-
3Gain-
SLC25A19-
-
-
-
3Gain-
SLC25A2-
-
-
-
3Gain-
SLC25A24-
-
-
-
3Gain-
SLC25A27-
-
-
-
3Gain-
SLC25A29-
-
-
-
1Loss-
SLC25A32-
-
-
-
3Gain-
SLC25A33-
-
-
-
3Gain-
SLC25A34-
-
-
-
3Gain-
SLC25A39-
-
-
-
3Gain-
SLC25A40-
-
-
-
3Gain-
SLC25A41p.E362K
Missense
SNP
0.362
2--
SLC25A44-
-
-
-
3Gain-
SLC25A45-
-
-
-
3Gain-
SLC25A46-
-
-
-
3Gain-
SLC25A47-
-
-
-
1Loss-
SLC25A48-
-
-
-
3Gain-
SLC26A11-
-
-
-
3Gain-
SLC26A2-
-
-
-
3Gain-
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC26A7-
-
-
-
3Gain-
SLC26A8-
-
-
-
3Gain-
SLC27A2-
-
-
-
3Gain-
SLC27A3-
-
-
-
3Gain-
SLC27A5-
-
-
-
1Loss-
SLC27A6-
-
-
-
3Gain-
SLC28A1-
-
-
-
3Gain-
SLC28A2-
-
-
-
3Gain-
SLC29A1-
-
-
-
3Gain-
SLC29A2-
-
-
-
3Gain-
SLC29A4-
-
-
-
3Gain-
SLC2A1-
-
-
-
3Gain-
SLC2A10-
-
-
-
5Amp-
SLC2A11-
-
-
-
3Gain-
SLC2A14-
-
-
-
3Gain-
SLC2A3-
-
-
-
3Gain-
SLC2A4RG-
-
-
-
5Amp-
SLC2A5-
-
-
-
3Gain-
SLC2A7-
-
-
-
3Gain-
SLC30A1-
-
-
-
3Gain-
SLC30A10-
-
-
-
3Gain-
SLC30A2-
-
-
-
3Gain-
SLC30A4-
-
-
-
3Gain-
SLC30A5-
-
-
-
3Gain-
SLC30A7-
-
-
-
3Gain-
SLC32A1-
-
-
-
5Amp-
SLC34A1-
-
-
-
3Gain-
SLC35A1-
-
-
-
3Gain-
SLC35A3-
-
-
-
3Gain-
SLC35A4-
-
-
-
3Gain-
SLC35B1-
-
-
-
3Gain-
SLC35B2-
-
-
-
3Gain-
SLC35B4-
-
-
-
3Gain-
SLC35C2-
-
-
-
5Amp-
SLC35D1-
-
-
-
3Gain-
SLC35E2A-
-
-
-
3Gain-
SLC35E2B-
-
-
-
3Gain-
SLC35E4-
-
-
-
3Gain-
SLC35F2-
-
-
-
1Loss-
SLC35F3-
-
-
-
3Gain-
SLC35F5-
-
-
-
1Loss-
SLC36A1-
-
-
-
3Gain-
SLC36A2-
-
-
-
3Gain-
SLC36A3-
-
-
-
3Gain-
SLC36A4-
-
-
-
3Gain-
SLC37A2-
-
-
-
1Loss-
SLC37A3-
-
-
-
3Gain-
SLC37A4-
-
-
-
1Loss-
SLC38A1p.R452K
Missense
SNP
1.000
2--
SLC38A10-
-
-
-
3Gain-
SLC38A9-
-
-
-
3Gain-
SLC39A1-
-
-
-
3Gain-
SLC39A11-
-
-
-
3Gain-
SLC39A3-
-
-
-
1Loss-
SLC39A7-
-
-
-
3Gain-
SLC3A2-
-
-
-
3Gain-
SLC41A2-
-
-
-
1Loss-
SLC43A1-
-
-
-
3Gain-
SLC43A3-
-
-
-
3Gain-
SLC44A3-
-
-
-
3Gain-
SLC44A5p.E359K
Missense
SNP
0.479
3Gain-
SLC45A1-
-
-
-
3Gain-
SLC4A1-
-
-
-
3Gain-
SLC4A10p.M915I
Missense
SNP
0.471
2--
SLC4A2-
-
-
-
3Gain-
SLC4A7-
-
-
-
1Loss-
SLC4A9-
-
-
-
3Gain-
SLC50A1-
-
-
-
3Gain-
SLC51B-
-
-
-
3Gain-
SLC5A1-
-
-
-
3Gain-
SLC5A4-
-
-
-
3Gain-
SLC5A7-
-
-
-
1Loss-
SLC5A9-
-
-
-
3Gain-
SLC6A1-
-
-
-
1Loss-
SLC6A11-
-
-
-
1Loss-
SLC6A12-
-
-
-
3Gain-
SLC6A13-
-
-
-
3Gain-
SLC6A17-
-
-
-
3Gain-
SLC6A6-
-
-
-
1Loss-
SLC6A7-
-
-
-
3Gain-
SLC6A9-
-
-
-
3Gain-
SLC7A13-
-
-
-
3Gain-
SLC7A2p.D206N
Missense
SNP
0.304
2--
SLC7A4-
-
-
-
3Gain-
SLC7A8-
-
-
-
1Loss-
SLC8A3p.E436K
Missense
SNP
0.986
2--
SLC8B1-
-
-
-
3Gain-
SLC9A1-
-
-
-
3Gain-
SLC9A2-
-
-
-
1Loss-
SLC9A3R1-
-
-
-
3Gain-
SLC9A4-
-
-
-
1Loss-
SLC9A8-
-
-
-
5Amp-
SLC9C2-
-
-
-
3Gain-
SLCO1A2-
-
-
-
3Gain-
SLCO1B1-
-
-
-
3Gain-
SLCO1B3-
-
-
-
3Gain-
SLCO1B7-
-
-
-
3Gain-
SLCO1C1-
-
-
-
3Gain-
SLCO2B1-
-
-
-
3Gain-
SLCO3A1-
-
-
-
3Gain-
SLCO4A1-
-
-
-
5Amp-
SLCO4C1-
-
-
-
3Gain-
SLCO5A1-
-
-
-
3Gain-
SLCO6A1-
-
-
-
3Gain-
SLF1-
-
-
-
3Gain-
SLFNL1-
-
-
-
3Gain-
SLIT3-
-
-
-
3Gain-
SLN-
-
-
-
1Loss-
SLPI-
-
-
-
5Amp-
SLTM-
-
-
-
3Gain-
SLU7-
-
-
-
3Gain-
SMAD3-
-
-
-
3Gain-
SMAD5-
-
-
-
3Gain-
SMAD6-
-
-
-
3Gain-
SMAD9p.P109L
Missense
SNP
0.987
2--
SMAP1-
-
-
-
3Gain-
SMAP2-
-
-
-
3Gain-
SMARCA1p.R928Q
Missense
SNP
0.459
NDND-
SMARCB1-
-
-
-
3Gain-
SMARCD2-
-
-
-
3Gain-
SMARCD3-
-
-
-
3Gain-
SMARCE1-
-
-
-
3Gain-
SMC1B-
-
-
-
3Gain-
SMCO2-
-
-
-
3Gain-
SMCO3-
-
-
-
3Gain-
SMCO4-
-
-
-
3Gain-
SMCP-
-
-
-
3Gain-
SMDT1-
-
-
-
3Gain-
SMG5-
-
-
-
3Gain-
SMG7-
-
-
-
3Gain-
SMG8-
-
-
-
3Gain-
SMG9-
-
-
-
1Loss-
SMIM1-
-
-
-
3Gain-
SMIM12-
-
-
-
3Gain-
SMIM13-
-
-
-
3Gain-
SMIM15-
-
-
-
3Gain-
SMIM23-
-
-
-
3Gain-
SMIM24-
-
-
-
1Loss-
SMIM29-
-
-
-
3Gain-
SMIM3-
-
-
-
3Gain-
SMIM30-
-
-
-
3Gain-
SMIM32-
-
-
-
3Gain-
SMIM33-
-
-
-
3Gain-
SMIM5-
-
-
-
3Gain-
SMIM6-
-
-
-
3Gain-
SMIM8-
-
-
-
3Gain-
SMKR1-
-
-
-
3Gain-
SMN1-
-
-
-
3Gain-
SMN2-
-
-
-
3Gain-
SMO-
-
-
-
3Gain-
SMPD4-
-
-
-
1Loss-
SMPDL3B-
-
-
-
3Gain-
SMTN-
-
-
-
3Gain-
SMTNL1-
-
-
-
3Gain-
SMURF1-
-
-
-
3Gain-
SMURF2-
-
-
-
3Gain-
SMYD1-
-
-
-
1Loss-
SMYD2-
-
-
-
3Gain-
SMYD3-
-
-
-
3Gain-
SNAI1-
-
-
-
5Amp-
SNAP23-
-
-
-
3Gain-
SNAP29-
-
-
-
3Gain-
SNAP47-
-
-
-
3Gain-
SNAP91-
-
-
-
3Gain-
SNAPC5-
-
-
-
3Gain-
SNAPIN-
-
-
-
3Gain-
SNCAIPp.E87K
p.G641E
Missense
Missense
SNP
SNP
0.349
0.698
3Gain-
SNCB-
-
-
-
3Gain-
SND1-
-
-
-
3Gain-
SNF8-
-
-
-
3Gain-
SNHG28-
-
-
-
3Gain-
SNIP1-
-
-
-
3Gain-
SNRNP200-
-
-
-
1Loss-
SNRNP40-
-
-
-
3Gain-
SNRPA1-
-
-
-
3Gain-
SNRPC-
-
-
-
3Gain-
SNRPD3-
-
-
-
3Gain-
SNRPE-
-
-
-
3Gain-
SNRPN-
-
-
-
3Gain-
SNTA1-
-
-
-
5Amp-
SNTG2p.E237K
Missense
SNP
0.353
2--
SNU13-
-
-
-
3Gain-
SNUPN-
-
-
-
3Gain-
SNURF-
-
-
-
3Gain-
SNX1-
-
-
-
3Gain-
SNX10-
-
-
-
3Gain-
SNX11-
-
-
-
3Gain-
SNX13-
-
-
-
3Gain-
SNX14-
-
-
-
3Gain-
SNX15-
-
-
-
3Gain-
SNX16-
-
-
-
3Gain-
SNX18-
-
-
-
3Gain-
SNX19-
-
-
-
1Loss-
SNX2-
-
-
-
3Gain-
SNX21-
-
-
-
5Amp-
SNX22-
-
-
-
3Gain-
SNX24-
-
-
-
3Gain-
SNX27-
-
-
-
3Gain-
SNX31-
-
-
-
3Gain-
SNX32-
-
-
-
3Gain-
SNX33-
-
-
-
3Gain-
SNX7-
-
-
-
3Gain-
SNX8-
-
-
-
3Gain-
SOAT1-
-
-
-
3Gain-
SOCS3-
-
-
-
3Gain-
SOCS7-
-
-
-
3Gain-
SOGA1-
-
-
-
5Amp-
SORCS3p.S547F
p.E993K
Missense
Missense
SNP
SNP
0.512
0.507
2--
SORD-
-
-
-
3Gain-
SORL1-
-
-
-
1Loss-
SORT1-
-
-
-
3Gain-
SOST-
-
-
-
3Gain-
SOSTDC1-
-
-
-
3Gain-
SOWAHA-
-
-
-
3Gain-
SOWAHC-
-
-
-
1Loss-
SOX10-
-
-
-
3Gain-
SOX13-
-
-
-
3Gain-
SOX18-
-
-
-
5Amp-
SOX30-
-
-
-
3Gain-
SOX4-
-
-
-
3Gain-
SOX5-
-
-
-
3Gain-
SOX9-
-
-
-
3Gain-
SP140p.D838N
Missense
SNP
0.432
2--
SP2-
-
-
