PDMR-843126~344-R~CFVX32-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1CF-
-
-
-
3GainND
A2Mp.P110L
Missense
SNP
0.370
2-ND
A4GALT-
-
-
-
3GainND
AADACp.E397K
Missense
SNP
0.362
2-ND
AAMDC-
-
-
-
1LossND
AANAT-
-
-
-
4GainND
AAR2p.R283W
Missense
SNP
0.559
2-ND
AARSD1-
-
-
-
4GainND
AASDHPPT-
-
-
-
1LossND
AASS-
-
-
-
3GainND
AATF-
-
-
-
3GainND
AATK-
-
-
-
4GainND
ABCA1-
-
-
-
1LossND
ABCA10-
-
-
-
3GainND
ABCA2-
-
-
-
1LossND
ABCA3p.D228N
Missense
SNP
0.461
2-ND
ABCA5-
-
-
-
3GainND
ABCA6-
-
-
-
3GainND
ABCA8-
-
-
-
3GainND
ABCA9p.R1133K
Missense
SNP
0.462
3GainND
ABCB4p.S99F
Missense
SNP
0.815
2-ND
ABCB5-
-
-
-
3GainND
ABCB8-
-
-
-
3GainND
ABCC2p.E1534K
Missense
SNP
1.000
1LossND
ABCC3-
-
-
-
4GainND
ABCC4p.S432F
Missense
SNP
0.457
2-ND
ABCC5p.P1183S
Missense
SNP
0.489
2-ND
ABCC8-
-
-
-
1LossND
ABCD4-
-
-
-
3GainND
ABCF2-
-
-
-
3GainND
ABCG4-
-
-
-
1LossND
ABHD12B-
-
-
-
3GainND
ABHD15-
-
-
-
4GainND
ABHD17B-
-
-
-
1LossND
ABHD4-
-
-
-
3GainND
ABI1-
-
-
-
3GainND
ABI3-
-
-
-
4GainND
ABL1-
-
-
-
1LossND
ABLIM1-
-
-
-
1LossND
ABLIM3-
-
-
-
3GainND
ABO-
-
-
-
1LossND
ABRAXAS2-
-
-
-
1LossND
ABTB2-
-
-
-
1LossND
AC002094.3-
-
-
-
4GainND
AC004080.3-
-
-
-
3GainND
AC004593.3-
-
-
-
3GainND
AC004687.2-
-
-
-
4GainND
AC004691.2-
-
-
-
3GainND
AC004805.1-
-
-
-
4GainND
AC004832.3-
-
-
-
3GainND
AC004997.1-
-
-
-
3GainND
AC005154.5-
-
-
-
3GainND
AC005520.1-
-
-
-
3GainND
AC005670.2-
-
-
-
4GainND
AC005697.1-
-
-
-
4GainND
AC005702.1-
-
-
-
4GainND
AC005726.1-
-
-
-
4GainND
AC005837.2-
-
-
-
4GainND
AC006978.2-
-
-
-
3GainND
AC007326.4-
-
-
-
3GainND
AC007375.1-
-
-
-
3GainND
AC007731.5-
-
-
-
3GainND
AC008575.1-
-
-
-
3GainND
AC008581.2-
-
-
-
1LossND
AC008676.3-
-
-
-
3GainND
AC008695.1-
-
-
-
3GainND
AC010132.3-
-
-
-
3GainND
AC010255.3-
-
-
-
3GainND
AC011005.1-
-
-
-
3GainND
AC011195.2-
-
-
-
4GainND
AC015688.4-
-
-
-
4GainND
AC015802.6-
-
-
-
4GainND
AC015813.2-
-
-
-
4GainND
AC018523.2-
-
-
-
1LossND
AC019117.2-
-
-
-
3GainND
AC021097.2-
-
-
-
3GainND
AC021097.3-
-
-
-
3GainND
AC022400.6-
-
-
-
3GainND
AC022414.1-
-
-
-
1LossND
AC026348.1p.P627S
Missense
SNP
0.412
NDNDND
AC026398.1-
-
-
-
3GainND
AC027644.4-
-
-
-
3GainND
AC046185.1-
-
-
-
4GainND
AC067752.1-
-
-
-
3GainND
AC068234.1-
-
-
-
4GainND
AC068533.4-
-
-
-
3GainND
AC068580.4-
-
-
-
1LossND
AC068896.1-
-
-
-
1LossND
AC073111.3-
-
-
-
3GainND
AC073111.5-
-
-
-
3GainND
AC073508.2-
-
-
-
4GainND
AC084337.2-
-
-
-
1LossND
AC087289.3-
-
-
-
4GainND
AC090360.1-
-
-
-
1LossND
AC091959.3-
-
-
-
3GainND
AC093668.1-
-
-
-
3GainND
AC093668.2-
-
-
-
3GainND
AC093668.3-
-
-
-
3GainND
AC099811.2-
-
-
-
4GainND
AC099850.2-
-
-
-
4GainND
AC104109.3-
-
-
-
3GainND
AC104389.4-
-
-
-
1LossND
AC104389.5-
-
-
-
1LossND
AC105052.1-
-
-
-
3GainND
AC105052.3-
-
-
-
3GainND
AC113348.2-
-
-
-
3GainND
AC113554.1-
-
-
-
4GainND
AC115220.1-
-
-
-
3GainND
AC116366.3-
-
-
-
3GainND
AC127029.3-
-
-
-
4GainND
AC134669.1-
-
-
-
4GainND
AC139491.7-
-
-
-
3GainND
AC139530.2-
-
-
-
4GainND
AC142391.1-
-
-
-
3GainND
AC187653.1-
-
-
-
3GainND
AC244517.10-
-
-
-
3GainND
AC253536.7-
-
-
-
3GainND
ACACA-
-
-
-
3GainND
ACAD10p.P297S
Missense
SNP
0.385
2-ND
ACAD8-
-
-
-
1LossND
ACADSB-
-
-
-
1LossND
ACANp.G1531E
Missense
SNP
0.559
2-ND
ACAT1-
-
-
-
1LossND
ACBD3-
-
-
-
1LossND
ACBD4-
-
-
-
4GainND
ACBD5-
-
-
-
3GainND
ACBD7-
-
-
-
3GainND
ACCS-
-
-
-
1LossND
ACCSL-
-
-
-
1LossND
ACDp.L62F
Missense
SNP
0.526
2-ND
ACEp.H863Y
Missense
SNP
0.444
4GainND
ACER2-
-
-
-
1LossND
ACER3-
-
-
-
1LossND
ACHE-
-
-
-
3GainND
ACIN1-
-
-
-
3GainND
ACLY-
-
-
-
4GainND
ACO1-
-
-
-
1LossND
ACO2-
-
-
-
3GainND
ACOT1-
-
-
-
3GainND
ACOT12-
-
-
-
1LossND
ACOT2-
-
-
-
3GainND
ACOT4-
-
-
-
3GainND
ACOT6-
-
-
-
3GainND
ACOX1-
-
-
-
4GainND
ACP2-
-
-
-
1LossND
ACR-
-
-
-
3GainND
ACRV1-
-
-
-
1LossND
ACSF2-
-
-
-
4GainND
ACSL5-
-
-
-
1LossND
ACSL6p.S196F
Missense
SNP
0.662
3GainND
ACSM6-
-
-
-
1LossND
ACSS3p.P532S
p.D544N
Missense
Missense
SNP
SNP
0.560
0.419
2-ND
ACTA2-
-
-
-
1LossND
ACTBL2-
-
-
-
1LossND
ACTG1-
-
-
-
4GainND
ACTL6B-
-
-
-
3GainND
ACTL7A-
-
-
-
1LossND
ACTL7B-
-
-
-
1LossND
ACTN1-
-
-
-
3GainND
ACTN2p.E581K
Missense
SNP
0.459
2-ND
ACTN3-
-
-
-
1LossND
ACTR10-
-
-
-
3GainND
ACTR1A-
-
-
-
1LossND
ACTR3B-
-
-
-
3GainND
ACTR3C-
-
-
-
3GainND
ACTRT1p.R119*
Nonsense
SNP
1.000
NDNDND
ACY3-
-
-
-
1LossND
ACYP1-
-
-
-
3GainND
ADAD1p.M88I
Missense
SNP
0.490
2-ND
ADAM11-
-
-
-
4GainND
ADAM12-
-
-
-
1LossND
ADAM19-
-
-
-
3GainND
ADAM2p.G592E
Missense
SNP
0.455
2-ND
ADAM20-
-
-
-
3GainND
ADAM21-
-
-
-
3GainND
ADAM23p.G458D
Missense
SNP
0.549
2-ND
ADAM29p.E719K
Missense
SNP
0.503
2-ND
ADAM7p.E414K
p.L570F
Missense
Missense
SNP
SNP
0.591
0.468
2-ND
ADAM8-
-
-
-
1LossND
ADAMDEC1p.S204L
Missense
SNP
0.508
2-ND
ADAMTS12-
-
-
-
1LossND
ADAMTS13-
-
-
-
1LossND
ADAMTS14-
-
-
-
3GainND
ADAMTS15-
-
-
-
1LossND
ADAMTS16-
-
-
-
1LossND
ADAMTS18p.E645K
p.H385Y
Missense
Missense
SNP
SNP
0.430
0.376
2-ND
ADAMTS19-
-
-
-
3GainND
ADAMTS2-
-
-
-
3GainND
ADAMTS20p.G1169E
p.S349F
Missense
Missense
SNP
SNP
0.554
0.419
2-ND
ADAMTS6-
-
-
-
1LossND
ADAMTS8-
-
-
-
1LossND
ADAMTS9p.R480Q
Missense
SNP
0.421
2-ND
ADAMTSL1-
-
-
-
1LossND
ADAMTSL2-
-
-
-
1LossND
ADAMTSL3p.P704L
p.H1542Y
Missense
Missense
SNP
SNP
0.384
0.441
2-ND
ADAP1-
-
-
-
3GainND
ADAP2-
-
-
-
4GainND
ADARB2-
-
-
-
3GainND
ADCK1-
-
-
-
3GainND
ADCY2-
-
-
-
1LossND
ADCY4-
-
-
-
3GainND
ADCY6p.G721D
Missense
SNP
0.491
2-ND
ADCY8p.S822F
Missense
SNP
0.557
2-ND
ADCYAP1R1-
-
-
-
3GainND
ADD2p.E494K
Missense
SNP
0.537
2-ND
ADD3-
-
-
-
1LossND
ADGRA1p.E403K
Missense
SNP
1.000
1LossND
ADGRB3p.E436K
p.S801L
p.S966L
Missense
Missense
Missense
SNP
SNP
SNP
0.468
0.590
0.531
2-ND
ADGRD2-
-
-
-
1LossND
ADGRE1p.P501L
Missense
SNP
1.000
2-ND
ADGRG4p.S287F
Missense
SNP
1.000
NDNDND
ADGRL3p.S978L
Missense
SNP
0.436
2-ND
ADGRV1p.S5551F
Missense
SNP
1.000
1LossND
ADH1Ap.D335N
Missense
SNP
0.434
2-ND
ADH1Cp.R219K
Missense
SNP
0.409
2-ND
ADH4p.G159E
Missense
SNP
0.490
2-ND
ADIRF-
-
-
-
1LossND
ADK-
-
-
-
3GainND
ADM-
-
-
-
1LossND
ADM2-
-
-
-
3GainND
ADNP2-
-
-
-
1LossND
ADO-
-
-
-
3GainND
ADORA2A-
-
-
-
3GainND
ADRA1B-
-
-
-
3GainND
ADRA2A-
-
-
-
1LossND
ADRB1-
-
-
-
1LossND
ADRB2-
-
-
-
3GainND
ADSL-
-
-
-
3GainND
ADSSL1-
-
-
-
3GainND
AEBP1-
-
-
-
3GainND
AFAP1L1-
-
-
-
3GainND
AFAP1L2-
-
-
-
1LossND
AFF3p.P355S
Missense
SNP
0.471
2-ND
AFF4-
-
-
-
3GainND
AFMID-
-
-
-
4GainND
AGAP3-
-
-
-
3GainND
AGBL1p.R965Q
Missense
SNP
0.399
2-ND
AGBL2-
-
-
-
1LossND
AGBL3p.E588K
Missense
SNP
0.289
3GainND
AGFG2-
-
-
-
3GainND
AGGF1-
-
-
-
1LossND
AGMOp.S425F
Missense
SNP
0.143
3GainND
AGPAT2-
-
-
-
1LossND
AGR2-
-
-
-
3GainND
AGR3-
-
-
-
3GainND
AGTPBP1-
-
-
-
1LossND
AGXT2-
-
-
-
1LossND
AHCYL2-
-
-
-
3GainND
AHNAK-
-
-
-
1LossND
AHNAK2p.A4287V
Missense
SNP
0.370
3GainND
AHR-
-
-
-
3GainND
AHRR-
-
-
-
1LossND
AHSA1-
-
-
-
3GainND
AIF1L-
-
-
-
1LossND
AIFM2-
-
-
-
3GainND
AIFM3p.M381I
Missense
SNP
0.707
3GainND
AIM1p.D1315N
p.E1498K
Missense
Missense
SNP
SNP
0.500
0.506
NDNDND
AIMP2-
-
-
-
3GainND
AIP-
-
-
-
1LossND
AJM1-
-
-
-
1LossND
AJUBA-
-
-
-
3GainND
AK1-
-
-
-
1LossND
AK3-
-
-
-
1LossND
AK6-
-
-
-
1LossND
AK7-
-
-
-
3GainND
AK8-
-
-
-
1LossND
AKAP1-
-
-
-
4GainND
AKAP10p.E462K
Missense
SNP
1.000
NDNDND
AKAP2-
-
-
-
1LossND
AKAP5-
-
-
-
3GainND
AKAP6-
-
-
-
3GainND
AKIP1-
-
-
-
1LossND
AKNA-
-
-
-
1LossND
AKR1B1-
-
-
-
3GainND
AKR1B10-
-
-
-
3GainND
AKR1B15-
-
-
-
3GainND
AKR1C1-
-
-
-
3GainND
AKR1C2-
-
-
-
3GainND
AKR1C3-
-
-
-
3GainND
AKR1C4-
-
-
-
3GainND
AKR1C8P-
-
-
-
3GainND
AKR1E2-
-
-
-
3GainND
AKT1-
-
-
-
3GainND
AL022238.4-
-
-
-
3GainND
AL022318.4-
-
-
-
3GainND
AL035078.4-
-
-
-
1LossND
AL049629.2-
-
-
-
1LossND
AL049779.1-
-
-
-
3GainND
AL049839.2-
-
-
-
3GainND
AL096870.1-
-
-
-
3GainND
AL110118.2-
-
-
-
3GainND
AL117339.5-
-
-
-
3GainND
AL117348.2-
-
-
-
1LossND
AL121594.1-
-
-
-
3GainND
AL132780.3-
-
-
-
3GainND
AL133352.1-
-
-
-
1LossND
AL133353.2-
-
-
-
1LossND
AL136295.1-
-
-
-
3GainND
AL136295.3-
-
-
-
3GainND
AL136295.4-
-
-
-
3GainND
AL136295.5-
-
-
-
3GainND
AL139300.1-
-
-
-
3GainND
AL139353.1-
-
-
-
3GainND
AL157392.5-
-
-
-
3GainND
AL157935.2-
-
-
-
1LossND
AL160269.1-
-
-
-
1LossND
AL160272.2-
-
-
-
1LossND
AL162417.1-
-
-
-
1LossND
AL163195.3-
-
-
-
3GainND
AL163636.2-
-
-
-
3GainND
AL355102.2-
-
-
-
3GainND
AL355315.1-
-
-
-
1LossND
AL355916.2-
-
-
-
3GainND
AL355987.1-
-
-
-
1LossND
AL355987.3-
-
-
-
1LossND
AL358113.1-
-
-
-
1LossND
AL359922.1-
-
-
-
1LossND
AL360181.3-
-
-
-
1LossND
AL365273.2-
-
-
-
1LossND
AL583836.1-
-
-
-
1LossND
AL672142.1-
-
-
-
1LossND
AL807752.6-
-
-
-
1LossND
AL807752.7-
-
-
-
1LossND
AL928654.3-
-
-
-
3GainND
AL929554.1-
-
-
-
1LossND
ALAD-
-
-
-
1LossND
ALBp.S311F
Missense
SNP
0.375
2-ND
ALCAMp.P179S
Missense
SNP
0.438
2-ND
ALDH18A1-
-
-
-
1LossND
ALDH1A1-
-
-
-
1LossND
ALDH3B1-
-
-
-
1LossND
ALDH3B2-
-
-
-
1LossND
ALDH6A1-
-
-
-
3GainND
ALDH7A1-
-
-
-
3GainND
ALDOB-
-
-
-
1LossND
ALDOC-
-
-
-
4GainND
ALG12-
-
-
-
3GainND
ALG2-
-
-
-
1LossND
ALG8-
-
-
-
1LossND
ALG9-
-
-
-
1LossND
ALKBH1-
-
-
-
3GainND
ALKBH3-
-
-
-
1LossND
ALKBH4-
-
-
-
3GainND
ALKBH8-
-
-
-
1LossND
ALOX5-
-
-
-
3GainND
ALPK2-
-
-
-
1LossND
ALPK3p.S1298F
Missense
SNP
0.602
2-ND
ALPPp.G473D
Missense
SNP
0.426
2-ND
ALPPL2p.E473K
Missense
SNP
0.424
NDNDND
ALX4-
-
-
-
1LossND
ALYREF-
-
-
-
4GainND
AMACR-
-
-
-
1LossND
AMBP-
-
-
-
1LossND
AMBRA1-
-
-
-
1LossND
AMIGO2p.R101C
Missense
SNP
0.459
2-ND
AMN-
-
-
-
3GainND
AMOTL1-
-
-
-
1LossND
AMPD3-
-
-
-
1LossND
AMPH-
-
-
-
3GainND
AMY2Bp.D140N
Missense
SNP
0.485
2-ND
AMZ1-
-
-
-
3GainND
AMZ2-
-
-
-
4GainND
ANAPC11-
-
-
-
4GainND
ANAPC15-
-
-
-
1LossND
ANAPC16-
-
-
-
3GainND
ANAPC2-
-
-
-
1LossND
ANG-
-
-
-
3GainND
ANGEL1-
-
-
-
3GainND
ANGPTL2-
-
-
-
1LossND
ANGPTL5-
-
-
-
1LossND
ANK3p.P2924L
Missense
SNP
0.276
3GainND
ANKDD1B-
-
-
-
1LossND
ANKFN1p.X439_splice
Splice_Site
SNP
0.459
4GainND
ANKH-
-
-
-
1LossND
ANKHD1-
-
-
-
3GainND
ANKHD1-EIF4EBP3-
-
-
-
3GainND
ANKK1-
-
-
-
1LossND
ANKMY2-
-
-
-
3GainND
ANKRA2-
-
-
-
1LossND
ANKRD1-
-
-
-
1LossND
ANKRD13B-
-
-
-
4GainND
ANKRD13D-
-
-
-
1LossND
ANKRD16-
-
-
-
3GainND
ANKRD18B-
-
-
-
1LossND
ANKRD2-
-
-
-
1LossND
ANKRD22-
-
-
-
1LossND
ANKRD26-
-
-
-
3GainND
ANKRD30Ap.E133K
p.G356E
p.E1047K
Missense
Missense
Missense
SNP
SNP
SNP
0.519
0.636
0.339
3GainND
ANKRD30Bp.G84S
Missense
SNP
0.462
2-ND
ANKRD31-
-
-
-
1LossND
ANKRD33B-
-
-
-
1LossND
ANKRD34B-
-
-
-
1LossND
ANKRD40-
-
-
-
4GainND
ANKRD40CL-
-
-
-
4GainND
ANKRD42-
-
-
-
1LossND
ANKRD49-
-
-
-
1LossND
ANKRD54-
-
-
-
3GainND
ANKRD55-
-
-
-
1LossND
ANKRD61-
-
-
-
3GainND
ANKRD62p.E642K
Missense
SNP
0.472
2-ND
ANKRD7-
-
-
-
3GainND
ANKRD9-
-
-
-
3GainND
ANKS1Bp.L28F
Missense
SNP
0.369
2-ND
ANKS6-
-
-
-
1LossND
ANLN-
-
-
-
3GainND
ANO1-
-
-
-
1LossND
ANO3-
-
-
-
1LossND
ANO4p.G82E
p.L780F
Missense
Missense
SNP
SNP
0.489
0.417
2-ND
ANO5-
-
-
-
1LossND
ANO7p.R2Q
Missense
SNP
0.570
2-ND
ANO9-
-
-
-
1LossND
ANP32B-
-
-
-
1LossND
ANTXRL-
-
-
-
3GainND
ANXA1-
-
-
-
1LossND
ANXA11-
-
-
-
1LossND
ANXA2R-
-
-
-
1LossND
ANXA6-
-
-
-
3GainND
ANXA7-
-
-
-
3GainND
ANXA8-
-
-
-
3GainND
ANXA8L1-
-
-
-
3GainND
AOAHp.G306E
Missense
SNP
0.725
3GainND
AOC1-
-
-
-
3GainND
AOC2-
-
-
-
4GainND
AOC3-
-
-
-
4GainND
AP000350.4-
-
-
-
3GainND
AP000646.1-
-
-
-
1LossND
AP000721.1-
-
-
-
1LossND
AP000781.2-
-
-
-
1LossND
AP000812.4-
-
-
-
1LossND
AP000812.5-
-
-
-
1LossND
AP000944.2-
-
-
-
1LossND
AP001267.5-
-
-
-
1LossND
AP001273.2-
-
-
-
1LossND
AP001458.2-
-
-
-
1LossND
AP001781.2-
-
-
-
1LossND
AP001931.1-
-
-
-
1LossND
AP002373.1-
-
-
-
1LossND
AP002495.1-
-
-
-
1LossND
AP002512.3-
-
-
-
1LossND
AP002748.4-
-
-
-
1LossND
AP002884.3-
-
-
-
1LossND
AP002990.1-
-
-
-
1LossND
AP003108.2-
-
-
-
1LossND
AP003419.1-
-
-
-
1LossND
AP1B1-
-
-
-
3GainND
AP1G2-
-
-
-
3GainND
AP1S1-
-
-
-
3GainND
AP2A2-
-
-
-
1LossND
AP2B1-
-
-
-
3GainND
AP3B1-
-
-
-
1LossND
AP3M1-
-
-
-
3GainND
AP3S1-
-
-
-
3GainND
AP4M1-
-
-
-
3GainND
AP4S1-
-
-
-
3GainND
AP5B1-
-
-
-
1LossND
AP5M1-
-
-
-
3GainND
APBA1-
-
-
-
1LossND
APBB1-
-
-
-
1LossND
APBB1IPp.V179I
Missense
SNP
0.574
3GainND
APBB3-
-
-
-
3GainND
APC-
-
-
-
3GainND
APCSp.D157N
Missense
SNP
0.494
2-ND
APEX1-
-
-
-
3GainND
API5-
-
-
-
1LossND
APIP-
-
-
-
1LossND
APLFp.D122N
Missense
SNP
0.500
2-ND
APLNR-
-
-
-
1LossND
APLP2-
-
-
-
1LossND
APOA1-
-
-
-
1LossND
APOA4-
-
-
-
1LossND
APOA5-
-
-
-
1LossND
APOBp.E4215K
p.D2993N
Missense
Missense
SNP
SNP
0.441
0.507
2-ND
APOBEC3A-
-
-
-
3GainND
APOBEC3B-
-
-
-
3GainND
APOBEC3C-
-
-
-
3GainND
APOBEC3D-
-
-
-
3GainND
APOBEC3F-
-
-
-
3GainND
APOBEC3G-
-
-
-
3GainND
APOBEC3H-
-
-
-
3GainND
APOBRp.E833K
Missense
SNP
0.545
2-ND
APOC3-
-
-
-
1LossND
APOH-
-
-
-
4GainND
APOL1-
-
-
-
3GainND
APOL2-
-
-
-
3GainND
APOL3-
-
-
-
3GainND
APOL4-
-
-
-
3GainND
APOL5-
-
-
-
3GainND
APOL6-
-
-
-
3GainND
APOPT1-
-
-
-
3GainND
APPBP2-
-
-
-
4GainND
APTX-
-
-
-
1LossND
AQP1-
-
-
-
3GainND
AQP11-
-
-
-
1LossND
AQP3-
-
-
-
1LossND
AQP7-
-
-
-
1LossND
ARAFp.P219S
Missense
SNP
1.000
NDNDND
ARAP1-
-
-
-
1LossND
ARAP2p.R1628Q
p.E618K
Missense
Missense
SNP
SNP
0.443
0.394
2-ND
ARAP3-
-
-
-
3GainND
ARCN1-
-
-
-
1LossND
AREL1-
-
-
-
3GainND
ARF1-
-
-
-
1LossND
ARF5-
-
-
-
3GainND
ARF6-
-
-
-
3GainND
ARFGAP2-
-
-
-
1LossND
ARFGAP3-
-
-
-
3GainND
ARFGEF3p.E498K
Missense
SNP
0.488
2-ND
ARFIP2-
-
-
-
1LossND
ARG2-
-
-
-
3GainND
ARHGAP1-
-
-
-
1LossND
ARHGAP12-
-
-
-
3GainND
ARHGAP15p.S4F
Missense
SNP
0.500
2-ND
ARHGAP19-
-
-
-
1LossND
ARHGAP19-SLIT1-
-
-
-
1LossND
ARHGAP20-
-
-
-
1LossND
ARHGAP21p.S642L
Missense
SNP
0.635
3GainND
ARHGAP22-
-
-
-
3GainND
ARHGAP23-
-
-
-
4GainND
ARHGAP24p.R175*
Nonsense
SNP
0.430
2-ND
ARHGAP26-
-
-
-
3GainND
ARHGAP27-
-
-
-
4GainND
ARHGAP32-
-
-
-
1LossND
ARHGAP42-
-
-
-
1LossND
ARHGAP5-
-
-
-
3GainND
ARHGAP8-
-
-
-
3GainND
ARHGDIA-
-
-
-
4GainND
ARHGEF12-
-
-
-
1LossND
ARHGEF17-
-
-
-
1LossND
ARHGEF28-
-
-
-
1LossND
ARHGEF37-
-
-
-
3GainND
ARHGEF40-
-
-
-
3GainND
ARHGEF5p.R1519*
Nonsense
SNP
0.726
3GainND
ARID1Ap.M872T
Missense
SNP
0.513
2-ND
ARID4Ap.E564Q
Missense
SNP
0.624
3GainND
ARID5Bp.P1114L
Missense
SNP
0.652
3GainND
ARL10-
-
-
-
3GainND
ARL14EP-
-
-
-
1LossND
ARL14EPL-
-
-
-
3GainND
ARL15-
-
-
-
1LossND
ARL16-
-
-
-
4GainND
ARL2-
-
-
-
1LossND
ARL2-SNX15-
-
-
-
1LossND
ARL3-
-
-
-
1LossND
ARL4A-
-
-
-
3GainND
ARL4D-
-
-
-
4GainND
ARL5B-
-
-
-
3GainND
ARL5C-
-
-
-
4GainND
ARMC10-
-
-
-
3GainND
ARMC3-
-
-
-
3GainND
ARMC4p.R609C
Missense
SNP
0.293
3GainND
ARMC7-
-
-
-
4GainND
ARMH3-
-
-
-
1LossND
ARMH4-
-
-
-
3GainND
ARMS2-
-
-
-
1LossND
ARNTL-
-
-
-
1LossND
ARPC5L-
-
-
-
1LossND
ARRB1-
-
-
-
1LossND
ARRDC1-
-
-
-
1LossND
ARRDC3-
-
-
-
1LossND
ARSA-
-
-
-
3GainND
ARSB-
-
-
-
1LossND
ARSG-
-
-
-
4GainND
ARSI-
-
-
-
3GainND
ARSK-
-
-
-
1LossND
ART1-
-
-
-
1LossND
ART3p.L317F
Missense
SNP
0.451
2-ND
ART5-
-
-
-
1LossND
ARVCF-
-
-
-
3GainND
AS3MT-
-
-
-
1LossND
ASAH2-
-
-
-
3GainND
ASAH2B-
-
-
-
3GainND
ASAP2p.S966F
Missense
SNP
0.520
2-ND
ASB10-
-
-
-
3GainND
ASB13-
-
-
-
3GainND
ASB15-
-
-
-
3GainND
ASB16-
-
-
-
4GainND
ASB2-
-
-
-
3GainND
ASB6-
-
-
-
1LossND
ASCC1-
-
-
-
3GainND
ASCC2-
-
-
-
3GainND
ASCL2-
-
-
-
1LossND
ASCL3-
-
-
-
1LossND
ASIC2-
-
-
-
3GainND
ASIC3-
-
-
-
3GainND
ASL-
-
-
-
3GainND
ASPG-
-
-
-
3GainND
ASPHD2-
-
-
-
3GainND
ASPN-
-
-
-
1LossND
ASPSCR1-
-
-
-
4GainND
ASRGL1-
-
-
-
1LossND
ASS1-
-
-
-
1LossND
ASTN1p.D896N
Missense
SNP
0.597
2-ND
ASTN2-
-
-
-
1LossND
ASZ1-
-
-
-
3GainND
ATAD1-
-
-
-
1LossND
ATAD5-
-
-
-
4GainND
ATE1-
-
-
-
1LossND
ATF4-
-
-
-
3GainND
ATG10-
-
-
-
1LossND
ATG12-
-
-
-
3GainND
ATG13-
-
-
-
1LossND
ATG14-
-
-
-
3GainND
ATG16L2-
-
-
-
1LossND
ATG2A-
-
-
-
1LossND
ATG2Bp.R755C
Missense
SNP
0.381
3GainND
ATG9B-
-
-
-
3GainND
ATL1p.R217*
Nonsense
SNP
0.691
3GainND
ATL3-
-
-
-
1LossND
ATM-
-
-
-
1LossND
ATOH7-
-
-
-
3GainND
ATOX1-
-
-
-
3GainND
ATP10B-
-
-
-
3GainND
ATP10Dp.Q58*
Nonsense
SNP
0.562
2-ND
ATP12Ap.R713W
Missense
SNP
0.362
2-ND
ATP13A5p.P961L
Missense
SNP
0.521
2-ND
ATP1A3p.N800S
Missense
SNP
1.000
2-ND
ATP2B1p.S360F
Missense
SNP
0.468
2-ND
ATP5F1C-
-
-
-
3GainND
ATP5MC1-
-
-
-
4GainND
ATP5MD-
-
-
-
1LossND
ATP5MG-
-
-
-
1LossND
ATP5MGL-
-
-
-
3GainND
ATP5MPL-
-
-
-
3GainND
ATP5PD-
-
-
-
4GainND
ATP5S-
-
-
-
3GainND
ATP6AP1L-
-
-
-
1LossND
ATP6V0A1-
-
-
-
4GainND
ATP6V0E1-
-
-
-
3GainND
ATP6V0E2-
-
-
-
3GainND
ATP6V1D-
-
-
-
3GainND
ATP6V1F-
-
-
-
3GainND
ATP6V1FNB-
-
-
-
3GainND
ATP6V1G1-
-
-
-
1LossND
ATP8A2p.E1108K
Missense
SNP
0.444
2-ND
ATP8B1-
-
-
-
1LossND
ATP8B3p.E1216K
Missense
SNP
1.000
2-ND
ATP9B-
-
-
-
1LossND
ATRNL1-
-
-
-
1LossND
ATXN10-
-
-
-
3GainND
ATXN3-
-
-
-
3GainND
ATXN7L1-
-
-
-
3GainND
ATXN7L3-
-
-
-
4GainND
AUH-
-
-
-
1LossND
AVL9-
-
-
-
3GainND
AVPI1-
-
-
-
1LossND
AXDND1p.E693K
Missense
SNP
0.476
2-ND
AXIN2-
-
-
-
4GainND
B3GAT1-
-
-
-
1LossND
B3GAT3-
-
-
-
1LossND
B3GNT6-
-
-
-
1LossND
B3GNTL1-
-
-
-
4GainND
B4GALNT2-
-
-
-
4GainND
B4GALNT4-
-
-
-
1LossND
B4GALT1-
-
-
-
1LossND
B4GALT7-
-
-
-
3GainND
B4GAT1-
-
-
-
1LossND
BAAT-
-
-
-
1LossND
BACE1-
-
-
-
1LossND
BAD-
-
-
-
1LossND
BAG1-
-
-
-
1LossND
BAG3-
-
-
-
1LossND
BAG5-
-
-
-
3GainND
BAHCC1-
-
-
-
4GainND
BAIAP2-
-
-
-
4GainND
BAIAP2L2-
-
-
-
3GainND
BAIAP3p.G317S
Missense
SNP
0.462
2-ND
BAMBI-
-
-
-
3GainND
BANF1-
-
-
-
1LossND
BARHL1-
-
-
-
1LossND
BARX1-
-
-
-
1LossND
BARX2-
-
-
-
1LossND
BASP1-
-
-
-
1LossND
BATF-
-
-
-
3GainND
BATF2-
-
-
-
1LossND
BAZ1A-
-
-
-
3GainND
BBIP1-
-
-
-
1LossND
BBOF1-
-
-
-
3GainND
BBOX1-
-
-
-
1LossND
BBS1-
-
-
-
1LossND
BBS9-
-
-
-
3GainND
BCAP29-
-
-
-
3GainND
BCAS3-
-
-
-
4GainND
BCCIP-
-
-
-
1LossND
BCL11B-
-
-
-
3GainND
BCL2-
-
-
-
1LossND
BCL2L2-
-
-
-
3GainND
BCL2L2-PABPN1-
-
-
-
3GainND
BCL9L-
-
-
-
1LossND
BCLAF1p.E270K
Missense
SNP
0.127
2-ND
BCO2-
-
-
-
1LossND
BCR-
-
-
-
3GainND
BDKRB1-
-
-
-
3GainND
BDKRB2p.R196Q
Missense
SNP
0.628
3GainND
BDNF-
-
-
-
1LossND
BDP1-
-
-
-
1LossND
BECN1-
-
-
-
4GainND
BEGAIN-
-
-
-
3GainND
BEND7-
-
-
-
3GainND
BEST1-
-
-
-
1LossND
BEST3p.S453F
Missense
SNP
0.532
2-ND
BET1L-
-
-
-
1LossND
BHMT-
-
-
-
1LossND
BHMT2-
-
-
-
1LossND
BICC1p.T462I
Missense
SNP
0.296
3GainND
BICD2-
-
-
-
1LossND
BIK-
-
-
-
3GainND
BIRC2-
-
-
-
1LossND
BIRC3-
-
-
-
1LossND
BIRC5-
-
-
-
4GainND
BLID-
-
-
-
1LossND
BLMH-
-
-
-
4GainND
BLNK-
-
-
-
1LossND
BLOC1S2-
-
-
-
1LossND
BLVRA-
-
-
-
3GainND
BMI1-
-
-
-
3GainND
BMP15p.L368F
Missense
SNP
1.000
NDNDND
BMP2p.P332S
Missense
SNP
0.463
2-ND
BMP4-
-
-
-
3GainND
BMPERp.E567K
Missense
SNP
0.250
3GainND
BMPR1A-
-
-
-
1LossND
BMS1-
-
-
-
3GainND
BMT2-
-
-
-
3GainND
BNC2-
-
-
-
1LossND
BNIP1-
-
-
-
3GainND
BNIP3-
-
-
-
1LossND
BOD1-
-
-
-
3GainND
BOD1L2-
-
-
-
1LossND
BORCS7-
-
-
-
1LossND
BORCS7-ASMT-
-
-
-
1LossND
BPGM-
-
-
-
3GainND
BPIFC-
-
-
-
3GainND
BPNT1-
-
-
-
1LossND
BPTF-
-
-
-
4GainND
BRAT1-
-
-
-
3GainND
BRCA1p.L1439F
Missense
SNP
0.424
4GainND
BRD1-
-
-
-
3GainND
BRD3-
-
-
-
1LossND
BRD8-
-
-
-
3GainND
BRD9-
-
-
-
1LossND
BRF1-
-
-
-
3GainND
BRINP1-
-
-
-
1LossND
BRIP1-
-
-
-
4GainND
BRIX1-
-
-
-
1LossND
BRMS1-
-
-
-
1LossND
BRMS1L-
-
-
-
3GainND
BRSK2-
-
-
-
1LossND
BSCL2-
-
-
-
1LossND
BSPRY-
-
-
-
1LossND
BSX-
-
-
-
1LossND
BTAF1-
-
-
-
1LossND
BTBD10-
-
-
-
1LossND
BTBD11p.M732I
Missense
SNP
0.433
2-ND
BTBD16-
-
-
-
1LossND
BTBD17-
-
-
-
4GainND
BTBD18-
-
-
-
1LossND
BTBD6-
-
-
-
3GainND
BTBD7-
-
-
-
3GainND
BTF3-
-
-
-
1LossND
BTG4-
-
-
-
1LossND
BTN3A3p.S219F
Missense
SNP
0.448
2-ND
BTNL3-
-
-
-
3GainND
BTNL8-
-
-
-
3GainND
BTNL9-
-
-
-
3GainND
BTRC-
-
-
-
1LossND
BUB3-
-
-
-
1LossND
BUD13-
-
-
-
1LossND
BVESp.M66I
Missense
SNP
0.461
2-ND
BZW2-
-
-
-
3GainND
C10orf105-
-
-
-
3GainND
C10orf113-
-
-
-
3GainND
C10orf120-
-
-
-
1LossND
C10orf53p.D38N
Missense
SNP
0.364
3GainND
C10orf55-
-
-
-
3GainND
C10orf62-
-
-
-
1LossND
C10orf67-
-
-
-
3GainND
C10orf71p.E110K
p.S1130L
Missense
Missense
SNP
SNP
0.656
0.313
3GainND
C10orf82-
-
-
-
1LossND
C10orf88-
-
-
-
1LossND
C10orf90-
-
-
-
1LossND
C10orf95-
-
-
-
1LossND
C10orf99-
-
-
-
1LossND
C11orf1-
-
-
-
1LossND
C11orf16-
-
-
-
1LossND
C11orf21-
-
-
-
1LossND
C11orf24p.L402F
Missense
SNP
1.000
1LossND
C11orf40-
-
-
-
1LossND
C11orf42-
-
-
-
1LossND
C11orf45-
-
-
-
1LossND
C11orf49-
-
-
-
1LossND
C11orf52-
-
-
-
1LossND
C11orf53-
-
-
-
1LossND
C11orf54-
-
-
-
1LossND
C11orf58-
-
-
-
1LossND
C11orf65-
-
-
-
1LossND
C11orf68-
-
-
-
1LossND
C11orf71-
-
-
-
1LossND
C11orf74-
-
-
-
1LossND
C11orf80-
-
-
-
1LossND
C11orf86-
-
-
-
1LossND
C11orf87-
-
-
-
1LossND
C11orf88-
-
-
-
1LossND
C11orf91-
-
-
-
1LossND
C11orf94-
-
-
-
1LossND
C11orf95-
-
-
-
1LossND
C11orf96-
-
-
-
1LossND
C11orf97-
-
-
-
1LossND
C11orf98-
-
-
-
1LossND
C12orf50p.R389Q
Missense
SNP
0.344
2-ND
C14orf119-
-
-
-
3GainND
C14orf132-
-
-
-
3GainND
C14orf177-
-
-
-
3GainND
C14orf178-
-
-
-
3GainND
C14orf180-
-
-
-
3GainND
C14orf28-
-
-
-
3GainND
C14orf39-
-
-
-
3GainND
C14orf93-
-
-
-
3GainND
C16orf78p.S88F
Missense
SNP
0.449
2-ND
C16orf92p.V18I
Missense
SNP
0.574
2-ND
C17orf47-
-
-
-
4GainND
C17orf50-
-
-
-
3GainND
C17orf53-
-
-
-
4GainND
C17orf58-
-
-
-
4GainND
C17orf64-
-
-
-
4GainND
C17orf67-
-
-
-
4GainND
C17orf75-
-
-
-
4GainND
C17orf78-
-
-
-
3GainND
C17orf80-
-
-
-
4GainND
C17orf98-
-
-
-
4GainND
C17orf99-
-
-
-
4GainND
C18orf54-
-
-
-
1LossND
C18orf63-
-
-
-
1LossND
C1GALT1-
-
-
-
3GainND
C1orf168p.E650K
Missense
SNP
0.559
NDNDND
C1orf35-
-
-
-
1LossND
C1QL1-
-
-
-
4GainND
C1QL3-
-
-
-
3GainND
C1QTNF1-
-
-
-
4GainND
C1QTNF2-
-
-
-
3GainND
C1QTNF3-
-
-
-
1LossND
C1QTNF3-AMACR-
-
-
-
1LossND
C1QTNF4-
-
-
-
1LossND
C1QTNF5-
-
-
-
1LossND
C1QTNF6-
-
-
-
