PDMR-994946~033-R~A3JEK7-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1CF-
-
-
-
1Loss-
A3GALT2-
-
-
-
3Gain-
A4GALT-
-
-
-
3Gain-
AAAS-
-
-
-
1Loss-
AADACp.R357C
Missense
SNP
0.267
2--
AADACL3-
-
-
-
3Gain-
AADACL4-
-
-
-
3Gain-
AADAT-
-
-
-
1Loss-
AAK1-
-
-
-
1Loss-
AAMDC-
-
-
-
1Loss-
AAR2-
-
-
-
3Gain-
AASDH-
-
-
-
1Loss-
AASDHPPT-
-
-
-
0Del-
ABCA12p.X2515_splice
p.E2209K
Splice_Site
Missense
SNP
SNP
0.317
0.372
2--
ABCA13p.D158N
Missense
SNP
0.476
3Gain-
ABCA4-
-
-
-
3Gain-
ABCA7-
-
-
-
1Loss-
ABCA8p.L1535F
Missense
SNP
0.395
2--
ABCB1p.R492C
Missense
SNP
0.661
2--
ABCB5-
-
-
-
3Gain-
ABCC2-
-
-
-
1Loss-
ABCC8-
-
-
-
1Loss-
ABCC9p.E1162K
Missense
SNP
0.342
2--
ABCD2-
-
-
-
1Loss-
ABCD3-
-
-
-
3Gain-
ABCD4-
-
-
-
1Loss-
ABCE1-
-
-
-
1Loss-
ABCG2-
-
-
-
1Loss-
ABCG4-
-
-
-
0Del-
ABCG5-
-
-
-
1Loss-
ABCG8-
-
-
-
1Loss-
ABHD1-
-
-
-
1Loss-
ABHD12-
-
-
-
1Loss-
ABHD12B-
-
-
-
1Loss-
ABHD15-
-
-
-
1Loss-
ABHD16B-
-
-
-
3Gain-
ABHD17A-
-
-
-
1Loss-
ABHD18-
-
-
-
1Loss-
ABHD4-
-
-
-
1Loss-
ABI1-
-
-
-
1Loss-
ABLIM1-
-
-
-
1Loss-
ABLIM2-
-
-
-
1Loss-
ABR-
-
-
-
1Loss-
ABRAXAS1-
-
-
-
1Loss-
ABRAXAS2-
-
-
-
1Loss-
ABTB2-
-
-
-
1Loss-
AC002094.3-
-
-
-
1Loss-
AC002996.1-
-
-
-
3Gain-
AC003688.1-
-
-
-
1Loss-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004691.2-
-
-
-
3Gain-
AC004832.3-
-
-
-
3Gain-
AC004997.1-
-
-
-
3Gain-
AC005041.1-
-
-
-
1Loss-
AC005154.5-
-
-
-
3Gain-
AC005258.1-
-
-
-
1Loss-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC005520.1-
-
-
-
1Loss-
AC005697.1-
-
-
-
1Loss-
AC005726.1-
-
-
-
1Loss-
AC005943.1-
-
-
-
1Loss-
AC006030.1-
-
-
-
1Loss-
AC006538.2-
-
-
-
1Loss-
AC006978.2-
-
-
-
3Gain-
AC007040.2-
-
-
-
1Loss-
AC007240.1-
-
-
-
1Loss-
AC007375.1-
-
-
-
1Loss-
AC007846.2-
-
-
-
1Loss-
AC008073.3-
-
-
-
1Loss-
AC010132.3-
-
-
-
3Gain-
AC010327.1-
-
-
-
3Gain-
AC011498.4-
-
-
-
1Loss-
AC012531.2-
-
-
-
1Loss-
AC013717.1-
-
-
-
1Loss-
AC015688.4-
-
-
-
1Loss-
AC017083.3-
-
-
-
1Loss-
AC018523.2-
-
-
-
1Loss-
AC018709.1-
-
-
-
1Loss-
AC019117.2-
-
-
-
3Gain-
AC020922.1-
-
-
-
3Gain-
AC022384.1-
-
-
-
1Loss-
AC022400.6-
-
-
-
1Loss-
AC023055.1-
-
-
-
1Loss-
AC023509.3-
-
-
-
1Loss-
AC025165.3-
-
-
-
1Loss-
AC025263.2-
-
-
-
1Loss-
AC026954.2-
-
-
-
1Loss-
AC027796.3-
-
-
-
1Loss-
AC034102.2-
-
-
-
1Loss-
AC037459.1-
-
-
-
1Loss-
AC055811.2-
-
-
-
1Loss-
AC058822.1-
-
-
-
1Loss-
AC067752.1-
-
-
-
1Loss-
AC068580.4-
-
-
-
1Loss-
AC068896.1-
-
-
-
1Loss-
AC073082.1-
-
-
-
1Loss-
AC073283.3-
-
-
-
1Loss-
AC073610.2-
-
-
-
1Loss-
AC073610.3-
-
-
-
1Loss-
AC073612.1-
-
-
-
1Loss-
AC073896.1-
-
-
-
1Loss-
AC078927.1-
-
-
-
1Loss-
AC084337.2-
-
-
-
1Loss-
AC090004.1-
-
-
-
1Loss-
AC091057.6-
-
-
-
1Loss-
AC092442.1-
-
-
-
1Loss-
AC092647.5-
-
-
-
3Gain-
AC093155.3-
-
-
-
3Gain-
AC093323.1-
-
-
-
1Loss-
AC093423.3-
-
-
-
3Gain-
AC093827.5-
-
-
-
1Loss-
AC097104.1-
-
-
-
1Loss-
AC098484.3-
-
-
-
3Gain-
AC098582.1-
-
-
-
1Loss-
AC098588.1-
-
-
-
1Loss-
AC098650.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC104389.4-
-
-
-
1Loss-
AC104389.5-
-
-
-
1Loss-
AC104581.2-
-
-
-
1Loss-
AC104662.2-
-
-
-
1Loss-
AC107959.5-
-
-
-
1Loss-
AC108488.2-
-
-
-
1Loss-
AC108941.2-
-
-
-
1Loss-
AC110275.1-
-
-
-
1Loss-
AC114490.2-
-
-
-
3Gain-
AC114490.3-
-
-
-
3Gain-
AC117378.1-
-
-
-
1Loss-
AC118549.1-
-
-
-
3Gain-
AC118553.2-
-
-
-
3Gain-
AC119674.2-
-
-
-
3Gain-
AC120057.2-
-
-
-
1Loss-
AC126283.2-
-
-
-
1Loss-
AC129492.3-
-
-
-
1Loss-
AC134669.1-
-
-
-
1Loss-
AC135178.2-
-
-
-
1Loss-
AC137834.1-
-
-
-
1Loss-
AC144573.1-
-
-
-
1Loss-
AC187653.1-
-
-
-
3Gain-
ACACB-
-
-
-
3Gain-
ACAD10-
-
-
-
3Gain-
ACAD8p.Q241*
Nonsense
SNP
0.981
0Del-
ACADLp.G94E
Missense
SNP
0.326
2--
ACADM-
-
-
-
3Gain-
ACADSB-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACAP3-
-
-
-
3Gain-
ACAT1-
-
-
-
0Del-
ACBD5-
-
-
-
1Loss-
ACBD7-
-
-
-
1Loss-
ACCS-
-
-
-
1Loss-
ACCSL-
-
-
-
1Loss-
ACER3-
-
-
-
1Loss-
ACIN1-
-
-
-
1Loss-
ACO2-
-
-
-
3Gain-
ACOT1-
-
-
-
1Loss-
ACOT11-
-
-
-
3Gain-
ACOT2-
-
-
-
1Loss-
ACOT4-
-
-
-
1Loss-
ACOT6-
-
-
-
1Loss-
ACOT7-
-
-
-
3Gain-
ACOT8-
-
-
-
3Gain-
ACOX3-
-
-
-
1Loss-
ACP1-
-
-
-
1Loss-
ACP2-
-
-
-
1Loss-
ACR-
-
-
-
3Gain-
ACRV1-
-
-
-
0Del-
ACSL1-
-
-
-
1Loss-
ACSL5-
-
-
-
1Loss-
ACSM2Bp.M140I
Missense
SNP
0.317
2--
ACSM4p.E418K
Missense
SNP
0.630
2--
ACSM6p.G66R
Missense
SNP
0.407
1Loss-
ACSS1-
-
-
-
1Loss-
ACSS2-
-
-
-
3Gain-
ACSS3-
-
-
-
1Loss-
ACTA2-
-
-
-
1Loss-
ACTB-
-
-
-
3Gain-
ACTG2-
-
-
-
1Loss-
ACTL10-
-
-
-
3Gain-
ACTL8-
-
-
-
3Gain-
ACTN1-
-
-
-
1Loss-
ACTN3-
-
-
-
1Loss-
ACTR10-
-
-
-
1Loss-
ACTR1A-
-
-
-
1Loss-
ACTR2-
-
-
-
1Loss-
ACTR5-
-
-
-
3Gain-
ACTR6-
-
-
-
1Loss-
ACTRT2-
-
-
-
3Gain-
ACVR1p.S290L
Missense
SNP
0.638
2--
ACVR1B-
-
-
-
1Loss-
ACVRL1-
-
-
-
1Loss-
ACY3p.D86N
Missense
SNP
0.474
1Loss-
ACYP1-
-
-
-
1Loss-
ACYP2-
-
-
-
1Loss-
ADA-
-
-
-
3Gain-
ADAD1-
-
-
-
1Loss-
ADAM12-
-
-
-
1Loss-
ADAM17-
-
-
-
1Loss-
ADAM18-
-
-
-
1Loss-
ADAM2-
-
-
-
1Loss-
ADAM20-
-
-
-
1Loss-
ADAM21-
-
-
-
1Loss-
ADAM28-
-
-
-
1Loss-
ADAM29-
-
-
-
1Loss-
ADAM30-
-
-
-
3Gain-
ADAM32-
-
-
-
1Loss-
ADAM33-
-
-
-
1Loss-
ADAM7p.P491S
p.P548S
Missense
Missense
SNP
SNP
0.527
0.461
1Loss-
ADAM8-
-
-
-
1Loss-
ADAM9-
-
-
-
1Loss-
ADAMDEC1-
-
-
-
1Loss-
ADAMTS12-
-
-
-
1Loss-
ADAMTS14-
-
-
-
1Loss-
ADAMTS15-
-
-
-
0Del-
ADAMTS16-
-
-
-
1Loss-
ADAMTS18p.P861S
Missense
SNP
0.331
2--
ADAMTS19p.E582K
Missense
SNP
0.634
2--
ADAMTS20-
-
-
-
1Loss-
ADAMTS3-
-
-
-
1Loss-
ADAMTS8-
-
-
-
0Del-
ADAMTSL5-
-
-
-
1Loss-
ADAP1-
-
-
-
3Gain-
ADAP2-
-
-
-
1Loss-
ADARB2-
-
-
-
1Loss-
ADAT1p.S441L
Missense
SNP
0.291
2--
ADAT3-
-
-
-
1Loss-
ADCK1-
-
-
-
1Loss-
ADCY1-
-
-
-
3Gain-
ADCY2-
-
-
-
1Loss-
ADCY3-
-
-
-
1Loss-
ADCY4-
-
-
-
1Loss-
ADCY5p.E1031K
Missense
SNP
0.357
2--
ADCY6-
-
-
-
1Loss-
ADCYAP1R1-
-
-
-
3Gain-
ADD1-
-
-
-
1Loss-
ADD2-
-
-
-
1Loss-
ADD3-
-
-
-
1Loss-
ADGRA1-
-
-
-
1Loss-
ADGRA2-
-
-
-
1Loss-
ADGRA3-
-
-
-
1Loss-
ADGRB2-
-
-
-
3Gain-
ADGRB3p.D604N
Missense
SNP
0.457
2--
ADGRF3-
-
-
-
1Loss-
ADGRL2-
-
-
-
3Gain-
ADGRL3-
-
-
-
1Loss-
ADGRL4-
-
-
-
3Gain-
ADGRV1p.D1693N
Missense
SNP
0.324
2--
ADH1A-
-
-
-
1Loss-
ADH1B-
-
-
-
1Loss-
ADH1C-
-
-
-
1Loss-
ADH4-
-
-
-
1Loss-
ADH5-
-
-
-
1Loss-
ADH6-
-
-
-
1Loss-
ADH7-
-
-
-
1Loss-
ADI1-
-
-
-
1Loss-
ADIG-
-
-
-
3Gain-
ADIRF-
-
-
-
1Loss-
ADK-
-
-
-
1Loss-
ADM-
-
-
-
1Loss-
ADM2-
-
-
-
3Gain-
ADNP-
-
-
-
3Gain-
ADO-
-
-
-
1Loss-
ADORA2B-
-
-
-
1Loss-
ADORA3-
-
-
-
3Gain-
ADPRHL2-
-
-
-
3Gain-
ADPRM-
-
-
-
1Loss-
ADRA1A-
-
-
-
1Loss-
ADRA1D-
-
-
-
1Loss-
ADRA2A-
-
-
-
1Loss-
ADRA2C-
-
-
-
1Loss-
ADRB1-
-
-
-
1Loss-
ADRB3-
-
-
-
1Loss-
ADRM1-
-
-
-
3Gain-
ADSL-
-
-
-
3Gain-
ADSSL1-
-
-
-
1Loss-
AEBP1-
-
-
-
3Gain-
AES-
-
-
-
1Loss-
AFAP1-
-
-
-
1Loss-
AFAP1L2-
-
-
-
1Loss-
AFF1-
-
-
-
1Loss-
AFM-
-
-
-
1Loss-
AFP-
-
-
-
1Loss-
AFTPH-
-
-
-
1Loss-
AGA-
-
-
-
1Loss-
AGAP2-
-
-
-
1Loss-
AGBL2-
-
-
-
1Loss-
AGBL4-
-
-
-
3Gain-
AGBL5-
-
-
-
1Loss-
AGL-
-
-
-
3Gain-
AGMAT-
-
-
-
3Gain-
AGMO-
-
-
-
3Gain-
AGO1-
-
-
-
3Gain-
AGO3-
-
-
-
3Gain-
AGO4p.H34Y
Missense
SNP
0.513
3Gain-
AGPAT5-
-
-
-
1Loss-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGRN-
-
-
-
3Gain-
AGTRAP-
-
-
-
3Gain-
AGXT2-
-
-
-
1Loss-
AHCY-
-
-
-
3Gain-
AHCYL1-
-
-
-
3Gain-
AHDC1-
-
-
-
3Gain-
AHNAK-
-
-
-
1Loss-
AHNAK2-
-
-
-
1Loss-
AHR-
-
-
-
3Gain-
AHRR-
-
-
-
1Loss-
AHSA1-
-
-
-
1Loss-
AIFM2-
-
-
-
1Loss-
AIMP1-
-
-
-
1Loss-
AIMP2-
-
-
-
3Gain-
AIP-
-
-
-
1Loss-
AIPL1-
-
-
-
1Loss-
AJAP1-
-
-
-
3Gain-
AJUBA-
-
-
-
1Loss-
AK2-
-
-
-
3Gain-
AK4-
-
-
-
3Gain-
AK5-
-
-
-
3Gain-
AK7-
-
-
-
1Loss-
AKAP10-
-
-
-
1Loss-
AKAP5-
-
-
-
1Loss-
AKAP6-
-
-
-
1Loss-
AKIP1-
-
-
-
1Loss-
AKIRIN1-
-
-
-
3Gain-
AKNAD1-
-
-
-
3Gain-
AKR1A1-
-
-
-
3Gain-
AKR1C1-
-
-
-
1Loss-
AKR1C2-
-
-
-
1Loss-
AKR1C3-
-
-
-
1Loss-
AKR1C4p.L235I
Missense
SNP
0.368
1Loss-
AKR1C8P-
-
-
-
1Loss-
AKR1D1p.E80K
Missense
SNP
0.351
2--
AKR1E2-
-
-
-
1Loss-
AKR7A2-
-
-
-
3Gain-
AKR7A3-
-
-
-
3Gain-
AKR7L-
-
-
-
3Gain-
AKT1-
-
-
-
1Loss-
AL020996.2-
-
-
-
3Gain-
AL022238.4-
-
-
-
3Gain-
AL022318.4-
-
-
-
3Gain-
AL031281.2-
-
-
-
3Gain-
AL031847.2-
-
-
-
3Gain-
AL033529.1-
-
-
-
3Gain-
AL035078.4-
-
-
-
1Loss-
AL035460.1-
-
-
-
1Loss-
AL049557.1-
-
-
-
3Gain-
AL049629.2-
-
-
-
1Loss-
AL049634.2-
-
-
-
1Loss-
AL049650.1-
-
-
-
1Loss-
AL049779.1-
-
-
-
1Loss-
AL049839.2-
-
-
-
1Loss-
AL080251.1-
-
-
-
3Gain-
AL096870.1-
-
-
-
1Loss-
AL109811.4-
-
-
-
3Gain-
AL109827.1-
-
-
-
3Gain-
AL110118.2-
-
-
-
1Loss-
AL117339.5-
-
-
-
1Loss-
AL121594.1-
-
-
-
1Loss-
AL121722.1-
-
-
-
1Loss-
AL121753.1-
-
-
-
3Gain-
AL121758.1-
-
-
-
1Loss-
AL121845.2-
-
-
-
3Gain-
AL121845.3-
-
-
-
3Gain-
AL121900.2-
-
-
-
1Loss-
AL132780.3-
-
-
-
1Loss-
AL133352.1-
-
-
-
1Loss-
AL133353.2-
-
-
-
1Loss-
AL136295.1-
-
-
-
1Loss-
AL136295.3-
-
-
-
1Loss-
AL136295.4-
-
-
-
1Loss-
AL136295.5-
-
-
-
1Loss-
AL136531.2-
-
-
-
1Loss-
AL139300.1-
-
-
-
1Loss-
AL139353.1-
-
-
-
1Loss-
AL157392.5-
-
-
-
1Loss-
AL163195.3-
-
-
-
1Loss-
AL163636.2-
-
-
-
1Loss-
AL355102.2-
-
-
-
1Loss-
AL355315.1-
-
-
-
1Loss-
AL355916.2-
-
-
-
1Loss-
AL357673.1-
-
-
-
3Gain-
AL358075.4-
-
-
-
3Gain-
AL360181.3-
-
-
-
1Loss-
AL365273.2-
-
-
-
1Loss-
AL445238.1-
-
-
-
3Gain-
AL445685.3-
-
-
-
3Gain-
AL445989.1-
-
-
-
3Gain-
AL449266.1-
-
-
-
3Gain-
AL451062.3-
-
-
-
3Gain-
AL583836.1-
-
-
-
1Loss-
AL603832.3-
-
-
-
3Gain-
AL672043.1-
-
-
-
3Gain-
AL928654.3-
-
-
-
1Loss-
ALB-
-
-
-
1Loss-
ALDH18A1-
-
-
-
1Loss-
ALDH1L2-
-
-
-
0Del-
ALDH2-
-
-
-
3Gain-
ALDH3A1-
-
-
-
1Loss-
ALDH3A2-
-
-
-
1Loss-
ALDH3B1-
-
-
-
1Loss-
ALDH3B2-
-
-
-
1Loss-
ALDH4A1-
-
-
-
3Gain-
ALDH6A1-
-
-
-
1Loss-
ALDOC-
-
-
-
1Loss-
ALG10p.R416C
Missense
SNP
0.666
2--
ALG10B-
-
-
-
1Loss-
ALG12-
-
-
-
3Gain-
ALG14-
-
-
-
3Gain-
ALG6-
-
-
-
3Gain-
ALG8-
-
-
-
1Loss-
ALG9-
-
-
-
0Del-
ALK-
-
-
-
1Loss-
ALKAL1-
-
-
-
1Loss-
ALKAL2-
-
-
-
1Loss-
ALKBH1-
-
-
-
1Loss-
ALKBH2-
-
-
-
3Gain-
ALKBH3-
-
-
-
1Loss-
ALKBH5-
-
-
-
1Loss-
ALKBH8-
-
-
-
0Del-
ALLC-
-
-
-
1Loss-
ALMS1-
-
-
-
1Loss-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOX5-
-
-
-
1Loss-
ALOXE3-
-
-
-
1Loss-
ALPK1-
-
-
-
1Loss-
ALPL-
-
-
-
3Gain-
ALPPL2p.G413R
Missense
SNP
0.429
NDND-
ALX1-
-
-
-
1Loss-
ALX3-
-
-
-
3Gain-
ALX4-
-
-
-
1Loss-
AMACR-
-
-
-
1Loss-
AMBN-
-
-
-
1Loss-
AMBRA1-
-
-
-
1Loss-
AMDHD1-
-
-
-
1Loss-
AMH-
-
-
-
1Loss-
AMHR2-
-
-
-
1Loss-
AMIGO1-
-
-
-
3Gain-
AMIGO2-
-
-
-
1Loss-
AMN-
-
-
-
1Loss-
AMOTL1p.R238C
Missense
SNP
0.493
1Loss-
AMPD1-
-
-
-
3Gain-
AMPD2-
-
-
-
3Gain-
AMPD3-
-
-
-
1Loss-
AMPH-
-
-
-
3Gain-
AMTN-
-
-
-
1Loss-
AMY2A-
-
-
-
3Gain-
AMY2B-
-
-
-
3Gain-
AMZ1-
-
-
-
3Gain-
ANAPC10-
-
-
-
1Loss-
ANAPC15-
-
-
-
1Loss-
ANAPC16-
-
-
-
1Loss-
ANAPC4-
-
-
-
1Loss-
ANG-
-
-
-
1Loss-
ANGEL1-
-
-
-
1Loss-
ANGPT2-
-
-
-
1Loss-
ANGPT4-
-
-
-
1Loss-
ANGPTL3-
-
-
-
3Gain-
ANGPTL5-
-
-
-
0Del-
ANGPTL7-
-
-
-
3Gain-
ANK1-
-
-
-
1Loss-
ANK2-
-
-
-
1Loss-
ANK3p.Q611*
Nonsense
SNP
0.526
1Loss-
ANKEF1-
-
-
-
1Loss-
ANKFY1-
-
-
-
1Loss-
ANKH-
-
-
-
1Loss-
ANKK1-
-
-
-
0Del-
ANKMY2-
-
-
-
3Gain-
ANKRD1-
-
-
-
1Loss-
ANKRD13A-
-
-
-
0Del-
ANKRD13B-
-
-
-
1Loss-
ANKRD13C-
-
-
-
3Gain-
ANKRD13D-
-
-
-
1Loss-
ANKRD16-
-
-
-
1Loss-
ANKRD17-
-
-
-
1Loss-
ANKRD2-
-
-
-
1Loss-
ANKRD22-
-
-
-
1Loss-
ANKRD24-
-
-
-
1Loss-
ANKRD26-
-
-
-
1Loss-
ANKRD28-
-
-
-
1Loss-
ANKRD30A-
-
-
-
1Loss-
ANKRD33-
-
-
-
1Loss-
ANKRD33B-
-
-
-
1Loss-
ANKRD37-
-
-
-
1Loss-
ANKRD42-
-
-
-
1Loss-
ANKRD49-
-
-
-
1Loss-
ANKRD50-
-
-
-
1Loss-
ANKRD52-
-
-
-
1Loss-
ANKRD53-
-
-
-
1Loss-
ANKRD54-
-
-
-
3Gain-
ANKRD60p.E175K
Missense
SNP
0.419
3Gain-
ANKRD61-
-
-
-
3Gain-
ANKRD65-
-
-
-
3Gain-
ANKRD9-
-
-
-
1Loss-
ANKS1B-
-
-
-
1Loss-
ANLN-
-
-
-
3Gain-
ANO1-
-
-
-
1Loss-
ANO3p.S36F
Missense
SNP
0.453
1Loss-
ANO4-
-
-
-
1Loss-
ANO5-
-
-
-
1Loss-
ANO6-
-
-
-
1Loss-
ANO9-
-
-
-
1Loss-
ANP32D-
-
-
-
1Loss-
ANTXR1-
-
-
-
1Loss-
ANTXR2-
-
-
-
1Loss-
ANTXRL-
-
-
-
1Loss-
ANXA10p.G9E
Missense
SNP
0.995
1Loss-
ANXA11-
-
-
-
1Loss-
ANXA2R-
-
-
-
1Loss-
ANXA3-
-
-
-
1Loss-
ANXA4-
-
-
-
1Loss-
ANXA5-
-
-
-
1Loss-
ANXA7-
-
-
-
1Loss-
ANXA8-
-
-
-
1Loss-
ANXA8L1-
-
-
-
1Loss-
AOAHp.W274*
Nonsense
SNP
0.454
3Gain-
AOC1p.E611K
Missense
SNP
0.275
2--
AP000646.1-
-
-
-
0Del-
AP000721.1-
-
-
-
1Loss-
AP000781.2-
-
-
-
1Loss-
AP000812.4-
-
-
-
1Loss-
AP000812.5-
-
-
-
1Loss-
AP000944.2-
-
-
-
1Loss-
AP001267.5-
-
-
-
0Del-
AP001273.2-
-
-
-
1Loss-
AP001458.2-
-
-
-
1Loss-
AP001781.2-
-
-
-
0Del-
AP001931.1-
-
-
-
1Loss-
AP002373.1-
-
-
-
0Del-
AP002495.1-
-
-
-
1Loss-
AP002512.3-
-
-
-
1Loss-
AP002748.4-
-
-
-
1Loss-
AP002884.3-
-
-
-
0Del-
AP002990.1-
-
-
-
1Loss-
AP003108.2-
-
-
-
1Loss-
AP003419.1-
-
-
-
1Loss-
AP1AR-
-
-
-
1Loss-
AP1G2-
-
-
-
1Loss-
AP2A2-
-
-
-
1Loss-
AP2B1-
-
-
-
1Loss-
AP3D1-
-
-
-
1Loss-
AP3M1-
-
-
-
1Loss-
AP3M2-
-
-
-
1Loss-
AP4B1-
-
-
-
3Gain-
AP4S1-
-
-
-
1Loss-
AP5B1-
-
-
-
1Loss-
AP5M1-
-
-
-
1Loss-
AP5S1-
-
-
-
1Loss-
AP5Z1-
-
-
-
3Gain-
APAF1-
-
-
-
1Loss-
APBA3-
-
-
-
1Loss-
APBB1-
-
-
-
1Loss-
APBB1IP-
-
-
-
1Loss-
APBB2-
-
-
-
1Loss-
APC2-
-
-
-
1Loss-
APCDD1L-
-
-
-
3Gain-
APEX1-
-
-
-
1Loss-
API5-
-
-
-
1Loss-
APIP-
-
-
-
1Loss-
APLF-
-
-
-
1Loss-
APLNR-
-
-
-
1Loss-
APLP2-
-
-
-
0Del-
APMAP-
-
-
-
1Loss-
APOA1-
-
-
-
0Del-
APOA4p.E207K
Missense
SNP
1.000
0Del-
APOA5-
-
-
-
0Del-
APOB-
-
-
-
1Loss-
APOBEC3A-
-
-
-
3Gain-
APOBEC3B-
-
-
-
3Gain-
APOBEC3C-
-
-
-
3Gain-
APOBEC3D-
-
-
-
3Gain-
APOBEC3F-
-
-
-
3Gain-
APOBEC3G-
-
-
-
3Gain-
APOBEC3Hp.E70K
Missense
SNP
1.000
3Gain-
APOBRp.E934K
Missense
SNP
0.699
2--
APOC3-
-
-
-
0Del-
APOF-
-
-
-
1Loss-
APOL1-
-
-
-
3Gain-
APOL2-
-
-
-
3Gain-
APOL3-
-
-
-
3Gain-
APOL4-
-
-
-
3Gain-
APOL5-
-
-
-
3Gain-
APOL6-
-
-
-
3Gain-
APOPT1-
-
-
-
1Loss-
APPL2-
-
-
-
0Del-
AQP1-
-
-
-
3Gain-
AQP11-
-
-
-
1Loss-
AQP2-
-
-
-
1Loss-
AQP5-
-
-
-
1Loss-
AQP6-
-
-
-
1Loss-
ARAP1-
-
-
-
1Loss-
ARAP2-
-
-
-
1Loss-
ARCN1-
-
-
-
0Del-
AREG-
-
-
-
1Loss-
AREL1-
-
-
-
1Loss-
ARF3-
-
-
-
1Loss-
ARF6-
-
-
-
1Loss-
ARFGAP1-
-
-
-
3Gain-
ARFGAP2-
-
-
-
1Loss-
ARFGAP3-
-
-
-
3Gain-
ARFGEF2-
-
-
-
3Gain-
ARFIP1-
-
-
-
1Loss-
ARFIP2-
-
-
-
1Loss-
ARFRP1-
-
-
-
3Gain-
ARG2-
-
-
-
1Loss-
ARHGAP1-
-
-
-
1Loss-
ARHGAP10-
-
-
-
1Loss-
ARHGAP11B-
-
-
-
1Loss-
ARHGAP12p.P257S
Missense
SNP
0.519
1Loss-
ARHGAP19-
-
-
-
1Loss-
ARHGAP19-SLIT1-
-
-
-
1Loss-
ARHGAP20-
-
-
-
0Del-
ARHGAP21p.P1231S
Missense
SNP
0.485
1Loss-
ARHGAP22-
-
-
-
1Loss-
ARHGAP24-
-
-
-
1Loss-
ARHGAP25-
-
-
-
1Loss-
ARHGAP29-
-
-
-
3Gain-
ARHGAP32-
-
-
-
0Del-
ARHGAP33p.R282S
Missense
SNP
0.351
2--
ARHGAP40-
-
-
-
3Gain-
ARHGAP42-
-
-
-
0Del-
ARHGAP44-
-
-
-
1Loss-
ARHGAP45-
-
-
-
1Loss-
ARHGAP5-
-
-
-
1Loss-
ARHGAP8-
-
-
-
3Gain-
ARHGAP9-
-
-
-
1Loss-
ARHGEF10-
-
-
-
1Loss-
ARHGEF10L-
-
-
-
3Gain-
ARHGEF11p.P247L
Missense
SNP
0.379
2--
ARHGEF12-
-
-
-
0Del-
ARHGEF15-
-
-
-
1Loss-
ARHGEF16-
-
-
-
3Gain-
ARHGEF17-
-
-
-
1Loss-
ARHGEF19-
-
-
-
3Gain-
ARHGEF25-
-
-
-
1Loss-
ARHGEF33-
-
-
-
1Loss-
ARHGEF38-
-
-
-
1Loss-
ARHGEF40-
-
-
-
1Loss-
ARID1A-
-
-
-
3Gain-
ARID2-
-
-
-
1Loss-
ARID3A-
-
-
-
1Loss-
ARID4A-
-
-
-
1Loss-
ARID5B-
-
-
-
1Loss-
ARL1-
-
-
-
3Gain-
ARL14EP-
-
-
-
1Loss-
ARL2-
-
-
-
1Loss-
ARL2-SNX15-
-
-
-
1Loss-
ARL3-
-
-
-
1Loss-
ARL4A-
-
-
-
3Gain-
ARL5B-
-
-
-
1Loss-
ARL8B-
-
-
-
1Loss-
ARL9-
-
-
-
1Loss-
ARMC3p.G680R
Missense
SNP
0.497
1Loss-
ARMC4-
-
-
-
1Loss-
ARMH1-
-
-
-
3Gain-
ARMH3-
-
-
-
1Loss-
ARMH4-
-
-
-
1Loss-
ARMS2-
-
-
-
1Loss-
ARNTLp.R166*
Nonsense
SNP
0.413
1Loss-
ARPC4-
-
-
-
1Loss-
ARPC4-TTLL3-
-
-
-
1Loss-
ARRB1-
-
-
-
1Loss-
ARRB2-
-
-
-
1Loss-
ARRDC5-
-
-
-
1Loss-
ARSA-
-
-
-
3Gain-
ARSJ-
-
-
-
1Loss-
ART1-
-
-
-
1Loss-
ART3-
-
-
-
1Loss-
ART5-
-
-
-
1Loss-
ARTN-
-
-
-
3Gain-
AS3MT-
-
-
-
1Loss-
ASAH1-
-
-
-
1Loss-
ASAH2-
-
-
-
1Loss-
ASAH2B-
-
-
-
1Loss-
ASAP2-
-
-
-
1Loss-
ASAP3-
-
-
-
3Gain-
ASB13-
-
-
-
1Loss-
ASB17-
-
-
-
3Gain-
ASB2-
-
-
-
1Loss-
ASB3-
-
-
-
1Loss-
ASB5-
-
-
-
1Loss-
ASB8-
-
-
-
1Loss-
ASCC1-
-
-
-
1Loss-
ASCL1-
-
-
-
3Gain-
ASCL2-
-
-
-
1Loss-
ASCL3-
-
-
-
1Loss-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH2L-
-
-
-
1Loss-
ASIC1-
-
-
-
1Loss-
ASIC2-
-
-
-
1Loss-
ASIC5-
-
-
-
1Loss-
ASIP-
-
-
-
3Gain-
ASPA-
-
-
-
1Loss-
ASPG-
-
-
-
1Loss-
ASPRV1-
-
-
-
1Loss-
ASRGL1-
-
-
-
1Loss-
ASTN1p.E717K
Missense
SNP
0.685
2--
ASXL1-
-
-
-
3Gain-
ASXL2-
-
-
-
1Loss-
ASZ1p.R7Q
Missense
SNP
0.351
2--
ATAD1-
-
-
-
1Loss-
ATAD2B-
-
-
-
1Loss-
ATAD3A-
-
-
-
3Gain-
ATAD3B-
-
-
-
3Gain-
ATAD3C-
-
-
-
3Gain-
ATAD5-
-
-
-
1Loss-
ATCAY-
-
-
-
1Loss-
ATE1-
-
-
-
1Loss-
ATF1-
-
-
-
1Loss-
ATF4-
-
-
-
3Gain-
ATF6p.Q172*
Nonsense
SNP
0.614
2--
ATF7-
-
-
-
1Loss-
ATG101-
-
-
-
1Loss-
ATG13-
-
-
-
1Loss-
ATG14-
-
-
-
1Loss-
ATG16L2-
-
-
-
1Loss-
ATG2A-
-
-
-
1Loss-
ATG2Bp.S983F
Missense
SNP
1.000
1Loss-
ATG4C-
-
-
-
3Gain-
ATG7-
-
-
-
1Loss-
ATL1-
-
-
-
1Loss-
ATL2-
-
-
-
1Loss-
ATL3-
-
-
-
1Loss-
ATM-
-
-
-
0Del-
ATOH1-
-
-
-
1Loss-
ATOH7-
-
-
-
1Loss-
ATOH8-
-
-
-
1Loss-
ATP10D-
-
-
-
1Loss-
ATP13A2-
-
-
-
3Gain-
ATP1A1-
-
-
-
3Gain-
ATP1B2-
-
-
-
1Loss-
ATP23-
-
-
-
1Loss-
ATP2A3-
-
-
-
1Loss-
ATP2B1-
-
-
-
1Loss-
ATP2B2-
-
-
-
1Loss-
ATP4Ap.D54N
Missense
SNP
0.341
2--
ATP5F1B-
-
-
-
1Loss-
ATP5F1C-
-
-
-
1Loss-
ATP5F1D-
-
-
-
1Loss-
ATP5F1E-
-
-
-
3Gain-
ATP5IF1-
-
-
-
3Gain-
ATP5MC2-
-
-
-
1Loss-
ATP5MD-
-
-
-
1Loss-
ATP5ME-
-
-
-
1Loss-
ATP5MG-
-
-
-
0Del-
ATP5MGL-
-
-
-
3Gain-
ATP5MPL-
-
-
-
1Loss-
ATP5PB-
-
-
-
3Gain-
ATP5S-
-
-
-
1Loss-
ATP6V0B-
-
-
-
3Gain-
ATP6V1B1-
-
-
-
1Loss-
ATP6V1B2-
-
-
-
1Loss-
ATP6V1C2-
-
-
-
1Loss-
ATP6V1D-
-
-
-
1Loss-
ATP6V1E2-
-
-
-
1Loss-
ATP8A1-
-
-
-
1Loss-
ATP8B3-
-
-
-
1Loss-
ATP9A-
-
-
-
3Gain-
ATPAF1-
-
-
-
3Gain-
ATPAF2-
-
-
-
1Loss-
ATRAID-
-
-
-
1Loss-
ATRN-
-
-
-
1Loss-
ATRNL1-
-
-
-
1Loss-
ATXN10p.R133C
Missense
SNP
0.995
3Gain-
ATXN3-
-
-
-
1Loss-
ATXN7L1p.P400S
Missense
SNP
0.613
2--
ATXN7L2-
-
-
-
3Gain-
ATXN7L3B-
-
-
-
1Loss-
AUNIP-
-
-
-
3Gain-
AUP1-
-
-
-
1Loss-
AURKA-
-
-
-
3Gain-
AURKAIP1-
-
-
-
3Gain-
AURKB-
-
-
-
1Loss-
AVIL-
-
-
-
1Loss-
AVL9-
-
-
-
3Gain-
AVP-
-
-
-
1Loss-
AVPI1-
-
-
-
1Loss-
AVPR1A-
-
-
-
1Loss-
AZI2-
-
-
-
1Loss-
AZIN2-
-
-
-
3Gain-
AZU1-
-
-
-
1Loss-
B3GALT6-
-
-
-
3Gain-
B3GAT1-
-
-
-
0Del-
B3GAT3-
-
-
-
1Loss-
B3GNT2-
-
-
-
3Gain-
B3GNT6-
-
-
-
1Loss-
B3GNT9p.A282T
Missense
SNP
0.371
2--
B4GALNT1-
-
-
-
1Loss-
B4GALNT4-
-
-
-
1Loss-
B4GALT2-
-
-
-
3Gain-
B4GALT5-
-
-
-
3Gain-
B4GAT1-
-
-
-
1Loss-
B9D1-
-
-
-
1Loss-
BABAM2-
-
-
-
1Loss-
BACE1-
-
-
-
0Del-
BAD-
-
-
-
1Loss-
BAG3-
-
-
-
1Loss-
BAG4-
-
-
-
1Loss-
BAG5-
-
-
-
1Loss-
BAIAP2L2-
-
-
-
3Gain-
BAMBI-
-
-
-
1Loss-
BANF1-
-
-
-
1Loss-
BANF2-
-
-
-
1Loss-
BANK1-
-
-
-
1Loss-
BARHL2-
-
-
-
3Gain-
BARX2-
-
-
-
0Del-
BASP1-
-
-
-
1Loss-
BATF-
-
-
-
1Loss-
BATF2-
-
-
-
1Loss-
BAZ1A-
-
-
-
1Loss-
BAZ2A-
-
-
-
1Loss-
BBIP1-
-
-
-
1Loss-
BBOF1-
-
-
-
1Loss-
BBOX1-
-
-
-
1Loss-
BBS1-
-
-
-
1Loss-
BBS10-
-
-
-
1Loss-
BBS12-
-
-
-
1Loss-
BBS7-
-
-
-
1Loss-
BBS9-
-
-
-
3Gain-
BCAR3-
-
-
-
3Gain-
BCAS1-
-
-
-
3Gain-
BCAS2-
-
-
-
3Gain-
BCAS4-
-
-
-
3Gain-
BCCIP-
-
-
-
1Loss-
BCDIN3D-
-
-
-
1Loss-
BCL10-
-
-
-
3Gain-
BCL11A-
-
-
-
1Loss-
BCL11B-
-
-
-
1Loss-
BCL2L1-
-
-
-
3Gain-
BCL2L15-
-
-
-
3Gain-
BCL2L2-
-
-
-
1Loss-
BCL2L2-PABPN1-
-
-
-
1Loss-
BCL6B-
-
-
-
1Loss-
BCL9L-
-
-
-
0Del-
BCO2-
-
-
-
0Del-
BDH2-
-
-
-
1Loss-
BDKRB1-
-
-
-
1Loss-
BDKRB2-
-
-
-
1Loss-
BDNF-
-
-
-
1Loss-
BEGAIN-
-
-
-
1Loss-
BEND4-
-
-
-
1Loss-
BEND5-
-
-
-
3Gain-
BEND7-
-
-
-
1Loss-
BEST1-
-
-
-
1Loss-
BEST3-
-
-
-
1Loss-
BEST4-
-
-
-
3Gain-
BET1L-
-
-
-
1Loss-
BFSP1-
-
-
-
1Loss-
BHLHA9-
-
-
-
1Loss-
BHLHE23-
-
-
-
3Gain-
BHLHE40-
-
-
-
1Loss-
BICC1-
-
-
-
1Loss-
BICD1-
-
-
-
2-RNA5-8SN2--BICD1
BIK-
-
-
-
3Gain-
BIN2-
-
-
-
1Loss-
BIN3-
-
-
-
1Loss-
BIRC2-
-
-
-
0Del-
BIRC3-
-
-
-
0Del-
BIRC6-
-
-
-
1Loss-
BIRC7-
-
-
-
3Gain-
BLCAP-
-
-
-
3Gain-
BLID-
-
-
-
0Del-
BLK-
-
-
-
1Loss-
BLMH-
-
-
-
1Loss-
BLNK-
-
-
-
1Loss-
BLOC1S1-
-
-
-
1Loss-
BLOC1S1-RDH5-
-
-
-
1Loss-
BLOC1S2-
-
-
-
1Loss-
BLOC1S4-
-
-
-
1Loss-
BLVRA-
-
-
-
3Gain-
BMI1-
-
-
-
1Loss-
BMP1-
-
-
-
1Loss-
BMP10-
-
-
-
1Loss-
BMP2-
-
-
-
1Loss-
BMP2K-
-
-
-
1Loss-
BMP3-
-
-
-
1Loss-
BMP4-
-
-
-
1Loss-
BMP7-
-
-
-
3Gain-
BMP8A-
-
-
-
3Gain-
BMP8B-
-
-
-
3Gain-
BMPER-
-
-
-
3Gain-
BMPR1A-
-
-
-
1Loss-
BMPR1B-
-
-
-
1Loss-
BMS1-
-
-
-
1Loss-
BNIP3-
-
-
-
1Loss-
BNIP3L-
-
-
-
1Loss-
BOD1L1-
-
-
-
1Loss-
BOLA3-
-
-
-
1Loss-
BORCS6-
-
-
-
1Loss-
BORCS7-
-
-
-
1Loss-
BORCS7-ASMT-
-
-
-
1Loss-
BPIp.P66L
Missense
SNP
0.476
3Gain-
BPIFA1-
-
-
-
3Gain-
BPIFA2-
-
-
-
3Gain-
BPIFA3-
-
-
-
3Gain-
BPIFB1-
-
-
-
3Gain-
BPIFB2-
-
-
-
3Gain-
BPIFB3-
-
-
-
3Gain-
BPIFB4-
-
-
-
3Gain-
BPIFB6-
-
-
-
3Gain-
BPIFC-
-
-
-
3Gain-
BRAT1-
-
-
-
3Gain-
BRD1-
-
-
-
3Gain-
BRD9-
-
-
-
1Loss-
BRDT-
-
-
-
3Gain-
BRF1-
-
-
-
1Loss-
BRF2-
-
-
-
1Loss-
BRINP2p.S48F
Missense
SNP
0.341
2--
BRIX1-
-
-
-
1Loss-
BRK1-
-
-
-
1Loss-
BRMS1-
-
-
-
1Loss-
BRMS1L-
-
-
-
1Loss-
BRPF1-
-
-
-
1Loss-
BRSK1-
-
-
-
3Gain-
BRSK2-
-
-
-
1Loss-
BSCL2-
-
-
-
1Loss-
BSDC1-
-
-
-
3Gain-
BSG-
-
-
-
1Loss-
BSNp.P3836L
Missense
SNP
0.349
2--
BSND-
-
-
-
3Gain-
BST1-
-
-
-
1Loss-
BSX-
-
-
-
0Del-
BTAF1-
-
-
-
1Loss-
BTBD10-
-
-
-
1Loss-
BTBD11-
-
-
-
0Del-
BTBD16-
-
-
-
1Loss-
BTBD18-
-
-
-
1Loss-
BTBD19-
-
-
-
3Gain-
BTBD2-
-
-
-
1Loss-
BTBD3-
-
-
-
1Loss-
BTBD6-
-
-
-
1Loss-
BTBD7-
-
-
-
1Loss-
BTBD8-
-
-
-
3Gain-
BTC-
-
-
-
1Loss-
BTD-
-
-
-
1Loss-
BTF3L4-
-
-
-
3Gain-
BTG1-
-
-
-
1Loss-
BTG4-
-
-
-
0Del-
BTRC-
-
-
-
1Loss-
BUB3-
-
-
-
1Loss-
BUD13-
-
-
-
0Del-
BZW2-
-
-
-
3Gain-
C10orf105-
-
-
-
1Loss-
C10orf113-
-
-
-
1Loss-
C10orf120-
-
-
-
1Loss-
C10orf53-
-
-
-
1Loss-
C10orf55-
-
-
-
1Loss-
C10orf62-
-
-
-
1Loss-
C10orf67-
-
-
-
1Loss-
C10orf71-
-
-
-
1Loss-
C10orf82-
-
-
-
1Loss-
C10orf88-
-
-
-
1Loss-
C10orf90-
-
-
-
1Loss-
C10orf95-
-
-
-
1Loss-
C10orf99-
-
-
-
1Loss-
C11orf1-
-
-
-
0Del-
C11orf16-
-
-
-
1Loss-
C11orf21-
-
-
-
1Loss-
C11orf24-
-
-
-
1Loss-
C11orf40-
-
-
-
1Loss-
C11orf42-
-
-
-
1Loss-
C11orf45-
-
-
-
0Del-
C11orf49-
-
-
-
1Loss-
C11orf52-
-
-
-
0Del-
C11orf53-
-
-
-
0Del-
C11orf54-
-
-
-
1Loss-
C11orf58-
-
-
-
1Loss-
C11orf65-
-
-
-
0Del-
C11orf68-
-
-
-
1Loss-
C11orf71-
-
-
-
0Del-
C11orf74-
-
-
-
1Loss-
C11orf80-
-
-
-
1Loss-
C11orf86-
-
-
-
1Loss-
C11orf87-
-
-
-
0Del-
C11orf88-
-
-
-
0Del-
C11orf91-
-
-
-
1Loss-
C11orf94-
-
-
-
1Loss-
C11orf95-
-
-
-
1Loss-
C11orf96-
-
-
-
1Loss-
C11orf97-
-
-
-
1Loss-
C11orf98-
-
-
-
1Loss-
C12orf10-
-
-
-
1Loss-
C12orf29-
-
-
-
1Loss-
C12orf40-
-
-
-
1Loss-
C12orf42-
-
-
-
3Gain-
C12orf45-
-
-
-
0Del-
C12orf50-
-
-
-
1Loss-
C12orf54-
-
-
-
1Loss-
C12orf56-
-
-
-
1Loss-
C12orf66-
-
-
-
1Loss-
C12orf75-
-
-
-
0Del-
C12orf76p.P79S
Missense
SNP
1.000
0Del-
C14orf119-
-
-
-
1Loss-
C14orf132-
-
-
-
1Loss-
C14orf177-
-
-
-
1Loss-
C14orf178-
-
-
-
1Loss-
C14orf180-
-
-
-
1Loss-
C14orf28-
-
-
-
1Loss-
C14orf39-
-
-
-
1Loss-
C14orf93-
-
-
-
1Loss-
C15orf39p.P460R
Missense
SNP
0.661
2--
C15orf53p.G102E