-
3Gain-
SP4-
-
-
-
3Gain-
SP6-
-
-
-
3Gain-
SP8-
-
-
-
3Gain-
SPA17-
-
-
-
1Loss-
SPACA1-
-
-
-
3Gain-
SPACA6-
-
-
-
1Loss-
SPAG1-
-
-
-
3Gain-
SPAG17-
-
-
-
3Gain-
SPAG4-
-
-
-
5Amp-
SPAG9-
-
-
-
3Gain-
SPAM1-
-
-
-
3Gain-
SPANXN2p.G172E
Missense
SNP
0.353
NDND-
SPANXN4p.S6F
Missense
SNP
0.579
NDND-
SPARC-
-
-
-
3Gain-
SPATA1-
-
-
-
3Gain-
SPATA17-
-
-
-
3Gain-
SPATA19-
-
-
-
1Loss-
SPATA2-
-
-
-
5Amp-
SPATA20-
-
-
-
3Gain-
SPATA21-
-
-
-
3Gain-
SPATA22p.E235K
Missense
SNP
1.000
2--
SPATA24-
-
-
-
3Gain-
SPATA25-
-
-
-
5Amp-
SPATA32-
-
-
-
3Gain-
SPATA45-
-
-
-
3Gain-
SPATA46-
-
-
-
3Gain-
SPATA48-
-
-
-
3Gain-
SPATA5L1-
-
-
-
3Gain-
SPATA6-
-
-
-
3Gain-
SPATA8p.E18K
Missense
SNP
0.757
3Gain-
SPATA9-
-
-
-
3Gain-
SPATS1-
-
-
-
3Gain-
SPCS2-
-
-
-
3Gain-
SPDEF-
-
-
-
3Gain-
SPDL1-
-
-
-
3Gain-
SPDYC-
-
-
-
3Gain-
SPDYE3-
-
-
-
3Gain-
SPDYE4p.W81*
Nonsense
SNP
1.000
2--
SPECC1L-
-
-
-
3Gain-
SPECC1L-ADORA2A-
-
-
-
3Gain-
SPEF2p.M520I
p.E1521K
Missense
Missense
SNP
SNP
0.538
0.455
2--
SPEN-
-
-
-
3Gain-
SPESP1-
-
-
-
3Gain-
SPG11-
-
-
-
3Gain-
SPG21-
-
-
-
3Gain-
SPHAR-
-
-
-
3Gain-
SPHK1-
-
-
-
3Gain-
SPICp.G80E
Missense
SNP
1.000
3Gain-
SPINDOC-
-
-
-
3Gain-
SPINK1-
-
-
-
3Gain-
SPINK13-
-
-
-
3Gain-
SPINK14-
-
-
-
3Gain-
SPINK5-
-
-
-
3Gain-
SPINK6-
-
-
-
3Gain-
SPINK7-
-
-
-
3Gain-
SPINK9-
-
-
-
3Gain-
SPINT1-
-
-
-
3Gain-
SPINT3-
-
-
-
5Amp-
SPINT4-
-
-
-
5Amp-
SPO11-
-
-
-
5Amp-
SPOCD1-
-
-
-
3Gain-
SPOCK1-
-
-
-
3Gain-
SPOP-
-
-
-
3Gain-
SPP2p.S3F
Missense
SNP
0.644
2--
SPPL2A-
-
-
-
3Gain-
SPPL2B-
-
-
-
1Loss-
SPPL2C-
-
-
-
3Gain-
SPPL3-
-
-
-
3Gain-
SPRED1-
-
-
-
3Gain-
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRTN-
-
-
-
3Gain-
SPRY4-
-
-
-
3Gain-
SPSB1-
-
-
-
3Gain-
SPSB2-
-
-
-
3Gain-
SPTA1p.G1497R
Missense
SNP
0.648
3Gain-
SPTBN2-
-
-
-
3Gain-
SPTBN5-
-
-
-
3Gain-
SPX-
-
-
-
3Gain-
SPZ1p.S316L
Missense
SNP
0.626
3Gain-
SQOR-
-
-
-
3Gain-
SQSTM1-
-
-
-
3Gain-
SRA1-
-
-
-
3Gain-
SRARP-
-
-
-
3Gain-
SRC-
-
-
-
5Amp-
SRCIN1-
-
-
-
3Gain-
SREBF2-
-
-
-
3Gain-
SREK1-
-
-
-
3Gain-
SREK1IP1-
-
-
-
3Gain-
SRF-
-
-
-
3Gain-
SRFBP1-
-
-
-
3Gain-
SRGAP2-
-
-
-
3Gain-
SRGAP2B-
-
-
-
3Gain-
SRGAP2C-
-
-
-
3Gain-
SRGAP3-
-
-
-
1Loss-
SRI-
-
-
-
3Gain-
SRM-
-
-
-
3Gain-
SRMS-
-
-
-
5Amp-
SRP14-
-
-
-
3Gain-
SRP19-
-
-
-
3Gain-
SRP68-
-
-
-
3Gain-
SRP9-
-
-
-
3Gain-
SRPK1-
-
-
-
3Gain-
SRPK2-
-
-
-
3Gain-
SRPRA-
-
-
-
1Loss-
SRRD-
-
-
-
3Gain-
SRRM1-
-
-
-
3Gain-
SRRM3-
-
-
-
3Gain-
SRRM4-
-
-
-
3Gain-
SRRM5-
-
-
-
1Loss-
SRRT-
-
-
-
3Gain-
SRSF1-
-
-
-
3Gain-
SRSF10-
-
-
-
3Gain-
SRSF11-
-
-
-
3Gain-
SRSF12-
-
-
-
3Gain-
SRSF2-
-
-
-
3Gain-
SRSF3-
-
-
-
3Gain-
SRSF4-
-
-
-
3Gain-
SRSF6-
-
-
-
5Amp-
SRSF8-
-
-
-
3Gain-
SRSF9-
-
-
-
3Gain-
SS18L1-
-
-
-
5Amp-
SSBP1-
-
-
-
3Gain-
SSBP2-
-
-
-
3Gain-
SSBP3-
-
-
-
3Gain-
SSC4D-
-
-
-
3Gain-
SSH1-
-
-
-
4Gain-
SSH3-
-
-
-
3Gain-
SSMEM1-
-
-
-
3Gain-
SSPN-
-
-
-
3Gain-
SSPO-
-
-
-
3Gain-
SSR2-
-
-
-
3Gain-
SSRP1-
-
-
-
3Gain-
SSSCA1-
-
-
-
3Gain-
SSTR2-
-
-
-
3Gain-
SSTR3-
-
-
-
3Gain-
SSU72-
-
-
-
3Gain-
SSU72P8-
-
-
-
3Gain-
SSUH2-
-
-
-
1Loss-
SSX2IP-
-
-
-
3Gain-
ST13-
-
-
-
3Gain-
ST14-
-
-
-
1Loss-
ST18p.E810K
p.D449N
Missense
Missense
SNP
SNP
0.586
0.655
2--
ST20-
-
-
-
3Gain-
ST20-MTHFS-
-
-
-
3Gain-
ST3GAL3-
-
-
-
3Gain-
ST3GAL4-
-
-
-
1Loss-
ST6GAL2-
-
-
-
1Loss-
ST6GALNAC1-
-
-
-
3Gain-
ST6GALNAC2-
-
-
-
3Gain-
ST6GALNAC3-
-
-
-
3Gain-
ST6GALNAC5-
-
-
-
3Gain-
ST7-
-
-
-
3Gain-
ST7L-
-
-
-
3Gain-
ST8SIA1-
-
-
-
3Gain-
ST8SIA2-
-
-
-
3Gain-
ST8SIA4-
-
-
-
3Gain-
STAB2-
-
-
-
3Gain-
STAC2-
-
-
-
3Gain-
STAG2p.H698Y
Missense
SNP
0.483
NDND-
STAG3-
-
-
-
3Gain-
STAP2-
-
-
-
1Loss-
STARD10-
-
-
-
3Gain-
STARD3-
-
-
-
3Gain-
STARD3NL-
-
-
-
3Gain-
STARD4-
-
-
-
3Gain-
STARD5-
-
-
-
3Gain-
STARD7-
-
-
-
1Loss-
STARD9-
-
-
-
3Gain-
STAT3-
-
-
-
3Gain-
STAT5A-
-
-
-
3Gain-
STAT5B-
-
-
-
3Gain-
STAU1-
-
-
-
5Amp-
STAU2-
-
-
-
3Gain-
STC2-
-
-
-
3Gain-
STEAP1-
-
-
-
3Gain-
STEAP1B-
-
-
-
3Gain-
STEAP2-
-
-
-
3Gain-
STEAP3-
-
-
-
1Loss-
STEAP4-
-
-
-
3Gain-
STH-
-
-
-
3Gain-
STIL-
-
-
-
3Gain-
STIP1-
-
-
-
3Gain-
STK10-
-
-
-
3Gain-
STK11-
-
-
-
1Loss-
STK17A-
-
-
-
3Gain-
STK3-
-
-
-
3Gain-
STK31p.G410R
Missense
SNP
0.498
3Gain-
STK32A-
-
-
-
3Gain-
STK38-
-
-
-
3Gain-
STK38L-
-
-
-
3Gain-
STK4-
-
-
-
5Amp-
STK40-
-
-
-
3Gain-
STMN1-
-
-
-
3Gain-
STMN2-
-
-
-
3Gain-
STMN3-
-
-
-
5Amp-
STMND1-
-
-
-
3Gain-
STMP1-
-
-
-
3Gain-
STOML1-
-
-
-
3Gain-
STPG1-
-
-
-
3Gain-
STRA6-
-
-
-
3Gain-
STRA8-
-
-
-
3Gain-
STRADA-
-
-
-
3Gain-
STRAP-
-
-
-
3Gain-
STRC-
-
-
-
3Gain-
STRIP1-
-
-
-
3Gain-
STRIP2-
-
-
-
3Gain-
STT3A-
-
-
-
1Loss-
STT3B-
-
-
-
1Loss-
STUM-
-
-
-
3Gain-
STX12-
-
-
-
3Gain-
STX16-
-
-
-
5Amp-
STX16-NPEPL1-
-
-
-
5Amp-
STX1A-
-
-
-
3Gain-
STX3-
-
-
-
3Gain-
STX5-
-
-
-
3Gain-
STX6-
-
-
-
3Gain-
STXBP3-
-
-
-
3Gain-
STXBP4-
-
-
-
3Gain-
STXBP5Lp.R815C
Missense
SNP
0.654
2--
STYK1-
-
-
-
3Gain-
STYXL1-
-
-
-
3Gain-
SUCO-
-
-
-
3Gain-
SUDS3-
-
-
-
1Loss-
SUGCT-
-
-
-
3Gain-
SULF1-
-
-
-
3Gain-
SULF2-
-
-
-
5Amp-
SULT1C2-
-
-
-
1Loss-
SULT1C3-
-
-
-
1Loss-
SULT1C4-
-
-
-
1Loss-
SULT2B1p.R295C
Missense
SNP
0.423
2--
SULT4A1-
-
-
-
3Gain-
SUMF1-
-
-
-
1Loss-
SUMF2-
-
-
-
3Gain-
SUMO2-
-
-
-
3Gain-
SUN1-
-
-
-
3Gain-
SUN2-
-
-
-
3Gain-
SUN3-
-
-
-
3Gain-
SUN5-
-
-
-
5Amp-
SUPT3H-
-
-
-
3Gain-
SUPT4H1-
-
-
-
3Gain-
SUSD2-
-
-
-
3Gain-
SUSD4p.S115F
Missense
SNP
0.681
3Gain-
SUSD5-
-
-
-
1Loss-
SV2A-
-
-
-
3Gain-
SV2B-
-
-
-
3Gain-
SV2C-