3GainND
C1QTNF9Bp.G140R
Missense
SNP
0.178
2-ND
C1Rp.R538S
Missense
SNP
0.441
2-ND
C20orf194p.P875S
Missense
SNP
0.462
2-ND
C22orf15-
-
-
-
3GainND
C22orf23-
-
-
-
3GainND
C22orf31-
-
-
-
3GainND
C22orf39-
-
-
-
3GainND
C22orf42-
-
-
-
3GainND
C22orf46-
-
-
-
3GainND
C2CD2L-
-
-
-
1LossND
C2CD3-
-
-
-
1LossND
C5-
-
-
-
1LossND
C5orf15-
-
-
-
3GainND
C5orf22-
-
-
-
1LossND
C5orf24-
-
-
-
3GainND
C5orf30-
-
-
-
1LossND
C5orf34-
-
-
-
1LossND
C5orf38-
-
-
-
1LossND
C5orf46-
-
-
-
3GainND
C5orf47-
-
-
-
3GainND
C5orf49-
-
-
-
1LossND
C5orf51-
-
-
-
1LossND
C5orf52-
-
-
-
3GainND
C5orf58-
-
-
-
3GainND
C5orf60-
-
-
-
3GainND
C5orf63-
-
-
-
3GainND
C5orf67-
-
-
-
1LossND
C6-
-
-
-
1LossND
C7-
-
-
-
1LossND
C7orf25-
-
-
-
3GainND
C7orf26-
-
-
-
3GainND
C7orf31-
-
-
-
3GainND
C7orf33-
-
-
-
3GainND
C7orf43-
-
-
-
3GainND
C7orf50-
-
-
-
3GainND
C7orf61-
-
-
-
3GainND
C7orf77-
-
-
-
3GainND
C8Ap.E162K
p.G377E
Missense
Missense
SNP
SNP
0.393
0.453
2-ND
C8G-
-
-
-
1LossND
C9-
-
-
-
1LossND
C9orf116-
-
-
-
1LossND
C9orf129-
-
-
-
1LossND
C9orf135-
-
-
-
1LossND
C9orf152-
-
-
-
1LossND
C9orf153-
-
-
-
1LossND
C9orf16-
-
-
-
1LossND
C9orf3-
-
-
-
1LossND
C9orf40-
-
-
-
1LossND
C9orf43-
-
-
-
1LossND
C9orf50-
-
-
-
1LossND
C9orf57-
-
-
-
1LossND
C9orf64-
-
-
-
1LossND
C9orf72-
-
-
-
1LossND
C9orf78-
-
-
-
1LossND
C9orf84-
-
-
-
1LossND
C9orf85-
-
-
-
1LossND
C9orf92-
-
-
-
1LossND
CA10-
-
-
-
4GainND
CA4-
-
-
-
4GainND
CA5Ap.H130Y
Missense
SNP
0.453
2-ND
CA9p.P77S
Missense
SNP
0.465
2-ND
CAAP1-
-
-
-
1LossND
CABCOCO1-
-
-
-
3GainND
CABIN1-
-
-
-
3GainND
CABP2-
-
-
-
1LossND
CABP4-
-
-
-
1LossND
CABP7-
-
-
-
3GainND
CACFD1-
-
-
-
1LossND
CACNA1Ap.H253Y
Missense
SNP
1.000
2-ND
CACNA1Bp.P222S
Missense
SNP
1.000
1LossND
CACNA1Cp.S927F
p.E1355K
p.G2049D
Missense
Missense
Missense
SNP
SNP
SNP
0.459
0.478
0.499
2-ND
CACNA1Dp.R1575*
Nonsense
SNP
0.447
2-ND
CACNA1Fp.R1299*
p.W1088*
Nonsense
Nonsense
SNP
SNP
1.000
1.000
NDNDND
CACNA1G-
-
-
-
4GainND
CACNA1I-
-
-
-
3GainND
CACNA2D1-
-
-
-
3GainND
CACNA2D3p.G334E
p.S1021F
Missense
Missense
SNP
SNP
0.507
0.521
2-ND
CACNB1-
-
-
-
4GainND
CACNB2-
-
-
-
3GainND
CACNG1-
-
-
-
4GainND
CACNG2-
-
-
-
3GainND
CACNG4-
-
-
-
4GainND
CACNG5-
-
-
-
4GainND
CACUL1-
-
-
-
1LossND
CADM1-
-
-
-
1LossND
CADM2p.E88K
p.D178N
Missense
Missense
SNP
SNP
0.490
0.480
2-ND
CADPS2-
-
-
-
3GainND
CAGE1p.A217V
Missense
SNP
0.411
2-ND
CALCA-
-
-
-
1LossND
CALCB-
-
-
-
1LossND
CALCOCO2-
-
-
-
4GainND
CALD1-
-
-
-
3GainND
CALHM1-
-
-
-
1LossND
CALHM2-
-
-
-
1LossND
CALHM3-
-
-
-
1LossND
CALM1-
-
-
-
3GainND
CALML3-
-
-
-
3GainND
CALML5-
-
-
-
3GainND
CALU-
-
-
-
3GainND
CALY-
-
-
-
1LossND
CAMK1D-
-
-
-
3GainND
CAMK2A-
-
-
-
3GainND
CAMK2B-
-
-
-
3GainND
CAMK2G-
-
-
-
3GainND
CAMK4-
-
-
-
3GainND
CAMLG-
-
-
-
3GainND
CAMSAP1-
-
-
-
1LossND
CAMSAP3p.P553L
Missense
SNP
0.999
2-ND
CANT1-
-
-
-
4GainND
CANX-
-
-
-
3GainND
CAPN1-
-
-
-
1LossND
CAPN13p.P146L
Missense
SNP
0.508
2-ND
CAPN5-
-
-
-
1LossND
CAPRIN1-
-
-
-
1LossND
CAPSL-
-
-
-
1LossND
CAPZA2-
-
-
-
3GainND
CARD10p.E885K
Missense
SNP
0.349
3GainND
CARD11-
-
-
-
3GainND
CARD14-
-
-
-
4GainND
CARD16-
-
-
-
1LossND
CARD17-
-
-
-
1LossND
CARD18-
-
-
-
1LossND
CARD19-
-
-
-
1LossND
CARD6-
-
-
-
1LossND
CARD9-
-
-
-
1LossND
CARFp.S482F
Missense
SNP
0.590
2-ND
CARMIL3-
-
-
-
3GainND
CARNMT1-
-
-
-
1LossND
CARNS1-
-
-
-
1LossND
CARS-
-
-
-
1LossND
CARTPT-
-
-
-
1LossND
CASC10-
-
-
-
3GainND
CASC3-
-
-
-
4GainND
CASKIN2-
-
-
-
4GainND
CASP1-
-
-
-
1LossND
CASP12-
-
-
-
1LossND
CASP2-
-
-
-
3GainND
CASP4-
-
-
-
1LossND
CASP5-
-
-
-
1LossND
CASP7-
-
-
-
1LossND
CASS4p.S578F
Missense
SNP
0.544
2-ND
CAST-
-
-
-
1LossND
CASTOR1-
-
-
-
3GainND
CASTOR2-
-
-
-
3GainND
CASTOR3-
-
-
-
3GainND
CAT-
-
-
-
1LossND
CATSPER1-
-
-
-
1LossND
CATSPER3-
-
-
-
3GainND
CATSPERB-
-
-
-
3GainND
CATSPERZ-
-
-
-
1LossND
CAV1-
-
-
-
3GainND
CAV2-
-
-
-
3GainND
CAVIN1-
-
-
-
4GainND
CAVIN3-
-
-
-
1LossND
CAVIN4-
-
-
-
1LossND
CBFA2T3p.A171V
Missense
SNP
0.476
2-ND
CBL-
-
-
-
1LossND
CBLL1-
-
-
-
3GainND
CBLN2-
-
-
-
1LossND
CBLN3-
-
-
-
3GainND
CBX1-
-
-
-
4GainND
CBX2-
-
-
-
4GainND
CBX3-
-
-
-
3GainND
CBX4-
-
-
-
4GainND
CBX6-
-
-
-
3GainND
CBX7-
-
-
-
3GainND
CBX8-
-
-
-
4GainND
CBY1-
-
-
-
3GainND
CBY3-
-
-
-
3GainND
CC2D1Ap.P342L
Missense
SNP
1.000
2-ND
CC2D2B-
-
-
-
1LossND
CCAR1-
-
-
-
3GainND
CCBE1-
-
-
-
1LossND
CCDC102B-
-
-
-
1LossND
CCDC103-
-
-
-
4GainND
CCDC112-
-
-
-
3GainND
CCDC113p.R78*
Nonsense
SNP
0.442
2-ND
CCDC116-
-
-
-
3GainND
CCDC117-
-
-
-
3GainND
CCDC125-
-
-
-
1LossND
CCDC126-
-
-
-
3GainND
CCDC127-
-
-
-
1LossND
CCDC134-
-
-
-
3GainND
CCDC136-
-
-
-
3GainND
CCDC137-
-
-
-
4GainND
CCDC146-
-
-
-
3GainND
CCDC15-
-
-
-
1LossND
CCDC152-
-
-
-
1LossND
CCDC153-
-
-
-
1LossND
CCDC157-
-
-
-
3GainND
CCDC171-
-
-
-
1LossND
CCDC172-
-
-
-
1LossND
CCDC175-
-
-
-
3GainND
CCDC179-
-
-
-
1LossND
CCDC180-
-
-
-
1LossND
CCDC182-
-
-
-
4GainND
CCDC183-
-
-
-
1LossND
CCDC186-
-
-
-
1LossND
CCDC188-
-
-
-
3GainND
CCDC197-
-
-
-
3GainND
CCDC198-
-
-
-
3GainND
CCDC3-
-
-
-
3GainND
CCDC34-
-
-
-
1LossND
CCDC40-
-
-
-
4GainND
CCDC43-
-
-
-
4GainND
CCDC47-
-
-
-
4GainND
CCDC57-
-
-
-
4GainND
CCDC6-
-
-
-
3GainND
CCDC60p.S441F
Missense
SNP
0.450
2-ND
CCDC65p.E359K
Missense
SNP
0.324
2-ND
CCDC68-
-
-
-
1LossND
CCDC69-
-
-
-
3GainND
CCDC71L-
-
-
-
3GainND
CCDC73p.E116K
Missense
SNP
1.000
1LossND
CCDC81-
-
-
-
1LossND
CCDC82-
-
-
-
1LossND
CCDC83-
-
-
-
1LossND
CCDC84-
-
-
-
1LossND
CCDC85B-
-
-
-
1LossND
CCDC85C-
-
-
-
3GainND
CCDC86-
-
-
-
1LossND
CCDC87-
-
-
-
1LossND
CCDC88B-
-
-
-
1LossND
CCDC88C-
-
-
-
3GainND
CCDC89-
-
-
-
1LossND
CCDC90B-
-
-
-
1LossND
CCDC92p.S71L
Missense
SNP
0.500
2-ND
CCKBR-
-
-
-
1LossND
CCL1-
-
-
-
3GainND
CCL11-
-
-
-
3GainND
CCL13-
-
-
-
3GainND
CCL14-
-
-
-
3GainND
CCL15-
-
-
-
3GainND
CCL15-CCL14-
-
-
-
3GainND
CCL16-
-
-
-
3GainND
CCL18-
-
-
-
3GainND
CCL2-
-
-
-
3GainND
CCL21p.R104K
Missense
SNP
0.469
2-ND
CCL23-
-
-
-
3GainND
CCL24-
-
-
-
3GainND
CCL26-
-
-
-
3GainND
CCL28-
-
-
-
1LossND
CCL3-
-
-
-
3GainND
CCL3L1-
-
-
-
3GainND
CCL4-
-
-
-
3GainND
CCL4L2-
-
-
-
3GainND
CCL5-
-
-
-
3GainND
CCL7-
-
-
-
3GainND
CCL8-
-
-
-
3GainND
CCM2-
-
-
-
3GainND
CCNA1p.R261*
p.R354Q
Nonsense
Missense
SNP
SNP
0.553
0.569
2-ND
CCNB1-
-
-
-
1LossND
CCNB1IP1-
-
-
-
3GainND
CCNB3p.D1352N
Missense
SNP
1.000
NDNDND
CCND1-
-
-
-
1LossND
CCND2p.G268E
Missense
SNP
0.504
2-ND
CCNG1-
-
-
-
3GainND
CCNH-
-
-
-
1LossND
CCNI2-
-
-
-
3GainND
CCNJ-
-
-
-
1LossND
CCNJL-
-
-
-
3GainND
CCNK-
-
-
-
3GainND
CCNO-
-
-
-
1LossND
CCNY-
-
-
-
3GainND
CCR1p.P23S
Missense
SNP
0.511
2-ND
CCR10p.S348F
Missense
SNP
0.600
4GainND
CCR7-
-
-
-
4GainND
CCS-
-
-
-
1LossND
CCSER1p.G614E
Missense
SNP
0.410
2-ND
CCSER2-
-
-
-
1LossND
CCT5-
-
-
-
1LossND
CCT6B-
-
-
-
3GainND
CCZ1-
-
-
-
3GainND
CCZ1B-
-
-
-
3GainND
CD14-
-
-
-
3GainND
CD151-
-
-
-
1LossND
CD180p.G545E
Missense
SNP
0.990
1LossND
CD1Ap.D51N
Missense
SNP
0.570
2-ND
CD1Ep.R174C
Missense
SNP
0.480
2-ND
CD226-
-
-
-
1LossND
CD248-
-
-
-
1LossND
CD274-
-
-
-
1LossND
CD300A-
-
-
-
4GainND
CD300C-
-
-
-
4GainND
CD300E-
-
-
-
4GainND
CD300LB-
-
-
-
4GainND
CD300LD-
-
-
-
4GainND
CD300LF-
-
-
-
4GainND
CD300LG-
-
-
-
4GainND
CD36-
-
-
-
3GainND
CD3D-
-
-
-
1LossND
CD3E-
-
-
-
1LossND
CD3G-
-
-
-
1LossND
CD44-
-
-
-
1LossND
CD5-
-
-
-
1LossND
CD59-
-
-
-
1LossND
CD6-
-
-
-
1LossND
CD7-
-
-
-
4GainND
CD74-
-
-
-
3GainND
CD79B-
-
-
-
4GainND
CD81-
-
-
-
1LossND
CD82-
-
-
-
1LossND
CD93p.E420K
Missense
SNP
0.662
3GainND
CDC123-
-
-
-
3GainND
CDC14B-
-
-
-
1LossND
CDC20B-
-
-
-
1LossND
CDC23-
-
-
-
3GainND
CDC25C-
-
-
-
3GainND
CDC26-
-
-
-
1LossND
CDC27-
-
-
-
4GainND
CDC37L1-
-
-
-
1LossND
CDC40p.R416W
Missense
SNP
0.541
2-ND
CDC42BPA-
-
-
-
1LossND
CDC42BPB-
-
-
-
3GainND
CDC42BPG-
-
-
-
1LossND
CDC42EP1-
-
-
-
3GainND
CDC42EP2-
-
-
-
1LossND
CDC42EP4-
-
-
-
4GainND
CDC42SE2-
-
-
-
3GainND
CDC45-
-
-
-
3GainND
CDC6-
-
-
-
4GainND
CDCA4-
-
-
-
3GainND
CDCA5-
-
-
-
1LossND
CDCA7L-
-
-
-
3GainND
CDCP1p.W448*
Nonsense
SNP
0.550
2-ND
CDH10p.G593D
Missense
SNP
1.000
1LossND
CDH11p.E162K
Missense
SNP
0.548
2-ND
CDH12p.L203F
Missense
SNP
1.000
1LossND
CDH18-
-
-
-
1LossND
CDH19-
-
-
-
1LossND
CDH2p.R156K
Missense
SNP
0.498
2-ND
CDH20-
-
-
-
1LossND
CDH23-
-
-
-
3GainND
CDH24-
-
-
-
3GainND
CDH6-
-
-
-
1LossND
CDH7p.G658E
Missense
SNP
0.704
1LossND
CDH9-
-
-
-
1LossND
CDHR1-
-
-
-
1LossND
CDHR2-
-
-
-
3GainND
CDHR3-
-
-
-
3GainND
CDHR5-
-
-
-
1LossND
CDK1-
-
-
-
3GainND
CDK12-
-
-
-
4GainND
CDK13-
-
-
-
3GainND
CDK20-
-
-
-
1LossND
CDK2AP2-
-
-
-
1LossND
CDK3-
-
-
-
4GainND
CDK5-
-
-
-
3GainND
CDK5R1-
-
-
-
3GainND
CDK5RAP2-
-
-
-
1LossND
CDK5RAP3-
-
-
-
4GainND
CDK7-
-
-
-
1LossND
CDK9-
-
-
-
1LossND
CDKL1-
-
-
-
3GainND
CDKL3-
-
-
-
3GainND
CDKN1C-
-
-
-
1LossND
CDKN2A-
-
-
-
1LossND
CDKN2AIPNL-
-
-
-
3GainND
CDKN2B-
-
-
-
1LossND
CDKN3-
-
-
-
3GainND
CDNF-
-
-
-
3GainND
CDO1-
-
-
-
3GainND
CDON-
-
-
-
1LossND
CDPF1-
-
-
-
3GainND
CDR2L-
-
-
-
4GainND
CDX1p.N247S
Missense
SNP
0.674
3GainND
CEBPE-
-
-
-
3GainND
CEL-
-
-
-
1LossND
CELF1-
-
-
-
1LossND
CELF2-
-
-
-
3GainND
CELSR1-
-
-
-
3GainND
CEMIP2-
-
-
-
1LossND
CEND1-
-
-
-
1LossND
CENPBp.Q331*
Nonsense
SNP
0.561
2-ND
CENPFp.S1012L
p.E2122K
Missense
Missense
SNP
SNP
0.427
0.465
2-ND
CENPH-
-
-
-
1LossND
CENPK-
-
-
-
1LossND
CENPM-
-
-
-
3GainND
CENPP-
-
-
-
1LossND
CENPX-
-
-
-
4GainND
CEP112p.E356K
Missense
SNP
0.354
4GainND
CEP120p.R563C
Missense
SNP
0.230
3GainND
CEP126-
-
-
-
1LossND
CEP128-
-
-
-
3GainND
CEP131-
-
-
-
4GainND
CEP164-
-
-
-
1LossND
CEP170B-
-
-
-
3GainND
CEP192p.S212F
Missense
SNP
0.529
2-ND
CEP295-
-
-
-
1LossND
CEP295NL-
-
-
-
4GainND
CEP41-
-
-
-
3GainND
CEP55-
-
-
-
1LossND
CEP57-
-
-
-
1LossND
CEP72-
-
-
-
1LossND
CEP78-
-
-
-
1LossND
CEP95-
-
-
-
4GainND
CER1-
-
-
-
1LossND
CERCAM-
-
-
-
1LossND
CERK-
-
-
-
3GainND
CERS3p.R75*
Nonsense
SNP
0.357
2-ND
CES3p.S478F
Missense
SNP
0.417
2-ND
CETN3-
-
-
-
1LossND
CFAP157-
-
-
-
1LossND
CFAP300-
-
-
-
1LossND
CFAP43p.E1173K
Missense
SNP
1.000
1LossND
CFAP54p.G2504E
Missense
SNP
0.524
2-ND
CFAP58-
-
-
-
1LossND
CFAP70-
-
-
-
3GainND
CFAP77-
-
-
-
1LossND
CFAP97D1-
-
-
-
4GainND
CFHp.R1149Q
Missense
SNP
0.515
2-ND
CFHR4p.D424N
p.S561L
Missense
Missense
SNP
SNP
0.491
0.505
2-ND
CFHR5p.G527E
Missense
SNP
0.444
2-ND
CFL1-
-
-
-
1LossND
CFL2-
-
-
-
3GainND
CFTR-
-
-
-
3GainND
CGRRF1-
-
-
-
3GainND
CH25H-
-
-
-
1LossND
CHAD-
-
-
-
4GainND
CHADL-
-
-
-
3GainND
CHATp.S425F
p.E737K
Missense
Missense
SNP
SNP
0.598
0.326
3GainND
CHCHD1-
-
-
-
3GainND
CHCHD10-
-
-
-
3GainND
CHCHD3-
-
-
-
3GainND
CHD1-
-
-
-
1LossND
CHD5p.S714F
Missense
SNP
0.478
2-ND
CHD8-
-
-
-
3GainND
CHEK1-
-
-
-
1LossND
CHEK2-
-
-
-
3GainND
CHGA-
-
-
-
3GainND
CHGBp.S46L
p.P300S
Missense
Missense
SNP
SNP
0.479
0.542
2-ND
CHID1-
-
-
-
1LossND
CHKA-
-
-
-
1LossND
CHKB-
-
-
-
3GainND
CHKB-CPT1B-
-
-
-
3GainND
CHMP4A-
-
-
-
3GainND
CHMP5-
-
-
-
1LossND
CHMP6-
-
-
-
4GainND
CHN2-
-
-
-
3GainND
CHORDC1-
-
-
-
1LossND
CHPF2-
-
-
-
3GainND
CHRDL2-
-
-
-
1LossND
CHRM1-
-
-
-
1LossND
CHRM2-
-
-
-
3GainND
CHRM3p.R133*
Nonsense
SNP
0.438
2-ND
CHRM4-
-
-
-
1LossND
CHRNA10-
-
-
-
1LossND
CHRNB3p.P161S
p.S270L
Missense
Missense
SNP
SNP
0.442
0.537
2-ND
CHST1-
-
-
-
1LossND
CHST11p.D337N
Missense
SNP
0.446
2-ND
CHST12-
-
-
-
3GainND
CHST15-
-
-
-
1LossND
CHST3-
-
-
-
3GainND
CHST9p.E95K
Missense
SNP
0.534
2-ND
CHSY3-
-
-
-
3GainND
CHUK-
-
-
-
1LossND
CHURC1-
-
-
-
3GainND
CHURC1-FNTB-
-
-
-
3GainND
CIDEB-
-
-
-
3GainND
CINP-
-
-
-
3GainND
CIPC-
-
-
-
3GainND
CISD1-
-
-
-
3GainND
CISD3-
-
-
-
4GainND
CIZ1-
-
-
-
1LossND
CKAP5-
-
-
-
1LossND
CKB-
-
-
-
3GainND
CKMT2-
-
-
-
1LossND
CKS2-
-
-
-
1LossND
CLBA1-
-
-
-
3GainND
CLCF1-
-
-
-
1LossND
CLCN1-
-
-
-
3GainND
CLCNKAp.M67I
Missense
SNP
0.438
2-ND
CLDN15-
-
-
-
3GainND
CLDN25-
-
-
-
1LossND
CLDN5-
-
-
-
3GainND
CLDND1p.L202F
Missense
SNP
0.483
2-ND
CLEC14A-
-
-
-
3GainND
CLEC18Bp.S183F
Missense
SNP
0.256
2-ND
CLEC4Dp.G114E
Missense
SNP
0.620
2-ND
CLEC4Ep.G216E
Missense
SNP
0.453
2-ND
CLEC4Mp.G329E
Missense
SNP
1.000
2-ND
CLIC3-
-
-
-
1LossND
CLINT1-
-
-
-
3GainND
CLIP1p.S340F
Missense
SNP
0.500
2-ND
CLIP2-
-
-
-
3GainND
CLK4-
-
-
-
3GainND
CLMN-
-
-
-
3GainND
CLMP-
-
-
-
1LossND
CLNS1A-
-
-
-
1LossND
CLP1-
-
-
-
1LossND
CLPB-
-
-
-
1LossND
CLPTM1L-
-
-
-
1LossND
CLRN3-
-
-
-
1LossND
CLSPNp.S1233F
Missense
SNP
0.436
2-ND
CLSTN2p.E199K
Missense
SNP
0.488
2-ND
CLTB-
-
-
-
3GainND
CLTC-
-
-
-
4GainND
CLTCL1-
-
-
-
3GainND
CLUp.D280N
Missense
SNP
0.551
2-ND
CLVS2p.S143F
Missense
SNP
0.475
2-ND
CMA1-
-
-
-
3GainND
CMBL-
-
-
-
1LossND
CMTM5-
-
-
-
3GainND
CMYA5p.G1397E
Missense
SNP
1.000
1LossND
CNDP1p.G245E
Missense
SNP
0.222
1LossND
CNDP2-
-
-
-
1LossND
CNGA4-
-
-
-
1LossND
CNIH1-
-
-
-
3GainND
CNIH2-
-
-
-
1LossND
CNIH3-
-
-
-
1LossND
CNIH4-
-
-
-
1LossND
CNKSR2p.R843Q
Missense
SNP
1.000
NDNDND
CNNM1-
-
-
-
1LossND
CNNM2-
-
-
-
1LossND
CNNM4p.T302I
Missense
SNP
0.510
2-ND
CNOT4-
-
-
-
3GainND
CNOT6-
-
-
-
3GainND
CNOT8-
-
-
-
3GainND
CNP-
-
-
-
4GainND
CNPY1-
-
-
-
3GainND
CNPY4-
-
-
-
3GainND
CNTD1-
-
-
-
4GainND
CNTF-
-
-
-
1LossND
CNTLN-
-
-
-
1LossND
CNTN1p.E664K
Missense
SNP
0.415
2-ND
CNTN5p.S379F
Missense
SNP
1.000
1LossND
CNTN6p.R674C
p.R714W
Missense
Missense
SNP
SNP
0.436
0.439
2-ND
CNTNAP1-
-
-
-
4GainND
CNTNAP2p.D634N
p.S687F
p.E1208K
Missense
Missense
Missense
SNP
SNP
SNP
0.763
0.265
0.767
5AmpND
CNTNAP3C-
-
-
-
1LossND
CNTNAP4p.D13N
p.R327K
p.G601E
Missense
Missense
Missense
SNP
SNP
SNP
0.371
0.690
0.589
2-ND
CNTNAP5p.P505S
Missense
SNP
0.580
2-ND
CNTRL-
-
-
-
1LossND
COA1-
-
-
-
3GainND
COA3-
-
-
-
4GainND
COA4-
-
-
-
1LossND
COA6-
-
-
-
1LossND
COASY-
-
-
-
4GainND
COCH-
-
-
-
3GainND
COG1-
-
-
-
4GainND
COG5p.L213F
Missense
SNP
0.338
3GainND
COG6p.E106K
Missense
SNP
0.509
2-ND
COIL-
-
-
-
4GainND
COL11A1p.P896L
Missense
SNP
0.460
2-ND
COL12A1p.P2775L
Missense
SNP
0.511
2-ND
COL13A1-
-
-
-
3GainND
COL14A1p.E839K
p.G1702E
Missense
Missense
SNP
SNP
0.516
0.586
2-ND
COL15A1-
-
-
-
1LossND
COL17A1-
-
-
-
1LossND
COL19A1p.G869E
Missense
SNP
0.405
2-ND
COL1A1-
-
-
-
5AmpND
COL22A1p.G741E
p.G514R
Missense
Missense
SNP
SNP
0.469
0.480
2-ND
COL23A1-
-
-
-
3GainND
COL25A1p.P502S
Missense
SNP
0.413
2-ND
COL26A1-
-
-
-
3GainND
COL27A1-
-
-
-
1LossND
COL28A1-
-
-
-
3GainND
COL3A1p.R1024*
Nonsense
SNP
0.529
2-ND
COL4A1p.P623S
Missense
SNP
0.523
2-ND
COL4A3p.P273S
p.G643S
Missense
Missense
SNP
SNP
0.534
0.481
2-ND
COL4A3BP-
-
-
-
1LossND
COL4A4p.P635S
p.G173E
Missense
Missense
SNP
SNP
0.512
0.533
2-ND
COL4A5p.P272S
Missense
SNP
1.000
NDNDND
COL5A1p.E1382K
Missense
SNP
1.000
1LossND
COL5A3p.S453F
Missense
SNP
1.000
2-ND
COL6A3p.R2202Q
p.P1426L
Missense
Missense
SNP
SNP
0.526
0.506
2-ND
COL7A1p.V222M
Missense
SNP
0.559
2-ND
COL8A1p.G241R
Missense
SNP
0.492
2-ND
COLCA2-
-
-
-
1LossND
COMMD10-
-
-
-
3GainND
COMMD3-
-
-
-
3GainND
COMMD3-BMI1-
-
-
-
3GainND
COMMD9-
-
-
-
1LossND
COMT-
-
-
-
3GainND
COMTD1-
-
-
-
3GainND
COPB1-
-
-
-
1LossND
COPG2-
-
-
-
3GainND
COPRS-
-
-
-
4GainND
COPZ2-
-
-
-
4GainND
COQ4-
-
-
-
1LossND
COQ6-
-
-
-
3GainND
COQ8A-
-
-
-
1LossND
CORINp.S565L
p.M464I
p.D297N
Missense
Missense
Missense
SNP
SNP
SNP
0.481
0.518
0.466
2-ND
CORO1B-
-
-
-
1LossND
CORO2A-
-
-
-
1LossND
CORO6-
-
-
-
4GainND
COX11-
-
-
-
4GainND
COX15-
-
-
-
1LossND
COX16-
-
-
-
3GainND
COX19-
-
-
-
3GainND
COX7C-
-
-
-
1LossND
COX8A-
-
-
-
1LossND
COX8C-
-
-
-
3GainND
CPA1-
-
-
-
3GainND
CPA2-
-
-
-
3GainND
CPA4-
-
-
-
3GainND
CPA5-
-
-
-
3GainND
CPD-
-
-
-
4GainND
CPEB3-
-
-
-
1LossND
CPEB4-
-
-
-
3GainND
CPED1-
-
-
-
3GainND
CPLANE1-
-
-
-
1LossND
CPLX2-
-
-
-
3GainND
CPLX4-
-
-
-
1LossND
CPN1-
-
-
-
1LossND
CPNE6-
-
-
-
3GainND
CPS1p.S1269F
Missense
SNP
0.427
2-ND
CPSF2-
-
-
-
3GainND
CPSF4L-
-
-
-
4GainND
CPSF7-
-
-
-
1LossND
CPT1A-
-
-
-
1LossND
CPT1B-
-
-
-
3GainND
CPVL-
-
-
-
3GainND
CPXM1p.E691K
Missense
SNP
0.488
2-ND
CPXM2-
-
-
-
1LossND
CRACR2B-
-
-
-
1LossND
CRAMP1p.S490F
Missense
SNP
0.424
2-ND
CRAT-
-
-
-
1LossND
CRB1p.L1359F
Missense
SNP
0.528
2-ND
CRB2-
-
-
-
1LossND
CRCP-
-
-
-
3GainND
CREB3L1-
-
-
-
1LossND
CREB5-
-
-
-
3GainND
CREBRF-
-
-
-
3GainND
CREBZF-
-
-
-
1LossND
CRELD2-
-
-
-
3GainND
CREM-
-
-
-
3GainND
CRHBP-
-
-
-
1LossND
CRHR1-
-
-
-
4GainND
CRHR2-
-
-
-
3GainND
CRIP1-
-
-
-
3GainND
CRIP2-
-
-
-
3GainND
CRKL-
-
-
-
3GainND
CRLF3-
-
-
-
4GainND
CRPp.P105S
Missense
SNP
0.467
2-ND
CRTAC1-
-
-
-
1LossND
CRTAM-
-
-
-
1LossND
CRY2-
-
-
-
1LossND
CRYAB-
-
-
-
1LossND
CRYBA1-
-
-
-
4GainND
CRYBA4-
-
-
-
3GainND
CRYBB1-
-
-
-
3GainND
CRYBB2-
-
-
-
3GainND
CRYBB3-
-
-
-
3GainND
CRYGN-
-
-
-
3GainND
CSDC2-
-
-
-
3GainND
CSF1R-
-
-
-
3GainND
CSF2-
-
-
-
3GainND
CSF2RB-
-
-
-
3GainND
CSF3-
-
-
-
4GainND
CSGALNACT2-
-
-
-
3GainND
CSH1-
-
-
-
4GainND
CSH2-
-
-
-
4GainND
CSHL1-
-
-
-
4GainND
CSKMT-
-
-
-
1LossND
CSMD1p.S981F
Missense
SNP
0.500
2-ND
CSMD2p.G1983S
Missense
SNP
0.385
2-ND
CSMD3p.G3159E
p.P3150S
p.G1948E
p.G1647E
p.E610K
p.P258S
p.S120L
p.G71E
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
0.413
0.414
0.438
0.443
0.505
0.530
0.467
0.400
2-ND
CSNK1A1-
-
-
-
3GainND
CSNK1D-
-
-
-
4GainND
CSNK1E-
-
-
-
3GainND
CSNK1G1p.R291*
Nonsense
SNP
0.617
2-ND
CSNK1G3-
-
-
-
3GainND
CSNK2A3-
-
-
-
1LossND
CSRP3-
-
-
-
1LossND
CST1-
-
-
-
3GainND
CST11-
-
-
-
3GainND
CST2-
-
-
-
3GainND
CST3-
-
-
-
3GainND
CST4-
-
-
-
3GainND
CST5-
-
-
-
3GainND
CST6-
-
-
-
1LossND
CST8-
-
-
-
3GainND
CST9-
-
-
-
3GainND
CST9L-
-
-
-
3GainND
CSTF2T-
-
-
-
3GainND
CSTF3-
-
-
-
1LossND
CSTL1-
-
-
-
3GainND
CTAGE4-
-
-
-
3GainND
CTAGE8-
-
-
-
3GainND
CTBP2-
-
-
-
1LossND
CTDP1-
-
-
-
1LossND
CTNNA1-
-
-
-
3GainND
CTNNA3p.E642K
Missense
SNP
0.682
3GainND
CTNNAL1-
-
-
-
1LossND
CTNND1p.Q333*
Nonsense
SNP
1.000
1LossND
CTNND2-
-
-
-
1LossND
CTR9-
-
-
-
1LossND
CTSC-
-
-
-
1LossND
CTSD-
-
-
-
1LossND
CTSF-
-
-
-
1LossND
CTSG-
-
-
-
3GainND
CTSL-
-
-
-
1LossND
CTSOp.S73F
Missense
SNP
0.511
2-ND
CTSV-
-
-
-
1LossND
CTSW-
-
-
-
1LossND
CTTN-
-
-
-
1LossND
CTTNBP2-
-
-
-
3GainND
CTXN3-
-
-
-
3GainND
CUBN-
-
-
-
3GainND
CUEDC1-
-
-
-
4GainND
CUEDC2-
-
-
-
1LossND
CUL1-
-
-
-
3GainND
CUL2-
-
-
-
3GainND
CUL5-
-
-
-
1LossND
CUTC-
-
-
-
1LossND
CUX1-
-
-
-
3GainND
CUX2p.E1199K
Missense
SNP
0.500
2-ND
CUZD1-
-
-
-
1LossND
CWC15-
-
-
-
1LossND
CWC25-
-
-
-
4GainND
CWC27-
-
-
-
1LossND
CWF19L1-
-
-
-
1LossND
CWF19L2-
-
-
-
1LossND
CX3CR1p.T174I
Missense
SNP
0.488
2-ND
CXCL12-
-
-
-
3GainND
CXCL14-
-
-
-
3GainND
CXCR2p.R322C
Missense
SNP
0.505
2-ND
CXCR5-
-
-
-
1LossND
CXorf58p.F113V
Missense
SNP
1.000
NDNDND
CXXC5-
-
-
-
3GainND
CYB561-
-
-
-
4GainND
CYB561A3-
-
-
-
1LossND
CYB5A-
-
-
-
1LossND
CYB5R2-
-
-
-
1LossND
CYB5R3p.S198F
Missense
SNP
0.277
3GainND
CYBC1-
-
-
-
4GainND
CYCS-
-
-
-
3GainND
CYFIP2-
-
-
-
3GainND
CYGB-
-
-
-
4GainND
CYLC2-
-
-
-
1LossND
CYP17A1-
-
-
-
1LossND
CYP26A1-
-
-
-
1LossND
CYP26C1-
-
-
-
1LossND
CYP2C18-
-
-
-
1LossND
CYP2C19-
-
-
-
1LossND
CYP2C8-
-
-
-
1LossND
CYP2C9-
-
-
-
1LossND
CYP2D6-
-
-
-
3GainND
CYP2D7-
-
-
-
3GainND
CYP2E1-
-
-
-
1LossND
CYP2R1-
-
-
-
1LossND
CYP2W1-
-
-
-
3GainND
CYP46A1-
-
-
-
3GainND
CYP4A11p.S498F
Missense
SNP
0.487
2-ND
CYP4A22p.R143*
Nonsense
SNP
0.440
2-ND
CYP4F2p.E477K
Missense
SNP
1.000
2-ND
CYP4F8p.D373N
Missense
SNP
1.000
2-ND
CYREN-
-
-
-
3GainND
CYSRT1-
-
-
-
1LossND
CYSTM1-
-
-
-
3GainND
CYTH1-
-
-
-
4GainND
CYTH3-
-
-
-
3GainND
CYTH4-
-
-
-
3GainND
DAAM1-
-
-
-
3GainND
DAB2-
-
-
-
1LossND
DAB2IP-
-
-
-
1LossND
DACT1-
-
-
-
3GainND
DACT2p.E594K
Missense
SNP
0.473
2-ND
DAD1-
-
-
-
3GainND
DAGLA-
-
-
-
1LossND
DAGLB-
-
-
-
3GainND
DAP-
-
-
-
1LossND
DAPK1-
-
-
-
1LossND
DBF4B-
-
-
-
4GainND
DBH-
-
-
-
1LossND
DBN1-
-
-
-
3GainND
DBNL-
-
-
-
3GainND
DBX1-
-
-
-
1LossND
DBX2p.D215N
Missense
SNP
0.385
2-ND
DCAF11-
-
-
-
3GainND
DCAF4-
-
-
-
3GainND
DCAF5-
-
-
-
3GainND
DCAF7-
-
-
-
4GainND
DCAKD-
-
-
-
4GainND
DCANP1-
-
-
-
3GainND
DCBLD1p.S272L
Missense
SNP
0.443
2-ND
DCCp.D1424N
Missense
SNP
0.712
2-ND
DCDC1-
-
-
-
1LossND
DCHS1p.A3248T
Missense
SNP
1.000
1LossND
DCLK2p.R275C
Missense
SNP
0.566
2-ND
DCLRE1A-
-
-
-
1LossND
DCLRE1C-
-
-
-
3GainND
DCNp.V178I
Missense
SNP
0.433
2-ND
DCP2-
-
-
-
3GainND
DCPS-
-
-
-
1LossND
DCTN4-
-
-
-
3GainND
DCUN1D5-
-
-
-
1LossND
DCXR-
-
-
-
4GainND
DDB1-
-
-
-
1LossND
DDB2-
-
-
-
1LossND
DDHD1-
-
-
-
3GainND
DDI1-
-
-
-
1LossND
DDIAS-
-
-
-
1LossND
DDIT4-
-
-
-
3GainND
DDT-
-
-
-
3GainND
DDTL-
-
-
-
3GainND
DDX10-
-
-
-
1LossND
DDX17-
-
-
-
3GainND
DDX21-
-
-
-
3GainND
DDX24-
-
-
-
3GainND
DDX25-
-
-
-
1LossND
DDX31-
-
-
-
1LossND
DDX4-
-
-
-
1LossND
DDX41-
-
-
-
3GainND
DDX42-
-
-
-
4GainND
DDX46-
-
-
-
3GainND
DDX5-
-
-
-
4GainND
DDX50-
-
-
-
3GainND
DDX52-
-
-
-
3GainND
DDX56-
-
-
-
3GainND
DDX58-
-
-
-
1LossND
DDX6-
-
-
-
1LossND
DEAF1p.P169S
Missense
SNP
1.000
1LossND
DEC1-
-
-
-
1LossND
DEGS2-
-
-
-
3GainND
DELE1-
-
-
-
3GainND
DENND1A-
-
-
-
1LossND
DENND4C-
-
-
-
1LossND
DENND5A-
-
-
-
1LossND
DENND6B-
-
-
-
3GainND
DEPDC1B-
-
-
-
1LossND
DEPDC5-
-
-
-
3GainND
DEPDC7-
-
-
-
1LossND
DEPP1-
-
-
-
3GainND
DERL3-
-
-
-
3GainND
DESI1-
-
-
-
3GainND
DET1p.S203F
Missense
SNP
0.415
2-ND
DEUP1-
-
-
-
1LossND
DGAT2-
-
-
-
1LossND
DGCR2-
-
-
-
3GainND
DGCR6-
-
-
-
3GainND
DGCR6L-
-
-
-
3GainND
DGCR8-
-
-
-
3GainND
DGKBp.G670E
Missense
SNP
0.196
3GainND
DGKE-
-
-
-
4GainND
DGKIp.S674F
Missense
SNP
0.221
2-ND
DGKKp.R543C
Missense
SNP
1.000
NDNDND
DGKZ-
-
-
-
1LossND
DGLUCY-
-
-
-
3GainND
DHCR7-
-
-
-
1LossND
DHFR-
-
-
-
1LossND
DHRS1-
-
-
-
3GainND
DHRS11-
-
-
-
3GainND
DHRS13-
-
-
-
4GainND
DHRS2-
-
-
-
3GainND
DHRS4-
-