Missense
SNP
0.718
2--
C16orf70p.Q33*
Nonsense
SNP
0.714
2--
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
1Loss-
C17orf49-
-
-
-
1Loss-
C17orf50-
-
-
-
1Loss-
C17orf51-
-
-
-
1Loss-
C17orf74p.R122H
Missense
SNP
1.000
NDND-
C17orf75-
-
-
-
1Loss-
C17orf97-
-
-
-
1Loss-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C1D-
-
-
-
1Loss-
C1GALT1-
-
-
-
3Gain-
C1GALT1C1L-
-
-
-
1Loss-
C1orf109-
-
-
-
3Gain-
C1orf122-
-
-
-
3Gain-
C1orf123-
-
-
-
3Gain-
C1orf127-
-
-
-
3Gain-
C1orf141-
-
-
-
3Gain-
C1orf146-
-
-
-
3Gain-
C1orf158-
-
-
-
3Gain-
C1orf159-
-
-
-
3Gain-
C1orf162-
-
-
-
3Gain-
C1orf167-
-
-
-
3Gain-
C1orf174-
-
-
-
3Gain-
C1orf185-
-
-
-
3Gain-
C1orf194-
-
-
-
3Gain-
C1orf210-
-
-
-
3Gain-
C1orf216-
-
-
-
3Gain-
C1orf50-
-
-
-
3Gain-
C1orf52-
-
-
-
3Gain-
C1orf87-
-
-
-
3Gain-
C1orf94-
-
-
-
3Gain-
C1QA-
-
-
-
3Gain-
C1QB-
-
-
-
3Gain-
C1QBP-
-
-
-
1Loss-
C1QC-
-
-
-
3Gain-
C1QL3-
-
-
-
1Loss-
C1QL4-
-
-
-
1Loss-
C1QTNF12-
-
-
-
3Gain-
C1QTNF3-
-
-
-
1Loss-
C1QTNF3-AMACR-
-
-
-
1Loss-
C1QTNF4-
-
-
-
1Loss-
C1QTNF5-
-
-
-
0Del-
C1QTNF6-
-
-
-
3Gain-
C1QTNF7-
-
-
-
1Loss-
C1QTNF9B-
-
-
-
1Loss-
C1Sp.D445N
Missense
SNP
0.564
2--
C20orf141-
-
-
-
1Loss-
C20orf144-
-
-
-
3Gain-
C20orf173-
-
-
-
3Gain-
C20orf194-
-
-
-
1Loss-
C20orf202-
-
-
-
1Loss-
C20orf203-
-
-
-
3Gain-
C20orf204-
-
-
-
3Gain-
C20orf27-
-
-
-
1Loss-
C20orf85p.E50K
Missense
SNP
0.478
3Gain-
C20orf96-
-
-
-
1Loss-
C22orf23-
-
-
-
3Gain-
C22orf42-
-
-
-
3Gain-
C22orf46-
-
-
-
3Gain-
C2CD2L-
-
-
-
0Del-
C2CD3-
-
-
-
1Loss-
C2CD4C-
-
-
-
1Loss-
C2orf16-
-
-
-
1Loss-
C2orf42-
-
-
-
1Loss-
C2orf50-
-
-
-
1Loss-
C2orf68-
-
-
-
1Loss-
C2orf70-
-
-
-
1Loss-
C2orf73-
-
-
-
1Loss-
C2orf74-
-
-
-
1Loss-
C2orf78-
-
-
-
1Loss-
C2orf81-
-
-
-
1Loss-
C2orf91-
-
-
-
1Loss-
C3p.D1362N
Missense
SNP
0.336
2--
C3orf20-
-
-
-
1Loss-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C4orf17-
-
-
-
1Loss-
C4orf19-
-
-
-
1Loss-
C4orf3-
-
-
-
1Loss-
C4orf33-
-
-
-
1Loss-
C4orf36-
-
-
-
1Loss-
C4orf45-
-
-
-
1Loss-
C4orf46-
-
-
-
1Loss-
C4orf47-
-
-
-
1Loss-
C4orf48-
-
-
-
1Loss-
C4orf50-
-
-
-
1Loss-
C4orf51-
-
-
-
1Loss-
C4orf54-
-
-
-
1Loss-
C5orf22-
-
-
-
1Loss-
C5orf34-
-
-
-
1Loss-
C5orf38-
-
-
-
1Loss-
C5orf49-
-
-
-
1Loss-
C5orf51-
-
-
-
1Loss-
C6-
-
-
-
1Loss-
C6orf203p.P84S
Missense
SNP
0.452
2--
C7-
-
-
-
1Loss-
C7orf25-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf50-
-
-
-
3Gain-
C7orf57-
-
-
-
3Gain-
C8Ap.G396E
Missense
SNP
0.531
3Gain-
C8B-
-
-
-
3Gain-
C8orf48-
-
-
-
1Loss-
C8orf58-
-
-
-
1Loss-
C8orf74-
-
-
-
1Loss-
C8orf86-
-
-
-
1Loss-
C9-
-
-
-
1Loss-
CA10p.G41E
Missense
SNP
0.649
2--
CA6-
-
-
-
3Gain-
CA8p.R251*
Nonsense
SNP
0.681
2--
CABCOCO1-
-
-
-
1Loss-
CABLES2-
-
-
-
3Gain-
CABP2-
-
-
-
1Loss-
CABP4-
-
-
-
1Loss-
CABS1-
-
-
-
1Loss-
CACHD1-
-
-
-
3Gain-
CACNA1Bp.R189Q
Missense
SNP
0.659
2--
CACNA1Hp.P500L
p.W774*
Missense
Nonsense
SNP
SNP
0.417
0.695
2--
CACNA1I-
-
-
-
3Gain-
CACNB2p.D238N
Missense
SNP
0.438
1Loss-
CACNB3-
-
-
-
1Loss-
CACNG2-
-
-
-
3Gain-
CACTIN-
-
-
-
1Loss-
CACUL1-
-
-
-
1Loss-
CAD-
-
-
-
1Loss-
CADM1-
-
-
-
0Del-
CADPS2p.D471N
Missense
SNP
0.647
2--
CALB2p.E131K
Missense
SNP
0.618
2--
CALCA-
-
-
-
1Loss-
CALCB-
-
-
-
1Loss-
CALCOCO1-
-
-
-
1Loss-
CALHM1-
-
-
-
1Loss-
CALHM2-
-
-
-
1Loss-
CALHM3-
-
-
-
1Loss-
CALM1-
-
-
-
1Loss-
CALM2-
-
-
-
1Loss-
CALML3-
-
-
-
1Loss-
CALML5-
-
-
-
1Loss-
CALML6-
-
-
-
3Gain-
CALY-
-
-
-
1Loss-
CAMK1-
-
-
-
1Loss-
CAMK1D-
-
-
-
1Loss-
CAMK2B-
-
-
-
3Gain-
CAMK2D-
-
-
-
1Loss-
CAMK2G-
-
-
-
1Loss-
CAMK2N1-
-
-
-
3Gain-
CAMKK1-
-
-
-
1Loss-
CAMKMT-
-
-
-
1Loss-
CAMTA1-
-
-
-
3Gain-
CAMTA2-
-
-
-
1Loss-
CAND1-
-
-
-
1Loss-
CAND2-
-
-
-
1Loss-
CAP1-
-
-
-
3Gain-
CAPG-
-
-
-
1Loss-
CAPN1-
-
-
-
1Loss-
CAPN12p.S587F
Missense
SNP
0.383
2--
CAPN13-
-
-
-
1Loss-
CAPN14-
-
-
-
1Loss-
CAPN5-
-
-
-
1Loss-
CAPN7-
-
-
-
1Loss-
CAPRIN1-
-
-
-
1Loss-
CAPS2-
-
-
-
1Loss-
CAPSL-
-
-
-
1Loss-
CAPZA1-
-
-
-
3Gain-
CAPZB-
-
-
-
3Gain-
CARD10-
-
-
-
3Gain-
CARD11-
-
-
-
3Gain-
CARD16-
-
-
-
0Del-
CARD17-
-
-
-
0Del-
CARD18-
-
-
-
0Del-
CARD6-
-
-
-
1Loss-
CARMIL3-
-
-
-
1Loss-
CARNS1-
-
-
-
1Loss-
CARS-
-
-
-
1Loss-
CASC10-
-
-
-
1Loss-
CASP1-
-
-
-
0Del-
CASP12-
-
-
-
0Del-
CASP3-
-
-
-
1Loss-
CASP4-
-
-
-
0Del-
CASP5-
-
-
-
0Del-
CASP6-
-
-
-
1Loss-
CASP7-
-
-
-
1Loss-
CASP9-
-
-
-
3Gain-
CASQ2-
-
-
-
3Gain-
CASRp.E379K
p.G917E
Missense
Missense
SNP
SNP
0.627
0.674
2--
CASS4-
-
-
-
3Gain-
CASTOR1-
-
-
-
3Gain-
CASZ1-
-
-
-
3Gain-
CAT-
-
-
-
1Loss-
CATSPER1-
-
-
-
1Loss-
CATSPER4-
-
-
-
3Gain-
CATSPERB-
-
-
-
1Loss-
CATSPERZ-
-
-
-
1Loss-
CAV3-
-
-
-
1Loss-
CAVIN3-
-
-
-
1Loss-
CBARP-
-
-
-
1Loss-
CBFA2T2-
-
-
-
3Gain-
CBL-
-
-
-
0Del-
CBLN3-
-
-
-
1Loss-
CBLN4-
-
-
-
3Gain-
CBR4-
-
-
-
1Loss-
CBX3-
-
-
-
3Gain-
CBX5-
-
-
-
1Loss-
CBX6-
-
-
-
3Gain-
CBX7-
-
-
-
3Gain-
CBY1-
-
-
-
3Gain-
CC2D1B-
-
-
-
3Gain-
CC2D2A-
-
-
-
1Loss-
CC2D2B-
-
-
-
1Loss-
CCAR1-
-
-
-
1Loss-
CCAR2-
-
-
-
1Loss-
CCDC106-
-
-
-
3Gain-
CCDC110-
-
-
-
1Loss-
CCDC121-
-
-
-
1Loss-
CCDC126-
-
-
-
3Gain-
CCDC127-
-
-
-
1Loss-
CCDC134-
-
-
-
3Gain-
CCDC142-
-
-
-
1Loss-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
1Loss-
CCDC149-
-
-
-
1Loss-
CCDC15-
-
-
-
0Del-
CCDC152-
-
-
-
1Loss-
CCDC153-
-
-
-
0Del-
CCDC157-
-
-
-
3Gain-
CCDC158p.R35C
Missense
SNP
1.000
1Loss-
CCDC163-
-
-
-
3Gain-
CCDC17-
-
-
-
3Gain-
CCDC172-
-
-
-
1Loss-
CCDC174-
-
-
-
1Loss-
CCDC175-
-
-
-
1Loss-
CCDC179-
-
-
-
1Loss-
CCDC18-
-
-
-
3Gain-
CCDC184-
-
-
-
1Loss-
CCDC186-
-
-
-
1Loss-
CCDC197-
-
-
-
1Loss-
CCDC198-
-
-
-
1Loss-
CCDC24-
-
-
-
3Gain-
CCDC25-
-
-
-
1Loss-
CCDC27-
-
-
-
3Gain-
CCDC28Ap.R7K
Missense
SNP
0.695
2--
CCDC28B-
-
-
-
3Gain-
CCDC3-
-
-
-
1Loss-
CCDC30-
-
-
-
3Gain-
CCDC34-
-
-
-
1Loss-
CCDC38-
-
-
-
1Loss-
CCDC42-
-
-
-
1Loss-
CCDC59-
-
-
-
1Loss-
CCDC6-
-
-
-
1Loss-
CCDC65-
-
-
-
1Loss-
CCDC7-
-
-
-
1Loss-
CCDC73-
-
-
-
1Loss-
CCDC81-
-
-
-
1Loss-
CCDC82-
-
-
-
1Loss-
CCDC83-
-
-
-
1Loss-
CCDC84-
-
-
-
0Del-
CCDC85A-
-
-
-
1Loss-
CCDC85B-
-
-
-
1Loss-
CCDC85C-
-
-
-
1Loss-
CCDC86-
-
-
-
1Loss-
CCDC87-
-
-
-
1Loss-
CCDC88A-
-
-
-
1Loss-
CCDC88B-
-
-
-
1Loss-
CCDC88C-
-
-
-
1Loss-
CCDC89-
-
-
-
1Loss-
CCDC90B-
-
-
-
1Loss-
CCDC96-
-
-
-
1Loss-
CCER1-
-
-
-
1Loss-
CCKAR-
-
-
-
1Loss-
CCKBRp.P298S
Missense
SNP
0.413
1Loss-
CCL1-
-
-
-
1Loss-
CCL11-
-
-
-
1Loss-
CCL13-
-
-
-
1Loss-
CCL14-
-
-
-
1Loss-
CCL15-
-
-
-
1Loss-
CCL15-CCL14-
-
-
-
1Loss-
CCL16-
-
-
-
1Loss-
CCL18-
-
-
-
1Loss-
CCL2-
-
-
-
1Loss-
CCL23-
-
-
-
1Loss-
CCL28-
-
-
-
1Loss-
CCL3-
-
-
-
1Loss-
CCL3L1-
-
-
-
1Loss-
CCL4-
-
-
-
1Loss-
CCL4L2-
-
-
-
1Loss-
CCL5-
-
-
-
1Loss-
CCL7-
-
-
-
1Loss-
CCL8-
-
-
-
1Loss-
CCM2-
-
-
-
3Gain-
CCM2L-
-
-
-
3Gain-
CCNA2-
-
-
-
1Loss-
CCNB1IP1-
-
-
-
1Loss-
CCND1-
-
-
-
1Loss-
CCNG1-
-
-
-
3Gain-
CCNG2-
-
-
-
1Loss-
CCNI-
-
-
-
1Loss-
CCNJ-
-
-
-
1Loss-
CCNK-
-
-
-
1Loss-
CCNL2-
-
-
-
3Gain-
CCNT1-
-
-
-
1Loss-
CCNY-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCS-
-
-
-
1Loss-
CCSER1-
-
-
-
1Loss-
CCSER2-
-
-
-
1Loss-
CCT2-
-
-
-
1Loss-
CCT4-
-
-
-
6Amp-
CCT5-
-
-
-
1Loss-
CCT6A-
-
-
-
3Gain-
CCT6B-
-
-
-
1Loss-
CCT7-
-
-
-
1Loss-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD101-
-
-
-
3Gain-
CD151-
-
-
-
1Loss-
CD163L1p.E967K
p.G961E
p.G140R
Missense
Missense
Missense
SNP
SNP
SNP
0.325
0.338
0.312
2--
CD164L2-
-
-
-
3Gain-
CD2-
-
-
-
3Gain-
CD207-
-
-
-
1Loss-
CD248-
-
-
-
1Loss-
CD38-
-
-
-
1Loss-
CD3D-
-
-
-
0Del-
CD3E-
-
-
-
0Del-
CD3G-
-
-
-
0Del-
CD40-
-
-
-
3Gain-
CD44-
-
-
-
1Loss-
CD5-
-
-
-
1Loss-
CD52-
-
-
-
3Gain-
CD53-
-
-
-
3Gain-
CD58-
-
-
-
3Gain-
CD59-
-
-
-
1Loss-
CD5Lp.E339K
Missense
SNP
0.564
2--
CD6-
-
-
-
1Loss-
CD63-
-
-
-
1Loss-
CD68-
-
-
-
1Loss-
CD70p.G94E
Missense
SNP
0.364
2--
CD81-
-
-
-
1Loss-
CD82-
-
-
-
1Loss-
CD8A-
-
-
-
1Loss-
CD8B-
-
-
-
1Loss-
CD93-
-
-
-
1Loss-
CDA-
-
-
-
3Gain-
CDC123-
-
-
-
1Loss-
CDC14A-
-
-
-
3Gain-
CDC14C-
-
-
-
3Gain-
CDC20-
-
-
-
3Gain-
CDC25B-
-
-
-
1Loss-
CDC34-
-
-
-
1Loss-
CDC42-
-
-
-
3Gain-
CDC42BPB-
-
-
-
1Loss-
CDC42BPG-
-
-
-
1Loss-
CDC42EP1-
-
-
-
3Gain-
CDC42EP2-
-
-
-
1Loss-
CDC42EP3-
-
-
-
1Loss-
CDC42EP5-
-
-
-
3Gain-
CDC7-
-
-
-
3Gain-
CDCA2-
-
-
-
1Loss-
CDCA4-
-
-
-
1Loss-
CDCA5-
-
-
-
1Loss-
CDCA7L-
-
-
-
3Gain-
CDCA8-
-
-
-
3Gain-
CDCP2p.G103E
Missense
SNP
0.505
3Gain-
CDH10-
-
-
-
1Loss-
CDH12-
-
-
-
1Loss-
CDH18-
-
-
-
1Loss-
CDH22-
-
-
-
3Gain-
CDH23-
-
-
-
1Loss-
CDH24-
-
-
-
1Loss-
CDH26-
-
-
-
3Gain-
CDH4-
-
-
-
3Gain-
CDH6-
-
-
-
1Loss-
CDH8p.P25S
Missense
SNP
0.673
2--
CDH9p.P502A
Missense
SNP
0.400
2--
CDHR1-
-
-
-
1Loss-
CDHR5-
-
-
-
1Loss-
CDK1-
-
-
-
1Loss-
CDK11A-
-
-
-
3Gain-
CDK11B-
-
-
-
3Gain-
CDK13-
-
-
-
3Gain-
CDK17-
-
-
-
1Loss-
CDK2-
-
-
-
1Loss-
CDK2AP2-
-
-
-
1Loss-
CDK4-
-
-
-
1Loss-
CDK5R1-
-
-
-
1Loss-
CDK5RAP1-
-
-
-
3Gain-
CDKL1-
-
-
-
1Loss-
CDKL2-
-
-
-
1Loss-
CDKL4-
-
-
-
1Loss-
CDKN1C-
-
-
-
1Loss-
CDKN2AIP-
-
-
-
1Loss-
CDKN2C-
-
-
-
3Gain-
CDKN3-
-
-
-
1Loss-
CDNF-
-
-
-
1Loss-
CDON-
-
-
-
0Del-
CDPF1-
-
-
-
3Gain-
CDR2Lp.S48F
Missense
SNP
0.640
2--
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT15L2-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDS1-
-
-
-
1Loss-
CDS2-
-
-
-
1Loss-
CEACAM7p.E71K
Missense
SNP
0.659
2--
CEBPB-
-
-
-
3Gain-
CEBPD-
-
-
-
1Loss-
CEBPE-
-
-
-
1Loss-
CEBPZ-
-
-
-
1Loss-
CEBPZOS-
-
-
-
1Loss-
CELA1-
-
-
-
1Loss-
CELA2A-
-
-
-
3Gain-
CELA2B-
-
-
-
3Gain-
CELA3A-
-
-
-
3Gain-
CELA3B-
-
-
-
3Gain-
CELF1-
-
-
-
1Loss-
CELF2-
-
-
-
1Loss-
CELF5-
-
-
-
1Loss-
CELSR1-
-
-
-
3Gain-
CELSR2-
-
-
-
3Gain-
CEND1-
-
-
-
1Loss-
CENPA-
-
-
-
1Loss-
CENPB-
-
-
-
1Loss-
CENPC-
-
-
-
1Loss-
CENPE-
-
-
-
1Loss-
CENPIp.R218C
Missense
SNP
0.981
NDND-
CENPM-
-
-
-
3Gain-
CENPO-
-
-
-
1Loss-
CENPS-
-
-
-
3Gain-
CENPS-CORT-
-
-
-
3Gain-
CENPU-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CEP104-
-
-
-
3Gain-
CEP126-
-
-
-
0Del-
CEP128-
-
-
-
1Loss-
CEP135-
-
-
-
1Loss-
CEP164-
-
-
-
0Del-
CEP170B-
-
-
-
1Loss-
CEP250-
-
-
-
3Gain-
CEP290-
-
-
-
1Loss-
CEP295-
-
-
-
1Loss-
CEP44-
-
-
-
1Loss-
CEP55-
-
-
-
1Loss-
CEP57-
-
-
-
1Loss-
CEP68-
-
-
-
1Loss-
CEP70p.H228Y
Missense
SNP
0.765
2--
CEP72-
-
-
-
1Loss-
CEP83-
-
-
-
1Loss-
CEP85-
-
-
-
3Gain-
CEPT1-
-
-
-
3Gain-
CERK-
-
-
-
3Gain-
CERS5-
-
-
-
1Loss-
CES5Ap.E383K
Missense
SNP
0.705
2--
CFAP299-
-
-
-
1Loss-
CFAP300-
-
-
-
0Del-
CFAP36-
-
-
-
1Loss-
CFAP43-
-
-
-
1Loss-
CFAP46p.E1798K
p.R149C
Missense
Missense
SNP
SNP
0.431
0.516
1Loss-
CFAP47p.W1768*
p.E2875K
Nonsense
Missense
SNP
SNP
1.000
1.000
NDND-
CFAP52-
-
-
-
1Loss-
CFAP54-
-
-
-
1Loss-
CFAP57-
-
-
-
3Gain-
CFAP58-
-
-
-
1Loss-
CFAP61-
-
-
-
1Loss-
CFAP70-
-
-
-
1Loss-
CFAP73-
-
-
-
3Gain-
CFAP74-
-
-
-
3Gain-
CFAP97-
-
-
-
1Loss-
CFAP99-
-
-
-
1Loss-
CFD-
-
-
-
1Loss-
CFI-
-
-
-
1Loss-
CFL1-
-
-
-
1Loss-
CFL2-
-
-
-
1Loss-
CGREF1-
-
-
-
1Loss-
CGRRF1-
-
-
-
1Loss-
CH25H-
-
-
-
1Loss-
CHAC2-
-
-
-
1Loss-
CHADL-
-
-
-
3Gain-
CHAF1A-
-
-
-
1Loss-
CHAT-
-
-
-
1Loss-
CHCHD1-
-
-
-
1Loss-
CHCHD2-
-
-
-
3Gain-
CHCHD4-
-
-
-
1Loss-
CHD3-
-
-
-
1Loss-
CHD5-
-
-
-
3Gain-
CHD6-
-
-
-
3Gain-
CHD8-
-
-
-
1Loss-
CHEK1-
-
-
-
0Del-
CHGA-
-
-
-
1Loss-
CHGB-
-
-
-
1Loss-
CHI3L2-
-
-
-
3Gain-
CHIA-
-
-
-
3Gain-
CHIC2-
-
-
-
1Loss-
CHID1-
-
-
-
1Loss-
CHKA-
-
-
-
1Loss-
CHKB-
-
-
-
3Gain-
CHKB-CPT1B-
-
-
-
3Gain-
CHL1-
-
-
-
1Loss-
CHMP3-
-
-
-
1Loss-
CHMP4A-
-
-
-
1Loss-
CHMP4B-
-
-
-
3Gain-
CHMP7-
-
-
-
1Loss-
CHN2-
-
-
-
3Gain-
CHORDC1-
-
-
-
1Loss-
CHPT1-
-
-
-
3Gain-
CHRDL2-
-
-
-
1Loss-
CHRFAM7A-
-
-
-
1Loss-
CHRM1-
-
-
-
1Loss-
CHRM4-
-
-
-
1Loss-
CHRNA10-
-
-
-
1Loss-
CHRNA2-
-
-
-
1Loss-
CHRNA4-
-
-
-
3Gain-
CHRNA6-
-
-
-
1Loss-
CHRNA9-
-
-
-
1Loss-
CHRNB1-
-
-
-
1Loss-
CHRNB3-
-
-
-
1Loss-
CHRNE-
-
-
-
1Loss-
CHST1-
-
-
-
1Loss-
CHST12-
-
-
-
3Gain-
CHST15p.R46C
Missense
SNP
0.434
1Loss-
CHST3-
-
-
-
1Loss-
CHUK-
-
-
-
1Loss-
CHURC1-
-
-
-
1Loss-
CHURC1-FNTB-
-
-
-
1Loss-
CIB4-
-
-
-
1Loss-
CICp.P36S
Missense
SNP
0.369
2--
CIDEB-
-
-
-
1Loss-
CIDEC-
-
-
-
1Loss-
CINP-
-
-
-
1Loss-
CIPC-
-
-
-
1Loss-
CIRBP-
-
-
-
1Loss-
CISD1-
-
-
-
1Loss-
CISD2-
-
-
-
1Loss-
CITED4-
-
-
-
3Gain-
CKAP4-
-
-
-
0Del-
CKAP5-
-
-
-
1Loss-
CKB-
-
-
-
1Loss-
CKMT2p.R378Q
Missense
SNP
0.490
2--
CLASP2-
-
-
-
1Loss-
CLBA1-
-
-
-
1Loss-
CLCA1-
-
-
-
3Gain-
CLCA2-
-
-
-
3Gain-
CLCA4-
-
-
-
3Gain-
CLCC1-
-
-
-
3Gain-
CLCF1-
-
-
-
1Loss-
CLCN1p.M194I
Missense
SNP
0.316
2--
CLCN3-
-
-
-
1Loss-
CLCN6-
-
-
-
3Gain-
CLCNKA-
-
-
-
3Gain-
CLCNKBp.R19K
Missense
SNP
0.558
3Gain-
CLDN19-
-
-
-
3Gain-
CLDN22-
-
-
-
1Loss-
CLDN23-
-
-
-
1Loss-
CLDN24-
-
-
-
1Loss-
CLDN25-
-
-
-
0Del-
CLDN7-
-
-
-
1Loss-
CLEC10A-
-
-
-
1Loss-
CLEC14A-
-
-
-
1Loss-
CLEC2D-
-
-
-
2-MOXD1--CLEC2D
CLEC3Ap.H98Y
Missense
SNP
0.327
2--
CLEC4F-
-
-
-
1Loss-
CLEC4Mp.E128K
Missense
SNP
0.613
2--
CLGN-
-
-
-
1Loss-
CLHC1-
-
-
-
1Loss-
CLIC4-
-
-
-
3Gain-
CLIP4-
-
-
-
1Loss-
CLLU1OS-
-
-
-
1Loss-
CLMN-
-
-
-
1Loss-
CLMP-
-
-
-
0Del-
CLN8-
-
-
-
1Loss-
CLNK-
-
-
-
1Loss-
CLNS1A-
-
-
-
1Loss-
CLOCK-
-
-
-
1Loss-
CLP1-
-
-
-
1Loss-
CLPB-
-
-
-
1Loss-
CLPTM1L-
-
-
-
1Loss-
CLRN2-
-
-
-
1Loss-
CLRN3-
-
-
-
1Loss-
CLSPN-
-
-
-
3Gain-
CLSTN1-
-
-
-
3Gain-
CLU-
-
-
-
1Loss-
CLUH-
-
-
-
1Loss-
CMA1-
-
-
-
1Loss-
CMBL-
-
-
-
1Loss-
CMC1-
-
-
-
1Loss-
CMPK1-
-
-
-
3Gain-
CMPK2-
-
-
-
1Loss-
CMTM5-
-
-
-
1Loss-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CNBD2-
-
-
-
3Gain-
CNGA1-
-
-
-
1Loss-
CNGA4-
-
-
-
1Loss-
CNIH1-
-
-
-
1Loss-
CNIH2-
-
-
-
1Loss-
CNKSR1-
-
-
-
3Gain-
CNN2-
-
-
-
1Loss-
CNN3-
-
-
-
3Gain-
CNNM1-
-
-
-
1Loss-
CNNM2-
-
-
-
1Loss-
CNOT10-
-
-
-
1Loss-
CNOT2-
-
-
-
1Loss-
CNOT6L-
-
-
-
1Loss-
CNOT7-
-
-
-
1Loss-
CNPY2-
-
-
-
1Loss-
CNR2-
-
-
-
3Gain-
CNRIP1-
-
-
-
1Loss-
CNTF-
-
-
-
1Loss-
CNTN1-
-
-
-
1Loss-
CNTN4-
-
-
-
1Loss-
CNTN5-
-
-
-
1Loss-
CNTN6-
-
-
-
1Loss-
CNTNAP2-
-
-
-
3Gain-
CNTROB-
-
-
-
1Loss-
COA1-
-
-
-
3Gain-
COA4-
-
-
-
1Loss-
COA7-
-
-
-
3Gain-
COBL-
-
-
-
3Gain-
COCH-
-
-
-
1Loss-
COL11A1-
-
-
-
3Gain-
COL11A2p.P1186S
Missense
SNP
0.682
2--
COL13A1p.D375N
Missense
SNP
0.675
1Loss-
COL16A1-
-
-
-
3Gain-
COL17A1p.R145*
Nonsense
SNP
0.464
1Loss-
COL20A1-
-
-
-
3Gain-
COL22A1p.G741E
Missense
SNP
0.322
2--
COL24A1-
-
-
-
3Gain-
COL25A1p.P502S
Missense
SNP
1.000
1Loss-
COL28A1-
-
-
-
3Gain-
COL2A1-
-
-
-
1Loss-
COL3A1p.P853S
p.D1348N
Missense
Missense
SNP
SNP
0.565
0.315
2--
COL4A3p.G1083E
Missense
SNP
0.479
2--
COL4A4p.G1187E
p.P115S
Missense
Missense
SNP
SNP
0.557
0.286
2--
COL5A1p.E308K
Missense
SNP
0.330
2--
COL6A3p.E1804K
Missense
SNP
0.655
2--
COL6A5p.G1591E
Missense
SNP
0.252
2--
COL8A2-
-
-
-
3Gain-
COL9A2-
-
-
-
3Gain-
COL9A3-
-
-
-
3Gain-
COLCA2-
-
-
-
0Del-
COLEC11-
-
-
-
1Loss-
COLQ-
-
-
-
1Loss-
COMMD1-
-
-
-
6Amp-
COMMD3-
-
-
-
1Loss-
COMMD3-BMI1-
-
-
-
1Loss-
COMMD7-
-
-
-
3Gain-
COMMD8-
-
-
-
1Loss-
COMMD9-
-
-
-
1Loss-
COMTD1-
-
-
-
1Loss-
COPB1-
-
-
-
1Loss-
COPRS-
-
-
-
1Loss-
COPS3-
-
-
-
1Loss-
COPS4-
-
-
-
1Loss-
COPZ1-
-
-
-
1Loss-
COQ10A-
-
-
-
1Loss-
COQ2-
-
-
-
1Loss-
COQ6-
-
-
-
1Loss-
CORIN-
-
-
-
1Loss-
CORO1B-
-
-
-
1Loss-
CORO1C-
-
-
-
3Gain-
CORO6-
-
-
-
1Loss-
CORT-
-
-
-
3Gain-
COX10-
-
-
-
1Loss-
COX14-
-
-
-
1Loss-
COX15-
-
-
-
1Loss-
COX16-
-
-
-
1Loss-
COX18-
-
-
-
1Loss-
COX19-
-
-
-
3Gain-
COX4I2-
-
-
-
3Gain-
COX6B2-
-
-
-
3Gain-
COX7A2L-
-
-
-
1Loss-
COX7B2-
-
-
-
1Loss-
COX8A-
-
-
-
1Loss-
COX8C-
-
-
-
1Loss-
CPA3p.R237C
Missense
SNP
0.350
2--
CPD-
-
-
-
1Loss-
CPE-
-
-
-
1Loss-
CPEB2-
-
-
-
1Loss-
CPEB3-
-
-
-
1Loss-
CPLANE1-
-
-
-
1Loss-
CPLANE2-
-
-
-
3Gain-
CPLX1-
-
-
-
1Loss-
CPM-
-
-
-
1Loss-
CPN1-
-
-
-
1Loss-
CPNE1-
-
-
-
3Gain-
CPNE6-
-
-
-
1Loss-
CPNE8-
-
-
-
1Loss-
CPNE9-
-
-
-
1Loss-
CPSF2-
-
-
-
1Loss-
CPSF3-
-
-
-
1Loss-
CPSF6-
-
-
-
1Loss-
CPSF7-
-
-
-
1Loss-
CPT1A-
-
-
-
1Loss-
CPT1B-
-
-
-
3Gain-
CPT2-
-
-
-
3Gain-
CPTP-
-
-
-
3Gain-
CPVL-
-
-
-
3Gain-
CPXM1-
-
-
-
1Loss-
CPXM2-
-
-
-
1Loss-
CPZ-
-
-
-
1Loss-
CRACR2B-
-
-
-
1Loss-
CRADD-
-
-
-
1Loss-
CRBN-
-
-
-
1Loss-
CREB3L1-
-
-
-
1Loss-
CREB3L3-
-
-
-
1Loss-
CREB5-
-
-
-
3Gain-
CREBZF-
-
-
-
1Loss-
CRELD1-
-
-
-
1Loss-
CRELD2-
-
-
-
3Gain-
CREM-
-
-
-
1Loss-
CRHR2-
-
-
-
3Gain-
CRIM1-
-
-
-
1Loss-
CRIP1-
-
-
-
1Loss-
CRIP2-
-
-
-
1Loss-
CRIPT-
-
-
-
1Loss-
CRK-
-
-
-
1Loss-
CRLF3-
-
-
-
1Loss-
CRLS1-
-
-
-
1Loss-
CRMP1-
-
-
-
1Loss-
CRNKL1p.P126S
Missense
SNP
1.000
1Loss-
CROCC-
-
-
-
3Gain-
CRTAC1-
-
-
-
1Loss-
CRTAM-
-
-
-
0Del-
CRTAP-
-
-
-
1Loss-
CRY1-
-
-
-
0DelCRY1--TTC41P
CRY2-
-
-
-
1Loss-
CRYAB-
-
-
-
0Del-
CRYBA1-
-
-
-
1Loss-
CRYBG2-
-
-
-
3Gain-
CRYL1-
-
-
-
1Loss-
CRYZ-
-
-
-
3Gain-
CS-
-
-
-
1Loss-
CSAD-
-
-
-
1Loss-
CSDC2-
-
-
-
3Gain-
CSDE1-
-
-
-
3Gain-
CSE1L-
-
-
-
3Gain-
CSF1-
-
-
-
3Gain-
CSF2RB-
-
-
-
3Gain-
CSF3Rp.A333T
Missense
SNP
0.334
3Gain-
CSGALNACT1-
-
-
-
1Loss-
CSGALNACT2-
-
-
-
1Loss-
CSKMT-
-
-
-
1Loss-
CSMD1p.E3527K
p.S1067F
p.F544I
Missense
Missense
Missense
SNP
SNP
SNP
0.415
0.621
0.574
1Loss-
CSMD2-
-
-
-
3Gain-
CSMD3p.Q2587H
p.G1102E
p.S280L
p.G247E
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.230
0.713
0.300
0.693
3Gain-
CSN1S1-
-
-
-
1Loss-
CSN2-
-
-
-
1Loss-
CSN3-
-
-
-
1Loss-
CSNK1E-
-
-
-
3Gain-
CSNK1G2-
-
-
-
1Loss-
CSNK2A1-
-
-
-
1Loss-
CSNK2A3-
-
-
-
1Loss-
CSRNP2-
-
-
-
1Loss-
CSRP2-
-
-
-
1Loss-
CSRP3-
-
-
-
1Loss-
CST1-
-
-
-
1Loss-
CST11-
-
-
-
1Loss-
CST2-
-
-
-
1Loss-
CST3-
-
-
-
1Loss-
CST4-
-
-
-
1Loss-
CST5-
-
-
-
1Loss-
CST6-
-
-
-
1Loss-
CST7-
-
-
-
1Loss-
CST8-
-
-
-
1Loss-
CST9-
-
-
-
1Loss-
CST9L-
-
-
-
1Loss-
CSTF1-
-
-
-
3Gain-
CSTF2T-
-
-
-
1Loss-
CSTF3-
-
-
-
1Loss-
CSTL1-
-
-
-
1Loss-
CTBP1-
-
-
-
1Loss-
CTBP2-
-
-
-
1Loss-
CTBS-
-
-
-
3Gain-
CTC1-
-
-
-
1Loss-
CTCFL-
-
-
-
3Gain-
CTDNEP1-
-
-
-
1Loss-
CTDSP2-
-
-
-
1Loss-
CTH-
-
-
-
3Gain-
CTNNA2-
-
-
-
3Gain-
CTNNA3-
-
-
-
1Loss-
CTNNBIP1-
-
-
-
3Gain-
CTNNBL1-
-
-
-
3Gain-
CTNND1-
-
-
-
1Loss-
CTNND2p.E182K
Missense
SNP
0.410
1Loss-
CTNS-
-
-
-
1Loss-
CTPS1-
-
-
-
3Gain-
CTR9-
-
-
-
1Loss-
CTRC-
-
-
-
3Gain-
CTSA-
-
-
-
3Gain-
CTSB-
-
-
-
1Loss-
CTSC-
-
-
-
1Loss-
CTSD-
-
-
-
1Loss-
CTSF-
-
-
-
1Loss-
CTSG-
-
-
-
1Loss-
CTSO-
-
-
-
1Loss-
CTSW-
-
-
-
1Loss-
CTSZ-
-
-
-
3Gain-
CTTN-
-
-
-
1Loss-
CTTNBP2NL-
-
-
-
3Gain-
CUBN-
-
-
-
1Loss-
CUEDC2-
-
-
-
1Loss-
CUL2-
-
-
-
1Loss-
CUL5-
-
-
-
0Del-
CUTC-
-
-
-
1Loss-
CUZD1-
-
-
-
1Loss-
CWC15-
-
-
-
1Loss-
CWF19L1-
-
-
-
1Loss-
CWF19L2-
-
-
-
0Del-
CWH43p.E685K
Missense
SNP
1.000
1Loss-
CXCL1-
-
-
-
1Loss-
CXCL10-
-
-
-
1Loss-
CXCL11-
-
-
-
1Loss-
CXCL12-
-
-
-
1Loss-
CXCL13-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXCL2-
-
-
-
1Loss-
CXCL3-
-
-
-
1Loss-
CXCL5-
-
-
-
1Loss-
CXCL6-
-
-
-
1Loss-
CXCL8-
-
-
-
1Loss-
CXCL9-
-
-
-
1Loss-
CXCR5-
-
-
-
0Del-
CXXC4-
-
-
-
1Loss-
CYB561A3-
-
-
-
1Loss-
CYB561D1-
-
-
-
3Gain-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5R2-
-
-
-
1Loss-
CYB5R3-
-
-
-
3Gain-
CYB5RL-
-
-
-
3Gain-
CYCS-
-
-
-
3Gain-
CYP17A1-
-
-
-
1Loss-
CYP1B1-
-
-
-
1Loss-
CYP24A1p.R514*
Nonsense
SNP
0.422
3Gain-
CYP26A1-
-
-
-
1Loss-
CYP26B1-
-
-
-
1Loss-
CYP26C1-
-
-
-
1Loss-
CYP27B1-
-
-
-
1Loss-
CYP2C18-
-
-
-
1Loss-
CYP2C19-
-
-
-
1Loss-
CYP2C8-
-
-
-
1Loss-
CYP2C9-
-
-
-
1Loss-
CYP2D6-
-
-
-
3Gain-
CYP2D7-
-
-
-
3Gain-
CYP2E1-
-
-
-
1Loss-
CYP2J2-
-
-
-
3Gain-
CYP2R1-
-
-
-
1Loss-
CYP2U1-
-
-
-
1Loss-
CYP2W1-
-
-
-
3Gain-
CYP46A1-
-
-
-
1Loss-
CYP4A11-
-
-
-
3Gain-
CYP4A22-
-
-
-
3Gain-
CYP4B1p.G86R
Missense
SNP
0.479
3Gain-
CYP4V2-
-
-
-
1Loss-
CYP4X1-
-
-
-
3Gain-
CYP4Z1-
-
-
-
3Gain-
CYP7B1p.E321K
Missense
SNP
0.429
2--
CYR61-
-
-
-
3Gain-
CYS1-
-
-
-
1Loss-
CYTH3-
-
-
-
3Gain-
CYTH4-
-
-
-
3Gain-
CYTL1-
-
-
-
1Loss-
DAAM1-
-
-
-
1Loss-
DAB1-
-
-
-
3Gain-
DAB2-
-
-
-
1Loss-
DACT1-
-
-
-
1Loss-
DAD1-
-
-
-
1Loss-
DAGLA-
-
-
-
1Loss-
DAGLB-
-
-
-
3Gain-
DAO-
-
-
-
3Gain-
DAP-
-
-
-
1Loss-
DAPK3-
-
-
-
1Loss-
DAPP1-
-
-
-
1Loss-
DAZAP1-
-
-
-
1Loss-
DAZAP2-
-
-
-
1Loss-
DAZL-
-
-
-
1Loss-
DBNDD2-
-
-
-
3Gain-
DBNL-
-
-
-
3Gain-
DBT-
-
-
-
3Gain-
DBX1-
-
-
-
1Loss-
DBX2-
-
-
-
1Loss-
DCAF11-
-
-
-
1Loss-
DCAF16-
-
-
-
1Loss-
DCAF4-
-
-
-
1Loss-
DCAF4L1-
-
-
-
1Loss-
DCAF5-
-
-
-
1Loss-
DCD-
-
-
-
1Loss-
DCDC1-
-
-
-
1Loss-
DCDC2B-
-
-
-
3Gain-
DCDC2C-
-
-
-
1Loss-
DCHS1-
-
-
-
1Loss-
DCHS2-
-
-
-
1Loss-
DCK-
-
-
-
1Loss-
DCLK2-
-
-
-
1Loss-
DCLRE1A-
-
-
-
1Loss-
DCLRE1B-
-
-
-
3Gain-
DCLRE1C-
-
-
-
1Loss-
DCN-
-
-
-
1Loss-
DCPS-
-
-
-
0Del-
DCT-
-
-
-
3Gain-
DCTD-
-
-
-
1Loss-
DCTN1-
-
-
-
1Loss-
DCTN2-
-
-
-
1Loss-
DCTN6-
-
-
-
1Loss-
DCUN1D4-
-
-
-
1Loss-
DCUN1D5-
-
-
-
0Del-
DDAH1-
-
-
-
3Gain-
DDB1-
-
-
-
1Loss-
DDB2-
-
-
-
1Loss-
DDC-
-
-
-
3Gain-
DDHD1-
-
-
-
1Loss-
DDHD2-
-
-
-
1Loss-
DDI1-
-
-
-
0Del-
DDI2-
-
-
-
3Gain-
DDIAS-
-
-
-
1Loss-
DDIT3-
-
-
-
1Loss-
DDIT4-
-
-
-
1Loss-
DDIT4L-
-
-
-
1Loss-
DDNp.G296E
Missense
SNP
1.000
1Loss-
DDOST-
-
-
-
3Gain-
DDRGK1-
-
-
-
1Loss-
DDX1p.S617F
Missense
SNP
0.429
1Loss-
DDX10-
-
-
-
0Del-
DDX17-
-
-
-
3Gain-
DDX20-
-
-
-
3Gain-
DDX21-
-
-
-
1Loss-
DDX23-
-
-
-
1Loss-
DDX24-
-
-
-
1Loss-
DDX25-
-
-
-
0Del-
DDX27-
-
-
-
3Gain-
DDX4p.E607K
Missense
SNP
0.675
2--
DDX50-
-
-
-
1Loss-
DDX54-
-
-
-
3Gain-
DDX56-
-
-
-
3Gain-
DDX6-
-
-
-
0Del-
DDX60-
-
-
-
1Loss-
DDX60L-
-
-
-
1Loss-
DEAF1-
-
-
-
1Loss-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB115-
-
-
-
3Gain-
DEFB116-
-
-
-
3Gain-
DEFB118-
-
-
-
3Gain-
DEFB119-
-
-
-
3Gain-
DEFB121-
-
-
-
3Gain-
DEFB123-
-
-
-
3Gain-
DEFB124-
-
-
-
3Gain-
DEFB125-
-
-
-
1Loss-
DEFB126-
-
-
-
1Loss-
DEFB127-
-
-
-
1Loss-
DEFB128-
-
-
-
1Loss-
DEFB129-
-
-
-
1Loss-
DEFB132-
-
-
-
1Loss-
DEFB134-
-
-
-
1Loss-
DEFB135-
-
-
-
1Loss-
DEFB136-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DEGS2-
-
-
-
1Loss-
DENND2Cp.E800K
Missense
SNP
0.500
3Gain-
DENND2D-
-
-
-
3Gain-
DENND5A-
-
-
-
1Loss-
DENND6B-
-
-
-
3Gain-
DEPDC1-
-
-
-
3Gain-
DEPDC4-
-
-
-
1Loss-
DEPDC5-
-
-
-
3Gain-
DEPDC7-
-
-
-
1Loss-
DEPP1-
-
-
-
1Loss-
DERL2-
-
-
-
1Loss-
DESI1-
-
-
-
3Gain-
DEUP1-
-
-
-
1Loss-
DFFA-
-
-
-
3Gain-
DFFB-
-
-
-
3Gain-
DGAT2-
-
-
-
1Loss-
DGKA-
-
-
-
1Loss-
DGKB-
-
-
-
3Gain-
DGKQ-
-
-
-
1Loss-
DGKZ-
-
-
-
1Loss-
DGLUCY-
-
-
-
1Loss-
DGUOK-
-
-
-
1Loss-
DHCR24-
-
-
-
3Gain-
DHCR7-
-
-
-
1Loss-
DHDDS-
-
-
-
3Gain-
DHH-
-
-
-
1Loss-
DHRS1-
-
-
-
1Loss-
DHRS13-
-
-
-
1Loss-
DHRS2-
-
-
-
1Loss-
DHRS3-
-
-
-
3Gain-
DHRS4-
-
-
-
1Loss-
DHRS4L2-
-
-
-
1Loss-
DHRS7-
-
-
-
1Loss-
DHRS7B-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHTKD1-
-
-
-
1Loss-
DHX15-
-
-
-
1Loss-
DHX32-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DHX35-
-
-
-
3Gain-
DHX57-
-
-
-
1Loss-
DICER1-
-
-
-
1Loss-
DIDO1-
-
-
-
3Gain-
DIO1-
-
-
-
3Gain-
DIO2-
-
-
-
1Loss-
DIO3-
-
-
-
1Loss-
DIP2B-
-
-
-
1Loss-
DIP2C-
-
-
-
1Loss-
DIRAS1-
-
-
-
1Loss-
DIRAS3-
-
-
-
3Gain-
DISP3-
-
-
-
3Gain-
DIXDC1-
-
-
-
0Del-
DKK1-
-
-
-
1Loss-
DKK2-
-
-
-
1Loss-
DKK3-
-
-
-
1Loss-
DKK4-
-
-
-
1Loss-
DLAT-
-
-
-
0Del-
DLC1-
-
-
-
1Loss-
DLG2-
-
-
-
1Loss-
DLG4p.P339L
Missense
SNP
1.000