-
-
-
3Gain-
SVBP-
-
-
-
3Gain-
SVEP1p.H407Y
Missense
SNP
0.446
2--
SVOP-
-
-
-
4Gain-
SVOPL-
-
-
-
3Gain-
SWT1-
-
-
-
3Gain-
SYBU-
-
-
-
3Gain-
SYCE1p.E184K
Missense
SNP
0.495
2--
SYCE3-
-
-
-
3Gain-
SYCP1-
-
-
-
3Gain-
SYCP2-
-
-
-
5Amp-
SYCP2L-
-
-
-
3Gain-
SYCP3-
-
-
-
3Gain-
SYDE2-
-
-
-
3Gain-
SYF2-
-
-
-
3Gain-
SYN2-
-
-
-
1Loss-
SYN3p.G219S
Missense
SNP
0.996
3Gain-
SYNC-
-
-
-
3Gain-
SYNCRIP-
-
-
-
3Gain-
SYNGAP1-
-
-
-
3Gain-
SYNGR1-
-
-
-
3Gain-
SYNGR2-
-
-
-
3Gain-
SYNGR4p.E30K
Missense
SNP
0.461
2--
SYNM-
-
-
-
3Gain-
SYNPO-
-
-
-
3Gain-
SYNRG-
-
-
-
3Gain-
SYPL1-
-
-
-
3Gain-
SYPL2-
-
-
-
3Gain-
SYS1-
-
-
-
5Amp-
SYS1-DBNDD2-
-
-
-
5Amp-
SYT10-
-
-
-
3Gain-
SYT11-
-
-
-
3Gain-
SYT12-
-
-
-
3Gain-
SYT14p.P159S
Missense
SNP
0.299
3Gain-
SYT2-
-
-
-
3Gain-
SYT6-
-
-
-
3Gain-
SYT7-
-
-
-
3Gain-
SYTL1-
-
-
-
3Gain-
SYTL2-
-
-
-
3Gain-
SYVN1-
-
-
-
3Gain-
SZRD1-
-
-
-
3Gain-
SZT2p.P2080L
Missense
SNP
0.457
3Gain-
TAB1-
-
-
-
3Gain-
TAC1-
-
-
-
3Gain-
TAC4-
-
-
-
3Gain-
TACO1-
-
-
-
3Gain-
TACR3p.G102E
Missense
SNP
1.000
2--
TACSTD2-
-
-
-
3Gain-
TADA1-
-
-
-
3Gain-
TADA2A-
-
-
-
3Gain-
TADA3-
-
-
-
1Loss-
TAF11-
-
-
-
3Gain-
TAF12p.R49H
Missense
SNP
0.558
3Gain-
TAF13-
-
-
-
3Gain-
TAF1A-
-
-
-
3Gain-
TAF1D-
-
-
-
3Gain-
TAF4-
-
-
-
5Amp-
TAF5L-
-
-
-
3Gain-
TAF6-
-
-
-
3Gain-
TAF6L-
-
-
-
3Gain-
TAF7-
-
-
-
3Gain-
TAF8-
-
-
-
3Gain-
TAF9-
-
-
-
3Gain-
TAGLN-
-
-
-
1Loss-
TAGLN2-
-
-
-
3Gain-
TAL1-
-
-
-
3Gain-
TAMM41-
-
-
-
1Loss-
TANC2-
-
-
-
3Gain-
TANGO2-
-
-
-
3Gain-
TAOK3-
-
-
-
1Loss-
TAP1-
-
-
-
3Gain-
TAP2-
-
-
-
3Gain-
TAPBP-
-
-
-
3Gain-
TAPBPL-
-
-
-
3Gain-
TARBP1-
-
-
-
3Gain-
TARDBP-
-
-
-
3Gain-
TARS2-
-
-
-
3Gain-
TARSL2-
-
-
-
3Gain-
TAS1R1-
-
-
-
3Gain-
TAS1R2-
-
-
-
3Gain-
TAS1R3-
-
-
-
3Gain-
TAS2R10-
-
-
-
3Gain-
TAS2R13-
-
-
-
3Gain-
TAS2R14-
-
-
-
3Gain-
TAS2R16-
-
-
-
3Gain-
TAS2R19-
-
-
-
3Gain-
TAS2R20-
-
-
-
3Gain-
TAS2R3-
-
-
-
3Gain-
TAS2R30-
-
-
-
3Gain-
TAS2R31-
-
-
-
3Gain-
TAS2R38-
-
-
-
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R4-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R41-
-
-
-
3Gain-
TAS2R42-
-
-
-
3Gain-
TAS2R46-
-
-
-
3Gain-
TAS2R5-
-
-
-
3Gain-
TAS2R50-
-
-
-
3Gain-
TAS2R60-
-
-
-
3Gain-
TAS2R7p.S239F
Missense
SNP
0.656
3Gain-
TAS2R8-
-
-
-
3Gain-
TAS2R9-
-
-
-
3Gain-
TATDN2-
-
-
-
1Loss-
TATDN3-
-
-
-
3Gain-
TAX1BP1-
-
-
-
3Gain-
TBC1D10A-
-
-
-
3Gain-
TBC1D10C-
-
-
-
3Gain-
TBC1D16-
-
-
-
3Gain-
TBC1D21-
-
-
-
3Gain-
TBC1D22A-
-
-
-
3Gain-
TBC1D22B-
-
-
-
3Gain-
TBC1D2B-
-
-
-
3Gain-
TBC1D5-
-
-
-
1Loss-
TBC1D7-
-
-
-
3Gain-
TBC1D8-
-
-
-
1Loss-
TBC1D9B-
-
-
-
3Gain-
TBCA-
-
-
-
3Gain-
TBCC-
-
-
-
3Gain-
TBCD-
-
-
-
3Gain-
TBCE-
-
-
-
3Gain-
TBCEL-
-
-
-
1Loss-
TBKBP1-
-
-
-
3Gain-
TBL2-
-
-
-
3Gain-
TBRG1-
-
-
-
1Loss-
TBRG4-
-
-
-
3Gain-
TBX1-
-
-
-
3Gain-
TBX10-
-
-
-
3Gain-
TBX15-
-
-
-
3Gain-
TBX18-
-
-
-
3Gain-
TBX19-
-
-
-
3Gain-
TBX2-
-
-
-
3Gain-
TBX20p.Q426*
Nonsense
SNP
0.483
3Gain-
TBX21-
-
-
-
3Gain-
TBX3-
-
-
-
3Gain-
TBX4-
-
-
-
3Gain-
TBXA2R-
-
-
-
1Loss-
TBXAS1-
-
-
-
3Gain-
TCAF1-
-
-
-
3Gain-
TCAF2-
-
-
-
3Gain-
TCAP-
-
-
-
3Gain-
TCEA2-
-
-
-
5Amp-
TCEA3-
-
-
-
3Gain-
TCEAL2p.P204S
Missense
SNP
0.533
NDND-
TCEANC2-
-
-
-
3Gain-
TCERG1-
-
-
-
3Gain-
TCF12-
-
-
-
3Gain-
TCF20-
-
-
-
3Gain-
TCF24-
-
-
-
3Gain-
TCF3-
-
-
-
1Loss-
TCF7p.I178V
Missense
SNP
0.643
3Gain-
TCFL5-
-
-
-
5Amp-
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCIRG1-
-
-
-
3Gain-
TCN1-
-
-
-
3Gain-
TCN2-
-
-
-
3Gain-
TCOF1-
-
-
-
3Gain-
TCP11-
-
-
-
3Gain-
TCP11L2-
-
-
-
1Loss-
TCTE1-
-
-
-
3Gain-
TCTEX1D1-
-
-
-
3Gain-
TCTEX1D4-
-
-
-
3Gain-
TCTN1-
-
-
-
3Gain-
TDG-
-
-
-
3Gain-
TDP2-
-
-
-
3Gain-
TDRD10-
-
-
-
3Gain-
TDRD5-
-
-
-
3Gain-
TDRD6-
-
-
-
3Gain-
TDRD9-
-
-
-
1Loss-
TDRKH-
-
-
-
3Gain-
TEAD3-
-
-
-
3Gain-
TEAD4-
-
-
-
3Gain-
TECPR1-
-
-
-
3Gain-
TECPR2-
-
-
-
1Loss-
TECTA-
-
-
-
1Loss-
TEDDM1-
-
-
-
3Gain-
TEF-
-
-
-
3Gain-
TEKT2-
-
-
-
3Gain-
TEKT4-
-
-
-
1Loss-
TEN1-
-
-
-
3Gain-
TEN1-CDK3-
-
-
-
3Gain-
TENM1p.G2229E
p.D439N
Missense
Missense
SNP
SNP
0.486
0.484
NDND-
TENM2p.E452K
Missense
SNP
0.433
3Gain-
TENM4p.G2249D
Missense
SNP
0.306
3Gain-
TENT2-
-
-
-
3Gain-
TENT5A-
-
-
-
3Gain-
TENT5B-
-
-
-
3Gain-
TENT5C-
-
-
-
3Gain-
TEPSIN-
-
-
-
3Gain-
TERB2-
-
-
-
3Gain-
TERF1-
-
-
-
3Gain-
TES-
-
-
-
3Gain-
TESC-
-
-
-
3Gain-
TESK2-
-
-
-
3Gain-
TESMIN-
-
-
-
3Gain-
TET2p.P929S
Missense
SNP
0.995
2--
TEX101-
-
-
-
1Loss-
TEX12-
-
-
-
1Loss-
TEX13Bp.A73V
Missense
SNP
0.604
NDND-
TEX13Cp.P654S
Missense
SNP
0.465
NDND-
TEX14-
-
-
-
3Gain-
TEX15p.S1064L
Missense
SNP
0.378
2--
TEX19-
-
-
-
3Gain-
TEX2-
-
-
-
3Gain-
TEX33-
-
-
-
3Gain-
TEX35-
-
-
-
3Gain-
TEX37-
-
-
-
1Loss-
TEX38-
-
-
-
3Gain-
TEX43-
-
-
-
3Gain-
TEX46-
-
-
-
3Gain-
TEX47-
-
-
-
3Gain-
TEX50-
-
-
-
3Gain-
TEX51-
-
-
-
1Loss-
TEX52-
-
-
-
3Gain-
TEX9-
-
-
-
3Gain-
TFAP2A-
-
-
-
3Gain-
TFAP2B-
-
-
-
3Gain-
TFAP2C-
-
-
-
5Amp-
TFAP2D-
-
-
-
3Gain-
TFAP2E-
-
-
-
3Gain-
TFB2M-
-
-
-
3Gain-
TFCP2L1-
-
-
-
1Loss-
TFEB-
-
-
-
3Gain-
TFEC-
-
-
-
3Gain-
TFIP11-
-
-
-
3Gain-
TFPIp.R69K
Missense
SNP
0.346
2--
TFPI2-
-
-
-
3Gain-
TFR2-
-
-
-
3Gain-
TGFB2-
-
-
-
3Gain-
TGFBI-
-
-
-
3Gain-
TGFBR2-
-
-
-
1Loss-
TGFBR3-
-
-
-
3Gain-
TGFBRAP1-
-
-
-
1Loss-
TGIF2-
-
-
-
5Amp-
TGIF2-RAB5IF-
-
-
-
5Amp-
TGM2-
-
-
-
5Amp-
TGM5-
-
-
-
3Gain-
TGM7-
-
-
-
3Gain-
THAP10-
-
-
-
3Gain-
THAP12-
-
-
-
3Gain-
THAP3-
-
-
-
3Gain-
THAP5-
-
-
-
3Gain-
THAP7-
-
-
-
3Gain-
THBS1p.S386F