-
-
3GainND
DHRS4L2-
-
-
-
3GainND
DHRS7-
-
-
-
3GainND
DHTKD1-
-
-
-
3GainND
DHX29-
-
-
-
1LossND
DHX32-
-
-
-
1LossND
DHX40-
-
-
-
4GainND
DHX58-
-
-
-
4GainND
DHX8-
-
-
-
4GainND
DIAPH1p.R219C
Missense
SNP
0.576
3GainND
DIAPH2p.H168Y
Missense
SNP
1.000
NDNDND
DICER1-
-
-
-
3GainND
DIMT1-
-
-
-
1LossND
DIO2-
-
-
-
3GainND
DIO3-
-
-
-
3GainND
DIP2C-
-
-
-
3GainND
DIRAS2-
-
-
-
1LossND
DISC1-
-
-
-
1LossND
DIXDC1-
-
-
-
1LossND
DKK1-
-
-
-
3GainND
DKK3-
-
-
-
1LossND
DLAT-
-
-
-
1LossND
DLD-
-
-
-
3GainND
DLEC1p.M1430I
Missense
SNP
0.500
2-ND
DLG2-
-
-
-
1LossND
DLG5-
-
-
-
1LossND
DLGAP2p.P769S
Missense
SNP
0.494
2-ND
DLGAP5-
-
-
-
3GainND
DLK1-
-
-
-
3GainND
DLST-
-
-
-
3GainND
DLX3-
-
-
-
4GainND
DLX4-
-
-
-
4GainND
DMAC1-
-
-
-
1LossND
DMBT1-
-
-
-
1LossND
DMC1-
-
-
-
3GainND
DMGDHp.E303K
Missense
SNP
1.000
1LossND
DMRT1-
-
-
-
1LossND
DMRT2-
-
-
-
1LossND
DMRT3-
-
-
-
1LossND
DMRTA1-
-
-
-
1LossND
DMXL1p.L1772F
Missense
SNP
0.305
3GainND
DMXL2p.S239L
Missense
SNP
0.587
2-ND
DNA2-
-
-
-
3GainND
DNAAF2-
-
-
-
3GainND
DNAAF5-
-
-
-
3GainND
DNAH10p.D3337N
Missense
SNP
0.436
2-ND
DNAH11p.S2921N
Missense
SNP
0.349
3GainND
DNAH12p.G1916E
p.R1230C
Missense
Missense
SNP
SNP
0.552
0.365
2-ND
DNAH14-
-
-
-
1LossND
DNAH17p.M950I
Missense
SNP
0.505
4GainND
DNAH3p.E2755K
p.T1408I
Missense
Missense
SNP
SNP
0.523
0.573
2-ND
DNAH5p.G2649E
p.P1723L
Missense
Missense
SNP
SNP
1.000
1.000
1LossND
DNAH7p.G2341E
p.L1990F
Missense
Missense
SNP
SNP
0.425
0.492
2-ND
DNAH8p.G3662R
p.P4261L
Missense
Missense
SNP
SNP
0.494
0.450
2-ND
DNAH9p.E2368K
Missense
SNP
1.000
2-ND
DNAI2-
-
-
-
4GainND
DNAJA1-
-
-
-
1LossND
DNAJB12-
-
-
-
3GainND
DNAJB13-
-
-
-
1LossND
DNAJB7-
-
-
-
3GainND
DNAJB9-
-
-
-
3GainND
DNAJC1-
-
-
-
3GainND
DNAJC12-
-
-
-
3GainND
DNAJC18p.P185S
Missense
SNP
0.691
3GainND
DNAJC2-
-
-
-
3GainND
DNAJC21-
-
-
-
1LossND
DNAJC24-
-
-
-
1LossND
DNAJC25-
-
-
-
1LossND
DNAJC25-GNG10-
-
-
-
1LossND
DNAJC4-
-
-
-
1LossND
DNAJC7-
-
-
-
4GainND
DNAJC9-
-
-
-
3GainND
DNAL1-
-
-
-
3GainND
DNAL4-
-
-
-
3GainND
DND1-
-
-
-
3GainND
DNHD1-
-
-
-
1LossND
DNLZ-
-
-
-
1LossND
DNM1-
-
-
-
1LossND
DNMBP-
-
-
-
1LossND
DNMT3Lp.D78N
Missense
SNP
0.997
2-ND
DNTT-
-
-
-
1LossND
DNTTIP2p.R749*
Nonsense
SNP
0.325
2-ND
DOCK1-
-
-
-
1LossND
DOCK2-
-
-
-
3GainND
DOCK3p.S238F
p.R385C
Missense
Missense
SNP
SNP
0.515
0.477
2-ND
DOCK4p.P1327S
Missense
SNP
0.672
3GainND
DOK3-
-
-
-
3GainND
DOK5p.R295Q
Missense
SNP
0.512
2-ND
DOK6-
-
-
-
1LossND
DOLK-
-
-
-
1LossND
DOLPP1-
-
-
-
1LossND
DPAGT1-
-
-
-
1LossND
DPCD-
-
-
-
1LossND
DPF2-
-
-
-
1LossND
DPF3-
-
-
-
3GainND
DPH7-
-
-
-
1LossND
DPM2-
-
-
-
1LossND
DPP10p.G27E
Missense
SNP
0.459
2-ND
DPP3-
-
-
-
1LossND
DPP6-
-
-
-
3GainND
DPP7-
-
-
-
1LossND
DPP8p.P594S
Missense
SNP
0.585
2-ND
DPPA2p.M165I
Missense
SNP
0.478
2-ND
DPY19L1-
-
-
-
3GainND
DPYSL3-
-
-
-
3GainND
DPYSL4-
-
-
-
1LossND
DPYSL5p.M43I
Missense
SNP
0.497
2-ND
DRAP1-
-
-
-
1LossND
DRD1-
-
-
-
3GainND
DRD2-
-
-
-
1LossND
DRD3-
-
-
-
1LossND
DRD4-
-
-
-
1LossND
DRG1-
-
-
-
3GainND
DRGX-
-
-
-
3GainND
DRICH1-
-
-
-
3GainND
DROSHA-
-
-
-
1LossND
DSCAMp.G813D
Missense
SNP
1.000
2-ND
DSCAML1-
-
-
-
1LossND
DSELp.S1033L
Missense
SNP
0.652
1LossND
DSG2p.E446K
Missense
SNP
0.511
2-ND
DSG3p.E119K
Missense
SNP
0.416
2-ND
DSPPp.E255K
Missense
SNP
0.500
2-ND
DSTp.A1687D
Missense
SNP
0.538
2-ND
DTD2-
-
-
-
3GainND
DTWD2-
-
-
-
3GainND
DTX2-
-
-
-
3GainND
DTX4-
-
-
-
1LossND
DUPD1-
-
-
-
3GainND
DUS1L-
-
-
-
4GainND
DUS4L-
-
-
-
3GainND
DUSP1-
-
-
-
3GainND
DUSP13-
-
-
-
3GainND
DUSP14-
-
-
-
3GainND
DUSP18-
-
-
-
3GainND
DUSP3-
-
-
-
4GainND
DUSP5-
-
-
-
1LossND
DUSP8-
-
-
-
1LossND
DYDC1-
-
-
-
1LossND
DYDC2-
-
-
-
1LossND
DYNAP-
-
-
-
1LossND
DYNC1H1-
-
-
-
3GainND
DYNC1I1p.E200K
Missense
SNP
0.182
2-ND
DYNC2H1-
-
-
-
1LossND
DYNLL2-
-
-
-
4GainND
DYRK4p.P28S
Missense
SNP
0.498
2-ND
DYTNp.D413Y
Missense
SNP
0.426
2-ND
E2F8-
-
-
-
1LossND
EAPP-
-
-
-
3GainND
EBF1-
-
-
-
3GainND
EBF2p.Q195*
Nonsense
SNP
0.507
2-ND
EBF3-
-
-
-
1LossND
EBLN1-
-
-
-
3GainND
ECD-
-
-
-
3GainND
ECHDC3-
-
-
-
3GainND
ECHS1-
-
-
-
1LossND
ECM2-
-
-
-
1LossND
ECPAS-
-
-
-
1LossND
ECSCR-
-
-
-
3GainND
EDDM3A-
-
-
-
3GainND
EDDM3B-
-
-
-
3GainND
EDF1-
-
-
-
1LossND
EDIL3-
-
-
-
1LossND
EDRF1-
-
-
-
1LossND
EED-
-
-
-
1LossND
EEF1AKMT2-
-
-
-
1LossND
EEF1G-
-
-
-
1LossND
EEPD1-
-
-
-
3GainND
EFCAB10-
-
-
-
3GainND
EFCAB11-
-
-
-
3GainND
EFCAB13-
-
-
-
4GainND
EFCAB3-
-
-
-
4GainND
EFCAB5p.H476Y
Missense
SNP
0.488
4GainND
EFCAB6-
-
-
-
3GainND
EFCAB9-
-
-
-
3GainND
EFEMP2-
-
-
-
1LossND
EFHC2p.E214K
Missense
SNP
1.000
NDNDND
EFNA5-
-
-
-
3GainND
EFR3Ap.S370F
Missense
SNP
0.457
2-ND
EFS-
-
-
-
3GainND
EFTUD2-
-
-
-
4GainND
EGFL7-
-
-
-
1LossND
EGFLAM-
-
-
-
1LossND
EGLN3-
-
-
-
3GainND
EGR1-
-
-
-
3GainND
EGR2-
-
-
-
3GainND
EHBP1L1-
-
-
-
1LossND
EHD1-
-
-
-
1LossND
EHF-
-
-
-
1LossND
EHMT1-
-
-
-
1LossND
EI24-
-
-
-
1LossND
EIF1-
-
-
-
4GainND
EIF1AD-
-
-
-
1LossND
EIF2AK1-
-
-
-
3GainND
EIF2B2-
-
-
-
3GainND
EIF2S1-
-
-
-
3GainND
EIF3A-
-
-
-
1LossND
EIF3B-
-
-
-
3GainND
EIF3D-
-
-
-
3GainND
EIF3F-
-
-
-
1LossND
EIF3L-
-
-
-
3GainND
EIF3M-
-
-
-
1LossND
EIF4A3-
-
-
-
4GainND
EIF4E1B-
-
-
-
3GainND
EIF4EBP2-
-
-
-
3GainND
EIF4EBP3-
-
-
-
3GainND
EIF4ENIF1-
-
-
-
3GainND
EIF4G2-
-
-
-
1LossND
EIF4H-
-
-
-
3GainND
EIF5-
-
-
-
3GainND
EIF5AL1-
-
-
-
1LossND
ELAVL2-
-
-
-
1LossND
ELF5-
-
-
-
1LossND
ELFN1-
-
-
-
3GainND
ELFN2-
-
-
-
3GainND
ELK4p.P401S
Missense
SNP
0.511
2-ND
ELL2-
-
-
-
1LossND
ELMO1-
-
-
-
3GainND
ELMOD1-
-
-
-
1LossND
ELMSAN1-
-
-
-
3GainND
ELOVL3-
-
-
-
1LossND
ELOVL7-
-
-
-
1LossND
ELP1-
-
-
-
1LossND
ELP4-
-
-
-
1LossND
ELSPBP1p.R172K
Missense
SNP
0.996
2-ND
EMB-
-
-
-
1LossND
EMC9-
-
-
-
3GainND
EME1-
-
-
-
4GainND
EMID1-
-
-
-
3GainND
EMILIN2p.E312K
Missense
SNP
0.468
2-ND
EMILIN3p.G575E
Missense
SNP
0.524
2-ND
EML1-
-
-
-
3GainND
EML3-
-
-
-
1LossND
EML5-
-
-
-
3GainND
EML6p.R1335K
Missense
SNP
0.412
2-ND
EMSY-
-
-
-
1LossND
EMX2-
-
-
-
1LossND
EN2-
-
-
-
3GainND
ENAH-
-
-
-
1LossND
ENC1-
-
-
-
1LossND
ENDOD1-
-
-
-
1LossND
ENDOG-
-
-
-
1LossND
ENDOV-
-
-
-
4GainND
ENG-
-
-
-
1LossND
ENGASE-
-
-
-
4GainND
ENKUR-
-
-
-
3GainND
ENO4-
-
-
-
1LossND
ENPP1p.P797L
Missense
SNP
0.410
2-ND
ENPP2p.E870K
Missense
SNP
0.544
2-ND
ENPP7-
-
-
-
4GainND
ENTHD1-
-
-
-
3GainND
ENTPD1-
-
-
-
1LossND
ENTPD2-
-
-
-
1LossND
ENTPD5-
-
-
-
3GainND
ENTPD7-
-
-
-
1LossND
ENTPD8-
-
-
-
1LossND
ENTR1-
-
-
-
1LossND
EP300-
-
-
-
3GainND
EP400p.P2881S
Missense
SNP
0.436
2-ND
EPB41L1p.R827Q
Missense
SNP
0.472
2-ND
EPB41L4A-
-
-
-
3GainND
EPB41L4B-
-
-
-
1LossND
EPB42p.G216R
Missense
SNP
0.328
2-ND
EPC1-
-
-
-
3GainND
EPCAMp.H227Y
Missense
SNP
0.609
2-ND
EPDR1-
-
-
-
3GainND
EPHA1-
-
-
-
3GainND
EPHA4p.S361F
Missense
SNP
0.514
2-ND
EPHB1p.R222W
Missense
SNP
0.534
2-ND
EPHB2p.E612K
Missense
SNP
0.450
2-ND
EPHB4-
-
-
-
3GainND
EPHB6-
-
-
-
3GainND
EPHX1-
-
-
-
1LossND
EPN3-
-
-
-
4GainND
EPO-
-
-
-
3GainND
EPOP-
-
-
-
4GainND
EPPK1p.E2209K
Missense
SNP
0.493
2-ND
EPRS-
-
-
-
1LossND
EPS8L2-
-
-
-
1LossND
EPX-
-
-
-
4GainND
EQTN-
-
-
-
1LossND
ERAL1-
-
-
-
4GainND
ERAP1-
-
-
-
1LossND
ERAP2-
-
-
-
1LossND
ERBB2-
-
-
-
4GainND
ERBIN-
-
-
-
1LossND
ERCC6p.R612*
Nonsense
SNP
0.484
3GainND
ERCC6L2-
-
-
-
1LossND
ERCC8-
-
-
-
1LossND
ERG28-
-
-
-
3GainND
ERGIC1-
-
-
-
3GainND
ERH-
-
-
-
3GainND
ERLIN1-
-
-
-
1LossND
ERMP1-
-
-
-
1LossND
ERN1-
-
-
-
4GainND
ERN2p.H161Y
Missense
SNP
0.517
2-ND
ERO1A-
-
-
-
3GainND
ERP44-
-
-
-
1LossND
ERV3-1-
-
-
-
3GainND
ESAM-
-
-
-
1LossND
ESM1-
-
-
-
1LossND
ESR2-
-
-
-
3GainND
ESRRA-
-
-
-
1LossND
ESRRB-
-
-
-
3GainND
ESRRG-
-
-
-
1LossND
ESS2-
-
-
-
3GainND
ETF1-
-
-
-
3GainND
ETNPPLp.S214F
Missense
SNP
0.409
2-ND
ETS1-
-
-
-
1LossND
ETV1-
-
-
-
3GainND
ETV4-
-
-
-
4GainND
ETV7p.P341S
Missense
SNP
0.592
2-ND
EVI2A-
-
-
-
4GainND
EVI2B-
-
-
-
4GainND
EVL-
-
-
-
3GainND
EVPL-
-
-
-
4GainND
EVX1-
-
-
-
3GainND
EWSR1-
-
-
-
3GainND
EXD2-
-
-
-
3GainND
EXD3-
-
-
-
1LossND
EXOC3-
-
-
-
1LossND
EXOC3L4-
-
-
-
3GainND
EXOC4-
-
-
-
3GainND
EXOC5-
-
-
-
3GainND
EXOC6-
-
-
-
1LossND
EXOC6Bp.D204N
Missense
SNP
0.483
2-ND
EXOC7-
-
-
-
4GainND
EXOSC1-
-
-
-
1LossND
EXOSC2-
-
-
-
1LossND
EXPH5-
-
-
-
1LossND
EXT2-
-
-
-
1LossND
EYSp.R2242H
Missense
SNP
0.564
2-ND
EZH1-
-
-
-
4GainND
EZH2-
-
-
-
3GainND
F11p.S250F
Missense
SNP
0.556
2-ND
F12-
-
-
-
3GainND
F13A1p.R253K
Missense
SNP
0.475
2-ND
F2-
-
-
-
1LossND
F2R-
-
-
-
1LossND
F2RL1-
-
-
-
1LossND
F2RL2-
-
-
-
1LossND
F5p.S1434N
p.R712C
Missense
Missense
SNP
SNP
0.494
0.483
2-ND
F7p.E325K
Missense
SNP
0.620
2-ND
F9p.R298Q
Missense
SNP
1.000
NDNDND
FAAH2p.R232*
Nonsense
SNP
1.000
NDNDND
FAAP100-
-
-
-
4GainND
FABP6-
-
-
-
3GainND
FADD-
-
-
-
1LossND
FADS1-
-
-
-
1LossND
FADS2-
-
-
-
1LossND
FADS3-
-
-
-
1LossND
FADS6-
-
-
-
4GainND
FAF2-
-
-
-
3GainND
FAM102A-
-
-
-
1LossND
FAM104A-
-
-
-
4GainND
FAM105Ap.E275K
Missense
SNP
1.000
NDNDND
FAM107B-
-
-
-
3GainND
FAM111A-
-
-
-
1LossND
FAM111B-
-
-
-
1LossND
FAM114A2-
-
-
-
3GainND
FAM117A-
-
-
-
4GainND
FAM118A-
-
-
-
3GainND
FAM118B-
-
-
-
1LossND
FAM120A-
-
-
-
1LossND
FAM120AOS-
-
-
-
1LossND
FAM122A-
-
-
-
1LossND
FAM126A-
-
-
-
3GainND
FAM129Ap.E743K
Missense
SNP
0.495
2-ND
FAM129B-
-
-
-
1LossND
FAM129Cp.E7K
Missense
SNP
1.000
2-ND
FAM131B-
-
-
-
3GainND
FAM134Ap.P471L
Missense
SNP
0.474
NDNDND
FAM135Bp.M1345I
p.E1100K
Missense
Missense
SNP
SNP
0.645
0.385
2-ND
FAM13B-
-
-
-
3GainND
FAM13C-
-
-
-
3GainND
FAM149B1-
-
-
-
3GainND
FAM151B-
-
-
-
1LossND
FAM153A-
-
-
-
3GainND
FAM153B-
-
-
-
3GainND
FAM153C-
-
-
-
3GainND
FAM160A2-
-
-
-
1LossND
FAM160B1-
-
-
-
1LossND
FAM161B-
-
-
-
3GainND
FAM163B-
-
-
-
1LossND
FAM166A-
-
-
-
1LossND
FAM168A-
-
-
-
1LossND
FAM169A-
-
-
-
1LossND
FAM170Ap.D201N
Missense
SNP
0.340
3GainND
FAM170B-
-
-
-
3GainND
FAM171A1p.L324F
Missense
SNP
0.653
3GainND
FAM171A2-
-
-
-
4GainND
FAM172A-
-
-
-
1LossND
FAM173B-
-
-
-
1LossND
FAM174A-
-
-
-
1LossND
FAM177A1-
-
-
-
3GainND
FAM180A-
-
-
-
3GainND
FAM180B-
-
-
-
1LossND
FAM181A-
-
-
-
3GainND
FAM181B-
-
-
-
1LossND
FAM184Bp.E230K
Missense
SNP
0.514
2-ND
FAM185A-
-
-
-
3GainND
FAM187A-
-
-
-
4GainND
FAM189A2-
-
-
-
1LossND
FAM193B-
-
-
-
3GainND
FAM19A5-
-
-
-
3GainND
FAM204A-
-
-
-
1LossND
FAM206A-
-
-
-
1LossND
FAM208B-
-
-
-
3GainND
FAM209Bp.R96C
Missense
SNP
0.483
2-ND
FAM20A-
-
-
-
3GainND
FAM20C-
-
-
-
3GainND
FAM219Bp.P116A
Missense
SNP
0.398
2-ND
FAM220A-
-
-
-
3GainND
FAM221A-
-
-
-
3GainND
FAM222B-
-
-
-
4GainND
FAM227A-
-
-
-
3GainND
FAM241B-
-
-
-
3GainND
FAM24A-
-
-
-
1LossND
FAM24B-
-
-
-
1LossND
FAM3C-
-
-
-
3GainND
FAM45A-
-
-
-
1LossND
FAM46Dp.S198F
Missense
SNP
1.000
NDNDND
FAM47Ap.W705*
Nonsense
SNP
1.000
NDNDND
FAM47Cp.R795G
Missense
SNP
1.000
NDNDND
FAM53B-
-
-
-
1LossND
FAM53C-
-
-
-
3GainND
FAM58Ap.Q187*
Nonsense
SNP
1.000
NDNDND
FAM65Cp.E908K
Missense
SNP
0.392
NDNDND
FAM69B-
-
-
-
1LossND
FAM69C-
-
-
-
1LossND
FAM71Ap.R412Q
Missense
SNP
0.512
2-ND
FAM71Bp.R111C
Missense
SNP
0.614
3GainND
FAM71D-
-
-
-
3GainND
FAM71F1-
-
-
-
3GainND
FAM71F2-
-
-
-
3GainND
FAM73Ap.H111Y
Missense
SNP
0.529
NDNDND
FAM76B-
-
-
-
1LossND
FAM78A-
-
-
-
1LossND
FAM81B-
-
-
-
1LossND
FAM83Bp.S429L
p.E555K
Missense
Missense
SNP
SNP
0.490
0.491
2-ND
FAM83F-
-
-
-
3GainND
FAM86C1-
-
-
-
1LossND
FAM89B-
-
-
-
1LossND
FAM91A1p.E622K
Missense
SNP
0.367
2-ND
FANCC-
-
-
-
1LossND
FANCF-
-
-
-
1LossND
FANCM-
-
-
-
3GainND
FANK1-
-
-
-
1LossND
FAR1-
-
-
-
1LossND
FAS-
-
-
-
1LossND
FASN-
-
-
-
4GainND
FASTK-
-
-
-
3GainND
FASTKD3-
-
-
-
1LossND
FAT2-
-
-
-
3GainND
FAT3p.E457K
Missense
SNP
1.000
1LossND
FAT4p.D2046N
p.S2053F
p.S3495F
p.S3885L
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.460
0.441
0.427
0.416
2-ND
FAU-
-
-
-
1LossND
FAXDC2-
-
-
-
3GainND
FBF1-
-
-
-
4GainND
FBH1-
-
-
-
3GainND
FBLL1-
-
-
-
3GainND
FBLN1-
-
-
-
3GainND
FBLN5-
-
-
-
3GainND
FBN2p.G1713E
p.D1063N
Missense
Missense
SNP
SNP
0.362
0.643
3GainND
FBP1-
-
-
-
1LossND
FBP2-
-
-
-
1LossND
FBRSL1p.P746S
Missense
SNP
0.451
2-ND
FBXL13-
-
-
-
3GainND
FBXL15-
-
-
-
1LossND
FBXL17-
-
-
-
3GainND
FBXL20-
-
-
-
4GainND
FBXL7-
-
-
-
1LossND
FBXO15-
-
-
-
1LossND
FBXO22p.P350S
Missense
SNP
0.561
2-ND
FBXO24p.G72E
Missense
SNP
0.728
3GainND
FBXO3-
-
-
-
1LossND
FBXO33-
-
-
-
3GainND
FBXO34-
-
-
-
3GainND
FBXO38-
-
-
-
3GainND
FBXO4-
-
-
-
1LossND
FBXO47-
-
-
-
4GainND
FBXO7-
-
-
-
3GainND
FBXW11-
-
-
-
3GainND
FBXW2-
-
-
-
1LossND
FBXW4-
-
-
-
1LossND
FBXW5-
-
-
-
1LossND
FCF1-
-
-
-
3GainND
FCHO2-
-
-
-
1LossND
FCHSD1-
-
-
-
3GainND
FCHSD2-
-
-
-
1LossND
FCN1-
-
-
-
1LossND
FCN2-
-
-
-
1LossND
FDCSPp.E84K
Missense
SNP
0.550
2-ND
FDX1-
-
-
-
1LossND
FDXACB1-
-
-
-
1LossND
FDXR-
-
-
-
4GainND
FECH-
-
-
-
1LossND
FEM1C-
-
-
-
3GainND
FEN1-
-
-
-
1LossND
FER-
-
-
-
3GainND
FERD3L-
-
-
-
3GainND
FERMT2-
-
-
-
3GainND
FERMT3-
-
-
-
1LossND
FEZ1-
-
-
-
1LossND
FEZF1-
-
-
-
3GainND
FFAR4-
-
-
-
1LossND
FGD3-
-
-
-
1LossND
FGD5p.P530L
Missense
SNP
0.453
2-ND
FGF1-
-
-
-
3GainND
FGF10-
-
-
-
1LossND
FGF18-
-
-
-
3GainND
FGF19-
-
-
-
1LossND
FGF3-
-
-
-
1LossND
FGF4-
-
-
-
1LossND
FGF8-
-
-
-
1LossND
FGFBP3-
-
-
-
1LossND
FGFR2-
-
-
-
1LossND
FGFR4-
-
-
-
3GainND
FGL2-
-
-
-
3GainND
FHL5p.G120E
Missense
SNP
0.488
2-ND
FIBCD1-
-
-
-
1LossND
FIBIN-
-
-
-
1LossND
FIBP-
-
-
-
1LossND
FILIP1p.G538E
Missense
SNP
0.380
2-ND
FIS1-
-
-
-
3GainND
FITM1-
-
-
-
3GainND
FJX1-
-
-
-
1LossND
FKBP10-
-
-
-
4GainND
FKBP14-
-
-
-
3GainND
FKBP15-
-
-
-
1LossND
FKBP2-
-
-
-
1LossND
FKBP3-
-
-
-
3GainND
FKBP9-
-
-
-
3GainND
FKTN-
-
-
-
1LossND
FLGp.D2520N
p.E1563K
p.D411N
p.E218K
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.499
0.481
0.500
0.495
2-ND
FLI1p.G429R
Missense
SNP
1.000
1LossND
FLNCp.R2141Q
Missense
SNP
0.739
3GainND
FLOT2-
-
-
-
4GainND
FLRT1-
-
-
-
1LossND
FLRT2-
-
-
-
5AmpND
FLT1p.E65K
Missense
SNP
0.584
2-ND
FLT4p.S239L
Missense
SNP
0.345
3GainND
FLVCR2-
-
-
-
3GainND
FMNL1-
-
-
-
4GainND
FN3K-
-
-
-
4GainND
FN3KRP-
-
-
-
4GainND
FNBP1-
-
-
-
1LossND
FNBP4-
-
-
-
1LossND
FNDC8-
-
-
-
3GainND
FNDC9-
-
-
-
3GainND
FNIP1-
-
-
-
3GainND
FNTB-
-
-
-
3GainND
FO681492.1-
-
-
-
3GainND
FOCAD-
-
-
-
1LossND
FOLH1-
-
-
-
1LossND
FOLR1-
-
-
-
1LossND
FOLR2-
-
-
-
1LossND
FOLR3-
-
-
-
1LossND
FOS-
-
-
-
3GainND
FOSL1-
-
-
-
1LossND
FOXA1-
-
-
-
3GainND
FOXB2-
-
-
-
1LossND
FOXD1-
-
-
-
1LossND
FOXE1-
-
-
-
1LossND
FOXG1-
-
-
-
3GainND
FOXI1-
-
-
-
3GainND
FOXI2-
-
-
-
1LossND
FOXJ1-
-
-
-
4GainND
FOXK1-
-
-
-
3GainND
FOXK2-
-
-
-
4GainND
FOXN1p.D313N
Missense
SNP
0.515
4GainND
FOXN3-
-
-
-
3GainND
FOXP2-
-
-
-
3GainND
FOXR1-
-
-
-
1LossND
FOXRED1-
-
-
-
1LossND
FOXRED2-
-
-
-
3GainND
FPGS-
-
-
-
1LossND
FRA10AC1-
-
-
-
1LossND
FRAS1p.G3143E
p.D3442N
Missense
Missense
SNP
SNP
0.484
0.449
2-ND
FRAT1-
-
-
-
1LossND
FRAT2-
-
-
-
1LossND
FREM1p.D1408N
Missense
SNP
1.000
1LossND
FREM2p.P91S
p.P1233S
p.G1428R
Missense
Missense
Missense
SNP
SNP
SNP
0.410
0.379
0.334
2-ND
FRG2B-
-
-
-
1LossND
FRKp.E247K
Missense
SNP
0.520
2-ND
FRMD3-
-
-
-
1LossND
FRMD4A-
-
-
-
3GainND
FRMD6-
-
-
-
3GainND
FRMD8-
-
-
-
1LossND
FRMPD2-
-
-
-
3GainND
FRMPD3p.E621K
Missense
SNP
1.000
NDNDND
FRRS1L-
-
-
-
1LossND
FRYp.E2916K
Missense
SNP
0.641
2-ND
FRYLp.P2057S
Missense
SNP
0.514
2-ND
FSCB-
-
-
-
3GainND
FSCN2-
-
-
-
4GainND
FSCN3-
-
-
-
3GainND
FSD1L-
-
-
-
1LossND
FSHB-
-
-
-
1LossND
FSHRp.E466K
p.H139L
Missense
Missense
SNP
SNP
0.517
0.397
2-ND
FSIP1p.S338F
Missense
SNP
0.653
2-ND
FSIP2p.P6284S
Missense
SNP
0.610
2-ND
FST-
-
-
-
1LossND
FSTL4-
-
-
-
3GainND
FTH1-
-
-
-
1LossND
FTMT-
-
-
-
3GainND
FTSJ3-
-
-
-
4GainND
FUBP3-
-
-
-
1LossND
FUOM-
-
-
-
1LossND
FUT11-
-
-
-
3GainND
FUT4-
-
-
-
1LossND
FUT7-
-
-
-
1LossND
FUT8-
-
-
-
3GainND
FUT9p.G7E
Missense
SNP
0.458
2-ND
FXN-
-
-
-
1LossND
FXYD2-
-
-
-
1LossND
FXYD4-
-
-
-
3GainND
FXYD6-
-
-
-
1LossND
FXYD6-FXYD2-
-
-
-
1LossND
FYBp.P163S
Missense
SNP
1.000
NDNDND
FYB1-
-
-
-
1LossND
FZD10p.E379K
Missense
SNP
0.473
2-ND
FZD2-
-
-
-
4GainND
FZD4-
-
-
-
1LossND
FZD8-
-
-
-
3GainND
G2E3-
-
-
-
3GainND
G3BP1-
-
-
-
3GainND
G6PC-
-
-
-
4GainND
G6PC3-
-
-
-
4GainND
GAA-
-
-
-
4GainND
GAB2-
-
-
-
1LossND
GABBR2-
-
-
-
1LossND
GABRA1-
-
-
-
3GainND
GABRA3p.G177E
Missense
SNP
1.000
NDNDND
GABRA6p.H369Y
Missense
SNP
0.357
3GainND
GABRB2-
-
-
-
3GainND
GABRG2-
-
-
-
3GainND
GABRP-
-
-
-
3GainND
GABRR1p.E223K
Missense
SNP
0.491
2-ND
GAD2-
-
-
-
3GainND
GADD45G-
-
-
-
1LossND
GALp.E30K
Missense
SNP
1.000
1LossND
GAL3ST1-
-
-
-
3GainND
GAL3ST3-
-
-
-
1LossND
GAL3ST4-
-
-
-
3GainND
GALC-
-
-
-
3GainND
GALK1-
-
-
-
4GainND
GALNT10-
-
-
-
3GainND
GALNT11-
-
-
-
3GainND
GALNT12-
-
-
-
1LossND
GALNT13p.H124Y
Missense
SNP
0.416
2-ND
GALNT16-
-
-
-
3GainND
GALNT18-
-
-
-
1LossND
GALNT5p.D689N
Missense
SNP
0.535
2-ND
GALNTL5-
-
-
-
3GainND
GALR1-
-
-
-
1LossND
GALR2p.S120F
Missense
SNP
0.487
4GainND
GALR3-
-
-
-
3GainND
GANAB-
-
-
-
1LossND
GAPTp.G105E
Missense
SNP
1.000
1LossND
GAPVD1-
-
-
-
1LossND
GARNL3-
-
-
-
1LossND
GARS-
-
-
-
3GainND
GAS1-
-
-
-
1LossND
GAS2-
-
-
-
1LossND
GAS2L1-
-
-
-
3GainND
GAS2L2-
-
-
-
3GainND
GAST-
-
-
-
4GainND
GATA3-
-
-
-
3GainND
GATD1-
-
-
-
1LossND
GBF1-
-
-
-
1LossND
GBGT1-
-
-
-
1LossND
GBP1p.G132E
Missense
SNP
0.430
2-ND
GBP6p.G293E
Missense
SNP
0.515
2-ND
GBX1-
-
-
-
3GainND
GCAT-
-
-
-
3GainND
GCC1-
-
-
-
3GainND
GCGR-
-
-
-
4GainND
GCH1-
-
-
-
3GainND
GCK-
-
-
-
3GainND
GCM2p.D294N
Missense
SNP
0.492
2-ND
GCNT1-
-
-
-
1LossND
GCNT4-
-
-
-
1LossND
GDA-
-
-
-
1LossND
GDF10-
-
-
-
3GainND
GDF2-
-
-
-
3GainND
GDF9-
-
-
-
3GainND
GDI2-
-
-
-
3GainND
GDNF-
-
-
-
1LossND
GDPD1-
-
-
-
4GainND
GDPD4-
-
-
-
1LossND
GDPD5-
-
-
-
1LossND
GEMIN2-
-
-
-
3GainND
GEMIN5-
-
-
-
3GainND
GET4-
-
-
-
3GainND
GFAP-
-
-
-
4GainND
GFI1B-
-
-
-
1LossND
GFM2-
-
-
-
1LossND
GFPT2-
-
-
-
3GainND
GFRA1-
-
-
-
1LossND
GFRA3-
-
-
-
3GainND
GGA1-
-
-
-
3GainND
GGA3-
-
-
-
4GainND
GGCT-
-
-
-
3GainND
GGNBP2-
-
-
-
3GainND
GGT1-
-
-
-
3GainND
GGT2-
-
-
-
3GainND
GGT5-
-
-
-
3GainND
GGTLC2-
-
-
-
3GainND
GH1-
-
-
-
4GainND
GH2-
-
-
-
4GainND
GHDC-
-
-
-
4GainND
GHITM-
-
-
-
1LossND
GHRp.H336Y
Missense
SNP
1.000
1LossND
GHRHR-
-
-
-
3GainND
GIF-
-
-
-
1LossND
GIGYF1-
-
-
-
3GainND
GIMAP1p.V243M
Missense
SNP
0.271
3GainND
GIMAP1-GIMAP5-
-
-
-
3GainND
GIMAP2-
-
-
-
3GainND
GIMAP4-
-
-
-
3GainND
GIMAP5-
-
-
-
3GainND
GIMAP6-
-
-
-
3GainND
GIMAP7-
-
-
-
3GainND
GIMAP8-
-
-
-
3GainND
GIN1-
-
-
-
1LossND
GIP-
-
-
-
4GainND
GIPC2p.E288K
Missense
SNP
0.617
2-ND
GIT1-
-
-
-
4GainND
GJA10p.L178F
p.D525N
Missense
Missense
SNP
SNP
0.572
0.367
2-ND
GJA9p.D67N
Missense
SNP
0.407
2-ND
GJC1-
-
-
-
4GainND
GJC2-
-
-
-
1LossND
GJD3-
-
-
-
4GainND
GJD4-
-
-
-
3GainND
GKAP1-
-
-
-
1LossND
GLB1L2-
-
-
-
1LossND
GLB1L3-
-
-
-
1LossND
GLCCI1-
-
-
-
3GainND
GLDC-
-
-
-
1LossND
GLE1-
-
-
-
1LossND
GLI2p.S580F
p.S1426L
Missense
Missense
SNP
SNP
0.450
0.517
2-ND
GLI3-
-
-
-
3GainND
GLIS1p.G111E
Missense
SNP
0.570
2-ND
GLIS3-
-
-
-
1LossND
GLRA1-
-
-
-
3GainND
GLRA3p.E136K
Missense
SNP
0.487
2-ND
GLRBp.R212Q
p.P482S
Missense
Missense
SNP
SNP
0.525
0.484
2-ND
GLRX-
-
-
-
1LossND
GLRX3-
-
-
-
1LossND
GLRX5-
-
-
-
3GainND
GLT6D1-
-
-
-
1LossND
GLUD1-
-
-
-
1LossND
GLYAT-
-
-
-
1LossND
GLYATL1p.W323*
Nonsense
SNP
1.000
1LossND
GLYATL1B-
-
-
-
1LossND
GLYATL2-
-
-
-
1LossND
GM2A-
-
-
-
3GainND
GMCL2-
-
-
-
3GainND
GMEB2p.M305I
Missense
SNP
0.507
2-ND
GMFB-
-
-
-
3GainND
GMPR2-
-
-
-
3GainND
GNA12-
-
-
-
3GainND
GNA13-
-
-
-
4GainND
GNA14-
-
-
-
1LossND
GNAI1-
-
-
-
3GainND
GNAQ-
-
-
-
1LossND
GNAT3-
-
-
-
3GainND
GNAZ-
-
-
-
3GainND
GNB1L-
-
-
-
3GainND
GNB2-
-
-
-
3GainND
GNG10-
-
-
-
1LossND
GNG2-
-
-
-
3GainND
GNG3-
-
-
-
1LossND
GNGT2-
-
-
-
4GainND
GNPDA1-
-
-
-
3GainND
GNPNAT1-
-
-
-
3GainND
GOLGA1-
-
-
-
1LossND
GOLGA2-
-
-
-
1LossND
GOLGA5-
-
-
-
3GainND
GOLGA6Dp.G672S
Missense
SNP
0.409
NDNDND
GOLGA7B-
-
-
-
1LossND
GOLM1-
-
-
-
1LossND
GOLPH3-
-
-
-
1LossND
GON7-
-
-
-
3GainND
GOSR1-
-
-
-
4GainND
GOSR2-
-
-
-
4GainND
GOT1-
-
-
-
1LossND
GP1BB-
-
-
-
3GainND
GPAM-
-
-
-
1LossND
GPATCH2-
-
-
-
1LossND
GPATCH2L-
-
-
-
3GainND
GPATCH8-
-
-
-
4GainND
GPBP1-
-
-
-
1LossND
GPC2-
-
-
-
3GainND
GPD2p.F293L
Missense
SNP
0.459
2-ND
GPER1-
-
-
-
3GainND
GPHA2-
-
-
-
1LossND
GPHB5-
-
-
-
3GainND
GPHN-
-
-
-
3GainND
GPNMB-
-
-
-
3GainND
GPR107-
-
-
-
1LossND
GPR132-
-
-
-
3GainND
GPR135-
-
-
-
3GainND
GPR137-
-
-
-
1LossND
GPR137C-
-
-
-
3GainND
GPR139p.R217C
Missense
SNP
0.463
2-ND
GPR141-
-
-
-
3GainND
GPR142-
-
-
-
4GainND
GPR146-
-
-
-
3GainND
GPR150-
-
-
-
1LossND
GPR151-
-
-
-
3GainND
GPR152-
-
-
-
1LossND
GPR158p.E772K
Missense
SNP
0.332
3GainND
GPR179-
-
-
-
4GainND
GPR21-
-
-
-
1LossND
GPR22-
-
-
-
3GainND
GPR26-
-
-
-
1LossND
GPR33-
-
-
-
3GainND
GPR37-
-
-
-
3GainND
GPR65-
-
-
-
3GainND
GPR68-
-
-
-
3GainND
GPR83-
-
-
-
1LossND
GPR85-
-
-
-
3GainND
GPRC5Cp.R226W
Missense
SNP
0.478
4GainND
GPRC6Ap.P692S
p.R222Q
Missense
Missense
SNP
SNP
0.461
0.468
2-ND
GPRIN1-
-
-
-
3GainND
GPRIN2-
-
-
-
3GainND
GPS1-
-
-
-
4GainND
GPSM1-
-
-
-
1LossND
GPX2-
-
-
-
3GainND
GPX3-
-
-
-
3GainND
GPX8-
-
-
-
1LossND
GRAMD1B-
-
-
-
1LossND
GRAMD2B-
-
-
-
3GainND
GRAMD4-
-
-
-
3GainND
GRAP2-
-
-
-
3GainND
GRB14p.E282K
Missense
SNP
0.566
2-ND
GRB2-
-
-
-
4GainND
GRB7p.D133N
Missense
SNP
0.447
4GainND
GRIA1-
-
-
-
3GainND
GRIA2p.E591K
Missense
SNP
0.489
2-ND
GRIA4-
-
-
-
1LossND
GRID1-
-
-
-
1LossND
GRID2p.R345Q
Missense
SNP
0.432
2-ND
GRID2IP-
-
-
-
3GainND
GRIFIN-
-
-
-
3GainND
GRIK4-
-
-
-
1LossND
GRIN1-
-
-
-
1LossND
GRIN2Ap.E1461K
p.G1322E
p.E412K
Missense
Missense
Missense
SNP
SNP
SNP
0.505
0.421
0.473
2-ND
GRIN2C-
-
-
-