1Loss-
DLG5-
-
-
-
1Loss-
DLGAP2-
-
-
-
1Loss-
DLGAP3-
-
-
-
3Gain-
DLGAP4-
-
-
-
3Gain-
DLGAP5-
-
-
-
1Loss-
DLK1-
-
-
-
1Loss-
DLST-
-
-
-
1Loss-
DMAP1-
-
-
-
3Gain-
DMBT1-
-
-
-
1Loss-
DMBX1-
-
-
-
3Gain-
DMC1-
-
-
-
3Gain-
DMDp.D2519N
Missense
SNP
1.000
NDND-
DMGDHp.P371S
Missense
SNP
0.284
2--
DMP1-
-
-
-
1Loss-
DMRT3p.P426S
Missense
SNP
0.353
2--
DMRTA2-
-
-
-
3Gain-
DMRTB1-
-
-
-
3Gain-
DMTN-
-
-
-
1Loss-
DNA2-
-
-
-
1Loss-
DNAAF2-
-
-
-
1Loss-
DNAAF3-
-
-
-
3Gain-
DNAAF5-
-
-
-
3Gain-
DNAH11-
-
-
-
3Gain-
DNAH2-
-
-
-
1Loss-
DNAH3p.E1698K
Missense
SNP
0.656
2--
DNAH5p.E474K
Missense
SNP
0.460
1Loss-
DNAH6p.R2052Q
Missense
SNP
0.472
1Loss-
DNAH8p.G3662E
p.V3832A
Missense
Missense
SNP
SNP
0.272
0.680
2--
DNAH9-
-
-
-
1Loss-
DNAJB12-
-
-
-
1Loss-
DNAJB13-
-
-
-
1Loss-
DNAJB14-
-
-
-
1Loss-
DNAJB4-
-
-
-
3Gain-
DNAJB7-
-
-
-
3Gain-
DNAJC1-
-
-
-
1Loss-
DNAJC11-
-
-
-
3Gain-
DNAJC12-
-
-
-
1Loss-
DNAJC14-
-
-
-
1Loss-
DNAJC16-
-
-
-
3Gain-
DNAJC21-
-
-
-
1Loss-
DNAJC22-
-
-
-
1Loss-
DNAJC24-
-
-
-
1Loss-
DNAJC27-
-
-
-
1Loss-
DNAJC4-
-
-
-
1Loss-
DNAJC5-
-
-
-
3Gain-
DNAJC5G-
-
-
-
1Loss-
DNAJC6-
-
-
-
3Gain-
DNAJC8-
-
-
-
3Gain-
DNAJC9-
-
-
-
1Loss-
DNAL1-
-
-
-
1Loss-
DNAL4-
-
-
-
3Gain-
DNALI1-
-
-
-
3Gain-
DNASE2B-
-
-
-
3Gain-
DNHD1-
-
-
-
1Loss-
DNMBP-
-
-
-
1Loss-
DNMT3A-
-
-
-
1Loss-
DNMT3B-
-
-
-
3Gain-
DNTT-
-
-
-
1Loss-
DNTTIP1-
-
-
-
3Gain-
DNTTIP2-
-
-
-
3Gain-
DOC2B-
-
-
-
1Loss-
DOCK1-
-
-
-
1Loss-
DOCK3p.E752K
Missense
SNP
0.282
2--
DOCK5-
-
-
-
1Loss-
DOCK7-
-
-
-
3Gain-
DOHH-
-
-
-
1Loss-
DOK1-
-
-
-
1Loss-
DOK2-
-
-
-
1Loss-
DOK5-
-
-
-
3Gain-
DOK7-
-
-
-
1Loss-
DOT1L-
-
-
-
1Loss-
DPAGT1-
-
-
-
0Del-
DPCD-
-
-
-
1Loss-
DPCR1p.E926K
Missense
SNP
0.613
NDND-
DPF2-
-
-
-
1Loss-
DPF3p.P123L
Missense
SNP
1.000
1Loss-
DPH1-
-
-
-
1Loss-
DPH2-
-
-
-
3Gain-
DPH3-
-
-
-
1Loss-
DPH5-
-
-
-
3Gain-
DPM1-
-
-
-
3Gain-
DPP3-
-
-
-
1Loss-
DPP9-
-
-
-
1Loss-
DPY19L1-
-
-
-
3Gain-
DPY19L2-
-
-
-
1Loss-
DPY30-
-
-
-
1Loss-
DPYD-
-
-
-
3Gain-
DPYSL2-
-
-
-
1Loss-
DPYSL4-
-
-
-
1Loss-
DPYSL5-
-
-
-
1Loss-
DQX1-
-
-
-
1Loss-
DR1-
-
-
-
3Gain-
DRAM1-
-
-
-
3Gain-
DRAM2-
-
-
-
3Gain-
DRAP1-
-
-
-
1Loss-
DRAXIN-
-
-
-
3Gain-
DRC1-
-
-
-
1Loss-
DRC3-
-
-
-
1Loss-
DRD2-
-
-
-
0Del-
DRD4-
-
-
-
1Loss-
DRD5-
-
-
-
1Loss-
DRG1-
-
-
-
3Gain-
DRG2-
-
-
-
1Loss-
DRGX-
-
-
-
1Loss-
DROSHA-
-
-
-
1Loss-
DSCAML1p.D949N
Missense
SNP
1.000
0Del-
DSEp.E190K
Missense
SNP
0.283
2--
DSG1p.S767L
Missense
SNP
0.354
2--
DSN1-
-
-
-
3Gain-
DSPP-
-
-
-
1Loss-
DSTN-
-
-
-
1Loss-
DTD1-
-
-
-
1Loss-
DTD2-
-
-
-
1Loss-
DTHD1-
-
-
-
1Loss-
DTNB-
-
-
-
1Loss-
DTX1-
-
-
-
3Gain-
DTX3-
-
-
-
1Loss-
DTX4-
-
-
-
1Loss-
DUPD1-
-
-
-
1Loss-
DUSP11-
-
-
-
1Loss-
DUSP13-
-
-
-
1Loss-
DUSP15-
-
-
-
3Gain-
DUSP18-
-
-
-
3Gain-
DUSP26-
-
-
-
1Loss-
DUSP4-
-
-
-
1Loss-
DUSP5-
-
-
-
1Loss-
DUSP6-
-
-
-
1Loss-
DUSP8-
-
-
-
1Loss-
DUXAp.R66*
Nonsense
SNP
0.450
3Gain-
DVL1-
-
-
-
3Gain-
DVL2-
-
-
-
1Loss-
DYDC1-
-
-
-
1Loss-
DYDC2-
-
-
-
1Loss-
DYNC1H1-
-
-
-
1Loss-
DYNC1I2p.P181S
Missense
SNP
0.652
2--
DYNC1LI1-
-
-
-
1Loss-
DYNC2H1-
-
-
-
0Del-
DYNC2LI1-
-
-
-
1Loss-
DYNLRB1-
-
-
-
3Gain-
DYRK2-
-
-
-
1Loss-
DYSF-
-
-
-
1Loss-
DZANK1-
-
-
-
1Loss-
E2F1-
-
-
-
3Gain-
E2F2-
-
-
-
3Gain-
E2F3p.P415S
Missense
SNP
0.660
2--
E2F6-
-
-
-
1Loss-
E2F7-
-
-
-
1Loss-
E2F8-
-
-
-
1Loss-
EAF1-
-
-
-
1Loss-
EAPP-
-
-
-
1Loss-
EBF2-
-
-
-
1Loss-
EBF3-
-
-
-
1Loss-
EBF4-
-
-
-
1Loss-
EBI3-
-
-
-
1Loss-
EBLN1-
-
-
-
1Loss-
EBNA1BP2-
-
-
-
3Gain-
ECD-
-
-
-
1Loss-
ECE1-
-
-
-
3Gain-
ECHDC2-
-
-
-
3Gain-
ECHDC3-
-
-
-
1Loss-
ECHS1-
-
-
-
1Loss-
ECT2Lp.R685Q
Missense
SNP
0.354
2--
EDDM3A-
-
-
-
1Loss-
EDDM3B-
-
-
-
1Loss-
EDEM1-
-
-
-
1Loss-
EDEM2-
-
-
-
3Gain-
EDN2-
-
-
-
3Gain-
EDN3-
-
-
-
3Gain-
EDNRA-
-
-
-
1Loss-
EDRF1-
-
-
-
1Loss-
EEA1-
-
-
-
1Loss-
EED-
-
-
-
1Loss-
EEF1A2-
-
-
-
3Gain-
EEF1AKMT1-
-
-
-
1Loss-
EEF1AKMT2-
-
-
-
1Loss-
EEF1AKMT3-
-
-
-
1Loss-
EEF1G-
-
-
-
1Loss-
EEF2-
-
-
-
1Loss-
EEPD1-
-
-
-
3Gain-
EFCAB1-
-
-
-
1Loss-
EFCAB11-
-
-
-
1Loss-
EFCAB14-
-
-
-
3Gain-
EFCAB5-
-
-
-
1Loss-
EFCAB6-
-
-
-
3Gain-
EFCAB7-
-
-
-
3Gain-
EFCAB8-
-
-
-
3Gain-
EFEMP1-
-
-
-
1Loss-
EFEMP2-
-
-
-
1Loss-
EFHB-
-
-
-
1Loss-
EFHD2-
-
-
-
3Gain-
EFNA2-
-
-
-
1Loss-
EFNB3-
-
-
-
1Loss-
EFR3B-
-
-
-
1Loss-
EFS-
-
-
-
1Loss-
EGF-
-
-
-
1Loss-
EGFLAM-
-
-
-
1Loss-
EGFR-
-
-
-
3Gain-
EGLN3-
-
-
-
1Loss-
EGR2-
-
-
-
1Loss-
EGR3-
-
-
-
1Loss-
EGR4-
-
-
-
1Loss-
EHBP1p.T264I
Missense
SNP
0.190
3Gain-
EHBP1L1-
-
-
-
1Loss-
EHD1-
-
-
-
1Loss-
EHD3-
-
-
-
1Loss-
EHF-
-
-
-
1Loss-
EI24-
-
-
-
0Del-
EIF1AD-
-
-
-
1Loss-
EIF2AK1-
-
-
-
3Gain-
EIF2AK2-
-
-
-
1Loss-
EIF2B2-
-
-
-
1Loss-
EIF2B3-
-
-
-
3Gain-
EIF2B4-
-
-
-
1Loss-
EIF2S1-
-
-
-
1Loss-
EIF2S2-
-
-
-
3Gain-
EIF3A-
-
-
-
1Loss-
EIF3B-
-
-
-
3Gain-
EIF3D-
-
-
-
3Gain-
EIF3F-
-
-
-
1Loss-
EIF3I-
-
-
-
3Gain-
EIF3L-
-
-
-
3Gain-
EIF3M-
-
-
-
1Loss-
EIF4A1-
-
-
-
1Loss-
EIF4B-
-
-
-
1Loss-
EIF4E-
-
-
-
1Loss-
EIF4EBP1-
-
-
-
1Loss-
EIF4EBP2-
-
-
-
1Loss-
EIF4ENIF1-
-
-
-
3Gain-
EIF4G2-
-
-
-
1Loss-
EIF4G3-
-
-
-
3Gain-
EIF5-
-
-
-
1Loss-
EIF5A-
-
-
-
1Loss-
EIF5AL1-
-
-
-
1Loss-
EIF6-
-
-
-
3Gain-
EIPR1-
-
-
-
1Loss-
ELAC2-
-
-
-
1Loss-
ELANE-
-
-
-
1Loss-
ELAVL4p.P176L
p.R209K
Missense
Missense
SNP
SNP
0.504
0.465
3Gain-
ELF2-
-
-
-
1Loss-
ELF5-
-
-
-
1Loss-
ELFN1-
-
-
-
3Gain-
ELFN2-
-
-
-
3Gain-
ELK3-
-
-
-
1Loss-
ELMO1-
-
-
-
3Gain-
ELMO2-
-
-
-
3Gain-
ELMOD1-
-
-
-
0Del-
ELMOD2-
-
-
-
1Loss-
ELMOD3-
-
-
-
1Loss-
ELMSAN1-
-
-
-
1Loss-
ELOA-
-
-
-
3Gain-
ELOVL1-
-
-
-
3Gain-
ELOVL3-
-
-
-
1Loss-
ELOVL6-
-
-
-
1Loss-
ELP3-
-
-
-
1Loss-
ELP4-
-
-
-
1Loss-
ELP5-
-
-
-
1Loss-
EMB-
-
-
-
4Gain-
EMC1-
-
-
-
3Gain-
EMC3-
-
-
-
1Loss-
EMC6-
-
-
-
1Loss-
EMC9-
-
-
-
1Loss-
EMCN-
-
-
-
1Loss-
EMILIN1-
-
-
-
1Loss-
EMILIN3-
-
-
-
3Gain-
EML1-
-
-
-
1Loss-
EML3-
-
-
-
1Loss-
EML4-
-
-
-
1Loss-
EML5-
-
-
-
1Loss-
EML6-
-
-
-
1Loss-
EMSY-
-
-
-
1Loss-
EMX1-
-
-
-
1Loss-
EMX2-
-
-
-
1Loss-
ENAM-
-
-
-
1Loss-
ENDOD1-
-
-
-
1Loss-
ENDOU-
-
-
-
1Loss-
ENKUR-
-
-
-
1Loss-
ENO1-
-
-
-
3Gain-
ENO3-
-
-
-
1Loss-
ENO4-
-
-
-
1Loss-
ENOPH1-
-
-
-
1Loss-
ENPEPp.A54V
Missense
SNP
1.000
1Loss-
ENPP6-
-
-
-
1Loss-
ENTHD1-
-
-
-
3Gain-
ENTPD1-
-
-
-
1Loss-
ENTPD4-
-
-
-
1Loss-
ENTPD5-
-
-
-
1Loss-
ENTPD6-
-
-
-
1Loss-
ENTPD7-
-
-
-
1Loss-
EOMES-
-
-
-
1Loss-
EP300-
-
-
-
3Gain-
EPAS1-
-
-
-
1Loss-
EPB41-
-
-
-
3Gain-
EPB41L1p.E825K
Missense
SNP
0.489
3Gain-
EPB42p.E126K
Missense
SNP
0.663
2--
EPC1-
-
-
-
1Loss-
EPCAM-
-
-
-
1Loss-
EPDR1-
-
-
-
3Gain-
EPGN-
-
-
-
1Loss-
EPHA10-
-
-
-
3Gain-
EPHA2-
-
-
-
3Gain-
EPHA4p.R489C
Missense
SNP
0.306
2--
EPHA5p.G760S
Missense
SNP
0.483
1Loss-
EPHA8-
-
-
-
3Gain-
EPHB2-
-
-
-
3Gain-
EPHX2-
-
-
-
1Loss-
EPHX4-
-
-
-
3Gain-
EPN1-
-
-
-
3Gain-
EPN2-
-
-
-
1Loss-
EPPIN-
-
-
-
3Gain-
EPPIN-WFDC6-
-
-
-
3Gain-
EPS15-
-
-
-
3Gain-
EPS8L1-
-
-
-
3Gain-
EPS8L2-
-
-
-
1Loss-
EPS8L3-
-
-
-
3Gain-
EPYC-
-
-
-
1Loss-
ERAL1-
-
-
-
1Loss-
ERBB3-
-
-
-
1Loss-
ERBB4p.G918E
Missense
SNP
0.314
2--
ERC2p.E885K
Missense
SNP
0.747
2--
ERCC6-
-
-
-
1Loss-
EREG-
-
-
-
1Loss-
ERG28-
-
-
-
1Loss-
ERGIC3-
-
-
-
3Gain-
ERH-
-
-
-
1Loss-
ERI1-
-
-
-
1Loss-
ERI3-
-
-
-
3Gain-
ERICH1-
-
-
-
1Loss-
ERICH3p.S340F
Missense
SNP
0.537
3Gain-
ERICH6Bp.W391*
Nonsense
SNP
1.000
2--
ERLEC1-
-
-
-
1Loss-
ERLIN1-
-
-
-
1Loss-
ERLIN2-
-
-
-
1Loss-
ERMAP-
-
-
-
3Gain-
ERO1A-
-
-
-
1Loss-
ERP29-
-
-
-
3Gain-
ERRFI1-
-
-
-
3Gain-
ERVMER34-1-
-
-
-
1Loss-
ESAM-
-
-
-
0Del-
ESCO2-
-
-
-
1Loss-
ESF1-
-
-
-
1Loss-
ESPL1-
-
-
-
1Loss-
ESPN-
-
-
-
3Gain-
ESR2-
-
-
-
1Loss-
ESRRA-
-
-
-
1Loss-
ESRRB-
-
-
-
1Loss-
ESRRGp.E319K
Missense
SNP
0.641
2--
ESX1p.R196Q
Missense
SNP
0.939
NDND-
ESYT1-
-
-
-
1Loss-
ETAA1-
-
-
-
1Loss-
ETFDH-
-
-
-
1Loss-
ETNPPL-
-
-
-
1Loss-
ETS1-
-
-
-
0Del-
ETV1-
-
-
-
3Gain-
EVA1A-
-
-
-
1Loss-
EVA1B-
-
-
-
3Gain-
EVC-
-
-
-
1Loss-
EVC2-
-
-
-
1Loss-
EVI2A-
-
-
-
1Loss-
EVI2B-
-
-
-
1Loss-
EVI5-
-
-
-
3Gain-
EVL-
-
-
-
1Loss-
EVPLL-
-
-
-
1Loss-
EVX1-
-
-
-
3Gain-
EXD2-
-
-
-
1Loss-
EXO5-
-
-
-
3Gain-
EXOC1-
-
-
-
1Loss-
EXOC1L-
-
-
-
1Loss-
EXOC3-
-
-
-
1Loss-
EXOC3L4-
-
-
-
1Loss-
EXOC5-
-
-
-
1Loss-
EXOC6-
-
-
-
1Loss-
EXOC6B-
-
-
-
1Loss-
EXOSC1-
-
-
-
1Loss-
EXOSC10-
-
-
-
3Gain-
EXOSC9-
-
-
-
1Loss-
EXPH5-
-
-
-
0Del-
EXT2-
-
-
-
1Loss-
EXTL1p.L451F
Missense
SNP
0.449
3Gain-
EXTL2-
-
-
-
3Gain-
EXTL3-
-
-
-
1Loss-
EYA2-
-
-
-
3Gain-
EYA3-
-
-
-
3Gain-
F11-
-
-
-
1Loss-
F2-
-
-
-
1Loss-
F3-
-
-
-
3Gain-
F8p.D75N
Missense
SNP
0.992
NDND-
FAAH-
-
-
-
3Gain-
FAAP20-
-
-
-
3Gain-
FABP2-
-
-
-
1Loss-
FABP3-
-
-
-
3Gain-
FADD-
-
-
-
1Loss-
FADS1-
-
-
-
1Loss-
FADS2-
-
-
-
1Loss-
FADS3-
-
-
-
1Loss-
FAF1-
-
-
-
3Gain-
FAIM2-
-
-
-
1Loss-
FAM102B-
-
-
-
3Gain-
FAM107B-
-
-
-
1Loss-
FAM110A-
-
-
-
1Loss-
FAM110C-
-
-
-
1Loss-
FAM110D-
-
-
-
3Gain-
FAM111A-
-
-
-
1Loss-
FAM111B-
-
-
-
1Loss-
FAM114A1-
-
-
-
1Loss-
FAM118A-
-
-
-
3Gain-
FAM118B-
-
-
-
0Del-
FAM126A-
-
-
-
3Gain-
FAM131C-
-
-
-
3Gain-
FAM136A-
-
-
-
1Loss-
FAM13A-
-
-
-
1Loss-
FAM13C-
-
-
-
1Loss-
FAM149A-
-
-
-
1Loss-
FAM149B1-
-
-
-
1Loss-
FAM151A-
-
-
-
3Gain-
FAM160A1-
-
-
-
1Loss-
FAM160A2-
-
-
-
1Loss-
FAM160B1-
-
-
-
1Loss-
FAM160B2-
-
-
-
1Loss-
FAM161A-
-
-
-
6Amp-
FAM161B-
-
-
-
1Loss-
FAM167A-
-
-
-
1Loss-
FAM167B-
-
-
-
3Gain-
FAM168A-
-
-
-
1Loss-
FAM170B-
-
-
-
1Loss-
FAM171A1-
-
-
-
1Loss-
FAM173B-
-
-
-
1Loss-
FAM177A1-
-
-
-
1Loss-
FAM180B-
-
-
-
1Loss-
FAM181A-
-
-
-
1Loss-
FAM181B-
-
-
-
1Loss-
FAM183A-
-
-
-
3Gain-
FAM184B-
-
-
-
1Loss-
FAM186A-
-
-
-
1Loss-
FAM186B-
-
-
-
1Loss-
FAM193A-
-
-
-
1Loss-
FAM198B-
-
-
-
1Loss-
FAM19A2-
-
-
-
1Loss-
FAM19A3-
-
-
-
3Gain-
FAM19A5-
-
-
-
3Gain-
FAM200B-
-
-
-
1Loss-
FAM204A-
-
-
-
1Loss-
FAM208B-
-
-
-
1Loss-
FAM209A-
-
-
-
3Gain-
FAM209B-
-
-
-
3Gain-
FAM20C-
-
-
-
3Gain-
FAM210B-
-
-
-
3Gain-
FAM217B-
-
-
-
3Gain-
FAM218A-
-
-
-
1Loss-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM222B-
-
-
-
1Loss-
FAM227A-
-
-
-
3Gain-
FAM228A-
-
-
-
1Loss-
FAM228B-
-
-
-
1Loss-
FAM229A-
-
-
-
3Gain-
FAM241A-
-
-
-
1Loss-
FAM241B-
-
-
-
1Loss-
FAM24A-
-
-
-
1Loss-
FAM24B-
-
-
-
1Loss-
FAM43B-
-
-
-
3Gain-
FAM45A-
-
-
-
1Loss-
FAM47E-
-
-
-
1Loss-
FAM47E-STBD1-
-
-
-
1Loss-
FAM49A-
-
-
-
1Loss-
FAM53A-
-
-
-
1Loss-
FAM53B-
-
-
-
1Loss-
FAM57A-
-
-
-
1Loss-
FAM69A-
-
-
-
3Gain-
FAM71C-
-
-
-
1Loss-
FAM71D-
-
-
-
1Loss-
FAM71E2-
-
-
-
3Gain-
FAM76A-
-
-
-
3Gain-
FAM76B-
-
-
-
1Loss-
FAM83Bp.R925Q
Missense
SNP
0.616
2--
FAM83C-
-
-
-
3Gain-
FAM83D-
-
-
-
3Gain-
FAM83F-
-
-
-
3Gain-
FAM83G-
-
-
-
1Loss-
FAM84A-
-
-
-
1Loss-
FAM86C1-
-
-
-
1Loss-
FAM89B-
-
-
-
1Loss-
FAM98A-
-
-
-
1Loss-
FANCAp.P497L
Missense
SNP
0.625
2--
FANCD2-
-
-
-
1Loss-
FANCD2OS-
-
-
-
1Loss-
FANCF-
-
-
-
1Loss-
FANCL-
-
-
-
1Loss-
FANCM-
-
-
-
1Loss-
FANK1-
-
-
-
1Loss-
FAPp.S363L
Missense
SNP
0.821
2--
FAR1-
-
-
-
1Loss-
FAS-
-
-
-
1Loss-
FASTKD3-
-
-
-
1Loss-
FASTKD5-
-
-
-
1Loss-
FAT1-
-
-
-
1Loss-
FAT3p.S1490F
p.P3243S
Missense
Missense
SNP
SNP
0.503
0.470
1Loss-
FAT4-
-
-
-
1Loss-
FAU-
-
-
-
1Loss-
FBH1-
-
-
-
1Loss-
FBLIM1-
-
-
-
3Gain-
FBLN1-
-
-
-
3Gain-
FBLN2-
-
-
-
1Loss-
FBLN5-
-
-
-
1Loss-
FBXL15-
-
-
-
1Loss-
FBXL18-
-
-
-
3Gain-
FBXL2-
-
-
-
1Loss-
FBXL5-
-
-
-
1Loss-
FBXL7-
-
-
-
1Loss-
FBXO11-
-
-
-
1Loss-
FBXO16-
-
-
-
1Loss-
FBXO2-
-
-
-
3Gain-
FBXO24p.R415Q
Missense
SNP
0.584
2--
FBXO25-
-
-
-
1Loss-
FBXO3-
-
-
-
1Loss-
FBXO33-
-
-
-
1Loss-
FBXO34-
-
-
-
1Loss-
FBXO39-
-
-
-
1Loss-
FBXO4-
-
-
-
1Loss-
FBXO41-
-
-
-
1Loss-
FBXO42-
-
-
-
3Gain-
FBXO44-
-
-
-
3Gain-
FBXO48-
-
-
-
1Loss-
FBXO6-
-
-
-
3Gain-
FBXO7-
-
-
-
3Gain-
FBXO8-
-
-
-
1Loss-
FBXW10-
-
-
-
1Loss-
FBXW4-
-
-
-
1Loss-
FBXW7-
-
-
-
1Loss-
FCAR-
-
-
-
3Gain-
FCF1-
-
-
-
1Loss-
FCGR1A-
-
-
-
1Loss-
FCGR1B-
-
-
-
3Gain-
FCGR2Cp.S174F
Missense
SNP
0.748
2--
FCHSD2-
-
-
-
1Loss-
FCN3-
-
-
-
3Gain-
FCRL3p.P483S
Missense
SNP
0.317
2--
FCRL5p.G608E
p.E171K
Missense
Missense
SNP
SNP
0.645
0.606
2--
FDCSP-
-
-
-
1Loss-
FDFT1-
-
-
-
1Loss-
FDX1-
-
-
-
0Del-
FDXACB1-
-
-
-
0Del-
FEM1A-
-
-
-
1Loss-
FEN1-
-
-
-
1Loss-
FERD3L-
-
-
-
3Gain-
FERMT1-
-
-
-
1Loss-
FERMT2-
-
-
-
1Loss-
FERMT3-
-
-
-
1Loss-
FEZ1-
-
-
-
0Del-
FEZ2-
-
-
-
1Loss-
FFAR4-
-
-
-
1Loss-
FGA-
-
-
-
1Loss-
FGB-
-
-
-
1Loss-
FGD5-
-
-
-
1Loss-
FGD6-
-
-
-
1Loss-
FGF10-
-
-
-
1Loss-
FGF11-
-
-
-
1Loss-
FGF17-
-
-
-
1Loss-
FGF19-
-
-
-
1Loss-
FGF2-
-
-
-
1Loss-
FGF20p.G129E
Missense
SNP
0.506
1Loss-
FGF22-
-
-
-
1Loss-
FGF3-
-
-
-
1Loss-
FGF4-
-
-
-
1Loss-
FGF5-
-
-
-
1Loss-
FGF8-
-
-
-
1Loss-
FGF9-
-
-
-
1Loss-
FGFBP1-
-
-
-
1Loss-
FGFBP2-
-
-
-
1Loss-
FGFBP3-
-
-
-
1Loss-
FGFR1-
-
-
-
1Loss-
FGFR2p.E732K
Missense
SNP
0.529
1Loss-
FGFR3-
-
-
-
1Loss-
FGFRL1-
-
-
-
1Loss-
FGG-
-
-
-
1Loss-
FGGY-
-
-
-
3Gain-
FGL1-
-
-
-
1Loss-
FGRp.R91Q
Missense
SNP
0.495
3Gain-
FHAD1-
-
-
-
3Gain-
FHDC1-
-
-
-
1Loss-
FHL3-
-
-
-
3Gain-
FIBIN-
-
-
-
1Loss-
FIBP-
-
-
-
1Loss-
FIGLA-
-
-
-
1Loss-
FIGNL1-
-
-
-
3Gain-
FIGNL2-
-
-
-
1Loss-
FIP1L1-
-
-
-
1Loss-
FITM1-
-
-
-
1Loss-
FITM2-
-
-
-
3Gain-
FIZ1-
-
-
-
3Gain-
FJX1-
-
-
-
1Loss-
FKBP11-
-
-
-
1Loss-
FKBP14-
-
-
-
3Gain-
FKBP1A-
-
-
-
1Loss-
FKBP1B-
-
-
-
1Loss-
FKBP2-
-
-
-
1Loss-
FKBP3-
-
-
-
1Loss-
FKBP9-
-
-
-
3Gain-
FLCN-
-
-
-
1Loss-
FLI1-
-
-
-
0Del-
FLII-
-
-
-
1Loss-
FLOT2-
-
-
-
1Loss-
FLRT1-
-
-
-
1Loss-
FLRT3-
-
-
-
1Loss-
FLVCR2-
-
-
-
1Loss-
FMNL3-
-
-
-
1Loss-
FNBP1L-
-
-
-
3Gain-
FNBP4-
-
-
-
1Loss-
FNDC10-
-
-
-
3Gain-
FNDC11-
-
-
-
3Gain-
FNDC4-
-
-
-
1Loss-
FNDC5-
-
-
-
3Gain-
FNDC7-
-
-
-
3Gain-
FNDC8-
-
-
-
1Loss-
FNDC9p.P179S
Missense
SNP
0.692
2--
FNIP2-
-
-
-
1Loss-
FNTA-
-
-
-
1Loss-
FNTB-
-
-
-
1Loss-
FO393400.1-
-
-
-
3Gain-
FO681492.1-
-
-
-
1Loss-
FOLH1-
-
-
-
1Loss-
FOLR1-
-
-
-
1Loss-
FOLR2-
-
-
-
1Loss-
FOLR3-
-
-
-
1Loss-
FOS-
-
-
-
1Loss-
FOSL1-
-
-
-
1Loss-
FOSL2-
-
-
-
1Loss-
FOXA1-
-
-
-
1Loss-
FOXA2-
-
-
-
1Loss-
FOXD2-
-
-
-
3Gain-
FOXD3-
-
-
-
3Gain-
FOXE3-
-
-
-
3Gain-
FOXG1-
-
-
-
1Loss-
FOXI2-
-
-
-
1Loss-
FOXJ3-
-
-
-
3Gain-
FOXK1-
-
-
-
3Gain-
FOXN1-
-
-
-
1Loss-
FOXN2-
-
-
-
1Loss-
FOXN3-
-
-
-
1Loss-
FOXN4-
-
-
-
3Gain-
FOXO6-
-
-
-
3Gain-
FOXR1-
-
-
-
0Del-
FOXRED1-
-
-
-
0Del-
FOXRED2-
-
-
-
3Gain-
FOXS1-
-
-
-
3Gain-
FPGT-
-
-
-
3Gain-
FPGT-TNNI3Kp.H571Y
Missense
SNP
0.508
3Gain-
FRA10AC1-
-
-
-
1Loss-
FRAS1p.S3342L
Missense
SNP
1.000
1Loss-
FRAT1-
-
-
-
1Loss-
FRAT2-
-
-
-
1Loss-
FREM3-
-
-
-
1Loss-
FRG1-
-
-
-
1Loss-
FRG2-
-
-
-
1Loss-
FRG2B-
-
-
-
1Loss-
FRMD4A-
-
-
-
1Loss-
FRMD6-
-
-
-
1Loss-
FRMD8-
-
-
-
1Loss-
FRMPD2-
-
-
-
1Loss-
FRRS1-
-
-
-
3Gain-
FRS2-
-
-
-
1Loss-
FRYL-
-
-
-
1Loss-
FSCB-
-
-
-
1Loss-
FSCN1-
-
-
-
3Gain-
FSD1-
-
-
-
1Loss-
FSD2p.E445K
Missense
SNP
0.675
2--
FSHBp.S90F
Missense
SNP
0.542
1Loss-
FSHRp.S605F
Missense
SNP
0.493
1Loss-
FSTL3-
-
-
-
1Loss-
FSTL5-
-
-
-
1Loss-
FTH1-
-
-
-
1Loss-
FUBP1-
-
-
-
3Gain-
FUCA1-
-
-
-
3Gain-
FUOM-
-
-
-
1Loss-
FUT10-
-
-
-
1Loss-
FUT11-
-
-
-
1Loss-
FUT4-
-
-
-
1Loss-
FUT8-
-
-
-
1Loss-
FUT9p.R328Q
Missense
SNP
0.386
2--
FXR2-
-
-
-
1Loss-
FXYD2-
-
-
-
0Del-
FXYD4-
-
-
-
1Loss-
FXYD6-
-
-
-
0Del-
FXYD6-FXYD2-
-
-
-
0Del-
FYB1-
-
-
-
1Loss-
FYB2-
-
-
-
3Gain-
FZD3-
-
-
-
1Loss-
FZD4-
-
-
-
1Loss-
FZD8-
-
-
-
1Loss-
FZR1-
-
-
-
1Loss-
G2E3-
-
-
-
1Loss-
G3BP2-
-
-
-
1Loss-
GAB1-
-
-
-
1Loss-
GAB2-
-
-
-
1Loss-
GABARAP-
-
-
-
1Loss-
GABRA1-
-
-
-
3Gain-
GABRA2-
-
-
-
1Loss-
GABRA4-
-
-
-
1Loss-
GABRA6-
-
-
-
3Gain-
GABRB1p.D389N
Missense
SNP
1.000
1Loss-
GABRD-
-
-
-
3Gain-
GABRG1-
-
-
-
1Loss-
GABRG2-
-
-
-
3Gain-
GABRQp.E481K
Missense
SNP
0.655
NDND-
GAD2-
-
-
-
1Loss-
GADD45A-
-
-
-
3Gain-
GADD45B-
-
-
-
1Loss-
GADL1-
-
-
-
1Loss-
GAK-
-
-
-
1Loss-
GAL-
-
-
-
1Loss-
GAL3ST1-
-
-
-
3Gain-
GAL3ST3-
-
-
-
1Loss-
GALC-
-
-
-
1Loss-
GALE-
-
-
-
3Gain-
GALM-
-
-
-
1Loss-
GALNT14-
-
-
-
1Loss-
GALNT15-
-
-
-
1Loss-
GALNT16-
-
-
-
1Loss-
GALNT18-
-
-
-
1Loss-
GALNT6-
-
-
-
1Loss-
GALNT7-
-
-
-
1Loss-
GALNTL6-
-
-
-
1Loss-
GALP-
-
-
-
3Gain-
GALR3-
-
-
-
3Gain-
GAMT-
-
-
-
1Loss-
GANAB-
-
-
-
1Loss-
GAR1-
-
-
-
1Loss-
GAREM2-
-
-
-
1Loss-
GARS-
-
-
-
3Gain-
GAS2p.E257K
Missense
SNP
0.447
1Loss-
GAS2L2-
-
-
-
1Loss-
GAS2L3-
-
-
-
1Loss-
GAS7-
-
-
-
1Loss-
GATA3-
-
-
-
1Loss-
GATA4-
-
-
-
1Loss-
GATA5-
-
-
-
3Gain-
GATB-
-
-
-
1Loss-
GATD1-
-
-
-
1Loss-
GBA3-
-
-
-
1Loss-
GBF1-
-
-
-
1Loss-
GBP1p.R434C
Missense
SNP
0.521
3Gain-
GBP2-
-
-
-
3Gain-
GBP3-
-
-
-
3Gain-
GBP4-
-
-
-
3Gain-
GBP5p.R48C
Missense
SNP
0.537
3Gain-
GBP6-
-
-
-
3Gain-
GBP7-
-
-
-
3Gain-
GC-
-
-
-
1Loss-
GCAT-
-
-
-
3Gain-
GCFC2-
-
-
-
1Loss-
GCH1-
-
-
-
1Loss-
GCK-
-
-
-
3Gain-
GCKR-
-
-
-
1Loss-
GCLM-
-
-
-
3Gain-
GCNT7-
-
-
-
3Gain-
GDAP1L1-
-
-
-
3Gain-
GDAP2-
-
-
-
3Gain-
GDF10-
-
-
-
1Loss-
GDF11-
-
-
-
1Loss-
GDF2-
-
-
-
1Loss-
GDF5-
-
-
-
3Gain-
GDF7-
-
-
-
1Loss-
GDI2-
-
-
-
1Loss-
GDNF-
-
-
-
1Loss-
GDPD4-
-
-
-
1Loss-
GDPD5-
-
-
-
1Loss-
GEMIN2-
-
-
-
1Loss-
GEMIN4-
-
-
-
1Loss-
GEMIN6-
-
-
-
1Loss-
GEN1-
-
-
-
1Loss-
GET4-
-
-
-
3Gain-
GFI1-
-
-
-
3Gain-
GFPT1-
-
-
-
1Loss-
GFRA1-
-
-
-
1Loss-
GFRA2-
-
-
-
1Loss-
GFRA4-
-
-
-
1Loss-
GFRALp.K104N
p.A157T
Missense
Missense
SNP
SNP
0.268
0.648
2--
GGA1-
-
-
-
3Gain-
GGCT-
-
-
-
3Gain-
GGCX-
-
-
-
1Loss-
GGT6p.G286E
Missense
SNP
1.000
1Loss-
GGT7-
-
-
-
3Gain-
GGTLC1-
-
-
-
1Loss-
GHITM-
-
-
-
1Loss-
GHR-
-
-
-
1Loss-
GHRH-
-
-
-
3Gain-
GHRHR-
-
-
-
3Gain-
GHRL-
-
-
-
1Loss-
GID4-
-
-
-
1Loss-
GID8-
-
-
-
3Gain-
GIF-
-
-
-
1Loss-
GIMD1-
-
-
-
1Loss-
GINS1-
-
-
-
1Loss-
GINS4-
-
-
-
1Loss-
GIPC2-
-
-
-
3Gain-
GIPC3-
-
-
-
1Loss-
GIT1-
-
-
-
1Loss-
GJA3-
-
-
-
1Loss-
GJA4-
-
-
-
3Gain-
GJA9-
-
-
-
3Gain-
GJA9-MYCBP-
-
-
-
3Gain-
GJB2-
-
-
-
1Loss-
GJB3-
-
-
-
3Gain-
GJB4-
-
-
-
3Gain-
GJB5-
-
-
-
3Gain-
GJB6-
-
-
-
1Loss-
GJD4-
-
-
-
1Loss-
GK2-
-
-
-
1Loss-
GK3P-
-
-
-
1Loss-
GKN1-
-
-
-
1Loss-
GKN2-
-
-
-
1Loss-
GLB1-
-
-
-
1Loss-
GLB1L2-
-
-
-
0Del-
GLB1L3-
-
-
-
0Del-
GLCCI1-
-
-
-
3Gain-
GLI1-
-
-
-
1Loss-
GLI3-
-
-
-
3Gain-
GLIPR1-
-
-
-
1Loss-
GLIPR1L1-
-
-
-
1Loss-
GLIPR1L2-
-
-
-
1Loss-
GLIS1-
-
-
-
3Gain-
GLMN-
-
-
-
3Gain-
GLOD4-
-
-
-
1Loss-
GLP2R-
-
-
-
1Loss-
GLRA3-
-
-
-
1Loss-
GLRB-
-
-
-
1Loss-
GLRX3-
-
-
-
1Loss-
GLRX5-
-
-
-
1Loss-
GLS2-
-
-
-
1Loss-
GLTPD2-
-
-
-
1Loss-
GLUD1-
-
-
-
1Loss-
GLYAT-
-
-
-
1Loss-
GLYATL1-
-
-
-
1Loss-
GLYATL1B-
-
-
-
1Loss-
GLYATL2p.S24F
Missense
SNP
0.586
1Loss-
GMCL1-
-
-
-
1Loss-
GMEB1-
-
-
-
3Gain-
GMEB2-
-
-
-
3Gain-
GMFB-
-
-
-
1Loss-
GMPR2-
-
-
-
1Loss-
GNA11-
-
-
-
1Loss-
GNA12-
-
-
-
3Gain-
GNA15-
-
-
-
1Loss-
GNAI3-
-
-
-
3Gain-
GNAS-
-
-
-
3Gain-
GNAT2-
-
-
-
3Gain-
GNB1-
-
-
-
3Gain-
GNG12-
-
-
-
3Gain-
GNG2-
-
-
-
1Loss-
GNG3-
-
-
-
1Loss-
GNG5-
-
-
-
3Gain-
GNG7-
-
-
-
1Loss-
GNL2-
-
-
-
3Gain-
GNLY-
-
-
-
1Loss-
GNPDA2-
-
-
-
1Loss-
GNPNAT1-
-
-
-
1Loss-
GNPTAB-
-
-
-
3Gain-
GNRH1-
-
-
-
1Loss-
GNRH2-
-
-
-
1Loss-
GNRHR-
-
-
-
1Loss-
GNS-
-
-
-
1Loss-
GOLGA5-
-
-
-
1Loss-
GOLGA7-
-
-
-
1Loss-
GOLGA7B-
-
-
-
1Loss-
GOLGA8R-
-
-
-
1Loss-
GOLPH3-
-
-
-
1Loss-
GON7-
-
-
-
1Loss-
GOSR1-
-
-
-
1Loss-
GOT1-
-
-
-
1Loss-
GOT1L1-
-
-
-
1Loss-
GP1BA-
-
-
-
1Loss-
GP6-
-
-
-
3Gain-
GPAM-
-
-
-
1Loss-
GPAT3-
-
-
-
1Loss-
GPAT4-
-
-
-
1Loss-
GPATCH11-
-
-
-
1Loss-
GPATCH2L-
-
-
-
1Loss-
GPATCH3-
-
-
-
3Gain-
GPBP1L1-
-
-
-
3Gain-
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPCPD1-
-
-
-
1Loss-
GPD1-
-
-
-
1Loss-
GPD1L-
-
-
-
1Loss-
GPER1-
-
-
-
3Gain-
GPHA2-
-
-
-
1Loss-
GPHB5-
-
-
-
1Loss-
GPHN-
-
-
-
1Loss-
GPM6A-
-
-
-
1Loss-
GPN1-
-
-
-
1Loss-
GPN2-
-
-
-
3Gain-
GPNMB-
-
-
-
3Gain-
GPR132-
-
-
-
1Loss-
GPR135-
-
-
-
1Loss-
GPR137-
-
-
-
1Loss-
GPR137C-
-
-
-
1Loss-
GPR139p.R217C
Missense
SNP
0.323
2--
GPR141-
-
-
-
3Gain-
GPR146-
-
-
-
3Gain-
GPR152-
-
-
-
1Loss-
GPR153-
-
-
-
3Gain-
GPR157-
-
-
-
3Gain-
GPR158-
-
-
-
1Loss-
GPR174p.H82Y
Missense
SNP
1.000
NDND-
GPR182-
-
-
-
1Loss-
GPR26-
-
-
-
1Loss-
GPR3-
-
-
-
3Gain-
GPR33-
-
-
-
1Loss-
GPR61-
-
-
-
3Gain-
GPR65-
-
-
-
1Loss-
GPR68-
-
-
-
1Loss-
GPR75-
-
-
-
1Loss-
GPR75-ASB3-
-
-
-
1Loss-
GPR78-
-
-
-
1Loss-
GPR83-
-
-
-
1Loss-
GPR84-
-
-
-
1Loss-
GPR88-
-
-
-
3Gain-
GPRIN1p.P586S
Missense
SNP
0.367
2--
GPRIN2-
-
-
-
1Loss-
GPRIN3-
-
-
-
1Loss-
GPS2-
-
-
-
1Loss-
GPSM2-
-
-
-
3Gain-
GPX2-
-
-
-
1Loss-
GPX4-
-
-
-
1Loss-
GPX7-
-
-
-
3Gain-
GRAMD1B-
-
-
-
0Del-
GRAMD4-
-
-
-
3Gain-
GRAP-
-
-
-
1Loss-
GRAP2-
-
-
-
3Gain-
GRAPL-
-
-
-
1Loss-
GRASP-
-
-
-
1Loss-
GRB10-
-
-
-
3Gain-
GREB1-
-
-
-
1Loss-
GRHL1-
-
-
-
1Loss-
GRHL3-
-
-
-
3Gain-
GRIA2-
-
-
-
1Loss-
GRIA4-
-
-
-
0Del-
GRID1-
-
-
-
1Loss-
GRID2-
-
-
-
1Loss-
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIK3-
-
-
-
3Gain-
GRIK4-
-
-
-
0Del-
GRIN3B-
-
-
-
1Loss-
GRIP1p.R167*
Nonsense
SNP
0.992
1Loss-
GRIP2-
-
-
-
1Loss-
GRK2-
-
-
-
1Loss-
GRK4-
-
-
-
1Loss-
GRK5-
-
-
-
1Loss-
GRM1p.G43E
Missense
SNP
0.675
2--
GRM3p.G18R
p.E231K
Missense
Missense
SNP
SNP
0.374
0.397
2--
GRM5-
-
-
-
1Loss-
GRM6p.W213*
Nonsense
SNP
0.701
2--
GRM7-
-
-
-
1Loss-
GRM8p.E463K
p.E70K
Missense
Missense
SNP
SNP
0.673
0.588
2--
GRPEL1-
-
-
-
1Loss-
GRSF1-
-
-
-
1Loss-
GRXCR1p.R188Q
Missense
SNP
0.996
1Loss-
GSC-
-
-
-
1Loss-
GSDME-
-
-
-
3Gain-
GSG1L2-
-
-
-
1Loss-
GSKIP-
-
-
-
1Loss-
GSR-
-
-
-
1Loss-
GSS-
-
-
-
3Gain-
GSTCD-
-
-
-
1Loss-
GSTM2-
-
-
-
3Gain-
GSTM3-
-
-
-
3Gain-
GSTM4-
-
-
-
3Gain-
GSTM5-
-
-
-
3Gain-
GSTO1-
-
-
-
1Loss-
GSTO2-
-
-
-
1Loss-
GSTP1-
-
-
-
1Loss-
GSTZ1-
-
-
-
1Loss-
GSX2-
-
-
-
1Loss-
GTF2A1-
-
-
-
1Loss-
GTF2A1L-
-
-
-
1Loss-
GTF2B-
-
-
-
3Gain-
GTF2E1p.S333F
Missense
SNP
0.655
2--
GTF2E2-
-
-
-
1Loss-
GTF2H1-
-
-
-
1Loss-
GTF3C2-
-
-
-
1Loss-
GTPBP1-
-
-
-
3Gain-
GTPBP4-
-
-
-
1Loss-
GTSE1-
-
-
-
3Gain-
GTSF1-
-
-
-
1Loss-
GTSF1L-
-
-
-
3Gain-
GUCA2A-
-
-
-
3Gain-
GUCA2B-
-
-
-
3Gain-
GUCY1A1-
-
-
-
1Loss-
GUCY1A2-
-
-
-
0Del-
GUCY1B1-
-
-
-
1Loss-
GUCY2D-
-
-
-
1Loss-
GUF1-
-
-
-
1Loss-
GVQW3-
-
-
-
1Loss-
GXYLT1-
-
-
-
1Loss-
GYPA-
-
-
-
1Loss-
GYPB-
-
-
-
1Loss-
GYPE-
-
-
-
1Loss-
GZF1-
-
-
-
1Loss-
GZMB-
-
-
-
1Loss-
GZMH-
-
-
-
1Loss-
GZMM-
-
-
-
1Loss-
H1F0-
-
-
-
3Gain-
H1FNT-
-
-
-
1Loss-
H2AFV-
-
-
-
3Gain-
H2AFX-
-
-
-
0Del-
H2AFY2-
-
-
-
1Loss-
H2AFZ-
-
-
-
1Loss-
H6PD-
-
-
-
3Gain-
HAAOp.R175Q
Missense
SNP
0.556
1Loss-
HABP2-
-
-
-
1Loss-
HACD1-
-
-
-
1Loss-
HACL1-
-
-
-
1Loss-
HADH-
-
-
-
1Loss-
HADHA-
-
-
-
1Loss-
HADHB-
-
-
-
1Loss-
HAL-
-
-
-
1Loss-
HAND2-
-
-
-
1Loss-
HAO1-
-
-
-
1Loss-
HAO2-
-
-
-
3Gain-
HARBI1-
-
-
-
1Loss-
HASPIN-
-
-
-
1Loss-
HAUS3-
-
-
-
1Loss-
HAUS4-
-
-
-
1Loss-
HBB-
-
-
-
1Loss-
HBD-
-
-
-
1Loss-
HBE1-
-
-
-
1Loss-
HBG1-
-
-
-
1Loss-
HBG2-
-
-
-
1Loss-
HCK-
-
-
-
3Gain-
HCN1-
-
-
-
1Loss-
HCN2-
-
-
-
1Loss-
HCRTR1-
-
-
-
3Gain-
HDAC1-
-
-
-
3Gain-
HDAC10-
-
-
-
3Gain-
HDAC11-
-
-
-
1Loss-
HDAC7-
-
-
-
1Loss-
HDAC9-
-
-
-
3Gain-
HDGFL2-
-
-
-
1Loss-
HEATR4-
-
-
-
1Loss-
HEATR5A-
-
-
-
1Loss-
HEATR5Bp.H1630Y
Missense
SNP
0.483
1Loss-
HEATR9-
-
-
-
1Loss-
HECTD1-
-
-
-
1Loss-
HECTD2-
-
-
-
1Loss-
HECTD3-
-
-
-
3Gain-
HECTD4-
-
-
-
3Gain-
HECW1-
-
-
-
3Gain-
HELB-