p.D407N
Missense
Missense
SNP
SNP
0.321
0.267
3Gain-
THBS3-
-
-
-
3Gain-
THBS4-
-
-
-
3Gain-
THEG-
-
-
-
1Loss-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEMISp.E275K
Missense
SNP
0.451
2--
THEMIS2-
-
-
-
3Gain-
THG1L-
-
-
-
3Gain-
THNSL2-
-
-
-
1Loss-
THOC3-
-
-
-
3Gain-
THOC5-
-
-
-
3Gain-
THOP1-
-
-
-
1Loss-
THRAp.S330L
Missense
SNP
0.627
3Gain-
THRAP3-
-
-
-
3Gain-
THRB-
-
-
-
1Loss-
THRSP-
-
-
-
3Gain-
THSD4-
-
-
-
3Gain-
THSD7A-
-
-
-
3Gain-
THSD7Bp.E157K
p.E410K
p.D1146N
p.E1180K
p.R1275Q
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
0.519
0.496
0.492
0.464
0.480
2--
THTPA-
-
-
-
1Loss-
THUMPD3-
-
-
-
1Loss-
THY1-
-
-
-
1Loss-
THYN1-
-
-
-
1Loss-
TICAM1-
-
-
-
1Loss-
TICRR-
-
-
-
3Gain-
TIE1-
-
-
-
3Gain-
TIFAB-
-
-
-
3Gain-
TIGAR-
-
-
-
3Gain-
TIGD3-
-
-
-
3Gain-
TIGD6-
-
-
-
3Gain-
TIMD4-
-
-
-
3Gain-
TIMM10-
-
-
-
3Gain-
TIMM13-
-
-
-
1Loss-
TIMM17A-
-
-
-
3Gain-
TIMM8B-
-
-
-
1Loss-
TIMP2-
-
-
-
3Gain-
TIMP3-
-
-
-
3Gain-
TIMP4-
-
-
-
1Loss-
TINAG-
-
-
-
3Gain-
TINAGL1-
-
-
-
3Gain-
TIPIN-
-
-
-
3Gain-
TIPRL-
-
-
-
3Gain-
TIRAP-
-
-
-
1Loss-
TJAP1-
-
-
-
3Gain-
TJP1-
-
-
-
3Gain-
TJP3-
-
-
-
1Loss-
TK1-
-
-
-
3Gain-
TKFC-
-
-
-
3Gain-
TLDC2-
-
-
-
5Amp-
TLE2-
-
-
-
1Loss-
TLE3-
-
-
-
3Gain-
TLE6-
-
-
-
1Loss-
TLK2-
-
-
-
3Gain-
TLN2-
-
-
-
3Gain-
TLNRD1-
-
-
-
3Gain-
TLR5-
-
-
-
3Gain-
TLX3-
-
-
-
3Gain-
TM2D1-
-
-
-
3Gain-
TM2D3-
-
-
-
3Gain-
TM6SF1-
-
-
-
3Gain-
TM7SF2-
-
-
-
3Gain-
TM7SF3-
-
-
-
3Gain-
TM9SF4-
-
-
-
5Amp-
TMC3-
-
-
-
3Gain-
TMC6-
-
-
-
3Gain-
TMC8-
-
-
-
3Gain-
TMCC2-
-
-
-
3Gain-
TMCO1-
-
-
-
3Gain-
TMCO2-
-
-
-
3Gain-
TMCO4-
-
-
-
3Gain-
TMCO5A-
-
-
-
3Gain-
TMCO6-
-
-
-
3Gain-
TMED3-
-
-
-
3Gain-
TMED4-
-
-
-
3Gain-
TMED5-
-
-
-
3Gain-
TMED7-
-
-
-
3Gain-
TMED7-TICAM2-
-
-
-
3Gain-
TMED9-
-
-
-
3Gain-
TMEM100-
-
-
-
3Gain-
TMEM101-
-
-
-
3Gain-
TMEM104-
-
-
-
3Gain-
TMEM105-
-
-
-
3Gain-
TMEM106A-
-
-
-
3Gain-
TMEM106B-
-
-
-
3Gain-
TMEM109-
-
-
-
3Gain-
TMEM116-
-
-
-
3Gain-
TMEM120A-
-
-
-
3Gain-
TMEM120B-
-
-
-
3Gain-
TMEM121B-
-
-
-
3Gain-
TMEM123-
-
-
-
1Loss-
TMEM125-
-
-
-
3Gain-
TMEM126A-
-
-
-
3Gain-
TMEM126B-
-
-
-
3Gain-
TMEM127-
-
-
-
1Loss-
TMEM130-
-
-
-
3Gain-
TMEM131-
-
-
-
1Loss-
TMEM132A-
-
-
-
3Gain-
TMEM134-
-
-
-
3Gain-
TMEM135-
-
-
-
3Gain-
TMEM136-
-
-
-
1Loss-
TMEM138-
-
-
-
3Gain-
TMEM139-
-
-
-
3Gain-
TMEM140-
-
-
-
3Gain-
TMEM14A-
-
-
-
3Gain-
TMEM14B-
-
-
-
3Gain-
TMEM14C-
-
-
-
3Gain-
TMEM151A-
-
-
-
3Gain-
TMEM151B-
-
-
-
3Gain-
TMEM156p.E288K
Missense
SNP
1.000
2--
TMEM161B-
-
-
-
3Gain-
TMEM163-
-
-
-
1Loss-
TMEM167A-
-
-
-
3Gain-
TMEM167B-
-
-
-
3Gain-
TMEM168-
-
-
-
3Gain-
TMEM17-
-
-
-
3Gain-
TMEM170B-
-
-
-
3Gain-
TMEM171-
-
-
-
3Gain-
TMEM173-
-
-
-
3Gain-
TMEM174-
-
-
-
3Gain-
TMEM176A-
-
-
-
3Gain-
TMEM176B-
-
-
-
3Gain-
TMEM177-
-
-
-
1Loss-
TMEM178B-
-
-
-
3Gain-
TMEM179-
-
-
-
1Loss-
TMEM179B-
-
-
-
3Gain-
TMEM182-
-
-
-
1Loss-
TMEM183A-
-
-
-
3Gain-
TMEM184A-
-
-
-
3Gain-
TMEM184B-
-
-
-
3Gain-
TMEM185B-
-
-
-
1Loss-
TMEM189-
-
-
-
5Amp-
TMEM189-UBE2V1-
-
-
-
5Amp-
TMEM191B-
-
-
-
3Gain-
TMEM191C-
-
-
-
3Gain-
TMEM196-
-
-
-
3Gain-
TMEM200B-
-
-
-
3Gain-
TMEM201-
-
-
-
3Gain-
TMEM202-
-
-
-
3Gain-
TMEM206-
-
-
-
3Gain-
TMEM209-
-
-
-
3Gain-
TMEM211-
-
-
-
3Gain-
TMEM213-
-
-
-
3Gain-
TMEM216-
-
-
-
3Gain-
TMEM217-
-
-
-
3Gain-
TMEM218-
-
-
-
1Loss-
TMEM222-
-
-
-
3Gain-
TMEM223-
-
-
-
3Gain-
TMEM225-
-
-
-
1Loss-
TMEM225B-
-
-
-
3Gain-
TMEM229A-
-
-
-
3Gain-
TMEM232-
-
-
-
3Gain-
TMEM233-
-
-
-
3Gain-
TMEM234-
-
-
-
3Gain-
TMEM235-
-
-
-
3Gain-
TMEM240-
-
-
-
3Gain-
TMEM243-
-
-
-
3Gain-
TMEM248-
-
-
-
3Gain-
TMEM25-
-
-
-
1Loss-
TMEM258-
-
-
-
3Gain-
TMEM259-
-
-
-
1Loss-
TMEM262-
-
-
-
3Gain-
TMEM263-
-
-
-
1Loss-
TMEM266-
-
-
-
3Gain-
TMEM269-
-
-
-
3Gain-
TMEM270-
-
-
-
3Gain-
TMEM30A-
-
-
-
3Gain-
TMEM35B-
-
-
-
3Gain-
TMEM37-
-
-
-
1Loss-
TMEM39B-
-
-
-
3Gain-
TMEM40-
-
-
-
1Loss-
TMEM43-
-
-
-
1Loss-
TMEM45B-
-
-
-
1Loss-
TMEM50A-
-
-
-
3Gain-
TMEM51-
-
-
-
3Gain-
TMEM52-
-
-
-
3Gain-
TMEM52B-
-
-
-
3Gain-
TMEM53-
-
-
-
3Gain-
TMEM54-
-
-
-
3Gain-
TMEM56-
-
-
-
3Gain-
TMEM56-RWDD3-
-
-
-
3Gain-
TMEM59-
-
-
-
3Gain-
TMEM60-
-
-
-
3Gain-
TMEM61-
-
-
-
3Gain-
TMEM62-
-
-
-
3Gain-
TMEM63A-
-
-
-
3Gain-
TMEM63B-
-
-
-
3Gain-
TMEM64-
-
-
-
3Gain-
TMEM67-
-
-
-
3Gain-
TMEM69-
-
-
-
3Gain-
TMEM70-
-
-
-
3Gain-
TMEM74-
-
-
-
3Gain-
TMEM79-
-
-
-
3Gain-
TMEM81-
-
-
-
3Gain-
TMEM82-
-
-
-
3Gain-
TMEM87A-
-
-
-
3Gain-
TMEM87B-
-
-
-
1Loss-
TMEM88B-
-
-
-
3Gain-
TMEM9-
-
-
-
3Gain-
TMEM92-
-
-
-
3Gain-
TMEM94-
-
-
-
3Gain-
TMEM99-
-
-
-
3Gain-
TMIGD2-
-
-
-
1Loss-
TMIGD3-
-
-
-
3Gain-
TMOD2p.R108C
Missense
SNP
0.312
3Gain-
TMOD3-
-
-
-
3Gain-
TMOD4-
-
-
-
3Gain-
TMPPE-
-
-
-
1Loss-
TMPRSS13-
-
-
-
1Loss-
TMPRSS3p.D5N
Missense
SNP
0.333
2--
TMPRSS4-
-
-
-
1Loss-
TMPRSS5-
-
-
-
1Loss-
TMPRSS6-
-
-
-
3Gain-
TMPRSS9-
-
-
-
1Loss-
TMTC1-
-
-
-
3Gain-
TMUB1-
-
-
-
3Gain-
TMUB2-
-
-
-
3Gain-
TMX2-
-
-
-
3Gain-
TMX2-CTNND1-
-
-
-
3Gain-
TNFAIP2-
-
-
-
1Loss-
TNFAIP8-
-
-
-
3Gain-
TNFAIP8L1-
-
-
-
1Loss-
TNFAIP8L2-
-
-
-
3Gain-
TNFAIP8L3-
-
-
-
3Gain-
TNFRSF13C-
-
-
-
3Gain-
TNFRSF14-
-
-
-
3Gain-
TNFRSF18-
-
-
-
3Gain-
TNFRSF1Ap.P337L
Missense
SNP
0.905
3Gain-
TNFRSF1B-
-
-
-
3Gain-
TNFRSF21-
-
-
-
3Gain-
TNFRSF25-
-
-
-
3Gain-
TNFRSF4-
-
-
-
3Gain-
TNFRSF6B-
-
-
-
5Amp-
TNFRSF8-
-
-
-
3Gain-
TNFRSF9-
-
-
-
3Gain-
TNFSF18p.S199F
Missense
SNP
0.446
3Gain-
TNFSF4-
-
-
-
3Gain-
TNIP1-
-
-
-
3GainGXYLT2--TNIP1