4GainND
GRIN3A-
-
-
-
1LossND
GRK2-
-
-
-
1LossND
GRK3-
-
-
-
3GainND
GRK5-
-
-
-
1LossND
GRK6-
-
-
-
3GainND
GRK7p.M341I
Missense
SNP
0.545
2-ND
GRM1p.D191N
Missense
SNP
0.414
2-ND
GRM3p.G18R
p.D194N
p.E870K
Missense
Missense
Missense
SNP
SNP
SNP
0.713
0.224
0.223
3GainND
GRM5-
-
-
-
1LossND
GRM6p.E254K
Missense
SNP
0.657
3GainND
GRM7p.R340Q
Missense
SNP
0.514
2-ND
GRM8p.S411F
Missense
SNP
0.706
3GainND
GRN-
-
-
-
4GainND
GRP-
-
-
-
1LossND
GRPEL2-
-
-
-
3GainND
GRXCR2-
-
-
-
3GainND
GSAPp.R181C
Missense
SNP
0.669
3GainND
GSC-
-
-
-
3GainND
GSC2-
-
-
-
3GainND
GSDMA-
-
-
-
4GainND
GSDMBp.Q184*
Nonsense
SNP
0.538
4GainND
GSDME-
-
-
-
3GainND
GSKIP-
-
-
-
3GainND
GSN-
-
-
-
1LossND
GSTK1-
-
-
-
3GainND
GSTM5p.E49K
Missense
SNP
0.276
2-ND
GSTO1-
-
-
-
1LossND
GSTO2-
-
-
-
1LossND
GSTP1-
-
-
-
1LossND
GSTT2-
-
-
-
3GainND
GSTT2B-
-
-
-
3GainND
GSTT4-
-
-
-
3GainND
GSTZ1-
-
-
-
3GainND
GTF2A1-
-
-
-
3GainND
GTF2H1-
-
-
-
1LossND
GTF2H2-
-
-
-
1LossND
GTF2H2C-
-
-
-
1LossND
GTF2I-
-
-
-
3GainND
GTF2IRD1-
-
-
-
3GainND
GTF2IRD2-
-
-
-
3GainND
GTF2IRD2B-
-
-
-
3GainND
GTF3C4-
-
-
-
1LossND
GTF3C5-
-
-
-
1LossND
GTPBP1-
-
-
-
3GainND
GTPBP4-
-
-
-
3GainND
GTSE1-
-
-
-
3GainND
GUCD1-
-
-
-
3GainND
GUCY1A2-
-
-
-
1LossND
GUCY1A3p.R614Q
Missense
SNP
0.440
NDNDND
GUK1-
-
-
-
1LossND
GUSB-
-
-
-
3GainND
GVQW3-
-
-
-
1LossND
GYS2p.P197S
Missense
SNP
0.495
2-ND
GZF1-
-
-
-
3GainND
GZMA-
-
-
-
1LossND
GZMB-
-
-
-
3GainND
GZMH-
-
-
-
3GainND
GZMK-
-
-
-
1LossND
H1F0-
-
-
-
3GainND
H2AFV-
-
-
-
3GainND
H2AFX-
-
-
-
1LossND
H2AFY-
-
-
-
3GainND
H2AFY2-
-
-
-
3GainND
H3F3A-
-
-
-
1LossND
H3F3B-
-
-
-
4GainND
HABP2-
-
-
-
1LossND
HABP4-
-
-
-
1LossND
HACD1-
-
-
-
3GainND
HACD4-
-
-
-
1LossND
HACE1p.S51L
Missense
SNP
0.569
2-ND
HAND1-
-
-
-
3GainND
HAP1-
-
-
-
4GainND
HAPLN1-
-
-
-
1LossND
HAPLN2p.P151S
Missense
SNP
0.472
2-ND
HAPLN3p.L106F
Missense
SNP
0.582
2-ND
HARBI1-
-
-
-
1LossND
HARS-
-
-
-
3GainND
HARS2-
-
-
-
3GainND
HAS2p.S421L
p.M71I
Missense
Missense
SNP
SNP
0.513
0.460
2-ND
HAUS4-
-
-
-
3GainND
HAUS6-
-
-
-
1LossND
HAVCR1-
-
-
-
3GainND
HAVCR2-
-
-
-
3GainND
HBB-
-
-
-
1LossND
HBD-
-
-
-
1LossND
HBE1-
-
-
-
1LossND
HBEGF-
-
-
-
3GainND
HBG1-
-
-
-
1LossND
HBG2-
-
-
-
1LossND
HBP1-
-
-
-
3GainND
HCN1p.R504Q
Missense
SNP
1.000
1LossND
HCRT-
-
-
-
4GainND
HCRTR2p.S19L
Missense
SNP
0.497
2-ND
HDAC10-
-
-
-
3GainND
HDAC3-
-
-
-
3GainND
HDAC5-
-
-
-
4GainND
HDAC9-
-
-
-
3GainND
HDHD3-
-
-
-
1LossND
HEATR4-
-
-
-
3GainND
HEATR5A-
-
-
-
3GainND
HEATR6-
-
-
-
4GainND
HEATR9-
-
-
-
3GainND
HECTD1-
-
-
-
3GainND
HECTD2-
-
-
-
1LossND
HECW1-
-
-
-
3GainND
HELLS-
-
-
-
1LossND
HELZ-
-
-
-
4GainND
HEMGN-
-
-
-
1LossND
HEPACAM-
-
-
-
1LossND
HEPACAM2p.S423L
p.G153E
p.G151E
Missense
Missense
Missense
SNP
SNP
SNP
0.269
0.665
0.288
2-ND
HEPHL1-
-
-
-
1LossND
HEPN1-
-
-
-
1LossND
HERC4-
-
-
-
3GainND
HERPUD2-
-
-
-
3GainND
HEXB-
-
-
-
1LossND
HEXDC-
-
-
-
4GainND
HEXIM1-
-
-
-
4GainND
HEXIM2-
-
-
-
4GainND
HGF-
-
-
-
3GainND
HGS-
-
-
-
4GainND
HHEX-
-
-
-
1LossND
HHIPL1-
-
-
-
3GainND
HIBADH-
-
-
-
3GainND
HIC2-
-
-
-
3GainND
HID1-
-
-
-
4GainND
HIF1A-
-
-
-
3GainND
HIF1AN-
-
-
-
1LossND
HIF3Ap.E161K
Missense
SNP
0.980
2-ND
HIGD1B-
-
-
-
4GainND
HIGD2A-
-
-
-
3GainND
HIKESHI-
-
-
-
1LossND
HILPDA-
-
-
-
3GainND
HINFP-
-
-
-
1LossND
HINT1-
-
-
-
3GainND
HIP1-
-
-
-
3GainND
HIPK3-
-
-
-
1LossND
HIRA-
-
-
-
3GainND
HIVEP1p.H456Y
Missense
SNP
0.499
2-ND
HIVEP3p.P875S
Missense
SNP
0.504
2-ND
HK1-
-
-
-
3GainND
HK3-
-
-
-
3GainND
HKDC1-
-
-
-
3GainND
HLF-
-
-
-
4GainND
HMBS-
-
-
-
1LossND
HMCN1p.S133F
Missense
SNP
0.519
2-ND
HMCN2-
-
-
-
1LossND
HMGCR-
-
-
-
1LossND
HMGCS1-
-
-
-
1LossND
HMGXB3-
-
-
-
3GainND
HMGXB4-
-
-
-
3GainND
HMHB1-
-
-
-
3GainND
HMMR-
-
-
-
3GainND
HMOX1-
-
-
-
3GainND
HMSD-
-
-
-
1LossND
HMX2-
-
-
-
1LossND
HMX3-
-
-
-
1LossND
HNF1B-
-
-
-
4GainND
HNRNPA0-
-
-
-
3GainND
HNRNPA2B1-
-
-
-
3GainND
HNRNPAB-
-
-
-
3GainND
HNRNPC-
-
-
-
3GainND
HNRNPF-
-
-
-
3GainND
HNRNPH1-
-
-
-
3GainND
HNRNPH3-
-
-
-
3GainND
HNRNPK-
-
-
-
1LossND
HNRNPUL2-
-
-
-
1LossND
HNRNPUL2-BSCL2-
-
-
-
1LossND
HOGA1-
-
-
-
1LossND
HOMER1-
-
-
-
1LossND
HOMEZ-
-
-
-
3GainND
HORMAD2-
-
-
-
3GainND
HOXA1-
-
-
-
3GainND
HOXA10-
-
-
-
3GainND
HOXA11-
-
-
-
3GainND
HOXA13-
-
-
-
3GainND
HOXA2-
-
-
-
3GainND
HOXA3-
-
-
-
3GainND
HOXA4-
-
-
-
3GainND
HOXA5-
-
-
-
3GainND
HOXA6-
-
-
-
3GainND
HOXA7-
-
-
-
3GainND
HOXA9-
-
-
-
3GainND
HOXB1-
-
-
-
4GainND
HOXB13-
-
-
-
4GainND
HOXB2-
-
-
-
4GainND
HOXB3-
-
-
-
4GainND
HOXB4-
-
-
-
4GainND
HOXB5-
-
-
-
4GainND
HOXB6-
-
-
-
4GainND
HOXB7-
-
-
-
4GainND
HOXB8-
-
-
-
4GainND
HOXB9-
-
-
-
4GainND
HPS1-
-
-
-
1LossND
HPS4-
-
-
-
3GainND
HPS5-
-
-
-
1LossND
HPS6-
-
-
-
1LossND
HPSE2-
-
-
-
1LossND
HPX-
-
-
-
1LossND
HRAS-
-
-
-
1LossND
HRASLS2-
-
-
-
1LossND
HRASLS5-
-
-
-
1LossND
HRGp.P478S
Missense
SNP
0.472
2-ND
HRH2-
-
-
-
3GainND
HS3ST1p.P138S
Missense
SNP
0.468
2-ND
HS3ST2p.P188S
p.E284K
Missense
Missense
SNP
SNP
0.512
0.551
2-ND
HSBP1L1-
-
-
-
1LossND
HSCB-
-
-
-
3GainND
HSD11B1p.E200K
Missense
SNP
0.446
2-ND
HSD17B1-
-
-
-
4GainND
HSD17B12-
-
-
-
1LossND
HSD17B3-
-
-
-
1LossND
HSD17B4-
-
-
-
3GainND
HSDL2p.P267L
Missense
SNP
1.000
1LossND
HSF5-
-
-
-
4GainND
HSP90AA1-
-
-
-
3GainND
HSPA12A-
-
-
-
1LossND
HSPA14-
-
-
-
3GainND
HSPA2-
-
-
-
3GainND
HSPA4-
-
-
-
3GainND
HSPA5-
-
-
-
1LossND
HSPA8-
-
-
-
1LossND
HSPA9-
-
-
-
3GainND
HSPB1-
-
-
-
3GainND
HSPB2-
-
-
-
1LossND
HSPB2-C11orf52-
-
-
-
1LossND
HSPB3-
-
-
-
1LossND
HSPB9-
-
-
-
4GainND
HTATIP2-
-
-
-
1LossND
HTR1A-
-
-
-
1LossND
HTR1Bp.R230C
Missense
SNP
0.367
2-ND
HTR1Ep.T284I
Missense
SNP
0.513
2-ND
HTR3A-
-
-
-
1LossND
HTR3B-
-
-
-
1LossND
HTR4-
-
-
-
3GainND
HTR5A-
-
-
-
3GainND
HTR7-
-
-
-
1LossND
HTRA1-
-
-
-
1LossND
HUWE1p.S3377L
p.L2590F
Missense
Missense
SNP
SNP
1.000
1.000
NDNDND
HYAL4-
-
-
-
3GainND
HYDINp.G2558R
p.R1644C
Missense
Missense
SNP
SNP
0.448
0.429
2-ND
HYLS1-
-
-
-
1LossND
HYOU1-
-
-
-
1LossND
IARS-
-
-
-
1LossND
IARS2-
-
-
-
1LossND
IBA57-
-
-
-
1LossND
ICA1-
-
-
-
3GainND
ICAM2-
-
-
-
4GainND
ICE1p.P1304L
Missense
SNP
0.996
1LossND
IDE-
-
-
-
1LossND
IDI1-
-
-
-
3GainND
IDI2-
-
-
-
3GainND
IDNK-
-
-
-
1LossND
IER5L-
-
-
-
1LossND
IFI27-
-
-
-
3GainND
IFI27L1-
-
-
-
3GainND
IFI27L2-
-
-
-
3GainND
IFI35-
-
-
-
4GainND
IFIT1-
-
-
-
1LossND
IFIT1B-
-
-
-
1LossND
IFIT2-
-
-
-
1LossND
IFIT3-
-
-
-
1LossND
IFIT5-
-
-
-
1LossND
IFITM1-
-
-
-
1LossND
IFITM10-
-
-
-
1LossND
IFITM2-
-
-
-
1LossND
IFITM3-
-
-
-
1LossND
IFITM5-
-
-
-
1LossND
IFNA1-
-
-
-
1LossND
IFNA10-
-
-
-
1LossND
IFNA13-
-
-
-
1LossND
IFNA14-
-
-
-
1LossND
IFNA16-
-
-
-
1LossND
IFNA17-
-
-
-
1LossND
IFNA2-
-
-
-
1LossND
IFNA21-
-
-
-
1LossND
IFNA4-
-
-
-
1LossND
IFNA5-
-
-
-
1LossND
IFNA6-
-
-
-
1LossND
IFNA7-
-
-
-
1LossND
IFNA8-
-
-
-
1LossND
IFNB1-
-
-
-
1LossND
IFNE-
-
-
-
1LossND
IFNK-
-
-
-
1LossND
IFNW1-
-
-
-
1LossND
IFRD1-
-
-
-
3GainND
IFT20-
-
-
-
4GainND
IFT22-
-
-
-
3GainND
IFT27-
-
-
-
3GainND
IFT43-
-
-
-
3GainND
IFT46-
-
-
-
1LossND
IFT74-
-
-
-
1LossND
IGF2-
-
-
-
1LossND
IGF2BP1-
-
-
-
4GainND
IGF2BP3-
-
-
-
3GainND
IGFBP4-
-
-
-
4GainND
IGFN1p.W3221*
Nonsense
SNP
0.439
2-ND
IGHD-
-
-
-
3GainND
IGHMBP2-
-
-
-
1LossND
IGHV3-72-
-
-
-
3GainND
IGIP-
-
-
-
3GainND
IGKV1-5p.P30S
Missense
SNP
0.494
NDNDND
IGKV3-15p.P64S
Missense
SNP
0.205
NDNDND
IGLL1-
-
-
-
3GainND
IGLL5-
-
-
-
3GainND
IGLV10-54-
-
-
-
3GainND
IGSF21p.G343E
Missense
SNP
0.461
2-ND
IGSF22-
-
-
-
1LossND
IGSF9p.E1174K
Missense
SNP
0.508
2-ND
IGSF9B-
-
-
-
1LossND
IK-
-
-
-
3GainND
IKBKBp.E753K
Missense
SNP
0.520
2-ND
IKZF3p.H35Y
Missense
SNP
0.451
4GainND
IKZF5-
-
-
-
1LossND
IL10RA-
-
-
-
1LossND
IL12B-
-
-
-
3GainND
IL13-
-
-
-
3GainND
IL15RA-
-
-
-
3GainND
IL17B-
-
-
-
3GainND
IL17REL-
-
-
-
3GainND
IL18-
-
-
-
1LossND
IL18BPp.S53F
Missense
SNP
0.992
1LossND
IL1RAPL1p.G330E
Missense
SNP
1.000
NDNDND
IL25-
-
-
-
3GainND
IL2RA-
-
-
-
3GainND
IL2RB-
-
-
-
3GainND
IL3-
-
-
-
3GainND
IL31RA-
-
-
-
1LossND
IL33-
-
-
-
1LossND
IL36RNp.P137S
Missense
SNP
0.411
2-ND
IL4-
-
-
-
3GainND
IL5-
-
-
-
3GainND
IL5RAp.G251E
Missense
SNP
0.651
2-ND
IL6-
-
-
-
3GainND
IL6ST-
-
-
-
1LossND
IL7R-
-
-
-
1LossND
IL9-
-
-
-
3GainND
ILDR2p.R65C
Missense
SNP
0.528
2-ND
ILK-
-
-
-
1LossND
IMMP1L-
-
-
-
1LossND
IMMP2L-
-
-
-
3GainND
IMPDH1-
-
-
-
3GainND
INA-
-
-
-
1LossND
INCA1p.G100E
Missense
SNP
1.000
2-ND
INCENP-
-
-
-
1LossND
INF2-
-
-
-
3GainND
ING3-
-
-
-
3GainND
INHBA-
-
-
-
3GainND
INIP-
-
-
-
1LossND
INMT-
-
-
-
3GainND
INMT-MINDY4-
-
-
-
3GainND
INO80Cp.S204F
Missense
SNP
0.422
2-ND
INPP5Dp.E813K
Missense
SNP
0.464
2-ND
INPP5E-
-
-
-
1LossND
INPP5F-
-
-
-
1LossND
INPP5J-
-
-
-
3GainND
INPPL1-
-
-
-
1LossND
INS-
-
-
-
1LossND
INS-IGF2-
-
-
-
1LossND
INSC-
-
-
-
1LossND
INSIG1-
-
-
-
3GainND
INSL4-
-
-
-
1LossND
INSL6-
-
-
-
1LossND
INSM2-
-
-
-
3GainND
INSRRp.Q589*
Nonsense
SNP
0.514
2-ND
INSYN2-
-
-
-
1LossND
INSYN2B-
-
-
-
3GainND
INTS1p.P1575S
Missense
SNP
0.260
3GainND
INTS2-
-
-
-
4GainND
INTS4-
-
-
-
1LossND
INTS5-
-
-
-
1LossND
INVS-
-
-
-
1LossND
IPMK-
-
-
-
3GainND
IPO11-
-
-
-
1LossND
IPO4-
-
-
-
3GainND
IPO7-
-
-
-
1LossND
IPPK-
-
-
-
1LossND
IQCE-
-
-
-
3GainND
IQCHp.Q105*
p.V1002I
Nonsense
Missense
SNP
SNP
0.540
0.639
2-ND
IQGAP2-
-
-
-
1LossND
IQUB-
-
-
-
3GainND
IRF1-
-
-
-
3GainND
IRF2BPL-
-
-
-
3GainND
IRF5-
-
-
-
3GainND
IRF7-
-
-
-
1LossND
IRF9-
-
-
-
3GainND
IRGM-
-
-
-
3GainND
IRS2p.S1048L
Missense
SNP
0.425
2-ND
IRX1-
-
-
-
1LossND
IRX2-
-
-
-
1LossND
IRX4-
-
-
-
1LossND
ISCA1-
-
-
-
1LossND
ISCA2-
-
-
-
3GainND
ISL1-
-
-
-
1LossND
ISM2-
-
-
-
3GainND
ISOC1-
-
-
-
3GainND
ISPD-
-
-
-
3GainND
ISXp.R86C
Missense
SNP
0.310
3GainND
ITGA1-
-
-
-
1LossND
ITGA2-
-
-
-
1LossND
ITGA2B-
-
-
-
4GainND
ITGA3-
-
-
-
4GainND
ITGA8-
-
-
-
3GainND
ITGAEp.G166D
Missense
SNP
1.000
2-ND
ITGB3-
-
-
-
4GainND
ITGB4-
-
-
-
4GainND
ITGB8p.P146S
Missense
SNP
0.766
3GainND
ITGBL1p.G262E
Missense
SNP
0.312
2-ND
ITIH2-
-
-
-
3GainND
ITIH5-
-
-
-
3GainND
ITK-
-
-
-
3GainND
ITPK1-
-
-
-
3GainND
ITPKB-
-
-
-
1LossND
ITPR2p.P646S
Missense
SNP
0.536
2-ND
ITPRID1-
-
-
-
3GainND
ITPRIP-
-
-
-
1LossND
IZUMO1R-
-
-
-
1LossND
IZUMO3-
-
-
-
1LossND
JADE2-
-
-
-
3GainND
JAG2-
-
-
-
3GainND
JAK2-
-
-
-
1LossND
JAKMIP2p.R309Q
p.Q39*
p.R6Q
Missense
Nonsense
Missense
SNP
SNP
SNP
0.677
0.681
0.328
3GainND
JAKMIP3-
-
-
-
1LossND
JAM3-
-
-
-
1LossND
JAML-
-
-
-
1LossND
JAZF1-
-
-
-
3GainND
JCAD-
-
-
-
3GainND
JDP2-
-
-
-
3GainND
JHY-
-
-
-
1LossND
JKAMP-
-
-
-
3GainND
JMJD1C-
-
-
-
3GainND
JMJD4-
-
-
-
1LossND
JMJD6-
-
-
-
4GainND
JMY-
-
-
-
1LossND
JOSD1-
-
-
-
3GainND
JPH4-
-
-
-
3GainND
JPT1-
-
-
-
4GainND
JRKL-
-
-
-
1LossND
JUP-
-
-
-
4GainND
KALRNp.E609K
Missense
SNP
0.465
2-ND
KANSL1-
-
-
-
4GainND
KAT2A-
-
-
-
4GainND
KAT5-
-
-
-
1LossND
KAT6B-
-
-
-
3GainND
KAT7-
-
-
-
4GainND
KAT8p.P282S
Missense
SNP
0.361
2-ND
KAZALD1-
-
-
-
1LossND
KBTBD2-
-
-
-
3GainND
KBTBD3-
-
-
-
1LossND
KBTBD4-
-
-
-
1LossND
KCNA4-
-
-
-
1LossND
KCNB2p.P761S
Missense
SNP
0.462
2-ND
KCNC1-
-
-
-
1LossND
KCNC2p.E573K
Missense
SNP
0.436
2-ND
KCND2p.G622E
Missense
SNP
0.728
3GainND
KCNE3-
-
-
-
1LossND
KCNG1p.R205C
p.E183K
Missense
Missense
SNP
SNP
0.448
0.511
2-ND
KCNG2-
-
-
-
1LossND
KCNH2-
-
-
-
3GainND
KCNH4p.R216C
Missense
SNP
0.492
4GainND
KCNH5p.H54Y
Missense
SNP
0.650
3GainND
KCNH6p.E801K
Missense
SNP
0.507
4GainND
KCNIP1-
-
-
-
3GainND
KCNIP2-
-
-
-
1LossND
KCNJ1-
-
-
-
1LossND
KCNJ11-
-
-
-
1LossND
KCNJ16-
-
-
-
4GainND
KCNJ2-
-
-
-
4GainND
KCNJ4-
-
-
-
3GainND
KCNJ5-
-
-
-
1LossND
KCNK1-
-
-
-
1LossND
KCNK10p.S51F
Missense
SNP
0.347
3GainND
KCNK13-
-
-
-
3GainND
KCNK18-
-
-
-
1LossND
KCNK4-
-
-
-
1LossND
KCNK7-
-
-
-
1LossND
KCNMA1p.D475N
Missense
SNP
1.000
1LossND
KCNMB1-
-
-
-
3GainND
KCNN2-
-
-
-
3GainND
KCNQ1-
-
-
-
1LossND
KCNQ3p.S868F
p.P409S
Missense
Missense
SNP
SNP
0.500
0.480
2-ND
KCNT1-
-
-
-
1LossND
KCNT2p.E118K
Missense
SNP
0.397
2-ND
KCNU1p.M637I
Missense
SNP
0.482
2-ND
KCNV2-
-
-
-
1LossND
KCP-
-
-
-
3GainND
KCTD14-
-
-
-
1LossND
KCTD16-
-
-
-
3GainND
KCTD17-
-
-
-
3GainND
KCTD2-
-
-
-
4GainND
KCTD21-
-
-
-
1LossND
KCTD7-
-
-
-
3GainND
KDELC2-
-
-
-
1LossND
KDELR2-
-
-
-
3GainND
KDELR3-
-
-
-
3GainND
KDM2A-
-
-
-
1LossND
KDM3B-
-
-
-
3GainND
KDM4C-
-
-
-
1LossND
KDM4D-
-
-
-
1LossND
KDM4E-
-
-
-
1LossND
KDM4F-
-
-
-
1LossND
KDRp.L782F
p.S544F
Missense
Missense
SNP
SNP
0.467
0.497
2-ND
KDSR-
-
-
-
1LossND
KEL-
-
-
-
3GainND
KHDC1Lp.E18K
Missense
SNP
0.490
2-ND
KHNYNp.P227S
Missense
SNP
0.662
3GainND
KIAA0100-
-
-
-
4GainND
KIAA0391-
-
-
-
3GainND
KIAA0408p.R275Q
Missense
SNP
0.467
2-ND
KIAA0586-
-
-
-
3GainND
KIAA0825-
-
-
-
1LossND
KIAA0895-
-
-
-
3GainND
KIAA0930-
-
-
-
3GainND
KIAA1024L-
-
-
-
3GainND
KIAA1109p.P3941S
Missense
SNP
0.519
2-ND
KIAA1191-
-
-
-
3GainND
KIAA1211Lp.G858E
Missense
SNP
0.475
2-ND
KIAA1217p.P1424S
Missense
SNP
0.613
3GainND
KIAA1324L-
-
-
-
3GainND
KIAA1462p.P349L
Missense
SNP
0.650
NDNDND
KIAA1549p.S303F
Missense
SNP
0.243
2-ND
KIAA1549L-
-
-
-
1LossND
KIAA1671-
-
-
-
3GainND
KIAA1958-
-
-
-
1LossND
KIAA2022p.M1229I
p.P339S
Missense
Missense
SNP
SNP
1.000
1.000
NDNDND
KIAA2026-
-
-
-
1LossND
KIF11-
-
-
-
1LossND
KIF12-
-
-
-
1LossND
KIF18A-
-
-
-
1LossND
KIF18B-
-
-
-
4GainND
KIF19-
-
-
-
4GainND
KIF1BP-
-
-
-
3GainND
KIF20A-
-
-
-
3GainND
KIF20B-
-
-
-
1LossND
KIF21Bp.E486K
Missense
SNP
0.508
2-ND
KIF24p.R229*
Nonsense
SNP
0.553
2-ND
KIF26A-
-
-
-
3GainND
KIF27-
-
-
-
1LossND
KIF2A-
-
-
-
1LossND
KIF2B-
-
-
-
4GainND
KIF3A-
-
-
-
3GainND
KIF4Bp.S33F
Missense
SNP
0.414
3GainND
KIF5Ap.X998_splice
Splice_Site
SNP
0.529
2-ND
KIF5B-
-
-
-
3GainND
KIF5Cp.S291F
p.R802W
Missense
Missense
SNP
SNP
0.480
0.520
2-ND
KIF6p.E367K
Missense
SNP
0.616
2-ND
KIN-
-
-
-
3GainND
KIRREL3-
-
-
-
1LossND
KLp.E716K
Missense
SNP
0.554
2-ND
KLC1-
-
-
-
3GainND
KLC2-
-
-
-
1LossND
KLF14-
-
-
-
3GainND
KLF4-
-
-
-
1LossND
KLF6-
-
-
-
3GainND
KLF9-
-
-
-
1LossND
KLHDC1-
-
-
-
3GainND
KLHDC10-
-
-
-
3GainND
KLHDC2-
-
-
-
3GainND
KLHDC7B-
-
-
-
3GainND
KLHL10-
-
-
-
4GainND
KLHL11-
-
-
-
4GainND
KLHL22-
-
-
-
3GainND
KLHL28-
-
-
-
3GainND
KLHL3-
-
-
-
3GainND
KLHL33-
-
-
-
3GainND
KLHL35-
-
-
-
1LossND
KLHL7-
-
-
-
3GainND
KLHL9-
-
-
-
1LossND
KLK9p.W79*
Nonsense
SNP
1.000
2-ND
KLKB1p.P55S
Missense
SNP
0.418
2-ND
KLLN-
-
-
-
1LossND
KLRG1p.S147L
Missense
SNP
0.383
2-ND
KMOp.G303E
Missense
SNP
0.506
2-ND
KMT2Ap.S3123L
Missense
SNP
1.000
1LossND
KMT2Cp.S2816F
Missense
SNP
0.229
3GainND
KMT2E-
-
-
-
3GainND
KMT5B-
-
-
-
1LossND
KNDC1-
-
-
-
1LossND
KPNA2-
-
-
-
4GainND
KPNB1-
-
-
-
4GainND
KRBA1-
-
-
-
3GainND
KREMEN1-
-
-
-
3GainND
KRT10p.G467E
Missense
SNP
0.254
4GainND
KRT12-
-
-
-
4GainND
KRT13-
-
-
-
4GainND
KRT14-
-
-
-
4GainND
KRT15-
-
-
-
4GainND
KRT16-
-
-
-
4GainND
KRT17-
-
-
-
4GainND
KRT19-
-
-
-
4GainND
KRT20-
-
-
-
4GainND
KRT222-
-
-
-
4GainND
KRT23-
-
-
-
4GainND
KRT24p.A152T
Missense
SNP
0.465
4GainND
KRT25-
-
-
-
4GainND
KRT26-
-
-
-
4GainND
KRT27-
-
-
-
4GainND
KRT28-
-
-
-
4GainND
KRT31-
-
-
-
3GainND
KRT32-
-
-
-
3GainND
KRT33A-
-
-
-
3GainND
KRT33B-
-
-
-
3GainND
KRT34-
-
-
-
3GainND
KRT35-
-
-
-
3GainND
KRT36-
-
-
-
4GainND
KRT37-
-
-
-
3GainND
KRT38-
-
-
-
3GainND
KRT39-
-
-
-
3GainND
KRT40-
-
-
-
3GainND
KRT5p.M389I
Missense
SNP
0.502
2-ND
KRT76p.R624C
Missense
SNP
0.479
2-ND
KRT82p.E335K
Missense
SNP
0.514
2-ND
KRT9-
-
-
-
4GainND
KRTAP1-1-
-
-
-
3GainND
KRTAP1-3-
-
-
-
3GainND
KRTAP1-5-
-
-
-
3GainND
KRTAP16-1-
-
-
-
3GainND
KRTAP17-1-
-
-
-
3GainND
KRTAP29-1-
-
-
-
3GainND
KRTAP3-1-
-
-
-
3GainND
KRTAP3-2-
-
-
-
3GainND
KRTAP3-3-
-
-
-
3GainND
KRTAP4-1-
-
-
-
3GainND
KRTAP4-11-
-
-
-
3GainND
KRTAP4-12-
-
-
-
3GainND
KRTAP4-16-
-
-
-
3GainND
KRTAP4-2-
-
-
-
3GainND
KRTAP4-3-
-
-
-
3GainND
KRTAP4-4-
-
-
-
3GainND
KRTAP4-6-
-
-
-
3GainND
KRTAP4-7-
-
-
-
3GainND
KRTAP4-8-
-
-
-
3GainND
KRTAP4-9-
-
-
-
3GainND
KRTAP5-1-
-
-
-
1LossND
KRTAP5-10-
-
-
-
1LossND
KRTAP5-11-
-
-
-
1LossND
KRTAP5-2-
-
-
-
1LossND
KRTAP5-3-
-
-
-
1LossND
KRTAP5-4-
-
-
-
1LossND
KRTAP5-5-
-
-
-
1LossND
KRTAP5-6-
-
-
-
1LossND
KRTAP5-7-
-
-
-
1LossND
KRTAP5-8-
-
-
-
1LossND
KRTAP5-9-
-
-
-
1LossND
KRTAP9-1-
-
-
-
3GainND
KRTAP9-2-
-
-
-
3GainND
KRTAP9-3-
-
-
-
3GainND
KRTAP9-4-
-
-
-
3GainND
KRTAP9-7-
-
-
-
3GainND
KRTAP9-8-
-
-
-
3GainND
KRTAP9-9-
-
-
-
3GainND
KSR1p.R265W
Missense
SNP
0.467
4GainND
KTN1-
-
-
-
3GainND
KYAT1-
-
-
-
1LossND
L2HGDH-
-
-
-
3GainND
L3HYPDH-
-
-
-
3GainND
L3MBTL2-
-
-
-
3GainND
L3MBTL4p.P134S
Missense
SNP
0.342
2-ND
LAMA5p.P1458S
Missense
SNP
0.488
2-ND
LAMB1p.R1026Q
Missense
SNP
0.688
3GainND
LAMB4-
-
-
-
3GainND
LAMC3p.G1197R
Missense
SNP
1.000
1LossND
LAMTOR1-
-
-
-
1LossND
LAMTOR4-
-
-
-
3GainND
LARGE1-
-
-
-
3GainND
LARGE2-
-
-
-
1LossND
LARP1-
-
-
-
3GainND
LARP1Bp.R871C
Missense
SNP
0.478
2-ND
LARP4B-
-
-
-
3GainND
LARS-
-
-
-
3GainND
LASP1-
-
-
-
4GainND
LAT2-
-
-
-
3GainND
LATS1p.P914S
Missense
SNP
0.397
2-ND
LAYN-
-
-
-
1LossND
LBHD1-
-
-
-
1LossND
LBR-
-
-
-
1LossND
LBX1-
-
-
-
1LossND
LCN1-
-
-
-
1LossND
LCN10-
-
-
-
1LossND
LCN12-
-
-
-
1LossND
LCN15-
-
-
-
1LossND
LCN2-
-
-
-
1LossND
LCN6-
-
-
-
1LossND
LCN8-
-
-
-
1LossND
LCN9-
-
-
-
1LossND
LCNL1-
-
-
-
1LossND
LCOR-
-
-
-
1LossND
LCP2-
-
-
-
3GainND
LDB1-
-
-
-
1LossND
LDB3-
-
-
-
1LossND
LDHA-
-
-
-
1LossND
LDHAL6A-
-
-
-
1LossND
LDHC-
-
-
-
1LossND
LDLRAD3-
-
-
-
1LossND
LEAP2-
-
-
-
3GainND
LECT2-
-
-
-
3GainND
LEFTY1-
-
-
-
1LossND
LEFTY2-
-
-
-
1LossND
LEP-
-
-
-
3GainND
LFNG-
-
-
-
3GainND
LGALS1-
-
-
-
3GainND
LGALS12-
-
-
-
1LossND
LGALS2-
-
-
-
3GainND
LGALS3-
-
-
-
3GainND
LGALS3BP-
-
-
-
4GainND
LGALS9-
-
-
-
4GainND
LGI1-
-
-
-
1LossND
LGMN-
-
-
-
3GainND
LGR4-
-
-
-
1LossND
LGSNp.E495K
Missense
SNP
0.500
2-ND
LHFPL2-
-
-
-
1LossND
LHFPL3-
-
-
-
3GainND
LHPP-
-
-
-
1LossND
LHX1-
-
-
-
3GainND
LHX2-
-
-
-
1LossND
LHX3-
-
-
-
1LossND
LHX6-
-
-
-
1LossND
LIF-
-
-
-
3GainND
LIFR-
-
-
-
1LossND
LIG3-
-
-
-
3GainND
LIMD2-
-
-
-
4GainND
LIMK1-
-
-
-
3GainND
LIMK2-
-
-
-
3GainND
LIN52-
-
-
-
3GainND
LIN7C-
-
-
-
1LossND
LIN9-
-
-
-
1LossND
LINC02210-CRHR1-
-
-
-
4GainND
LINGO2-
-
-
-
1LossND
LIPA-
-
-
-
1LossND
LIPF-
-
-
-
1LossND
LIPJ-
-
-
-
1LossND
LIPK-
-
-
-
1LossND
LIPMp.R139Q
Missense
SNP
1.000
1LossND
LIPN-
-
-
-
1LossND
LIPT2-
-
-
-
1LossND
LIX1-
-
-
-
1LossND
LLCFC1-
-
-
-
3GainND
LLGL2-
-
-
-
4GainND
LMAN1-
-
-
-
1LossND
LMAN1Lp.P521S
Missense
SNP
0.476
2-ND
LMAN2-
-
-
-
3GainND
LMBR1-
-
-
-
3GainND
LMBRD2-
-
-
-
1LossND
LMF2-
-
-
-
3GainND
LMLN2-
-
-
-
3GainND
LMNB1-
-
-
-
3GainND
LMNTD2-
-
-
-
1LossND
LMO1-
-
-
-
1LossND
LMO2-
-
-
-
1LossND
LMO7p.E448K
p.S999L
Missense
Missense
SNP
SNP
0.453
0.547
2-ND
LMOD2p.D210N
Missense
SNP
0.254
3GainND
LMOD3p.E121K
Missense
SNP
0.333
2-ND
LMX1B-
-
-
-
1LossND
LNPEP-
-
-
-
1LossND
LOX-
-
-
-
3GainND
LOXHD1p.E538K
Missense
SNP
0.465
2-ND
LOXL4-
-
-
-
1LossND
LPAp.P1119S
Missense
SNP
0.525
2-ND
LPAR1-
-
-
-
1LossND
LPCAT1-
-
-
-
1LossND
LPIN2p.S425L
Missense
SNP
0.442
2-ND
LPO-
-
-
-
4GainND
LPXN-
-
-
-
1LossND
LRCH2p.S315F
Missense
SNP
1.000
NDNDND
LRCH4-
-
-
-
3GainND
LRFN4-
-
-
-
1LossND
LRFN5p.E511K
p.G595E
Missense
Missense
SNP
SNP
0.620
0.382
NDNDND
LRGUK-
-
-
-
3GainND
LRIG1p.E324K
Missense
SNP
0.514
2-ND
LRIT1-
-
-
-
1LossND
LRIT2-
-
-
-
1LossND
LRMDA-
-
-
-
3GainND
LRP10-
-
-
-
3GainND
LRP1Bp.R4139*
p.G3098E
Nonsense
Missense
SNP
SNP
0.478
0.463
2-ND
LRP2p.S1108F
p.G588R
Missense
Missense
SNP
SNP
0.473
0.457
2-ND
LRP4p.G40E
Missense
SNP
0.994
1LossND
LRP5-
-
-
-
1LossND
LRP5L-
-
-
-
3GainND
LRR1-
-
-
-
3GainND
LRRC10B-
-
-
-
1LossND
LRRC14B-
-
-
-
1LossND
LRRC16Ap.P1305S
Missense
SNP
0.503
NDNDND
LRRC17-
-
-
-
3GainND
LRRC18-
-
-
-
3GainND
LRRC19-
-
-
-
1LossND
LRRC20-
-
-
-
3GainND
LRRC26-
-
-
-
1LossND
LRRC32-
-
-
-
1LossND
LRRC37A3p.L1601V
Missense
SNP
0.506
4GainND
LRRC37B-
-
-
-
4GainND
LRRC3Bp.P63S
Missense
SNP
0.561
2-ND
LRRC3C-
-
-
-
4GainND
LRRC4-
-
-
-
3GainND
LRRC45-
-
-
-
4GainND
LRRC46-
-
-
-
4GainND
LRRC49p.E153K
Missense
SNP
0.298
2-ND
LRRC4C-
-
-
-
1LossND
LRRC55-
-
-
-
1LossND
LRRC56-
-
-
-
1LossND
LRRC59-
-
-
-
4GainND
LRRC61-
-
-
-
3GainND
LRRC66p.L451F
Missense
SNP
0.398
2-ND
LRRC70-
-
-
-
1LossND
LRRC72-
-
-
-
3GainND
LRRC74A-
-
-
-
3GainND
LRRC74B-
-
-
-
3GainND
LRRC75B-
-
-
-
3GainND
LRRC8A-
-
-
-
1LossND
LRRC8Dp.P391H
Missense
SNP
0.484
2-ND
LRRC9-
-
-
-
3GainND
LRRFIP1p.S581F
Missense
SNP
0.472
2-ND
LRRK2p.E198K
Missense
SNP
0.615
2-ND
LRRN2p.A449V
Missense
SNP
0.488
2-ND
LRRN3p.E417K
Missense
SNP
0.240
3GainND
LRRN4CL-
-
-
-
1LossND
LRRTM2p.P398S
Missense
SNP
0.658
3GainND
LRRTM3-
-
-
-
3GainND
LRSAM1-
-
-
-
1LossND
LRTM1p.G218E
Missense
SNP
0.516
2-ND
LRTOMT-
-
-
-
1LossND
LRWD1-
-
-
-
3GainND
LSAMPp.L305F
Missense
SNP
0.419
2-ND
LSM11-
-
-
-
3GainND
LSM12-
-
-
-
4GainND
LSM5-
-
-
-
3GainND
LSM8-
-
-
-
3GainND
LSMEM1-
-
-
-
3GainND
LSP1-
-
-
-
1LossND
LTB4R-
-
-
-
3GainND
LTB4R2-
-
-
-
3GainND
LTBP2-
-
-
-
3GainND
LTBP3-
-
-
-
1LossND
LTC4S-
-
-
-
3GainND
LTO1-
-
-
-
1LossND
LUC7L3-
-
-
-
4GainND
LURAP1L-
-
-
-
1LossND
LUZP2-
-
-
-
1LossND
LUZP6-
-
-
-
3GainND
LVRN-
-
-
-
3GainND
LY9p.S384F
Missense
SNP
0.438
2-ND
LYPLAL1-
-
-
-
1LossND
LYRM7-
-
-
-
3GainND
LYRM9-
-
-
-
4GainND
LYSMD3-
-
-
-
1LossND
LYVE1-
-
-
-
1LossND
LYZL1-
-
-
-
3GainND
LYZL2-
-
-
-
3GainND
LYZL6-
-
-
-
3GainND
LZTR1-
-
-
-
3GainND
LZTS2-
-
-
-
1LossND
MACC1-
-
-
-
3GainND
MACROD1-
-
-
-
1LossND
MAD1L1-
-
-
-
3GainND
MADD-
-
-
-
1LossND
MAFF-
-
-
-
3GainND
MAFG-
-
-
-
4GainND
MAFK-
-
-
-
3GainND
MAGEA4p.E53K
Missense
SNP
1.000
NDNDND
MAGEB18p.M327I
Missense
SNP
1.000
NDNDND
MAGEL2p.P798L
Missense
SNP
0.361
2-ND