-
-
-
1Loss-
HELLS-
-
-
-
1Loss-
HELQ-
-
-
-
1Loss-
HELT-
-
-
-
1Loss-
HELZ2-
-
-
-
3Gain-
HENMT1-
-
-
-
3Gain-
HEPACAM-
-
-
-
0Del-
HEPHp.E992K
Missense
SNP
1.000
NDND-
HEPHL1-
-
-
-
1Loss-
HEPN1-
-
-
-
0Del-
HERC3-
-
-
-
1Loss-
HERC4-
-
-
-
1Loss-
HERC5-
-
-
-
1Loss-
HERC6-
-
-
-
1Loss-
HERPUD2-
-
-
-
3Gain-
HES2-
-
-
-
3Gain-
HES3-
-
-
-
3Gain-
HES4-
-
-
-
3Gain-
HES5-
-
-
-
3Gain-
HES7-
-
-
-
1Loss-
HEYL-
-
-
-
3Gain-
HFM1-
-
-
-
3Gain-
HGFp.E199K
Missense
SNP
0.308
2--
HGFAC-
-
-
-
1Loss-
HGSNAT-
-
-
-
1Loss-
HHEX-
-
-
-
1Loss-
HHIP-
-
-
-
1Loss-
HHIPL1-
-
-
-
1Loss-
HHLA3-
-
-
-
3Gain-
HIBADH-
-
-
-
3Gain-
HIC1-
-
-
-
1Loss-
HIF1A-
-
-
-
1Loss-
HIF1AN-
-
-
-
1Loss-
HIGD1C-
-
-
-
1Loss-
HIKESHI-
-
-
-
1Loss-
HINFP-
-
-
-
0Del-
HIPK1-
-
-
-
3Gain-
HIPK3-
-
-
-
1Loss-
HIST1H3Bp.H114Y
Missense
SNP
0.655
2--
HIST2H2AA3-
-
-
-
1Loss-
HIST2H2AA4-
-
-
-
1Loss-
HIST2H2AC-
-
-
-
1Loss-
HIST2H2BE-
-
-
-
1Loss-
HIST2H2BF-
-
-
-
1Loss-
HIST2H3A-
-
-
-
1Loss-
HIST2H3C-
-
-
-
1Loss-
HIST2H3D-
-
-
-
1Loss-
HIST2H4A-
-
-
-
1Loss-
HIST2H4B-
-
-
-
1Loss-
HIST3H3p.E98K
Missense
SNP
0.600
2--
HIVEP3-
-
-
-
3Gain-
HK1-
-
-
-
1Loss-
HK2-
-
-
-
1Loss-
HKDC1-
-
-
-
1Loss-
HM13-
-
-
-
3Gain-
HMBOX1-
-
-
-
1Loss-
HMBS-
-
-
-
0Del-
HMG20B-
-
-
-
1Loss-
HMGA2-
-
-
-
1Loss-
HMGB2-
-
-
-
1Loss-
HMGB4-
-
-
-
3Gain-
HMGCLp.P99S
Missense
SNP
0.452
3Gain-
HMGCS1-
-
-
-
1Loss-
HMGCS2-
-
-
-
3Gain-
HMGN2-
-
-
-
3Gain-
HMGXB4-
-
-
-
3Gain-
HMMR-
-
-
-
3Gain-
HMOX1-
-
-
-
3Gain-
HMX1-
-
-
-
1Loss-
HMX2-
-
-
-
1Loss-
HMX3-
-
-
-
1Loss-
HNF4A-
-
-
-
3Gain-
HNRNPA1-
-
-
-
1Loss-
HNRNPA2B1-
-
-
-
3Gain-
HNRNPC-
-
-
-
1Loss-
HNRNPCL1-
-
-
-
3Gain-
HNRNPCL2-
-
-
-
3Gain-
HNRNPCL3-
-
-
-
3Gain-
HNRNPCL4-
-
-
-
3Gain-
HNRNPD-
-
-
-
1Loss-
HNRNPDL-
-
-
-
1Loss-
HNRNPF-
-
-
-
1Loss-
HNRNPH3-
-
-
-
1Loss-
HNRNPLL-
-
-
-
1Loss-
HNRNPR-
-
-
-
3Gain-
HNRNPUL2-
-
-
-
1Loss-
HNRNPUL2-BSCL2-
-
-
-
1Loss-
HOGA1-
-
-
-
1Loss-
HOMEZ-
-
-
-
1Loss-
HOOK1-
-
-
-
3Gain-
HOOK3-
-
-
-
1Loss-
HOPX-
-
-
-
1Loss-
HOXA1-
-
-
-
3Gain-
HOXA10-
-
-
-
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13-
-
-
-
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3-
-
-
-
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HOXC10-
-
-
-
1Loss-
HOXC11-
-
-
-
1Loss-
HOXC12-
-
-
-
1Loss-
HOXC13-
-
-
-
1Loss-
HOXC4-
-
-
-
1Loss-
HOXC5-
-
-
-
1Loss-
HOXC6-
-
-
-
1Loss-
HOXC8-
-
-
-
1Loss-
HOXC9-
-
-
-
1Loss-
HP1BP3-
-
-
-
3Gain-
HPCA-
-
-
-
3Gain-
HPCAL1-
-
-
-
1Loss-
HPCAL4-
-
-
-
3Gain-
HPDL-
-
-
-
3Gain-
HPF1-
-
-
-
1Loss-
HPGD-
-
-
-
1Loss-
HPGDS-
-
-
-
1Loss-
HPS1-
-
-
-
1Loss-
HPS5-
-
-
-
1Loss-
HPS6-
-
-
-
1Loss-
HPSE-
-
-
-
1Loss-
HPSE2-
-
-
-
1Loss-
HPX-
-
-
-
1Loss-
HR-
-
-
-
1Loss-
HRAS-
-
-
-
1Loss-
HRASLS2-
-
-
-
1Loss-
HRASLS5-
-
-
-
1Loss-
HRCp.G230R
Missense
SNP
0.786
2--
HRH1-
-
-
-
1Loss-
HRH3-
-
-
-
3Gain-
HS1BP3-
-
-
-
1Loss-
HS2ST1p.S172C
Missense
SNP
0.598
3Gain-
HS3ST1-
-
-
-
1Loss-
HS3ST2p.I225S
Missense
SNP
0.635
2--
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HS3ST4p.D363N
Missense
SNP
0.300
2--
HS3ST5p.D254N
Missense
SNP
0.616
2--
HSD17B11-
-
-
-
1Loss-
HSD17B12-
-
-
-
1Loss-
HSD17B13-
-
-
-
1Loss-
HSD17B6-
-
-
-
1Loss-
HSD3B1-
-
-
-
3Gain-
HSD3B2-
-
-
-
3Gain-
HSP90AA1-
-
-
-
1Loss-
HSPA12A-
-
-
-
1Loss-
HSPA12B-
-
-
-
1Loss-
HSPA14-
-
-
-
1Loss-
HSPA2-
-
-
-
1Loss-
HSPA4L-
-
-
-
1Loss-
HSPA8-
-
-
-
0Del-
HSPB11-
-
-
-
3Gain-
HSPB2-
-
-
-
0Del-
HSPB2-C11orf52-
-
-
-
0Del-
HSPB7-
-
-
-
3Gain-
HSPBP1-
-
-
-
3Gain-
HSPG2-
-
-
-
3Gain-
HTATIP2-
-
-
-
1Loss-
HTN1-
-
-
-
1Loss-
HTN3-
-
-
-
1Loss-
HTR1D-
-
-
-
3Gain-
HTR3A-
-
-
-
0Del-
HTR3B-
-
-
-
0Del-
HTR3Cp.Q83*
Nonsense
SNP
0.272
2--
HTR4p.S70L
Missense
SNP
0.705
2--
HTR6-
-
-
-
3Gain-
HTR7-
-
-
-
1Loss-
HTRA1-
-
-
-
1Loss-
HTRA2-
-
-
-
1Loss-
HTRA3-
-
-
-
1Loss-
HTRA4-
-
-
-
1Loss-
HTT-
-
-
-
1Loss-
HUS1-
-
-
-
3Gain-
HYDINp.E2557K
p.E54K
Missense
Missense
SNP
SNP
0.596
0.345
2--
HYI-
-
-
-
3Gain-
HYLS1-
-
-
-
0Del-
HYOU1-
-
-
-
0Del-
IAH1-
-
-
-
1Loss-
IBSP-
-
-
-
1Loss-
ICA1-
-
-
-
3Gain-
ICE1-
-
-
-
1Loss-
ICMT-
-
-
-
3Gain-
ID1-
-
-
-
3Gain-
ID2-
-
-
-
1Loss-
ID3-
-
-
-
3Gain-
IDE-
-
-
-
1Loss-
IDH3B-
-
-
-
1Loss-
IDI1-
-
-
-
1Loss-
IDI2-
-
-
-
1Loss-
IDO1-
-
-
-
1Loss-
IDO2-
-
-
-
1Loss-
IDUA-
-
-
-
1Loss-
IFFO2-
-
-
-
3Gain-
IFI27-
-
-
-
1Loss-
IFI27L1-
-
-
-
1Loss-
IFI27L2-
-
-
-
1Loss-
IFI44-
-
-
-
3Gain-
IFI44L-
-
-
-
3Gain-
IFI6-
-
-
-
3Gain-
IFIT1-
-
-
-
1Loss-
IFIT1B-
-
-
-
1Loss-
IFIT2-
-
-
-
1Loss-
IFIT3-
-
-
-
1Loss-
IFIT5-
-
-
-
1Loss-
IFITM1-
-
-
-
1Loss-
IFITM10-
-
-
-
1Loss-
IFITM2-
-
-
-
1Loss-
IFITM3-
-
-
-
1Loss-
IFITM5-
-
-
-
1Loss-
IFNG-
-
-
-
1Loss-
IFNLR1-
-
-
-
3Gain-
IFT172-
-
-
-
1Loss-
IFT20-
-
-
-
1Loss-
IFT27-
-
-
-
3Gain-
IFT43-
-
-
-
1Loss-
IFT46-
-
-
-
0Del-
IFT52-
-
-
-
3Gain-
IFT88-
-
-
-
1Loss-
IGF1-
-
-
-
3Gain-
IGF2-
-
-
-
1Loss-
IGF2BP3-
-
-
-
3Gain-
IGFALSp.E637K
Missense
SNP
0.622
2--
IGFBP1-
-
-
-
3Gain-
IGFBP3-
-
-
-
3Gain-
IGFBP6-
-
-
-
1Loss-
IGFBP7-
-
-
-
1Loss-
IGHD-
-
-
-
1Loss-
IGHMBP2-
-
-
-
1Loss-
IGHV3-72-
-
-
-
1Loss-
IGKV1D-33p.S9F
Missense
SNP
0.457
2--
IGSF21-
-
-
-
3Gain-
IGSF22-
-
-
-
1Loss-
IGSF3-
-
-
-
3Gain-
IGSF9B-
-
-
-
0Del-
IKBIP-
-
-
-
1Loss-
IKBKB-
-
-
-
1Loss-
IKZF1-
-
-
-
3Gain-
IKZF2p.H315Y
Missense
SNP
0.595
2--
IKZF4-
-
-
-
1Loss-
IKZF5-
-
-
-
1Loss-
IL10RA-
-
-
-
0Del-
IL11-
-
-
-
3Gain-
IL12RB2-
-
-
-
3Gain-
IL15-
-
-
-
1Loss-
IL15RA-
-
-
-
1Loss-
IL17D-
-
-
-
1Loss-
IL17RC-
-
-
-
1Loss-
IL17RE-
-
-
-
1Loss-
IL17REL-
-
-
-
3Gain-
IL18-
-
-
-
0Del-
IL18BP-
-
-
-
1Loss-
IL18RAPp.P102S
Missense
SNP
0.672
2--
IL1R1p.E220K
Missense
SNP
0.661
2--
IL1RL1p.E294K
Missense
SNP
0.631
2--
IL2-
-
-
-
1Loss-
IL21-
-
-
-
1Loss-
IL22-
-
-
-
1Loss-
IL22RA1-
-
-
-
3Gain-
IL23A-
-
-
-
1Loss-
IL23R-
-
-
-
3Gain-
IL25-
-
-
-
1Loss-
IL26-
-
-
-
1Loss-
IL2RA-
-
-
-
1Loss-
IL2RB-
-
-
-
3Gain-
IL5RA-
-
-
-
1Loss-
IL6-
-
-
-
3Gain-
IL7p.D46N
Missense
SNP
0.607
2--
IL7R-
-
-
-
1Loss-
ILK-
-
-
-
1Loss-
IMMP1L-
-
-
-
1Loss-
IMMT-
-
-
-
1Loss-
IMPG1p.G141E
Missense
SNP
0.358
2--
IMPG2p.G369E
Missense
SNP
0.593
2--
INA-
-
-
-
1Loss-
INCA1-
-
-
-
1Loss-
INCENP-
-
-
-
1Loss-
INF2-
-
-
-
1Loss-
ING2-
-
-
-
1Loss-
INHBA-
-
-
-
3Gain-
INHBC-
-
-
-
1Loss-
INHBE-
-
-
-
1Loss-
INKA2-
-
-
-
3Gain-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INO80B-
-
-
-
1Loss-
INO80B-WBP1-
-
-
-
1Loss-
INPP4B-
-
-
-
1Loss-
INPP5A-
-
-
-
1Loss-
INPP5B-
-
-
-
3Gain-
INPP5F-
-
-
-
1Loss-
INPP5J-
-
-
-
3Gain-
INPP5K-
-
-
-
1Loss-
INPPL1p.S857F
Missense
SNP
0.487
1Loss-
INS-
-
-
-
1Loss-
INS-IGF2-
-
-
-
1Loss-
INSC-
-
-
-
1Loss-
INSL5-
-
-
-
3Gain-
INSM1-
-
-
-
1Loss-
INSM2-
-
-
-
1Loss-
INSYN2-
-
-
-
1Loss-
INTS1-
-
-
-
3Gain-
INTS10-
-
-
-
1Loss-
INTS11-
-
-
-
3Gain-
INTS12-
-
-
-
1Loss-
INTS4-
-
-
-
1Loss-
INTS5-
-
-
-
1Loss-
INTS9-
-
-
-
1Loss-
INTU-
-
-
-
1Loss-
IPMK-
-
-
-
1Loss-
IPO13-
-
-
-
3Gain-
IPO4-
-
-
-
1Loss-
IPO7-
-
-
-
1Loss-
IPP-
-
-
-
3Gain-
IQCC-
-
-
-
3Gain-
IQCD-
-
-
-
3Gain-
IQCE-
-
-
-
3Gain-
IQSEC1-
-
-
-
1Loss-
IRAK2-
-
-
-
1Loss-
IRAK3-
-
-
-
1Loss-
IRAK4-
-
-
-
1Loss-
IRF2-
-
-
-
1Loss-
IRF2BPL-
-
-
-
1Loss-
IRF7-
-
-
-
1Loss-
IRF9-
-
-
-
1Loss-
IRX1-
-
-
-
1Loss-
IRX2-
-
-
-
1Loss-
IRX4-
-
-
-
1Loss-
ISCA2-
-
-
-
1Loss-
ISG15-
-
-
-
3Gain-
ISL1-
-
-
-
4Gain-
ISM1-
-
-
-
1Loss-
ISM2-
-
-
-
1Loss-
ISOC2-
-
-
-
3Gain-
ISPD-
-
-
-
3Gain-
ISX-
-
-
-
3Gain-
ITCH-
-
-
-
3Gain-
ITGA2p.D608N
Missense
SNP
0.619
2--
ITGA5-
-
-
-
1Loss-
ITGA7-
-
-
-
1Loss-
ITGA8-
-
-
-
1Loss-
ITGADp.A432V
Missense
SNP
0.389
2--
ITGAE-
-
-
-
1Loss-
ITGB1-
-
-
-
1Loss-
ITGB1BP1-
-
-
-
1Loss-
ITGB3BP-
-
-
-
3Gain-
ITGB7-
-
-
-
1Loss-
ITGB8-
-
-
-
3Gain-
ITIH2-
-
-
-
1Loss-
ITIH5p.S27F
Missense
SNP
0.439
1Loss-
ITPA-
-
-
-
1Loss-
ITPK1-
-
-
-
1Loss-
ITPR1-
-
-
-
1Loss-
ITPRID1-
-
-
-
3Gain-
ITPRIP-
-
-
-
1Loss-
ITSN2p.S615Y
Missense
SNP
0.656
1Loss-
IZUMO1R-
-
-
-
1Loss-
IZUMO4-
-
-
-
1Loss-
JADE1-
-
-
-
1Loss-
JADE3p.S817F
Missense
SNP
1.000
NDND-
JAG1-
-
-
-
1Loss-
JAG2-
-
-
-
1Loss-
JAGN1-
-
-
-
1Loss-
JAK1-
-
-
-
3Gain-
JAKMIP1p.S382F
Missense
SNP
1.000
1Loss-
JAKMIP3-
-
-
-
1Loss-
JAM3-
-
-
-
0Del-
JAML-
-
-
-
0Del-
JAZF1-
-
-
-
3Gain-
JCAD-
-
-
-
1Loss-
JCHAIN-
-
-
-
1Loss-
JDP2-
-
-
-
1Loss-
JHY-
-
-
-
0Del-
JKAMP-
-
-
-
1Loss-
JMJD1C-
-
-
-
1Loss-
JOSD1-
-
-
-
3Gain-
JPH2-
-
-
-
3Gain-
JPH4-
-
-
-
1Loss-
JRKL-
-
-
-
1Loss-
JSRP1-
-
-
-
1Loss-
JUN-
-
-
-
3Gain-
KANK4-
-
-
-
3Gain-
KANSL2-
-
-
-
1Loss-
KANSL3p.S149F
Missense
SNP
0.681
2--
KAT14-
-
-
-
1Loss-
KAT2B-
-
-
-
1Loss-
KAT5-
-
-
-
1Loss-
KAT6A-
-
-
-
1Loss-
KAT6B-
-
-
-
1Loss-
KAZALD1-
-
-
-
1Loss-
KAZN-
-
-
-
3Gain-
KBTBD11-
-
-
-
1Loss-
KBTBD11-OT1-
-
-
-
1Loss-
KBTBD2-
-
-
-
3Gain-
KBTBD3-
-
-
-
0Del-
KBTBD4-
-
-
-
1Loss-
KBTBD8p.Q256*
Nonsense
SNP
0.712
2--
KCMF1-
-
-
-
1Loss-
KCNA10-
-
-
-
3Gain-
KCNA2-
-
-
-
3Gain-
KCNA3-
-
-
-
3Gain-
KCNA4-
-
-
-
1Loss-
KCNAB2-
-
-
-
3Gain-
KCNAB3-
-
-
-
1Loss-
KCNB1-
-
-
-
3Gain-
KCNB2p.R91W
p.S350F
p.S774L
Missense
Missense
Missense
SNP
SNP
SNP
0.326
0.639
0.731
2--
KCNC1-
-
-
-
1Loss-
KCNC2-
-
-
-
1Loss-
KCNC4-
-
-
-
3Gain-
KCND2p.E492K
Missense
SNP
0.228
2--
KCND3p.G371E
Missense
SNP
0.456
3Gain-
KCNE3-
-
-
-
1Loss-
KCNF1-
-
-
-
1Loss-
KCNG1-
-
-
-
3Gain-
KCNG3-
-
-
-
1Loss-
KCNH3-
-
-
-
1Loss-
KCNH5-
-
-
-
1Loss-
KCNH8-
-
-
-
1Loss-
KCNIP2-
-
-
-
1Loss-
KCNIP4-
-
-
-
1Loss-
KCNJ1-
-
-
-
0Del-
KCNJ11-
-
-
-
1Loss-
KCNJ12-
-
-
-
1Loss-
KCNJ18-
-
-
-
1Loss-
KCNJ4-
-
-
-
3Gain-
KCNJ5-
-
-
-
0Del-
KCNJ8p.M147I
Missense
SNP
0.317
2--
KCNK10-
-
-
-
1Loss-
KCNK12-
-
-
-
1Loss-
KCNK13-
-
-
-
1Loss-
KCNK15-
-
-
-
3Gain-
KCNK18-
-
-
-
1Loss-
KCNK3-
-
-
-
1Loss-
KCNK4-
-
-
-
1Loss-
KCNK7-
-
-
-
1Loss-
KCNMA1-
-
-
-
1Loss-
KCNMB1p.E143K
Missense
SNP
0.659
2--
KCNMB4-
-
-
-
1Loss-
KCNQ1-
-
-
-
1Loss-
KCNQ2-
-
-
-
3Gain-
KCNQ4-
-
-
-
3Gain-
KCNS1-
-
-
-
3Gain-
KCNS3-
-
-
-
1Loss-
KCNT1p.M354I
Missense
SNP
0.359
2--
KCNU1p.P868S
Missense
SNP
0.460
1Loss-
KCTD11-
-
-
-
1Loss-
KCTD14-
-
-
-
1Loss-
KCTD16p.R410W
Missense
SNP
0.273
2--
KCTD17-
-
-
-
3Gain-
KCTD18p.R158K
Missense
SNP
0.360
2--
KCTD21-
-
-
-
1Loss-
KCTD8-
-
-
-
1Loss-
KCTD9-
-
-
-
1Loss-
KDELC2-
-
-
-
0Del-
KDELR2-
-
-
-
3Gain-
KDELR3-
-
-
-
3Gain-
KDF1-
-
-
-
3Gain-
KDM1A-
-
-
-
3Gain-
KDM2A-
-
-
-
1Loss-
KDM3A-
-
-
-
1Loss-
KDM3Bp.P1534S
Missense
SNP
0.330
2--
KDM4A-
-
-
-
3Gain-
KDM4B-
-
-
-
1Loss-
KDM4D-
-
-
-
1Loss-
KDM4E-
-
-
-
1Loss-
KDM4F-
-
-
-
1Loss-
KDM6B-
-
-
-
1Loss-
KDR-
-
-
-
1Loss-
KERA-
-
-
-
1Loss-
KHDRBS1-
-
-
-
3Gain-
KHK-
-
-
-
1Loss-
KHNYN-
-
-
-
1Loss-
KIAA0100-
-
-
-
1Loss-
KIAA0232-
-
-
-
1Loss-
KIAA0319L-
-
-
-
3Gain-
KIAA0391-
-
-
-
1Loss-
KIAA0586-
-
-
-
1Loss-
KIAA0753-
-
-
-
1Loss-
KIAA0895-
-
-
-
3Gain-
KIAA0930-
-
-
-
3Gain-
KIAA1107p.G385E
Missense
SNP
0.521
NDND-
KIAA1109-
-
-
-
1Loss-
KIAA1211-
-
-
-
1Loss-
KIAA1217-
-
-
-
1Loss-
KIAA1324-
-
-
-
3Gain-
KIAA1522-
-
-
-
3Gain-
KIAA1549L-
-
-
-
1Loss-
KIAA1755-
-
-
-
3Gain-
KIAA1841-
-
-
-
1Loss-
KIAA2013-
-
-
-
3Gain-
KIDINS220-
-
-
-
1Loss-
KIF11-
-
-
-
1Loss-
KIF13B-
-
-
-
1Loss-
KIF16B-
-
-
-
1Loss-
KIF17-
-
-
-
3Gain-
KIF18A-
-
-
-
1Loss-
KIF1B-
-
-
-
3Gain-
KIF1BP-
-
-
-
1Loss-
KIF1C-
-
-
-
1Loss-
KIF20B-
-
-
-
1Loss-
KIF21A-
-
-
-
1Loss-
KIF26A-
-
-
-
1Loss-
KIF2C-
-
-
-
3Gain-
KIF3B-
-
-
-
3Gain-
KIF3C-
-
-
-
1Loss-
KIF5A-
-
-
-
1Loss-
KIF5B-
-
-
-
1Loss-
KIN-
-
-
-
1Loss-
KIR2DL1-
-
-
-
3Gain-
KIR2DL3-
-
-
-
3Gain-
KIR2DL4-
-
-
-
3Gain-
KIR3DL1p.S181F
Missense
SNP
0.513
3Gain-
KIR3DL2-
-
-
-
3Gain-
KIR3DL3-
-
-
-
3Gain-
KIRREL3-
-
-
-
0Del-
KISS1R-
-
-
-
1Loss-
KIT-
-
-
-
1Loss-
KITLG-
-
-
-
1Loss-
KIZ-
-
-
-
1Loss-
KLB-
-
-
-
1Loss-
KLC1-
-
-
-
1Loss-
KLC2-
-
-
-
1Loss-
KLF11-
-
-
-
1Loss-
KLF16-
-
-
-
1Loss-
KLF17-
-
-
-
3Gain-
KLF3-
-
-
-
1Loss-
KLF6-
-
-
-
1Loss-
KLHDC1-
-
-
-
1Loss-
KLHDC2-
-
-
-
1Loss-
KLHDC7A-
-
-
-
3Gain-
KLHDC7B-
-
-
-
3Gain-
KLHL1-
-
-
-
3Gain-
KLHL17-
-
-
-
3Gain-
KLHL2-
-
-
-
1Loss-
KLHL21-
-
-
-
3Gain-
KLHL24p.D518N
Missense
SNP
0.562
2--
KLHL28-
-
-
-
1Loss-
KLHL29-
-
-
-
1Loss-
KLHL33-
-
-
-
1Loss-
KLHL35-
-
-
-
1Loss-
KLHL5-
-
-
-
1Loss-
KLHL7-
-
-
-
3Gain-
KLHL8-
-
-
-
1Loss-
KLKB1-
-
-
-
1Loss-
KLLN-
-
-
-
1Loss-
KMT2A-
-
-
-
0Del-
KMT2D-
-
-
-
1Loss-
KMT5B-
-
-
-
1Loss-
KMT5C-
-
-
-
3Gain-
KNCN-
-
-
-
3Gain-
KNDC1-
-
-
-
1Loss-
KPNA6-
-
-
-
3Gain-
KRBA2-
-
-
-
1Loss-
KRR1-
-
-
-
1Loss-
KRT1-
-
-
-
1Loss-
KRT18-
-
-
-
1Loss-
KRT2-
-
-
-
1Loss-
KRT3-
-
-
-
1Loss-
KRT4-
-
-
-
1Loss-
KRT5-
-
-
-
1Loss-
KRT6A-
-
-
-
1Loss-
KRT6B-
-
-
-
1Loss-
KRT6C-
-
-
-
1Loss-
KRT7-
-
-
-
1Loss-
KRT71p.S31F
Missense
SNP
1.000
1Loss-
KRT72-
-
-
-
1Loss-
KRT73-
-
-
-
1Loss-
KRT74-
-
-
-
1Loss-
KRT75-
-
-
-
1Loss-
KRT76-
-
-
-
1Loss-
KRT77-
-
-
-
1Loss-
KRT78-
-
-
-
1Loss-
KRT79-
-
-
-
1Loss-
KRT8-
-
-
-
1Loss-
KRT80-
-
-
-
1Loss-
KRT81-
-
-
-
1Loss-
KRT82-
-
-
-
1Loss-
KRT83-
-
-
-
1Loss-
KRT84-
-
-
-
1Loss-
KRT85-
-
-
-
1Loss-
KRT86-
-
-
-
1Loss-
KRTAP5-1-
-
-
-
1Loss-
KRTAP5-10-
-
-
-
1Loss-
KRTAP5-11-
-
-
-
1Loss-
KRTAP5-2-
-
-
-
1Loss-
KRTAP5-3-
-
-
-
1Loss-
KRTAP5-4-
-
-
-
1Loss-
KRTAP5-5-
-
-
-
1Loss-
KRTAP5-6-
-
-
-
1Loss-
KRTAP5-7-
-
-
-
1Loss-
KRTAP5-8-
-
-
-
1Loss-
KRTAP5-9-
-
-
-
1Loss-
KRTCAP3-
-
-
-
1Loss-
KSR1-
-
-
-
1Loss-
KTI12-
-
-
-
3Gain-
KTN1-
-
-
-
1Loss-
KYAT3-
-
-
-
3Gain-
L1TD1-
-
-
-
3Gain-
L2HGDH-
-
-
-
1Loss-
L3HYPDH-
-
-
-
1Loss-
L3MBTL1-
-
-
-
3Gain-
L3MBTL2-
-
-
-
3Gain-
L3MBTL4p.E609K
Missense
SNP
0.659
2--
LACRT-
-
-
-
1Loss-
LACTBL1-
-
-
-
3Gain-
LAIR1-
-
-
-
3Gain-
LAIR2-
-
-
-
3Gain-
LALBA-
-
-
-
1Loss-
LAMA5-
-
-
-
3Gain-
LAMP5-
-
-
-
1Loss-
LAMTOR1-
-
-
-
1Loss-
LAMTOR3-
-
-
-
1Loss-
LAMTOR5-
-
-
-
3Gain-
LANCL2-
-
-
-
3Gain-
LAP3-
-
-
-
1Loss-
LAPTM4A-
-
-
-
1Loss-
LAPTM5-
-
-
-
3Gain-
LARGE1-
-
-
-
3Gain-
LARGE2-
-
-
-
1Loss-
LARP1B-
-
-
-
1Loss-
LARP4-
-
-
-
1Loss-
LARP4B-
-
-
-
1Loss-
LARP7-
-
-
-
1Loss-
LATS2-
-
-
-
1Loss-
LAYN-
-
-
-
0Del-
LBH-
-
-
-
1Loss-
LBHD1-
-
-
-
1Loss-
LBP-
-
-
-
3Gain-
LBX1-
-
-
-
1Loss-
LBX2-
-
-
-
1Loss-
LCK-
-
-
-
3Gain-
LCLAT1-
-
-
-
1Loss-
LCOR-
-
-
-
1Loss-
LCORL-
-
-
-
1Loss-
LDAH-
-
-
-
1Loss-
LDB1-
-
-
-
1Loss-
LDB2-
-
-
-
1Loss-
LDB3-
-
-
-
1Loss-
LDHA-
-
-
-
1Loss-
LDHAL6A-
-
-
-
1Loss-
LDHC-
-
-
-
1Loss-
LDLRAD1-
-
-
-
3Gain-
LDLRAD2-
-
-
-
3Gain-
LDLRAD3-
-
-
-
1Loss-
LDLRAP1-
-
-
-
3Gain-
LEF1-
-
-
-
1Loss-
LEMD3-
-
-
-
1Loss-
LENG8-
-
-
-
3Gain-
LENG9-
-
-
-
3Gain-
LEPR-
-
-
-
3Gain-
LEPROT-
-
-
-
3Gain-
LEPROTL1-
-
-
-
1Loss-
LETM1-
-
-
-
1Loss-
LETM2-
-
-
-
1Loss-
LETMD1-
-
-
-
1Loss-
LEXM-
-
-
-
3Gain-
LFNG-
-
-
-
3Gain-
LGALS1-
-
-
-
3Gain-
LGALS12-
-
-
-
1Loss-
LGALS2-
-
-
-
3Gain-
LGALS3-
-
-
-
1Loss-
LGALS4p.G8S
Missense
SNP
0.392
2--
LGALS9-
-
-
-
1Loss-
LGALS9B-
-
-
-
1Loss-
LGALS9C-
-
-
-
1Loss-
LGALSL-
-
-
-
1Loss-
LGI1-
-
-
-
1Loss-
LGI2-
-
-
-
1Loss-
LGI3-
-
-
-
1Loss-
LGMN-
-
-
-
1Loss-
LGR4-
-
-
-
1Loss-
LGR5p.D366N
Missense
SNP
1.000
1Loss-
LHCGR-
-
-
-
1Loss-
LHFPL4-
-
-
-
1Loss-
LHPP-
-
-
-
1Loss-
LHX5-
-
-
-
3Gain-
LHX8-
-
-
-
3Gain-
LIAS-
-
-
-
1Loss-
LIF-
-
-
-
3Gain-
LIFR-
-
-
-
1Loss-
LIG3-
-
-
-
1Loss-
LILRA1-
-
-
-
3Gain-
LILRA2-
-
-
-
3Gain-
LILRA4-
-
-
-
3Gain-
LILRA5-
-
-
-
3Gain-
LILRA6-
-
-
-
3Gain-
LILRB1-
-
-
-
3Gain-
LILRB2-
-
-
-
3Gain-
LILRB3-
-
-
-
3Gain-
LILRB4-
-
-
-
3Gain-
LILRB5p.P77L
Missense
SNP
0.431
3Gain-
LIMA1-
-
-
-
1Loss-
LIMCH1-
-
-
-
1Loss-
LIME1-
-
-
-
3Gain-
LIMK2-
-
-
-
3Gain-
LIN28A-
-
-
-
3Gain-
LIN52-
-
-
-
1Loss-
LIN54-
-
-
-
1Loss-
LIN7A-
-
-
-
1Loss-
LIN7C-
-
-
-
1Loss-
LINGO3-
-
-
-
1Loss-
LIPA-
-
-
-
1Loss-
LIPF-
-
-
-
1Loss-
LIPJ-
-
-
-
1Loss-
LIPK-
-
-
-
1Loss-
LIPM-
-
-
-
1Loss-
LIPN-
-
-
-
1Loss-
LIPT2-
-
-
-
1Loss-
LIX1p.E250K
Missense
SNP
0.732
2--
LKAAEAR1-
-
-
-
3Gain-
LLGL1-
-
-
-
1Loss-
LLPH-
-
-
-
1Loss-
LMBR1L-
-
-
-
1Loss-
LMBRD2-
-
-
-
1Loss-
LMCD1-
-
-
-
1Loss-
LMF2-
-
-
-
3Gain-
LMLN2-
-
-
-
1Loss-
LMNB2-
-
-
-
1Loss-
LMNTD2-
-
-
-
1Loss-
LMO1-
-
-
-
1Loss-
LMO2-
-
-
-
1Loss-
LMO4-
-
-
-
3Gain-
LNX1-
-
-
-
1Loss-
LONRF1-
-
-
-
1Loss-
LOXL2-
-
-
-
1Loss-
LOXL3-
-
-
-
1Loss-
LOXL4-
-
-
-
1Loss-
LPAR3-
-
-
-
3Gain-
LPCAT1-
-
-
-
1Loss-
LPIN1-
-
-
-
1Loss-
LPIN3-
-
-
-
3Gain-
LPL-
-
-
-
1Loss-
LPXN-
-
-
-
1Loss-
LRAT-
-
-
-
1Loss-
LRBA-
-
-
-
1Loss-
LRFN4-
-
-
-
1Loss-
LRFN5-
-
-
-
1Loss-
LRG1-
-
-
-
1Loss-
LRIF1-
-
-
-
3Gain-
LRIG2p.P644S
Missense
SNP
0.539
3Gain-
LRIG3-
-
-
-
1Loss-
LRIT1-
-
-
-
1Loss-
LRIT2-
-
-
-
1Loss-
LRIT3-
-
-
-
1Loss-
LRMDA-
-
-
-
1Loss-
LRP1-
-
-
-
1Loss-
LRP10-
-
-
-
1Loss-
LRP1Bp.L4184F
Missense
SNP
0.254
2--
LRP2p.R4065Q
Missense
SNP
0.677
2--
LRP2BP-
-
-
-
1Loss-
LRP4-
-
-
-
1Loss-
LRP5-
-
-
-
1Loss-
LRP8-
-
-
-
3Gain-
LRPAP1-
-
-
-
1Loss-
LRPPRC-
-
-
-
1Loss-
LRR1-
-
-
-
1Loss-
LRRC10-
-
-
-
1Loss-
LRRC10B-
-
-
-
1Loss-
LRRC14B-
-
-
-
1Loss-
LRRC16Ap.P791S
Missense
SNP
0.636
NDND-
LRRC18-
-
-
-
1Loss-
LRRC20-
-
-
-
1Loss-
LRRC27-
-
-
-
1Loss-
LRRC32-
-
-
-
1Loss-
LRRC37B-
-
-
-
1Loss-
LRRC38-
-
-
-
3Gain-
LRRC39-
-
-
-
3Gain-
LRRC3B-
-
-
-
1Loss-
LRRC40-
-
-
-
3Gain-
LRRC41-
-
-
-
3Gain-
LRRC42-
-
-
-
3Gain-
LRRC47-
-
-
-
3Gain-
LRRC4C-
-
-
-
1Loss-
LRRC53-
-
-
-
3Gain-
LRRC55-
-
-
-
1Loss-
LRRC56-
-
-
-
1Loss-
LRRC63p.S412F
Missense
SNP
1.000
2--
LRRC66-
-
-
-
1Loss-
LRRC7p.E195K
p.G1464R
Missense
Missense
SNP
SNP
0.533
0.504
3Gain-
LRRC70p.P388S
Missense
SNP
0.262
2--
LRRC72-
-
-
-
3Gain-
LRRC74A-
-
-
-
1Loss-
LRRC75A-
-
-
-
1Loss-
LRRC8B-
-
-
-
3Gain-
LRRC8C-
-
-
-
3Gain-
LRRC8D-
-
-
-
3Gain-
LRRC9-
-
-
-
1Loss-
LRRIQ1-
-
-
-
1Loss-
LRRIQ3-
-
-
-
3Gain-
LRRK2-
-
-
-
1Loss-
LRRN1-
-
-
-
1Loss-
LRRN4-
-
-
-
1Loss-
LRRN4CL-
-
-
-
1Loss-
LRRTM1-
-
-
-
3Gain-
LRRTM3-
-
-
-
1Loss-
LRRTM4p.S243F
Missense
SNP
0.486
1Loss-
LRTOMT-
-
-
-
1Loss-
LSM1-
-
-
-
1Loss-
LSM10-
-
-
-
3Gain-
LSM14B-
-
-
-
3Gain-
LSM3-
-
-
-
1Loss-
LSM5-
-
-
-
3Gain-
LSM6-
-
-
-
1Loss-
LSM7-
-
-
-
1Loss-
LSP1-
-
-
-
1Loss-
LSRp.R194K
Missense
SNP
0.351
2--
LTA4H-
-
-
-
1Loss-
LTB4R-
-
-
-
1Loss-
LTB4R2-
-
-
-
1Loss-
LTBP1-
-
-
-
1Loss-
LTBP2-
-
-
-
1Loss-
LTBP3-
-
-
-
1Loss-
LTO1-
-
-
-
1Loss-
LUM-
-
-
-
1Loss-
LURAP1-
-
-
-
3Gain-
LUZP1-
-
-
-
3Gain-
LUZP2-
-
-
-
1Loss-
LYAR-
-
-
-
1Loss-
LYPLA2-
-
-
-
3Gain-
LYRM9-
-
-
-
1Loss-
LYVE1-
-
-
-
1Loss-
LYZ-
-
-
-
1Loss-
LYZL1-
-
-
-
1Loss-
LYZL2-
-
-
-
1Loss-
LYZL6-
-
-
-
1Loss-
LZIC-
-
-
-
3Gain-
LZTS1-
-
-
-
1Loss-
LZTS2-
-
-
-
1Loss-
LZTS3-
-
-
-
1Loss-
M1AP-
-
-
-
1Loss-
MAB21L2-
-
-
-
1Loss-
MAB21L3-
-
-
-
3Gain-
MACC1-
-
-
-
3Gain-
MACF1-
-
-
-
3Gain-
MACO1-
-
-
-
3Gain-
MACROD1-
-
-
-
1Loss-
MACROD2-
-
-
-
1Loss-
MAD1L1-
-
-
-
3Gain-
MAD2L1-
-
-
-
1Loss-
MAD2L2-
-
-
-
3Gain-
MADCAM1-
-
-
-
1Loss-
MADD-
-
-
-
1Loss-
MAEA-
-
-
-
1Loss-
MAFB-
-
-
-
3Gain-
MAFF-
-
-
-
3Gain-
MAFK-
-
-
-
3Gain-
MAGEA10p.P101S
Missense
SNP
0.629
NDND-
MAGEA8p.E137K
Missense
SNP
0.985
NDND-
MAGEC1p.D123N
Missense
SNP
0.292
NDND-
MAGI2p.G1191E
Missense
SNP
0.376
2--
MAGI3-
-
-
-
3Gain-
MAGOH-
-
-
-
3Gain-
MAJIN-
-
-
-
1Loss-
MAK16-
-
-
-
1Loss-
MALRD1-
-
-
-
1Loss-
MALSU1-
-
-
-
3Gain-
MAML2-
-
-
-
1Loss-
MAML3-
-
-
-
1Loss-
MAN1A2-
-
-
-
3Gain-
MAN1C1-
-
-
-
3Gain-
MAN2B2-
-
-
-
1Loss-
MANBA-
-
-
-
1Loss-
MANBAL-
-
-
-
3Gain-
MANEAL-
-
-
-
3Gain-
MAP1LC3A-
-
-
-
3Gain-
MAP2K2-
-
-
-
1Loss-
MAP2K3p.D250N
Missense
SNP
0.489
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP3K11-
-
-
-
1Loss-
MAP3K12-
-
-
-
1Loss-
MAP3K6-
-
-
-
3Gain-
MAP3K8-
-
-
-
1Loss-
MAP3K9-
-
-
-
1Loss-
MAP4K2-
-
-
-
1Loss-
MAP4K3-
-
-
-
1Loss-
MAP4K5-
-
-
-
1Loss-
MAP6-
-
-
-
1Loss-
MAP7D1-
-
-
-
3Gain-
MAP9-
-
-
-
1Loss-
MAPK10-
-
-
-
1Loss-
MAPK11-
-
-
-
3Gain-
MAPK12-
-
-
-
3Gain-
MAPK1IP1L-
-
-
-
1Loss-
MAPK7-
-
-
-
1Loss-
MAPK8-
-
-
-
1Loss-
MAPK8IP1-
-
-
-
1Loss-
MAPK8IP2-
-
-
-
3Gain-
MAPKAPK5-
-
-
-
3Gain-
MAPRE1-
-
-
-
3Gain-
MAPRE3-
-
-
-
1Loss-
MARCH1-
-
-
-
1Loss-
MARCH11-
-
-
-
1Loss-
MARCH5-
-
-
-
1Loss-
MARCH6-
-
-
-
1Loss-
MARCH8-
-
-
-
1Loss-
MARCH9-
-
-
-
1Loss-
MARCKSL1-
-
-
-
3Gain-
MARK2-
-
-
-
1Loss-
MARK3-
-
-
-
1Loss-
MARS-
-
-
-
1Loss-
MARVELD1-
-
-
-
1Loss-
MASP2-
-
-
-
3Gain-
MAST2-
-
-
-
3Gain-
MAST4p.S429F
Missense
SNP
0.571
2--
MASTL-
-
-
-
1Loss-
MAT1A-
-
-
-
1Loss-
MAT2A-
-
-
-
1Loss-
MAT2B-
-
-
-
3Gain-
MATK-
-
-
-
1Loss-
MATN1-
-
-
-
3Gain-
MATN3-
-
-
-
1Loss-
MATN4-
-
-
-
3Gain-
MAVS-
-
-
-
1Loss-
MAX-
-
-
-
1Loss-
MB-
-
-
-
3Gain-
MBD3-
-
-
-
1Loss-
MBD6-
-
-
-
1Loss-
MBIP-
-
-
-
1Loss-
MBL2-
-
-
-
1Loss-
MBOAT2-
-
-
-
1Loss-
MBOAT4-
-
-
-
1Loss-
MBOAT7-
-
-
-
3Gain-
MC3Rp.S4L
Missense
SNP
0.522
3Gain-
MCAM-
-
-
-
0Del-
MCAT-
-
-
-
3Gain-
MCEE-
-
-
-
1Loss-
MCFD2-
-
-
-
1Loss-
MCHR1-
-
-
-
3Gain-
MCHR2p.R140*
p.E14K
Nonsense
Missense
SNP
SNP
0.735
0.295
2--
MCM10-
-
-
-
1Loss-
MCM4-
-
-
-
1Loss-
MCM5-
-
-
-
3Gain-
MCM8-
-
-
-
1Loss-
MCMBP-
-
-
-
1Loss-
MCOLN2-
-
-
-
3Gain-
MCOLN3-
-
-
-
3Gain-
MCPH1-
-
-
-
1Loss-
MCRS1-
-
-
-
1Loss-
MCTP1p.E759K
Missense
SNP
0.462
2--
MCTP2p.W702*
Nonsense
SNP
0.663
2--
MCTS2P-
-
-
-
3Gain-
MCU-
-
-
-
1Loss-
MCUB-
-
-
-
1Loss-
MDGA2-
-
-
-
1Loss-
MDH1-
-
-
-
1Loss-
MDK-
-
-
-
1Loss-
MDM1-
-
-
-
1Loss-
MDM2-
-
-
-
1Loss-
MDP1-
-
-
-
1Loss-
ME3-
-
-
-
1Loss-
MEAF6-
-
-
-
3Gain-
MECOMp.A761V
Missense
SNP
0.221
2--
MECR-
-
-
-
3Gain-
MED10-
-
-
-
1Loss-
MED11-
-
-
-
1Loss-
MED16-
-
-
-
1Loss-
MED17-
-
-
-
1Loss-
MED18-
-
-
-
3Gain-
MED19-
-
-
-
1Loss-
MED28-
-
-
-
1Loss-
MED31-
-
-
-
1Loss-
MED6-
-
-
-
1Loss-
MED8-
-
-
-
3Gain-
MED9-
-
-
-
1Loss-
MEFVp.G236E
Missense
SNP
0.677
2--
MEGF6-
-
-
-
3Gain-
MEI1-
-
-
-
3Gain-
MEIG1-
-
-
-
1Loss-
MEIS1-
-
-
-
1Loss-
MEMO1-
-
-
-
1Loss-
MEN1-
-
-
-
1Loss-
MEOX2-
-
-
-
3Gain-
MEPE-
-
-
-
1Loss-
METAP1-
-
-
-
1Loss-
METAP2-
-
-
-
1Loss-
METTL1-
-
-
-
1Loss-
METTL14-
-
-
-
1Loss-
METTL15-
-
-
-
1Loss-
METTL16-
-
-
-
1Loss-
METTL17-
-
-
-
1Loss-
METTL25-
-
-
-
1Loss-
METTL3-
-
-
-
1Loss-
METTL6-
-
-
-
1Loss-
METTL7A-
-
-
-
1Loss-
METTL7B-
-
-
-
1Loss-
MEX3D-
-
-
-
1Loss-
MFAP2-
-
-
-
3Gain-
MFAP3L-
-
-
-
1Loss-
MFAP4-
-
-
-
1Loss-
MFHAS1-
-
-
-
1Loss-
MFN2-
-
-
-
3Gain-
MFNG-
-
-
-
3Gain-
MFRP-
-
-
-
0Del-
MFSD10-
-
-
-
1Loss-
MFSD12-
-
-
-
1Loss-
MFSD13A-
-
-
-
1Loss-
MFSD14A-
-
-
-
3Gain-
MFSD2A-
-
-
-
3Gain-
MFSD2B-
-
-
-
1Loss-
MFSD5-
-
-
-
1Loss-
MFSD6L-
-
-
-
1Loss-
MFSD8-
-
-
-
1Loss-
MGARP-
-
-
-
1Loss-
MGAT2-
-
-
-
1Loss-
MGAT3-
-
-
-
3Gain-
MGAT4C-
-
-
-
1Loss-
MGAT4D-
-
-
-
1Loss-
MGME1-
-
-
-
1Loss-
MGMT-
-
-
-
1Loss-
MGST2-
-
-
-
1Loss-
MIA2-
-
-
-
1Loss-
MIB2-
-
-
-
3Gain-
MICAL2-
-
-
-
1Loss-
MICALL1-
-
-
-
3Gain-
MICALL2-
-
-
-
3Gain-
MICU1-
-
-
-
1Loss-
MICU2-
-
-
-
1Loss-
MICU3-
-
-
-
1Loss-
MIDNp.D181N
Missense
SNP
1.000
1Loss-
MIEF1-
-
-
-
3Gain-
MIEF2-
-
-
-
1Loss-
MIER1p.P298S
Missense
SNP
0.486
3Gain-
MIER2-
-
-
-
1Loss-
MIGA1-
-
-
-
3Gain-
MIIP-
-
-
-
3Gain-
MINDY3-
-
-
-
1Loss-
MINDY4-
-
-
-
3Gain-
MINK1-
-
-
-
1Loss-
MINOS1-
-
-
-
3Gain-
MINOS1-NBL1-
-
-
-
3Gain-
MINPP1-
-
-
-
1Loss-
MIOS-
-
-
-
3Gain-
MIOX-
-
-
-
3Gain-
MIP-
-
-
-
1Loss-
MIPEP-
-
-
-
1Loss-
MIPOL1-
-
-
-
1Loss-
MIS12-
-
-
-
1Loss-
MIS18BP1-
-
-
-
1Loss-
MISP-
-
-
-
1Loss-
MKI67-
-
-
-
1Loss-