TNKS1BP1-
-
-
-
3Gain-
TNN-
-
-
-
3Gain-
TNNC2-
-
-
-
5Amp-
TNNI1-
-
-
-
3Gain-
TNNI3K-
-
-
-
3Gain-
TNNT1p.R179W
Missense
SNP
0.427
2--
TNNT2-
-
-
-
3Gain-
TNPO1-
-
-
-
3Gain-
TNPO3-
-
-
-
3Gain-
TNR-
-
-
-
3Gain-
TNRC18-
-
-
-
3Gain-
TNRC6B-
-
-
-
3Gain-
TNRC6C-
-
-
-
3Gain-
TNS3-
-
-
-
3Gain-
TNS4-
-
-
-
3Gain-
TNXBp.P1697S
Missense
SNP
0.326
3Gain-
TOB1-
-
-
-
3Gain-
TOB2-
-
-
-
3Gain-
TOE1-
-
-
-
3Gain-
TOM1-
-
-
-
3Gain-
TOM1L1-
-
-
-
3Gain-
TOMM20-
-
-
-
3Gain-
TOMM22-
-
-
-
3Gain-
TOMM34-
-
-
-
5Amp-
TOMM40L-
-
-
-
3Gain-
TOMM6-
-
-
-
3Gain-
TOMM7-
-
-
-
3Gain-
TOP1-
-
-
-
5Amp-
TOP2A-
-
-
-
3Gain-
TOP2B-
-
-
-
1Loss-
TOP3B-
-
-
-
3Gain-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR3A-
-
-
-
3Gain-
TOX-
-
-
-
3Gain-
TOX2-
-
-
-
5Amp-
TP53p.P27S
Missense
SNP
1.000
2--
TP53AIP1-
-
-
-
1Loss-
TP53BP1-
-
-
-
3Gain-
TP53BP2-
-
-
-
3Gain-
TP53INP1-
-
-
-
3Gain-
TP53INP2-
-
-
-
5Amp-
TP53RK-
-
-
-
5Amp-
TP53TG5-
-
-
-
5Amp-
TP73-
-
-
-
3Gain-
TPBG-
-
-
-
3Gain-
TPBGL-
-
-
-
3Gain-
TPCN1-
-
-
-
3Gain-
TPCN2-
-
-
-
3Gain-
TPD52-
-
-
-
3Gain-
TPD52L2-
-
-
-
5Amp-
TPGS1-
-
-
-
1Loss-
TPI1-
-
-
-
3Gain-
TPK1-
-
-
-
3Gain-
TPM1-
-
-
-
3Gain-
TPM3-
-
-
-
3Gain-
TPMT-
-
-
-
3Gain-
TPOp.E830K
Missense
SNP
0.507
2--
TPR-
-
-
-
3Gain-
TPRG1L-
-
-
-
3Gain-
TPST1-
-
-
-
3Gain-
TPST2-
-
-
-
3Gain-
TPTE-
-
-
-
1Loss-
TPTEP2-CSNK1E-
-
-
-
3Gain-
TPX2-
-
-
-
5Amp-
TRA2Ap.R244C
Missense
SNP
0.559
3Gain-
TRABD-
-
-
-
3Gain-
TRABD2B-
-
-
-
3Gain-
TRAF3-
-
-
-
1Loss-
TRAF3IP3-
-
-
-
3Gain-
TRAF5-
-
-
-
3Gain-
TRAFD1-
-
-
-
3Gain-
TRAM1-
-
-
-
3Gain-
TRAM2-
-
-
-
3Gain-
TRANK1p.T1229A
Missense
SNP
0.497
2--
TRAPPC13-
-
-
-
3Gain-
TRAPPC2B-
-
-
-
1Loss-
TRAPPC3-
-
-
-
3Gain-
TRAPPC4-
-
-
-
1Loss-
TREH-
-
-
-
1Loss-
TREM1-
-
-
-
3Gain-
TREM2-
-
-
-
3Gain-
TREML1-
-
-
-
3Gain-
TREML2-
-
-
-
3Gain-
TREML4-
-
-
-
3Gain-
TRERF1-
-
-
-
3Gain-
TRHR-
-
-
-
3Gain-
TRIAP1-
-
-
-
3Gain-
TRIL-
-
-
-
3Gain-
TRIM11-
-
-
-
3Gain-
TRIM17-
-
-
-
3Gain-
TRIM23-
-
-
-
3Gain-
TRIM24-
-
-
-
3Gain-
TRIM25-
-
-
-
3Gain-
TRIM28-
-
-
-
1Loss-
TRIM29-
-
-
-
1Loss-
TRIM33-
-
-
-
3Gain-
TRIM36-
-
-
-
3Gain-
TRIM37-
-
-
-
3Gain-
TRIM4-
-
-
-
3Gain-
TRIM41-
-
-
-
3Gain-
TRIM43-
-
-
-
1Loss-
TRIM43B-
-
-
-
1Loss-
TRIM45-
-
-
-
3Gain-
TRIM46-
-
-
-
3Gain-
TRIM47-
-
-
-
3Gain-
TRIM49-
-
-
-
3Gain-
TRIM49C-
-
-
-
3Gain-
TRIM49D1-
-
-
-
3Gain-
TRIM49D2-
-
-
-
3Gain-
TRIM50-
-
-
-
3Gain-
TRIM51-
-
-
-
3Gain-
TRIM52-
-
-
-
3Gain-
TRIM55-
-
-
-
3Gain-
TRIM56-
-
-
-
3Gain-
TRIM58p.E391K
Missense
SNP
0.343
3Gain-
TRIM62-
-
-
-
3Gain-
TRIM63-
-
-
-
3Gain-
TRIM64B-
-
-
-
3Gain-
TRIM65-
-
-
-
3Gain-
TRIM67-
-
-
-
3Gain-
TRIM69-
-
-
-
3Gain-
TRIM7-
-
-
-
3Gain-
TRIM71-
-
-
-
1Loss-
TRIM73-
-
-
-
3Gain-
TRIM74-
-
-
-
3Gain-
TRIM77-
-
-
-
3Gain-
TRIOBP-
-
-
-
3Gain-
TRIP4-
-
-
-
3Gain-
TRIP6-
-
-
-
3Gain-
TRIQK-
-
-
-
3Gain-
TRIT1-
-
-
-
3Gain-
TRMT112-
-
-
-
3Gain-
TRMT13-
-
-
-
3Gain-
TRMT1L-
-
-
-
3Gain-
TRMT2A-
-
-
-
3Gain-
TRMT61A-
-
-
-
1Loss-
TRMU-
-
-
-
3Gain-
TRNAU1AP-
-
-
-
3Gain-
TRNP1-
-
-
-
3Gain-
TRNT1-
-
-
-
1Loss-
TROVE2-
-
-
-
3Gain-
TRPA1-
-
-
-
3Gain-
TRPC4APp.S660F
Missense
SNP
0.375
5Amp-
TRPC6-
-
-
-
1Loss-
TRPC7-
-
-
-
3Gain-
TRPM1-
-
-
-
3Gain-
TRPM2p.P1350S
Missense
SNP
0.375
2--
TRPM7-
-
-
-
3Gain-
TRPT1-
-
-
-
3Gain-
TRPV5-
-
-
-
3Gain-
TRPV6-
-
-
-
3Gain-
TRRAP-
-
-
-
3Gain-
TSACC-
-
-
-
3Gain-
TSC22D4-
-
-
-
3Gain-
TSEN15-
-
-
-
3Gain-
TSEN2-
-
-
-
1Loss-
TSEN54-
-
-
-
3Gain-
TSGA10-
-
-
-
1Loss-
TSGA10IP-
-
-
-
3Gain-
TSGA13-
-
-
-
3Gain-
TSHB-
-
-
-
3Gain-
TSHZ1p.T628M
Missense
SNP
0.559
2--
TSHZ2-
-
-
-
5Amp-
TSKU-
-
-
-
3Gain-
TSLP-
-
-
-
3Gain-
TSN-
-
-
-
1Loss-
TSNAX-
-
-
-
3Gain-
TSNAX-DISC1-
-
-
-
3Gain-
TSPAN1-
-
-
-
3Gain-
TSPAN10-
-
-
-
3Gain-
TSPAN11-
-
-
-
3Gain-
TSPAN12-
-
-
-
3Gain-
TSPAN13-
-
-
-
3Gain-
TSPAN17-
-
-
-
3Gain-
TSPAN2-
-
-
-
3Gain-
TSPAN3-
-
-
-
3Gain-
TSPAN33-
-
-
-
3Gain-
TSPAN9-
-
-
-
3Gain-
TSPO-
-
-
-
3Gain-
TSPO2-
-
-
-
3Gain-
TSPOAP1-
-
-
-
3Gain-
TSPYL5-
-
-
-
3Gain-
TSPYL6p.G125E
Missense
SNP
0.454
2--
TSSK1B-
-
-
-
3Gain-
TSSK2-
-
-
-
3Gain-
TSSK3-
-
-
-
3Gain-
TST-
-
-
-
3Gain-
TSTD1-
-
-
-
3Gain-
TTBK1-
-
-
-
3Gain-
TTBK2-
-
-
-
3Gain-
TTC1-
-
-
-
3Gain-
TTC12-
-
-
-
1Loss-
TTC13-
-
-
-
3Gain-
TTC22-
-
-
-
3Gain-
TTC23-
-
-
-
3Gain-
TTC24-
-
-
-
3Gain-
TTC25-
-
-
-
3Gain-
TTC26-
-
-
-
3Gain-
TTC28-
-
-
-
3Gain-
TTC34-
-
-
-
3Gain-
TTC36-
-
-
-
1Loss-
TTC37-
-
-
-
3Gain-
TTC38-
-
-
-
3Gain-
TTC39A-
-
-
-
3Gain-
TTC4-
-
-
-
3Gain-
TTC41P-
-
-
-
NDNDCRY1--TTC41P
TTC9C-
-
-
-
3Gain-
TTF2-
-
-
-
3Gain-
TTI1-
-
-
-
5Amp-
TTKp.S618F
Missense
SNP
0.607
3Gain-
TTL-
-
-
-
1Loss-
TTLL1-
-
-
-
3Gain-
TTLL10-
-
-
-
3Gain-
TTLL12-
-
-
-
3Gain-
TTLL13P-
-
-
-
3Gain-
TTLL3-
-
-
-
1Loss-
TTLL6-
-
-
-
3Gain-
TTLL7-
-
-
-
3Gain-
TTLL8-
-
-
-
3Gain-
TTLL9-
-
-
-
5Amp-
TTNp.D23559N
p.E18439K
p.G2600E
p.G1608E
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.439
0.515
0.446
0.444
2--
TTPA-
-
-
-
3Gain-
TTPAL-
-
-
-
5Amp-
TTYH2-
-
-
-
3Gain-
TTYH3-
-
-
-
3Gain-
TUBp.G31E
Missense
SNP
0.488
2--
TUBA3D-
-
-
-
1Loss-
TUBA3E-
-
-
-
1Loss-
TUBA8-
-
-
-
3Gain-
TUBB1-
-
-
-
5Amp-
TUBD1-
-
-
-
3Gain-
TUBG1-
-
-
-
3Gain-
TUBG2-
-
-
-
3Gain-
TUBGCP4-
-
-
-
3Gain-
TUBGCP5-
-
-
-
3Gain-
TUBGCP6-
-
-
-
3Gain-
TUFT1-
-
-
-
3Gain-
TULP1-
-
-
-
3Gain-
TULP3-
-
-
-
3Gain-
TUT1-
-
-
-
3Gain-
TUT4-
-
-
-
3Gain-
TWIST1-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TXLNA-
-
-
-
3Gain-
TXN2-
-
-
-
3Gain-