MAGI2-
-
-
-
3GainND
MAJIN-
-
-
-
1LossND
MALRD1-
-
-
-
3GainND
MALSU1-
-
-
-
3GainND
MALT1-
-
-
-
1LossND
MAMDC2-
-
-
-
1LossND
MAMDC4-
-
-
-
1LossND
MAML1-
-
-
-
3GainND
MAML2-
-
-
-
1LossND
MAN1B1-
-
-
-
1LossND
MAN2A1-
-
-
-
3GainND
MAP10-
-
-
-
1LossND
MAP1B-
-
-
-
1LossND
MAP2K2p.S372F
Missense
SNP
0.997
2-ND
MAP2K6-
-
-
-
3GainND
MAP3K1-
-
-
-
1LossND
MAP3K11-
-
-
-
1LossND
MAP3K13p.P564S
Missense
SNP
0.422
2-ND
MAP3K14-
-
-
-
4GainND
MAP3K19p.S953F
Missense
SNP
0.549
2-ND
MAP3K21-
-
-
-
1LossND
MAP3K3-
-
-
-
4GainND
MAP3K5p.R284C
Missense
SNP
0.479
2-ND
MAP3K8-
-
-
-
3GainND
MAP3K9-
-
-
-
3GainND
MAP4K2-
-
-
-
1LossND
MAP4K5-
-
-
-
3GainND
MAP6-
-
-
-
1LossND
MAPK1-
-
-
-
3GainND
MAPK11-
-
-
-
3GainND
MAPK12-
-
-
-
3GainND
MAPK1IP1L-
-
-
-
3GainND
MAPK4p.I69N
Missense
SNP
0.513
2-ND
MAPK8-
-
-
-
3GainND
MAPK8IP1-
-
-
-
1LossND
MAPK8IP2-
-
-
-
3GainND
MAPK9-
-
-
-
3GainND
MAPKAP1-
-
-
-
1LossND
MAPKBP1p.H929Y
Missense
SNP
0.497
2-ND
MAPT-
-
-
-
4GainND
MARCH10-
-
-
-
4GainND
MARCH11-
-
-
-
1LossND
MARCH3-
-
-
-
3GainND
MARCH5-
-
-
-
1LossND
MARCH6-
-
-
-
1LossND
MARCH8-
-
-
-
3GainND
MARK2-
-
-
-
1LossND
MARK3-
-
-
-
3GainND
MARVELD1-
-
-
-
1LossND
MARVELD2p.P136S
Missense
SNP
1.000
1LossND
MASP2p.A305T
Missense
SNP
0.516
2-ND
MAST4-
-
-
-
1LossND
MASTL-
-
-
-
3GainND
MAT1A-
-
-
-
1LossND
MAT2B-
-
-
-
3GainND
MATR3-
-
-
-
3GainND
MAX-
-
-
-
3GainND
MB-
-
-
-
3GainND
MB21D1p.P257S
Missense
SNP
0.540
NDNDND
MBD2-
-
-
-
1LossND
MBIP-
-
-
-
3GainND
MBL2-
-
-
-
3GainND
MBLAC1-
-
-
-
3GainND
MBLAC2-
-
-
-
1LossND
MBP-
-
-
-
1LossND
MBTD1-
-
-
-
4GainND
MC4R-
-
-
-
1LossND
MC5Rp.M121I
Missense
SNP
0.502
2-ND
MCAM-
-
-
-
1LossND
MCAT-
-
-
-
3GainND
MCC-
-
-
-
3GainND
MCCC2-
-
-
-
1LossND
MCHR1-
-
-
-
3GainND
MCIDAS-
-
-
-
1LossND
MCM10-
-
-
-
3GainND
MCM5-
-
-
-
3GainND
MCM7-
-
-
-
3GainND
MCM9p.R585C
Missense
SNP
0.514
2-ND
MCMBP-
-
-
-
1LossND
MCRIP1-
-
-
-
4GainND
MCTP1-
-
-
-
1LossND
MCU-
-
-
-
3GainND
MDFIC-
-
-
-
3GainND
MDGA2p.G586S
Missense
SNP
0.371
3GainND
MDH2-
-
-
-
3GainND
MDK-
-
-
-
1LossND
MDP1-
-
-
-
3GainND
ME3-
-
-
-
1LossND
MECOMp.R625Q
Missense
SNP
0.490
2-ND
MED1-
-
-
-
4GainND
MED10-
-
-
-
1LossND
MED13-
-
-
-
4GainND
MED15-
-
-
-
3GainND
MED17-
-
-
-
1LossND
MED19-
-
-
-
1LossND
MED22-
-
-
-
1LossND
MED24-
-
-
-
4GainND
MED27-
-
-
-
1LossND
MED6-
-
-
-
3GainND
MED7-
-
-
-
3GainND
MEF2C-
-
-
-
1LossND
MEGF10-
-
-
-
3GainND
MEGF9-
-
-
-
1LossND
MEI1-
-
-
-
3GainND
MEIG1-
-
-
-
3GainND
MEIOCp.G587R
Missense
SNP
0.482
4GainND
MEN1-
-
-
-
1LossND
MEOX1-
-
-
-
4GainND
MEOX2-
-
-
-
3GainND
MEPCE-
-
-
-
3GainND
MEST-
-
-
-
3GainND
MET-
-
-
-
3GainND
METRNL-
-
-
-
4GainND
METTL15-
-
-
-
1LossND
METTL17-
-
-
-
3GainND
METTL23-
-
-
-
4GainND
METTL2A-
-
-
-
4GainND
METTL2B-
-
-
-
3GainND
METTL3-
-
-
-
3GainND
METTL7Ap.S181L
Missense
SNP
0.502
2-ND
MFAP3-
-
-
-
3GainND
MFNG-
-
-
-
3GainND
MFRP-
-
-
-
1LossND
MFSD11-
-
-
-
4GainND
MFSD13A-
-
-
-
1LossND
MFSD14B-
-
-
-
1LossND
MFSD14C-
-
-
-
1LossND
MGAMp.E513K
Missense
SNP
0.232
2-ND
MGAT1-
-
-
-
3GainND
MGAT2-
-
-
-
3GainND
MGAT3-
-
-
-
3GainND
MGAT4B-
-
-
-
3GainND
MGAT5B-
-
-
-
4GainND
MGMT-
-
-
-
1LossND
MIA2-
-
-
-
3GainND
MICAL2p.S1097F
Missense
SNP
1.000
1LossND
MICAL3p.P1253L
Missense
SNP
0.457
2-ND
MICALCLp.S20L
Missense
SNP
1.000
NDNDND
MICALL1-
-
-
-
3GainND
MICALL2-
-
-
-
3GainND
MICU1-
-
-
-
3GainND
MIEF1-
-
-
-
3GainND
MIEN1-
-
-
-
4GainND
MIER2p.E223K
Missense
SNP
1.000
2-ND
MIER3-
-
-
-
1LossND
MIF-
-
-
-
3GainND
MIF4GD-
-
-
-
4GainND
MIGA2-
-
-
-
1LossND
MILR1-
-
-
-
4GainND
MINDY3-
-
-
-
3GainND
MINDY4-
-
-
-
3GainND
MINPP1-
-
-
-
1LossND
MIOS-
-
-
-
3GainND
MIOX-
-
-
-
3GainND
MIPOL1-
-
-
-
3GainND
MIS18BP1-
-
-
-
3GainND
MIXL1-
-
-
-
1LossND
MKI67-
-
-
-
1LossND
MKLN1-
-
-
-
3GainND
MKS1-
-
-
-
4GainND
MKX-
-
-
-
3GainND
MLANA-
-
-
-
1LossND
MLC1-
-
-
-
3GainND
MLH3-
-
-
-
3GainND
MLLT10-
-
-
-
3GainND
MLLT3-
-
-
-
1LossND
MLLT6-
-
-
-
4GainND
MLX-
-
-
-
4GainND
MMD-
-
-
-
4GainND
MMP1-
-
-
-
1LossND
MMP10-
-
-
-
1LossND
MMP11-
-
-
-
3GainND
MMP12-
-
-
-
1LossND
MMP13-
-
-
-
1LossND
MMP14-
-
-
-
3GainND
MMP20-
-
-
-
1LossND
MMP21-
-
-
-
1LossND
MMP26-
-
-
-
1LossND
MMP27-
-
-
-
1LossND
MMP28-
-
-
-
3GainND
MMP3-
-
-
-
1LossND
MMP7-
-
-
-
1LossND
MMP8-
-
-
-
1LossND
MMRN2-
-
-
-
1LossND
MMS19-
-
-
-
1LossND
MN1-
-
-
-
3GainND
MNAT1-
-
-
-
3GainND
MNX1-
-
-
-
3GainND
MOAP1-
-
-
-
3GainND
MOB2-
-
-
-
1LossND
MOB3B-
-
-
-
1LossND
MOCS2-
-
-
-
1LossND
MOGAT2-
-
-
-
1LossND
MOGAT3-
-
-
-
3GainND
MOK-
-
-
-
3GainND
MORC2-
-
-
-
3GainND
MORN4-
-
-
-
1LossND
MORN5-
-
-
-
1LossND
MOSPD3-
-
-
-
3GainND
MOV10L1p.S2L
Missense
SNP
0.651
3GainND
MPDZ-
-
-
-
1LossND
MPEG1-
-
-
-
1LossND
MPLKIP-
-
-
-
3GainND
MPO-
-
-
-
4GainND
MPP2-
-
-
-
4GainND
MPP3-
-
-
-
4GainND
MPP5-
-
-
-
3GainND
MPP6-
-
-
-
3GainND
MPP7-
-
-
-
3GainND
MPPED1-
-
-
-
3GainND
MPPED2-
-
-
-
1LossND
MPST-
-
-
-
3GainND
MPZL2-
-
-
-
1LossND
MPZL3-
-
-
-
1LossND
MRC1-
-
-
-
3GainND
MRC2-
-
-
-
4GainND
MRE11-
-
-
-
1LossND
MRGPRD-
-
-
-
1LossND
MRGPRE-
-
-
-
1LossND
MRGPRF-
-
-
-
1LossND
MRGPRG-
-
-
-
1LossND
MRGPRX1-
-
-
-
1LossND
MRGPRX2-
-
-
-
1LossND
MRGPRX3-
-
-
-
1LossND
MRGPRX4-
-
-
-
1LossND
MRM1-
-
-
-
3GainND
MRM2-
-
-
-
3GainND
MRNIP-
-
-
-
3GainND
MROH2B-
-
-
-
1LossND
MRPL10-
-
-
-
4GainND
MRPL11-
-
-
-
1LossND
MRPL12-
-
-
-
4GainND
MRPL16-
-
-
-
1LossND
MRPL17-
-
-
-
1LossND
MRPL21-
-
-
-
1LossND
MRPL22-
-
-
-
3GainND
MRPL23-
-
-
-
1LossND
MRPL27-
-
-
-
4GainND
MRPL32-
-
-
-
3GainND
MRPL36-
-
-
-
1LossND
MRPL38-
-
-
-
4GainND
MRPL40-
-
-
-
3GainND
MRPL41-
-
-
-
1LossND
MRPL43-
-
-
-
1LossND
MRPL45-
-
-
-
4GainND
MRPL48-
-
-
-
1LossND
MRPL49-
-
-
-
1LossND
MRPL50-
-
-
-
1LossND
MRPL52-
-
-
-
3GainND
MRPL55-
-
-
-
1LossND
MRPL58-
-
-
-
4GainND
MRPS16-
-
-
-
3GainND
MRPS2-
-
-
-
1LossND
MRPS23-
-
-
-
4GainND
MRPS24-
-
-
-
3GainND
MRPS27-
-
-
-
1LossND
MRPS30-
-
-
-
1LossND
MRPS36-
-
-
-
1LossND
MRPS7-
-
-
-
4GainND
MRRF-
-
-
-
1LossND
MRTFA-
-
-
-
3GainND
MRVI1-
-
-
-
1LossND
MS4A1-
-
-
-
1LossND
MS4A10-
-
-
-
1LossND
MS4A12-
-
-
-
1LossND
MS4A13-
-
-
-
1LossND
MS4A14-
-
-
-
1LossND
MS4A15-
-
-
-
1LossND
MS4A18-
-
-
-
1LossND
MS4A2-
-
-
-
1LossND
MS4A3-
-
-
-
1LossND
MS4A4Ap.S159L
Missense
SNP
1.000
1LossND
MS4A4E-
-
-
-
1LossND
MS4A5-
-
-
-
1LossND
MS4A6A-
-
-
-
1LossND
MS4A6E-
-
-
-
1LossND
MS4A7-
-
-
-
1LossND
MS4A8-
-
-
-
1LossND
MSANTD2-
-
-
-
1LossND
MSANTD3-
-
-
-
1LossND
MSANTD3-TMEFF1-
-
-
-
1LossND
MSANTD4-
-
-
-
1LossND
MSH3-
-
-
-
1LossND
MSI2-
-
-
-
4GainND
MSL1-
-
-
-
4GainND
MSMB-
-
-
-
3GainND
MSRB2-
-
-
-
3GainND
MSS51-
-
-
-
3GainND
MSX2-
-
-
-
3GainND
MTA1-
-
-
-
3GainND
MTA2-
-
-
-
1LossND
MTAP-
-
-
-
1LossND
MTCH2-
-
-
-
1LossND
MTFP1p.P116L
Missense
SNP
0.352
3GainND
MTG1-
-
-
-
1LossND
MTHFD1p.P720L
Missense
SNP
0.573
3GainND
MTMR12-
-
-
-
1LossND
MTMR2-
-
-
-
1LossND
MTMR3-
-
-
-
3GainND
MTMR4-
-
-
-
4GainND
MTNR1B-
-
-
-
1LossND
MTORp.R2152C
p.P568S
Missense
Missense
SNP
SNP
0.378
0.487
2-ND
MTPAP-
-
-
-
3GainND
MTPN-
-
-
-
3GainND
MTREX-
-
-
-
1LossND
MTRR-
-
-
-
1LossND
MTURN-
-
-
-
3GainND
MTX3-
-
-
-
1LossND
MUC12-
-
-
-
3GainND
MUC15p.R300Q
Missense
SNP
1.000
1LossND
MUC16p.S8574F
p.S2253F
p.G138E
Missense
Missense
Missense
SNP
SNP
SNP
1.000
0.991
1.000
2-ND
MUC17p.S3461L
p.S4104F
Missense
Missense
SNP
SNP
0.255
0.739
3GainND
MUC2-
-
-
-
1LossND
MUC3A-
-
-
-
3GainND
MUC4p.E4963K
p.S792F
Missense
Missense
SNP
SNP
0.438
0.500
2-ND
MUC5AC-
-
-
-
1LossND
MUC5B-
-
-
-
1LossND
MUC6-
-
-
-
1LossND
MUS81-
-
-
-
1LossND
MUSK-
-
-
-
1LossND
MVB12B-
-
-
-
1LossND
MXD3-
-
-
-
3GainND
MXI1-
-
-
-
1LossND
MXRA7-
-
-
-
4GainND
MYADML2-
-
-
-
4GainND
MYBL2p.S607F
Missense
SNP
0.633
2-ND
MYBPC2p.E24K
Missense
SNP
1.000
2-ND
MYBPC3-
-
-
-
1LossND
MYCBPAP-
-
-
-
4GainND
MYEOV-
-
-
-
1LossND
MYH1p.E681K
Missense
SNP
1.000
2-ND
MYH13p.S1657F
Missense
SNP
1.000
2-ND
MYH2p.P544S
Missense
SNP
1.000
2-ND
MYH4p.E209K
Missense
SNP
1.000
2-ND
MYH6-
-
-
-
3GainND
MYH7p.E1162K
Missense
SNP
0.207
3GainND
MYH8p.E878K
Missense
SNP
1.000
2-ND
MYH9-
-
-
-
3GainND
MYL10-
-
-
-
3GainND
MYL4-
-
-
-
4GainND
MYL7-
-
-
-
3GainND
MYMK-
-
-
-
1LossND
MYO10-
-
-
-
1LossND
MYO15Bp.L1767F
Missense
SNP
0.375
4GainND
MYO16p.L35F
Missense
SNP
0.393
2-ND
MYO18A-
-
-
-
4GainND
MYO18Bp.E421K
Missense
SNP
0.320
3GainND
MYO19-
-
-
-
3GainND
MYO1D-
-
-
-
3GainND
MYO1G-
-
-
-
3GainND
MYO3Ap.S1395F
p.R1495Q
Missense
Missense
SNP
SNP
0.655
0.554
3GainND
MYO7A-
-
-
-
1LossND
MYOD1-
-
-
-
1LossND
MYOF-
-
-
-
1LossND
MYOM1p.H471Y
Missense
SNP
0.510
2-ND
MYOT-
-
-
-
3GainND
MYOZ1-
-
-
-
3GainND
MYOZ2p.R63K
Missense
SNP
0.402
2-ND
MYOZ3-
-
-
-
3GainND
MYPN-
-
-
-
3GainND
MYRF-
-
-
-
1LossND
MYT1Lp.E947K
Missense
SNP
0.593
2-ND
MYZAPp.E100K
Missense
SNP
0.528
2-ND
MZB1-
-
-
-
3GainND
N4BP3-
-
-
-
3GainND
NAA11p.S42F
Missense
SNP
0.450
2-ND
NAA30-
-
-
-
3GainND
NAA35-
-
-
-
1LossND
NAA40-
-
-
-
1LossND
NAALAD2-
-
-
-
1LossND
NAALADL1-
-
-
-
1LossND
NACA2-
-
-
-
4GainND
NACAD-
-
-
-
3GainND
NACC2-
-
-
-
1LossND
NADK2-
-
-
-
1LossND
NADSYN1-
-
-
-
1LossND
NAGA-
-
-
-
3GainND
NAGLU-
-
-
-
4GainND
NAGS-
-
-
-
4GainND
NAIF1-
-
-
-
1LossND
NAIP-
-
-
-
1LossND
NAMPT-
-
-
-
3GainND
NANOS1-
-
-
-
1LossND
NANS-
-
-
-
1LossND
NAP1L4-
-
-
-
1LossND
NAPB-
-
-
-
3GainND
NAPEPLD-
-
-
-
3GainND
NARF-
-
-
-
4GainND
NARS-
-
-
-
1LossND
NARS2-
-
-
-
1LossND
NAT10-
-
-
-
1LossND
NAT16-
-
-
-
3GainND
NAT2p.S274F
Missense
SNP
0.495
2-ND
NAT9-
-
-
-
4GainND
NAV2-
-
-
-
1LossND
NBEAL1p.S840L
Missense
SNP
0.311
2-ND
NBEAL2p.R274C
Missense
SNP
0.458
2-ND
NBR1-
-
-
-
4GainND
NCAM1-
-
-
-
1LossND
NCAPD3-
-
-
-
1LossND
NCAPH2-
-
-
-
3GainND
NCBP1-
-
-
-
1LossND
NCF1-
-
-
-
3GainND
NCF4-
-
-
-
3GainND
NCKAP5Lp.P441S
Missense
SNP
0.501
2-ND
NCLp.R597W
Missense
SNP
0.486
2-ND
NCOA4-
-
-
-
3GainND
NCOA6p.F1708Y
Missense
SNP
0.511
2-ND
NCOR2p.P1536S
Missense
SNP
0.454
2-ND
NCR3LG1-
-
-
-
1LossND
NCS1-
-
-
-
1LossND
NDFIP1-
-
-
-
3GainND
NDOR1-
-
-
-
1LossND
NDRG2-
-
-
-
3GainND
NDST1-
-
-
-
3GainND
NDST2-
-
-
-
3GainND
NDST3p.G357E
Missense
SNP
0.500
2-ND
NDST4p.S862L
Missense
SNP
0.429
2-ND
NDUFA2-
-
-
-
3GainND
NDUFA4-
-
-
-
3GainND
NDUFA5-
-
-
-
3GainND
NDUFA6-
-
-
-
3GainND
NDUFA8-
-
-
-
1LossND
NDUFAF2-
-
-
-
1LossND
NDUFAF8-
-
-
-
4GainND
NDUFB1-
-
-
-
3GainND
NDUFB6-
-
-
-
1LossND
NDUFB8-
-
-
-
1LossND
NDUFC2-
-
-
-
1LossND
NDUFC2-KCTD14-
-
-
-
1LossND
NDUFS3-
-
-
-
1LossND
NDUFS4-
-
-
-
1LossND
NDUFS6-
-
-
-
1LossND
NDUFS8-
-
-
-
1LossND
NDUFV1-
-
-
-
1LossND
NEBp.E2544K
Missense
SNP
0.487
2-ND
NEBL-
-
-
-
3GainND
NECTIN1-
-
-
-
1LossND
NEDD4L-
-
-
-
1LossND
NEDD8-
-
-
-
3GainND
NEDD8-MDP1-
-
-
-
3GainND
NEFH-
-
-
-
3GainND
NEK6-
-
-
-
1LossND
NEK8-
-
-
-
4GainND
NEK9-
-
-
-
3GainND
NELFB-
-
-
-
1LossND
NELL1-
-
-
-
1LossND
NELL2p.R724Q
Missense
SNP
0.404
2-ND
NEMF-
-
-
-
3GainND
NET1-
-
-
-
3GainND
NETO1p.R276Q
Missense
SNP
0.752
1LossND
NEU3-
-
-
-
1LossND
NEURL1-
-
-
-
1LossND
NEURL1B-
-
-
-
3GainND
NEUROD2-
-
-
-
4GainND
NEUROD6-
-
-
-
3GainND
NEUROG1-
-
-
-
3GainND
NEUROG3-
-
-
-
3GainND
NF1-
-
-
-
4GainND
NF2-
-
-
-
3GainND
NFAM1-
-
-
-
3GainND
NFASCp.E145K
Missense
SNP
0.467
2-ND
NFATC1p.S233F
Missense
SNP
0.295
1LossND
NFATC3p.R569C
Missense
SNP
0.511
2-ND
NFATC4-
-
-
-
3GainND
NFE2L1-
-
-
-
4GainND
NFE2L3-
-
-
-
3GainND
NFE4-
-
-
-
3GainND
NFIB-
-
-
-
1LossND
NFIL3-
-
-
-
1LossND
NFKB2-
-
-
-
1LossND
NFKBIA-
-
-
-
3GainND
NFRKB-
-
-
-
1LossND
NFX1-
-
-
-
1LossND
NGB-
-
-
-
3GainND
NGDN-
-
-
-
3GainND
NGFR-
-
-
-
4GainND
NHLRC2-
-
-
-
1LossND
NHP2-
-
-
-
3GainND
NID1p.E340K
Missense
SNP
0.532
2-ND
NID2-
-
-
-
3GainND
NIM1K-
-
-
-
1LossND
NIN-
-
-
-
3GainND
NINJ1-
-
-
-
1LossND
NIPAL4-
-
-
-
3GainND
NIPBL-
-
-
-
1LossND
NIPSNAP1-
-
-
-
3GainND
NIPSNAP3A-
-
-
-
1LossND
NIPSNAP3B-
-
-
-
1LossND
NKAIN2p.D180N
Missense
SNP
0.455
2-ND
NKAPD1-
-
-
-
1LossND
NKD2-
-
-
-
1LossND
NKIRAS2-
-
-
-
4GainND
NKX1-2-
-
-
-
1LossND
NKX2-1-
-
-
-
3GainND
NKX2-3-
-
-
-
1LossND
NKX2-5-
-
-
-
3GainND
NKX2-8-
-
-
-
3GainND
NLE1-
-
-
-
3GainND
NLGN1p.H742Y
Missense
SNP
0.516
2-ND
NLK-
-
-
-
4GainND
NLN-
-
-
-
1LossND
NLRC5p.R262H
Missense
SNP
0.441
2-ND
NLRP1p.R788K
Missense
SNP
1.000
2-ND
NLRP10-
-
-
-
1LossND
NLRP13p.E173K
Missense
SNP
1.000
2-ND
NLRP14-
-
-
-
1LossND
NLRP3p.D305N
Missense
SNP
0.463
2-ND
NLRP6-
-
-
-
1LossND
NLRX1-
-
-
-
1LossND
NME1-
-
-
-
4GainND
NME1-NME2-
-
-
-
4GainND
NME5-
-
-
-
3GainND
NME8-
-
-
-
3GainND
NMRK1-
-
-
-
1LossND
NMT1-
-
-
-
4GainND
NMT2-
-
-
-
3GainND
NMUR2-
-
-
-
3GainND
NNMT-
-
-
-
1LossND
NNT-
-
-
-
1LossND
NOBOX-
-
-
-
3GainND
NOC3L-
-
-
-
1LossND
NOD1-
-
-
-
3GainND
NODAL-
-
-
-
3GainND
NOG-
-
-
-
4GainND
NOL11-
-
-
-
4GainND
NOL12-
-
-
-
3GainND
NOL6-
-
-
-
1LossND
NOL8-
-
-
-
1LossND
NOLC1-
-
-
-
1LossND
NOM1-
-
-
-
3GainND
NOP16-
-
-
-
3GainND
NOP9-
-
-
-
3GainND
NOS2p.E145K
Missense
SNP
0.447
4GainND
NOS3-
-
-
-
3GainND
NOTCH1-
-
-
-
1LossND
NOTCH3p.P898S
Missense
SNP
1.000
2-ND
NOTUM-
-
-
-
4GainND
NOVA1p.R121*
Nonsense
SNP
0.699
3GainND
NOX4p.R455K
Missense
SNP
1.000
1LossND
NOXA1-
-
-
-
1LossND
NOXRED1-
-
-
-
3GainND
NPAP1p.G196R
Missense
SNP
0.396
2-ND
NPAS3-
-
-
-
3GainND
NPAS4p.M715I
Missense
SNP
1.000
1LossND
NPAT-
-
-
-
1LossND
NPB-
-
-
-
4GainND
NPC1L1-
-
-
-
3GainND
NPC2-
-
-
-
3GainND
NPDC1-
-
-
-
1LossND
NPEPPS-
-
-
-
4GainND
NPFFR1-
-
-
-
3GainND
NPFFR2p.M317I
Missense
SNP
0.537
2-ND
NPLOC4-
-
-
-
4GainND
NPM1-
-
-
-
3GainND
NPM3-
-
-
-
1LossND
NPR3-
-
-
-
1LossND
NPS-
-
-
-
1LossND
NPSR1p.L59F
Missense
SNP
0.724
3GainND
NPTX1-
-
-
-
4GainND
NPTXR-
-
-
-
3GainND
NPVF-
-
-
-
3GainND
NPY-
-
-
-
3GainND
NPY4R-
-
-
-
3GainND
NPY4R2-
-
-
-
3GainND
NR1D1-
-
-
-
4GainND
NR1H3-
-
-
-
1LossND
NR2F1-
-
-
-
1LossND
NR3C1-
-
-
-
3GainND
NR4A3-
-
-
-
1LossND
NR5A1-
-
-
-
1LossND
NR6A1-
-
-
-
1LossND
NRAP-
-
-
-
1LossND
NRARP-
-
-
-
1LossND
NRBF2-
-
-
-
3GainND
NRCAMp.P1007L
Missense
SNP
0.170
3GainND
NRDE2-
-
-
-
3GainND
NREP-
-
-
-
3GainND
NRF1-
-
-
-
3GainND
NRG2-
-
-
-
3GainND
NRG3-
-
-
-
1LossND
NRGN-
-
-
-
1LossND
NRIP3-
-
-
-
1LossND
NRKp.S762L
p.R1067Q
Missense
Missense
SNP
SNP
1.000
1.000
NDNDND
NRL-
-
-
-
3GainND
NRP1-
-
-
-
3GainND
NRXN1p.G1406E
p.R185C
Missense
Missense
SNP
SNP
0.419
0.430
2-ND
NRXN2-
-
-
-
1LossND
NRXN3p.S264F
Missense
SNP
0.351
3GainND
NSA2-
-
-
-
1LossND
NSD1-
-
-
-
3GainND
NSG2-
-
-
-
3GainND
NSMCE4A-
-
-
-
1LossND
NSMF-
-
-
-
1LossND
NSRP1-
-
-
-
4GainND
NSUN2-
-
-
-
1LossND
NSUN6-
-
-
-
3GainND
NSUN7p.P254L
Missense
SNP
0.569
2-ND
NT5C-
-
-
-
4GainND
NT5C2-
-
-
-
1LossND
NT5C3A-
-
-
-
3GainND
NT5C3B-
-
-
-
4GainND
NTMp.E184K
Missense
SNP
1.000
1LossND
NTMT1-
-
-
-
1LossND
NTN4p.R380C
Missense
SNP
0.431
2-ND
NTNG2-
-
-
-
1LossND
NTPCR-
-
-
-
1LossND
NTRK2-
-
-
-
1LossND
NTRK3p.E355K
Missense
SNP
0.431
2-ND
NUB1-
-
-
-
3GainND
NUBPL-
-
-
-
3GainND
NUCB2-
-
-
-
1LossND
NUDCD2-
-
-
-
3GainND
NUDCD3-
-
-
-
3GainND
NUDT1-
-
-
-
3GainND
NUDT12p.R280Q
Missense
SNP
1.000
1LossND
NUDT13-
-
-
-
3GainND
NUDT14-
-
-
-
3GainND
NUDT22-
-
-
-
1LossND
NUDT5-
-
-
-
3GainND
NUDT8-
-
-
-
1LossND
NUFIP1p.G267R
Missense
SNP
0.382
2-ND
NUFIP2-
-
-
-
4GainND
NUGGCp.G81R
Missense
SNP
0.504
2-ND
NUMA1-
-
-
-
1LossND
NUMB-
-
-
-
3GainND
NUP153p.S996F
Missense
SNP
0.539
2-ND
NUP155-
-
-
-
1LossND
NUP160-
-
-
-
1LossND
NUP188-
-
-
-
1LossND
NUP205-
-
-
-
3GainND
NUP214-
-
-
-
1LossND
NUP50-
-
-
-
3GainND
NUP62CLp.V175L
Missense
SNP
1.000
NDNDND
NUP85-
-
-
-
4GainND
NUP98-
-
-
-
1LossND
NUPL2-
-
-
-
3GainND
NUS1p.P255S
Missense
SNP
0.445
2-ND
NUTM2F-
-
-
-
1LossND
NUTM2G-
-
-
-
1LossND
NWD2p.E674K
Missense
SNP
0.496
2-ND
NXF1-
-
-
-
1LossND
NXNL2-
-
-
-
1LossND
NXPE1-
-
-
-
1LossND
NXPE2-
-
-
-
1LossND
NXPE4p.E172K
Missense
SNP
1.000
1LossND
NXPH1-
-
-
-
3GainND
NXPH3-
-
-
-
4GainND
NXT1-
-
-
-
3GainND
NYAP1-
-
-
-
3GainND
NYAP2p.D129N
Missense
SNP
0.498
2-ND
NYNRIN-
-
-
-
3GainND
OAF-
-
-
-
1LossND
OAT-
-
-
-
1LossND
OBP2A-
-
-
-
1LossND
OBP2B-
-
-
-
1LossND
OBSCN-
-
-
-
1LossND
OBSL1p.G935E
Missense
SNP
0.454
2-ND
OCLN-
-
-
-
1LossND
OCM-
-
-
-
3GainND
ODF2-
-
-
-
1LossND
ODF3-
-
-
-
1LossND
ODF3B-
-
-
-
3GainND
OGA-
-
-
-
1LossND
OGDH-
-
-
-
3GainND
OGDHLp.P872S
Missense
SNP
0.597
3GainND
OGFOD3-
-
-
-
4GainND
OGN-
-
-
-
1LossND
OIT3-
-
-
-
3GainND
OLAH-
-
-
-
3GainND
OLFM1-
-
-
-
1LossND
OLFML1-
-
-
-
1LossND
OLFML2A-
-
-
-
1LossND
OMD-
-
-
-
1LossND
OMG-
-
-
-
4GainND
OMP-
-
-
-
1LossND
ONECUT2-
-
-
-
1LossND
OOSP1-
-
-
-
1LossND
OOSP2-
-
-
-
1LossND
OPALIN-
-
-
-
1LossND
OPCML-
-
-
-
1LossND
OPN1SW-
-
-
-
3GainND
OPN4-
-
-
-
1LossND
OPTN-
-
-
-
3GainND
OR10A2-
-
-
-
1LossND
OR10A3p.R220*
p.E173K
Nonsense
Missense
SNP
SNP
1.000
1.000
1LossND
OR10A4-
-
-
-
1LossND
OR10A5-
-
-
-
1LossND
OR10A6-
-
-
-
1LossND
OR10AG1-
-
-
-
1LossND
OR10D3-
-
-
-
1LossND
OR10G2-
-
-
-
3GainND
OR10G3-
-
-
-
3GainND
OR10G4-
-
-
-
1LossND
OR10G7-
-
-
-
1LossND
OR10G8-
-
-
-
1LossND
OR10G9-
-
-
-
1LossND
OR10H5p.A65V
Missense
SNP
1.000
2-ND
OR10J3p.S6F
Missense
SNP
0.476
2-ND
OR10Q1-
-
-
-
1LossND
OR10S1-
-
-
-
1LossND
OR10V1-
-
-
-
1LossND
OR10W1-
-
-
-
1LossND
OR11G2p.P15S
Missense
SNP
0.576
3GainND
OR11H4-
-
-
-
3GainND
OR11H6-
-
-
-
3GainND
OR13A1-
-
-
-
3GainND
OR13C2-
-
-
-
1LossND
OR13C3-
-
-
-
1LossND
OR13C4-
-
-
-
1LossND
OR13C5-
-
-
-
1LossND
OR13C8-
-
-
-
1LossND
OR13C9-
-
-
-
1LossND
OR13D1-
-
-
-
1LossND
OR13F1-
-
-
-
1LossND
OR1B1-
-
-
-
1LossND
OR1D2p.G41E
Missense
SNP
1.000
2-ND
OR1J1-
-
-
-
1LossND
OR1J2-
-
-
-
1LossND
OR1J4-
-
-
-
1LossND
OR1K1p.R266Q
Missense
SNP
1.000
1LossND
OR1L1-
-
-
-
1LossND
OR1L3-
-
-
-
1LossND
OR1L4-
-
-
-
1LossND
OR1L6-
-
-
-
1LossND
OR1L8-
-
-
-
1LossND
OR1N1-
-
-
-
1LossND
OR1N2-
-
-
-
1LossND
OR1Q1-
-
-
-
1LossND
OR1S1-
-
-
-
1LossND
OR1S2-
-
-
-
1LossND
OR2A1-
-
-
-
3GainND
OR2A12-
-
-
-
3GainND
OR2A14-
-
-
-
3GainND
OR2A2-
-
-
-
3GainND
OR2A25-
-
-
-
3GainND
OR2A42-
-
-
-
3GainND
OR2A5-
-
-
-
3GainND
OR2A7p.E179K
p.S92F
Missense
Missense
SNP
SNP
0.435
0.273
3GainND
OR2AG1-
-
-
-
1LossND
OR2AG2-
-
-
-
1LossND
OR2AP1p.E68K
Missense
SNP
0.466
2-ND
OR2AT4-
-
-
-
1LossND
OR2D2p.R122C
Missense
SNP
1.000
1LossND
OR2D3-
-
-
-
1LossND
OR2F1-
-
-
-
3GainND
OR2F2-
-
-
-
3GainND
OR2G2p.S163F
Missense
SNP
0.546
2-ND
OR2G3p.H56Y
Missense
SNP
0.504
2-ND
OR2J3p.G268E
Missense
SNP
0.477
2-ND
OR2K2-
-
-
-
1LossND
OR2M4p.L154F
Missense
SNP
0.460
2-ND
OR2M7p.E111K
p.E4K
Missense
Missense
SNP
SNP
0.444
0.515
2-ND
OR2T12p.R318K
Missense
SNP
0.511
2-ND
OR2T6p.M39I
Missense
SNP
0.503
2-ND
OR2V1-
-
-
-
3GainND
OR2V2-
-
-
-
3GainND
OR2Y1-
-
-
-
3GainND
OR4A15-
-
-
-
1LossND
OR4A16-
-
-
-
1LossND
OR4A47-
-
-
-
1LossND
OR4A5-
-
-
-
1LossND
OR4B1-
-
-
-
1LossND
OR4C11-
-
-
-
1LossND
OR4C12-
-
-
-
1LossND
OR4C13-
-
-
-
1LossND
OR4C15-
-
-
-
1LossND
OR4C16-
-
-
-
1LossND
OR4C3-
-
-
-
1LossND
OR4C46-
-
-
-
1LossND
OR4C5-
-
-
-
1LossND
OR4C6-
-
-
-
1LossND
OR4D1-
-
-
-
4GainND
OR4D10-
-
-
-
1LossND
OR4D11-
-
-
-
1LossND
OR4D2-
-
-
-
4GainND
OR4D5-
-
-
-
1LossND
OR4D6-
-
-
-
1LossND
OR4D9-
-
-
-
1LossND
OR4E1-
-
-
-
3GainND
OR4E2-
-
-
-
3GainND
OR4K1p.R226Q
Missense
SNP
0.656
3GainND
OR4K13-
-
-
-
3GainND
OR4K14-
-
-
-
3GainND
OR4K15-
-
-
-
3GainND
OR4K17-
-
-
-
3GainND
OR4K2-
-
-
-
3GainND
OR4K5-
-
-
-
3GainND
OR4L1-
-
-
-
3GainND
OR4M1p.S93F
Missense
SNP
0.339
3GainND
OR4N2p.L164F
Missense
SNP
0.626
3GainND
OR4N5-
-
-
-
3GainND
OR4P4-
-
-
-
1LossND
OR4Q2-
-
-
-
3GainND
OR4Q3-
-
-
-
3GainND
OR4S1p.S215F
Missense
SNP
1.000
1LossND
OR4S2-
-
-
-
1LossND
OR4X1p.S16F
Missense
SNP
1.000
1LossND
OR4X2-
-
-
-
1LossND
OR51A2-
-
-
-
1LossND
OR51A4-
-
-
-
1LossND
OR51A7-
-
-
-
1LossND
OR51B2-
-
-
-
1LossND
OR51B4-
-
-
-
1LossND
OR51B5p.E49K
Missense
SNP
1.000
1LossND
OR51B6-
-
-
-
1LossND
OR51C1P-
-
-
-
1LossND
OR51D1-
-
-
-
1LossND
OR51E1-
-
-
-
1LossND
OR51E2-
-
-
-
1LossND
OR51F1-
-
-
-
1LossND
OR51F2-
-
-
-
1LossND
OR51G1-
-
-
-
1LossND
OR51G2-
-
-
-
1LossND
OR51I1-
-
-
-
1LossND
OR51I2p.E298K
Missense
SNP
1.000
1LossND
OR51L1-
-
-
-
1LossND
OR51M1-
-
-
-
1LossND
OR51Q1-
-
-
-
1LossND
OR51S1-
-
-
-
1LossND
OR51T1-
-
-
-
1LossND
OR51V1-
-
-
-
1LossND
OR52A1p.P292L
Missense
SNP
1.000
1LossND
OR52A5-
-
-
-
1LossND
OR52B2-
-
-
-
1LossND
OR52B4-
-
-
-
1LossND
OR52B6-
-
-
-
1LossND
OR52D1-
-
-
-
1LossND
OR52E2-
-
-
-
1LossND
OR52E4-
-
-
-
1LossND
OR52E5-
-
-
-
1LossND
OR52E6-
-
-
-
1LossND
OR52E8-
-
-
-
1LossND
OR52H1-
-
-
-
1LossND
OR52I1-
-
-
-
1LossND
OR52I2-
-
-
-
1LossND
OR52J3-
-
-
-
1LossND
OR52K1-
-
-
-
1LossND
OR52K2-
-
-
-
1LossND
OR52L1-
-
-
-
1LossND
OR52M1-
-
-
-
1LossND
OR52N1-
-
-
-
1LossND
OR52N2-
-
-
-
1LossND
OR52N4-
-
-
-
1LossND
OR52N5-
-
-
-
1LossND
OR52R1-
-
-
-
1LossND
OR52W1-
-
-
-
1LossND
OR56A1-
-
-
-
1LossND
OR56A3-
-
-
-
1LossND
OR56A4-
-
-
-
1LossND
OR56A5-
-
-
-
1LossND
OR56B1-
-
-
-
1LossND
OR56B4-
-
-
-
1LossND
OR5A1-
-
-
-
1LossND
OR5A2-
-
-
-
1LossND
OR5AK2-
-
-
-
1LossND
OR5AN1-
-
-
-
1LossND
OR5AP2-
-
-
-
1LossND
OR5AR1-
-
-
-
1LossND
OR5AS1-
-
-
-
1LossND
OR5AU1-
-
-
-
3GainND
OR5B12-
-
-
-
1LossND
OR5B17-
-
-
-
1LossND
OR5B2-
-
-
-
1LossND
OR5B21-
-
-
-
1LossND
OR5B3-
-
-
-
1LossND
OR5C1-
-
-
-
1LossND
OR5D13-
-
-
-
1LossND
OR5D14-
-
-
-
1LossND
OR5D16-
-
-
-
1LossND
OR5D18p.P288S
Missense
SNP
1.000
1LossND
OR5F1-
-
-
-
1LossND
OR5H15p.G161E
Missense
SNP
0.548
2-ND
OR5I1-
-
-
-
1LossND
OR5J2-
-
-
-
1LossND
OR5K4p.S93F
Missense
SNP
0.466
2-ND
OR5L1p.E196K
Missense
SNP
1.000
1LossND
OR5L2p.S217F
Missense
SNP
0.992
1LossND
OR5M1-
-
-
-
1LossND
OR5M10-
-
-
-
1LossND
OR5M11-
-
-
-
1LossND
OR5M3-
-
-
-
1LossND
OR5M8p.L210F
Missense
SNP
1.000
1LossND
OR5M9-
-
-
-
1LossND
OR5P2-
-
-
-
1LossND
OR5P3-
-
-
-
1LossND