MKKS-
-
-
-
1Loss-
MKNK1-
-
-
-
3Gain-
MKNK2-
-
-
-
1Loss-
MKRN2-
-
-
-
1Loss-
MKRN2OS-
-
-
-
1Loss-
MKX-
-
-
-
1Loss-
MLC1-
-
-
-
3Gain-
MLH3-
-
-
-
1Loss-
MLLT10-
-
-
-
1Loss-
MMAA-
-
-
-
1Loss-
MMACHC-
-
-
-
3Gain-
MMD2-
-
-
-
3Gain-
MMEL1p.E208K
Missense
SNP
0.448
3Gain-
MMP1-
-
-
-
0Del-
MMP10-
-
-
-
0Del-
MMP12-
-
-
-
0Del-
MMP13-
-
-
-
0Del-
MMP14-
-
-
-
1Loss-
MMP16p.P435S
Missense
SNP
0.707
2--
MMP19-
-
-
-
1Loss-
MMP20-
-
-
-
0Del-
MMP21-
-
-
-
1Loss-
MMP23B-
-
-
-
3Gain-
MMP24-
-
-
-
3Gain-
MMP26-
-
-
-
1Loss-
MMP27-
-
-
-
0Del-
MMP28-
-
-
-
1Loss-
MMP3-
-
-
-
0Del-
MMP7-
-
-
-
0Del-
MMP8-
-
-
-
0Del-
MMP9-
-
-
-
3Gain-
MMRN1-
-
-
-
1Loss-
MMRN2-
-
-
-
1Loss-
MMS19-
-
-
-
1Loss-
MNAT1-
-
-
-
1Loss-
MND1-
-
-
-
1Loss-
MNT-
-
-
-
1Loss-
MOAP1-
-
-
-
1Loss-
MOB1A-
-
-
-
1Loss-
MOB1B-
-
-
-
1Loss-
MOB2-
-
-
-
1Loss-
MOB3A-
-
-
-
1Loss-
MOB3C-
-
-
-
3Gain-
MOCS3-
-
-
-
3Gain-
MOGAT2-
-
-
-
1Loss-
MOGS-
-
-
-
1Loss-
MOK-
-
-
-
1Loss-
MON2-
-
-
-
1Loss-
MORC1p.E816K
Missense
SNP
0.661
2--
MORC2-
-
-
-
3Gain-
MORN1-
-
-
-
3Gain-
MORN2-
-
-
-
1Loss-
MORN4-
-
-
-
1Loss-
MOV10-
-
-
-
3Gain-
MOV10L1-
-
-
-
3Gain-
MOXD1-
-
-
-
2-MOXD1--CLEC2D
MPDU1-
-
-
-
1Loss-
MPEG1-
-
-
-
1Loss-
MPHOSPH10-
-
-
-
1Loss-
MPHOSPH8-
-
-
-
1Loss-
MPHOSPH9p.S731L
Missense
SNP
1.000
2--
MPL-
-
-
-
3Gain-
MPLKIP-
-
-
-
3Gain-
MPND-
-
-
-
1Loss-
MPP5-
-
-
-
1Loss-
MPP6-
-
-
-
3Gain-
MPP7-
-
-
-
1Loss-
MPPED1-
-
-
-
3Gain-
MPPED2-
-
-
-
1Loss-
MPRIP-
-
-
-
1Loss-
MPST-
-
-
-
3Gain-
MPV17-
-
-
-
1Loss-
MPZL2-
-
-
-
0Del-
MPZL3-
-
-
-
0Del-
MRC1-
-
-
-
1Loss-
MRE11-
-
-
-
1Loss-
MRFAP1-
-
-
-
1Loss-
MRFAP1L1-
-
-
-
1Loss-
MRGBP-
-
-
-
3Gain-
MRGPRD-
-
-
-
1Loss-
MRGPRE-
-
-
-
1Loss-
MRGPRF-
-
-
-
1Loss-
MRGPRG-
-
-
-
1Loss-
MRGPRX1-
-
-
-
1Loss-
MRGPRX2-
-
-
-
1Loss-
MRGPRX3-
-
-
-
1Loss-
MRGPRX4-
-
-
-
1Loss-
MRM2-
-
-
-
3Gain-
MRM3-
-
-
-
1Loss-
MROH2B-
-
-
-
1Loss-
MROH7-
-
-
-
3Gain-
MROH7-TTC4-
-
-
-
3Gain-
MROH8-
-
-
-
3Gain-
MRPL1-
-
-
-
1Loss-
MRPL11-
-
-
-
1Loss-
MRPL16-
-
-
-
1Loss-
MRPL17-
-
-
-
1Loss-
MRPL19-
-
-
-
1Loss-
MRPL20-
-
-
-
3Gain-
MRPL21-
-
-
-
1Loss-
MRPL23-
-
-
-
1Loss-
MRPL32-
-
-
-
3Gain-
MRPL33-
-
-
-
1Loss-
MRPL35-
-
-
-
1Loss-
MRPL36-
-
-
-
1Loss-
MRPL37-
-
-
-
3Gain-
MRPL42-
-
-
-
1Loss-
MRPL43-
-
-
-
1Loss-
MRPL48-
-
-
-
1Loss-
MRPL49-
-
-
-
1Loss-
MRPL52-
-
-
-
1Loss-
MRPL53-
-
-
-
1Loss-
MRPL54-
-
-
-
1Loss-
MRPL57-
-
-
-
1Loss-
MRPS15-
-
-
-
3Gain-
MRPS16-
-
-
-
1Loss-
MRPS17-
-
-
-
3Gain-
MRPS18C-
-
-
-
1Loss-
MRPS24-
-
-
-
3Gain-
MRPS25-
-
-
-
1Loss-
MRPS26-
-
-
-
1Loss-
MRPS30-
-
-
-
1Loss-
MRTFA-
-
-
-
3Gain-
MRTO4-
-
-
-
3Gain-
MRVI1-
-
-
-
1Loss-
MS4A1-
-
-
-
1Loss-
MS4A10-
-
-
-
1Loss-
MS4A12-
-
-
-
1Loss-
MS4A13-
-
-
-
1Loss-
MS4A14-
-
-
-
1Loss-
MS4A15-
-
-
-
1Loss-
MS4A18-
-
-
-
1Loss-
MS4A2-
-
-
-
1Loss-
MS4A3-
-
-
-
1Loss-
MS4A4A-
-
-
-
1Loss-
MS4A4E-
-
-
-
1Loss-
MS4A5-
-
-
-
1Loss-
MS4A6A-
-
-
-
1Loss-
MS4A6E-
-
-
-
1Loss-
MS4A7-
-
-
-
1Loss-
MS4A8-
-
-
-
1Loss-
MSANTD1-
-
-
-
1Loss-
MSANTD2-
-
-
-
0Del-
MSANTD4-
-
-
-
0Del-
MSGN1-
-
-
-
1Loss-
MSH2-
-
-
-
1Loss-
MSH4-
-
-
-
3Gain-
MSH6-
-
-
-
1Loss-
MSMB-
-
-
-
1Loss-
MSMO1-
-
-
-
1Loss-
MSR1-
-
-
-
1Loss-
MSRA-
-
-
-
1Loss-
MSRB2-
-
-
-
1Loss-
MSRB3-
-
-
-
1Loss-
MSS51-
-
-
-
1Loss-
MSX1-
-
-
-
1Loss-
MTA1-
-
-
-
1Loss-
MTA2-
-
-
-
1Loss-
MTA3-
-
-
-
1Loss-
MTCH2-
-
-
-
1Loss-
MTERF2-
-
-
-
0Del-
MTF1-
-
-
-
3Gain-
MTF2-
-
-
-
3Gain-
MTFP1-
-
-
-
3Gain-
MTFR1L-
-
-
-
3Gain-
MTG1-
-
-
-
1Loss-
MTG2-
-
-
-
3Gain-
MTHFD1-
-
-
-
1Loss-
MTHFD2-
-
-
-
1Loss-
MTHFD2L-
-
-
-
1Loss-
MTHFR-
-
-
-
3Gain-
MTIF2-
-
-
-
1Loss-
MTMR12-
-
-
-
1Loss-
MTMR14-
-
-
-
1Loss-
MTMR2-
-
-
-
1Loss-
MTMR7-
-
-
-
1Loss-
MTMR9-
-
-
-
1Loss-
MTNR1A-
-
-
-
1Loss-
MTNR1B-
-
-
-
1Loss-
MTOR-
-
-
-
3Gain-
MTPAP-
-
-
-
1Loss-
MTRR-
-
-
-
1Loss-
MTTP-
-
-
-
1Loss-
MTURN-
-
-
-
3Gain-
MTUS1-
-
-
-
1Loss-
MUC15-
-
-
-
1Loss-
MUC16p.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
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
0.372
0.739
0.693
0.341
0.316
0.611
0.305
0.567
0.679
0.674
0.398
2--
MUC17p.E1137K
p.E2453K
p.E3990K
p.E4270K
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.663
0.355
0.337
0.591
2--
MUC19-
-
-
-
1Loss-
MUC2-
-
-
-
1Loss-
MUC5AC-
-
-
-
1Loss-
MUC5B-
-
-
-
1Loss-
MUC6-
-
-
-
1Loss-
MUC7p.S336L
Missense
SNP
0.996
1Loss-
MUCL1-
-
-
-
1Loss-
MUL1-
-
-
-
3Gain-
MUM1-
-
-
-
1Loss-
MUS81-
-
-
-
1Loss-
MUSKp.R521K
Missense
SNP
0.357
2--
MUTYH-
-
-
-
3Gain-
MXD1-
-
-
-
1Loss-
MXD4-
-
-
-
1Loss-
MXI1-
-
-
-
1Loss-
MXRA8-
-
-
-
3Gain-
MYBBP1A-
-
-
-
1Loss-
MYBL2-
-
-
-
3Gain-
MYBPC1-
-
-
-
3Gain-
MYBPC3-
-
-
-
1Loss-
MYBPHL-
-
-
-
3Gain-
MYC-
-
-
-
5Amp-
MYCBP-
-
-
-
3Gain-
MYCL-
-
-
-
3Gain-
MYCN-
-
-
-
1Loss-
MYDGF-
-
-
-
1Loss-
MYEOV-
-
-
-
1Loss-
MYF5-
-
-
-
1Loss-
MYF6-
-
-
-
1Loss-
MYH1-
-
-
-
1Loss-
MYH10-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH6-
-
-
-
1Loss-
MYH7-
-
-
-
1Loss-
MYH7B-
-
-
-
3Gain-
MYH8-
-
-
-
1Loss-
MYH9-
-
-
-
3Gain-
MYL5-
-
-
-
1Loss-
MYL6-
-
-
-
1Loss-
MYL6B-
-
-
-
1Loss-
MYL7-
-
-
-
3Gain-
MYL9-
-
-
-
3Gain-
MYLK2-
-
-
-
3Gain-
MYO10-
-
-
-
1Loss-
MYO15A-
-
-
-
1Loss-
MYO18A-
-
-
-
1Loss-
MYO19-
-
-
-
1Loss-
MYO1A-
-
-
-
1Loss-
MYO1C-
-
-
-
1Loss-
MYO1D-
-
-
-
1Loss-
MYO1G-
-
-
-
3Gain-
MYO1H-
-
-
-
3Gain-
MYO3A-
-
-
-
1Loss-
MYO7Ap.G1982E
Missense
SNP
0.485
1Loss-
MYO7Bp.P494L
Missense
SNP
0.339
2--
MYO9Ap.R1640C
Missense
SNP
0.650
2--
MYOCDp.E154K
Missense
SNP
1.000
1Loss-
MYOD1-
-
-
-
1Loss-
MYOF-
-
-
-
1Loss-
MYOM2-
-
-
-
1Loss-
MYOM3-
-
-
-
3Gain-
MYOZ1-
-
-
-
1Loss-
MYOZ2-
-
-
-
1Loss-
MYPN-
-
-
-
1Loss-
MYRF-
-
-
-
1Loss-
MYRFL-
-
-
-
1Loss-
MYSM1-
-
-
-
3Gain-
MYT1-
-
-
-
3Gain-
MYT1Lp.D236N
Missense
SNP
0.534
1Loss-
N4BP2-
-
-
-
1Loss-
NAA11-
-
-
-
1Loss-
NAA15-
-
-
-
1Loss-
NAA20-
-
-
-
1Loss-
NAA25-
-
-
-
3Gain-
NAA30-
-
-
-
1Loss-
NAA38-
-
-
-
1Loss-
NAA40-
-
-
-
1Loss-
NAAA-
-
-
-
1Loss-
NAALAD2-
-
-
-
1Loss-
NAALADL1-
-
-
-
1Loss-
NAB2-
-
-
-
1Loss-
NABP2-
-
-
-
1Loss-
NACA-
-
-
-
1Loss-
NACAD-
-
-
-
3Gain-
NADK-
-
-
-
3Gain-
NADK2-
-
-
-
1Loss-
NADSYN1-
-
-
-
1Loss-
NAF1-
-
-
-
1Loss-
NAGA-
-
-
-
3Gain-
NAGK-
-
-
-
1Loss-
NANOGNBp.E26K
Missense
SNP
0.344
2--
NANOS1-
-
-
-
1Loss-
NANP-
-
-
-
1Loss-
NAP1L1-
-
-
-
1Loss-
NAP1L4-
-
-
-
1Loss-
NAP1L5-
-
-
-
1Loss-
NAPB-
-
-
-
1Loss-
NARS2-
-
-
-
1Loss-
NASP-
-
-
-
3Gain-
NAT1-
-
-
-
1Loss-
NAT10-
-
-
-
1Loss-
NAT14-
-
-
-
3Gain-
NAT2-
-
-
-
1Loss-
NAT8-
-
-
-
1Loss-
NAT8L-
-
-
-
1Loss-
NATD1-
-
-
-
1Loss-
NAV2-
-
-
-
1Loss-
NAV3-
-
-
-
1Loss-
NBAS-
-
-
-
1Loss-
NBL1-
-
-
-
3Gain-
NBPF1-
-
-
-
3Gain-
NBPF19-
-
-
-
1Loss-
NBPF26-
-
-
-
3Gain-
NBPF3-
-
-
-
3Gain-
NBPF4-
-
-
-
3Gain-
NBPF6-
-
-
-
3Gain-
NBPF9-
-
-
-
1Loss-
NCAM1-
-
-
-
0Del-
NCANp.E34K
Missense
SNP
0.607
2--
NCAPD3-
-
-
-
0Del-
NCAPG-
-
-
-
1Loss-
NCAPH2-
-
-
-
3Gain-
NCBP3-
-
-
-
1Loss-
NCDN-
-
-
-
3Gain-
NCF4-
-
-
-
3Gain-
NCKAP1L-
-
-
-
1Loss-
NCKAP5p.E1853K
Missense
SNP
0.586
2--
NCKAP5L-
-
-
-
1Loss-
NCLN-
-
-
-
1Loss-
NCMAP-
-
-
-
3Gain-
NCOA1-
-
-
-
1Loss-
NCOA3-
-
-
-
3Gain-
NCOA4-
-
-
-
1Loss-
NCOA5-
-
-
-
3Gain-
NCOA6-
-
-
-
3Gain-
NCOR1-
-
-
-
1Loss-
NCR1-
-
-
-
3Gain-
NCR3LG1-
-
-
-
1Loss-
NDC1-
-
-
-
3Gain-
NDEL1-
-
-
-
1Loss-
NDNF-
-
-
-
1Loss-
NDRG2-
-
-
-
1Loss-
NDRG3-
-
-
-
3Gain-
NDST2-
-
-
-
1Loss-
NDST3-
-
-
-
1Loss-
NDST4-
-
-
-
1Loss-
NDUFA12-
-
-
-
1Loss-
NDUFA4-
-
-
-
3Gain-
NDUFA4L2-
-
-
-
1Loss-
NDUFA6-
-
-
-
3Gain-
NDUFAF5-
-
-
-
1Loss-
NDUFAF7-
-
-
-
1Loss-
NDUFB1-
-
-
-
1Loss-
NDUFB8-
-
-
-
1Loss-
NDUFC1-
-
-
-
1Loss-
NDUFC2-
-
-
-
1Loss-
NDUFC2-KCTD14-
-
-
-
1Loss-
NDUFS3-
-
-
-
1Loss-
NDUFS5-
-
-
-
3Gain-
NDUFS6-
-
-
-
1Loss-
NDUFS7-
-
-
-
1Loss-
NDUFS8-
-
-
-
1Loss-
NDUFV1-
-
-
-
1Loss-
NEBLp.E743K
Missense
SNP
0.607
1Loss-
NECAB3-
-
-
-
3Gain-
NECAP2-
-
-
-
3Gain-
NECTIN1-
-
-
-
0Del-
NEDD1-
-
-
-
1Loss-
NEDD8-
-
-
-
1Loss-
NEDD8-MDP1-
-
-
-
1Loss-
NEFLp.E371K
Missense
SNP
0.479
1Loss-
NEFM-
-
-
-
1Loss-
NEGR1-
-
-
-
3Gain-
NEIL2-
-
-
-
1Loss-
NEIL3-
-
-
-
1Loss-
NEK1-
-
-
-
1Loss-
NEK10-
-
-
-
1Loss-
NEK8-
-
-
-
1Loss-
NEK9-
-
-
-
1Loss-
NELFA-
-
-
-
1Loss-
NELFCD-
-
-
-
3Gain-
NELL1-
-
-
-
1Loss-
NELL2-
-
-
-
1Loss-
NEMF-
-
-
-
1Loss-
NEMP1-
-
-
-
1Loss-
NET1-
-
-
-
1Loss-
NETO1p.G463E
Missense
SNP
0.343
2--
NEU3-
-
-
-
1Loss-
NEURL1-
-
-
-
1Loss-
NEURL2-
-
-
-
3Gain-
NEURL4-
-
-
-
1Loss-
NEUROD4-
-
-
-
1Loss-
NEUROD6-
-
-
-
3Gain-
NEUROG2-
-
-
-
1Loss-
NEUROG3-
-
-
-
1Loss-
NEXNp.E294K
Missense
SNP
0.436
3Gain-
NF1-
-
-
-
1Loss-
NFAM1-
-
-
-
3Gain-
NFATC2-
-
-
-
3Gain-
NFATC4-
-
-
-
1Loss-
NFE2-
-
-
-
1Loss-
NFE2L3-
-
-
-
3Gain-
NFIA-
-
-
-
3Gain-
NFIC-
-
-
-
1Loss-
NFIXp.R88C
Missense
SNP
0.361
2--
NFKB1-
-
-
-
1Loss-
NFKB2-
-
-
-
1Loss-
NFKBIA-
-
-
-
1Loss-
NFKBIEp.G34E
Missense
SNP
0.722
2--
NFRKB-
-
-
-
0Del-
NFS1-
-
-
-
3Gain-
NFU1-
-
-
-
1Loss-
NFXL1-
-
-
-
1Loss-
NFYC-
-
-
-
3Gain-
NGB-
-
-
-
1Loss-
NGDN-
-
-
-
1Loss-
NGF-
-
-
-
3Gain-
NGLY1-
-
-
-
1Loss-
NHLH2-
-
-
-
3Gain-
NHLRC2-
-
-
-
1Loss-
NID2-
-
-
-
1Loss-
NIM1K-
-
-
-
1Loss-
NIN-
-
-
-
1Loss-
NINL-
-
-
-
1Loss-
NIPAL1-
-
-
-
1Loss-
NIPAL3-
-
-
-
3Gain-
NIPBL-
-
-
-
1Loss-
NIPSNAP2-
-
-
-
3Gain-
NKAIN1-
-
-
-
3Gain-
NKAIN4-
-
-
-
3Gain-
NKAPD1-
-
-
-
0Del-
NKD2p.S158L
Missense
SNP
0.562
1Loss-
NKIRAS1-
-
-
-
1Loss-
NKX1-1-
-
-
-
1Loss-
NKX1-2-
-
-
-
1Loss-
NKX2-1-
-
-
-
1Loss-
NKX2-2-
-
-
-
1Loss-
NKX2-3-
-
-
-
1Loss-
NKX2-4-
-
-
-
1Loss-
NKX2-6-
-
-
-
1Loss-
NKX2-8-
-
-
-
1Loss-
NKX3-1-
-
-
-
1Loss-
NKX3-2-
-
-
-
1Loss-
NKX6-1-
-
-
-
1Loss-
NKX6-2-
-
-
-
1Loss-
NKX6-3-
-
-
-
1Loss-
NLE1-
-
-
-
1Loss-
NLGN2-
-
-
-
1Loss-
NLK-
-
-
-
1Loss-
NLRC4-
-
-
-
1Loss-
NLRP1-
-
-
-
1Loss-
NLRP10p.D451N
Missense
SNP
0.496
1Loss-
NLRP11-
-
-
-
3Gain-
NLRP13p.R842Q
Missense
SNP
0.500
3Gain-
NLRP14-
-
-
-
1Loss-
NLRP2p.G151E
Missense
SNP
0.428
3Gain-
NLRP4p.P563S
Missense
SNP
0.470
3Gain-
NLRP5-
-
-
-
3Gain-
NLRP6-
-
-
-
1Loss-
NLRP7p.G183E
Missense
SNP
0.520
3Gain-
NLRP8p.G172E
Missense
SNP
0.483
3Gain-
NLRP9-
-
-
-
3Gain-
NLRX1-
-
-
-
0Del-
NME2-
-
-
-
NDNDNME2--RN7SL1
NME8-
-
-
-
3Gain-
NMNAT1-
-
-
-
3Gain-
NMRK2-
-
-
-
1Loss-
NMT2-
-
-
-
1Loss-
NMU-
-
-
-
1Loss-
NNAT-
-
-
-
3Gain-
NNMT-
-
-
-
0Del-
NNT-
-
-
-
1Loss-
NOA1-
-
-
-
1Loss-
NOC2L-
-
-
-
3Gain-
NOC3L-
-
-
-
1Loss-
NOCT-
-
-
-
1Loss-
NOD1-
-
-
-
3Gain-
NODAL-
-
-
-
1Loss-
NOL10-
-
-
-
1Loss-
NOL12-
-
-
-
3Gain-
NOL4L-
-
-
-
3Gain-
NOL9-
-
-
-
3Gain-
NOLC1-
-
-
-
1Loss-
NOP14-
-
-
-
1Loss-
NOP56-
-
-
-
1Loss-
NOP9-
-
-
-
1Loss-
NOS2-
-
-
-
1Loss-
NOS3p.P851L
Missense
SNP
0.517
2--
NOTCH2-
-
-
-
3Gain-
NOTCH3p.P2201S
Missense
SNP
0.354
2--
NOTO-
-
-
-
1Loss-
NOVA1-
-
-
-
1Loss-
NOX4-
-
-
-
1Loss-
NOXRED1-
-
-
-
1Loss-
NPAP1p.G1072E
Missense
SNP
0.295
2--
NPAS3-
-
-
-
1Loss-
NPAS4-
-
-
-
1Loss-
NPAT-
-
-
-
0Del-
NPBWR1-
-
-
-
1Loss-
NPBWR2-
-
-
-
3Gain-
NPC1L1-
-
-
-
3Gain-
NPC2-
-
-
-
1Loss-
NPEPL1-
-
-
-
3Gain-
NPEPPSp.G169V
Missense
SNP
0.599
2--
NPFF-
-
-
-
1Loss-
NPFFR1-
-
-
-
1Loss-
NPFFR2-
-
-
-
1Loss-
NPHP4-
-
-
-
3Gain-
NPHS1p.G779R
Missense
SNP
0.327
2--
NPM2-
-
-
-
1Loss-
NPM3-
-
-
-
1Loss-
NPNT-
-
-
-
1Loss-
NPPA-
-
-
-
3Gain-
NPPB-
-
-
-
3Gain-
NPR3-
-
-
-
1Loss-
NPS-
-
-
-
1Loss-
NPSR1p.G38R
Missense
SNP
0.466
3Gain-
NPTXRp.A438V
Missense
SNP
1.000
3Gain-
NPVF-
-
-
-
3Gain-
NPY-
-
-
-
3Gain-
NPY1R-
-
-
-
1Loss-
NPY2Rp.P182S
Missense
SNP
0.995
1Loss-
NPY4R-
-
-
-
1Loss-
NPY4R2-
-
-
-
1Loss-
NPY5R-
-
-
-
1Loss-
NR0B2-
-
-
-
3Gain-
NR1D2-
-
-
-
1Loss-
NR1H3-
-
-
-
1Loss-
NR1H4-
-
-
-
1Loss-
NR2C1-
-
-
-
1Loss-
NR2C2-
-
-
-
1Loss-
NR3C2-
-
-
-
1Loss-
NR4A1-
-
-
-
1Loss-
NRAP-
-
-
-
1Loss-
NRAS-
-
-
-
3Gain-
NRBF2-
-
-
-
1Loss-
NRBP1-
-
-
-
1Loss-
NRDC-
-
-
-
3Gain-
NRDE2-
-
-
-
1Loss-
NREPp.E14K
Missense
SNP
0.682
2--
NRG1-
-
-
-
1Loss-
NRG3-
-
-
-
1Loss-
NRGN-
-
-
-
0Del-
NRIP3-
-
-
-
1Loss-
NRL-
-
-
-
1Loss-
NRP1-
-
-
-
1Loss-
NRSN2-
-
-
-
1Loss-
NRXN1-
-
-
-
1Loss-
NRXN2-
-
-
-
1Loss-
NRXN3-
-
-
-
1Loss-
NSD2-
-
-
-
1Loss-
NSD3-
-
-
-
1Loss-
NSFL1C-
-
-
-
1Loss-
NSG1-
-
-
-
1Loss-
NSMCE4A-
-
-
-
1Loss-
NSRP1-
-
-
-
1Loss-
NSUN2-
-
-
-
1Loss-
NSUN4-
-
-
-
3Gain-
NSUN6-
-
-
-
1Loss-
NSUN7-
-
-
-
1Loss-
NT5C1A-
-
-
-
3Gain-
NT5C1B-
-
-
-
1Loss-
NT5C1B-RDH14-
-
-
-
1Loss-
NT5C2-
-
-
-
1Loss-
NT5C3A-
-
-
-
3Gain-
NT5DC3-
-
-
-
3Gain-
NT5M-
-
-
-
1Loss-
NTM-
-
-
-
0Del-
NTN1-
-
-
-
1Loss-
NTN4-
-
-
-
1Loss-
NTNG1-
-
-
-
3Gain-
NTRK2p.S217F
Missense
SNP
0.343
2--
NTS-
-
-
-
1Loss-
NTSR1-
-
-
-
3Gain-
NTSR2-
-
-
-
1Loss-
NUAK1-
-
-
-
0Del-
NUBPL-
-
-
-
1Loss-
NUCB2-
-
-
-
1Loss-
NUDC-
-
-
-
3Gain-
NUDCD2-
-
-
-
3Gain-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT13-
-
-
-
1Loss-
NUDT14-
-
-
-
1Loss-
NUDT18-
-
-
-
1Loss-
NUDT22-
-
-
-
1Loss-
NUDT4-
-
-
-
1Loss-
NUDT5-
-
-
-
1Loss-
NUDT6-
-
-
-
1Loss-
NUDT8-
-
-
-
1Loss-
NUDT9-
-
-
-
1Loss-
NUFIP2-
-
-
-
1Loss-
NUGGC-
-
-
-
1Loss-
NUMA1-
-
-
-
1Loss-
NUMB-
-
-
-
1Loss-
NUP107-
-
-
-
1Loss-
NUP155-
-
-
-
1Loss-
NUP160-
-
-
-
1Loss-
NUP210-
-
-
-
1Loss-
NUP37-
-
-
-
3Gain-
NUP50-
-
-
-
3Gain-
NUP54-
-
-
-
1Loss-
NUP88-
-
-
-
1Loss-
NUP98-
-
-
-
1Loss-
NUPL2-
-
-
-
3Gain-
NUPR2-
-
-
-
3Gain-
NUTM1p.D757N
Missense
SNP
0.319
2--
NWD1p.W1155*
Nonsense
SNP
0.309
2--
NWD2-
-
-
-
1Loss-
NXF1-
-
-
-
1Loss-
NXN-
-
-
-
1Loss-
NXPE1-
-
-
-
0Del-
NXPE2-
-
-
-
0Del-
NXPE4-
-
-
-
0Del-
NXPH1-
-
-
-
3Gain-
NXPH4-
-
-
-
1Loss-
NXT1-
-
-
-
1Loss-
NYAP2p.S528L
Missense
SNP
0.289
2--
NYNRIN-
-
-
-
1Loss-
OAF-
-
-
-
0Del-
OAS1-
-
-
-
3Gain-
OAS2-
-
-
-
3Gain-
OAS3-
-
-
-
3Gain-
OAT-
-
-
-
1Loss-
OAZ1-
-
-
-
1Loss-
OBSCNp.S22L
Missense
SNP
0.321
2--
OCIAD1-
-
-
-
1Loss-
OCIAD2-
-
-
-
1Loss-
OCM-
-
-
-
3Gain-
OCSTAMPp.G498E
Missense
SNP
0.537
3Gain-
ODAM-
-
-
-
1Loss-
ODAPH-
-
-
-
1Loss-
ODC1-
-
-
-
1Loss-
ODF2L-
-
-
-
3Gain-
ODF3-
-
-
-
1Loss-
ODF3B-
-
-
-
3Gain-
ODF3L2-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
OGA-
-
-
-
1Loss-
OGDH-
-
-
-
3Gain-
OGDHLp.D465N
p.E286K
Missense
Missense
SNP
SNP
0.456
0.438
1Loss-
OGFR-
-
-
-
3Gain-
OGG1-
-
-
-
1Loss-
OIT3-
-
-
-
1Loss-
OLAH-
-
-
-
1Loss-
OLFM3-
-
-
-
3Gain-
OLFM4-
-
-
-
3Gain-
OLFML1-
-
-
-
1Loss-
OLFML3-
-
-
-
3Gain-
OMA1-
-
-
-
3Gain-
OMG-
-
-
-
1Loss-
OMP-
-
-
-
1Loss-
ONECUT3-
-
-
-
1Loss-
OOSP1-
-
-
-
1Loss-
OOSP2-
-
-
-
1Loss-
OPALIN-
-
-
-
1Loss-
OPCML-
-
-
-
0Del-
OPN4-
-
-
-
1Loss-
OPRD1-
-
-
-
3Gain-
OPRL1-
-
-
-
3Gain-
OPRPN-
-
-
-
1Loss-
OPTN-
-
-
-
1Loss-
OR10A2-
-
-
-
1Loss-
OR10A3-
-
-
-
1Loss-
OR10A4-
-
-
-
1Loss-
OR10A5p.P155S
Missense
SNP
0.458
1Loss-
OR10A6p.M302I
Missense
SNP
0.440
1Loss-
OR10A7-
-
-
-
1Loss-
OR10AD1-
-
-
-
1Loss-
OR10AG1-
-
-
-
1Loss-
OR10D3-
-
-
-
0Del-
OR10G2-
-
-
-
1Loss-
OR10G3-
-
-
-
1Loss-
OR10G4-
-
-
-
0Del-
OR10G7-
-
-
-
0Del-
OR10G8p.W172*
Nonsense
SNP
1.000
0Del-
OR10G9-
-
-
-
0Del-
OR10H4p.H246Y
Missense
SNP
0.632
2--
OR10P1-
-
-
-
1Loss-
OR10Q1-
-
-
-
1Loss-
OR10S1-
-
-
-
0Del-
OR10V1-
-
-
-
1Loss-
OR10W1-
-
-
-
1Loss-
OR11G2-
-
-
-
1Loss-
OR11H4p.R132Q
Missense
SNP
1.000
1Loss-
OR11H6-
-
-
-
1Loss-
OR13A1-
-
-
-
1Loss-
OR13C4p.G285E
Missense
SNP
0.619
2--
OR13F1p.E159K
Missense
SNP
0.298
2--
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1G1-
-
-
-
1Loss-
OR1L3p.M296I
Missense
SNP
0.655
2--
OR1S1p.S85F
Missense
SNP
0.524
1Loss-
OR1S2-
-
-
-
1Loss-
OR2A25p.H158Y
Missense
SNP
0.284
2--
OR2AG1p.S93F
Missense
SNP
0.456
1Loss-
OR2AG2-
-
-
-
1Loss-
OR2AP1-
-
-
-
1Loss-
OR2AT4-
-
-
-
1Loss-
OR2B6p.S67L
p.H176Y
Missense
Missense
SNP
SNP
0.653
0.733
2--
OR2D2-
-
-
-
1Loss-
OR2D3-
-
-
-
1Loss-
OR2L3p.L47F
Missense
SNP
0.343
2--
OR2T10p.S264F
Missense
SNP
0.610
2--
OR2T12p.G86R
Missense
SNP
0.333
2--
OR2T2p.S154F
Missense
SNP
0.147
2--
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR4A15-
-
-
-
1Loss-
OR4A16-
-
-
-
1Loss-
OR4A47-
-
-
-
1Loss-
OR4A5p.H173Y
Missense
SNP
0.503
1Loss-
OR4B1-
-
-
-
1Loss-
OR4C11-
-
-
-
1Loss-
OR4C12-
-
-
-
1Loss-
OR4C13-
-
-
-
1Loss-
OR4C15-
-
-
-
1Loss-
OR4C16p.S150F
Missense
SNP
0.518
1Loss-
OR4C3-
-
-
-
1Loss-
OR4C46-
-
-
-
1Loss-
OR4C5-
-
-
-
1Loss-
OR4C6-
-
-
-
1Loss-
OR4D10-
-
-
-
1Loss-
OR4D11-
-
-
-
1Loss-
OR4D5-
-
-
-
0Del-
OR4D6-
-
-
-
1Loss-
OR4D9-
-
-
-
1Loss-
OR4E1-
-
-
-
1Loss-
OR4E2-
-
-
-
1Loss-
OR4F17-
-
-
-
1Loss-
OR4F5-
-
-
-
3Gain-
OR4K1-
-
-
-
1Loss-
OR4K13-
-
-
-
1Loss-
OR4K14-
-
-
-
1Loss-
OR4K15-
-
-
-
1Loss-
OR4K17-
-
-
-
1Loss-
OR4K2-
-
-
-
1Loss-
OR4K5-
-
-
-
1Loss-
OR4L1-
-
-
-
1Loss-
OR4M1-
-
-
-
1Loss-
OR4N2-
-
-
-
1Loss-
OR4N5-
-
-
-
1Loss-
OR4P4-
-
-
-
1Loss-
OR4Q2-
-
-
-
1Loss-
OR4Q3-
-
-
-
1Loss-
OR4S1-
-
-
-
1Loss-
OR4S2-
-
-
-
1Loss-
OR4X1-
-
-
-
1Loss-
OR4X2-
-
-
-
1Loss-
OR51A2-
-
-
-
1Loss-
OR51A4-
-
-
-
1Loss-
OR51A7-
-
-
-
1Loss-
OR51B2-
-
-
-
1Loss-
OR51B4p.S99F
Missense
SNP
0.483
1Loss-
OR51B5-
-
-
-
1Loss-
OR51B6p.L220F
Missense
SNP
0.524
1Loss-
OR51C1P-
-
-
-
1Loss-
OR51D1-
-
-
-
1Loss-
OR51E1-
-
-
-
1Loss-
OR51E2-
-
-
-
1Loss-
OR51F1-
-
-
-
1Loss-
OR51F2-
-
-
-
1Loss-
OR51G1-
-
-
-
1Loss-
OR51G2-
-
-
-
1Loss-
OR51I1-
-
-
-
1Loss-
OR51I2-
-
-
-
1Loss-
OR51L1-
-
-
-
1Loss-
OR51M1-
-
-
-
1Loss-
OR51Q1-
-
-
-
1Loss-
OR51S1-
-
-
-
1Loss-
OR51T1-
-
-
-
1Loss-
OR51V1-
-
-
-
1Loss-
OR52A1-
-
-
-
1Loss-
OR52A5p.H145Y
Missense
SNP
0.444
1Loss-
OR52B2-
-
-
-
1Loss-
OR52B4-
-
-
-
1Loss-
OR52B6-
-
-
-
1Loss-
OR52D1-
-
-
-
1Loss-
OR52E2p.E317K
Missense
SNP
0.453
1Loss-
OR52E4-
-
-
-
1Loss-
OR52E5-
-
-
-
1Loss-
OR52E6-
-
-
-
1Loss-
OR52E8-
-
-
-
1Loss-
OR52H1-
-
-
-
1Loss-
OR52I1-
-
-
-
1Loss-
OR52I2p.P320S
Missense
SNP
0.426
1Loss-
OR52J3-
-
-
-
1Loss-
OR52K1p.P20S
Missense
SNP
0.597
1Loss-
OR52K2-
-
-
-
1Loss-
OR52L1-
-
-
-
1Loss-
OR52M1-
-
-
-
1Loss-
OR52N1-
-
-
-
1Loss-
OR52N2-
-
-
-
1Loss-
OR52N4-
-
-
-
1Loss-
OR52N5-
-
-
-
1Loss-
OR52R1-
-
-
-
1Loss-
OR52W1-
-
-
-
1Loss-
OR56A1-
-
-
-
1Loss-
OR56A3-
-
-
-
1Loss-
OR56A4p.P324S
Missense
SNP
0.549
1Loss-
OR56A5-
-
-
-
1Loss-
OR56B1p.G25R
Missense
SNP
0.537
1Loss-
OR56B4-
-
-
-
1Loss-
OR5A1-
-
-
-
1Loss-
OR5A2p.E297K
Missense
SNP
0.377
1Loss-
OR5AK2-
-
-
-
1Loss-
OR5AN1-
-
-
-
1Loss-
OR5AP2-
-
-
-
1Loss-
OR5AR1-
-
-
-
1Loss-
OR5AS1-
-
-
-
1Loss-
OR5AU1-
-
-
-
1Loss-
OR5B12-
-
-
-
1Loss-
OR5B17-
-
-
-
1Loss-
OR5B2-
-
-
-
1Loss-
OR5B21-
-
-
-
1Loss-
OR5B3-
-
-
-
1Loss-
OR5BS1P-
-
-
-
1Loss-
OR5D13-
-
-
-
1Loss-
OR5D14-
-
-
-
1Loss-
OR5D16-
-
-
-
1Loss-
OR5D18-
-
-
-
1Loss-
OR5F1-
-
-
-
1Loss-
OR5H1p.R122C
p.G204S
Missense
Missense
SNP
SNP
0.326
0.573
2--
OR5H15p.S239F
Missense
SNP
0.264
2--
OR5H6p.P299S
Missense
SNP
0.393
2--
OR5I1p.S158F
Missense
SNP
0.483
1Loss-
OR5J2-
-
-
-
1Loss-
OR5L1-
-
-
-
1Loss-
OR5L2-
-
-
-
1Loss-
OR5M1-
-
-
-
1Loss-
OR5M10-
-
-
-
1Loss-
OR5M11p.L15F
Missense
SNP
0.460
1Loss-
OR5M3-
-
-
-
1Loss-
OR5M8-
-
-
-
1Loss-
OR5M9-
-
-
-
1Loss-
OR5P2-
-
-
-
1Loss-
OR5P3-
-
-
-
1Loss-
OR5R1-
-
-
-
1Loss-
OR5T1-
-
-
-
1Loss-
OR5T2-
-
-
-
1Loss-
OR5T3p.D50N
Missense
SNP
0.478
1Loss-
OR5W2-
-
-
-
1Loss-
OR6A2-
-
-
-
1Loss-
OR6C1-
-
-
-
1Loss-
OR6C2-
-
-
-
1Loss-
OR6C3-
-
-
-
1Loss-
OR6C4-
-
-
-
1Loss-
OR6C6-
-
-
-
1Loss-
OR6C65-
-
-
-
1Loss-
OR6C68-
-
-
-
1Loss-
OR6C70-
-
-
-
1Loss-
OR6C74-
-
-
-
1Loss-
OR6C75-
-
-
-
1Loss-
OR6C76-
-
-
-
1Loss-
OR6J1-
-
-
-
1Loss-
OR6M1-
-
-
-
0Del-
OR6P1p.L27F
Missense
SNP
0.746
2--
OR6Q1-
-
-
-
1Loss-
OR6S1-
-
-
-
1Loss-
OR6T1-
-
-
-
0Del-
OR6X1-
-
-
-
0Del-
OR7E47P-
-
-
-
1Loss-
OR8A1-
-
-
-
0Del-
OR8B12-
-
-
-
0Del-
OR8B2-
-
-
-
0Del-
OR8B3-
-
-
-
0Del-
OR8B4-
-
-
-
0Del-
OR8B8-
-
-
-
0Del-
OR8D1-
-
-
-
0Del-
OR8D2-
-
-
-
0Del-
OR8D4-
-
-
-
0Del-
OR8G1-
-
-
-
0Del-
OR8G5-
-
-
-
0Del-
OR8H1-
-
-
-
1Loss-
OR8H2-
-
-
-
1Loss-
OR8H3-
-
-
-
1Loss-
OR8I2-
-
-
-
1Loss-
OR8J1-
-
-
-
1Loss-
OR8J3-
-
-
-
1Loss-
OR8K1-
-
-
-
1Loss-
OR8K3-
-
-
-
1Loss-
OR8K5-
-
-
-
1Loss-
OR8S1p.E324K
Missense
SNP
1.000
1Loss-
OR8U1-
-
-
-
1Loss-
OR9G1-
-
-
-
1Loss-
OR9G4-
-
-
-
1Loss-
OR9I1-
-
-
-
1Loss-
OR9K2-
-
-
-
1Loss-
OR9Q1-
-
-
-
1Loss-
OR9Q2p.E196K
Missense
SNP
0.482
1Loss-
ORC1-
-
-
-
3Gain-
ORMDL2-
-
-
-
1Loss-
OS9-
-
-
-
1Loss-
OSBP-
-
-
-
1Loss-
OSBP2-
-
-
-
3Gain-
OSBPL10-
-
-
-
1Loss-
OSBPL2-
-
-
-
3Gain-
OSBPL3-
-
-
-
3Gain-
OSBPL5-
-
-
-
1Loss-
OSBPL6p.G805R
Missense
SNP
0.687
2--
OSBPL8-
-
-
-
1Loss-
OSBPL9-
-
-
-
3Gain-
OSCP1-
-
-
-
3Gain-
OSER1-
-
-
-
3Gain-
OSGEP-
-
-
-
1Loss-
OSGIN1p.S3F
Missense
SNP
0.626
2--
OSM-
-
-
-
3Gain-
OSMRp.S178F
p.G220E
p.E696K
Missense
Missense
Missense
SNP
SNP
SNP
0.375
0.457
0.495
1Loss-
OSR1-
-
-
-
1Loss-
OST4-
-
-
-
1Loss-
OSTC-
-
-
-
1Loss-
OTCp.D126N
Missense
SNP
1.000
NDND-
OTOF-
-
-
-
1Loss-
OTOG-
-
-
-
1Loss-
OTOGLp.E1924K
Missense
SNP
1.000
1Loss-
OTOL1p.S391F
Missense
SNP
0.270
2--
OTOP1-
-
-
-
1Loss-
OTOR-
-
-
-
1Loss-
OTUB1-
-
-
-
1Loss-
OTUB2-
-
-
-
1Loss-
OTUD1-
-
-
-
1Loss-
OTUD3-
-
-
-
3Gain-
OTUD4-
-
-
-
1Loss-
OTUD6Ap.E184K
p.A215T
Missense
Missense
SNP
SNP
1.000
1.000
NDND-
OTULIN-
-
-
-
1Loss-
OTULINL-
-
-
-
1Loss-
OTX1-
-
-
-
3Gain-
OTX2-
-
-
-
1Loss-
OVCA2-
-
-
-
1Loss-
OVCH2-
-
-
-
1Loss-
OVGP1-
-
-
-
3Gain-
OVOL1-
-
-
-
1Loss-
OVOL2-
-
-
-
1Loss-
OXA1L-
-
-
-
1Loss-
OXCT1-
-
-
-
1Loss-
OXCT2-
-
-
-
3Gain-
OXER1-
-
-
-
1Loss-
OXNAD1-
-
-
-
1Loss-
OXSM-
-
-
-
1Loss-
OXT-
-
-
-
1Loss-
OXTR-
-
-
-
1Loss-
P2RX1-
-
-
-
1Loss-
P2RX3-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P2RY2-
-
-
-
1Loss-
P2RY6-
-
-
-
1Loss-
P3H1-
-
-
-
3Gain-
P4HA1-
-
-
-
1Loss-
P4HA3-
-
-
-
1Loss-
PA2G4-
-
-
-
1Loss-
PAAF1-
-
-
-
1Loss-
PABPC1L-
-
-
-
3Gain-
PABPC4-
-
-
-
3Gain-
PABPC4L-
-
-
-
1Loss-
PABPN1-
-
-
-
1Loss-
PACRGL-
-
-
-
1Loss-
PACS1-
-
-
-
1Loss-
PACS2-
-
-
-
1Loss-
PACSIN2-
-
-
-
3Gain-
PACSIN3-
-
-
-
1Loss-
PADI1-
-
-
-
3Gain-
PADI2-
-
-
-
3Gain-
PADI3-
-
-
-
3Gain-
PADI4-
-
-
-
3Gain-
PADI6-
-
-
-
3Gain-
PAFAH1B1-
-
-
-
1Loss-
PAFAH1B2-
-
-
-
0Del-
PAFAH2-
-
-
-
3Gain-
PAH-
-
-
-
3Gain-
PAICS-
-
-
-
1Loss-
PAIP1-
-
-
-
1Loss-
PAIP2B-
-
-
-
1Loss-
PAK1-
-
-
-
1Loss-
PAK5-
-
-
-
1Loss-
PALD1-
-
-
-
1Loss-
PALLD-
-
-
-
1Loss-
PALM-
-
-
-
1Loss-
PALMD-
-
-
-
3Gain-
PAMR1-
-
-
-
1Loss-
PAN2-
-
-
-
1Loss-
PANK1-
-
-
-
1Loss-
PANK2-
-
-
-
1Loss-
PANK4-
-
-
-
3Gain-
PANX1-
-
-
-
1Loss-
PANX2-
-
-
-
3Gain-
PANX3-
-
-
-
0Del-
PAOX-
-
-
-
1Loss-
PAPLN-
-
-
-
1Loss-
PAPOLA-
-
-
-
1Loss-
PAPOLB-
-
-
-
3Gain-
PAPOLG-
-
-
-
1Loss-
PAPPA2p.E182K
p.P276S
p.V1120M
p.E1705K
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.304
0.261
0.226
0.301
2--
PAPSS1-
-
-
-
1Loss-
PAPSS2-
-
-
-
1Loss-
PAQR3-
-
-
-
1Loss-
PAQR7-
-
-
-
3Gain-
PARD3-
-
-
-
1Loss-
PARD6B-
-
-
-
3Gain-
PARG-
-
-
-
1Loss-
PARK7-
-
-
-
3Gain-
PARM1-
-
-
-
1Loss-
PARP2-
-
-
-
1Loss-
PARP8-
-
-
-
4Gain-
PARPBP-
-
-
-
3Gain-
PARS2-
-
-
-
3Gain-
PARVA-
-
-
-
1Loss-
PARVB-
-
-
-
3Gain-
PARVG-
-
-
-
3Gain-
PATE1-
-
-
-
0Del-
PATE2-
-
-
-
0Del-
PATE3-
-
-
-
0Del-
PATE4-
-
-
-
0Del-
PATJ-
-
-
-
3Gain-
PATL1-
-
-
-
1Loss-
PATZ1-
-
-
-
3Gain-
PAWR-
-
-
-
1Loss-
PAX1-
-
-
-
1Loss-
PAX2-
-
-
-
1Loss-
PAX6-
-
-
-
1Loss-
PAX7-
-
-
-
3Gain-
PAX9-
-
-
-
1Loss-
PBK-
-
-
-
1Loss-
PBLD-
-
-
-
1Loss-
PC-
-
-
-
1Loss-
PCARE-
-
-
-
1Loss-
PCBD1-
-
-
-
1Loss-
PCBP1-
-
-
-
1Loss-