TXNDC12-
-
-
-
3Gain-
TXNDC15-
-
-
-
3Gain-
TXNDC9-
-
-
-
1Loss-
TXNIP-
-
-
-
3Gain-
TXNRD1-
-
-
-
3Gain-
TXNRD2-
-
-
-
3Gain-
TYMP-
-
-
-
3Gain-
TYR-
-
-
-
3Gain-
TYRO3-
-
-
-
3Gain-
TYW1-
-
-
-
3Gain-
TYW1B-
-
-
-
3Gain-
TYW3-
-
-
-
3Gain-
U2SURPp.R495C
Missense
SNP
0.545
2--
UACA-
-
-
-
3Gain-
UAP1-
-
-
-
3Gain-
UBALD2-
-
-
-
3Gain-
UBAP1L-
-
-
-
3Gain-
UBAP2L-
-
-
-
3Gain-
UBASH3B-
-
-
-
1Loss-
UBE2B-
-
-
-
3Gain-
UBE2C-
-
-
-
5Amp-
UBE2D2-
-
-
-
3Gain-
UBE2D4-
-
-
-
3Gain-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2H-
-
-
-
3Gain-
UBE2J1-
-
-
-
3Gain-
UBE2J2-
-
-
-
3Gain-
UBE2L3-
-
-
-
3Gain-
UBE2L6-
-
-
-
3Gain-
UBE2M-
-
-
-
1Loss-
UBE2O-
-
-
-
3Gain-
UBE2Q1-
-
-
-
3Gain-
UBE2Q2-
-
-
-
3Gain-
UBE2Q2L-
-
-
-
3Gain-
UBE2T-
-
-
-
3Gain-
UBE2U-
-
-
-
3Gain-
UBE2V1-
-
-
-
5Amp-
UBE2W-
-
-
-
3Gain-
UBE2Z-
-
-
-
3Gain-
UBE3A-
-
-
-
3Gain-
UBE3C-
-
-
-
3Gain-
UBE3D-
-
-
-
3Gain-
UBE4A-
-
-
-
1Loss-
UBE4Bp.H713Y
Missense
SNP
0.576
3Gain-
UBIAD1-
-
-
-
3Gain-
UBL4B-
-
-
-
3Gain-
UBL7-
-
-
-
3Gain-
UBLCP1-
-
-
-
3Gain-
UBN2-
-
-
-
3Gain-
UBP1-
-
-
-
1Loss-
UBQLN4-
-
-
-
3Gain-
UBQLNLp.S112F
Missense
SNP
0.426
2--
UBR1-
-
-
-
3Gain-
UBR2-
-
-
-
3Gain-
UBR4-
-
-
-
3Gain-
UBR5-
-
-
-
3Gain-
UBTD2-
-
-
-
3Gain-
UBTF-
-
-
-
3Gain-
UBTFL1-
-
-
-
3Gain-
UBXN1-
-
-
-
3Gain-
UBXN10-
-
-
-
3Gain-
UBXN11-
-
-
-
3Gain-
UBXN2B-
-
-
-
3Gain-
UBXN6-
-
-
-
1Loss-
UCHL5-
-
-
-
3Gain-
UCK2-
-
-
-
3Gain-
UCKL1-
-
-
-
5Amp-
UCP2-
-
-
-
3Gain-
UCP3-
-
-
-
3Gain-
UFC1-
-
-
-
3Gain-
UFD1-
-
-
-
3Gain-
UFSP1-
-
-
-
3Gain-
UGGT1-
-
-
-
1Loss-
UGT2A1p.G512E
Missense
SNP
1.000
2--
UGT2B4p.M214I
Missense
SNP
1.000
2--
UGT3A1p.G326E
Missense
SNP
0.487
2--
UHMK1-
-
-
-
3Gain-
UHRF1-
-
-
-
1Loss-
UHRF1BP1-
-
-
-
3Gain-
UIMC1-
-
-
-
3Gain-
ULBP3p.R205T
Missense
SNP
0.430
2--
ULK3-
-
-
-
3Gain-
UMAD1-
-
-
-
3Gain-
UNC119B-
-
-
-
3Gain-
UNC13Ap.E557K
Missense
SNP
0.624
2--
UNC13Cp.R182Q
Missense
SNP
0.643
3Gain-
UNC13D-
-
-
-
3Gain-
UNC45A-
-
-
-
3Gain-
UNC50-
-
-
-
1Loss-
UNC5A-
-
-
-
3Gain-
UNC5CL-
-
-
-
3Gain-
UNC93B1-
-
-
-
3Gain-
UNCX-
-
-
-
3Gain-
UNG-
-
-
-
4Gain-
UNK-
-
-
-
3Gain-
UPB1-
-
-
-
3Gain-
UPK2-
-
-
-
1Loss-
UPK3A-
-
-
-
3Gain-
UPK3B-
-
-
-
3Gain-
UPK3BL1-
-
-
-
3Gain-
UPP1-
-
-
-
3Gain-
UQCC1-
-
-
-
5Amp-
UQCC2-
-
-
-
3Gain-
UQCC3-
-
-
-
3Gain-
UQCR10-
-
-
-
3Gain-
UQCR11-
-
-
-
1Loss-
UQCRB-
-
-
-
3Gain-
UQCRH-
-
-
-
3Gain-
UQCRHL-
-
-
-
3Gain-
UQCRQ-
-
-
-
3Gain-
URB2-
-
-
-
3Gain-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
UROD-
-
-
-
3Gain-
USF1-
-
-
-
3Gain-
USH1Gp.E159K
Missense
SNP
0.662
3Gain-
USH2Ap.S4619L
Missense
SNP
0.310
3Gain-
USP1-
-
-
-
3Gain-
USP18-
-
-
-
3Gain-
USP2-
-
-
-
1Loss-
USP21-
-
-
-
3Gain-
USP24-
-
-
-
3Gain-
USP28-
-
-
-
1Loss-
USP3-
-
-
-
3Gain-
USP30-
-
-
-
4Gain-
USP32-
-
-
-
3Gain-
USP33-
-
-
-
3Gain-
USP34p.S2254L
Missense
SNP
0.762
2--
USP35-
-
-
-
3Gain-
USP36-
-
-
-
3Gain-
USP41-
-
-
-
3Gain-
USP42-
-
-
-
3Gain-
USP48-
-
-
-
3Gain-
USP49-
-
-
-
3Gain-
USP5-
-
-
-
3Gain-
USP50-
-
-
-
3Gain-
USP8-
-
-
-
3Gain-
UTP11-
-
-
-
3Gain-
UTP15-
-
-
-
3Gain-
UTP18-
-
-
-
3Gain-
UTP25-
-
-
-
3Gain-
UTS2-
-
-
-
3Gain-
UTS2R-
-
-
-
3Gain-
UVRAG-
-
-
-
3Gain-
UXS1-
-
-
-
1Loss-
VAMP1-
-
-
-
3Gain-
VAMP3-
-
-
-
3Gain-
VAMP4-
-
-
-
3Gain-
VANGL1-
-
-
-
3Gain-
VANGL2-
-
-
-
3Gain-
VAPB-
-
-
-
5Amp-
VASH2-
-
-
-
3Gain-
VAT1-
-
-
-
3Gain-
VAV3-
-
-
-
3Gain-
VCAM1-
-
-
-
3Gain-
VCANp.P657S
Missense
SNP
0.345
3Gain-
VCPIP1-
-
-
-
3Gain-
VDAC1-
-
-
-
3Gain-
VEGFA-
-
-
-
3Gain-
VEGFBp.P151S
Missense
SNP
0.259
3Gain-
VEZF1-
-
-
-
3Gain-
VGF-
-
-
-
3Gain-
VGLL4-
-
-
-
1Loss-
VHL-
-
-
-
1Loss-
VHLL-
-
-
-
3Gain-
VIPR2-
-
-
-
3Gain-
VIRMA-
-
-
-
3Gain-
VKORC1L1-
-
-
-
3Gain-
VMP1-
-
-
-
3Gain-
VN1R1-
-
-
-
1Loss-
VN1R2p.D342N
Missense
SNP
0.502
1Loss-
VN1R4-
-
-
-
1Loss-
VNN1p.D340N
Missense
SNP
0.440
2--
VOPP1-
-
-
-
3Gain-
VPREB1-
-
-
-
3Gain-
VPREB3-
-
-
-
3Gain-
VPS11-
-
-
-
1Loss-
VPS13Ap.S1891L
Missense
SNP
0.492
2--
VPS13B-
-
-
-
3Gain-
VPS13Cp.E3139K
Missense
SNP
0.673
3Gain-
VPS13D-
-
-
-
3Gain-
VPS18-
-
-
-
3Gain-
VPS25-
-
-
-
3Gain-
VPS26B-
-
-
-
1Loss-
VPS29-
-
-
-
3Gain-
VPS33A-
-
-
-
3Gain-
VPS33B-
-
-
-
3Gain-
VPS37B-
-
-
-
3Gain-
VPS37C-
-
-
-
3Gain-
VPS37D-
-
-
-
3Gain-
VPS39-
-
-
-
3Gain-
VPS41-
-
-
-
3Gain-
VPS45-
-
-
-
3Gain-
VPS50-
-
-
-
3Gain-
VPS51-
-
-
-
3Gain-
VPS52-
-
-
-
3Gain-
VPS72-
-
-
-
3Gain-
VSIG10-
-
-
-
3Gain-
VSIG10L-
-
-
-
1Loss-
VSIG10L2-
-
-
-
1Loss-
VSIG2-
-
-
-
1Loss-
VSIG8-
-
-
-
3Gain-
VSTM2Ap.R191Q
Missense
SNP
0.469
3Gain-
VSTM2L-
-
-
-
5Amp-
VSTM4p.G88R
Missense
SNP
0.486
2--
VSTM5-
-
-
-
3Gain-
VTCN1-
-
-
-
3Gain-
VWA1-
-
-
-
3Gain-
VWA3B-
-
-
-
1Loss-
VWA5A-
-
-
-
1Loss-
VWA5B1-
-
-
-
3Gain-
VWC2-
-
-
-
3Gain-
VWCE-
-
-
-
3Gain-
VWDE-
-
-
-
3Gain-
VWF-
-
-
-
3Gain-
VXN-
-
-
-
3Gain-
WARS-
-
-
-
1Loss-
WARS2-
-
-
-
3Gain-
WASF2-
-
-
-
3Gain-
WASHC3-
-
-
-
3Gain-
WASHC4-
-
-
-
1Loss-
WASL-
-
-
-
3Gain-
WBP11-
-
-
-
3Gain-
WBP2-
-
-
-
3Gain-
WBP2NL-
-
-
-
3Gain-
WBSCR17p.E507K
Missense
SNP
0.683
NDND-
WDPCP-
-
-
-
3Gain-
WDR18-
-
-
-
1Loss-
WDR20-
-
-
-
1Loss-
WDR25-
-
-
-
1Loss-
WDR26-
-
-
-
3Gain-
WDR3-
-
-
-
3Gain-
WDR33-
-
-
-
1Loss-
WDR36-
-
-
-
3Gain-
WDR41-
-
-
-
3Gain-
WDR45B-
-
-
-
3Gain-
WDR46-
-
-
-
3Gain-
WDR47-
-
-
-
3Gain-
WDR55-
-
-
-
3Gain-
WDR60p.R130Q
Missense
SNP
0.505
3Gain-
WDR61-
-
-
-
3Gain-
WDR63-
-
-
-
3Gain-
WDR64-
-
-
-
3Gain-
WDR66-
-
-
-
3Gain-
WDR72-
-
-
-
3Gain-
WDR73-
-
-
-
3Gain-
WDR74-
-
-
-
3Gain-