OR5R1p.E310D
Missense
SNP
1.000
1LossND
OR5T1-
-
-
-
1LossND
OR5T2-
-
-
-
1LossND
OR5T3-
-
-
-
1LossND
OR5W2-
-
-
-
1LossND
OR6A2-
-
-
-
1LossND
OR6B1p.S156F
Missense
SNP
0.256
3GainND
OR6C2p.P227S
p.G251E
Missense
Missense
SNP
SNP
0.449
0.529
2-ND
OR6C6p.S117F
Missense
SNP
0.423
2-ND
OR6J1-
-
-
-
3GainND
OR6K2p.L129F
Missense
SNP
0.518
2-ND
OR6M1-
-
-
-
1LossND
OR6Q1-
-
-
-
1LossND
OR6S1-
-
-
-
3GainND
OR6T1-
-
-
-
1LossND
OR6V1-
-
-
-
3GainND
OR6X1-
-
-
-
1LossND
OR6Y1p.L255F
Missense
SNP
0.486
2-ND
OR7A17p.E22K
Missense
SNP
1.000
2-ND
OR8A1-
-
-
-
1LossND
OR8B12-
-
-
-
1LossND
OR8B2-
-
-
-
1LossND
OR8B3-
-
-
-
1LossND
OR8B4-
-
-
-
1LossND
OR8B8-
-
-
-
1LossND
OR8D1-
-
-
-
1LossND
OR8D2-
-
-
-
1LossND
OR8D4-
-
-
-
1LossND
OR8G1-
-
-
-
1LossND
OR8G5-
-
-
-
1LossND
OR8H1-
-
-
-
1LossND
OR8H2-
-
-
-
1LossND
OR8H3-
-
-
-
1LossND
OR8I2-
-
-
-
1LossND
OR8J1p.S146F
Missense
SNP
1.000
1LossND
OR8J3-
-
-
-
1LossND
OR8K1-
-
-
-
1LossND
OR8K3-
-
-
-
1LossND
OR8K5-
-
-
-
1LossND
OR8U1-
-
-
-
1LossND
OR9A2-
-
-
-
3GainND
OR9G1-
-
-
-
1LossND
OR9G4-
-
-
-
1LossND
OR9I1-
-
-
-
1LossND
OR9Q1-
-
-
-
1LossND
OR9Q2-
-
-
-
1LossND
ORAI2-
-
-
-
3GainND
ORC3p.P299L
Missense
SNP
0.381
2-ND
ORC5-
-
-
-
3GainND
ORM1-
-
-
-
1LossND
ORM2-
-
-
-
1LossND
ORMDL3-
-
-
-
4GainND
OSBP-
-
-
-
1LossND
OSBP2p.D373N
Missense
SNP
0.363
3GainND
OSBPL3-
-
-
-
3GainND
OSBPL5-
-
-
-
1LossND
OSBPL7-
-
-
-
4GainND
OSGEP-
-
-
-
3GainND
OSM-
-
-
-
3GainND
OSMR-
-
-
-
1LossND
OSTF1-
-
-
-
1LossND
OTOG-
-
-
-
1LossND
OTOGLp.G228E
Missense
SNP
0.454
2-ND
OTOP2-
-
-
-
4GainND
OTOP3-
-
-
-
4GainND
OTP-
-
-
-
1LossND
OTUB1-
-
-
-
1LossND
OTUB2-
-
-
-
3GainND
OTUD1-
-
-
-
3GainND
OTULIN-
-
-
-
1LossND
OTULINL-
-
-
-
1LossND
OTX2-
-
-
-
3GainND
OVCH1p.R520C
Missense
SNP
0.542
2-ND
OVCH2-
-
-
-
1LossND
OVOL1-
-
-
-
1LossND
OXA1L-
-
-
-
3GainND
OXCT1-
-
-
-
1LossND
OXLD1-
-
-
-
4GainND
P2RX3-
-
-
-
1LossND
P2RX6-
-
-
-
3GainND
P2RY2-
-
-
-
1LossND
P2RY6-
-
-
-
1LossND
P3H4-
-
-
-
4GainND
P4HA1-
-
-
-
3GainND
P4HA2-
-
-
-
3GainND
P4HA3-
-
-
-
1LossND
P4HB-
-
-
-
4GainND
PAAF1-
-
-
-
1LossND
PABPC4L-
-
-
-
3GainND
PABPN1-
-
-
-
3GainND
PACRGp.P122S
Missense
SNP
0.505
2-ND
PACS1-
-
-
-
1LossND
PACS2-
-
-
-
3GainND
PACSIN2-
-
-
-
3GainND
PACSIN3-
-
-
-
1LossND
PAEP-
-
-
-
1LossND
PAFAH1B2-
-
-
-
1LossND
PAHp.R297C
Missense
SNP
0.535
2-ND
PAIP1-
-
-
-
1LossND
PAIP2-
-
-
-
3GainND
PAK1-
-
-
-
1LossND
PALD1-
-
-
-
3GainND
PALM2-
-
-
-
1LossND
PALM2-AKAP2-
-
-
-
1LossND
PALMDp.E428K
Missense
SNP
0.477
2-ND
PAM-
-
-
-
1LossND
PAMR1-
-
-
-
1LossND
PANK1-
-
-
-
1LossND
PANK3-
-
-
-
3GainND
PANX1-
-
-
-
1LossND
PANX2-
-
-
-
3GainND
PANX3-
-
-
-
1LossND
PAOX-
-
-
-
1LossND
PAPD4p.R289K
Missense
SNP
1.000
NDNDND
PAPLN-
-
-
-
3GainND
PAPOLA-
-
-
-
3GainND
PAPPA-
-
-
-
1LossND
PAPPA2p.R57*
p.D1058N
p.E1242K
Nonsense
Missense
Missense
SNP
SNP
SNP
0.425
0.483
0.531
2-ND
PAPSS2-
-
-
-
1LossND
PARD3-
-
-
-
3GainND
PARD6G-
-
-
-
1LossND
PARG-
-
-
-
3GainND
PARP1-
-
-
-
1LossND
PARP11p.Q259*
Nonsense
SNP
0.502
2-ND
PARP2-
-
-
-
3GainND
PARP4p.H650Y
Missense
SNP
0.295
2-ND
PARP8-
-
-
-
1LossND
PARVA-
-
-
-
1LossND
PARVB-
-
-
-
3GainND
PARVG-
-
-
-
3GainND
PATE1-
-
-
-
1LossND
PATE2-
-
-
-
1LossND
PATE3-
-
-
-
1LossND
PATE4-
-
-
-
1LossND
PATL1-
-
-
-
1LossND
PATZ1-
-
-
-
3GainND
PAX2-
-
-
-
1LossND
PAX4-
-
-
-
3GainND
PAX6-
-
-
-
1LossND
PAX9-
-
-
-
3GainND
PAXIP1-
-
-
-
3GainND
PAXX-
-
-
-
1LossND
PBLD-
-
-
-
3GainND
PBX3-
-
-
-
1LossND
PC-
-
-
-
1LossND
PCBD1-
-
-
-
3GainND
PCBD2-
-
-
-
3GainND
PCDH1-
-
-
-
3GainND
PCDH10-
-
-
-
3GainND
PCDH11Xp.Q468*
Nonsense
SNP
0.993
NDNDND
PCDH12-
-
-
-
3GainND
PCDH15p.E1492K
p.E1044K
p.R769C
Missense
Missense
Missense
SNP
SNP
SNP
0.337
0.340
0.613
3GainND
PCDH18p.S170F
Missense
SNP
0.513
3GainND
PCDH7-
-
-
-
3GainND
PCDHA1p.S280F
p.E317K
Missense
Missense
SNP
SNP
0.637
0.651
3GainND
PCDHA10p.S3F
Missense
SNP
0.304
3GainND
PCDHA11-
-
-
-
3GainND
PCDHA12-
-
-
-
3GainND
PCDHA13p.G300R
Missense
SNP
0.280
3GainND
PCDHA2p.E120K
p.S337L
p.R644Q
Missense
Missense
Missense
SNP
SNP
SNP
0.293
0.362
0.346
3GainND
PCDHA3p.E253K
Missense
SNP
0.657
3GainND
PCDHA4p.E181K
Missense
SNP
0.669
3GainND
PCDHA5p.E175K
Missense
SNP
0.667
3GainND
PCDHA6p.G430E
Missense
SNP
0.323
3GainND
PCDHA7p.P777S
Missense
SNP
0.683
3GainND
PCDHA8-
-
-
-
3GainND
PCDHA9-
-
-
-
3GainND
PCDHAC1-
-
-
-
3GainND
PCDHAC2-
-
-
-
3GainND
PCDHB1p.R304K
Missense
SNP
0.591
3GainND
PCDHB10p.D159N
Missense
SNP
0.322
3GainND
PCDHB11p.D70N
Missense
SNP
0.648
3GainND
PCDHB12-
-
-
-
3GainND
PCDHB13-
-
-
-
3GainND
PCDHB14-
-
-
-
3GainND
PCDHB15-
-
-
-
3GainND
PCDHB16p.R222Q
Missense
SNP
0.677
3GainND
PCDHB2-
-
-
-
3GainND
PCDHB3-
-
-
-
3GainND
PCDHB4p.E119K
Missense
SNP
0.345
3GainND
PCDHB5p.P771S
Missense
SNP
0.326
3GainND
PCDHB6-
-
-
-
3GainND
PCDHB7-
-
-
-
3GainND
PCDHB8p.S700L
Missense
SNP
0.257
3GainND
PCDHB9-
-
-
-
3GainND
PCDHGA1-
-
-
-
3GainND
PCDHGA10-
-
-
-
3GainND
PCDHGA11-
-
-
-
3GainND
PCDHGA12-
-
-
-
3GainND
PCDHGA2p.H208Y
p.S416F
Missense
Missense
SNP
SNP
0.615
0.369
3GainND
PCDHGA3-
-
-
-
3GainND
PCDHGA4-
-
-
-
3GainND
PCDHGA5-
-
-
-
3GainND
PCDHGA6-
-
-
-
3GainND
PCDHGA7-
-
-
-
3GainND
PCDHGA8p.E111K
Missense
SNP
0.632
3GainND
PCDHGA9-
-
-
-
3GainND
PCDHGB1p.D517N
Missense
SNP
0.628
3GainND
PCDHGB2-
-
-
-
3GainND
PCDHGB3-
-
-
-
3GainND
PCDHGB4p.S137F
Missense
SNP
0.332
3GainND
PCDHGB5-
-
-
-
3GainND
PCDHGB6-
-
-
-
3GainND
PCDHGB7-
-
-
-
3GainND
PCDHGC3-
-
-
-
3GainND
PCDHGC4-
-
-
-
3GainND
PCDHGC5-
-
-
-
3GainND
PCED1Bp.E171K
Missense
SNP
0.424
2-ND
PCF11-
-
-
-
1LossND
PCGF2-
-
-
-
4GainND
PCGF5-
-
-
-
1LossND
PCGF6-
-
-
-
1LossND
PCK1p.D84N
Missense
SNP
0.473
2-ND
PCK2-
-
-
-
3GainND
PCLOp.E4400K
p.S4204L
p.E4112K
Missense
Missense
Missense
SNP
SNP
SNP
0.291
0.687
0.747
3GainND
PCNX1p.R1728C
Missense
SNP
0.634
3GainND
PCNX2p.S681F
p.E230K
Missense
Missense
SNP
SNP
1.000
1.000
1LossND
PCNX3-
-
-
-
1LossND
PCNX4-
-
-
-
3GainND
PCOLCE-
-
-
-
3GainND
PCSK1p.S643F
Missense
SNP
1.000
1LossND
PCSK5-
-
-
-
1LossND
PCSK7-
-
-
-
1LossND
PCSK9p.E195K
Missense
SNP
0.474
2-ND
PCTP-
-
-
-
4GainND
PCYOX1L-
-
-
-
3GainND
PCYT2-
-
-
-
4GainND
PDCp.G120E
Missense
SNP
0.472
2-ND
PDCD11-
-
-
-
1LossND
PDCD1LG2-
-
-
-
1LossND
PDCD4-
-
-
-
1LossND
PDCD6-
-
-
-
1LossND
PDCL-
-
-
-
1LossND
PDE1Cp.X311_splice
Splice_Site
SNP
0.748
3GainND
PDE2A-
-
-
-
1LossND
PDE3B-
-
-
-
1LossND
PDE4Cp.P110S
Missense
SNP
1.000
2-ND
PDE4D-
-
-
-
1LossND
PDE4DIPp.E1284K
Missense
SNP
0.272
2-ND
PDE6A-
-
-
-
3GainND
PDE6Bp.E310K
Missense
SNP
0.535
2-ND
PDE6C-
-
-
-
1LossND
PDE6G-
-
-
-
4GainND
PDE7Bp.E289K
Missense
SNP
0.508
2-ND
PDE8B-
-
-
-
1LossND
PDGFA-
-
-
-
3GainND
PDGFB-
-
-
-
3GainND
PDGFD-
-
-
-
1LossND
PDGFRB-
-
-
-
3GainND
PDHX-
-
-
-
1LossND
PDIA4-
-
-
-
3GainND
PDK2-
-
-
-
5AmpND
PDLIM1-
-
-
-
1LossND
PDLIM4-
-
-
-
3GainND
PDLIM7-
-
-
-
3GainND
PDSS1-
-
-
-
3GainND
PDXP-
-
-
-
3GainND
PDZD2-
-
-
-
1LossND
PDZD3-
-
-
-
1LossND
PDZD7-
-
-
-
1LossND
PDZD8-
-
-
-
1LossND
PECAM1-
-
-
-
4GainND
PELI2p.P336L
Missense
SNP
0.638
3GainND
PELI3-
-
-
-
1LossND
PELO-
-
-
-
1LossND
PENKp.E180K
Missense
SNP
0.485
2-ND
PES1-
-
-
-
3GainND
PEX12-
-
-
-
3GainND
PEX16-
-
-
-
1LossND
PEX26-
-
-
-
3GainND
PEX6p.S919F
Missense
SNP
0.526
2-ND
PFDN1-
-
-
-
3GainND
PFKFB3-
-
-
-
3GainND
PFKP-
-
-
-
3GainND
PFN3-
-
-
-
3GainND
PGA3-
-
-
-
1LossND
PGA4-
-
-
-
1LossND
PGA5-
-
-
-
1LossND
PGAM1-
-
-
-
1LossND
PGAM2-
-
-
-
3GainND
PGAP2-
-
-
-
1LossND
PGAP3-
-
-
-
4GainND
PGF-
-
-
-
3GainND
PGGHG-
-
-
-
1LossND
PGGT1B-
-
-
-
3GainND
PGM2L1-
-
-
-
1LossND
PGM5-
-
-
-
1LossND
PGR-
-
-
-
1LossND
PGS1-
-
-
-
4GainND
PHAX-
-
-
-
3GainND
PHBp.Q62P
Missense
SNP
0.483
4GainND
PHETA2-
-
-
-
3GainND
PHF12-
-
-
-
4GainND
PHF14-
-
-
-
3GainND
PHF19-
-
-
-
1LossND
PHF2-
-
-
-
1LossND
PHF20L1p.R8C
Missense
SNP
0.402
2-ND
PHF21A-
-
-
-
1LossND
PHF21B-
-
-
-
3GainND
PHF5A-
-
-
-
3GainND
PHKBp.P691S
Missense
SNP
0.505
2-ND
PHLDA2-
-
-
-
1LossND
PHLDB1-
-
-
-
1LossND
PHLPP1-
-
-
-
1LossND
PHOSPHO1-
-
-
-
4GainND
PHOX2A-
-
-
-
1LossND
PHPT1-
-
-
-
1LossND
PHRF1-
-
-
-
1LossND
PHTF2-
-
-
-
3GainND
PHYH-
-
-
-
3GainND
PHYHD1-
-
-
-
1LossND
PHYHIPL-
-
-
-
3GainND
PHYKPL-
-
-
-
3GainND
PI4K2A-
-
-
-
1LossND
PI4KA-
-
-
-
3GainND
PI4KBp.Q821*
Nonsense
SNP
0.482
2-ND
PIBF1p.R682C
Missense
SNP
0.549
2-ND
PICALM-
-
-
-
1LossND
PICK1-
-
-
-
3GainND
PIDD1-
-
-
-
1LossND
PIEZO2p.E2490K
Missense
SNP
0.533
2-ND
PIGH-
-
-
-
3GainND
PIGN-
-
-
-
1LossND
PIGS-
-
-
-
4GainND
PIGW-
-
-
-
3GainND
PIH1D2-
-
-
-
1LossND
PIK3AP1-
-
-
-
1LossND
PIK3C2A-
-
-
-
1LossND
PIK3CG-
-
-
-
3GainND
PIK3IP1-
-
-
-
3GainND
PIK3R1-
-
-
-
1LossND
PILRA-
-
-
-
3GainND
PILRB-
-
-
-
3GainND
PIM3-
-
-
-
3GainND
PIP-
-
-
-
3GainND
PIP4K2A-
-
-
-
3GainND
PIP4K2B-
-
-
-
4GainND
PIP4P1-
-
-
-
3GainND
PIP5K1B-
-
-
-
1LossND
PIP5KL1-
-
-
-
1LossND
PIPOX-
-
-
-
4GainND
PISD-
-
-
-
3GainND
PITPNB-
-
-
-
3GainND
PITPNC1-
-
-
-
4GainND
PITPNM1p.R1068W
Missense
SNP
1.000
1LossND
PITRM1-
-
-
-
3GainND
PITX1-
-
-
-
3GainND
PITX3-
-
-
-
1LossND
PIWIL1p.D578N
Missense
SNP
0.447
2-ND
PIWIL3-
-
-
-
3GainND
PIWIL4-
-
-
-
1LossND
PJA2-
-
-
-
3GainND
PKD1L1p.T1210I
p.S836F
Missense
Missense
SNP
SNP
0.755
0.714
2-ND
PKD2L1-
-
-
-
1LossND
PKD2L2-
-
-
-
3GainND
PKDREJ-
-
-
-
3GainND
PKHD1p.G1321E
p.H474Y
Missense
Missense
SNP
SNP
0.588
0.507
2-ND
PKHD1L1p.S1184L
Missense
SNP
0.481
2-ND
PKN3-
-
-
-
1LossND
PKNOX2-
-
-
-
1LossND
PKP3-
-
-
-
1LossND
PLA2G12B-
-
-
-
3GainND
PLA2G16-
-
-
-
1LossND
PLA2G3-
-
-
-
3GainND
PLA2G6-
-
-
-
3GainND
PLAA-
-
-
-
1LossND
PLAC8L1-
-
-
-
3GainND
PLAC9-
-
-
-
1LossND
PLAU-
-
-
-
3GainND
PLB1p.M1189I
Missense
SNP
0.496
2-ND
PLCB1p.G638E
Missense
SNP
0.514
2-ND
PLCB3-
-
-
-
1LossND
PLCD3-
-
-
-
4GainND
PLCE1p.R321Q
p.R1969Q
Missense
Missense
SNP
SNP
1.000
1.000
1LossND
PLCH1p.E458K
p.H82Y
p.E79K
Missense
Missense
Missense
SNP
SNP
SNP
0.416
0.495
0.519
2-ND
PLCL2p.E586K
Missense
SNP
0.488
2-ND
PLCXD3-
-
-
-
1LossND
PLD4-
-
-
-
3GainND
PLEKp.E34K
Missense
SNP
0.483
2-ND
PLEK2-
-
-
-
3GainND
PLEKHA1-
-
-
-
1LossND
PLEKHA7-
-
-
-
1LossND
PLEKHA8-
-
-
-
3GainND
PLEKHB1-
-
-
-
1LossND
PLEKHD1-
-
-
-
3GainND
PLEKHG1p.P544S
Missense
SNP
0.474
2-ND
PLEKHG3-
-
-
-
3GainND
PLEKHG4Bp.E523K
Missense
SNP
1.000
1LossND
PLEKHH1-
-
-
-
3GainND
PLEKHH3-
-
-
-
4GainND
PLEKHM1-
-
-
-
4GainND
PLEKHS1-
-
-
-
1LossND
PLET1-
-
-
-
1LossND
PLGp.E58Q
Missense
SNP
0.534
2-ND
PLGRKT-
-
-
-
1LossND
PLIN2-
-
-
-
1LossND
PLK2p.P249S
Missense
SNP
1.000
1LossND
PLOD3-
-
-
-
3GainND
PLPP1-
-
-
-
1LossND
PLPP4-
-
-
-
1LossND
PLPP6-
-
-
-
1LossND
PLPP7-
-
-
-
1LossND
PLPPR1-
-
-
-
1LossND
PLTPp.Q147L
Missense
SNP
0.424
2-ND
PLXDC1-
-
-
-
4GainND
PLXDC2-
-
-
-
3GainND
PLXNA4p.S945F
p.H491Y
p.P423S
Missense
Missense
Missense
SNP
SNP
SNP
0.294
0.740
0.783
3GainND
PLXNB2p.S629F
Missense
SNP
0.291
3GainND
PMAIP1-
-
-
-
1LossND
PMEPA1p.G155E
Missense
SNP
0.439
2-ND
PMM1-
-
-
-
3GainND
PMPCA-
-
-
-
1LossND
PMPCB-
-
-
-
3GainND
PMS2-
-
-
-
3GainND
PNLIP-
-
-
-
1LossND
PNLIPRP1-
-
-
-
1LossND
PNLIPRP2-
-
-
-
1LossND
PNLIPRP3p.E203K
Missense
SNP
1.000
1LossND
PNMA1-
-
-
-
3GainND
PNMT-
-
-
-
4GainND
PNN-
-
-
-
3GainND
PNP-
-
-
-
3GainND
PNPLA2-
-
-
-
1LossND
PNPLA3-
-
-
-
3GainND
PNPLA5-
-
-
-
3GainND
PNPLA7-
-
-
-
1LossND
PNPLA8-
-
-
-
3GainND
PNPO-
-
-
-
4GainND
POC5-
-
-
-
1LossND
PODNp.E330K
Missense
SNP
0.464
2-ND
PODXLp.E437K
Missense
SNP
0.699
3GainND
POLA2-
-
-
-
1LossND
POLD2-
-
-
-
3GainND
POLD3-
-
-
-
1LossND
POLD4-
-
-
-
1LossND
POLDIP2-
-
-
-
4GainND
POLDIP3-
-
-
-
3GainND
POLE2-
-
-
-
3GainND
POLE3-
-
-
-
1LossND
POLG2-
-
-
-
4GainND
POLI-
-
-
-
1LossND
POLK-
-
-
-
1LossND
POLL-
-
-
-
1LossND
POLM-
-
-
-
3GainND
POLQp.H1714Y
Missense
SNP
0.578
2-ND
POLR2F-
-
-
-
3GainND
POLR2G-
-
-
-
1LossND
POLR2J-
-
-
-
3GainND
POLR2J2-
-
-
-
3GainND
POLR2J3-
-
-
-
3GainND
POLR2L-
-
-
-
1LossND
POLR3A-
-
-
-
1LossND
POLR3G-
-
-
-
1LossND
POLR3H-
-
-
-
3GainND
POM121C-
-
-
-
3GainND
POMT1-
-
-
-
1LossND
POMT2-
-
-
-
3GainND
POMZP3-
-
-
-
3GainND
POP7-
-
-
-
3GainND
POR-
-
-
-
3GainND
POT1-
-
-
-
3GainND
POU2AF1-
-
-
-
1LossND
POU2F3-
-
-
-
1LossND
POU4F3-
-
-
-
3GainND
POU5F2-
-
-
-
1LossND
POU6F2-
-
-
-
3GainND
PP2D1p.R35K
Missense
SNP
0.475
2-ND
PPA1-
-
-
-
3GainND
PPARA-
-
-
-
3GainND
PPARGC1Ap.S337F
Missense
SNP
0.393
2-ND
PPARGC1Bp.P385S
Missense
SNP
0.636
3GainND
PPBPp.P9S
Missense
SNP
0.386
2-ND
PPFIA1-
-
-
-
1LossND
PPFIA2p.G1208R
Missense
SNP
0.384
2-ND
PPFIBP2p.P860L
Missense
SNP
1.000
1LossND
PPIA-
-
-
-
3GainND
PPIC-
-
-
-
3GainND
PPIF-
-
-
-
1LossND
PPIL2-
-
-
-
3GainND
PPIP5K2-
-
-
-
1LossND
PPM1A-
-
-
-
3GainND
PPM1D-
-
-
-
4GainND
PPM1E-
-
-
-
4GainND
PPM1F-
-
-
-
3GainND
PPME1-
-
-
-
1LossND
PPP1CA-
-
-
-
1LossND
PPP1R13Bp.R194C
Missense
SNP
0.603
3GainND
PPP1R14B-
-
-
-
1LossND
PPP1R17-
-
-
-
3GainND
PPP1R1B-
-
-
-
4GainND
PPP1R26-
-
-
-
1LossND
PPP1R27-
-
-
-
4GainND
PPP1R2B-
-
-
-
3GainND
PPP1R2P3p.S162L
Missense
SNP
0.378
NDNDND
PPP1R32-
-
-
-
1LossND
PPP1R35-
-
-
-
3GainND
PPP1R36-
-
-
-
3GainND
PPP1R3A-
-
-
-
3GainND
PPP1R3C-
-
-
-
1LossND
PPP1R3E-
-
-
-
3GainND
PPP1R9B-
-
-
-
5AmpND
PPP2CA-
-
-
-
3GainND
PPP2R1B-
-
-
-
1LossND
PPP2R2B-
-
-
-
3GainND
PPP2R2D-
-
-
-
1LossND
PPP2R3C-
-
-
-
3GainND
PPP2R5B-
-
-
-
1LossND
PPP2R5C-
-
-
-
3GainND
PPP2R5E-
-
-
-
3GainND
PPP3CB-
-
-
-
3GainND
PPP3R2-
-
-
-
1LossND
PPP4R3A-
-
-
-
3GainND
PPP4R4p.P86S
Missense
SNP
0.600
3GainND
PPP6C-
-
-
-
1LossND
PPP6R2-
-
-
-
3GainND
PPP6R3-
-
-
-
1LossND
PPRC1-
-
-
-
1LossND
PPWD1-
-
-
-
1LossND
PPY-
-
-
-
4GainND
PQLC1-
-
-
-
1LossND
PRAC1-
-
-
-
4GainND
PRAC2-
-
-
-
4GainND
PRAME-
-
-
-
3GainND
PRAMEF20p.R94C
Missense
SNP
0.572
2-ND
PRAP1-
-
-
-
1LossND
PRB3p.R95C
Missense
SNP
0.345
2-ND
PRCD-
-
-
-
4GainND
PRCP-
-
-
-
1LossND
PRDM10-
-
-
-
1LossND
PRDM11-
-
-
-
1LossND
PRDM12-
-
-
-
1LossND
PRDM6-
-
-
-
3GainND
PRDM9p.G257R
Missense
SNP
1.000
1LossND
PRDX3-
-
-
-
1LossND
PRDX5-
-
-
-
1LossND
PREBp.T347M
Missense
SNP
0.511
2-ND
PRELID1-
-
-
-
3GainND
PRELID2-
-
-
-
3GainND
PREX2p.R1149C
Missense
SNP
0.468
2-ND
PRF1-
-
-
-
3GainND
PRG2-
-
-
-
1LossND
PRG3-
-
-
-
1LossND
PRIMA1-
-
-
-
3GainND
PRKAA1-
-
-
-
1LossND
PRKACG-
-
-
-
1LossND
PRKAG2-
-
-
-
3GainND
PRKAR1A-
-
-
-
3GainND
PRKAR1B-
-
-
-
3GainND
PRKAR2B-
-
-
-
3GainND
PRKCA-
-
-
-
4GainND
PRKCBp.E656K
Missense
SNP
0.451
2-ND
PRKCH-
-
-
-
3GainND
PRKCQ-
-
-
-
3GainND
PRKD1-
-
-
-
3GainND
PRKG1-
-
-
-
3GainND
PRKG2p.E413K
Missense
SNP
0.534
2-ND
PRKRIP1-
-
-
-
3GainND
PRLHR-
-
-
-
1LossND
PRLRp.R171*
Nonsense
SNP
0.996
1LossND
PRMT3-
-
-
-
1LossND
PRMT5-
-
-
-
3GainND
PROB1-
-
-
-
3GainND
PROCA1-
-
-
-
4GainND
PRODH-
-
-
-
3GainND
PROP1-
-
-
-
3GainND
PROS1p.R316C
Missense
SNP
0.500
2-ND
PROSER2-
-
-
-
3GainND
PROX2-
-
-
-
3GainND
PRPF18-
-
-
-
3GainND
PRPF19-
-
-
-
1LossND
PRPF39-
-
-
-
3GainND
PRPF4-
-
-
-
1LossND
PRPS1L1-
-
-
-
3GainND
PRPSAP1-
-
-
-
4GainND
PRR11-
-
-
-
4GainND
PRR14L-
-
-
-
3GainND
PRR15-
-
-
-
3GainND
PRR15L-
-
-
-
4GainND
PRR16-
-
-
-
3GainND
PRR26-
-
-
-
3GainND
PRR29-
-
-
-
4GainND
PRR33-
-
-
-
1LossND
PRR5-
-
-
-
3GainND
PRR5-ARHGAP8-
-
-
-
3GainND
PRR5L-
-
-
-
1LossND
PRR7-
-
-
-
3GainND
PRRC1-
-
-
-
3GainND
PRRC2Ap.H226Y
Missense
SNP
0.438
2-ND
PRRC2B-
-
-
-
1LossND
PRRG4-
-
-
-
1LossND
PRRT1B-
-
-
-
1LossND
PRRT4-
-
-
-
3GainND
PRRX2-
-
-
-
1LossND
PRSS1-
-
-
-
3GainND
PRSS2-
-
-
-
3GainND
PRSS23-
-
-
-
1LossND
PRSS3-
-
-
-
1LossND
PRSS37p.V86I
Missense
SNP
0.267
2-ND
PRSS38-
-
-
-
1LossND
PRSS58-
-
-
-
3GainND
PRTFDC1-
-
-
-
3GainND
PRUNE2p.G783E
Missense
SNP
1.000
1LossND
PRXL2A-
-
-
-
1LossND
PRXL2C-
-
-
-
1LossND
PSAP-
-
-
-
3GainND
PSAT1-
-
-
-
1LossND
PSD-
-
-
-
1LossND
PSD2-
-
-
-
3GainND
PSEN1-
-
-
-
3GainND
PSEN2-
-
-
-
1LossND
PSG1-
-
-
-
0DelND
PSG11-
-
-
-
0DelND
PSG6-
-
-
-
0DelND
PSG7-
-
-
-
0DelND
PSIP1-
-
-
-
1LossND
PSKH2p.M137I
Missense
SNP
0.483
2-ND
PSMA1-
-
-
-
1LossND
PSMA2-
-
-
-
3GainND
PSMA3-
-
-
-
3GainND
PSMA6-
-
-
-
3GainND
PSMB11-
-
-
-
3GainND
PSMB3-
-
-
-
4GainND
PSMB5-
-
-
-
3GainND
PSMB7-
-
-
-
1LossND
PSMC1-
-
-
-
3GainND
PSMC2-
-
-
-
3GainND
PSMC3-
-
-
-
1LossND
PSMC3IP-
-
-
-
4GainND
PSMC5-
-
-
-
4GainND
PSMC6-
-
-
-
3GainND
PSMD11-
-
-
-
3GainND
PSMD12-
-
-
-
4GainND
PSMD13-
-
-
-
1LossND
PSMD3-
-
-
-
4GainND
PSMD5-
-
-
-
1LossND
PSME1-
-
-
-
3GainND
PSME2-
-
-
-
3GainND
PSME3-
-
-
-
4GainND
PSMG3-
-
-
-
3GainND
PSTK-
-
-
-
1LossND
PTAR1-
-
-
-
1LossND
PTBP3-
-
-
-
1LossND
PTCD2-
-
-
-
1LossND
PTCH1-
-
-
-
1LossND
PTCHD3p.L450F
Missense
SNP
0.254
3GainND
PTDSS2-
-
-
-
1LossND
PTEN-
-
-
-
1LossND
PTER-
-
-
-
3GainND
PTF1A-
-
-
-
3GainND
PTGDR-
-
-
-
3GainND
PTGDR2-
-
-
-
1LossND
PTGDS-
-
-
-
1LossND
PTGER2-
-
-
-
3GainND
PTGER4-
-
-
-
1LossND
PTGES-
-
-
-
1LossND
PTGES2-
-
-
-
1LossND
PTGES3L-
-
-
-
4GainND
PTGES3L-AARSD1-
-
-
-
4GainND
PTGISp.E265K
Missense
SNP
0.484
2-ND
PTGR1-
-
-
-
1LossND
PTGR2-
-
-
-
3GainND
PTGS1-
-
-
-
1LossND
PTH-
-
-
-
1LossND
PTPA-
-
-
-
1LossND
PTPDC1-
-
-
-
1LossND
PTPMT1-
-
-
-
1LossND
PTPN12-
-
-
-
3GainND
PTPN20-
-
-
-
3GainND
PTPN21-
-
-
-
3GainND
PTPN22p.P563S
Missense
SNP
0.404
2-ND
PTPN3-
-
-
-
1LossND
PTPN5-
-
-
-
1LossND
PTPN6p.R407W
Missense
SNP
0.461
2-ND
PTPRAp.P63L
Missense
SNP
0.446
2-ND
PTPRBp.D1958N
p.E1812K
p.S439F
Missense
Missense
Missense
SNP
SNP
SNP
0.540
0.397
0.400
2-ND
PTPRCAP-
-
-
-
1LossND
PTPRD-
-
-
-
1LossND
PTPRE-
-
-
-
1LossND
PTPRJ-
-
-
-
1LossND
PTPRN2p.E748K
p.S290L
Missense
Missense
SNP
SNP
0.236
0.321
2-ND
PTPRQp.G1322E
Missense
SNP
0.401
2-ND
PTPRTp.G812R
p.E511K
Missense
Missense
SNP
SNP
0.522
0.425
2-ND
PTPRZ1p.H2006Y
Missense
SNP
0.748
3GainND
PTRH1-
-
-
-
1LossND
PTRH2-
-
-
-
4GainND
PTS-
-
-
-
1LossND
PTTG1p.G79R
Missense
SNP
0.314
3GainND
PUM3-
-
-
-
1LossND
PURA-
-
-
-
3GainND
PURB-
-
-
-
3GainND
PUS3-
-
-
-
1LossND
PUS7-
-
-
-
3GainND
PVALB-
-
-
-
3GainND
PVALEF-
-
-
-
4GainND
PVRIG-
-
-
-
3GainND
PWWP2A-
-
-
-
3GainND
PXDNp.P1105L
Missense
SNP
0.496
2-ND
PYCR1-
-
-
-
4GainND
PYCR2-
-
-
-
1LossND
PYGL-
-
-
-
3GainND
PYGM-
-
-
-
1LossND
PYHIN1p.P294S
Missense
SNP
0.433
2-ND
PYROXD2-
-
-
-
1LossND
PYY-
-
-
-
4GainND
QRFP-
-
-
-
1LossND
QRICH2-
-
-
-
4GainND
QSER1-
-
-
-
1LossND
QSOX2-
-
-
-
1LossND
R3HCC1L-
-
-
-
1LossND
RAB11FIP2-
-
-
-
1LossND
RAB11FIP4-
-
-
-
4GainND
RAB14-
-
-
-
1LossND
RAB15-
-
-
-
3GainND
RAB18-
-
-
-
3GainND
RAB1B-
-
-
-
1LossND
RAB24-
-
-
-
3GainND
RAB27B-
-
-
-
1LossND
RAB2B-
-
-
-
3GainND
RAB30-
-
-
-
1LossND
RAB34-
-
-
-
4GainND
RAB36-
-
-
-
3GainND
RAB37-
-
-
-
4GainND
RAB38-
-
-
-
1LossND
RAB39A-
-
-
-
1LossND
RAB3C-
-
-
-
1LossND
RAB3IL1-
-
-
-
1LossND
RAB3IPp.P83L
Missense
SNP
0.467
2-ND
RAB40B-
-
-
-
4GainND
RAB5C-
-
-
-
4GainND
RAB6A-
-
-
-
1LossND
RAB8Bp.R203C
Missense
SNP
0.602
2-ND
RABEPK-
-
-
-
1LossND
RABGAP1-
-
-
-
1LossND
RABGEF1p.P343L
Missense
DNP
0.272
3GainND
RABGGTA-
-
-
-
3GainND
RABL2B-
-
-
-
3GainND
RABL6-
-
-
-
1LossND
RAC1-
-
-
-
3GainND
RAC2-
-
-
-
3GainND
RAC3-
-
-
-
4GainND
RACK1-
-
-
-
3GainND
RAD1-
-
-
-
1LossND
RAD17-
-
-
-
1LossND
RAD23B-
-
-
-
1LossND
RAD50-
-
-
-
3GainND
RAD51AP2p.S324F
p.D313N
Missense
Missense
SNP
SNP
0.380
0.656
2-ND
RAD51B-
-
-
-
3GainND
RAD51C-
-
-
-
4GainND
RAD51D-
-
-
-
3GainND
RAD51L3-RFFL-
-
-
-
3GainND
RAD9A-
-
-
-
1LossND
RAG1-
-
-
-
1LossND
RAG2-
-
-
-
1LossND
RAI1p.E1130*
Nonsense
SNP
1.000
NDNDND
RAI14-
-
-
-
1LossND
RALA-
-
-
-
3GainND
RALGAPA1-
-
-
-
3GainND
RALGDS-
-
-
-
1LossND
RALGPS1p.R165*
Nonsense
SNP
1.000
1LossND
RAMP2-
-
-
-
4GainND
RANBP1-
-
-
-
3GainND
RANBP17-
-
-
-
3GainND
RANBP3L-
-
-
-
1LossND
RANBP6-
-
-
-
1LossND
RANGAP1-
-
-
-
3GainND
RAPGEF1-
-
-
-
1LossND
RAPGEF5-
-
-
-
3GainND
RAPGEF6-
-
-
-
3GainND
RAPGEFL1-
-
-
-
4GainND
RAPSN-
-
-
-
1LossND
RARA-
-
-
-
4GainND
RARBp.P74L
Missense
SNP
0.470
2-ND
RARRES2-
-
-
-
3GainND
RARRES3-
-
-
-
1LossND
RARS-
-
-
-
3GainND
RASA1-
-
-
-
1LossND
RASA3p.S562L
Missense
SNP
0.364
2-ND
RASA4-
-
-
-
3GainND
RASA4B-
-
-
-
3GainND
RASAL1p.D753N
Missense
SNP
0.425
2-ND
RASD2-
-
-
-
3GainND
RASEF-
-
-
-
1LossND
RASGEF1A-
-
-
-
3GainND
RASGEF1Bp.E116K
Missense
SNP
0.487
2-ND
RASGEF1C-
-
-
-
3GainND
RASGRF1p.E991K
Missense
SNP
0.406
2-ND
RASGRF2-
-
-
-
1LossND
RASGRP2-
-
-
-
1LossND
RASL10A-
-
-
-
3GainND
RASL10B-
-
-
-
3GainND
RASSF10-
-
-
-
1LossND
RASSF2p.R150C
Missense
SNP
0.485
2-ND
RASSF4-
-
-
-
3GainND
RASSF7-
-
-
-
1LossND
RASSF9p.E363K
Missense
SNP
0.416
2-ND
RAX-
-
-
-
1LossND
RBFA-
-
-
-
1LossND
RBFOX2-
-
-
-
3GainND
RBFOX3-
-
-
-
4GainND
RBL1p.R159Q
Missense
SNP
0.350
2-ND
RBM14-
-
-
-
1LossND
RBM14-RBM4-
-
-
-
1LossND
RBM17-
-
-
-
3GainND
RBM18-
-
-
-
1LossND
RBM20-
-
-
-
1LossND
RBM22-
-
-
-
3GainND
RBM23-
-
-
-
3GainND
RBM25-
-
-
-
3GainND
RBM27-
-
-
-
3GainND
RBM28-
-
-
-
3GainND
RBM33-
-
-
-
3GainND
RBM38p.P174L
Missense
SNP
0.461
2-ND
RBM4-
-
-
-
1LossND
RBM46p.R184C
Missense
SNP
0.438
2-ND
RBM4B-
-
-
-
1LossND
RBM7-
-
-
-
1LossND
RBMXL2-
-
-
-
1LossND
RBP3-
-
-
-
3GainND
RBP4-
-
-
-
1LossND
RBX1-
-
-
-
3GainND
RC3H2-
-
-
-
1LossND
RCC1L-
-
-
-
3GainND
RCE1-
-
-
-
1LossND
RCL1-
-
-
-
1LossND
RCN1-
-
-
-
1LossND
RCOR1-
-
-
-
3GainND
RCOR2-
-
-
-
1LossND
RCSD1p.E341K
Missense
SNP
0.507
2-ND
RD3L-
-
-
-
3GainND
RDH11-
-
-
-
3GainND
RDH12p.D187N
Missense
SNP
0.590
3GainND
RDM1-
-
-
-
3GainND
RDX-
-
-
-
1LossND
REC8-
-
-
-
3GainND
RECQL5-
-
-
-
4GainND
REEP2-
-
-
-
3GainND
REEP3-
-
-
-
3GainND
REEP5-
-
-
-
3GainND
RELA-
-
-
-
1LossND
RELCH-
-
-
-
1LossND
RELL1p.R87C
Missense
SNP
0.515
2-ND
RELL2-
-
-
-
3GainND
RELN-
-
-
-
3GainND
RELT-
-
-
-
1LossND
REM2-
-
-
-
3GainND
REPIN1-
-
-
-
3GainND
RERGLp.R131Q
Missense
SNP
0.514
2-ND