PCBP2-
-
-
-
1Loss-
PCDH10-
-
-
-
1Loss-
PCDH15p.S1902L
p.P1425L
p.D93N
Missense
Missense
Missense
SNP
SNP
SNP
0.493
0.542
0.539
1Loss-
PCDH17-
-
-
-
3Gain-
PCDH18p.D388N
Missense
SNP
0.990
1Loss-
PCDH19p.H956Y
Missense
SNP
0.984
NDND-
PCDH7-
-
-
-
1Loss-
PCDH8-
-
-
-
3Gain-
PCDH9-
-
-
-
3Gain-
PCDHA11p.P153S
Missense
SNP
0.597
2--
PCDHA13p.E204K
Missense
SNP
0.669
2--
PCDHAC2p.P819S
Missense
SNP
0.328
2--
PCDHB12p.E522K
Missense
SNP
0.760
2--
PCDHB3p.G155E
Missense
SNP
0.407
2--
PCDHB6p.P152S
p.S272L
Missense
Missense
SNP
SNP
0.313
0.285
2--
PCDHB7p.L194S
Missense
SNP
0.341
2--
PCDHGA2p.E756K
Missense
SNP
0.741
2--
PCED1A-
-
-
-
1Loss-
PCED1B-
-
-
-
1Loss-
PCF11-
-
-
-
1Loss-
PCGF1-
-
-
-
1Loss-
PCGF3-
-
-
-
1Loss-
PCGF5-
-
-
-
1Loss-
PCGF6-
-
-
-
1Loss-
PCIF1-
-
-
-
3Gain-
PCK1-
-
-
-
3Gain-
PCK2-
-
-
-
1Loss-
PCLOp.S3129L
p.S2556F
p.D1897N
Missense
Missense
Missense
SNP
SNP
SNP
0.345
0.710
0.642
2--
PCM1-
-
-
-
1Loss-
PCMTD1-
-
-
-
1Loss-
PCMTD2-
-
-
-
3Gain-
PCNA-
-
-
-
1Loss-
PCNX1-
-
-
-
1Loss-
PCNX3-
-
-
-
1Loss-
PCNX4-
-
-
-
1Loss-
PCSK2-
-
-
-
1Loss-
PCSK4-
-
-
-
1Loss-
PCSK6p.G196E
Missense
SNP
0.574
2--
PCSK7-
-
-
-
0Del-
PCSK9-
-
-
-
3Gain-
PCYOX1-
-
-
-
1Loss-
PDCD11-
-
-
-
1Loss-
PDCD4-
-
-
-
1Loss-
PDCD6-
-
-
-
1Loss-
PDCD6IP-
-
-
-
1Loss-
PDCL2-
-
-
-
1Loss-
PDE1B-
-
-
-
1Loss-
PDE1Cp.S652F
Missense
SNP
0.474
3Gain-
PDE2A-
-
-
-
1Loss-
PDE3B-
-
-
-
1Loss-
PDE4B-
-
-
-
3Gain-
PDE5A-
-
-
-
1Loss-
PDE6B-
-
-
-
1Loss-
PDE6C-
-
-
-
1Loss-
PDGFA-
-
-
-
3Gain-
PDGFB-
-
-
-
3Gain-
PDGFC-
-
-
-
1Loss-
PDGFD-
-
-
-
0Del-
PDGFRA-
-
-
-
1Loss-
PDGFRL-
-
-
-
1Loss-
PDHA2-
-
-
-
1Loss-
PDHX-
-
-
-
1Loss-
PDIA6-
-
-
-
1Loss-
PDIK1L-
-
-
-
3Gain-
PDLIM1-
-
-
-
1Loss-
PDLIM2-
-
-
-
1Loss-
PDLIM3-
-
-
-
1Loss-
PDLIM5-
-
-
-
1Loss-
PDPN-
-
-
-
3Gain-
PDRG1-
-
-
-
3Gain-
PDS5A-
-
-
-
1Loss-
PDSS1-
-
-
-
1Loss-
PDXP-
-
-
-
3Gain-
PDYN-
-
-
-
1Loss-
PDZD2-
-
-
-
1Loss-
PDZD3-
-
-
-
0Del-
PDZD7-
-
-
-
1Loss-
PDZD8-
-
-
-
1Loss-
PDZK1IP1-
-
-
-
3Gain-
PDZRN4-
-
-
-
1Loss-
PEAK3-
-
-
-
1Loss-
PEAR1p.G952E
Missense
SNP
0.302
2--
PEBP1-
-
-
-
0Del-
PEBP4-
-
-
-
1Loss-
PEF1-
-
-
-
3Gain-
PEG3-
-
-
-
3Gain-
PELI1-
-
-
-
1Loss-
PELI2-
-
-
-
1Loss-
PELI3-
-
-
-
1Loss-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PER1-
-
-
-
1Loss-
PER3-
-
-
-
3Gain-
PERM1-
-
-
-
3Gain-
PES1-
-
-
-
3Gain-
PET117-
-
-
-
1Loss-
PEX10-
-
-
-
3Gain-
PEX12-
-
-
-
1Loss-
PEX13-
-
-
-
1Loss-
PEX14-
-
-
-
3Gain-
PEX16-
-
-
-
1Loss-
PF4-
-
-
-
1Loss-
PF4V1-
-
-
-
1Loss-
PFAS-
-
-
-
1Loss-
PFDN4-
-
-
-
3Gain-
PFDN5-
-
-
-
1Loss-
PFKFB3-
-
-
-
1Loss-
PFKM-
-
-
-
1Loss-
PFKP-
-
-
-
1Loss-
PFN1-
-
-
-
1Loss-
PFN4-
-
-
-
1Loss-
PGA3-
-
-
-
1Loss-
PGA4-
-
-
-
1Loss-
PGA5-
-
-
-
1Loss-
PGAM1-
-
-
-
1Loss-
PGAM2-
-
-
-
3Gain-
PGAP2-
-
-
-
1Loss-
PGD-
-
-
-
3Gain-
PGF-
-
-
-
1Loss-
PGGHG-
-
-
-
1Loss-
PGM1-
-
-
-
3Gain-
PGM2-
-
-
-
1Loss-
PGM2L1-
-
-
-
1Loss-
PGM5p.E416K
Missense
SNP
0.586
2--
PGR-
-
-
-
0Del-
PGRMC2-
-
-
-
1Loss-
PHACTR3-
-
-
-
3Gain-
PHACTR4-
-
-
-
3Gain-
PHC2-
-
-
-
3Gain-
PHETA2-
-
-
-
3Gain-
PHF12-
-
-
-
1Loss-
PHF13-
-
-
-
3Gain-
PHF14-
-
-
-
3Gain-
PHF20-
-
-
-
3Gain-
PHF21A-
-
-
-
1Loss-
PHF21B-
-
-
-
3Gain-
PHF23-
-
-
-
1Loss-
PHF3p.P1444S
Missense
SNP
0.485
2--
PHF5A-
-
-
-
3Gain-
PHGDH-
-
-
-
3Gain-
PHKG1-
-
-
-
3Gain-
PHLDA1-
-
-
-
1Loss-
PHLDA2-
-
-
-
1Loss-
PHLDB1-
-
-
-
0Del-
PHLDB2p.E435*
Nonsense
SNP
0.319
2--
PHOX2A-
-
-
-
1Loss-
PHOX2B-
-
-
-
1Loss-
PHRF1-
-
-
-
1Loss-
PHTF1-
-
-
-
3Gain-
PHYH-
-
-
-
1Loss-
PHYHIP-
-
-
-
1Loss-
PHYHIPL-
-
-
-
1Loss-
PI3-
-
-
-
3Gain-
PI4K2A-
-
-
-
1Loss-
PI4K2B-
-
-
-
1Loss-
PIAS4-
-
-
-
1Loss-
PICALM-
-
-
-
1Loss-
PICK1-
-
-
-
3Gain-
PIDD1-
-
-
-
1Loss-
PIFOp.P142T
Missense
SNP
0.452
3Gain-
PIGF-
-
-
-
1Loss-
PIGG-
-
-
-
1Loss-
PIGH-
-
-
-
1Loss-
PIGK-
-
-
-
3Gain-
PIGL-
-
-
-
1Loss-
PIGS-
-
-
-
1Loss-
PIGT-
-
-
-
3Gain-
PIGU-
-
-
-
3Gain-
PIGV-
-
-
-
3Gain-
PIGW-
-
-
-
1Loss-
PIGY-
-
-
-
1Loss-
PIH1D2-
-
-
-
0Del-
PIK3AP1-
-
-
-
1Loss-
PIK3C2A-
-
-
-
1Loss-
PIK3CD-
-
-
-
3Gain-
PIK3IP1-
-
-
-
3Gain-
PIK3R3-
-
-
-
3Gain-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PIM3-
-
-
-
3Gain-
PIMREG-
-
-
-
1Loss-
PINK1-
-
-
-
3Gain-
PINX1-
-
-
-
1Loss-
PIP4K2A-
-
-
-
1Loss-
PIP4K2C-
-
-
-
1Loss-
PIP4P1-
-
-
-
1Loss-
PIP5K1C-
-
-
-
1Loss-
PIPOX-
-
-
-
1Loss-
PIRT-
-
-
-
1Loss-
PISD-
-
-
-
3Gain-
PITHD1-
-
-
-
3Gain-
PITPNA-
-
-
-
1Loss-
PITPNM1-
-
-
-
1Loss-
PITPNM3-
-
-
-
1Loss-
PITRM1-
-
-
-
1Loss-
PITX2-
-
-
-
1Loss-
PITX3-
-
-
-
1Loss-
PIWIL2p.R200C
Missense
SNP
0.300
1Loss-
PIWIL4-
-
-
-
1Loss-
PKD1L1-
-
-
-
3Gain-
PKD1L3p.E374K
Missense
SNP
0.646
2--
PKD2-
-
-
-
1Loss-
PKD2L1-
-
-
-
1Loss-
PKDCC-
-
-
-
1Loss-
PKDREJ-
-
-
-
3Gain-
PKHD1L1p.G913E
Missense
SNP
0.642
2--
PKIG-
-
-
-
3Gain-
PKN2-
-
-
-
3Gain-
PKNOX2-
-
-
-
0Del-
PKP3-
-
-
-
1Loss-
PLA2G12A-
-
-
-
1Loss-
PLA2G12B-
-
-
-
1Loss-
PLA2G16-
-
-
-
1Loss-
PLA2G2A-
-
-
-
3Gain-
PLA2G2C-
-
-
-
3Gain-
PLA2G2D-
-
-
-
3Gain-
PLA2G2E-
-
-
-
3Gain-
PLA2G2F-
-
-
-
3Gain-
PLA2G3-
-
-
-
3Gain-
PLA2G5-
-
-
-
3Gain-
PLA2G6-
-
-
-
3Gain-
PLAC8-
-
-
-
1Loss-
PLAC9-
-
-
-
1Loss-
PLAGL2-
-
-
-
3Gain-
PLAT-
-
-
-
1Loss-
PLAU-
-
-
-
1Loss-
PLB1-
-
-
-
1Loss-
PLBD2-
-
-
-
3Gain-
PLCB1-
-
-
-
1Loss-
PLCB3-
-
-
-
1Loss-
PLCB4-
-
-
-
1Loss-
PLCE1-
-
-
-
1Loss-
PLCG1-
-
-
-
3Gain-
PLCG2p.D883N
Missense
SNP
0.575
2--
PLCH1p.R215Q
Missense
SNP
0.548
2--
PLCH2-
-
-
-
3Gain-
PLCL2-
-
-
-
1Loss-
PLCXD3-
-
-
-
1Loss-
PLD2-
-
-
-
1Loss-
PLD4-
-
-
-
1Loss-
PLD6-
-
-
-
1Loss-
PLEK-
-
-
-
1Loss-
PLEK2-
-
-
-
1Loss-
PLEKHA1-
-
-
-
1Loss-
PLEKHA2-
-
-
-
1Loss-
PLEKHA7-
-
-
-
1Loss-
PLEKHA8-
-
-
-
3Gain-
PLEKHB1-
-
-
-
1Loss-
PLEKHD1-
-
-
-
1Loss-
PLEKHG3-
-
-
-
1Loss-
PLEKHG4Bp.G71E
Missense
SNP
0.495
1Loss-
PLEKHG5-
-
-
-
3Gain-
PLEKHG7-
-
-
-
1Loss-
PLEKHH1-
-
-
-
1Loss-
PLEKHH2p.Q391*
Nonsense
SNP
0.508
1Loss-
PLEKHJ1-
-
-
-
1Loss-
PLEKHM2-
-
-
-
3Gain-
PLEKHN1-
-
-
-
3Gain-
PLEKHS1-
-
-
-
1Loss-
PLET1-
-
-
-
0Del-
PLIN3-
-
-
-
1Loss-
PLIN4-
-
-
-
1Loss-
PLIN5-
-
-
-
1Loss-
PLK3-
-
-
-
3Gain-
PLK4-
-
-
-
1Loss-
PLK5-
-
-
-
1Loss-
PLOD1-
-
-
-
3Gain-
PLPBP-
-
-
-
1Loss-
PLPP2-
-
-
-
1Loss-
PLPP3-
-
-
-
3Gain-
PLPP4-
-
-
-
1Loss-
PLPP5-
-
-
-
1Loss-
PLPPR3-
-
-
-
1Loss-
PLPPR4-
-
-
-
3Gain-
PLPPR5-
-
-
-
3Gain-
PLRG1-
-
-
-
1Loss-
PLSCR3-
-
-
-
1Loss-
PLTP-
-
-
-
3Gain-
PLXDC2-
-
-
-
1Loss-
PLXNB2-
-
-
-
3Gain-
PLXNC1-
-
-
-
1Loss-
PMCH-
-
-
-
3Gain-
PMEL-
-
-
-
1Loss-
PMEPA1-
-
-
-
3Gain-
PMM1-
-
-
-
3Gain-
PMP22-
-
-
-
1Loss-
PMS2-
-
-
-
3Gain-
PNLIP-
-
-
-
1Loss-
PNLIPRP1-
-
-
-
1Loss-
PNLIPRP2-
-
-
-
1Loss-
PNLIPRP3-
-
-
-
1Loss-
PNMA1-
-
-
-
1Loss-
PNMA2-
-
-
-
1Loss-
PNN-
-
-
-
1Loss-
PNO1-
-
-
-
1Loss-
PNOC-
-
-
-
1Loss-
PNP-
-
-
-
1Loss-
PNPLA2-
-
-
-
1Loss-
PNPLA3-
-
-
-
3Gain-
PNPLA5-
-
-
-
3Gain-
PNPT1-
-
-
-
1Loss-
PNRC2-
-
-
-
3Gain-
POC1B-
-
-
-
1Loss-
POC1B-GALNT4-
-
-
-
1Loss-
PODN-
-
-
-
3Gain-
POFUT1-
-
-
-
3Gain-
POLA2-
-
-
-
1Loss-
POLB-
-
-
-
1Loss-
POLD2-
-
-
-
3Gain-
POLD3-
-
-
-
1Loss-
POLD4-
-
-
-
1Loss-
POLDIP2-
-
-
-
1Loss-
POLDIP3-
-
-
-
3Gain-
POLE2-
-
-
-
1Loss-
POLE4-
-
-
-
1Loss-
POLL-
-
-
-
1Loss-
POLMp.R229W
Missense
SNP
0.504
3Gain-
POLN-
-
-
-
1Loss-
POLR1A-
-
-
-
1Loss-
POLR2A-
-
-
-
1Loss-
POLR2B-
-
-
-
1Loss-
POLR2E-
-
-
-
1Loss-
POLR2F-
-
-
-
3Gain-
POLR2G-
-
-
-
1Loss-
POLR2L-
-
-
-
1Loss-
POLR3A-
-
-
-
1Loss-
POLR3B-
-
-
-
0Del-
POLR3D-
-
-
-
1Loss-
POLR3F-
-
-
-
1Loss-
POLR3H-
-
-
-
3Gain-
POLRMT-
-
-
-
1Loss-
POM121L12p.P103S
p.W128*
Missense
Nonsense
SNP
SNP
0.491
0.547
3Gain-
POMC-
-
-
-
1Loss-
POMGNT1-
-
-
-
3Gain-
POMK-
-
-
-
1Loss-
POMT2-
-
-
-
1Loss-
POP1p.Y636N
Missense
SNP
0.398
2--
POU2AF1-
-
-
-
0Del-
POU2F3-
-
-
-
0Del-
POU3F1-
-
-
-
3Gain-
POU4F2-
-
-
-
1Loss-
POU5F1B-
-
-
-
5Amp-
POU6F1-
-
-
-
1Loss-
POU6F2-
-
-
-
3Gain-
PP2D1-
-
-
-
1Loss-
PPA1-
-
-
-
1Loss-
PPA2-
-
-
-
1Loss-
PPARA-
-
-
-
3Gain-
PPARG-
-
-
-
1Loss-
PPARGC1A-
-
-
-
1Loss-
PPAT-
-
-
-
1Loss-
PPBP-
-
-
-
1Loss-
PPCS-
-
-
-
3Gain-
PPDPF-
-
-
-
3Gain-
PPDPFL-
-
-
-
1Loss-
PPEF2-
-
-
-
1Loss-
PPFIA1-
-
-
-
1Loss-
PPFIA2-
-
-
-
1Loss-
PPFIBP2-
-
-
-
1Loss-
PPHLN1-
-
-
-
1Loss-
PPIA-
-
-
-
3Gain-
PPID-
-
-
-
1Loss-
PPIE-
-
-
-
3Gain-
PPIF-
-
-
-
1Loss-
PPIH-
-
-
-
3Gain-
PPM1A-
-
-
-
1Loss-
PPM1B-
-
-
-
1Loss-
PPM1G-
-
-
-
1Loss-
PPM1H-
-
-
-
1Loss-
PPM1J-
-
-
-
3Gain-
PPM1K-
-
-
-
1Loss-
PPME1-
-
-
-
1Loss-
PPP1CA-
-
-
-
1Loss-
PPP1CB-
-
-
-
1Loss-
PPP1R12A-
-
-
-
1Loss-
PPP1R12C-
-
-
-
3Gain-
PPP1R13B-
-
-
-
1Loss-
PPP1R14B-
-
-
-
1Loss-
PPP1R16B-
-
-
-
3Gain-
PPP1R17-
-
-
-
3Gain-
PPP1R1A-
-
-
-
1Loss-
PPP1R21-
-
-
-
1Loss-
PPP1R32-
-
-
-
1Loss-
PPP1R36-
-
-
-
1Loss-
PPP1R3Ap.E707K
Missense
SNP
0.661
2--
PPP1R3B-
-
-
-
1Loss-
PPP1R3C-
-
-
-
1Loss-
PPP1R3D-
-
-
-
3Gain-
PPP1R3E-
-
-
-
1Loss-
PPP1R8-
-
-
-
3Gain-
PPP2CB-
-
-
-
1Loss-
PPP2R1B-
-
-
-
0Del-
PPP2R2A-
-
-
-
1Loss-
PPP2R2C-
-
-
-
1Loss-
PPP2R2D-
-
-
-
1Loss-
PPP2R3C-
-
-
-
1Loss-
PPP2R5B-
-
-
-
1Loss-
PPP2R5C-
-
-
-
1Loss-
PPP2R5E-
-
-
-
1Loss-
PPP3CA-
-
-
-
1Loss-
PPP3CB-
-
-
-
1Loss-
PPP3CC-
-
-
-
1Loss-
PPP3R1-
-
-
-
1Loss-
PPP4R3A-
-
-
-
1Loss-
PPP4R3B-
-
-
-
1Loss-
PPP4R4-
-
-
-
1Loss-
PPP6R1-
-
-
-
3Gain-
PPP6R2-
-
-
-
3Gain-
PPP6R3-
-
-
-
1Loss-
PPRC1p.R1454W
Missense
SNP
0.500
1Loss-
PPT1-
-
-
-
3Gain-
PQLC2-
-
-
-
3Gain-
PQLC3-
-
-
-
1Loss-
PRADC1-
-
-
-
1Loss-
PRAG1-
-
-
-
1Loss-
PRAMEF1-
-
-
-
3Gain-
PRAMEF12-
-
-
-
3Gain-
PRAMEF18-
-
-
-
3Gain-
PRAMEF19-
-
-
-
3Gain-
PRAMEF2-
-
-
-
3Gain-
PRAMEF20-
-
-
-
3Gain-
PRAP1-
-
-
-
1Loss-
PRB3p.R116C
Missense
SNP
0.216
2--
PRCP-
-
-
-
1Loss-
PRDM10-
-
-
-
0Del-
PRDM11-
-
-
-
1Loss-
PRDM16-
-
-
-
3Gain-
PRDM2-
-
-
-
3Gain-
PRDM5-
-
-
-
1Loss-
PRDM8-
-
-
-
1Loss-
PRDM9-
-
-
-
1Loss-
PRDX1-
-
-
-
3Gain-
PRDX3-
-
-
-
1Loss-
PRDX5-
-
-
-
1Loss-
PREB-
-
-
-
1Loss-
PRELID3B-
-
-
-
3Gain-
PREPL-
-
-
-
1Loss-
PREX1-
-
-
-
3Gain-
PRF1-
-
-
-
1Loss-
PRG2-
-
-
-
1Loss-
PRG3-
-
-
-
1Loss-
PRICKLE1-
-
-
-
1Loss-
PRIM1-
-
-
-
1Loss-
PRIMA1-
-
-
-
1Loss-
PRIMPOL-
-
-
-
1Loss-
PRKAA1-
-
-
-
1Loss-
PRKAA2-
-
-
-
3Gain-
PRKACB-
-
-
-
3Gain-
PRKAG1-
-
-
-
1Loss-
PRKAR1B-
-
-
-
3Gain-
PRKCE-
-
-
-
1Loss-
PRKCH-
-
-
-
1Loss-
PRKCQ-
-
-
-
1Loss-
PRKCZ-
-
-
-
3Gain-
PRKD1-
-
-
-
1Loss-
PRKD3-
-
-
-
1Loss-
PRKDC-
-
-
-
1Loss-
PRKG1-
-
-
-
1Loss-
PRKG2-
-
-
-
1Loss-
PRLHR-
-
-
-
1Loss-
PRLR-
-
-
-
1Loss-
PRMT3-
-
-
-
1Loss-
PRMT5-
-
-
-
1Loss-
PRMT6-
-
-
-
3Gain-
PRMT9-
-
-
-
1Loss-
PRND-
-
-
-
1Loss-
PRNP-
-
-
-
1Loss-
PROCA1-
-
-
-
1Loss-
PROCR-
-
-
-
3Gain-
PROK1-
-
-
-
3Gain-
PROKR1-
-
-
-
1Loss-
PROKR2-
-
-
-
1Loss-
PROM1-
-
-
-
1Loss-
PROSER2-
-
-
-
1Loss-
PROX2-
-
-
-
1Loss-
PRPF18-
-
-
-
1Loss-
PRPF19-
-
-
-
1Loss-
PRPF38A-
-
-
-
3Gain-
PRPF38B-
-
-
-
3Gain-
PRPF39-
-
-
-
1Loss-
PRPF40B-
-
-
-
1Loss-
PRPF6-
-
-
-
3Gain-
PRPF8-
-
-
-
1Loss-
PRPH-
-
-
-
1Loss-
PRPS1L1p.E62K
Missense
SNP
0.495
3Gain-
PRPSAP2-
-
-
-
1Loss-
PRR13-
-
-
-
1Loss-
PRR14L-
-
-
-
3Gain-
PRR15-
-
-
-
3Gain-
PRR23Ap.A200V
Missense
SNP
0.264
2--
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR26-
-
-
-
1Loss-
PRR27-
-
-
-
1Loss-
PRR30-
-
-
-
1Loss-
PRR33-
-
-
-
1Loss-
PRR5-
-
-
-
3Gain-
PRR5-ARHGAP8-
-
-
-
3Gain-
PRR5L-
-
-
-
1Loss-
PRRG4-
-
-
-
1Loss-
PRRT3-
-
-
-
1Loss-
PRSS12-
-
-
-
1Loss-
PRSS23-
-
-
-
1Loss-
PRSS48-
-
-
-
1Loss-
PRSS55-
-
-
-
1Loss-
PRSS57-
-
-
-
1Loss-
PRTFDC1-
-
-
-
1Loss-
PRTN3-
-
-
-
1Loss-
PRXL2A-
-
-
-
1Loss-
PRXL2B-
-
-
-
3Gain-
PSAP-
-
-
-
1Loss-
PSAPL1-
-
-
-
1Loss-
PSD-
-
-
-
1Loss-
PSD3-
-
-
-
1Loss-
PSEN1-
-
-
-
1Loss-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2p.S46F
Missense
SNP
0.291
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSMA1-
-
-
-
1Loss-
PSMA2-
-
-
-
3Gain-
PSMA3-
-
-
-
1Loss-
PSMA5-
-
-
-
3Gain-
PSMA6-
-
-
-
1Loss-
PSMA7-
-
-
-
3Gain-
PSMB11-
-
-
-
1Loss-
PSMB2-
-
-
-
3Gain-
PSMB5-
-
-
-
1Loss-
PSMB6-
-
-
-
1Loss-
PSMC1-
-
-
-
1Loss-
PSMC3-
-
-
-
1Loss-
PSMC6-
-
-
-
1Loss-
PSMD11-
-
-
-
1Loss-
PSMD13-
-
-
-
1Loss-
PSME1-
-
-
-
1Loss-
PSME2-
-
-
-
1Loss-
PSME4-
-
-
-
1Loss-
PSMF1-
-
-
-
1Loss-
PSMG3-
-
-
-
3Gain-
PSPC1-
-
-
-
1Loss-
PSPH-
-
-
-
3Gain-
PSRC1-
-
-
-
3Gain-
PSTK-
-
-
-
1Loss-
PTAFR-
-
-
-
3Gain-
PTBP1-
-
-
-
1Loss-
PTBP2-
-
-
-
3Gain-
PTCD3-
-
-
-
1Loss-
PTCH2-
-
-
-
3Gain-
PTCHD3-
-
-
-
1Loss-
PTDSS2-
-
-
-
1Loss-
PTEN-
-
-
-
1Loss-
PTER-
-
-
-
1Loss-
PTF1A-
-
-
-
1Loss-
PTGDR-
-
-
-
1Loss-
PTGDR2-
-
-
-
1Loss-
PTGER2-
-
-
-
1Loss-
PTGER3-
-
-
-
3Gain-
PTGER4-
-
-
-
1Loss-
PTGES3-
-
-
-
1Loss-
PTGFR-
-
-
-
3Gain-
PTGFRN-
-
-
-
3Gain-
PTGIS-
-
-
-
3Gain-
PTGR2-
-
-
-
1Loss-
PTGS1p.E404K
Missense
SNP
0.260
2--
PTH-
-
-
-
1Loss-
PTK2B-
-
-
-
1Loss-
PTK6-
-
-
-
3Gain-
PTP4A2-
-
-
-
3Gain-
PTPMT1-
-
-
-
1Loss-
PTPN1-
-
-
-
3Gain-
PTPN11-
-
-
-
3Gain-
PTPN13-
-
-
-
1Loss-
PTPN20-
-
-
-
1Loss-
PTPN21-
-
-
-
1Loss-
PTPN22-
-
-
-
3Gain-
PTPN5-
-
-
-
1Loss-
PTPN7p.E174K
Missense
SNP
0.298
2--
PTPRA-
-
-
-
1Loss-
PTPRB-
-
-
-
1Loss-
PTPRCAP-
-
-
-
1Loss-
PTPRDp.D960N
Missense
SNP
0.339
2--
PTPRE-
-
-
-
1Loss-
PTPRF-
-
-
-
3Gain-
PTPRH-
-
-
-
3Gain-
PTPRJp.S822F
Missense
SNP
0.420
1Loss-
PTPRQ-
-
-
-
1Loss-
PTPRR-
-
-
-
1Loss-
PTPRS-
-
-
-
1Loss-
PTPRTp.M900I
Missense
SNP
0.492
3Gain-
PTPRU-
-
-
-
3Gain-
PTPRZ1p.S636L
Missense
SNP
0.687
2--
PTRHD1-
-
-
-
1Loss-
PTS-
-
-
-
0Del-
PTTG2-
-
-
-
1Loss-
PUM1-
-
-
-
3Gain-
PUM2-
-
-
-
1Loss-
PURB-
-
-
-
3Gain-
PURG-
-
-
-
1Loss-
PUS10p.S147F
Missense
SNP
0.451
1Loss-
PUS3-
-
-
-
0Del-
PUS7L-
-
-
-
1Loss-
PUSL1-
-
-
-
3Gain-
PVALB-
-
-
-
3Gain-
PWWP2B-
-
-
-
1Loss-
PXDNp.S153L
Missense
SNP
0.500
1Loss-
PXDNL-
-
-
-
1Loss-
PXMP4-
-
-
-
3Gain-
PYGB-
-
-
-
1Loss-
PYGLp.R270Q
Missense
SNP
1.000
1Loss-
PYGM-
-
-
-
1Loss-
PYM1-
-
-
-
1Loss-
PYROXD2-
-
-
-
1Loss-
PYURF-
-
-
-
1Loss-
QDPR-
-
-
-
1Loss-
QPCT-
-
-
-
1Loss-
QRFPR-
-
-
-
1Loss-
QSER1p.P275S
Missense
SNP
0.536
1Loss-
R3HCC1-
-
-
-
1Loss-
R3HCC1L-
-
-
-
1Loss-
R3HDM2-
-
-
-
1Loss-
R3HDM4-
-
-
-
1Loss-
R3HDML-
-
-
-
3Gain-
RAB10-
-
-
-
1Loss-
RAB11FIP1-
-
-
-
1Loss-
RAB11FIP2-
-
-
-
1Loss-
RAB11FIP4-
-
-
-
1Loss-
RAB11FIP5-
-
-
-
1Loss-
RAB15-
-
-
-
1Loss-
RAB18-
-
-
-
1Loss-
RAB1A-
-
-
-
1Loss-
RAB1B-
-
-
-
1Loss-
RAB21-
-
-
-
1Loss-
RAB22A-
-
-
-
3Gain-
RAB28-
-
-
-
1Loss-
RAB2B-
-
-
-
1Loss-
RAB30-
-
-
-
1Loss-
RAB33B-
-
-
-
1Loss-
RAB34-
-
-
-
1Loss-
RAB38-
-
-
-
1Loss-
RAB39A-
-
-
-
0Del-
RAB3B-
-
-
-
3Gain-
RAB3IL1-
-
-
-
1Loss-
RAB3IP-
-
-
-
1Loss-
RAB42-
-
-
-
3Gain-
RAB5A-
-
-
-
1Loss-
RAB5B-
-
-
-
1Loss-
RAB5IF-
-
-
-
3Gain-
RAB6A-
-
-
-
1Loss-
RABEP1-
-
-
-
1Loss-
RABGGTA-
-
-
-
1Loss-
RABGGTB-
-
-
-
3Gain-
RABL2B-
-
-
-
3Gain-
RAC1-
-
-
-
3Gain-
RAC2-
-
-
-
3Gain-
RACGAP1-
-
-
-
1Loss-
RAD1-
-
-
-
1Loss-
RAD18-
-
-
-
1Loss-
RAD21L1-
-
-
-
1Loss-
RAD51AP2-
-
-
-
1Loss-
RAD51B-
-
-
-
1Loss-
RAD51D-
-
-
-
1Loss-
RAD51L3-RFFL-
-
-
-
1Loss-
RAD54L-
-
-
-
3Gain-
RAD9A-
-
-
-
1Loss-
RADIL-
-
-
-
3Gain-
RAE1-
-
-
-
3Gain-
RAF1-
-
-
-
1Loss-
RAG1-
-
-
-
1Loss-
RAG2-
-
-
-
1Loss-
RAI1-
-
-
-
1Loss-
RAI14-
-
-
-
1Loss-
RALA-
-
-
-
3Gain-
RALGAPA1-
-
-
-
1Loss-
RALGAPA2-
-
-
-
1Loss-
RALGAPB-
-
-
-
3Gain-
RALY-
-
-
-
3Gain-
RAMP3-
-
-
-
3Gain-
RANBP3L-
-
-
-
1Loss-
RANGAP1-
-
-
-
3Gain-
RANGRF-
-
-
-
1Loss-
RAP1A-
-
-
-
3Gain-
RAP1B-
-
-
-
1Loss-
RAP1GAP-
-
-
-
3Gain-
RAP1GAP2-
-
-
-
1Loss-
RAP1GDS1-
-
-
-
1Loss-
RAPGEF2-
-
-
-
1Loss-
RAPGEF3-
-
-
-
1Loss-
RAPGEF5p.G528E
Missense
SNP
0.434
3Gain-
RAPSN-
-
-
-
1Loss-
RARB-
-
-
-
1Loss-
RARG-
-
-
-
1Loss-
RARRES3-
-
-
-
1Loss-
RASAL1-
-
-
-
3Gain-
RASD1-
-
-
-
1Loss-
RASD2-
-
-
-
3Gain-
RASGEF1A-
-
-
-
1Loss-
RASGEF1B-
-
-
-
1Loss-
RASGRF2p.D288N
p.E934K
Missense
Missense
SNP
SNP
0.645
0.743
2--
RASGRP2-
-
-
-
1Loss-
RASGRP3-
-
-
-
1Loss-
RASL10B-
-
-
-
1Loss-
RASL11B-
-
-
-
1Loss-
RASSF10-
-
-
-
1Loss-
RASSF2-
-
-
-
1Loss-
RASSF3-
-
-
-
1Loss-
RASSF4-
-
-
-
1Loss-
RASSF6-
-
-
-
1Loss-
RASSF7-
-
-
-
1Loss-
RASSF9-
-
-
-
1Loss-
RAVER2-
-
-
-
3Gain-
RAX2p.G137S
Missense
SNP
1.000
1Loss-
RB1p.Q395*
Nonsense
SNP
1.000
2--
RB1CC1-
-
-
-
1Loss-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBBP4-
-
-
-
3Gain-
RBBP8NL-
-
-
-
3Gain-
RBBP9-
-
-
-
1Loss-
RBCK1-
-
-
-
1Loss-
RBFOX1p.G346E
Missense
SNP
0.649
2--
RBFOX2-
-
-
-
3Gain-
RBKS-
-
-
-
1Loss-
RBL1-
-
-
-
3Gain-
RBM12-
-
-
-
3Gain-
RBM14-
-
-
-
1Loss-
RBM14-RBM4-
-
-
-
1Loss-
RBM15-
-
-
-
3Gain-
RBM17-
-
-
-
1Loss-
RBM19-
-
-
-
3Gain-
RBM20-
-
-
-
1Loss-
RBM23-
-
-
-
1Loss-
RBM25-
-
-
-
1Loss-
RBM38-
-
-
-
3Gain-
RBM39-
-
-
-
3Gain-
RBM4-
-
-
-
1Loss-
RBM46-
-
-
-
1Loss-
RBM47-
-
-
-
1Loss-
RBM4B-
-
-
-
1Loss-
RBM7-
-
-
-
0Del-
RBMS2-
-
-
-
1Loss-
RBMS3-
-
-
-
1Loss-
RBMXL1-
-
-
-
3Gain-
RBMXL2p.G71D
Missense
SNP
0.512
1Loss-
RBP3-
-
-
-
1Loss-
RBP4-
-
-
-
1Loss-
RBP7-
-
-
-
3Gain-
RBPJ-
-
-
-
1Loss-
RBPJL-
-
-
-
3Gain-
RBPMS-
-
-
-
1Loss-
RBSN-
-
-
-
1Loss-
RBX1-
-
-
-
3Gain-
RCAN3-
-
-
-
3Gain-
RCC1-
-
-
-
3Gain-
RCC2-
-
-
-
3Gain-
RCE1-
-
-
-
1Loss-
RCHY1-
-
-
-
1Loss-
RCN1-
-
-
-
1Loss-
RCOR1-
-
-
-
1Loss-
RCOR2-
-
-
-
1Loss-
RCVRN-
-
-
-
1Loss-
RD3L-
-
-
-
1Loss-
RDH11-
-
-
-
1Loss-
RDH12-
-
-
-
1Loss-
RDH13-
-
-
-
3Gain-
RDH14-
-
-
-
1Loss-
RDH16-
-
-
-
1Loss-
RDH5-
-
-
-
1Loss-
RDM1-
-
-
-
1Loss-
RDX-
-
-
-
0Del-
REC8-
-
-
-
1Loss-
REELD1-
-
-
-
1Loss-
REEP1-
-
-
-
1Loss-
REEP3-
-
-
-
1Loss-
REEP4-
-
-
-
1Loss-
REEP6-
-
-
-
1Loss-
REG1A-
-
-
-
3Gain-
REG1B-
-
-
-
3Gain-
REG3A-
-
-
-
3Gain-
REG3G-
-
-
-
3Gain-
REG4-
-
-
-
3Gain-
REL-
-
-
-
1Loss-
RELA-
-
-
-
1Loss-
RELL1-
-
-
-
1Loss-
RELT-
-
-
-
1Loss-
REM1-
-
-
-
3Gain-
REM2-
-
-
-
1Loss-
RER1-
-
-
-
3Gain-
RERE-
-
-
-
3Gain-
REST-
-
-
-
1Loss-
RETp.L895S
Missense
SNP
0.425
1Loss-
RETREG1-
-
-
-
1Loss-
RETSAT-
-
-
-
1Loss-
REXO1-
-
-
-
1Loss-
REXO2-
-
-
-
0Del-
RFC1-
-
-
-
1Loss-
RFFL-
-
-
-
1Loss-
RFLNB-
-
-
-
1Loss-
RFPL2-
-
-
-
3Gain-
RFPL3-
-
-
-
3Gain-
RFPL4A-
-
-
-
3Gain-
RFPL4AL1-
-
-
-
3Gain-
RFTN1-
-
-
-
1Loss-
RFX4-
-
-
-
0Del-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGR-
-
-
-
1Loss-
RGS10-
-
-
-
1Loss-
RGS12-
-
-
-
1Loss-
RGS19-
-
-
-
3Gain-
RGS3p.S997F
Missense
SNP
0.639
2--
RGS6p.E18K
Missense
SNP
1.000
1Loss-
RGSL1p.E474K
Missense
SNP
0.342
2--
RHBDL2-
-
-
-
3Gain-
RHBDL3-
-
-
-
1Loss-
RHCE-
-
-
-
3Gain-
RHD-
-
-
-
3Gain-
RHEBL1-
-
-
-
1Loss-
RHOB-
-
-
-
1Loss-
RHOBTB1-
-
-
-
1Loss-
RHOBTB2-
-
-
-
1Loss-
RHOC-
-
-
-
3Gain-
RHOD-
-
-
-
1Loss-
RHOG-
-
-
-
1Loss-
RHOH-
-
-
-
1Loss-
RHOJ-
-
-
-
1Loss-
RHOQ-
-
-
-
1Loss-
RHOT1-
-
-
-
1Loss-
RHOUp.M243I
Missense
SNP
0.362
2--
RIBC2-
-
-
-
3Gain-
RIC3-
-
-
-
1Loss-
RIC8A-
-
-
-
1Loss-
RIC8B-
-
-
-
0Del-
RICTOR-
-
-
-
1Loss-
RIDAp.P105S
Missense
SNP
0.339
2--
RILP-
-
-
-
1Loss-
RIMKLA-
-
-
-
3Gain-
RIMS1p.R1291Q
Missense
SNP
0.422
2--
RIMS3-
-
-
-
3Gain-
RIMS4-
-
-
-
3Gain-
RIN1-
-
-
-
1Loss-
RIN2-
-
-
-
1Loss-
RIN3-
-
-
-
1Loss-
RIOX1-
-
-
-
1Loss-
RIPK3-
-
-
-
1Loss-
RIPOR3-
-
-
-
3Gain-
RIPPLY3p.S163F
Missense
SNP
0.366
2--
RIT2p.P127S
Missense
SNP
0.397
2--
RITA1-
-
-
-
3Gain-
RLFp.P113S
Missense
SNP
0.487
3Gain-
RMDN2-
-
-
-
1Loss-
RMND5A-
-
-
-
1Loss-
RN7SL1-
-
-
-
NDNDNME2--RN7SL1
RNA5-8SN2-
-
-
-
NDNDRNA5-8SN2--BICD1
RNASE1-
-
-
-
1Loss-
RNASE10-
-
-
-
1Loss-
RNASE11-
-
-
-
1Loss-
RNASE12-
-
-
-
1Loss-
RNASE13-
-
-
-
1Loss-
RNASE2-
-
-
-
1Loss-
RNASE3-
-
-
-
1Loss-
RNASE4-
-
-
-
1Loss-
RNASE6-
-
-
-
1Loss-
RNASE7-
-
-
-
1Loss-
RNASE8-
-
-
-
1Loss-
RNASE9-
-
-
-
1Loss-
RNASEH1-
-
-
-
1Loss-
RNASEH2C-
-
-
-
1Loss-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RND1-
-
-
-
1Loss-
RNF103-
-
-
-
1Loss-
RNF103-CHMP3-
-
-
-
1Loss-
RNF11-
-
-
-
3Gain-
RNF112-
-
-
-
1Loss-
RNF114-
-
-
-
3Gain-
RNF121-
-
-
-
1Loss-
RNF122-
-
-
-
1Loss-
RNF126-
-
-
-
1Loss-
RNF135-
-
-
-
1Loss-
RNF141-
-
-
-
1Loss-
RNF144A-
-
-
-
1Loss-
RNF150-
-
-
-
1Loss-
RNF152p.E86K
Missense
SNP
0.613
2--
RNF167-
-
-
-
1Loss-
RNF169-
-
-
-
1Loss-
RNF17p.W1229*
Nonsense
SNP
1.000
2--
RNF170-
-
-
-
1Loss-
RNF175-
-
-
-
1Loss-
RNF181-
-
-
-
1Loss-
RNF185-
-
-
-
3Gain-
RNF186-
-
-
-
3Gain-
RNF19B-
-
-
-
3Gain-
RNF207-
-
-
-
3Gain-
RNF212-
-
-
-
1Loss-
RNF212B-
-
-
-
1Loss-
RNF214-
-
-
-
0Del-
RNF215-
-
-
-
3Gain-
RNF216p.P868L
Missense
SNP
0.498
3Gain-
RNF220-
-
-
-
3Gain-
RNF222-
-
-
-
1Loss-
RNF223-
-
-
-
3Gain-
RNF227-
-
-
-
1Loss-
RNF24-
-
-
-
1Loss-
RNF26-
-
-
-
0Del-
RNF31-
-
-
-
1Loss-
RNF4-
-
-
-
1Loss-
RNF41-
-
-
-
1Loss-
RNGTTp.S275F
Missense
SNP
0.514
2--
RNH1-
-
-
-
1Loss-
RNLS-
-
-
-
1Loss-
RNPC3-
-
-
-
3Gain-
ROBO3-
-
-
-
0Del-
ROBO4-
-
-
-
0Del-
ROCK1-
-
-
-
4Gain-
ROCK2-
-
-
-
1Loss-
ROM1-
-
-
-
1Loss-
ROMO1-
-
-
-
3Gain-
ROPN1L-
-
-
-
1Loss-
ROR1p.S677F
Missense
SNP
0.531
3Gain-
ROR2p.E453K
Missense
SNP
0.433
2--
RP1p.S779F
p.D1430N
Missense
Missense
SNP
SNP
0.732
0.700
2--
RP1L1-
-
-
-
1Loss-
RP9-
-
-
-
3Gain-
RPA1-
-
-
-
1Loss-
RPA2-
-
-
-
3Gain-
RPA3-
-
-
-
3Gain-
RPAIN-
-
-
-
1Loss-
RPAP2-
-
-
-
3Gain-
RPAP3-
-
-
-
1Loss-
RPE65-
-
-
-
3Gain-
RPEL1-
-
-
-
1Loss-
RPF1-
-
-
-
3Gain-
RPGRIP1-
-
-
-
1Loss-
RPH3A-
-
-
-
3Gain-
RPH3AL-
-
-
-
1Loss-
RPL10L-
-
-
-
1Loss-
RPL11-
-
-
-
3Gain-
RPL15-
-
-
-
1Loss-
RPL22-
-
-
-
3Gain-
RPL23A-
-
-
-
1Loss-
RPL26-
-
-
-
1Loss-
RPL27A-
-
-
-
1Loss-
RPL28-
-
-
-
3Gain-
RPL3-
-
-
-
3Gain-
RPL32-
-
-
-
1Loss-
RPL34-
-
-
-
1Loss-
RPL36AL-
-
-
-
1Loss-
RPL37-
-
-
-
1Loss-
RPL41-
-
-
-
1Loss-
RPL5-
-
-
-
3Gain-
RPL6-
-
-
-
3Gain-
RPL9-
-
-
-
1Loss-
RPLP2-
-
-
-
1Loss-
RPN2-
-
-
-
3Gain-
RPP30-
-
-
-
1Loss-
RPP38-
-
-
-
1Loss-
RPRD1B-
-
-
-
3Gain-
RPS13-
-
-
-
1Loss-
RPS15-
-
-
-
1Loss-
RPS19BP1-
-
-
-
3Gain-
RPS21-
-
-
-
3Gain-
RPS24-
-
-
-
1Loss-
RPS25-
-
-
-
0Del-
RPS26-
-
-
-
1Loss-
RPS27A-
-
-
-
1Loss-
RPS29-
-
-
-
1Loss-
RPS3-
-
-
-
1Loss-
RPS3A-
-
-
-
1Loss-
RPS6KA1-
-
-
-
3Gain-
RPS6KA4-
-
-
-
1Loss-
RPS6KA5-
-
-
-
1Loss-
RPS6KB2-
-
-
-
1Loss-
RPS6KL1-
-
-
-
1Loss-
RPS7-
-
-
-
1Loss-
RPS8-
-
-
-
3Gain-
RPS9-
-
-
-
3Gain-
RPTNp.H72Y
Missense
SNP
0.571
2--
RPUSD3-
-
-
-
1Loss-
RPUSD4-
-
-
-
0Del-
RRAGC-
-
-
-
3Gain-
RRAS2-
-
-
-
1Loss-
RRBP1-
-
-
-
1Loss-
RREB1p.P160L
Missense
SNP
0.656
2--
RRH-
-
-
-
1Loss-
RRM1-
-
-
-
1Loss-
RRM2-
-
-
-
1Loss-
RRP12-
-
-
-
1Loss-
RRP7A-
-
-
-
3Gain-
RRP8-
-
-
-
1Loss-
RSAD2-
-
-
-
1Loss-
RSBN1-
-
-
-
3Gain-
RSC1A1-
-
-
-
3Gain-
RSF1-
-
-
-
1Loss-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPO1-
-
-
-
3Gain-
RSPO4-
-
-
-
1Loss-
RSRP1-
-
-
-
3Gain-
RSU1-
-
-
-
1Loss-
RTCA-
-
-
-
3Gain-
RTCB-
-
-
-
3Gain-
RTEL1-
-
-
-
3Gain-
RTEL1-TNFRSF6B-
-
-
-
3Gain-
RTF2-
-
-
-
3Gain-
RTKN-
-
-
-
1Loss-
RTKN2-
-
-
-
1Loss-
RTL1-
-
-
-
1Loss-
RTL6-
-
-
-
3Gain-
RTN1-
-
-
-
1Loss-
RTN3-
-
-
-
1Loss-
RTN4-
-
-
-
1Loss-
RTN4RL1-
-
-
-
1Loss-
RTN4RL2-
-
-
-
1Loss-
RTRAF-
-
-
-
1Loss-
RUFY2-
-
-
-
1Loss-
RUFY3-
-
-
-
1Loss-
RUNX3-
-
-
-
3Gain-
RWDD3-
-
-
-
3Gain-
RWDD4-
-
-
-
1Loss-
RXFP1-
-
-
-
1Loss-
RXFP3-
-
-
-
1Loss-
RXYLT1-
-
-
-
1Loss-
RYR3p.A966V
Missense
SNP
0.241
2--
S100P-
-
-
-
1Loss-
S100PBP-
-
-
-
3Gain-
S1PR1-
-
-
-
3Gain-
S1PR4-
-
-
-
1Loss-
SAA1-
-
-
-
1Loss-
SAA2-
-
-
-
1Loss-
SAA2-SAA4-
-
-
-
1Loss-
SAA4-
-
-
-
1Loss-
SAAL1-
-
-
-
1Loss-
SAC3D1-
-
-
-