WDR76-
-
-
-
3Gain-
WDR77-
-
-
-
3Gain-
WDR78-
-
-
-
3Gain-
WDR86-
-
-
-
3Gain-
WDR91-
-
-
-
3Gain-
WDR93-
-
-
-
3Gain-
WDTC1-
-
-
-
3Gain-
WEE2-
-
-
-
3Gain-
WFDC10A-
-
-
-
5Amp-
WFDC10B-
-
-
-
5Amp-
WFDC11-
-
-
-
5Amp-
WFDC12-
-
-
-
5Amp-
WFDC13-
-
-
-
5Amp-
WFDC2-
-
-
-
5Amp-
WFDC3-
-
-
-
5Amp-
WFDC5-
-
-
-
5Amp-
WFDC6-
-
-
-
5Amp-
WFDC8-
-
-
-
5Amp-
WFDC9-
-
-
-
5Amp-
WFIKKN2-
-
-
-
3Gain-
WHAMM-
-
-
-
3Gain-
WIPF2-
-
-
-
3Gain-
WIPF3-
-
-
-
3Gain-
WIPI1-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WISP2p.S182F
Missense
SNP
0.597
5Amp-
WLS-
-
-
-
3Gain-
WNK1-
-
-
-
3Gain-
WNK4-
-
-
-
3Gain-
WNT1p.S65N
Missense
SNP
0.995
2--
WNT11-
-
-
-
3Gain-
WNT16-
-
-
-
3Gain-
WNT2-
-
-
-
3Gain-
WNT2B-
-
-
-
3Gain-
WNT3-
-
-
-
3Gain-
WNT3A-
-
-
-
3Gain-
WNT4-
-
-
-
3Gain-
WNT5B-
-
-
-
3Gain-
WNT7A-
-
-
-
1Loss-
WNT7B-
-
-
-
3Gain-
WNT8A-
-
-
-
3Gain-
WNT9A-
-
-
-
3Gain-
WNT9B-
-
-
-
3Gain-
WRAP73-
-
-
-
3Gain-
WSB2-
-
-
-
3Gain-
WWC1-
-
-
-
3Gain-
WWP1-
-
-
-
3Gain-
XBP1-
-
-
-
3Gain-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XDHp.G1036E
Missense
SNP
0.433
2--
XIRP1p.G1456E
Missense
SNP
0.559
2--
XIRP2p.E2674K
Missense
SNP
0.486
2--
XKR3-
-
-
-
3Gain-
XKR7-
-
-
-
5Amp-
XKR8-
-
-
-
3Gain-
XKR9-
-
-
-
3Gain-
XPC-
-
-
-
1Loss-
XPNPEP3-
-
-
-
3Gain-
XPO1-
-
-
-
8Amp-
XPO5-
-
-
-
3Gain-
XPR1-
-
-
-
3Gain-
XRCC1-
-
-
-
1Loss-
XRCC2-
-
-
-
3Gain-
XRCC3-
-
-
-
1Loss-
XRCC4-
-
-
-
3Gain-
XRCC6-
-
-
-
3Gain-
XRRA1-
-
-
-
3Gain-
XYLT2-
-
-
-
3Gain-
YAE1-
-
-
-
3Gain-
YAP1-
-
-
-
1Loss-
YARS-
-
-
-
3Gain-
YARS2-
-
-
-
3Gain-
YBX1-
-
-
-
3Gain-
YBX3-
-
-
-
3Gain-
YDJC-
-
-
-
3Gain-
YIF1A-
-
-
-
3Gain-
YIPF1-
-
-
-
3Gain-
YIPF3-
-
-
-
3Gain-
YIPF5-
-
-
-
3Gain-
YJU2-
-
-
-
1Loss-
YKT6-
-
-
-
3Gain-
YOD1-
-
-
-
3Gain-
YPEL1-
-
-
-
3Gain-
YPEL2-
-
-
-
3Gain-
YPEL4-
-
-
-
3Gain-
YRDC-
-
-
-
3Gain-
YTHDC2-
-
-
-
3Gain-
YTHDF1-
-
-
-
5Amp-
YTHDF2-
-
-
-
3Gain-
YTHDF3-
-
-
-
3Gain-
YWHAB-
-
-
-
5Amp-
YWHAG-
-
-
-
3Gain-
YWHAH-
-
-
-
3Gain-
YWHAZ-
-
-
-
3Gain-
YY1-
-
-
-
1Loss-
YY1AP1-
-
-
-
3Gain-
Z82190.2-
-
-
-
3Gain-
Z83844.1-
-
-
-
3Gain-
Z83844.3-
-
-
-
3Gain-
Z98752.3-
-
-
-
5Amp-
ZACN-
-
-
-
3Gain-
ZANp.P71L
Missense
SNP
1.000
3Gain-
ZAP70-
-
-
-
1Loss-
ZBED3-
-
-
-
3Gain-
ZBED4-
-
-
-
3Gain-
ZBED6-
-
-
-
3Gain-
ZBED6CL-
-
-
-
3Gain-
ZBED8-
-
-
-
3Gain-
ZBED9p.S1213L
p.M653I
Missense
Missense
SNP
SNP
0.281
0.377
2--
ZBP1-
-
-
-
5Amp-
ZBTB10-
-
-
-
3Gain-
ZBTB11p.S405F
Missense
SNP
0.421
2--
ZBTB16-
-
-
-
1Loss-
ZBTB17-
-
-
-
3Gain-
ZBTB18-
-
-
-
3Gain-
ZBTB22-
-
-
-
3Gain-
ZBTB3-
-
-
-
3Gain-
ZBTB37-
-
-
-
3Gain-
ZBTB40-
-
-
-
3Gain-
ZBTB41-
-
-
-
3Gain-
ZBTB42-
-
-
-
1Loss-
ZBTB44-
-
-
-
1Loss-
ZBTB45-
-
-
-
1Loss-
ZBTB46-
-
-
-
5Amp-
ZBTB48-
-
-
-
3Gain-
ZBTB7A-
-
-
-
1Loss-
ZBTB7B-
-
-
-
3Gain-
ZBTB8A-
-
-
-
3Gain-
ZBTB8B-
-
-
-
3Gain-
ZBTB8OS-
-
-
-
3Gain-
ZBTB9-
-
-
-
3Gain-
ZC2HC1A-
-
-
-
3Gain-
ZC3H11A-
-
-
-
3Gain-
ZC3H12A-
-
-
-
3Gain-
ZC3H12C-
-
-
-
1Loss-
ZC3H4p.R266*
Nonsense
SNP
0.485
2--
ZC3H6-
-
-
-
1Loss-
ZC3H7B-
-
-
-
3Gain-
ZC3H8-
-
-
-
1Loss-
ZC3HAV1-
-
-
-
3Gain-
ZC3HAV1L-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZCCHC10-
-
-
-
3Gain-
ZCCHC16p.S8L
Missense
SNP
0.490
NDND-
ZCCHC17-
-
-
-
3Gain-
ZCCHC8-
-
-
-
3Gain-
ZCCHC9-
-
-
-
3Gain-
ZCWPW1p.R369C
Missense
SNP
0.515
3Gain-
ZCWPW2-
-
-
-
1Loss-
ZDHHC18-
-
-
-
3Gain-
ZDHHC24-
-
-
-
3Gain-
ZDHHC4-
-
-
-
3Gain-
ZDHHC5-
-
-
-
3Gain-
ZDHHC8-
-
-
-
3Gain-
ZFAND1-
-
-
-
3Gain-
ZFAND2A-
-
-
-
3Gain-
ZFAND3-
-
-
-
3Gain-
ZFAND6-
-
-
-
3Gain-
ZFHX2-
-
-
-
1Loss-
ZFHX4p.H196Y
p.S640L
p.H3025Y
p.R3441C
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.333
0.661
0.294
0.687
3Gain-
ZFP2-
-
-
-
3Gain-
ZFP62-
-
-
-
3Gain-
ZFP64p.S631F
Missense
SNP
0.605
5Amp-
ZFP69-
-
-
-
3Gain-
ZFP69B-
-
-
-
3Gain-
ZFP91-
-
-
-
3Gain-
ZFP91-CNTF-
-
-
-
3Gain-
ZFPL1-
-
-
-
3Gain-
ZFPM2p.P251S
p.D715N
p.H854Y
Missense
Missense
Missense
SNP
SNP
SNP
0.706
0.612
0.290
3Gain-
ZFR2-
-
-
-
1Loss-
ZFYVE16-
-
-
-
3Gain-
ZFYVE19-
-
-
-
3Gain-
ZFYVE21-
-
-
-
1Loss-
ZFYVE9-
-
-
-
3Gain-
ZGPAT-
-
-
-
5Amp-
ZHX3-
-
-
-
5Amp-
ZIK1-
-
-
-
1Loss-
ZKSCAN1-
-
-
-
3Gain-
ZKSCAN5p.P192S
Missense
SNP
0.503
3Gain-
ZMAT2-
-
-
-
3Gain-
ZMAT5-
-
-
-
3Gain-
ZMIZ2-
-
-
-
3Gain-
ZMPSTE24-
-
-
-
3Gain-
ZMYM1-
-
-
-
3Gain-
ZMYM4-
-
-
-
3Gain-
ZMYM6-
-
-
-
3Gain-
ZMYND12-
-
-
-
3Gain-
ZMYND8-
-
-
-
5Amp-
ZNF100-
-
-
-
1Loss-
ZNF101-
-
-
-
1Loss-
ZNF106-
-
-
-
3Gain-
ZNF107-
-
-
-
3Gain-
ZNF112-
-
-
-
1Loss-
ZNF117-
-
-
-
3Gain-
ZNF12-
-
-
-
3Gain-
ZNF124-
-
-
-
3Gain-
ZNF132-
-
-
-
1Loss-
ZNF134-
-
-
-
1Loss-
ZNF135-
-
-
-
1Loss-
ZNF138-
-
-
-
3Gain-
ZNF14-
-
-
-
1Loss-
ZNF154-
-
-
-
1Loss-
ZNF155-
-
-
-
1Loss-
ZNF16-
-
-
-
3Gain-
ZNF160-
-
-
-
1Loss-
ZNF17-
-
-
-
1Loss-
ZNF175-
-
-
-
1Loss-
ZNF180-
-
-
-
1Loss-
ZNF2-
-
-
-
1Loss-
ZNF202-
-
-
-
1Loss-
ZNF208p.R713K
Missense
SNP
0.401
1Loss-
ZNF211-
-
-
-
1Loss-
ZNF212-
-
-
-
3Gain-
ZNF217-
-
-
-
5Amp-
ZNF221-
-
-
-
1Loss-
ZNF222-
-
-
-
1Loss-
ZNF223-
-
-
-
1Loss-
ZNF224-
-
-
-
1Loss-
ZNF225-
-
-
-
1Loss-
ZNF226-
-
-
-
1Loss-
ZNF227-
-
-
-
1Loss-
ZNF229-
-
-
-
1Loss-
ZNF230-
-
-
-
1Loss-
ZNF233-
-
-
-
1Loss-
ZNF234-
-
-
-
1Loss-
ZNF235-
-
-
-
1Loss-
ZNF250-
-
-
-
3Gain-
ZNF251-
-
-
-
3Gain-
ZNF253-
-
-
-
1Loss-
ZNF254-
-
-
-
1Loss-
ZNF256-
-
-
-
1Loss-
ZNF257-
-
-
-
1Loss-
ZNF264-
-
-
-
1Loss-
ZNF273-
-
-
-
3Gain-
ZNF274-
-
-
-
1Loss-
ZNF277-
-
-
-
3Gain-
ZNF28-
-
-
-
1Loss-
ZNF280A-
-
-
-
3Gain-
ZNF280B-
-
-
-
3Gain-