RET-
-
-
-
3GainND
RETREG1-
-
-
-
1LossND
RETREG3-
-
-
-
4GainND
REXO2-
-
-
-
1LossND
REXO4-
-
-
-
1LossND
RFC2-
-
-
-
3GainND
RFESD-
-
-
-
1LossND
RFFL-
-
-
-
3GainND
RFK-
-
-
-
1LossND
RFNG-
-
-
-
4GainND
RFPL1p.E315K
Missense
SNP
0.333
3GainND
RFPL2-
-
-
-
3GainND
RFPL3-
-
-
-
3GainND
RFX3-
-
-
-
1LossND
RGL4-
-
-
-
3GainND
RGMB-
-
-
-
1LossND
RGR-
-
-
-
1LossND
RGS10-
-
-
-
1LossND
RGS14-
-
-
-
3GainND
RGS22p.M189I
Missense
SNP
0.478
2-ND
RGS3-
-
-
-
1LossND
RGS6-
-
-
-
3GainND
RGS7p.E383K
Missense
SNP
0.371
2-ND
RGS7BPp.E157K
Missense
SNP
1.000
1LossND
RGS9-
-
-
-
4GainND
RHBDD2-
-
-
-
3GainND
RHBDD3-
-
-
-
3GainND
RHBDF2-
-
-
-
4GainND
RHBDL3-
-
-
-
4GainND
RHEB-
-
-
-
3GainND
RHOBTB1-
-
-
-
3GainND
RHOBTB3-
-
-
-
1LossND
RHOD-
-
-
-
1LossND
RHOG-
-
-
-
1LossND
RHOJ-
-
-
-
3GainND
RHOT1-
-
-
-
4GainND
RIBC2-
-
-
-
3GainND
RIC1-
-
-
-
1LossND
RIC3-
-
-
-
1LossND
RIC8A-
-
-
-
1LossND
RICTOR-
-
-
-
1LossND
RIMS1p.P965L
Missense
SNP
0.465
2-ND
RIMS2p.E178K
Missense
SNP
0.437
2-ND
RIN1-
-
-
-
1LossND
RIN3-
-
-
-
3GainND
RINT1-
-
-
-
3GainND
RIOK2-
-
-
-
1LossND
RIOX1-
-
-
-
3GainND
RIPK3-
-
-
-
3GainND
RLN1-
-
-
-
1LossND
RLN2-
-
-
-
1LossND
RMI1-
-
-
-
1LossND
RMND5B-
-
-
-
3GainND
RNASE1p.S51F
Missense
SNP
0.601
3GainND
RNASE10-
-
-
-
3GainND
RNASE11-
-
-
-
3GainND
RNASE12-
-
-
-
3GainND
RNASE13-
-
-
-
3GainND
RNASE2-
-
-
-
3GainND
RNASE3-
-
-
-
3GainND
RNASE4-
-
-
-
3GainND
RNASE6-
-
-
-
3GainND
RNASE7-
-
-
-
3GainND
RNASE8-
-
-
-
3GainND
RNASE9-
-
-
-
3GainND
RNASEH2C-
-
-
-
1LossND
RND2-
-
-
-
4GainND
RNF121-
-
-
-
1LossND
RNF130-
-
-
-
3GainND
RNF133-
-
-
-
3GainND
RNF135-
-
-
-
4GainND
RNF14-
-
-
-
3GainND
RNF141-
-
-
-
1LossND
RNF145-
-
-
-
3GainND
RNF148-
-
-
-
3GainND
RNF152-
-
-
-
1LossND
RNF157-
-
-
-
4GainND
RNF169-
-
-
-
1LossND
RNF180-
-
-
-
1LossND
RNF183-
-
-
-
1LossND
RNF185-
-
-
-
3GainND
RNF20-
-
-
-
1LossND
RNF208-
-
-
-
1LossND
RNF212B-
-
-
-
3GainND
RNF213-
-
-
-
4GainND
RNF214-
-
-
-
1LossND
RNF215-
-
-
-
3GainND
RNF216-
-
-
-
3GainND
RNF219p.P389L
Missense
SNP
0.397
2-ND
RNF220p.D204N
Missense
SNP
0.488
2-ND
RNF224-
-
-
-
1LossND
RNF26-
-
-
-
1LossND
RNF31-
-
-
-
3GainND
RNF32-
-
-
-
3GainND
RNF43-
-
-
-
4GainND
RNF44-
-
-
-
3GainND
RNF8p.P134L
Missense
SNP
0.550
2-ND
RNFT1-
-
-
-
4GainND
RNH1-
-
-
-
1LossND
RNLS-
-
-
-
1LossND
ROBO1p.P1072L
Missense
SNP
0.480
2-ND
ROBO3-
-
-
-
1LossND
ROBO4-
-
-
-
1LossND
ROM1-
-
-
-
1LossND
ROPN1L-
-
-
-
1LossND
ROR2-
-
-
-
1LossND
RORB-
-
-
-
1LossND
RP1p.E551K
p.S1124L
p.D1371N
p.S1661F
p.Q1061*
Missense
Missense
Missense
Missense
Nonsense
SNP
SNP
SNP
SNP
SNP
0.489
0.463
0.490
0.533
0.435
2-ND
RP11-310K10.1p.D643N
p.R200T
Missense
Missense
SNP
SNP
0.356
0.609
NDNDND
RP1L1p.G360R
Missense
SNP
0.491
2-ND
RP9-
-
-
-
3GainND
RPA3-
-
-
-
3GainND
RPEL1-
-
-
-
1LossND
RPGRIP1-
-
-
-
3GainND
RPH3Ap.S243L
p.R447C
Missense
Missense
SNP
SNP
0.402
0.422
2-ND
RPL10L-
-
-
-
3GainND
RPL12-
-
-
-
1LossND
RPL19-
-
-
-
4GainND
RPL23-
-
-
-
4GainND
RPL23A-
-
-
-
4GainND
RPL26L1-
-
-
-
3GainND
RPL27-
-
-
-
4GainND
RPL27A-
-
-
-
1LossND
RPL3-
-
-
-
3GainND
RPL35-
-
-
-
1LossND
RPL36AL-
-
-
-
3GainND
RPL37-
-
-
-
1LossND
RPL38-
-
-
-
4GainND
RPL7A-
-
-
-
1LossND
RPLP2-
-
-
-
1LossND
RPP30-
-
-
-
1LossND
RPP38-
-
-
-
3GainND
RPRML-
-
-
-
4GainND
RPS13-
-
-
-
1LossND
RPS14-
-
-
-
3GainND
RPS19BP1-
-
-
-
3GainND
RPS23-
-
-
-
1LossND
RPS24-
-
-
-
1LossND
RPS25-
-
-
-
1LossND
RPS29-
-
-
-
3GainND
RPS3-
-
-
-
1LossND
RPS6-
-
-
-
1LossND
RPS6KA4-
-
-
-
1LossND
RPS6KA5-
-
-
-
3GainND
RPS6KB1-
-
-
-
4GainND
RPS6KB2-
-
-
-
1LossND
RPS6KL1-
-
-
-
3GainND
RPTOR-
-
-
-
4GainND
RPUSD4-
-
-
-
1LossND
RRAGA-
-
-
-
1LossND
RRAS2-
-
-
-
1LossND
RRM1-
-
-
-
1LossND
RRP12-
-
-
-
1LossND
RRP15-
-
-
-
1LossND
RRP7A-
-
-
-
3GainND
RRP8-
-
-
-
1LossND
RSAD1-
-
-
-
4GainND
RSBN1L-
-
-
-
3GainND
RSF1-
-
-
-
1LossND
RSPH1p.G69E
Missense
SNP
1.000
2-ND
RSPH10B-
-
-
-
3GainND
RSPH10B2-
-
-
-
3GainND
RSPH14-
-
-
-
3GainND
RSU1-
-
-
-
3GainND
RTCAp.F160C
Missense
SNP
0.381
2-ND
RTCB-
-
-
-
3GainND
RTKN2-
-
-
-
3GainND
RTL1p.E87K
Missense
SNP
0.387
3GainND
RTL10-
-
-
-
3GainND
RTL6-
-
-
-
3GainND
RTN1-
-
-
-
3GainND
RTN3-
-
-
-
1LossND
RTN4R-
-
-
-
3GainND
RTN4RL2-
-
-
-
1LossND
RTRAF-
-
-
-
3GainND
RTTN-
-
-
-
1LossND
RUFY1-
-
-
-
3GainND
RUFY2-
-
-
-
3GainND
RUFY4p.V339A
Missense
SNP
0.507
2-ND
RUNDC1-
-
-
-
4GainND
RUNDC3A-
-
-
-
4GainND
RUNX1T1p.P113L
Missense
SNP
0.457
2-ND
RXFP3-
-
-
-
1LossND
RXRA-
-
-
-
1LossND
RYR1p.E4120K
Missense
SNP
1.000
2-ND
RYR2p.E3424K
Missense
SNP
0.548
2-ND
S100Z-
-
-
-
1LossND
S1PR3-
-
-
-
1LossND
SAA1-
-
-
-
1LossND
SAA2-
-
-
-
1LossND
SAA2-SAA4-
-
-
-
1LossND
SAA4-
-
-
-
1LossND
SAAL1-
-
-
-
1LossND
SAC3D1-
-
-
-
1LossND
SALL2p.R1000Q
Missense
SNP
0.610
3GainND
SALL3p.P648S
Missense
SNP
0.699
1LossND
SAMD14-
-
-
-
5AmpND
SAMD15-
-
-
-
3GainND
SAMD4A-
-
-
-
3GainND
SAMD7p.R110K
Missense
SNP
0.460
2-ND
SAMD8-
-
-
-
3GainND
SAMD9p.P466S
Missense
SNP
0.235
2-ND
SAMD9Lp.H741L
Missense
SNP
0.770
NDNDND
SAMM50-
-
-
-
3GainND
SAP25-
-
-
-
3GainND
SAP30BP-
-
-
-
4GainND
SAP30L-
-
-
-
3GainND
SAPCD2-
-
-
-
1LossND
SAR1A-
-
-
-
3GainND
SAR1B-
-
-
-
3GainND
SARDH-
-
-
-
1LossND
SARM1-
-
-
-
4GainND
SART1-
-
-
-
1LossND
SAV1-
-
-
-
3GainND
SAXO1-
-
-
-
1LossND
SBDS-
-
-
-
3GainND
SBF1-
-
-
-
3GainND
SBF2-
-
-
-
1LossND
SBK2p.E64K
Missense
SNP
0.995
2-ND
SC5D-
-
-
-
1LossND
SCAI-
-
-
-
1LossND
SCAMP1-
-
-
-
1LossND
SCARA3p.E243K
Missense
SNP
0.510
2-ND
SCARF2-
-
-
-
3GainND
SCART1-
-
-
-
1LossND
SCD-
-
-
-
1LossND
SCFD1-
-
-
-
3GainND
SCGB1A1-
-
-
-
1LossND
SCGB1C1-
-
-
-
1LossND
SCGB1D1-
-
-
-
1LossND
SCGB1D2-
-
-
-
1LossND
SCGB1D4-
-
-
-
1LossND
SCGB2A1-
-
-
-
1LossND
SCGB2A2-
-
-
-
1LossND
SCGB3A1-
-
-
-
3GainND
SCGB3A2-
-
-
-
3GainND
SCIN-
-
-
-
3GainND
SCN10Ap.E1826K
Missense
SNP
0.439
2-ND
SCN11Ap.E1732K
p.S757F
Missense
Missense
SNP
SNP
0.449
0.475
2-ND
SCN1Ap.R1912Q
Missense
SNP
0.481
2-ND
SCN2B-
-
-
-
1LossND
SCN3B-
-
-
-
1LossND
SCN4A-
-
-
-
4GainND
SCN4B-
-
-
-
1LossND
SCN5Ap.A1581V
Missense
SNP
0.470
2-ND
SCN7Ap.Q1429*
p.M371I
Nonsense
Missense
SNP
SNP
0.507
0.324
2-ND
SCN9Ap.D1571N
p.D573N
Missense
Missense
SNP
SNP
0.492
0.455
2-ND
SCNN1Gp.S323F
Missense
SNP
0.573
2-ND
SCO2-
-
-
-
3GainND
SCPEP1-
-
-
-
4GainND
SCRN1-
-
-
-
3GainND
SCRN2-
-
-
-
4GainND
SCT-
-
-
-
1LossND
SCUBE1-
-
-
-
3GainND
SCUBE2-
-
-
-
1LossND
SCYL1-
-
-
-
1LossND
SDE2-
-
-
-
1LossND
SDF2-
-
-
-
4GainND
SDF2L1-
-
-
-
3GainND
SDHA-
-
-
-
1LossND
SDHAF2-
-
-
-
1LossND
SDHD-
-
-
-
1LossND
SDK1p.S1017F
Missense
SNP
0.737
3GainND
SDK2-
-
-
-
4GainND
SDR39U1-
-
-
-
3GainND
SEBOX-
-
-
-
4GainND
SEC11C-
-
-
-
1LossND
SEC14L1-
-
-
-
4GainND
SEC14L2-
-
-
-
3GainND
SEC14L3-
-
-
-
3GainND
SEC14L4-
-
-
-
3GainND
SEC14L5p.D633N
Missense
SNP
0.505
2-ND
SEC14L6-
-
-
-
3GainND
SEC16A-
-
-
-
1LossND
SEC23A-
-
-
-
3GainND
SEC23IP-
-
-
-
1LossND
SEC24A-
-
-
-
3GainND
SEC24Bp.R1059W
Missense
SNP
0.395
2-ND
SEC24C-
-
-
-
3GainND
SEC31B-
-
-
-
1LossND
SEC61A2-
-
-
-
3GainND
SEC61B-
-
-
-
1LossND
SECISBP2-
-
-
-
1LossND
SECTM1-
-
-
-
4GainND
SEL1L-
-
-
-
3GainND
SELENOH-
-
-
-
1LossND
SELENOM-
-
-
-
3GainND
SELENOO-
-
-
-
3GainND
SELENOP-
-
-
-
1LossND
SELPp.G333E
p.G248R
Missense
Missense
SNP
SNP
0.425
0.489
2-ND
SEMA3A-
-
-
-
3GainND
SEMA3Cp.P371S
Missense
SNP
0.771
3GainND
SEMA3D-
-
-
-
3GainND
SEMA3E-
-
-
-
3GainND
SEMA4D-
-
-
-
1LossND
SEMA4G-
-
-
-
1LossND
SEMA5A-
-
-
-
1LossND
SEMA5Bp.E826K
Missense
SNP
0.492
2-ND
SEMA6A-
-
-
-
3GainND
SEPHS1-
-
-
-
3GainND
SEPT3-
-
-
-
3GainND
SEPT4-
-
-
-
4GainND
SEPT5-
-
-
-
3GainND
SEPT5-GP1BB-
-
-
-
3GainND
SEPT7-
-
-
-
3GainND
SEPT8-
-
-
-
3GainND
SEPT9-
-
-
-
4GainND
SERF1A-
-
-
-
1LossND
SERF1B-
-
-
-
1LossND
SERGEF-
-
-
-
1LossND
SERHL2-
-
-
-
3GainND
SERINC5-
-
-
-
1LossND
SERPINA1-
-
-
-
3GainND
SERPINA10p.R284C
Missense
SNP
0.288
3GainND
SERPINA11-
-
-
-
3GainND
SERPINA12p.R302K
Missense
SNP
0.657
3GainND
SERPINA3-
-
-
-
3GainND
SERPINA4-
-
-
-
3GainND
SERPINA5-
-
-
-
3GainND
SERPINA6-
-
-
-
3GainND
SERPINA7p.L39F
Missense
SNP
1.000
NDNDND
SERPINA9-
-
-
-
3GainND
SERPINB10-
-
-
-
1LossND
SERPINB11-
-
-
-
1LossND
SERPINB12-
-
-
-
1LossND
SERPINB13-
-
-
-
1LossND
SERPINB2-
-
-
-
1LossND
SERPINB3-
-
-
-
1LossND
SERPINB4p.R374M
p.X118_splice
p.S33N
Missense
Splice_Site
Missense
SNP
SNP
SNP
0.230
0.224
0.265
1LossND
SERPINB5-
-
-
-
1LossND
SERPINB7-
-
-
-
1LossND
SERPINB8-
-
-
-
1LossND
SERPIND1-
-
-
-
3GainND
SERPINE1-
-
-
-
3GainND
SERPING1-
-
-
-
1LossND
SERPINH1-
-
-
-
1LossND
SERTM1p.S75F
Missense
SNP
0.342
2-ND
SESN3-
-
-
-
1LossND
SET-
-
-
-
1LossND
SETD3-
-
-
-
3GainND
SETD9-
-
-
-
1LossND
SETX-
-
-
-
1LossND
SEZ6-
-
-
-
4GainND
SEZ6L-
-
-
-
3GainND
SF1-
-
-
-
1LossND
SF3A1-
-
-
-
3GainND
SF3B2-
-
-
-
1LossND
SFI1-
-
-
-
3GainND
SFMBT2-
-
-
-
3GainND
SFR1-
-
-
-
1LossND
SFRP2p.D150N
Missense
SNP
0.482
2-ND
SFRP4-
-
-
-
3GainND
SFRP5-
-
-
-
1LossND
SFTA3-
-
-
-
3GainND
SFTPA1-
-
-
-
1LossND
SFTPA2-
-
-
-
1LossND
SFTPD-
-
-
-
1LossND
SFXN1-
-
-
-
3GainND
SFXN2-
-
-
-
1LossND
SFXN3-
-
-
-
1LossND
SFXN4-
-
-
-
1LossND
SGCA-
-
-
-
5AmpND
SGCD-
-
-
-
3GainND
SGCZp.P102L
Missense
SNP
0.523
2-ND
SGK494-
-
-
-
4GainND
SGMS1-
-
-
-
3GainND
SGPL1-
-
-
-
3GainND
SGPP1-
-
-
-
3GainND
SGSHp.E447K
Missense
SNP
0.477
4GainND
SGSM1p.D86N
Missense
SNP
0.456
3GainND
SGSM3-
-
-
-
3GainND
SGTB-
-
-
-
1LossND
SH2B2-
-
-
-
3GainND
SH2D3C-
-
-
-
1LossND
SH2D4B-
-
-
-
1LossND
SH3BP1-
-
-
-
3GainND
SH3GL2-
-
-
-
1LossND
SH3GLB1p.R90C
Missense
SNP
0.292
2-ND
SH3GLB2-
-
-
-
1LossND
SH3PXD2A-
-
-
-
1LossND
SH3PXD2B-
-
-
-
3GainND
SH3RF2-
-
-
-
3GainND
SH3TC2-
-
-
-
3GainND
SH3YL1p.S314L
Missense
SNP
0.428
2-ND
SHANK2-
-
-
-
1LossND
SHANK3-
-
-
-
3GainND
SHC3-
-
-
-
1LossND
SHH-
-
-
-
3GainND
SHISA8-
-
-
-
3GainND
SHISA9p.H231Y
Missense
SNP
0.516
2-ND
SHISAL1-
-
-
-
3GainND
SHISAL2B-
-
-
-
1LossND
SHLD2-
-
-
-
1LossND
SHLD3-
-
-
-
1LossND
SHOC2-
-
-
-
1LossND
SHROOM1-
-
-
-
3GainND
SHTN1-
-
-
-
1LossND
SIp.P1252S
Missense
SNP
0.507
2-ND
SIAE-
-
-
-
1LossND
SIDT2-
-
-
-
1LossND
SIGIRR-
-
-
-
1LossND
SIGLEC1p.S473F
Missense
SNP
0.444
2-ND
SIGLEC12p.E538K
Missense
SNP
1.000
2-ND
SIGLEC9p.T223I
Missense
SNP
1.000
2-ND
SIK2-
-
-
-
1LossND
SIK3-
-
-
-
1LossND
SIL1-
-
-
-
3GainND
SIM1p.S433L
Missense
SNP
0.447
2-ND
SIMC1-
-
-
-
3GainND
SIPA1-
-
-
-
1LossND
SIPA1L1-
-
-
-
3GainND
SIPA1L2-
-
-
-
1LossND
SIRT1-
-
-
-
3GainND
SIRT3-
-
-
-
1LossND
SIRT7-
-
-
-
4GainND
SIVA1-
-
-
-
3GainND
SIX1-
-
-
-
3GainND
SIX4-
-
-
-
3GainND
SIX6-
-
-
-
3GainND
SKA2-
-
-
-
4GainND
SKAP1p.D234N
Missense
SNP
0.484
4GainND
SKAP2-
-
-
-
3GainND
SKIDA1-
-
-
-
3GainND
SKILp.R237Q
Missense
SNP
0.454
2-ND
SKP1-
-
-
-
3GainND
SKP2-
-
-
-
1LossND
SLAMF7p.N204Y
Missense
SNP
0.438
2-ND
SLC10A1-
-
-
-
3GainND
SLC12A2-
-
-
-
3GainND
SLC12A3p.D931N
Missense
SNP
0.537
2-ND
SLC12A7-
-
-
-
1LossND
SLC12A9-
-
-
-
3GainND
SLC13A1-
-
-
-
3GainND
SLC13A2-
-
-
-
4GainND
SLC13A3p.S446L
Missense
SNP
0.511
2-ND
SLC13A4-
-
-
-
3GainND
SLC15A3-
-
-
-
1LossND
SLC16A12-
-
-
-
1LossND
SLC16A14p.R314Q
Missense
SNP
0.471
2-ND
SLC16A3-
-
-
-
4GainND
SLC16A5p.P204L
Missense
SNP
0.498
4GainND
SLC16A6p.H517Y
p.P79L
Missense
Missense
SNP
SNP
0.438
0.488
4GainND
SLC16A8-
-
-
-
3GainND
SLC16A9-
-
-
-
3GainND
SLC17A6-
-
-
-
1LossND
SLC18A2-
-
-
-
1LossND
SLC18A3-
-
-
-
3GainND
SLC1A1-
-
-
-
1LossND
SLC1A2-
-
-
-
1LossND
SLC1A3-
-
-
-
1LossND
SLC22A10-
-
-
-
1LossND
SLC22A11-
-
-
-
1LossND
SLC22A12p.D55N
Missense
SNP
1.000
1LossND
SLC22A16p.R300Q
Missense
SNP
0.559
2-ND
SLC22A17-
-
-
-
3GainND
SLC22A18-
-
-
-
1LossND
SLC22A18AS-
-
-
-
1LossND
SLC22A24-
-
-
-
1LossND
SLC22A25-
-
-
-
1LossND
SLC22A4-
-
-
-
3GainND
SLC22A5-
-
-
-
3GainND
SLC22A6-
-
-
-
1LossND
SLC22A8-
-
-
-
1LossND
SLC22A9-
-
-
-
1LossND
SLC23A1-
-
-
-
3GainND
SLC24A2-
-
-
-
1LossND
SLC24A4-
-
-
-
3GainND
SLC25A1-
-
-
-
3GainND
SLC25A10-
-
-
-
4GainND
SLC25A16-
-
-
-
3GainND
SLC25A17-
-
-
-
3GainND
SLC25A19-
-
-
-
4GainND
SLC25A2-
-
-
-
3GainND
SLC25A21-
-
-
-
3GainND
SLC25A22-
-
-
-
1LossND
SLC25A25-
-
-
-
1LossND
SLC25A28-
-
-
-
1LossND
SLC25A29-
-
-
-
3GainND
SLC25A39-
-
-
-
4GainND
SLC25A45-
-
-
-
1LossND
SLC25A46-
-
-
-
3GainND
SLC25A47-
-
-
-
3GainND
SLC25A48-
-
-
-
3GainND
SLC26A11-
-
-
-
4GainND
SLC26A2-
-
-
-
3GainND
SLC26A3-
-
-
-
3GainND
SLC26A4p.D772N
Missense
SNP
0.295
3GainND
SLC26A5-
-
-
-
3GainND
SLC27A4-
-
-
-
1LossND
SLC27A6-
-
-
-
3GainND
SLC28A3-
-
-
-
1LossND
SLC29A2-
-
-
-
1LossND
SLC29A3-
-
-
-
3GainND
SLC2A11-
-
-
-
3GainND
SLC2A6-
-
-
-
1LossND
SLC2A8-
-
-
-
1LossND
SLC30A10-
-
-
-
1LossND
SLC30A5-
-
-
-
1LossND
SLC31A1-
-
-
-
1LossND
SLC31A2-
-
-
-
1LossND
SLC34A1p.A128V
Missense
SNP
0.307
3GainND
SLC34A3-
-
-
-
1LossND
SLC35A4-
-
-
-
3GainND
SLC35B1-
-
-
-
4GainND
SLC35B4-
-
-
-
3GainND
SLC35C1-
-
-
-
1LossND
SLC35D2-
-
-
-
1LossND
SLC35E4-
-
-
-
3GainND
SLC35F2-
-
-
-
1LossND
SLC35F3p.G118E
Missense
SNP
1.000
1LossND
SLC35F4-
-
-
-
3GainND
SLC35F5p.S180N
Missense
SNP
0.521
2-ND
SLC35G1-
-
-
-
1LossND
SLC35G3-
-
-
-
3GainND
SLC36A1-
-
-
-
3GainND
SLC36A2-
-
-
-
3GainND
SLC36A3-
-
-
-
3GainND
SLC36A4-
-
-
-
1LossND
SLC37A2-
-
-
-
1LossND
SLC37A4-
-
-
-
1LossND
SLC38A10-
-
-
-
4GainND
SLC38A6-
-
-
-
3GainND
SLC38A9-
-
-
-
1LossND
SLC39A11-
-
-
-
4GainND
SLC39A12-
-
-
-
3GainND
SLC39A13-
-
-
-
1LossND
SLC39A2-
-
-
-
3GainND
SLC39A4p.G172R
Missense
SNP
0.477
2-ND
SLC39A8p.H111Q
Missense
SNP
0.457
2-ND
SLC39A9-
-
-
-
3GainND
SLC3A2-
-
-
-
1LossND
SLC43A1-
-
-
-
1LossND
SLC43A3-
-
-
-
1LossND
SLC44A1-
-
-
-
1LossND
SLC45A2-
-
-
-
1LossND
SLC46A1p.M89I
Missense
SNP
0.474
4GainND
SLC46A2-
-
-
-
1LossND
SLC4A1p.G270E
Missense
SNP
0.493
4GainND
SLC4A10p.G287R
p.D971N
Missense
Missense
SNP
SNP
0.551
0.558
2-ND
SLC4A2-
-
-
-
3GainND
SLC4A9-
-
-
-
3GainND
SLC5A1-
-
-
-
3GainND
SLC5A12-
-
-
-
1LossND
SLC5A4-
-
-
-
3GainND
SLC5A8p.G545E
p.G536E
Missense
Missense
SNP
SNP
0.521
0.430
2-ND
SLC6A1p.E596K
Missense
SNP
0.498
2-ND
SLC6A13p.L421F
Missense
SNP
0.481
2-ND
SLC6A18-
-
-
-
1LossND
SLC6A19-
-
-
-
1LossND
SLC6A3-
-
-
-
1LossND
SLC6A4-
-
-
-
4GainND
SLC6A5-
-
-
-
1LossND
SLC6A7-
-
-
-
3GainND
SLC7A11-
-
-
-
3GainND
SLC7A2p.S162L
Missense
SNP
0.469
2-ND
SLC7A4-
-
-
-
3GainND
SLC7A7-
-
-
-
3GainND
SLC7A8-
-
-
-
3GainND
SLC8A1p.S70F
Missense
SNP
0.485
2-ND
SLC8A3-
-
-
-
3GainND
SLC9A3-
-
-
-
1LossND
SLC9A3R1-
-
-
-
4GainND
SLC9C1p.G906R
Missense
SNP
0.435
2-ND
SLCO1C1p.G546E
p.H697Y
Missense
Missense
SNP
SNP
0.486
0.500
2-ND
SLCO2B1-
-
-
-
1LossND
SLCO4C1-
-
-
-
1LossND
SLCO6A1-
-
-
-
1LossND
SLF1-
-
-
-
1LossND
SLF2-
-
-
-
1LossND
SLFN11-
-
-
-
3GainND
SLFN12-
-
-
-
3GainND
SLFN12L-
-
-
-
3GainND
SLFN13-
-
-
-
3GainND
SLFN14-
-
-
-
3GainND
SLFN5-
-
-
-
3GainND
SLIRP-
-
-
-
3GainND
SLIT1-
-
-
-
1LossND
SLIT3p.N663S
Missense
SNP
0.651
3GainND
SLITRK2p.R102*
Nonsense
SNP
1.000
NDNDND
SLITRK3p.P650L
p.R443C
Missense
Missense
SNP
SNP
0.435
0.459
2-ND
SLK-
-
-
-
1LossND
SLN-
-
-
-
1LossND
SLU7-
-
-
-
3GainND
SMAD5-
-
-
-
3GainND
SMARCA2-
-
-
-
1LossND
SMARCB1-
-
-
-
3GainND
SMARCD2-
-
-
-
4GainND
SMARCD3-
-
-
-
3GainND
SMARCE1-
-
-
-
4GainND
SMC1Bp.E840K
Missense
SNP
0.354
3GainND
SMC2-
-
-
-
1LossND
SMC3-
-
-
-
1LossND
SMC5-
-
-
-
1LossND
SMC6p.S10F
Missense
SNP
0.493
2-ND
SMCO4-
-
-
-
1LossND
SMDT1-
-
-
-
3GainND
SMG8-
-
-
-
4GainND
SMIM15-
-
-
-
1LossND
SMIM21-
-
-
-
1LossND
SMIM23-
-
-
-
3GainND
SMIM27-
-
-
-
1LossND
SMIM3-
-
-
-
3GainND
SMIM30-
-
-
-
3GainND
SMIM32-
-
-
-
3GainND
SMIM33-
-
-
-
3GainND
SMIM5-
-
-
-
4GainND
SMIM6-
-
-
-
4GainND
SMKR1-
-
-
-
3GainND
SMN1-
-
-
-
1LossND
SMN2-
-
-
-
1LossND
SMNDC1-
-
-
-
1LossND
SMO-
-
-
-
3GainND
SMOC1-
-
-
-
3GainND
SMPD1-
-
-
-
1LossND
SMPDL3Bp.S50F
Missense
SNP
0.492
2-ND
SMTN-
-
-
-
3GainND
SMTNL1p.P30S
p.S120F
Missense
Missense
SNP
SNP
1.000
1.000
1LossND
SMU1-
-
-
-
1LossND
SMURF2-
-
-
-
4GainND
SMYD3p.S317F
Missense
SNP
0.442
2-ND
SNAP29-
-
-
-
3GainND
SNAP47-
-
-
-
1LossND
SNAPC1-
-
-
-
3GainND
SNAPC3-
-
-
-
1LossND
SNAPC4-
-
-
-
1LossND
SNCAIPp.H472Y
Missense
SNP
0.718
3GainND
SNCB-
-
-
-
3GainND
SNCG-
-
-
-
1LossND
SND1-
-
-
-
3GainND
SNED1p.R985Q
Missense
SNP
0.470
2-ND
SNF8-
-
-
-
4GainND
SNRPD3-
-
-
-
3GainND
SNTB1p.Q287*
Nonsense
SNP
0.503
2-ND
SNTG1p.G419R
Missense
SNP
0.476
2-ND
SNU13-
-
-
-
3GainND
SNW1-
-
-
-
3GainND
SNX10-
-
-
-
3GainND
SNX11-
-
-
-
4GainND
SNX13-
-
-
-
3GainND
SNX15-
-
-
-
1LossND
SNX18-
-
-
-
1LossND
SNX19-
-
-
-
1LossND
SNX2-
-
-
-
3GainND
SNX24-
-
-
-
3GainND
SNX30-
-
-
-
1LossND
SNX32-
-
-
-
1LossND
SNX6-
-
-
-
3GainND
SNX8-
-
-
-
3GainND
SOCS3-
-
-
-
4GainND
SOCS4-
-
-
-
3GainND
SOCS6-
-
-
-
1LossND
SOCS7-
-
-
-
4GainND
SOHLH1-
-
-
-
1LossND
SORBS1-
-
-
-
1LossND
SORBS2p.E612K
Missense
SNP
0.470
2-ND
SORCS1p.D1041N
Missense
SNP
1.000
1LossND
SORCS3-
-
-
-
1LossND
SORL1-
-
-
-
1LossND
SOS2-
-
-
-
3GainND
SOST-
-
-
-
4GainND
SOSTDC1-
-
-
-
3GainND
SOWAHA-
-
-
-
3GainND
SOX10-
-
-
-
3GainND
SOX30-
-
-
-
3GainND
SOX6-
-
-
-
1LossND
SOX9-
-
-
-
4GainND
SP2-
-
-
-
4GainND
SP4-
-
-
-
3GainND
SP6-
-
-
-
4GainND
SP8-
-
-
-
3GainND
SPA17-
-
-
-
1LossND
SPACA3-
-
-
-
3GainND
SPACA9-
-
-
-
1LossND
SPAG17p.G1407E
p.P1220S
Missense
Missense
SNP
SNP
0.548
0.457
2-ND
SPAG5-
-
-
-
4GainND
SPAG6-
-
-
-
3GainND
SPAG9-
-
-
-
4GainND
SPAM1-
-
-
-
3GainND
SPARC-
-
-
-
3GainND
SPATA17-
-
-
-
1LossND
SPATA19-
-
-
-
1LossND
SPATA20-
-
-
-
4GainND
SPATA24-
-
-
-
3GainND
SPATA31D1-
-
-
-
1LossND
SPATA31D3-
-
-
-
0DelND
SPATA31D4-
-
-
-
0DelND
SPATA31E1-
-
-
-
1LossND
SPATA32-
-
-
-
4GainND
SPATA6Lp.P104S
Missense
SNP
1.000
1LossND
SPATA7-
-
-
-
3GainND
SPATA9-
-
-
-
1LossND
SPATS1p.D52N
Missense
SNP
0.448
2-ND
SPCS2-
-
-
-
1LossND
SPDL1-
-
-
-
3GainND
SPDYC-
-
-
-
1LossND
SPDYE3-
-
-
-
3GainND
SPECC1L-
-
-
-
3GainND
SPECC1L-ADORA2A-
-
-
-
3GainND
SPEF2-
-
-
-
1LossND
SPEGp.S2541N
p.R2958*
Missense
Nonsense
SNP
SNP
0.455
0.543
2-ND
SPHK1-
-
-
-
4GainND
SPHKAPp.M1558I
p.K1045R
p.A303T
Missense
Missense
Missense
SNP
SNP
SNP
0.436
0.492
0.486
2-ND
SPI1-
-
-
-
1LossND
SPIN1-
-
-
-
1LossND
SPINDOC-
-
-
-
1LossND
SPINK1-
-
-
-
3GainND
SPINK13-
-
-
-
3GainND
SPINK14-
-
-
-
3GainND
SPINK4-
-
-
-
1LossND
SPINK5-
-
-
-
3GainND
SPINK6-
-
-
-
3GainND
SPINK7-
-
-
-
3GainND
SPINK9-
-
-
-
3GainND
SPOCK1-
-
-
-
3GainND
SPOCK2-
-
-
-
3GainND
SPOCK3p.G366E
p.G155S
Missense
Missense
SNP
SNP
0.463
0.520
2-ND
SPON1-
-
-
-
1LossND
SPOP-
-
-
-
4GainND
SPOUT1-
-
-
-
1LossND
SPP1p.R301C
Missense
SNP
0.556
2-ND
SPPL2C-
-
-
-
4GainND
SPRN-
-
-
-
1LossND
SPRY4-
-
-
-
3GainND
SPTAN1-
-
-
-
1LossND
SPTBp.S1715F
p.G1575E
p.D504N
Missense
Missense
Missense
SNP
SNP
SNP
0.319
0.650
0.665
3GainND
SPTBN1p.P603L
Missense
SNP
0.588
2-ND
SPTBN2-
-
-
-
1LossND
SPTLC1-
-
-
-
1LossND
SPTLC2-
-
-
-
3GainND
SPTLC3p.D102N
Missense
SNP
0.512
2-ND
SPTSSA-
-
-
-
3GainND
SPTY2D1-
-
-
-
1LossND
SPZ1-
-
-
-
1LossND
SQSTM1-
-
-
-
3GainND
SRA1-
-
-
-
3GainND
SRCIN1-
-
-
-
4GainND
SRD5A1-
-
-
-
1LossND
SREBF2-
-
-
-
3GainND
SREK1-
-
-
-
1LossND
SREK1IP1-
-
-
-
1LossND
SRFBP1-
-
-
-
3GainND
SRGN-
-
-
-
3GainND
SRP19-
-
-
-
3GainND
SRP54-
-
-
-
3GainND
SRP68-
-
-
-
4GainND
SRP9-
-
-
-
1LossND
SRPK2-
-
-
-
3GainND
SRPRA-
-
-
-
1LossND
SRRD-
-
-
-
3GainND
SRRM2p.S417F
Missense
SNP
0.530
2-ND
SRRM3-
-
-
-
3GainND
SRRT-
-
-
-
3GainND
SRSF1-
-
-
-
4GainND
SRSF2-
-
-
-
4GainND
SRSF5-
-
-
-
3GainND
SRSF8-
-
-
-
1LossND
SSBP2-
-
-
-
1LossND
SSC4D-
-
-
-
3GainND
SSFA2p.P871L
Missense
SNP
0.407
NDNDND
SSH2-
-
-
-
4GainND
SSH3-
-
-
-
1LossND
SSMEM1-
-
-
-
3GainND
SSNA1-
-
-
-
1LossND
SSPO-
-
-
-
3GainND
SSRP1-
-
-
-
1LossND
SSSCA1-
-
-
-
1LossND
SSTR1-
-
-
-
3GainND
SSTR2-
-
-
-
4GainND
SSTR3p.G343R
Missense
SNP
0.364
3GainND
SSTR4-
-
-
-
3GainND
SSU72P2-
-
-
-
1LossND
SSU72P3-
-
-
-
1LossND
SSU72P4-
-
-
-
1LossND
SSU72P5-
-
-
-
1LossND
SSU72P8-
-
-
-
3GainND
ST13-
-
-
-
3GainND
ST14-
-
-
-
1LossND
ST18p.G747E
Missense
SNP
0.538
2-ND
ST3GAL4-
-
-
-
1LossND
ST5-
-
-
-
1LossND
ST6GAL2p.R398C
Missense
SNP
0.496
2-ND
ST6GALNAC1-
-
-
-
4GainND
ST6GALNAC2-
-
-
-
4GainND
ST6GALNAC4-
-
-
-
1LossND
ST6GALNAC6-
-
-
-
1LossND
ST7-
-
-
-
3GainND
ST8SIA3-
-
-
-
1LossND
ST8SIA4-
-
-
-
1LossND
ST8SIA6-
-
-
-
3GainND
STAB2p.G1919S
Missense
SNP
0.520
2-ND
STACp.M127I
p.G130E
p.D266N
Missense
Missense
Missense
SNP
SNP
SNP
0.471
0.476
0.514
2-ND
STAC2-
-
-
-
4GainND
STAG3-
-
-
-
3GainND
STAM-
-
-
-
3GainND
STAMBPL1-
-
-
-
1LossND
STARD10-
-
-
-
1LossND
STARD13p.E201K
Missense
SNP
0.444
2-ND
STARD3-
-
-
-
4GainND
STARD3NL-
-
-
-
3GainND
STARD4-
-
-
-
3GainND
STARD6p.G122E
Missense
SNP
0.311
1LossND
STAT3-
-
-
-
4GainND
STAT5A-
-
-
-
4GainND
STAT5B-
-
-
-
4GainND
STAT6p.E623G
Missense
SNP
0.503
2-ND
STC2-
-
-
-
3GainND
STEAP1B-
-
-
-
3GainND
STH-
-
-
-
4GainND
STIM1-
-
-
-
1LossND
STIP1-
-
-
-
1LossND
STK10-
-
-
-
3GainND
STK17A-
-
-
-
3GainND
STK31-
-
-
-
3GainND
STK32A-
-
-
-
3GainND
STK33-
-
-
-
1LossND
STKLD1-
-
-
-
1LossND
STMP1-
-
-
-
3GainND
STN1-
-
-
-
1LossND
STOM-
-
-
-
1LossND
STON2p.E822K
Missense
SNP
0.294
3GainND
STOX1-
-
-
-
3GainND
STPG3-
-
-
-
1LossND
STRA8-
-
-
-
3GainND
STRADA-
-
-
-
4GainND
STRBP-
-
-
-
1LossND
STRIP2-
-
-
-
3GainND
STRN3-
-
-
-
3GainND
STT3A-
-
-
-
1LossND
STUM-
-
-
-
1LossND
STX17-
-
-
-
1LossND
STX3-
-
-
-
1LossND
STX5-
-
-
-
1LossND
STXBP1-
-
-
-
1LossND
STXBP4-
-
-
-
4GainND
STXBP6-
-
-
-
3GainND
STYX-
-
-
-
3GainND
STYXL1p.S246F
Missense
SNP
0.679
3GainND
SUB1-
-
-
-
1LossND
SUFU-
-
-
-
1LossND
SUGCT-
-
-
-
3GainND
SULF1p.R38Q
Missense
SNP
0.524
2-ND
SULT4A1-
-
-
-
3GainND
SUMO2-
-
-
-
4GainND
SUN1-
-
-
-
3GainND
SUN2-
-
-
-
3GainND
SUPT16H-
-
-
-
3GainND
SUPT4H1-
-
-
-
4GainND
SUPT6H-
-
-
-
4GainND