1Loss-
SACS-
-
-
-
1Loss-
SALL2-
-
-
-
1Loss-
SALL4-
-
-
-
3Gain-
SAMD10-
-
-
-
3Gain-
SAMD11-
-
-
-
3Gain-
SAMD13-
-
-
-
3Gain-
SAMD15-
-
-
-
1Loss-
SAMD4A-
-
-
-
1Loss-
SAMD8-
-
-
-
1Loss-
SAMD9Lp.Q324*
Nonsense
SNP
0.646
2--
SAMHD1-
-
-
-
3Gain-
SAMM50-
-
-
-
3Gain-
SAP18-
-
-
-
1Loss-
SAP30-
-
-
-
1Loss-
SAR1A-
-
-
-
1Loss-
SARAF-
-
-
-
1Loss-
SARM1-
-
-
-
1Loss-
SARNP-
-
-
-
1Loss-
SARS-
-
-
-
3Gain-
SART1-
-
-
-
1Loss-
SASS6-
-
-
-
3Gain-
SAT2-
-
-
-
1Loss-
SATB1-
-
-
-
1Loss-
SAV1-
-
-
-
1Loss-
SBF1-
-
-
-
3Gain-
SBF2-
-
-
-
1Loss-
SBK2-
-
-
-
3Gain-
SBK3-
-
-
-
3Gain-
SBNO2-
-
-
-
1Loss-
SC5Dp.F254S
Missense
SNP
1.000
0Del-
SCAF11-
-
-
-
1Loss-
SCAMP4-
-
-
-
1Loss-
SCAND1-
-
-
-
3Gain-
SCARA3-
-
-
-
1Loss-
SCARA5-
-
-
-
1Loss-
SCARB2-
-
-
-
1Loss-
SCARF1-
-
-
-
1Loss-
SCART1-
-
-
-
1Loss-
SCD-
-
-
-
1Loss-
SCD5-
-
-
-
1Loss-
SCFD1-
-
-
-
1Loss-
SCFD2-
-
-
-
1Loss-
SCGB1A1p.E82K
Missense
SNP
0.466
1Loss-
SCGB1C1-
-
-
-
1Loss-
SCGB1C2-
-
-
-
1Loss-
SCGB1D1-
-
-
-
1Loss-
SCGB1D2-
-
-
-
1Loss-
SCGB1D4-
-
-
-
1Loss-
SCGB2A1-
-
-
-
1Loss-
SCGB2A2-
-
-
-
1Loss-
SCIMP-
-
-
-
1Loss-
SCIN-
-
-
-
3Gain-
SCLT1-
-
-
-
1Loss-
SCMH1-
-
-
-
3Gain-
SCN10Ap.S892F
Missense
SNP
0.620
2--
SCN1Ap.E46K
Missense
SNP
0.618
2--
SCN2B-
-
-
-
0Del-
SCN3Ap.S1579F
Missense
SNP
0.647
2--
SCN3B-
-
-
-
0Del-
SCN4B-
-
-
-
0Del-
SCN5Ap.R1629Q
Missense
SNP
0.651
2--
SCN7Ap.Q1429*
p.S445F
Nonsense
Missense
SNP
SNP
0.719
0.398
2--
SCN8A-
-
-
-
1Loss-
SCN9Ap.G768E
Missense
SNP
0.418
2--
SCNN1Dp.G334C
Missense
SNP
0.519
3Gain-
SCO1-
-
-
-
1Loss-
SCO2-
-
-
-
3Gain-
SCOC-
-
-
-
1Loss-
SCP2-
-
-
-
3Gain-
SCP2D1-
-
-
-
1Loss-
SCRG1-
-
-
-
1Loss-
SCRN1-
-
-
-
3Gain-
SCRT2-
-
-
-
1Loss-
SCT-
-
-
-
1Loss-
SCUBE1-
-
-
-
3Gain-
SCUBE2-
-
-
-
1Loss-
SCYL1-
-
-
-
1Loss-
SCYL2-
-
-
-
1Loss-
SDAD1-
-
-
-
1Loss-
SDC1-
-
-
-
1Loss-
SDC3-
-
-
-
3Gain-
SDC4-
-
-
-
3Gain-
SDCBP2-
-
-
-
1Loss-
SDF2-
-
-
-
1Loss-
SDF4-
-
-
-
3Gain-
SDHA-
-
-
-
1Loss-
SDHAF2-
-
-
-
1Loss-
SDHB-
-
-
-
3Gain-
SDHD-
-
-
-
0Del-
SDK1-
-
-
-
3Gain-
SDR39U1-
-
-
-
1Loss-
SDR9C7-
-
-
-
1Loss-
SDS-
-
-
-
3Gain-
SDSL-
-
-
-
3Gain-
SEBOX-
-
-
-
1Loss-
SEC13-
-
-
-
1Loss-
SEC14L2-
-
-
-
3Gain-
SEC14L3-
-
-
-
3Gain-
SEC14L4-
-
-
-
3Gain-
SEC14L6-
-
-
-
3Gain-
SEC22B-
-
-
-
3Gain-
SEC23A-
-
-
-
1Loss-
SEC23B-
-
-
-
1Loss-
SEC23IP-
-
-
-
1Loss-
SEC24B-
-
-
-
1Loss-
SEC24C-
-
-
-
1Loss-
SEC24D-
-
-
-
1Loss-
SEC31A-
-
-
-
1Loss-
SEC31B-
-
-
-
1Loss-
SEC61A2-
-
-
-
1Loss-
SEC61G-
-
-
-
3Gain-
SEL1L-
-
-
-
1Loss-
SEL1L2-
-
-
-
1Loss-
SEL1L3-
-
-
-
1Loss-
SELENOF-
-
-
-
3Gain-
SELENOH-
-
-
-
1Loss-
SELENOI-
-
-
-
1Loss-
SELENOM-
-
-
-
3Gain-
SELENON-
-
-
-
3Gain-
SELENOO-
-
-
-
3Gain-
SELENOP-
-
-
-
1Loss-
SEMA3Ap.G13R
Missense
SNP
0.608
2--
SEMA4F-
-
-
-
1Loss-
SEMA4G-
-
-
-
1Loss-
SEMA5A-
-
-
-
1Loss-
SEMA6Bp.D368N
Missense
SNP
1.000
1Loss-
SEMG1p.H124Y
Missense
SNP
0.499
3Gain-
SEMG2-
-
-
-
3Gain-
SENP1-
-
-
-
1Loss-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SEPHS1-
-
-
-
1Loss-
SEPSECS-
-
-
-
1Loss-
SEPT11-
-
-
-
1Loss-
SEPT14-
-
-
-
3Gain-
SEPT3-
-
-
-
3Gain-
SEPT7-
-
-
-
3Gain-
SERBP1-
-
-
-
3Gain-
SERGEF-
-
-
-
1Loss-
SERHL2-
-
-
-
3Gain-
SERINC2-
-
-
-
3Gain-
SERINC3-
-
-
-
3Gain-
SERPINA1-
-
-
-
1Loss-
SERPINA10-
-
-
-
1Loss-
SERPINA11-
-
-
-
1Loss-
SERPINA12-
-
-
-
1Loss-
SERPINA3-
-
-
-
1Loss-
SERPINA4-
-
-
-
1Loss-
SERPINA5-
-
-
-
1Loss-
SERPINA6-
-
-
-
1Loss-
SERPINA9-
-
-
-
1Loss-
SERPINB11p.Q130*
Nonsense
SNP
0.307
2--
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERPING1-
-
-
-
1Loss-
SERPINH1-
-
-
-
1Loss-
SERTAD2-
-
-
-
1Loss-
SESN2-
-
-
-
3Gain-
SESN3-
-
-
-
1Loss-
SETBP1p.S606F
Missense
SNP
0.683
2--
SETD1Ap.S259F
Missense
SNP
0.302
2--
SETD3-
-
-
-
1Loss-
SETD5-
-
-
-
1Loss-
SETD7-
-
-
-
1Loss-
SETMAR-
-
-
-
1Loss-
SEZ6-
-
-
-
1Loss-
SF1-
-
-
-
1Loss-
SF3A1-
-
-
-
3Gain-
SF3A2-
-
-
-
1Loss-
SF3A3-
-
-
-
3Gain-
SF3B2-
-
-
-
1Loss-
SF3B6-
-
-
-
1Loss-
SFI1-
-
-
-
3Gain-
SFMBT2-
-
-
-
1Loss-
SFN-
-
-
-
3Gain-
SFPQ-
-
-
-
3Gain-
SFR1-
-
-
-
1Loss-
SFRP1-
-
-
-
1Loss-
SFRP2-
-
-
-
1Loss-
SFRP4-
-
-
-
3Gain-
SFRP5-
-
-
-
1Loss-
SFTA3-
-
-
-
1Loss-
SFTPA1-
-
-
-
1Loss-
SFTPA2-
-
-
-
1Loss-
SFTPB-
-
-
-
1Loss-
SFTPC-
-
-
-
1Loss-
SFTPD-
-
-
-
1Loss-
SFXN2-
-
-
-
1Loss-
SFXN3-
-
-
-
1Loss-
SFXN4-
-
-
-
1Loss-
SFXN5-
-
-
-
1Loss-
SGCB-
-
-
-
1Loss-
SGCG-
-
-
-
1Loss-
SGCZ-
-
-
-
1Loss-
SGIP1-
-
-
-
3Gain-
SGK2-
-
-
-
3Gain-
SGK494-
-
-
-
1Loss-
SGMS1-
-
-
-
1Loss-
SGMS2-
-
-
-
1Loss-
SGO1-
-
-
-
1Loss-
SGPL1-
-
-
-
1Loss-
SGPP1-
-
-
-
1Loss-
SGSM2-
-
-
-
1Loss-
SGSM3-
-
-
-
3Gain-
SGTA-
-
-
-
1Loss-
SH2D4A-
-
-
-
1Loss-
SH2D4B-
-
-
-
1Loss-
SH2D5-
-
-
-
3Gain-
SH2D6-
-
-
-
1Loss-
SH3BGRL3-
-
-
-
3Gain-
SH3BP1-
-
-
-
3Gain-
SH3BP2-
-
-
-
1Loss-
SH3BP5-
-
-
-
1Loss-
SH3D19-
-
-
-
1Loss-
SH3D21-
-
-
-
3Gain-
SH3GL1-
-
-
-
1Loss-
SH3GLB1-
-
-
-
3Gain-
SH3PXD2A-
-
-
-
1Loss-
SH3RF1-
-
-
-
1Loss-
SH3TC1-
-
-
-
1Loss-
SH3YL1-
-
-
-
1Loss-
SHANK1p.E317K
Missense
SNP
0.307
2--
SHANK2p.P990S
Missense
SNP
0.540
1Loss-
SHANK3-
-
-
-
3Gain-
SHBG-
-
-
-
1Loss-
SHC2-
-
-
-
1Loss-
SHD-
-
-
-
1Loss-
SHISA3-
-
-
-
1Loss-
SHISA6-
-
-
-
1Loss-
SHISA7-
-
-
-
3Gain-
SHISA8-
-
-
-
3Gain-
SHISAL1-
-
-
-
3Gain-
SHISAL2A-
-
-
-
3Gain-
SHLD1-
-
-
-
1Loss-
SHLD2-
-
-
-
1Loss-
SHMT1-
-
-
-
1Loss-
SHMT2-
-
-
-
1Loss-
SHOC2-
-
-
-
1Loss-
SHPK-
-
-
-
1Loss-
SHROOM3-
-
-
-
1Loss-
SHTN1-
-
-
-
1Loss-
SIAE-
-
-
-
0Del-
SIDT2-
-
-
-
0Del-
SIGIRR-
-
-
-
1Loss-
SIGLEC1-
-
-
-
1Loss-
SIGLEC12p.E443K
p.G253E
Missense
Missense
SNP
SNP
0.419
0.691
2--
SIK2-
-
-
-
0Del-
SIK3-
-
-
-
0Del-
SIKE1-
-
-
-
3Gain-
SIPA1-
-
-
-
1Loss-
SIPA1L1-
-
-
-
1Loss-
SIRPA-
-
-
-
1Loss-
SIRPB1-
-
-
-
1Loss-
SIRPB2-
-
-
-
1Loss-
SIRPD-
-
-
-
1Loss-
SIRPG-
-
-
-
1Loss-
SIRT1-
-
-
-
1Loss-
SIRT3-
-
-
-
1Loss-
SIRT6-
-
-
-
1Loss-
SIVA1-
-
-
-
1Loss-
SIX1-
-
-
-
1Loss-
SIX2-
-
-
-
1Loss-
SIX3-
-
-
-
1Loss-
SIX4-
-
-
-
1Loss-
SIX6-
-
-
-
1Loss-
SKA3-
-
-
-
1Loss-
SKAP2-
-
-
-
3Gain-
SKI-
-
-
-
3Gain-
SKIDA1-
-
-
-
1Loss-
SKP2-
-
-
-
1Loss-
SLA2-
-
-
-
3Gain-
SLAIN2-
-
-
-
1Loss-
SLAMF6p.M145I
Missense
SNP
0.360
2--
SLBP-
-
-
-
1Loss-
SLC10A1-
-
-
-
1Loss-
SLC10A4-
-
-
-
1Loss-
SLC10A6-
-
-
-
1Loss-
SLC10A7-
-
-
-
1Loss-
SLC11A2-
-
-
-
1Loss-
SLC12A5-
-
-
-
3Gain-
SLC12A7-
-
-
-
1Loss-
SLC13A2-
-
-
-
1Loss-
SLC13A3-
-
-
-
3Gain-
SLC13A5-
-
-
-
1Loss-
SLC15A3-
-
-
-
1Loss-
SLC16A1-
-
-
-
3Gain-
SLC16A11-
-
-
-
1Loss-
SLC16A12-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A4-
-
-
-
3Gain-
SLC16A7-
-
-
-
1Loss-
SLC16A8-
-
-
-
3Gain-
SLC16A9-
-
-
-
1Loss-
SLC17A2p.E245K
Missense
SNP
0.645
2--
SLC17A6-
-
-
-
1Loss-
SLC17A8-
-
-
-
1Loss-
SLC17A9-
-
-
-
3Gain-
SLC18A1-
-
-
-
1Loss-
SLC18A2-
-
-
-
1Loss-
SLC18A3-
-
-
-
1Loss-
SLC1A2-
-
-
-
1Loss-
SLC1A3-
-
-
-
1Loss-
SLC1A4-
-
-
-
1Loss-
SLC1A7-
-
-
-
3Gain-
SLC20A2-
-
-
-
1Loss-
SLC22A10p.S27F
Missense
SNP
0.456
1Loss-
SLC22A11-
-
-
-
1Loss-
SLC22A12-
-
-
-
1Loss-
SLC22A15-
-
-
-
3Gain-
SLC22A17-
-
-
-
1Loss-
SLC22A18-
-
-
-
1Loss-
SLC22A18AS-
-
-
-
1Loss-
SLC22A24-
-
-
-
1Loss-
SLC22A25-
-
-
-
1Loss-
SLC22A6-
-
-
-
1Loss-
SLC22A8-
-
-
-
1Loss-
SLC22A9-
-
-
-
1Loss-
SLC23A2-
-
-
-
1Loss-
SLC24A3-
-
-
-
1Loss-
SLC24A4-
-
-
-
1Loss-
SLC25A11-
-
-
-
1Loss-
SLC25A16-
-
-
-
1Loss-
SLC25A17-
-
-
-
3Gain-
SLC25A21-
-
-
-
1Loss-
SLC25A22-
-
-
-
1Loss-
SLC25A24-
-
-
-
3Gain-
SLC25A28-
-
-
-
1Loss-
SLC25A29-
-
-
-
1Loss-
SLC25A3-
-
-
-
1Loss-
SLC25A31-
-
-
-
1Loss-
SLC25A33-
-
-
-
3Gain-
SLC25A34-
-
-
-
3Gain-
SLC25A35-
-
-
-
1Loss-
SLC25A37-
-
-
-
1Loss-
SLC25A4-
-
-
-
1Loss-
SLC25A41p.E362K
Missense
SNP
0.340
2--
SLC25A45-
-
-
-
1Loss-
SLC25A47-
-
-
-
1Loss-
SLC26A1-
-
-
-
1Loss-
SLC26A10-
-
-
-
1Loss-
SLC29A2-
-
-
-
1Loss-
SLC29A3-
-
-
-
1Loss-
SLC29A4-
-
-
-
3Gain-
SLC2A1-
-
-
-
3Gain-
SLC2A10-
-
-
-
3Gain-
SLC2A13-
-
-
-
1Loss-
SLC2A4-
-
-
-
1Loss-
SLC2A4RG-
-
-
-
3Gain-
SLC2A5-
-
-
-
3Gain-
SLC2A7-
-
-
-
3Gain-
SLC2A9-
-
-
-
1Loss-
SLC30A2-
-
-
-
3Gain-
SLC30A3-
-
-
-
1Loss-
SLC30A6-
-
-
-
1Loss-
SLC30A7-
-
-
-
3Gain-
SLC30A9-
-
-
-
1Loss-
SLC32A1-
-
-
-
3Gain-
SLC34A2-
-
-
-
1Loss-
SLC35A3-
-
-
-
3Gain-
SLC35C1-
-
-
-
1Loss-
SLC35C2-
-
-
-
3Gain-
SLC35D1-
-
-
-
3Gain-
SLC35E2A-
-
-
-
3Gain-
SLC35E2B-
-
-
-
3Gain-
SLC35E3-
-
-
-
1Loss-
SLC35E4-
-
-
-
3Gain-
SLC35F2-
-
-
-
0Del-
SLC35F4-
-
-
-
1Loss-
SLC35F6-
-
-
-
1Loss-
SLC35G1-
-
-
-
1Loss-
SLC35G3-
-
-
-
1Loss-
SLC35G5-
-
-
-
1Loss-
SLC35G6-
-
-
-
1Loss-
SLC36A4-
-
-
-
1Loss-
SLC37A2-
-
-
-
0Del-
SLC37A4-
-
-
-
0Del-
SLC38A1p.R452K
Missense
SNP
1.000
1Loss-
SLC38A2-
-
-
-
1Loss-
SLC38A4-
-
-
-
1Loss-
SLC38A6-
-
-
-
1Loss-
SLC39A12-
-
-
-
1Loss-
SLC39A13-
-
-
-
1Loss-
SLC39A14-
-
-
-
1Loss-
SLC39A2-
-
-
-
1Loss-
SLC39A3-
-
-
-
1Loss-
SLC39A5-
-
-
-
1Loss-
SLC39A8-
-
-
-
1Loss-
SLC39A9-
-
-
-
1Loss-
SLC3A1-
-
-
-
1Loss-
SLC3A2-
-
-
-
1Loss-
SLC41A2-
-
-
-
0Del-
SLC43A1-
-
-
-
1Loss-
SLC43A2-
-
-
-
1Loss-
SLC43A3-
-
-
-
1Loss-
SLC44A3-
-
-
-
3Gain-
SLC44A5p.E359K
Missense
SNP
0.517
3Gain-
SLC45A1-
-
-
-
3Gain-
SLC45A2-
-
-
-
1Loss-
SLC46A1-
-
-
-
1Loss-
SLC47A1-
-
-
-
1Loss-
SLC47A2-
-
-
-
1Loss-
SLC48A1-
-
-
-
1Loss-
SLC49A3-
-
-
-
1Loss-
SLC4A10p.M915I
Missense
SNP
0.644
2--
SLC4A11-
-
-
-
1Loss-
SLC4A1AP-
-
-
-
1Loss-
SLC4A4-
-
-
-
1Loss-
SLC4A5-
-
-
-
1Loss-
SLC4A7-
-
-
-
1Loss-
SLC4A8-
-
-
-
1Loss-
SLC52A1-
-
-
-
1Loss-
SLC52A3-
-
-
-
1Loss-
SLC5A1-
-
-
-
3Gain-
SLC5A10-
-
-
-
1Loss-
SLC5A12-
-
-
-
1Loss-
SLC5A4-
-
-
-
3Gain-
SLC5A6-
-
-
-
1Loss-
SLC5A8-
-
-
-
1Loss-
SLC5A9-
-
-
-
3Gain-
SLC6A1-
-
-
-
1Loss-
SLC6A11-
-
-
-
1Loss-
SLC6A15-
-
-
-
1Loss-
SLC6A17-
-
-
-
3Gain-
SLC6A18-
-
-
-
1Loss-
SLC6A19-
-
-
-
1Loss-
SLC6A3-
-
-
-
1Loss-
SLC6A4-
-
-
-
1Loss-
SLC6A5-
-
-
-
1Loss-
SLC6A6-
-
-
-
1Loss-
SLC6A9-
-
-
-
3Gain-
SLC7A11-
-
-
-
1Loss-
SLC7A2p.D206N
Missense
SNP
0.464
1Loss-
SLC7A7-
-
-
-
1Loss-
SLC7A8-
-
-
-
1Loss-
SLC8A1-
-
-
-
1Loss-
SLC8A3p.E436K
Missense
SNP
1.000
1Loss-
SLC8B1-
-
-
-
3Gain-
SLC9A1-
-
-
-
3Gain-
SLC9A3-
-
-
-
1Loss-
SLC9A8-
-
-
-
3Gain-
SLC9B1-
-
-
-
1Loss-
SLC9B2-
-
-
-
1Loss-
SLCO2B1-
-
-
-
1Loss-
SLCO4A1-
-
-
-
3Gain-
SLF2-
-
-
-
1Loss-
SLFN11-
-
-
-
1Loss-
SLFN12-
-
-
-
1Loss-
SLFN12L-
-
-
-
1Loss-
SLFN13-
-
-
-
1Loss-
SLFN14-
-
-
-
1Loss-
SLFN5-
-
-
-
1Loss-
SLFNL1-
-
-
-
3Gain-
SLIRP-
-
-
-
1Loss-
SLIT1-
-
-
-
1Loss-
SLIT2-
-
-
-
1Loss-
SLITRK1-
-
-
-
3Gain-
SLITRK5-
-
-
-
3Gain-
SLITRK6-
-
-
-
3Gain-
SLK-
-
-
-
1Loss-
SLN-
-
-
-
0Del-
SLPI-
-
-
-
3Gain-
SLX4IP-
-
-
-
1Loss-
SMAD1-
-
-
-
1Loss-
SMAD9p.P109L
Missense
SNP
1.000
2--
SMAGP-
-
-
-
1Loss-
SMAP2-
-
-
-
3Gain-
SMARCA5-
-
-
-
1Loss-
SMARCAD1-
-
-
-
1Loss-
SMARCC2-
-
-
-
1Loss-
SMARCD1-
-
-
-
1Loss-
SMC1B-
-
-
-
3Gain-
SMC3-
-
-
-
1Loss-
SMC6-
-
-
-
1Loss-
SMCO4-
-
-
-
1Loss-
SMCR8-
-
-
-
1Loss-
SMDT1-
-
-
-
3Gain-
SMG6-
-
-
-
1Loss-
SMIM1-
-
-
-
3Gain-
SMIM12-
-
-
-
3Gain-
SMIM14-
-
-
-
1Loss-
SMIM17-
-
-
-
3Gain-
SMIM18-
-
-
-
1Loss-
SMIM19-
-
-
-
1Loss-
SMIM20-
-
-
-
1Loss-
SMIM24-
-
-
-
1Loss-
SMIM26-
-
-
-
1Loss-
SMNDC1-
-
-
-
1Loss-
SMOC1-
-
-
-
1Loss-
SMOX-
-
-
-
1Loss-
SMPD1-
-
-
-
1Loss-
SMPDL3B-
-
-
-
3Gain-
SMR3A-
-
-
-
1Loss-
SMR3B-
-
-
-
1Loss-
SMTN-
-
-
-
3Gain-
SMTNL1-
-
-
-
1Loss-
SMTNL2-
-
-
-
1Loss-
SMUG1-
-
-
-
1Loss-
SMYD4-
-
-
-
1Loss-
SMYD5-
-
-
-
1Loss-
SNAI1-
-
-
-
3Gain-
SNAI2-
-
-
-
1Loss-
SNAP25-
-
-
-
1Loss-
SNAPC1-
-
-
-
1Loss-
SNCA-
-
-
-
1Loss-
SNCAIPp.E87K
p.G641E
Missense
Missense
SNP
SNP
0.333
0.672
2--
SNCG-
-
-
-
1Loss-
SNIP1-
-
-
-
3Gain-
SNPH-
-
-
-
1Loss-
SNRNP27-
-
-
-
1Loss-
SNRNP40-
-
-
-
3Gain-
SNRPB-
-
-
-
1Loss-
SNRPB2-
-
-
-
1Loss-
SNRPF-
-
-
-
1Loss-
SNRPG-
-
-
-
1Loss-
SNTA1-
-
-
-
3Gain-
SNTG1-
-
-
-
1Loss-
SNTG2p.E237K
Missense
SNP
0.500
1Loss-
SNU13-
-
-
-
3Gain-
SNW1-
-
-
-
1Loss-
SNX10-
-
-
-
3Gain-
SNX13-
-
-
-
3Gain-
SNX15-
-
-
-
1Loss-
SNX17-
-
-
-
1Loss-
SNX19-
-
-
-
0Del-
SNX21-
-
-
-
3Gain-
SNX25-
-
-
-
1Loss-
SNX32-
-
-
-
1Loss-
SNX5-
-
-
-
1Loss-
SNX6-
-
-
-
1Loss-
SNX7-
-
-
-
3Gain-
SNX8-
-
-
-
3Gain-
SOAT2-
-
-
-
1Loss-
SOCS2-
-
-
-
1Loss-
SOCS4-
-
-
-
1Loss-
SOCS5-
-
-
-
1Loss-
SOD3-
-
-
-
1Loss-
SOGA1-
-
-
-
3Gain-
SORBS1-
-
-
-
1Loss-
SORBS2-
-
-
-
1Loss-
SORBS3-
-
-
-
1Loss-
SORCS1-
-
-
-
1Loss-
SORCS2-
-
-
-
1Loss-
SORCS3p.S547F
p.E993K
Missense
Missense
SNP
SNP
0.473
0.463
1Loss-
SORL1-
-
-
-
0Del-
SORT1-
-
-
-
3Gain-
SOS1-
-
-
-
1Loss-
SOS2-
-
-
-
1Loss-
SOSTDC1-
-
-
-
3Gain-
SOWAHB-
-
-
-
1Loss-
SOX10-
-
-
-
3Gain-
SOX11-
-
-
-
1Loss-
SOX12-
-
-
-
1Loss-
SOX15-
-
-
-
1Loss-
SOX18-
-
-
-
3Gain-
SOX6-
-
-
-
1Loss-
SOX7-
-
-
-
1Loss-
SP1-
-
-
-
1Loss-
SP140p.D838N
Missense
SNP
0.326
2--
SP4-
-
-
-
3Gain-
SP7-
-
-
-
1Loss-
SP8-
-
-
-
3Gain-
SPA17-
-
-
-
0Del-
SPACA3-
-
-
-
1Loss-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAG17-
-
-
-
3Gain-
SPAG4-
-
-
-
3Gain-
SPAG5-
-
-
-
1Loss-
SPAG6-
-
-
-
1Loss-
SPAG7-
-
-
-
1Loss-
SPANXN2p.G172E
Missense
SNP
0.669
NDND-
SPANXN4p.S6F
Missense
SNP
1.000
NDND-
SPARCL1-
-
-
-
1Loss-
SPAST-
-
-
-
1Loss-
SPATA1-
-
-
-
3Gain-
SPATA18-
-
-
-
1Loss-
SPATA19-
-
-
-
0Del-
SPATA2-
-
-
-
3Gain-
SPATA21-
-
-
-
3Gain-
SPATA22p.E235K
Missense
SNP
1.000
1Loss-
SPATA25-
-
-
-
3Gain-
SPATA4-
-
-
-
1Loss-
SPATA48-
-
-
-
3Gain-
SPATA5-
-
-
-
1Loss-
SPATA6-
-
-
-
3Gain-
SPATA7-
-
-
-
1Loss-
SPATA8p.E18K
Missense
SNP
0.612
2--
SPATS2-
-
-
-
1Loss-
SPCS2-
-
-
-
1Loss-
SPCS3-
-
-
-
1Loss-
SPDYA-
-
-
-
1Loss-
SPDYC-
-
-
-
1Loss-
SPDYE4p.W81*
Nonsense
SNP
1.000
1Loss-
SPECC1-
-
-
-
1Loss-
SPEF1-
-
-
-
1Loss-
SPEF2p.M520I
p.E1521K
Missense
Missense
SNP
SNP
0.523
0.397
1Loss-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPEN-
-
-
-
3Gain-
SPI1-
-
-
-
1Loss-
SPICp.G80E
Missense
SNP
1.000
3Gain-
SPIDR-
-
-
-
1Loss-
SPINDOC-
-
-
-
1Loss-
SPINK2-
-
-
-
1Loss-
SPINT3-
-
-
-
3Gain-
SPINT4-
-
-
-
3Gain-
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SPO11-
-
-
-
3Gain-
SPOCD1-
-
-
-
3Gain-
SPOCK2-
-
-
-
1Loss-
SPOCK3-
-
-
-
1Loss-
SPON1-
-
-
-
1Loss-
SPON2-
-
-
-
1Loss-
SPP1-
-
-
-
1Loss-
SPP2p.S3F
Missense
SNP
0.604
2--
SPPL2B-
-
-
-
1Loss-
SPR-
-
-
-
1Loss-
SPRED2-
-
-
-
1Loss-
SPRN-
-
-
-
1Loss-
SPRY1-
-
-
-
1Loss-
SPRYD3-
-
-
-
1Loss-
SPRYD4-
-
-
-
1Loss-
SPSB1-
-
-
-
3Gain-
SPTA1p.G1497R
Missense
SNP
0.599
2--
SPTB-
-
-
-
1Loss-
SPTBN1-
-
-
-
1Loss-
SPTBN2-
-
-
-
1Loss-
SPTLC2-
-
-
-
1Loss-
SPTLC3p.G73E
Missense
SNP
0.987
1Loss-
SPTSSA-
-
-
-
1Loss-
SPTY2D1-
-
-
-
1Loss-
SPZ1p.S316L
Missense
SNP
0.683
2--
SRARP-
-
-
-
3Gain-
SRBD1-
-
-
-
1Loss-
SRC-
-
-
-
3Gain-
SRD5A1-
-
-
-
1Loss-
SRD5A2-
-
-
-
1Loss-
SRD5A3-
-
-
-
1Loss-
SREBF1-
-
-
-
1Loss-
SREBF2-
-
-
-
3Gain-
SRGAP1-
-
-
-
1Loss-
SRGAP2C-
-
-
-
3Gain-
SRGAP3-
-
-
-
1Loss-
SRGN-
-
-
-
1Loss-
SRM-
-
-
-
3Gain-
SRMS-
-
-
-
3Gain-
SRP54-
-
-
-
1Loss-
SRP72-
-
-
-
1Loss-
SRPRA-
-
-
-
0Del-
SRR-
-
-
-
1Loss-
SRRM1-
-
-
-
3Gain-
SRSF10-
-
-
-
3Gain-
SRSF11-
-
-
-
3Gain-
SRSF4-
-
-
-
3Gain-
SRSF5-
-
-
-
1Loss-
SRSF6-
-
-
-
3Gain-
SRSF7-
-
-
-
1Loss-
SRSF8-
-
-
-
1Loss-
SRXN1-
-
-
-
1Loss-
SS18L1-
-
-
-
3Gain-
SSBP3-
-
-
-
3Gain-
SSC5D-
-
-
-
3Gain-
SSH1-
-
-
-
3Gain-
SSH2-
-
-
-
1Loss-
SSH3-
-
-
-
1Loss-
SSRP1-
-
-
-
1Loss-
SSSCA1-
-
-
-
1Loss-
SSTR1-
-
-
-
1Loss-
SSTR3-
-
-
-
3Gain-
SSTR4-
-
-
-
1Loss-
SSU72-
-
-
-
3Gain-
SSU72P2-
-
-
-
1Loss-
SSU72P3-
-
-
-
1Loss-
SSU72P4-
-
-
-
1Loss-
SSU72P5-
-
-
-
1Loss-
SSUH2-
-
-
-
1Loss-
SSX2IP-
-
-
-
3Gain-
ST13-
-
-
-
3Gain-
ST14-
-
-
-
0Del-
ST18p.E810K
p.D449N
Missense
Missense
SNP
SNP
0.433
0.444
1Loss-
ST3GAL3-
-
-
-
3Gain-
ST3GAL4-
-
-
-
0Del-
ST3GAL5-
-
-
-
1Loss-
ST5-
-
-
-
1Loss-
ST6GALNAC3-
-
-
-
3Gain-
ST6GALNAC5-
-
-
-
3Gain-
ST7L-
-
-
-
3Gain-
ST8SIA5p.E102K
Missense
SNP
0.310
2--
ST8SIA6-
-
-
-
1Loss-
STAB2-
-
-
-
3Gain-
STAC3-
-
-
-
1Loss-
STAM-
-
-
-
1Loss-
STAMBP-
-
-
-
1Loss-
STAMBPL1-
-
-
-
1Loss-
STAP1-
-
-
-
1Loss-
STAP2-
-
-
-
1Loss-
STAR-
-
-
-
1Loss-
STARD10-
-
-
-
1Loss-
STARD3NL-
-
-
-
3Gain-
STAT2-
-
-
-
1Loss-
STAT6-
-
-
-
1Loss-
STATH-
-
-
-
1Loss-
STAU1-
-
-
-
3Gain-
STBD1-
-
-
-
1Loss-
STC1-
-
-
-
1Loss-
STEAP1B-
-
-
-
3Gain-
STIL-
-
-
-
3Gain-
STIM1-
-
-
-
1Loss-
STIM2-
-
-
-
1Loss-
STIP1-
-
-
-
1Loss-
STK11-
-
-
-
1Loss-
STK17A-
-
-
-
3Gain-
STK31p.G410R
Missense
SNP
0.423
3Gain-
STK32B-
-
-
-
1Loss-
STK32C-
-
-
-
1Loss-
STK33-
-
-
-
1Loss-
STK35-
-
-
-
1Loss-
STK4-
-
-
-
3Gain-
STK40-
-
-
-
3Gain-
STMN1-
-
-
-
3Gain-
STMN3-
-
-
-
3Gain-
STMN4-
-
-
-
1Loss-
STN1-
-
-
-
1Loss-
STON1-
-
-
-
1Loss-
STON1-GTF2A1L-
-
-
-
1Loss-
STON2-
-
-
-
1Loss-
STOX1-
-
-
-
1Loss-
STOX2-
-
-
-
1Loss-
STPG1-
-
-
-
3Gain-
STPG2-
-
-
-
1Loss-
STPG4-
-
-
-
1Loss-
STRIP1-
-
-
-
3Gain-
STRN-
-
-
-
1Loss-
STRN3-
-
-
-
1Loss-
STT3A-
-
-
-
0Del-
STT3B-
-
-
-
1Loss-
STX12-
-
-
-
3Gain-
STX16-
-
-
-
3Gain-
STX16-NPEPL1-
-
-
-
3Gain-
STX18-
-
-
-
1Loss-
STX3-
-
-
-
1Loss-
STX5-
-
-
-
1Loss-
STX8-
-
-
-
1Loss-
STXBP3-
-
-
-
3Gain-
STXBP5Lp.R815C
Missense
SNP
0.776
2--
STXBP6-
-
-
-
1Loss-
STYX-
-
-
-
1Loss-
SUB1-
-
-
-
1Loss-
SUCLG1-
-
-
-
1Loss-
SUDS3-
-
-
-
0Del-
SUFU-
-
-
-
1Loss-
SUGCT-
-
-
-
3Gain-
SULF2-
-
-
-
3Gain-
SULT1B1-
-
-
-
1Loss-
SULT1E1-
-
-
-
1Loss-
SULT2B1p.R295C
Missense
SNP
0.701
2--
SULT4A1-
-
-
-
3Gain-
SULT6B1-
-
-
-
1Loss-
SUMF1-
-
-
-
1Loss-
SUMF2-
-
-
-
3Gain-
SUN1-
-
-
-
3Gain-
SUN2-
-
-
-
3Gain-
SUN3-
-
-
-
3Gain-
SUN5-
-
-
-
3Gain-
SUOX-
-
-
-
1Loss-
SUPT16H-
-
-
-
1Loss-
SUPT6H-
-
-
-
1Loss-
SUPT7L-
-
-
-
1Loss-
SUPV3L1-
-
-
-
1Loss-
SUSD4p.S115F
Missense
SNP
0.681
2--
SUSD5-
-
-
-
1Loss-
SUSD6-
-
-
-
1Loss-
SUV39H2-
-
-
-
1Loss-
SUZ12-
-
-
-
1Loss-
SVBP-
-
-
-
3Gain-
SVEP1p.H407Y
Missense
SNP
0.700
2--
SVIL-
-
-
-
1Loss-
SVIP-
-
-
-
1Loss-
SVOP-
-
-
-
3Gain-
SWAP70-
-
-
-
1Loss-
SYCE1p.E184K
Missense
SNP
0.496
1Loss-
SYCE3-
-
-
-
3Gain-
SYCP1-
-
-
-
3Gain-
SYCP2-
-
-
-
3Gain-
SYCP3-
-
-
-
3Gain-
SYDE2-
-
-
-
3Gain-
SYF2-
-
-
-
3Gain-
SYN2-
-
-
-
1Loss-
SYN3p.G219S
Missense
SNP
1.000
3Gain-
SYNC-
-
-
-
3Gain-
SYNDIG1-
-
-
-
1Loss-
SYNDIG1L-
-
-
-
1Loss-
SYNE2-
-
-
-
1Loss-
SYNE3-
-
-
-
1Loss-
SYNGR1-
-
-
-
3Gain-
SYNGR4p.E30K
Missense
SNP
0.353
2--
SYNJ2BP-
-
-
-
1Loss-
SYNJ2BP-COX16-
-
-
-
1Loss-
SYNPO2-
-
-
-
1Loss-
SYNPO2L-
-
-
-
1Loss-
SYPL2-
-
-
-
3Gain-
SYS1-
-
-
-
3Gain-
SYS1-DBNDD2-
-
-
-
3Gain-
SYT1-
-
-
-
1Loss-
SYT12-
-
-
-
1Loss-
SYT13-
-
-
-
1Loss-
SYT14p.P159S
Missense
SNP
0.289
2--
SYT15-
-
-
-
1Loss-
SYT16-
-
-
-
1Loss-
SYT5-
-
-
-
3Gain-
SYT6-
-
-
-
3Gain-
SYT7-
-
-
-
1Loss-
SYT8-
-
-
-
1Loss-
SYT9-
-
-
-
1Loss-
SYTL1-
-
-
-
3Gain-
SYTL2-
-
-
-
1Loss-
SYVN1-
-
-
-
1Loss-
SZRD1-
-
-
-
3Gain-
SZT2p.P2080L
Missense
SNP
0.469
3Gain-
TAB1-
-
-
-
3Gain-
TAC3-
-
-
-
1Loss-
TACC1-
-
-
-
1Loss-
TACC2-
-
-
-
1Loss-
TACC3-
-
-
-
1Loss-
TACR1-
-
-
-
1Loss-
TACR2-
-
-
-
1Loss-
TACR3p.G102E
Missense
SNP
1.000
1Loss-
TACSTD2-
-
-
-
3Gain-
TADA2B-
-
-
-
1Loss-
TADA3-
-
-
-
1Loss-
TAF10-
-
-
-
1Loss-
TAF12-
-
-
-
3Gain-
TAF13-
-
-
-
3Gain-
TAF15-
-
-
-
1Loss-
TAF1B-
-
-
-
1Loss-
TAF1D-
-
-
-
1Loss-
TAF3-
-
-
-
1Loss-
TAF4-
-
-
-
3Gain-
TAF5-
-
-
-
1Loss-
TAF6L-
-
-
-
1Loss-
TAGLN-
-
-
-
0Del-
TAL1-
-
-
-
3Gain-
TALDO1-
-
-
-
1Loss-
TAMM41-
-
-
-
1Loss-
TAOK1-
-
-
-
1Loss-
TAOK3-
-
-
-
0Del-
TAPT1-
-
-
-
1Loss-
TARBP2-
-
-
-
1Loss-
TARDBP-
-
-
-
3Gain-
TARS-
-
-
-
1Loss-
TAS1R1-
-
-
-
3Gain-
TAS1R2-
-
-
-
3Gain-
TAS1R3-
-
-
-
3Gain-
TAS2R1-
-
-
-
1Loss-
TAS2R7p.S239F
Missense
SNP
0.658
2--
TASP1-
-
-
-
1Loss-
TATDN2-
-
-
-
1Loss-
TAX1BP1-
-
-
-
3Gain-
TAX1BP3-
-
-
-
1Loss-
TBATA-
-
-
-
1Loss-
TBC1D1-
-
-
-
1Loss-
TBC1D10A-
-
-
-
3Gain-
TBC1D10C-
-
-
-
1Loss-
TBC1D12-
-
-
-
1Loss-
TBC1D14-
-
-
-
1Loss-
TBC1D15-
-
-
-
1Loss-
TBC1D19-
-
-
-
1Loss-
TBC1D20-
-
-
-
1Loss-
TBC1D22A-
-
-
-
3Gain-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBC1D29-
-
-
-
1Loss-
TBC1D30-
-
-
-
1Loss-
TBC1D5-
-
-
-
1Loss-
TBC1D9-
-
-
-
1Loss-
TBCEL-
-
-
-
0Del-
TBCK-
-
-
-
1Loss-
TBK1-
-
-
-
1Loss-
TBPL2-
-
-
-
1Loss-
TBRG1-
-
-
-
0Del-
TBRG4-
-
-
-
3Gain-
TBX10-
-
-
-
1Loss-
TBX15-
-
-
-
3Gain-
TBX20p.Q426*
Nonsense
SNP
0.476
3Gain-
TBXA2R-
-
-
-
1Loss-
TC2N-
-
-
-
1Loss-
TCEA2-
-
-
-
3Gain-
TCEA3-
-
-
-
3Gain-
TCEANC2-
-
-
-
3Gain-
TCERG1L-
-
-
-
1Loss-
TCF15-
-
-
-
1Loss-
TCF20-
-
-
-
3Gain-
TCF23-
-
-
-
1Loss-
TCF3-
-
-
-
1Loss-
TCF7p.I178V
Missense
SNP
0.657
2--
TCF7L1-
-
-
-
1Loss-
TCF7L2-
-
-
-
1Loss-
TCFL5-
-
-
-
3Gain-
TCIM-
-
-
-
1Loss-
TCIRG1-
-
-
-
1Loss-
TCL1A-
-
-
-
1Loss-
TCL1B-
-
-
-
1Loss-
TCN1-
-
-
-
1Loss-
TCN2-
-
-
-
3Gain-
TCP11L1-
-
-
-
1Loss-
TCP11L2-
-
-
-
0Del-
TCTEX1D1-
-
-
-
3Gain-
TCTEX1D4-
-
-
-
3Gain-
TCTN3-
-
-
-
1Loss-
TDO2-
-
-
-
1Loss-
TDP1-
-
-
-
1Loss-
TDRD1-
-
-
-
1Loss-
TDRD15-
-
-
-
1Loss-
TDRD9-
-
-
-
1Loss-
TDRP-
-
-
-
1Loss-
TEAD1-
-
-
-
1Loss-
TEC-
-
-
-
1Loss-
TECPR2-
-
-
-
1Loss-
TECRL-
-
-
-
1Loss-
TECTA-
-
-
-
0Del-
TECTB-
-
-
-
1Loss-
TEDC1-
-
-
-
1Loss-
TEF-
-
-
-
3Gain-
TEFM-
-
-
-
1Loss-
TEKT1-
-
-
-
1Loss-
TEKT2-
-
-
-
3Gain-
TEKT3-
-
-
-
1Loss-
TEKT5p.E254K
Missense
SNP
0.406
2--
TENM1p.D439N
Missense
SNP
0.972
NDND-
TENM2p.E452K
Missense
SNP
0.385
2--
TENM3-
-
-
-
1Loss-
TENM4-
-
-
-
1Loss-
TENT4A-
-
-
-
1Loss-
TENT5B-
-
-
-
3Gain-
TENT5C-
-
-
-
3Gain-
TEP1-
-
-
-
1Loss-
TERT-
-
-
-
1Loss-
TESK2-
-
-
-
3Gain-
TESMIN-
-
-
-
1Loss-
TESPA1-
-
-
-
1Loss-
TET1-
-
-
-
1Loss-
TET2p.P929S
Missense
SNP
1.000
1Loss-
TET3-
-
-
-
1Loss-
TEX12-
-
-
-
0Del-
TEX13Bp.A73V
Missense
SNP
0.991
NDND-
TEX15p.S1064L
Missense
SNP
0.610
1Loss-
TEX22-
-
-
-
1Loss-
TEX261-
-
-
-
1Loss-
TEX33-
-
-
-
3Gain-
TEX36-
-
-
-
1Loss-
TEX38-
-
-
-
3Gain-
TEX46-
-
-
-
3Gain-
TEX49-
-
-
-
1Loss-
TFAM-
-
-
-
1Loss-
TFAP2C-
-
-
-
3Gain-
TFAP2E-
-
-
-
3Gain-
TFCP2-
-
-
-
1Loss-
TFPIp.R69K
Missense
SNP
0.613
2--
TGFA-
-
-
-
1Loss-
TGFB3-
-
-
-
1Loss-
TGFBR2-
-
-
-
1Loss-
TGFBR3-
-
-
-
3Gain-
TGIF2-
-
-
-
3Gain-
TGIF2-RAB5IF-
-
-
-
3Gain-
TGM1-
-
-
-
1Loss-
TGM2-
-
-
-
3Gain-
TGM3-
-
-
-
1Loss-
TGM6-
-
-
-
1Loss-
TGOLN2-
-
-
-
1Loss-
TH-
-
-
-
1Loss-
THADA-
-
-
-
1Loss-
THAP1-
-
-
-
1Loss-
THAP12-
-
-
-
1Loss-
THAP2-
-
-
-
1Loss-
THAP3-
-
-
-
3Gain-
THAP6-
-
-
-
1Loss-
THAP9-
-
-
-
1Loss-
THBD-
-
-
-
1Loss-
THBS1p.S386F
p.D407N
Missense
Missense
SNP
SNP
0.307
0.298
2--
THEG-
-
-
-
1Loss-
THEGL-
-
-
-
1Loss-
THEMISp.E275K
Missense
SNP
0.332
2--
THEMIS2-
-
-
-
3Gain-
THNSL1-
-
-
-
1Loss-
THOC1p.S67L
Missense
SNP
0.263
2--
THOP1-
-
-
-
1Loss-
THRAp.S330L
Missense
SNP
0.660
2--
THRAP3-
-
-
-
3Gain-
THRB-
-
-
-
1Loss-
THRSP-
-
-
-
1Loss-
THSD7A-
-
-
-
3Gain-
THSD7Bp.E157K
p.E410K
p.D1146N
p.E1180K
p.R1275Q
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
0.646
0.226
0.611
0.663
0.358
2--
THTPA-
-
-
-
1Loss-
THUMPD2-
-
-
-
1Loss-
THUMPD3-
-
-
-
1Loss-
THY1-
-
-
-
0Del-
THYN1-
-
-
-
0Del-
TIA1-
-
-
-
1Loss-
TIAF1-
-
-
-
1Loss-
TIAL1-
-
-
-
1Loss-
TICAM1-
-
-
-
1Loss-
TIE1-
-
-
-
3Gain-
TIFA-
-
-
-
1Loss-
TIGD2-
-
-
-
1Loss-
TIGD3-
-
-
-
1Loss-
TIGD4-
-
-
-
1Loss-
TIMELESS-
-
-
-
1Loss-
TIMM10-
-
-
-
1Loss-
TIMM10B-
-
-
-
1Loss-
TIMM13-
-
-
-
1Loss-
TIMM22-
-
-
-
1Loss-
TIMM23-
-
-
-
1Loss-
TIMM23B-
-
-
-
1Loss-
TIMM8B-
-
-
-
0Del-
TIMM9-
-
-
-
1Loss-
TIMP3-
-
-
-
3Gain-