ZNF280D-
-
-
-
3Gain-
ZNF281p.P706S
Missense
SNP
0.326
3Gain-
ZNF282-
-
-
-
3Gain-
ZNF283-
-
-
-
1Loss-
ZNF284-
-
-
-
1Loss-
ZNF285-
-
-
-
1Loss-
ZNF292-
-
-
-
3Gain-
ZNF3-
-
-
-
3Gain-
ZNF300p.H587Y
Missense
SNP
0.660
3Gain-
ZNF304-
-
-
-
1Loss-
ZNF316-
-
-
-
3Gain-
ZNF318-
-
-
-
3Gain-
ZNF320-
-
-
-
1Loss-
ZNF324-
-
-
-
1Loss-
ZNF324Bp.R222C
Missense
SNP
0.508
1Loss-
ZNF326-
-
-
-
3Gain-
ZNF329-
-
-
-
1Loss-
ZNF331p.S130F
Missense
SNP
0.500
1Loss-
ZNF334-
-
-
-
5Amp-
ZNF335-
-
-
-
5Amp-
ZNF34-
-
-
-
3Gain-
ZNF341-
-
-
-
5Amp-
ZNF346-
-
-
-
3Gain-
ZNF347-
-
-
-
1Loss-
ZNF350-
-
-
-
1Loss-
ZNF354A-
-
-
-
3Gain-
ZNF354Bp.S306F
Missense
SNP
0.643
3Gain-
ZNF354C-
-
-
-
3Gain-
ZNF362-
-
-
-
3Gain-
ZNF366-
-
-
-
3Gain-
ZNF384-
-
-
-
3Gain-
ZNF385C-
-
-
-
3Gain-
ZNF385D-
-
-
-
1Loss-
ZNF394-
-
-
-
3Gain-
ZNF398-
-
-
-
3Gain-
ZNF404-
-
-
-
1Loss-
ZNF415-
-
-
-
1Loss-
ZNF416-
-
-
-
1Loss-
ZNF417-
-
-
-
1Loss-
ZNF418-
-
-
-
1Loss-
ZNF419-
-
-
-
1Loss-
ZNF425-
-
-
-
3Gain-
ZNF428-
-
-
-
1Loss-
ZNF429-
-
-
-
1Loss-
ZNF43-
-
-
-
1Loss-
ZNF430-
-
-
-
1Loss-
ZNF431-
-
-
-
1Loss-
ZNF432-
-
-
-
1Loss-
ZNF436-
-
-
-
3Gain-
ZNF446-
-
-
-
1Loss-
ZNF45-
-
-
-
1Loss-
ZNF451-
-
-
-
3Gain-
ZNF454-
-
-
-
3Gain-
ZNF460-
-
-
-
1Loss-
ZNF467-
-
-
-
3Gain-
ZNF468-
-
-
-
1Loss-
ZNF474-
-
-
-
3Gain-
ZNF479p.G517R
Missense
SNP
0.315
3Gain-
ZNF480-
-
-
-
1Loss-
ZNF486-
-
-
-
1Loss-
ZNF492-
-
-
-
1Loss-
ZNF493-
-
-
-
1Loss-
ZNF496-
-
-
-
3Gain-
ZNF497-
-
-
-
1Loss-
ZNF506-
-
-
-
1Loss-
ZNF512B-
-
-
-
5Amp-
ZNF514-
-
-
-
1Loss-
ZNF517-
-
-
-
3Gain-
ZNF525-
-
-
-
1Loss-
ZNF528-
-
-
-
1Loss-
ZNF530-
-
-
-
1Loss-
ZNF534-
-
-
-
1Loss-
ZNF536p.E448K
p.S1129F
Missense
Missense
SNP
SNP
0.483
0.394
2--
ZNF543-
-
-
-
1Loss-
ZNF544-
-
-
-
1Loss-
ZNF547-
-
-
-
1Loss-
ZNF548-
-
-
-
1Loss-
ZNF549-
-
-
-
1Loss-
ZNF550-
-
-
-
1Loss-
ZNF551-
-
-
-
1Loss-
ZNF552-
-
-
-
1Loss-
ZNF554-
-
-
-
1Loss-
ZNF555-
-
-
-
1Loss-
ZNF556-
-
-
-
1Loss-
ZNF57-
-
-
-
1Loss-
ZNF575-
-
-
-
1Loss-
ZNF576-
-
-
-
1Loss-
ZNF577-
-
-
-
1Loss-
ZNF578-
-
-
-
1Loss-
ZNF583p.E325K
Missense
SNP
0.448
2--
ZNF584-
-
-
-
1Loss-
ZNF585Bp.H236Y
Missense
SNP
0.513
2--
ZNF586-
-
-
-
1Loss-
ZNF587-
-
-
-
1Loss-
ZNF587B-
-
-
-
1Loss-
ZNF592-
-
-
-
3Gain-
ZNF593-
-
-
-
3Gain-
ZNF600p.H576Y
Missense
SNP
0.443
1Loss-
ZNF606-
-
-
-
1Loss-
ZNF608-
-
-
-
3Gain-
ZNF609-
-
-
-
3Gain-
ZNF610-
-
-
-
1Loss-
ZNF611-
-
-
-
1Loss-
ZNF613-
-
-
-
1Loss-
ZNF614-
-
-
-
1Loss-
ZNF615-
-
-
-
1Loss-
ZNF616-
-
-
-
1Loss-
ZNF626-
-
-
-
1Loss-
ZNF644-
-
-
-
3Gain-
ZNF648p.G341R
Missense
SNP
0.666
3Gain-
ZNF649-
-
-
-
1Loss-
ZNF652p.P517S
Missense
SNP
0.620
3Gain-
ZNF655-
-
-
-
3Gain-
ZNF66-
-
-
-
1Loss-
ZNF665-
-
-
-
1Loss-
ZNF669-
-
-
-
3Gain-
ZNF670-
-
-
-
3Gain-
ZNF670-ZNF695-
-
-
-
3Gain-
ZNF671-
-
-
-
1Loss-
ZNF672-
-
-
-
3Gain-
ZNF675p.P367L
Missense
SNP
0.426
1Loss-
ZNF676-
-
-
-
1Loss-
ZNF677-
-
-
-
1Loss-
ZNF678-
-
-
-
3Gain-
ZNF679p.H346Y
Missense
SNP
0.481
3Gain-
ZNF680-
-
-
-
3Gain-
ZNF681-
-
-
-
1Loss-
ZNF682-
-
-
-
1Loss-
ZNF683-
-
-
-
3Gain-
ZNF684-
-
-
-
3Gain-
ZNF687-
-
-
-
3Gain-
ZNF691-
-
-
-
3Gain-
ZNF692-
-
-
-
3Gain-
ZNF695-
-
-
-
3Gain-
ZNF697-
-
-
-
3Gain-
ZNF7-
-
-
-
3Gain-
ZNF70-
-
-
-
3Gain-
ZNF701-
-
-
-
1Loss-
ZNF704-
-
-
-
3Gain-
ZNF705A-
-
-
-
3Gain-
ZNF706-
-
-
-
3Gain-
ZNF708-
-
-
-
1Loss-
ZNF710-
-
-
-
3Gain-
ZNF713-
-
-
-
3Gain-
ZNF714-
-
-
-
1Loss-
ZNF716p.R400K
Missense
SNP
0.497
3Gain-
ZNF723-
-
-
-
1Loss-
ZNF724-
-
-
-
1Loss-
ZNF726-
-
-
-
1Loss-
ZNF727-
-
-
-
3Gain-
ZNF728-
-
-
-
1Loss-
ZNF729-
-
-
-
1Loss-
ZNF730-
-
-
-
1Loss-
ZNF735-
-
-
-
3Gain-
ZNF736-
-
-
-
3Gain-
ZNF737-
-
-
-
1Loss-
ZNF738-
-
-
-
1Loss-
ZNF74-
-
-
-
3Gain-
ZNF746-
-
-
-
3Gain-
ZNF749-
-
-
-
1Loss-
ZNF750-
-
-
-
3Gain-
ZNF76-
-
-
-
3Gain-
ZNF761-
-
-
-
1Loss-
ZNF765-
-
-
-
1Loss-
ZNF766-
-
-
-
1Loss-
ZNF77-
-
-
-
1Loss-
ZNF770-
-
-
-
3Gain-
ZNF772-
-
-
-
1Loss-
ZNF773-
-
-
-
1Loss-
ZNF774-
-
-
-
3Gain-
ZNF775-
-
-
-
3Gain-
ZNF776-
-
-
-
1Loss-
ZNF777-
-
-
-
3Gain-
ZNF783-
-
-
-
3Gain-
ZNF786p.G459V
Missense
SNP
0.425
3Gain-
ZNF789-
-
-
-
3Gain-
ZNF799p.P405S
Missense
SNP
0.381
2--
ZNF8-
-
-
-
1Loss-
ZNF800-
-
-
-
3Gain-
ZNF804Bp.P34S
Missense
SNP
0.471
3Gain-
ZNF805-
-
-
-
1Loss-
ZNF808-
-
-
-
1Loss-
ZNF813-
-
-
-
1Loss-
ZNF814-
-
-
-
1Loss-
ZNF816-
-
-
-
1Loss-
ZNF816-ZNF321P-
-
-
-
1Loss-
ZNF83-
-
-
-
1Loss-
ZNF831p.E216K
Missense
SNP
0.577
5Amp-
ZNF836-
-
-
-
1Loss-
ZNF837-
-
-
-
1Loss-
ZNF839-
-
-
-
1Loss-
ZNF841-
-
-
-
1Loss-
ZNF845-
-
-
-
1Loss-
ZNF85-
-
-
-
1Loss-
ZNF853-
-
-
-
3Gain-
ZNF860-
-
-
-
1Loss-
ZNF862-
-
-
-
3Gain-
ZNF879-
-
-
-
3Gain-
ZNF880-
-
-
-
1Loss-
ZNF888-
-
-
-
1Loss-
ZNF90-
-
-
-
1Loss-
ZNF91-
-
-
-
1Loss-
ZNF92-
-
-
-
3Gain-
ZNF93-
-
-
-
1Loss-
ZNF98p.R370K
Missense
SNP
0.618
1Loss-
ZNF99p.H447Y
Missense
SNP
0.677
1Loss-
ZNFX1-
-
-
-
5Amp-
ZNHIT1-
-
-
-
3Gain-
ZNHIT2-
-
-
-
3Gain-
ZNHIT6-
-
-
-
3Gain-
ZNRF2-
-
-
-
3Gain-
ZNRF3-
-
-
-
3Gain-
ZP1-
-
-
-
3Gain-
ZP3-
-
-
-
3Gain-
ZP4-
-
-
-
3Gain-
ZPBP-
-
-
-
3Gain-
ZPBP2-
-
-
-
3Gain-
ZPR1-
-
-
-
1Loss-
ZRANB2-
-
-
-
3Gain-
ZSCAN1-
-
-
-
1Loss-
ZSCAN18-
-
-
-
1Loss-
ZSCAN2-
-
-
-
3Gain-
ZSCAN20-
-
-
-
3Gain-
ZSCAN21-
-
-
-
3Gain-
ZSCAN22-
-
-
-
1Loss-
ZSCAN25-
-
-
-
3Gain-
ZSCAN29-
-
-
-
3Gain-
ZSCAN4-
-
-
-
1Loss-
ZSWIM1-
-
-
-
5Amp-
ZSWIM3p.R407W
Missense
SNP
0.619
5Amp-
ZSWIM5-
-
-
-
3Gain-
ZSWIM6-
-
-
-
3Gain-
ZW10-
-
-
-
1Loss-
ZWILCH-
-
-
-
3Gain-
ZYG11A-
-
-
-
3Gain-
ZYG11B-
-
-
-
3Gain-
ZYX-
-
-
-
3Gain-