TIMP4-
-
-
-
1Loss-
TINAGL1-
-
-
-
3Gain-
TINF2-
-
-
-
1Loss-
TIRAP-
-
-
-
0Del-
TJP3-
-
-
-
1Loss-
TKFC-
-
-
-
1Loss-
TKTL2-
-
-
-
1Loss-
TLCD1-
-
-
-
1Loss-
TLCD2-
-
-
-
1Loss-
TLDC2-
-
-
-
3Gain-
TLE2-
-
-
-
1Loss-
TLE6-
-
-
-
1Loss-
TLL1-
-
-
-
1Loss-
TLL2-
-
-
-
1Loss-
TLR1-
-
-
-
1Loss-
TLR10-
-
-
-
1Loss-
TLR2-
-
-
-
1Loss-
TLR3-
-
-
-
1Loss-
TLR6-
-
-
-
1Loss-
TLX1-
-
-
-
1Loss-
TLX2-
-
-
-
1Loss-
TM2D1-
-
-
-
3Gain-
TM2D2-
-
-
-
1Loss-
TM4SF5-
-
-
-
1Loss-
TM7SF2-
-
-
-
1Loss-
TM9SF1-
-
-
-
1Loss-
TM9SF3-
-
-
-
1Loss-
TM9SF4-
-
-
-
3Gain-
TMA16-
-
-
-
1Loss-
TMBIM4-
-
-
-
1Loss-
TMBIM6-
-
-
-
1Loss-
TMC2-
-
-
-
1Loss-
TMC4-
-
-
-
3Gain-
TMCC3-
-
-
-
1Loss-
TMCO2-
-
-
-
3Gain-
TMCO4-
-
-
-
3Gain-
TMED10-
-
-
-
1Loss-
TMED4-
-
-
-
3Gain-
TMED5-
-
-
-
3Gain-
TMED8-
-
-
-
1Loss-
TMEM102-
-
-
-
1Loss-
TMEM106B-
-
-
-
3Gain-
TMEM106C-
-
-
-
1Loss-
TMEM107-
-
-
-
1Loss-
TMEM109-
-
-
-
1Loss-
TMEM11-
-
-
-
1Loss-
TMEM116-
-
-
-
3Gain-
TMEM117-
-
-
-
1Loss-
TMEM121-
-
-
-
1Loss-
TMEM123-
-
-
-
0Del-
TMEM125-
-
-
-
3Gain-
TMEM126A-
-
-
-
1Loss-
TMEM126B-
-
-
-
1Loss-
TMEM128-
-
-
-
1Loss-
TMEM129-
-
-
-
1Loss-
TMEM131L-
-
-
-
1Loss-
TMEM132A-
-
-
-
1Loss-
TMEM132E-
-
-
-
1Loss-
TMEM134-
-
-
-
1Loss-
TMEM135-
-
-
-
1Loss-
TMEM136-
-
-
-
0Del-
TMEM138-
-
-
-
1Loss-
TMEM144-
-
-
-
1Loss-
TMEM150A-
-
-
-
1Loss-
TMEM150B-
-
-
-
3Gain-
TMEM150C-
-
-
-
1Loss-
TMEM151A-
-
-
-
1Loss-
TMEM154-
-
-
-
1Loss-
TMEM155-
-
-
-
1Loss-
TMEM156p.E288K
Missense
SNP
1.000
1Loss-
TMEM165-
-
-
-
1Loss-
TMEM167B-
-
-
-
3Gain-
TMEM17-
-
-
-
3Gain-
TMEM175-
-
-
-
1Loss-
TMEM178A-
-
-
-
1Loss-
TMEM179-
-
-
-
1Loss-
TMEM179B-
-
-
-
1Loss-
TMEM18-
-
-
-
1Loss-
TMEM184A-
-
-
-
3Gain-
TMEM184B-
-
-
-
3Gain-
TMEM184C-
-
-
-
1Loss-
TMEM189-
-
-
-
3Gain-
TMEM189-UBE2V1-
-
-
-
3Gain-
TMEM19-
-
-
-
1Loss-
TMEM190-
-
-
-
3Gain-
TMEM192-
-
-
-
1Loss-
TMEM196-
-
-
-
3Gain-
TMEM199-
-
-
-
1Loss-
TMEM200B-
-
-
-
3Gain-
TMEM201-
-
-
-
3Gain-
TMEM214-
-
-
-
1Loss-
TMEM216-
-
-
-
1Loss-
TMEM218-
-
-
-
0Del-
TMEM220-
-
-
-
1Loss-
TMEM222-
-
-
-
3Gain-
TMEM223-
-
-
-
1Loss-
TMEM225-
-
-
-
0Del-
TMEM229B-
-
-
-
1Loss-
TMEM230-
-
-
-
1Loss-
TMEM234-
-
-
-
3Gain-
TMEM236-
-
-
-
1Loss-
TMEM238-
-
-
-
3Gain-
TMEM239-
-
-
-
1Loss-
TMEM240-
-
-
-
3Gain-
TMEM247-
-
-
-
1Loss-
TMEM25-
-
-
-
0Del-
TMEM251-
-
-
-
1Loss-
TMEM253-
-
-
-
1Loss-
TMEM254-
-
-
-
1Loss-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM258-
-
-
-
1Loss-
TMEM259-
-
-
-
1Loss-
TMEM26-
-
-
-
1Loss-
TMEM260-
-
-
-
1Loss-
TMEM262-
-
-
-
1Loss-
TMEM263-
-
-
-
0Del-
TMEM267-
-
-
-
1Loss-
TMEM269-
-
-
-
3Gain-
TMEM273-
-
-
-
1Loss-
TMEM30B-
-
-
-
1Loss-
TMEM33-
-
-
-
1Loss-
TMEM35B-
-
-
-
3Gain-
TMEM39B-
-
-
-
3Gain-
TMEM40-
-
-
-
1Loss-
TMEM41B-
-
-
-
1Loss-
TMEM43-
-
-
-
1Loss-
TMEM45B-
-
-
-
0Del-
TMEM50A-
-
-
-
3Gain-
TMEM51-
-
-
-
3Gain-
TMEM52-
-
-
-
3Gain-
TMEM53-
-
-
-
3Gain-
TMEM54-
-
-
-
3Gain-
TMEM56-
-
-
-
3Gain-
TMEM56-RWDD3-
-
-
-
3Gain-
TMEM59-
-
-
-
3Gain-
TMEM61-
-
-
-
3Gain-
TMEM63C-
-
-
-
1Loss-
TMEM69-
-
-
-
3Gain-
TMEM72-
-
-
-
1Loss-
TMEM74B-
-
-
-
1Loss-
TMEM80-
-
-
-
1Loss-
TMEM82-
-
-
-
3Gain-
TMEM86A-
-
-
-
1Loss-
TMEM86B-
-
-
-
3Gain-
TMEM88-
-
-
-
1Loss-
TMEM88B-
-
-
-
3Gain-
TMEM95-
-
-
-
1Loss-
TMEM97-
-
-
-
1Loss-
TMEM98-
-
-
-
1Loss-
TMEM9B-
-
-
-
1Loss-
TMIGD1-
-
-
-
1Loss-
TMIGD2-
-
-
-
1Loss-
TMIGD3-
-
-
-
3Gain-
TMOD2p.R108C
Missense
SNP
0.346
2--
TMPO-
-
-
-
1Loss-
TMPPE-
-
-
-
1Loss-
TMPRSS11A-
-
-
-
1Loss-
TMPRSS11B-
-
-
-
1Loss-
TMPRSS11D-
-
-
-
1Loss-
TMPRSS11E-
-
-
-
1Loss-
TMPRSS11F-
-
-
-
1Loss-
TMPRSS12-
-
-
-
1Loss-
TMPRSS13-
-
-
-
0Del-
TMPRSS3p.D5N
Missense
SNP
0.640
2--
TMPRSS4-
-
-
-
0Del-
TMPRSS5-
-
-
-
0Del-
TMPRSS6-
-
-
-
3Gain-
TMPRSS9-
-
-
-
1Loss-
TMSB10-
-
-
-
1Loss-
TMTC2-
-
-
-
1Loss-
TMTC3-
-
-
-
1Loss-
TMX1-
-
-
-
1Loss-
TMX2-
-
-
-
1Loss-
TMX2-CTNND1-
-
-
-
1Loss-
TMX4-
-
-
-
1Loss-
TNFAIP1-
-
-
-
1Loss-
TNFAIP2-
-
-
-
1Loss-
TNFAIP8L1-
-
-
-
1Loss-
TNFRSF10A-
-
-
-
1Loss-
TNFRSF10B-
-
-
-
1Loss-
TNFRSF10C-
-
-
-
1Loss-
TNFRSF10D-
-
-
-
1Loss-
TNFRSF13B-
-
-
-
1Loss-
TNFRSF13C-
-
-
-
3Gain-
TNFRSF14-
-
-
-
3Gain-
TNFRSF18-
-
-
-
3Gain-
TNFRSF19-
-
-
-
1Loss-
TNFRSF1Ap.P337L
Missense
SNP
0.714
2--
TNFRSF1B-
-
-
-
3Gain-
TNFRSF25-
-
-
-
3Gain-
TNFRSF4-
-
-
-
3Gain-
TNFRSF6B-
-
-
-
3Gain-
TNFRSF8-
-
-
-
3Gain-
TNFRSF9-
-
-
-
3Gain-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF18p.S199F
Missense
SNP
0.367
2--
TNIP2-
-
-
-
1Loss-
TNIP3-
-
-
-
1Loss-
TNK1-
-
-
-
1Loss-
TNKS-
-
-
-
1Loss-
TNKS1BP1-
-
-
-
1Loss-
TNKS2-
-
-
-
1Loss-
TNNp.E80K
Missense
SNP
0.285
2--
TNNC2-
-
-
-
3Gain-
TNNI2-
-
-
-
1Loss-
TNNI3-
-
-
-
3Gain-
TNNI3K-
-
-
-
3Gain-
TNNT1p.R179W
Missense
SNP
0.490
3Gain-
TNNT3-
-
-
-
1Loss-
TNRC18-
-
-
-
3Gain-
TNRC6B-
-
-
-
3Gain-
TNS2-
-
-
-
1Loss-
TNS3-
-
-
-
3Gain-
TNXBp.P1697S
Missense
SNP
0.279
2--
TOB2-
-
-
-
3Gain-
TOE1-
-
-
-
3Gain-
TOGARAM1-
-
-
-
1Loss-
TOGARAM2-
-
-
-
1Loss-
TOLLIP-
-
-
-
1Loss-
TOM1-
-
-
-
3Gain-
TOM1L2-
-
-
-
1Loss-
TOMM20L-
-
-
-
1Loss-
TOMM22-
-
-
-
3Gain-
TOMM34-
-
-
-
3Gain-
TOMM7-
-
-
-
3Gain-
TOP1-
-
-
-
3Gain-
TOP2B-
-
-
-
1Loss-
TOP3A-
-
-
-
1Loss-
TOX2-
-
-
-
3Gain-
TOX4-
-
-
-
1Loss-
TP53p.P27S
Missense
SNP
1.000
1Loss-
TP53AIP1-
-
-
-
0Del-
TP53I11-
-
-
-
1Loss-
TP53I13-
-
-
-
1Loss-
TP53I3-
-
-
-
1Loss-
TP53INP2-
-
-
-
3Gain-
TP53RK-
-
-
-
3Gain-
TP53TG5-
-
-
-
3Gain-
TP73-
-
-
-
3Gain-
TPBGL-
-
-
-
1Loss-
TPCN1-
-
-
-
3Gain-
TPCN2-
-
-
-
1Loss-
TPD52L2-
-
-
-
3Gain-
TPGS1-
-
-
-
1Loss-
TPH1-
-
-
-
1Loss-
TPH2-
-
-
-
1Loss-
TPOp.E830K
Missense
SNP
0.504
1Loss-
TPP1-
-
-
-
1Loss-
TPPP-
-
-
-
1Loss-
TPPP2-
-
-
-
1Loss-
TPRG1L-
-
-
-
3Gain-
TPRKB-
-
-
-
1Loss-
TPTE-
-
-
-
1Loss-
TPTE2-
-
-
-
1Loss-
TPTEP2-CSNK1E-
-
-
-
3Gain-
TPX2-
-
-
-
3Gain-
TRA2Ap.R244C
Missense
SNP
0.512
3Gain-
TRABD-
-
-
-
3Gain-
TRABD2A-
-
-
-
1Loss-
TRABD2B-
-
-
-
3Gain-
TRAF3-
-
-
-
1Loss-
TRAF4-
-
-
-
1Loss-
TRAF6-
-
-
-
1Loss-
TRAFD1-
-
-
-
3Gain-
TRAM1L1-
-
-
-
1Loss-
TRANK1p.T1229A
Missense
SNP
0.659
2--
TRAPPC1-
-
-
-
1Loss-
TRAPPC11-
-
-
-
1Loss-
TRAPPC12-
-
-
-
1Loss-
TRAPPC3-
-
-
-
3Gain-
TRAPPC4-
-
-
-
0Del-
TRAPPC6B-
-
-
-
1Loss-
TRARG1-
-
-
-
1Loss-
TRDMT1-
-
-
-
1Loss-
TRDV1-
-
-
-
1Loss-
TREH-
-
-
-
0Del-
TRHDE-
-
-
-
1Loss-
TRIB2-
-
-
-
1Loss-
TRIB3-
-
-
-
1Loss-
TRIL-
-
-
-
3Gain-
TRIM16-
-
-
-
1Loss-
TRIM16L-
-
-
-
1Loss-
TRIM2-
-
-
-
1Loss-
TRIM21-
-
-
-
1Loss-
TRIM22-
-
-
-
1Loss-
TRIM29-
-
-
-
0Del-
TRIM3-
-
-
-
1Loss-
TRIM33-
-
-
-
3Gain-
TRIM35-
-
-
-
1Loss-
TRIM44-
-
-
-
1Loss-
TRIM45-
-
-
-
3Gain-
TRIM48-
-
-
-
1Loss-
TRIM49-
-
-
-
1Loss-
TRIM49B-
-
-
-
1Loss-
TRIM49C-
-
-
-
1Loss-
TRIM49D1-
-
-
-
1Loss-
TRIM49D2-
-
-
-
1Loss-
TRIM5-
-
-
-
1Loss-
TRIM51-
-
-
-
1Loss-
TRIM51GP-
-
-
-
1Loss-
TRIM54-
-
-
-
1Loss-
TRIM58p.E391K
Missense
SNP
0.260
2--
TRIM6-
-
-
-
1Loss-
TRIM6-TRIM34-
-
-
-
1Loss-
TRIM60-
-
-
-
1Loss-
TRIM61-
-
-
-
1Loss-
TRIM62-
-
-
-
3Gain-
TRIM63-
-
-
-
3Gain-
TRIM64Bp.V368I
Missense
SNP
0.176
1Loss-
TRIM64C-
-
-
-
1Loss-
TRIM66-
-
-
-
1Loss-
TRIM68-
-
-
-
1Loss-
TRIM71-
-
-
-
1Loss-
TRIM75P-
-
-
-
1Loss-
TRIM77-
-
-
-
1Loss-
TRIM8-
-
-
-
1Loss-
TRIM9-
-
-
-
1Loss-
TRIML1-
-
-
-
1Loss-
TRIML2-
-
-
-
1Loss-
TRIO-
-
-
-
1Loss-
TRIOBP-
-
-
-
3Gain-
TRIP11-
-
-
-
1Loss-
TRIP13-
-
-
-
1Loss-
TRIT1-
-
-
-
3Gain-
TRMT10A-
-
-
-
1Loss-
TRMT112-
-
-
-
1Loss-
TRMT13-
-
-
-
3Gain-
TRMT44-
-
-
-
1Loss-
TRMT5-
-
-
-
1Loss-
TRMT6-
-
-
-
1Loss-
TRMT61A-
-
-
-
1Loss-
TRMT61B-
-
-
-
1Loss-
TRMT9B-
-
-
-
1Loss-
TRMU-
-
-
-
3Gain-
TRNAU1AP-
-
-
-
3Gain-
TRNP1-
-
-
-
3Gain-
TRNT1-
-
-
-
1Loss-
TROAP-
-
-
-
1Loss-
TRPC3-
-
-
-
1Loss-
TRPC4APp.S660F
Missense
SNP
0.539
3Gain-
TRPC6-
-
-
-
0Del-
TRPM2p.P1350S
Missense
SNP
0.542
2--
TRPM5-
-
-
-
1Loss-
TRPT1-
-
-
-
1Loss-
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TRUB1-
-
-
-
1Loss-
TSEN2-
-
-
-
1Loss-
TSEN34-
-
-
-
3Gain-
TSFM-
-
-
-
1Loss-
TSG101-
-
-
-
1Loss-
TSGA10IP-
-
-
-
1Loss-
TSHB-
-
-
-
3Gain-
TSHR-
-
-
-
1Loss-
TSHZ2-
-
-
-
3Gain-
TSKU-
-
-
-
1Loss-
TSPAN1-
-
-
-
3Gain-
TSPAN13-
-
-
-
3Gain-
TSPAN14-
-
-
-
1Loss-
TSPAN15-
-
-
-
1Loss-
TSPAN18-
-
-
-
1Loss-
TSPAN19-
-
-
-
1Loss-
TSPAN2-
-
-
-
3Gain-
TSPAN31-
-
-
-
1Loss-
TSPAN32-
-
-
-
1Loss-
TSPAN4-
-
-
-
1Loss-
TSPAN5-
-
-
-
1Loss-
TSPAN8-
-
-
-
1Loss-
TSPO-
-
-
-
3Gain-
TSPYL6p.G125E
Missense
SNP
0.492
1Loss-
TSR1-
-
-
-
1Loss-
TSSC4-
-
-
-
1Loss-
TSSK3-
-
-
-
3Gain-
TSSK4-
-
-
-
1Loss-
TST-
-
-
-
3Gain-
TTC12-
-
-
-
0Del-
TTC17-
-
-
-
1Loss-
TTC19-
-
-
-
1Loss-
TTC22-
-
-
-
3Gain-
TTC23L-
-
-
-
1Loss-
TTC27-
-
-
-
1Loss-
TTC29-
-
-
-
1Loss-
TTC31-
-
-
-
1Loss-
TTC32-
-
-
-
1Loss-
TTC33-
-
-
-
1Loss-
TTC34-
-
-
-
3Gain-
TTC36-
-
-
-
0Del-
TTC38-
-
-
-
3Gain-
TTC39A-
-
-
-
3Gain-
TTC4-
-
-
-
3Gain-
TTC41P-
-
-
-
NDNDCRY1--TTC41P
TTC5-
-
-
-
1Loss-
TTC6-
-
-
-
1Loss-
TTC7A-
-
-
-
1Loss-
TTC7B-
-
-
-
1Loss-
TTC8-
-
-
-
1Loss-
TTC9-
-
-
-
1Loss-
TTC9C-
-
-
-
1Loss-
TTF2-
-
-
-
3Gain-
TTI1-
-
-
-
3Gain-
TTI2-
-
-
-
1Loss-
TTKp.S618F
Missense
SNP
0.460
2--
TTLL1-
-
-
-
3Gain-
TTLL10-
-
-
-
3Gain-
TTLL12-
-
-
-
3Gain-
TTLL3-
-
-
-
1Loss-
TTLL5-
-
-
-
1Loss-
TTLL7-
-
-
-
3Gain-
TTLL8-
-
-
-
3Gain-
TTLL9-
-
-
-
3Gain-
TTNp.D23559N
p.E18439K
p.G2600E
p.G1608E
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.314
0.321
0.239
0.295
2--
TTPAL-
-
-
-
3Gain-
TTYH1-
-
-
-
3Gain-
TTYH3-
-
-
-
3Gain-
TUBp.G31E
Missense
SNP
0.321
1Loss-
TUBA1A-
-
-
-
1Loss-
TUBA1B-
-
-
-
1Loss-
TUBA1C-
-
-
-
1Loss-
TUBA3C-
-
-
-
1Loss-
TUBAL3-
-
-
-
1Loss-
TUBB1-
-
-
-
3Gain-
TUBB8-
-
-
-
1Loss-
TUBGCP2-
-
-
-
1Loss-
TUBGCP6-
-
-
-
3Gain-
TUSC3-
-
-
-
1Loss-
TUT1-
-
-
-
1Loss-
TUT4-
-
-
-
3Gain-
TVP23B-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWF1-
-
-
-
1Loss-
TWIST1-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TWNK-
-
-
-
1Loss-
TXK-
-
-
-
1Loss-
TXLNA-
-
-
-
3Gain-
TXN2-
-
-
-
3Gain-
TXNDC12-
-
-
-
3Gain-
TXNDC16-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
TYMP-
-
-
-
3Gain-
TYR-
-
-
-
1Loss-
TYSND1-
-
-
-
1Loss-
TYW3-
-
-
-
3Gain-
U2AF2-
-
-
-
3Gain-
U2SURPp.R495C
Missense
SNP
0.714
2--
UBA6-
-
-
-
1Loss-
UBASH3B-
-
-
-
0Del-
UBB-
-
-
-
1Loss-
UBE2C-
-
-
-
3Gain-
UBE2D1-
-
-
-
1Loss-
UBE2D3-
-
-
-
1Loss-
UBE2D4-
-
-
-
3Gain-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2G1-
-
-
-
1Loss-
UBE2J2-
-
-
-
3Gain-
UBE2K-
-
-
-
1Loss-
UBE2L6-
-
-
-
1Loss-
UBE2N-
-
-
-
1Loss-
UBE2QL1-
-
-
-
1Loss-
UBE2S-
-
-
-
3Gain-
UBE2U-
-
-
-
3Gain-
UBE2V1-
-
-
-
3Gain-
UBE2V2-
-
-
-
1Loss-
UBE4A-
-
-
-
0Del-
UBE4Bp.H713Y
Missense
SNP
0.473
3Gain-
UBIAD1-
-
-
-
3Gain-
UBL4B-
-
-
-
3Gain-
UBOX5-
-
-
-
1Loss-
UBP1-
-
-
-
1Loss-
UBQLN3-
-
-
-
1Loss-
UBQLNLp.S112F
Missense
SNP
0.482
1Loss-
UBR4-
-
-
-
3Gain-
UBR7-
-
-
-
1Loss-
UBTD1-
-
-
-
1Loss-
UBTFL1-
-
-
-
1Loss-
UBXN1-
-
-
-
1Loss-
UBXN10-
-
-
-
3Gain-
UBXN11-
-
-
-
3Gain-
UBXN2A-
-
-
-
1Loss-
UBXN6-
-
-
-
1Loss-
UBXN8-
-
-
-
1Loss-
UCHL1-
-
-
-
1Loss-
UCKL1-
-
-
-
3Gain-
UCMA-
-
-
-
1Loss-
UCN-
-
-
-
1Loss-
UCN3-
-
-
-
1Loss-
UCP1-
-
-
-
1Loss-
UCP2-
-
-
-
1Loss-
UCP3-
-
-
-
1Loss-
UEVLD-
-
-
-
1Loss-
UFSP2-
-
-
-
1Loss-
UGDH-
-
-
-
1Loss-
UGP2-
-
-
-
1Loss-
UGT2A1p.G512E
Missense
SNP
0.991
1Loss-
UGT2A2-
-
-
-
1Loss-
UGT2A3-
-
-
-
1Loss-
UGT2B10-
-
-
-
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B15-
-
-
-
1Loss-
UGT2B17-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4p.M214I
Missense
SNP
1.000
1Loss-
UGT2B7-
-
-
-
1Loss-
UGT3A1p.G326E
Missense
SNP
0.352
1Loss-
UGT3A2-
-
-
-
1Loss-
UGT8-
-
-
-
1Loss-
UHRF1-
-
-
-
1Loss-
UHRF1BP1L-
-
-
-
1Loss-
ULBP3p.R205T
Missense
SNP
0.616
2--
ULK2-
-
-
-
1Loss-
UMAD1-
-
-
-
3Gain-
UNC119-
-
-
-
1Loss-
UNC13Ap.E557K
Missense
SNP
0.691
2--
UNC13Cp.R182Q
Missense
SNP
0.657
2--
UNC45B-
-
-
-
1Loss-
UNC5B-
-
-
-
1Loss-
UNC5C-
-
-
-
1Loss-
UNC5D-
-
-
-
1Loss-
UNC79-
-
-
-
1Loss-
UNC93B1-
-
-
-
1Loss-
UNCX-
-
-
-
3Gain-
UNG-
-
-
-
3Gain-
UNKp.Q230*
Nonsense
SNP
0.555
2--
UPF2-
-
-
-
1Loss-
UPK2-
-
-
-
0Del-
UPK3A-
-
-
-
3Gain-
UPP1-
-
-
-
3Gain-
UQCC1-
-
-
-
3Gain-
UQCC3-
-
-
-
1Loss-
UQCR11-
-
-
-
1Loss-
UQCRH-
-
-
-
3Gain-
UQCRHL-
-
-
-
3Gain-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
UROD-
-
-
-
3Gain-
UROS-
-
-
-
1Loss-
USH1C-
-
-
-
1Loss-
USH1Gp.E159K
Missense
SNP
0.684
2--
USH2Ap.S4619L
Missense
SNP
0.417
2--
USO1-
-
-
-
1Loss-
USP1-
-
-
-
3Gain-
USP15-
-
-
-
1Loss-
USP17L1-
-
-
-
1Loss-
USP17L13-
-
-
-
1Loss-
USP17L3-
-
-
-
1Loss-
USP17L4-
-
-
-
1Loss-
USP17L7-
-
-
-
1Loss-
USP17L8-
-
-
-
1Loss-
USP2-
-
-
-
0Del-
USP22-
-
-
-
1Loss-
USP24-
-
-
-
3Gain-
USP28-
-
-
-
0Del-
USP29-
-
-
-
3Gain-
USP30-
-
-
-
3Gain-
USP33-
-
-
-
3Gain-
USP34p.S2254L
Missense
SNP
0.876
1Loss-
USP35-
-
-
-
1Loss-
USP38-
-
-
-
1Loss-
USP39-
-
-
-
1Loss-
USP42-
-
-
-
3Gain-
USP43-
-
-
-
1Loss-
USP44-
-
-
-
1Loss-
USP46-
-
-
-
1Loss-
USP47-
-
-
-
1Loss-
USP48-
-
-
-
3Gain-
USP53-
-
-
-
1Loss-
USP54-
-
-
-
1Loss-
USP6-
-
-
-
1Loss-
USP6NL-
-
-
-
1Loss-
UTF1-
-
-
-
1Loss-
UTP11-
-
-
-
3Gain-
UTP20-
-
-
-
1Loss-
UTP3-
-
-
-
1Loss-
UTP6-
-
-
-
1Loss-
UTS2-
-
-
-
3Gain-
UVRAG-
-
-
-
1Loss-
UVSSA-
-
-
-
1Loss-
VAMP2-
-
-
-
1Loss-
VAMP3-
-
-
-
3Gain-
VAMP5-
-
-
-
1Loss-
VAMP8-
-
-
-
1Loss-
VANGL1-
-
-
-
3Gain-
VAPB-
-
-
-
3Gain-
VASH1-
-
-
-
1Loss-
VAV3-
-
-
-
3Gain-
VAX1-
-
-
-
1Loss-
VAX2-
-
-
-
1Loss-
VCAM1-
-
-
-
3Gain-
VCANp.P657S
Missense
SNP
0.340
2--
VCL-
-
-
-
1Loss-
VCPKMT-
-
-
-
1Loss-
VDAC2-
-
-
-
1Loss-
VDAC3-
-
-
-
1Loss-
VDR-
-
-
-
1Loss-
VEGFBp.P151S
Missense
SNP
0.421
1Loss-
VEGFC-
-
-
-
1Loss-
VENTX-
-
-
-
1Loss-
VEZT-
-
-
-
1Loss-
VGLL4-
-
-
-
1Loss-
VHL-
-
-
-
1Loss-
VIM-
-
-
-
1Loss-
VIPAS39-
-
-
-
1Loss-
VIT-
-
-
-
1Loss-
VMO1-
-
-
-
1Loss-
VNN1p.D340N
Missense
SNP
0.686
2--
VOPP1-
-
-
-
3Gain-
VPS11-
-
-
-
0Del-
VPS13Ap.S1891L
Missense
SNP
0.393
2--
VPS13Cp.E3139K
Missense
SNP
0.658
2--
VPS13D-
-
-
-
3Gain-
VPS16-
-
-
-
1Loss-
VPS26A-
-
-
-
1Loss-
VPS26B-
-
-
-
0Del-
VPS37A-
-
-
-
1Loss-
VPS37C-
-
-
-
1Loss-
VPS41-
-
-
-
3Gain-
VPS51-
-
-
-
1Loss-
VPS53-
-
-
-
1Loss-
VPS54-
-
-
-
1Loss-
VRK1-
-
-
-
1Loss-
VRK2-
-
-
-
1Loss-
VRTN-
-
-
-
1Loss-
VSIG10L2-
-
-
-
0Del-
VSIG2-
-
-
-
0Del-
VSIR-
-
-
-
1Loss-
VSNL1-
-
-
-
1Loss-
VSTM2A-
-
-
-
3Gain-
VSTM2L-
-
-
-
3Gain-
VSTM4p.G88R
Missense
SNP
0.392
1Loss-
VSTM5-
-
-
-
1Loss-
VSX1-
-
-
-
1Loss-
VSX2-
-
-
-
1Loss-
VTCN1-
-
-
-
3Gain-
VTI1A-
-
-
-
1Loss-
VTI1B-
-
-
-
1Loss-
VTN-
-
-
-
1Loss-
VWA1-
-
-
-
3Gain-
VWA2-
-
-
-
1Loss-
VWA5A-
-
-
-
0Del-
VWA5B1-
-
-
-
3Gain-
VWC2-
-
-
-
3Gain-
VWCE-
-
-
-
1Loss-
VWDE-
-
-
-
3Gain-
WAC-
-
-
-
1Loss-
WAPL-
-
-
-
1Loss-
WARS-
-
-
-
1Loss-
WARS2-
-
-
-
3Gain-
WASF2-
-
-
-
3Gain-
WASHC2A-
-
-
-
1Loss-
WASHC2C-
-
-
-
1Loss-
WASHC3-
-
-
-
3Gain-
WASHC4-
-
-
-
0Del-
WBP1-
-
-
-
1Loss-
WBP1L-
-
-
-
1Loss-
WBP2NL-
-
-
-
3Gain-
WBSCR17p.E507K
Missense
SNP
0.365
NDND-
WDCP-
-
-
-
1Loss-
WDFY3-
-
-
-
1Loss-
WDFY4-
-
-
-
1Loss-
WDHD1-
-
-
-
1Loss-
WDPCP-
-
-
-
1Loss-
WDR1-
-
-
-
1Loss-
WDR11-
-
-
-
1Loss-
WDR17-
-
-
-
1Loss-
WDR18-
-
-
-
1Loss-
WDR19-
-
-
-
1Loss-
WDR20-
-
-
-
1Loss-
WDR25-
-
-
-
1Loss-
WDR3-
-
-
-
3Gain-
WDR35-
-
-
-
1Loss-
WDR37-
-
-
-
1Loss-
WDR43-
-
-
-
1Loss-
WDR47-
-
-
-
3Gain-
WDR54-
-
-
-
1Loss-
WDR60p.R130Q
Missense
SNP
0.620
2--
WDR63-
-
-
-
3Gain-
WDR70-
-
-
-
1Loss-
WDR74-
-
-
-
1Loss-
WDR77-
-
-
-
3Gain-
WDR78-
-
-
-
3Gain-
WDR81-
-
-
-
1Loss-
WDR89-
-
-
-
1Loss-
WDR92-
-
-
-
1Loss-
WDTC1-
-
-
-
3Gain-
WEE1-
-
-
-
1Loss-
WFDC10A-
-
-
-
3Gain-
WFDC10B-
-
-
-
3Gain-
WFDC11-
-
-
-
3Gain-
WFDC12-
-
-
-
3Gain-
WFDC13-
-
-
-
3Gain-
WFDC2-
-
-
-
3Gain-
WFDC3-
-
-
-
3Gain-
WFDC5-
-
-
-
3Gain-
WFDC6-
-
-
-
3Gain-
WFDC8-
-
-
-
3Gain-
WFDC9-
-
-
-
3Gain-
WFS1-
-
-
-
1Loss-
WIF1-
-
-
-
1Loss-
WIPF2p.P182S
Missense
SNP
0.281
2--
WIPF3-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WISP2p.S182F
Missense
SNP
0.581
3Gain-
WLS-
-
-
-
3Gain-
WNT1p.S65N
Missense
SNP
0.996
1Loss-
WNT10B-
-
-
-
1Loss-
WNT11-
-
-
-
1Loss-
WNT2B-
-
-
-
3Gain-
WNT4-
-
-
-
3Gain-
WNT7A-
-
-
-
1Loss-
WNT7B-
-
-
-
3Gain-
WNT8B-
-
-
-
1Loss-
WRAP53-
-
-
-
1Loss-
WRAP73-
-
-
-
3Gain-
WRN-
-
-
-
1Loss-
WSB1-
-
-
-
1Loss-
WSCD1-
-
-
-
1Loss-
WT1-
-
-
-
1Loss-
WWC2-
-
-
-
1Loss-
XAF1-
-
-
-
1Loss-
XDHp.G1036E
Missense
SNP
0.443
1Loss-
XIRP1p.G1456E
Missense
SNP
0.274
2--
XIRP2p.E2674K
Missense
SNP
0.704
2--
XKR5-
-
-
-
1Loss-
XKR6-
-
-
-
1Loss-
XKR7-
-
-
-
3Gain-
XKR8-
-
-
-
3Gain-
XPC-
-
-
-
1Loss-
XPNPEP1-
-
-
-
1Loss-
XPNPEP3-
-
-
-
3Gain-
XPO1-
-
-
-
9Amp-
XPO4-
-
-
-
1Loss-
XPO7-
-
-
-
1Loss-
XPOT-
-
-
-
1Loss-
XRCC3-
-
-
-
1Loss-
XRCC6-
-
-
-
3Gain-
XRN2-
-
-
-
1Loss-
XRRA1-
-
-
-
1Loss-
YAE1-
-
-
-
3Gain-
YAF2-
-
-
-
1Loss-
YAP1-
-
-
-
0Del-
YARS-
-
-
-
3Gain-
YBX1-
-
-
-
3Gain-
YBX2-
-
-
-
1Loss-
YEATS4-
-
-
-
1Loss-
YIF1A-
-
-
-
1Loss-
YIPF1-
-
-
-
3Gain-
YIPF4-
-
-
-
1Loss-
YIPF7-
-
-
-
1Loss-
YJU2-
-
-
-
1Loss-
YKT6-
-
-
-
3Gain-
YLPM1-
-
-
-
1Loss-
YME1L1-
-
-
-
1Loss-
YPEL4-
-
-
-
1Loss-
YPEL5-
-
-
-
1Loss-
YRDC-
-
-
-
3Gain-
YTHDC1-
-
-
-
1Loss-
YTHDF1-
-
-
-
3Gain-
YTHDF2-
-
-
-
3Gain-
YWHAB-
-
-
-
3Gain-
YWHAE-
-
-
-
1Loss-
YWHAH-
-
-
-
3Gain-
YWHAQ-
-
-
-
1Loss-
YY1-
-
-
-
1Loss-
Z82190.2-
-
-
-
3Gain-
Z83844.1-
-
-
-
3Gain-
Z83844.3-
-
-
-
3Gain-
Z98752.3-
-
-
-
3Gain-
ZANp.P71L
Missense
SNP
1.000
2--
ZAR1-
-
-
-
1Loss-
ZBED4-
-
-
-
3Gain-
ZBED5-
-
-
-
1Loss-
ZBED9p.S1213L
Missense
SNP
0.300
2--
ZBP1-
-
-
-
3Gain-
ZBTB1-
-
-
-
1Loss-
ZBTB11p.S405F
Missense
SNP
0.403
2--
ZBTB16-
-
-
-
0Del-
ZBTB17-
-
-
-
3Gain-
ZBTB25-
-
-
-
1Loss-
ZBTB3-
-
-
-
1Loss-
ZBTB39-
-
-
-
1Loss-
ZBTB4-
-
-
-
1Loss-
ZBTB40-
-
-
-
3Gain-
ZBTB42-
-
-
-
1Loss-
ZBTB44-
-
-
-
0Del-
ZBTB46-
-
-
-
3Gain-
ZBTB48-
-
-
-
3Gain-
ZBTB49-
-
-
-
1Loss-
ZBTB7A-
-
-
-
1Loss-
ZBTB8A-
-
-
-
3Gain-
ZBTB8B-
-
-
-
3Gain-
ZBTB8OS-
-
-
-
3Gain-
ZC2HC1C-
-
-
-
1Loss-
ZC3H10-
-
-
-
1Loss-
ZC3H12A-
-
-
-
3Gain-
ZC3H12C-
-
-
-
0Del-
ZC3H14-
-
-
-
1Loss-
ZC3H4p.R266*
Nonsense
SNP
0.635
2--
ZC3H7B-
-
-
-
3Gain-
ZCCHC16p.S8L
Missense
SNP
0.983
NDND-
ZCCHC17-
-
-
-
3Gain-
ZCCHC24-
-
-
-
1Loss-
ZCCHC3-
-
-
-
1Loss-
ZCCHC4-
-
-
-
1Loss-
ZCRB1-
-
-
-
1Loss-
ZCWPW1p.R369C
Missense
SNP
0.323
2--
ZCWPW2-
-
-
-
1Loss-
ZDHHC11-
-
-
-
1Loss-
ZDHHC11B-
-
-
-
1Loss-
ZDHHC13-
-
-
-
1Loss-
ZDHHC16-
-
-
-
1Loss-
ZDHHC17-
-
-
-
1Loss-
ZDHHC18-
-
-
-
3Gain-
ZDHHC2-
-
-
-
1Loss-
ZDHHC20-
-
-
-
1Loss-
ZDHHC22-
-
-
-
1Loss-
ZDHHC24-
-
-
-
1Loss-
ZDHHC4-
-
-
-
3Gain-
ZDHHC5-
-
-
-
1Loss-
ZDHHC6-
-
-
-
1Loss-
ZEB1-
-
-
-
1Loss-
ZFAND2A-
-
-
-
3Gain-
ZFAND4-
-
-
-
1Loss-
ZFC3H1-
-
-
-
1Loss-
ZFHX2-
-
-
-
1Loss-
ZFHX4p.H196Y
p.S640L
p.H3025Y
p.R3441C
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.375
0.630
0.331
0.623
2--
ZFP28-
-
-
-
3Gain-
ZFP3-
-
-
-
1Loss-
ZFP36L1-
-
-
-
1Loss-
ZFP36L2-
-
-
-
1Loss-
ZFP42-
-
-
-
1Loss-
ZFP64p.S631F
Missense
SNP
0.500
3Gain-
ZFP69-
-
-
-
3Gain-
ZFP69B-
-
-
-
3Gain-
ZFP91-
-
-
-
1Loss-
ZFP91-CNTF-
-
-
-
1Loss-
ZFPL1-
-
-
-
1Loss-
ZFPM2p.P251S
p.D715N
p.H854Y
Missense
Missense
Missense
SNP
SNP
SNP
0.667
0.645
0.364
2--
ZFR-
-
-
-
1Loss-
ZFR2-
-
-
-
1Loss-
ZFYVE1-
-
-
-
1Loss-
ZFYVE21-
-
-
-
1Loss-
ZFYVE26-
-
-
-
1Loss-
ZFYVE27-
-
-
-
1Loss-
ZFYVE28-
-
-
-
1Loss-
ZFYVE9-
-
-
-
3Gain-
ZGPAT-
-
-
-
3Gain-
ZGRF1-
-
-
-
1Loss-
ZHX3-
-
-
-
3Gain-
ZIM2-
-
-
-
3Gain-
ZIM3-
-
-
-
3Gain-
ZKSCAN5p.P192S
Missense
SNP
0.634
2--
ZMAT4-
-
-
-
1Loss-
ZMIZ1-
-
-
-
1Loss-
ZMIZ2-
-
-
-
3Gain-
ZMPSTE24-
-
-
-
3Gain-
ZMYM1-
-
-
-
3Gain-
ZMYM2-
-
-
-
1Loss-
ZMYM4-
-
-
-
3Gain-
ZMYM5-
-
-
-
1Loss-
ZMYM6-
-
-
-
3Gain-
ZMYND11-
-
-
-
1Loss-
ZMYND12-
-
-
-
3Gain-
ZMYND15-
-
-
-
1Loss-
ZMYND8-
-
-
-
3Gain-
ZNF12-
-
-
-
3Gain-
ZNF131-
-
-
-
1Loss-
ZNF133-
-
-
-
1Loss-
ZNF141-
-
-
-
1Loss-
ZNF143-
-
-
-
1Loss-
ZNF18-
-
-
-
1Loss-
ZNF195-
-
-
-
1Loss-
ZNF202-
-
-
-
0Del-
ZNF207-
-
-
-
1Loss-
ZNF208p.R713K
Missense
SNP
0.528
NDND-
ZNF214-
-
-
-
1Loss-
ZNF215-
-
-
-
1Loss-
ZNF217-
-
-
-
3Gain-
ZNF219-
-
-
-
1Loss-
ZNF22-
-
-
-
1Loss-
ZNF232-
-
-
-
1Loss-
ZNF239-
-
-
-
1Loss-
ZNF248-
-
-
-
1Loss-
ZNF25-
-
-
-
1Loss-
ZNF264-
-
-
-
3Gain-
ZNF281p.P706S
Missense
SNP
0.319
2--
ZNF286A-
-
-
-
1Loss-
ZNF286B-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF300p.H587Y
Missense
SNP
0.607
2--
ZNF316-
-
-
-
3Gain-
ZNF32-
-
-
-
1Loss-
ZNF324Bp.R222C
Missense
SNP
0.484
2--
ZNF326-
-
-
-
3Gain-
ZNF330-
-
-
-
1Loss-
ZNF331p.S130F
Missense
SNP
0.357
2--
ZNF334-
-
-
-
3Gain-
ZNF335-
-
-
-
3Gain-
ZNF337-
-
-
-
1Loss-
ZNF33A-
-
-
-
1Loss-
ZNF33B-
-
-
-
1Loss-
ZNF341-
-
-
-
3Gain-
ZNF343-
-
-
-
1Loss-
ZNF354Bp.S306F
Missense
SNP
0.701
2--
ZNF362-
-
-
-
3Gain-
ZNF365-
-
-
-
1Loss-
ZNF37A-
-
-
-
1Loss-
ZNF385A-
-
-
-
1Loss-
ZNF385D-
-
-
-
1Loss-
ZNF395-
-
-
-
1Loss-
ZNF408-
-
-
-
1Loss-
ZNF410-
-
-
-
1Loss-
ZNF436-
-
-
-
3Gain-
ZNF438-
-
-
-
1Loss-
ZNF444-
-
-
-
3Gain-
ZNF470-
-
-
-
3Gain-
ZNF471-
-
-
-
3Gain-
ZNF479p.G517R
Missense
SNP
0.457
3Gain-
ZNF485-
-
-
-
1Loss-
ZNF487-
-
-
-
1Loss-
ZNF488-
-
-
-
1Loss-
ZNF503-
-
-
-
1Loss-
ZNF511-
-
-
-
1Loss-
ZNF511-PRAP1-
-
-
-
1Loss-
ZNF512-
-
-
-
1Loss-
ZNF512B-
-
-
-
3Gain-
ZNF513-
-
-
-
1Loss-
ZNF518A-
-
-
-
1Loss-
ZNF518B-
-
-
-
1Loss-
ZNF524-
-
-
-
3Gain-
ZNF536p.E448K
p.S1129F
Missense
Missense
SNP
SNP
0.376
0.648
2--
ZNF554-
-
-
-
1Loss-
ZNF555-
-
-
-
1Loss-
ZNF556-
-
-
-
1Loss-
ZNF57-
-
-
-
1Loss-
ZNF579-
-
-
-
3Gain-
ZNF580-
-
-
-
3Gain-
ZNF581-
-
-
-
3Gain-
ZNF582-
-
-
-
3Gain-
ZNF583p.E325K
Missense
SNP
0.496
3Gain-
ZNF585Bp.H236Y
Missense
SNP
0.367
2--
ZNF593-
-
-
-
3Gain-
ZNF594-
-
-
-
1Loss-
ZNF595-
-
-
-
1Loss-
ZNF596-
-
-
-
1Loss-
ZNF600p.H576Y
Missense
SNP
0.326
2--
ZNF622-
-
-
-
1Loss-
ZNF624-
-
-
-
1Loss-
ZNF628-
-
-
-
3Gain-
ZNF638-
-
-
-
1Loss-
ZNF641-
-
-
-
1Loss-
ZNF644-
-
-
-
3Gain-
ZNF648p.G341R
Missense
SNP
0.674
2--
ZNF652p.P517S
Missense
SNP
0.619
2--
ZNF667-
-
-
-
3Gain-
ZNF675p.P367L
Missense
SNP
0.343
NDND-
ZNF683-
-
-
-
3Gain-
ZNF684-
-
-
-
3Gain-
ZNF691-
-
-
-
3Gain-
ZNF697-
-
-
-
3Gain-
ZNF703-
-
-
-
1Loss-
ZNF71-
-
-
-
3Gain-
ZNF713-
-
-
-
3Gain-
ZNF716p.R400K
Missense
SNP
0.497
3Gain-
ZNF718-
-
-
-
1Loss-
ZNF721-
-
-
-
1Loss-
ZNF732-
-
-
-
1Loss-
ZNF740-
-
-
-
1Loss-
ZNF77-
-
-
-
1Loss-
ZNF784-
-
-
-
3Gain-
ZNF786p.G459V
Missense
SNP
0.655
2--
ZNF787-
-
-
-
3Gain-
ZNF799p.P405S
Missense
SNP
0.382
2--
ZNF804Bp.P34S
Missense
SNP
0.356
2--
ZNF827-
-
-
-
1Loss-
ZNF830-
-
-
-
1Loss-
ZNF831p.E216K
Missense
SNP
0.493
3Gain-
ZNF835-
-
-
-
3Gain-
ZNF839-
-
-
-
1Loss-
ZNF853-
-
-
-
3Gain-
ZNF860-
-
-
-
1Loss-
ZNF865-
-
-
-
3Gain-
ZNF99p.H447Y
Missense
SNP
0.671
NDND-
ZNFX1-
-
-
-
3Gain-
ZNHIT2-
-
-
-
1Loss-
ZNHIT3-
-
-
-
1Loss-
ZNHIT6-
-
-
-
3Gain-
ZNRF2-
-
-
-
3Gain-
ZP1-
-
-
-
1Loss-
ZPBP-
-
-
-
3Gain-
ZPR1-
-
-
-
0Del-
ZRANB1-
-
-
-
1Loss-
ZRANB2-
-
-
-
3Gain-
ZSCAN20-
-
-
-
3Gain-
ZSCAN5A-
-
-
-
3Gain-
ZSCAN5B-
-
-
-
3Gain-
ZSCAN5C-
-
-
-
3Gain-
ZSWIM1-
-
-
-
3Gain-
ZSWIM3-
-
-
-
3Gain-
ZSWIM5-
-
-
-
3Gain-
ZSWIM7-
-
-
-
1Loss-
ZSWIM8-
-
-
-
1Loss-
ZW10-
-
-
-
0Del-
ZWINT-
-
-
-
1Loss-
ZYG11A-
-
-
-
3Gain-
ZYG11B-
-
-
-
3Gain-
ZZEF1-
-
-
-
1Loss-