SUPV3L1-
-
-
-
3GainND
SURF1-
-
-
-
1LossND
SURF2-
-
-
-
1LossND
SURF4-
-
-
-
1LossND
SURF6-
-
-
-
1LossND
SUSD1-
-
-
-
1LossND
SUSD2-
-
-
-
3GainND
SUSD3-
-
-
-
1LossND
SUSD6-
-
-
-
3GainND
SUV39H2-
-
-
-
3GainND
SUZ12-
-
-
-
4GainND
SV2C-
-
-
-
1LossND
SVEP1p.R2526Q
p.S2388F
Missense
Missense
SNP
SNP
1.000
1.000
1LossND
SVIL-
-
-
-
3GainND
SVIP-
-
-
-
1LossND
SWAP70-
-
-
-
1LossND
SWI5-
-
-
-
1LossND
SWT1p.P36S
Missense
SNP
0.359
2-ND
SYCE1-
-
-
-
1LossND
SYCE3-
-
-
-
3GainND
SYK-
-
-
-
1LossND
SYN3-
-
-
-
3GainND
SYNDIG1L-
-
-
-
3GainND
SYNE1p.D2575N
p.E952K
Missense
Missense
SNP
SNP
0.333
0.587
2-ND
SYNE2-
-
-
-
3GainND
SYNE3-
-
-
-
3GainND
SYNGR1-
-
-
-
3GainND
SYNGR2-
-
-
-
4GainND
SYNJ2p.S883F
Missense
SNP
0.472
2-ND
SYNJ2BP-
-
-
-
3GainND
SYNJ2BP-COX16-
-
-
-
3GainND
SYNPO-
-
-
-
3GainND
SYNPO2p.M1002I
Missense
SNP
0.508
2-ND
SYNPO2L-
-
-
-
3GainND
SYNRG-
-
-
-
3GainND
SYPL1-
-
-
-
3GainND
SYPL2p.E69K
Missense
SNP
0.463
2-ND
SYT1p.E95K
Missense
SNP
0.345
2-ND
SYT11p.E143K
Missense
SNP
0.448
2-ND
SYT12-
-
-
-
1LossND
SYT13-
-
-
-
1LossND
SYT15-
-
-
-
3GainND
SYT16-
-
-
-
3GainND
SYT17p.M415I
Missense
SNP
0.340
2-ND
SYT7-
-
-
-
1LossND
SYT8-
-
-
-
1LossND
SYT9-
-
-
-
1LossND
SYTL2-
-
-
-
1LossND
SYVN1-
-
-
-
1LossND
TAB1-
-
-
-
3GainND
TAC4-
-
-
-
4GainND
TACC2-
-
-
-
1LossND
TACO1-
-
-
-
4GainND
TACR2-
-
-
-
3GainND
TADA2A-
-
-
-
3GainND
TAF10-
-
-
-
1LossND
TAF15-
-
-
-
3GainND
TAF1D-
-
-
-
1LossND
TAF1Lp.G1339E
Missense
SNP
1.000
1LossND
TAF3-
-
-
-
3GainND
TAF4p.R829W
Missense
SNP
0.452
2-ND
TAF5-
-
-
-
1LossND
TAF6-
-
-
-
3GainND
TAF6L-
-
-
-
1LossND
TAF7p.Q282*
Nonsense
SNP
0.374
3GainND
TAF9-
-
-
-
1LossND
TAGLN-
-
-
-
1LossND
TAL2-
-
-
-
1LossND
TALDO1-
-
-
-
1LossND
TANC2-
-
-
-
4GainND
TANGO2-
-
-
-
3GainND
TAOK1p.S174F
Missense
SNP
0.484
4GainND
TARBP1-
-
-
-
1LossND
TARS-
-
-
-
1LossND
TAS2R1-
-
-
-
1LossND
TAS2R16-
-
-
-
3GainND
TAS2R39-
-
-
-
3GainND
TAS2R40-
-
-
-
3GainND
TAS2R41-
-
-
-
3GainND
TAS2R60-
-
-
-
3GainND
TAX1BP1-
-
-
-
3GainND
TBATA-
-
-
-
3GainND
TBC1D10A-
-
-
-
3GainND
TBC1D10C-
-
-
-
1LossND
TBC1D12-
-
-
-
1LossND
TBC1D13-
-
-
-
1LossND
TBC1D16-
-
-
-
4GainND
TBC1D2-
-
-
-
1LossND
TBC1D20p.X86_splice
Splice_Site
SNP
0.504
2-ND
TBC1D22A-
-
-
-
3GainND
TBC1D29-
-
-
-
4GainND
TBC1D5p.S752F
Missense
SNP
0.480
2-ND
TBC1D9B-
-
-
-
3GainND
TBCA-
-
-
-
1LossND
TBCD-
-
-
-
4GainND
TBCEL-
-
-
-
1LossND
TBKBP1-
-
-
-
4GainND
TBPL2-
-
-
-
3GainND
TBRG1-
-
-
-
1LossND
TBX1-
-
-
-
3GainND
TBX10-
-
-
-
1LossND
TBX2-
-
-
-
4GainND
TBX20-
-
-
-
3GainND
TBX21-
-
-
-
4GainND
TBX3p.D226N
Missense
SNP
0.442
2-ND
TBX4-
-
-
-
4GainND
TC2Np.E97K
Missense
SNP
0.689
3GainND
TCAF1-
-
-
-
3GainND
TCAF2-
-
-
-
3GainND
TCAP-
-
-
-
4GainND
TCEB3Bp.E416K
Missense
SNP
0.603
NDNDND
TCERG1-
-
-
-
3GainND
TCERG1L-
-
-
-
1LossND
TCF20-
-
-
-
3GainND
TCF4-
-
-
-
1LossND
TCF7-
-
-
-
3GainND
TCF7L2-
-
-
-
1LossND
TCHHp.E1364K
Missense
SNP
0.475
2-ND
TCIRG1-
-
-
-
1LossND
TCL1A-
-
-
-
3GainND
TCL1B-
-
-
-
3GainND
TCN1-
-
-
-
1LossND
TCN2-
-
-
-
3GainND
TCOF1-
-
-
-
3GainND
TCP11L1-
-
-
-
1LossND
TCTN3-
-
-
-
1LossND
TDP1-
-
-
-
3GainND
TDRD1-
-
-
-
1LossND
TDRD7-
-
-
-
1LossND
TDRD9-
-
-
-
3GainND
TEAD1-
-
-
-
1LossND
TEAD2p.R295C
Missense
SNP
0.991
2-ND
TECPR2-
-
-
-
3GainND
TECTA-
-
-
-
1LossND
TECTB-
-
-
-
1LossND
TEDC1-
-
-
-
3GainND
TEF-
-
-
-
3GainND
TEFM-
-
-
-
4GainND
TEK-
-
-
-
1LossND
TEN1-
-
-
-
4GainND
TEN1-CDK3-
-
-
-
4GainND
TENM1p.P296S
Missense
SNP
1.000
NDNDND
TENM2-
-
-
-
3GainND
TENM4p.Q1046*
Nonsense
SNP
1.000
1LossND
TENT2-
-
-
-
1LossND
TENT4A-
-
-
-
1LossND
TEP1-
-
-
-
3GainND
TEPSIN-
-
-
-
4GainND
TERT-
-
-
-
1LossND
TES-
-
-
-
3GainND
TESMIN-
-
-
-
1LossND
TET1p.Q54*
p.R590Q
Nonsense
Missense
SNP
SNP
0.641
0.587
3GainND
TET2p.P1889L
Missense
SNP
0.476
2-ND
TEX10-
-
-
-
1LossND
TEX12-
-
-
-
1LossND
TEX14p.S379F
Missense
SNP
0.250
4GainND
TEX15p.E1042K
Missense
SNP
0.465
2-ND
TEX19-
-
-
-
4GainND
TEX2-
-
-
-
4GainND
TEX22-
-
-
-
3GainND
TEX33-
-
-
-
3GainND
TEX36-
-
-
-
1LossND
TEX43-
-
-
-
3GainND
TEX48-
-
-
-
1LossND
TFp.P266S
Missense
SNP
0.460
2-ND
TFAM-
-
-
-
3GainND
TFCP2L1p.R190*
p.D127N
Nonsense
Missense
SNP
SNP
0.515
0.563
2-ND
TFEC-
-
-
-
3GainND
TFIP11-
-
-
-
3GainND
TFR2-
-
-
-
3GainND
TGFB2-
-
-
-
1LossND
TGFB3-
-
-
-
3GainND
TGFBIp.E126K
Missense
SNP
0.322
3GainND
TGFBR1-
-
-
-
1LossND
TGM1p.R79K
Missense
SNP
0.681
3GainND
TGM3p.W328*
Nonsense
SNP
0.474
2-ND
TH-
-
-
-
1LossND
THAP12-
-
-
-
1LossND
THAP5-
-
-
-
3GainND
THAP7-
-
-
-
3GainND
THBD-
-
-
-
3GainND
THBS2p.D125N
Missense
SNP
0.424
2-ND
THBS4-
-
-
-
1LossND
THEMISp.D204N
p.H161Y
Missense
Missense
SNP
SNP
0.500
0.486
2-ND
THG1L-
-
-
-
3GainND
THNSL1-
-
-
-
3GainND
THOC3-
-
-
-
3GainND
THOC5-
-
-
-
3GainND
THPOp.P294L
Missense
SNP
0.547
2-ND
THRA-
-
-
-
4GainND
THRSP-
-
-
-
1LossND
THSD4p.G465E
Missense
SNP
0.669
2-ND
THSD7Ap.G977E
Missense
SNP
0.209
3GainND
THSD7Bp.G975E
p.R1275Q
p.E1323K
p.S1338L
p.R1473W
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
0.497
0.516
0.487
0.534
0.508
2-ND
THTPA-
-
-
-
3GainND
THY1-
-
-
-
1LossND
THYN1-
-
-
-
1LossND
TIAF1-
-
-
-
4GainND
TIAL1-
-
-
-
1LossND
TIAM2p.P453S
Missense
SNP
0.483
2-ND
TIE1p.G299R
Missense
SNP
0.489
2-ND
TIFAB-
-
-
-
3GainND
TIGD3-
-
-
-
1LossND
TIGD6-
-
-
-
3GainND
TIGIT-
-
-
-
1LossND
TIMD4-
-
-
-
3GainND
TIMM10-
-
-
-
1LossND
TIMM10B-
-
-
-
1LossND
TIMM21-
-
-
-
1LossND
TIMM23-
-
-
-
3GainND
TIMM23B-
-
-
-
3GainND
TIMM8B-
-
-
-
1LossND
TIMM9-
-
-
-
3GainND
TIMP2-
-
-
-
4GainND
TIMP3-
-
-
-
3GainND
TINAGp.R191C
Missense
SNP
0.471
2-ND
TINF2-
-
-
-
3GainND
TIRAP-
-
-
-
1LossND
TJP2-
-
-
-
1LossND
TK1-
-
-
-
4GainND
TKFC-
-
-
-
1LossND
TLCD1-
-
-
-
4GainND
TLE1-
-
-
-
1LossND
TLE4-
-
-
-
1LossND
TLK2-
-
-
-
4GainND
TLL1p.M864L
Missense
SNP
0.503
2-ND
TLL2p.E608K
Missense
SNP
0.995
1LossND
TLR4-
-
-
-
1LossND
TLX1-
-
-
-
1LossND
TLX3-
-
-
-
3GainND
TM7SF2-
-
-
-
1LossND
TM9SF1-
-
-
-
3GainND
TM9SF3-
-
-
-
1LossND
TMC1-
-
-
-
1LossND
TMC3p.R923S
Missense
SNP
0.588
2-ND
TMC5p.R60K
Missense
SNP
0.543
2-ND
TMC6-
-
-
-
4GainND
TMC8-
-
-
-
4GainND
TMCO6-
-
-
-
3GainND
TMED10-
-
-
-
3GainND
TMED4-
-
-
-
3GainND
TMED7-
-
-
-
3GainND
TMED7-TICAM2-
-
-
-
3GainND
TMED8-
-
-
-
3GainND
TMED9-
-
-
-
3GainND
TMEFF1-
-
-
-
1LossND
TMEFF2p.R316Q
Missense
SNP
0.522
2-ND
TMEM100p.P25S
p.E8K
Missense
Missense
SNP
SNP
0.465
0.557
4GainND
TMEM101-
-
-
-
4GainND
TMEM104-
-
-
-
4GainND
TMEM105-
-
-
-
4GainND
TMEM106A-
-
-
-
4GainND
TMEM106B-
-
-
-
3GainND
TMEM109-
-
-
-
1LossND
TMEM120A-
-
-
-
3GainND
TMEM121-
-
-
-
3GainND
TMEM123-
-
-
-
1LossND
TMEM126A-
-
-
-
1LossND
TMEM126B-
-
-
-
1LossND
TMEM132A-
-
-
-
1LossND
TMEM132Bp.E809K
Missense
SNP
0.454
2-ND
TMEM132Cp.D1042N
Missense
SNP
0.554
2-ND
TMEM132Dp.E562K
Missense
SNP
0.446
2-ND
TMEM132E-
-
-
-
3GainND
TMEM134-
-
-
-
1LossND
TMEM135-
-
-
-
1LossND
TMEM136-
-
-
-
1LossND
TMEM138-
-
-
-
1LossND
TMEM139-
-
-
-
3GainND
TMEM140-
-
-
-
3GainND
TMEM141-
-
-
-
1LossND
TMEM151A-
-
-
-
1LossND
TMEM161B-
-
-
-
1LossND
TMEM167A-
-
-
-
1LossND
TMEM168-
-
-
-
3GainND
TMEM171-
-
-
-
1LossND
TMEM173-
-
-
-
3GainND
TMEM174-
-
-
-
1LossND
TMEM176A-
-
-
-
3GainND
TMEM176B-
-
-
-
3GainND
TMEM179-
-
-
-
3GainND
TMEM179B-
-
-
-
1LossND
TMEM184A-
-
-
-
3GainND
TMEM184B-
-
-
-
3GainND
TMEM191B-
-
-
-
3GainND
TMEM191C-
-
-
-
3GainND
TMEM196-
-
-
-
3GainND
TMEM199-
-
-
-
4GainND
TMEM203-
-
-
-
1LossND
TMEM209-
-
-
-
3GainND
TMEM210-
-
-
-
1LossND
TMEM211-
-
-
-
3GainND
TMEM215-
-
-
-
1LossND
TMEM216-
-
-
-
1LossND
TMEM218-
-
-
-
1LossND
TMEM223-
-
-
-
1LossND
TMEM225-
-
-
-
1LossND
TMEM229A-
-
-
-
3GainND
TMEM229B-
-
-
-
3GainND
TMEM232-
-
-
-
3GainND
TMEM235-
-
-
-
4GainND
TMEM236-
-
-
-
3GainND
TMEM245-
-
-
-
1LossND
TMEM246p.P204T
Missense
SNP
1.000
1LossND
TMEM248-
-
-
-
3GainND
TMEM25-
-
-
-
1LossND
TMEM250-
-
-
-
1LossND
TMEM251-
-
-
-
3GainND
TMEM252-
-
-
-
1LossND
TMEM253-
-
-
-
3GainND
TMEM254-
-
-
-
1LossND
TMEM258-
-
-
-
1LossND
TMEM26-
-
-
-
3GainND
TMEM260-
-
-
-
3GainND
TMEM262-
-
-
-
1LossND
TMEM267-
-
-
-
1LossND
TMEM268-
-
-
-
1LossND
TMEM273-
-
-
-
3GainND
TMEM30B-
-
-
-
3GainND
TMEM38B-
-
-
-
1LossND
TMEM41B-
-
-
-
1LossND
TMEM45B-
-
-
-
1LossND
TMEM56p.X102_splice
Splice_Site
SNP
0.645
2-ND
TMEM60-
-
-
-
3GainND
TMEM63A-
-
-
-
1LossND
TMEM63Cp.E319K
Missense
SNP
0.593
3GainND
TMEM67p.S926Y
Missense
SNP
0.410
2-ND
TMEM72-
-
-
-
3GainND
TMEM80-
-
-
-
1LossND
TMEM82p.S71F
Missense
SNP
0.509
2-ND
TMEM86A-
-
-
-
1LossND
TMEM92-
-
-
-
4GainND
TMEM94-
-
-
-
4GainND
TMEM97-
-
-
-
4GainND
TMEM98-
-
-
-
3GainND
TMEM99-
-
-
-
4GainND
TMEM9B-
-
-
-
1LossND
TMIGD1-
-
-
-
4GainND
TMOD1-
-
-
-
1LossND
TMPRSS11Bp.H52Y
Missense
SNP
0.532
2-ND
TMPRSS13-
-
-
-
1LossND
TMPRSS4-
-
-
-
1LossND
TMPRSS5-
-
-
-
1LossND
TMPRSS6-
-
-
-
3GainND
TMPRSS7p.P707L
Missense
SNP
0.339
2-ND
TMUB1-
-
-
-
3GainND
TMUB2-
-
-
-
4GainND
TMX1-
-
-
-
3GainND
TMX2-
-
-
-
1LossND
TMX2-CTNND1-
-
-
-
1LossND
TMX3-
-
-
-
1LossND
TNC-
-
-
-
1LossND
TNFAIP1-
-
-
-
4GainND
TNFAIP2-
-
-
-
3GainND
TNFAIP8-
-
-
-
3GainND
TNFRSF10Ap.G237R
Missense
SNP
0.453
2-ND
TNFRSF11A-
-
-
-
1LossND
TNFRSF13C-
-
-
-
3GainND
TNFSF15-
-
-
-
1LossND
TNFSF8-
-
-
-
1LossND
TNIP1-
-
-
-
3GainND
TNIP3p.G73E
Missense
SNP
0.536
2-ND
TNKS1BP1-
-
-
-
1LossND
TNKS2-
-
-
-
1LossND
TNNI2-
-
-
-
1LossND
TNNT3-
-
-
-
1LossND
TNPO1-
-
-
-
1LossND
TNPO3-
-
-
-
3GainND
TNRC6B-
-
-
-
3GainND
TNRC6C-
-
-
-
4GainND
TNS4p.R464K
Missense
SNP
0.475
4GainND
TOB1-
-
-
-
4GainND
TOB2-
-
-
-
3GainND
TOGARAM1-
-
-
-
3GainND
TOLLIP-
-
-
-
1LossND
TOM1-
-
-
-
3GainND
TOM1L1-
-
-
-
4GainND
TOMM20L-
-
-
-
3GainND
TOMM22-
-
-
-
3GainND
TOMM7-
-
-
-
3GainND
TOP2Ap.P1194S
Missense
SNP
0.317
4GainND
TOP3B-
-
-
-
3GainND
TOPORS-
-
-
-
1LossND
TOR1A-
-
-
-
1LossND
TOR1B-
-
-
-
1LossND
TOR2A-
-
-
-
1LossND
TOR4A-
-
-
-
1LossND
TOX3p.D93N
Missense
SNP
0.476
2-ND
TOX4-
-
-
-
3GainND
TP53AIP1-
-
-
-
1LossND
TP53I11-
-
-
-
1LossND
TP53I13-
-
-
-
4GainND
TP63p.H615Y
Missense
SNP
0.457
2-ND
TPBGL-
-
-
-
1LossND
TPCN2-
-
-
-
1LossND
TPD52L3-
-
-
-
1LossND
TPH1-
-
-
-
1LossND
TPK1-
-
-
-
3GainND
TPOp.E830K
Missense
SNP
0.499
2-ND
TPP1-
-
-
-
1LossND
TPPP-
-
-
-
1LossND
TPPP2-
-
-
-
3GainND
TPRN-
-
-
-
1LossND
TPST1-
-
-
-
3GainND
TPST2-
-
-
-
3GainND
TPTE2p.P234S
Missense
SNP
0.453
2-ND
TPTEP2-CSNK1E-
-
-
-
3GainND
TRA2A-
-
-
-
3GainND
TRABDp.S290F
Missense
SNP
0.329
3GainND
TRAF1-
-
-
-
1LossND
TRAF2-
-
-
-
1LossND
TRAF3-
-
-
-
3GainND
TRAF4-
-
-
-
4GainND
TRAF6-
-
-
-
1LossND
TRAK1p.P370L
Missense
SNP
0.463
2-ND
TRANK1p.M2650I
Missense
SNP
0.488
2-ND
TRAPPC13-
-
-
-
1LossND
TRAPPC4-
-
-
-
1LossND
TRAPPC6B-
-
-
-
3GainND
TRAV19p.S94F
Missense
SNP
0.667
NDNDND
TRDMT1-
-
-
-
3GainND
TRDV1-
-
-
-
3GainND
TREH-
-
-
-
1LossND
TREM1p.D182N
Missense
SNP
0.469
2-ND
TRERF1p.S387N
Missense
SNP
0.545
2-ND
TRHDEp.S268L
Missense
SNP
0.413
2-ND
TRIL-
-
-
-
3GainND
TRIM11-
-
-
-
1LossND
TRIM14-
-
-
-
1LossND
TRIM17-
-
-
-
1LossND
TRIM21-
-
-
-
1LossND
TRIM22-
-
-
-
1LossND
TRIM23-
-
-
-
1LossND
TRIM24p.R391C
Missense
SNP
0.266
2-ND
TRIM25-
-
-
-
4GainND
TRIM29-
-
-
-
1LossND
TRIM3-
-
-
-
1LossND
TRIM32-
-
-
-
1LossND
TRIM36-
-
-
-
3GainND
TRIM37-
-
-
-
4GainND
TRIM41-
-
-
-
3GainND
TRIM42p.E207K
Missense
SNP
0.499
2-ND
TRIM44-
-
-
-
1LossND
TRIM47-
-
-
-
4GainND
TRIM48-
-
-
-
1LossND
TRIM49-
-
-
-
1LossND
TRIM49B-
-
-
-
1LossND
TRIM49C-
-
-
-
1LossND
TRIM49D1-
-
-
-
1LossND
TRIM49D2-
-
-
-
1LossND
TRIM5-
-
-
-
1LossND
TRIM51-
-
-
-
1LossND
TRIM51GP-
-
-
-
1LossND
TRIM52-
-
-
-
3GainND
TRIM56-
-
-
-
3GainND
TRIM6-
-
-
-
1LossND
TRIM6-TRIM34-
-
-
-
1LossND
TRIM64B-
-
-
-
1LossND
TRIM64C-
-
-
-
1LossND
TRIM65-
-
-
-
4GainND
TRIM66-
-
-
-
1LossND
TRIM68-
-
-
-
1LossND
TRIM7-
-
-
-
3GainND
TRIM73-
-
-
-
3GainND
TRIM77-
-
-
-
1LossND
TRIM8-
-
-
-
1LossND
TRIM9p.R587C
Missense
SNP
0.321
3GainND
TRIO-
-
-
-
1LossND
TRIOBP-
-
-
-
3GainND
TRIP11p.S659L
Missense
SNP
0.625
3GainND
TRIP13-
-
-
-
1LossND
TRIP6-
-
-
-
3GainND
TRMO-
-
-
-
1LossND
TRMT112-
-
-
-
1LossND
TRMT2A-
-
-
-
3GainND
TRMT5-
-
-
-
3GainND
TRMT61A-
-
-
-
3GainND
TRMU-
-
-
-
3GainND
TRPC1p.R218Q
Missense
SNP
0.521
2-ND
TRPC3p.E890K
Missense
SNP
0.485
2-ND
TRPC4p.P341S
Missense
SNP
0.602
2-ND
TRPC6p.S217F
Missense
SNP
1.000
1LossND
TRPC7-
-
-
-
3GainND
TRPM3-
-
-
-
1LossND
TRPM5-
-
-
-
1LossND
TRPM6-
-
-
-
1LossND
TRPT1-
-
-
-
1LossND
TRPV5-
-
-
-
3GainND
TRPV6-
-
-
-
3GainND
TRRAPp.P2654L
Missense
SNP
0.693
2-ND
TRUB1-
-
-
-
1LossND
TRUB2-
-
-
-
1LossND
TSC1-
-
-
-
1LossND
TSC2p.S1433L
Missense
SNP
0.489
2-ND
TSC22D1p.L618I
Missense
SNP
0.432
2-ND
TSC22D4-
-
-
-
3GainND
TSEN2p.V210M
Missense
SNP
0.472
2-ND
TSEN54-
-
-
-
4GainND
TSG101-
-
-
-
1LossND
TSGA10IP-
-
-
-
1LossND
TSGA13-
-
-
-
3GainND
TSHR-
-
-
-
3GainND
TSHZ1-
-
-
-
1LossND
TSHZ2p.E471K
Missense
SNP
0.461
2-ND
TSKU-
-
-
-
1LossND
TSLP-
-
-
-
3GainND
TSPAN10-
-
-
-
4GainND
TSPAN12-
-
-
-
3GainND
TSPAN13-
-
-
-
3GainND
TSPAN14-
-
-
-
1LossND
TSPAN15-
-
-
-
3GainND
TSPAN17-
-
-
-
3GainND
TSPAN18-
-
-
-
1LossND
TSPAN2p.R215Q
p.R37W
Missense
Missense
SNP
SNP
0.509
0.355
2-ND
TSPAN32-
-
-
-
1LossND
TSPAN33-
-
-
-
3GainND
TSPAN4-
-
-
-
1LossND
TSPO-
-
-
-
3GainND
TSPOAP1-
-
-
-
4GainND
TSSC4-
-
-
-
1LossND
TSSK1B-
-
-
-
3GainND
TSSK2-
-
-
-
3GainND
TSSK4-
-
-
-
3GainND
TST-
-
-
-
3GainND
TSTD2-
-
-
-
1LossND
TTC1-
-
-
-
3GainND
TTC12-
-
-
-
1LossND
TTC16-
-
-
-
1LossND
TTC17-
-
-
-
1LossND
TTC23L-
-
-
-
1LossND
TTC25-
-
-
-
4GainND
TTC28-
-
-
-
3GainND
TTC33-
-
-
-
1LossND
TTC36-
-
-
-
1LossND
TTC37-
-
-
-
1LossND
TTC38-
-
-
-
3GainND
TTC39B-
-
-
-
1LossND
TTC39Cp.P247S
Missense
SNP
0.558
2-ND
TTC5-
-
-
-
3GainND
TTC6-
-
-
-
3GainND
TTC7B-
-
-
-
3GainND
TTC8-
-
-
-
3GainND
TTC9-
-
-
-
3GainND
TTC9C-
-
-
-
1LossND
TTF1-
-
-
-
1LossND
TTLL1-
-
-
-
3GainND
TTLL11-
-
-
-
1LossND
TTLL12-
-
-
-
3GainND
TTLL2p.D227N
Missense
SNP
0.472
2-ND
TTLL5-
-
-
-
3GainND
TTLL6-
-
-
-
4GainND
TTLL8-
-
-
-
3GainND
TTNp.E16897K
p.G8657R
p.R7441Q
p.E5706K
p.S5517L
p.A4699V
p.E2571K
p.X2532_splice
Missense
Missense
Missense
Missense
Missense
Missense
Missense
Splice_Site
SNP
SNP
SNP
SNP
SNP
SNP
SNP
SNP
0.482
0.586
0.473
0.500
0.478
0.512
0.500
0.382
2-ND
TTYH2-
-
-
-
4GainND
TTYH3-
-
-
-
3GainND
TUB-
-
-
-
1LossND
TUBA3Dp.G354D
Missense
SNP
0.405
2-ND
TUBA8-
-
-
-
3GainND
TUBAL3-
-
-
-
3GainND
TUBB4B-
-
-
-
1LossND
TUBB8-
-
-
-
3GainND
TUBD1-
-
-
-
4GainND
TUBG1-
-
-
-
4GainND
TUBG2-
-
-
-
4GainND
TUBGCP2-
-
-
-
1LossND
TUBGCP6-
-
-
-
3GainND
TUSC1-
-
-
-
1LossND
TUT1-
-
-
-
1LossND
TUT7-
-
-
-
1LossND
TWIST1-
-
-
-
3GainND
TWISTNB-
-
-
-
3GainND
TWNK-
-
-
-
1LossND
TXN-
-
-
-
1LossND
TXN2-
-
-
-
3GainND
TXNDC11p.S525F
Missense
SNP
0.454
2-ND
TXNDC15-
-
-
-
3GainND
TXNDC16-
-
-
-
3GainND
TXNDC8-
-
-
-
1LossND
TXNL1-
-
-
-
1LossND
TXNL4A-
-
-
-
1LossND
TXNRD2-
-
-
-
3GainND
TYMP-
-
-
-
3GainND
TYR-
-
-
-
1LossND
TYRP1-
-
-
-
1LossND
TYSND1-
-
-
-
3GainND
TYW1-
-
-
-
3GainND
UAP1L1-
-
-
-
1LossND
UBAC1-
-
-
-
1LossND
UBALD2-
-
-
-
4GainND
UBAP2p.R466*
Nonsense
SNP
0.382
2-ND
UBASH3B-
-
-
-
1LossND
UBE2B-
-
-
-
3GainND
UBE2D1-
-
-
-
3GainND
UBE2D2-
-
-
-
3GainND
UBE2D4-
-
-
-
3GainND
UBE2H-
-
-
-
3GainND
UBE2L3-
-
-
-
3GainND
UBE2L6-
-
-
-
1LossND
UBE2O-
-
-
-
4GainND
UBE2QL1-
-
-
-
1LossND
UBE2Z-
-
-
-
4GainND
UBE3C-
-
-
-
3GainND
UBE4A-
-
-
-
1LossND
UBLCP1-
-
-
-
3GainND
UBQLN1-
-
-
-
1LossND
UBQLN3-
-
-
-
1LossND
UBQLNL-
-
-
-
1LossND
UBR7-
-
-
-
3GainND
UBTD1-
-
-
-
1LossND
UBTD2-
-
-
-
3GainND
UBTF-
-
-
-
4GainND
UBTFL1-
-
-
-
1LossND
UBXN1-
-
-
-
1LossND
UCHL1p.A100T
Missense
SNP
0.510
2-ND
UCK1-
-
-
-
1LossND
UCMA-
-
-
-
3GainND
UCN3-
-
-
-
3GainND
UCP2-
-
-
-
1LossND
UCP3-
-
-
-
1LossND
UEVLD-
-
-
-
1LossND
UFD1-
-
-
-
3GainND
UFSP1-
-
-
-
3GainND
UGCG-
-
-
-
1LossND
UGT2A3p.P186S
Missense
SNP
0.507
2-ND
UGT2B4p.E45K
Missense
SNP
0.526
2-ND
UGT3A1p.G176R
Missense
SNP
1.000
1LossND
UGT3A2-
-
-
-
1LossND
UHRF2-
-
-
-
1LossND
UIMC1-
-
-
-
3GainND
ULBP3p.D113N
Missense
SNP
0.456
2-ND
UMAD1-
-
-
-
3GainND
UNC119-
-
-
-
4GainND
UNC13Cp.S206F
p.E1701K
Missense
Missense
SNP
SNP
0.516
0.468
2-ND
UNC13D-
-
-
-
4GainND
UNC45B-
-
-
-
3GainND
UNC5A-
-
-
-
3GainND
UNC5B-
-
-
-
3GainND
UNC5Cp.G598E
Missense
SNP
0.602
2-ND
UNC5Dp.E90K
Missense
SNP
0.423
2-ND
UNC79p.G668E
Missense
SNP
0.351
3GainND
UNC80p.R1802K
Missense
SNP
0.542
2-ND
UNC93B1-
-
-
-
1LossND
UNCX-
-
-
-
3GainND
UNK-
-
-
-
4GainND
UPB1-
-
-
-
3GainND
UPF2-
-
-
-
3GainND
UPK1Bp.R9C
Missense
SNP
0.548
2-ND
UPK2-
-
-
-
1LossND
UPK3A-
-
-
-
3GainND
UPK3B-
-
-
-
3GainND
UPK3BL1-
-
-
-
3GainND
UQCC3-
-
-
-
1LossND
UQCR10-
-
-
-
3GainND
UQCRQ-
-
-
-
3GainND
URGCP-
-
-
-
3GainND
URGCP-MRPS24-
-
-
-
3GainND
URM1-
-
-
-
1LossND
UROS-
-
-
-
1LossND
USH1C-
-
-
-
1LossND
USH1G-
-
-
-
4GainND
USH2Ap.G4201E
Missense
SNP
1.000
2-ND
USP18-
-
-
-
3GainND
USP2-
-
-
-
1LossND
USP20-
-
-
-
1LossND
USP28-
-
-
-
1LossND
USP32-
-
-
-
4GainND
USP35-
-
-
-
1LossND
USP36-
-
-
-
4GainND
USP4p.P384L
Missense
SNP
0.543
2-ND
USP41-
-
-
-
3GainND
USP42-
-
-
-
3GainND
USP47-
-
-
-
1LossND
USP50p.E202K
Missense
SNP
0.599
2-ND
USP53p.P273S
Missense
SNP
0.593
2-ND
USP54-
-
-
-
3GainND
USP6p.G962E
Missense
SNP
1.000
2-ND
USP6NL-
-
-
-
3GainND
USP7p.H1072Y
Missense
SNP
0.458
2-ND
USP9Xp.P1819S
Missense
SNP
1.000
NDNDND
UTF1-
-
-
-
1LossND
UTP15-
-
-
-
1LossND
UTP18-
-
-
-
4GainND
UTP20p.R2067*
Nonsense
SNP
0.477
2-ND
UTP4p.R312C
Missense
SNP
0.518
2-ND
UTP6-
-
-
-
4GainND
UTS2R-
-
-
-
4GainND
UVRAG-
-
-
-
1LossND
VAC14p.S204L
Missense
SNP
0.497
2-ND
VASH1-
-
-
-
3GainND
VAT1-
-
-
-
4GainND
VAV2-
-
-
-
1LossND
VAX1-
-
-
-
1LossND
VCANp.M525I
Missense
SNP
1.000
1LossND
VCL-
-
-
-
3GainND
VCPKMT-
-
-
-
3GainND
VDAC1-
-
-
-
3GainND
VDAC2-
-
-
-
3GainND
VEGFB-
-
-
-
1LossND
VENTX-
-
-
-
1LossND
VEZF1-
-
-
-
4GainND
VGF-
-
-
-
3GainND
VIM-
-
-
-
3GainND
VIPAS39-
-
-
-
3GainND
VKORC1L1-
-
-
-
3GainND
VLDLR-
-
-
-
1LossND
VMP1-
-
-
-
4GainND
VPREB1-
-
-
-
3GainND
VPREB3-
-
-
-
3GainND
VPS11-
-
-
-
1LossND
VPS13A-
-
-
-
1LossND
VPS13Bp.P1908H
Missense
SNP
0.549
2-ND
VPS13Dp.P3515S
Missense
SNP
0.397
2-ND
VPS25-
-
-
-
4GainND
VPS26A-
-
-
-
3GainND
VPS26B-
-
-
-
1LossND
VPS37C-
-
-
-
1LossND
VPS41-
-
-
-
3GainND
VPS4B-
-
-
-
1LossND
VPS51-
-
-
-
1LossND
VRK1-
-
-
-
3GainND
VRTNp.G482R
Missense
SNP
0.629
3GainND
VSIG10L2-
-
-
-
1LossND
VSIG2-
-
-
-
1LossND
VSIR-
-
-
-
3GainND
VSTM4-
-
-
-
3GainND
VSTM5-
-
-
-
1LossND
VSX2p.M183I
Missense
SNP
0.421
3GainND
VTI1A-
-
-
-
1LossND
VTI1B-
-
-
-
3GainND
VTN-
-
-
-
4GainND
VWA2-
-
-
-
1LossND
VWA3Ap.E372K
Missense
SNP
0.555
2-ND
VWA5A-
-
-
-
1LossND
VWA5B1p.S148F
Missense
SNP
0.557
2-ND
VWC2Lp.R66Q
Missense
SNP
0.435
2-ND
VWCE-
-
-
-
1LossND
VWDE-
-
-
-
3GainND
VWFp.P514L
Missense
SNP
0.515
2-ND
WAC-
-
-
-
3GainND
WAPL-
-
-
-
1LossND
WARSp.Q284*
Nonsense
SNP
0.604
3GainND
WASHC2A-
-
-
-
3GainND
WASHC2C-
-
-
-
3GainND
WASL-
-
-
-
3GainND
WBP1L-
-
-
-
1LossND
WBP2-
-
-
-
4GainND
WBP2NLp.G97E
Missense
SNP
0.331
3GainND
WDFY4p.R644Q
p.E726K
Missense
Missense
SNP
SNP
0.243
0.604
3GainND
WDHD1-
-
-
-
3GainND
WDR11-
-
-
-
1LossND
WDR19p.R43C
Missense
SNP
0.583
2-ND
WDR20-
-
-
-
3GainND
WDR25-
-
-
-
3GainND
WDR26-
-
-
-
1LossND
WDR31-
-
-
-
1LossND
WDR33p.S190L
Missense
SNP
0.475
2-ND
WDR34-
-
-
-
1LossND
WDR36-
-
-
-
3GainND
WDR37-
-
-
-
3GainND
WDR38-
-
-
-
1LossND
WDR41-
-
-
-
1LossND
WDR45B-
-
-
-
4GainND
WDR5-
-
-
-
1LossND
WDR55-
-
-
-
3GainND
WDR7-
-
-
-
1LossND
WDR70-
-
-
-
1LossND
WDR74-
-
-
-
1LossND
WDR86-
-
-
-
3GainND
WDR89-
-
-
-
3GainND
WDR91-
-
-
-
3GainND
WDR93p.V64M
Missense
SNP
0.361
2-ND
WEE1-
-
-
-
1LossND
WFDC11p.E36K
Missense
SNP
0.520
2-ND
WFIKKN2-
-
-
-
4GainND
WHRN-
-
-
-
1LossND
WHSC1p.P855L
Missense
SNP
0.453
NDNDND
WIPF2-
-
-
-
4GainND
WIPF3-
-
-
-
3GainND
WIPI1-
-
-
-
3GainND
WNK2p.S1330L
Missense
SNP
1.000
1LossND
WNK4-
-
-
-
4GainND
WNT11-
-
-
-
1LossND
WNT16-
-
-
-
3GainND
WNT2-
-
-
-
3GainND
WNT3-
-
-
-
4GainND
WNT3A-
-
-
-
1LossND
WNT6p.G179E
Missense
SNP
0.403
2-ND
WNT7B-
-
-
-
3GainND
WNT8A-
-
-
-
3GainND
WNT8B-
-
-
-
1LossND
WNT9A-
-
-
-
1LossND
WNT9Bp.D80N
Missense
SNP
0.490
4GainND
WSB1-
-
-
-
4GainND
WT1p.S299F
Missense
SNP
1.000
1LossND
WWC1-
-
-
-
3GainND
XBP1-
-
-
-
3GainND
XIRP2p.S470F
p.E697K
p.M1190I
p.T2120I
p.G3040E
p.G3382E
Missense
Missense
Missense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
SNP
SNP
0.446
0.524
0.401
0.516
0.505
0.467
2-ND
XKR7p.E574K
Missense
SNP
0.474
2-ND
XPA-
-
-
-
1LossND
XPNPEP1-
-
-
-
1LossND
XPNPEP3-
-
-
-
3GainND
XRCC2-
-
-
-
3GainND
XRCC3-
-
-
-
3GainND
XRCC4-
-
-
-
1LossND
XRCC6-
-
-
-
3GainND
XRRA1-
-
-
-
1LossND
XYLT2-
-
-
-
4GainND
YAE1-
-
-
-
3GainND
YAP1-
-
-
-
1LossND
YDJC-
-
-
-
3GainND
YIF1A-
-
-
-
1LossND
YIPF5-
-
-
-
3GainND
YKT6-
-
-
-
3GainND
YLPM1-
-
-
-
3GainND
YME1L1-
-
-
-
3GainND
YPEL1-
-
-
-
3GainND
YPEL2-
-
-
-
4GainND
YPEL4-
-
-
-
1LossND
YTHDC2-
-
-
-
3GainND
YTHDF1p.Q117*
Nonsense
SNP
0.433
2-ND
YWHAG-
-
-
-
3GainND
YWHAH-
-
-
-
3GainND
YY1-
-
-
-
3GainND
Z82190.2-
-
-
-
3GainND
Z83844.1-
-
-
-
3GainND
Z83844.3-
-
-
-
3GainND
ZACN-
-
-
-
4GainND
ZADH2-
-
-
-
1LossND
ZANp.R1657C
Missense
SNP
0.762
3GainND
ZBED3-
-
-
-
1LossND
ZBED4-
-
-
-
3GainND
ZBED5-
-
-
-
1LossND
ZBED6CL-
-
-
-
3GainND
ZBED8-
-
-
-
3GainND
ZBTB1-
-
-
-
3GainND
ZBTB16p.R285Q
Missense
SNP
1.000
1LossND
ZBTB20-
-
-
-
1LossND
ZBTB25-
-
-
-
3GainND
ZBTB26-
-
-
-
1LossND
ZBTB3-
-
-
-
1LossND
ZBTB34-
-
-
-
1LossND
ZBTB42-
-
-
-
3GainND
ZBTB43-
-
-
-
1LossND
ZBTB44-
-
-
-
1LossND
ZBTB6-
-
-
-
1LossND
ZC2HC1Ap.R82S
Missense
SNP
0.438
2-ND
ZC2HC1C-
-
-
-
3GainND
ZC3H12Bp.R88C
Missense
SNP
1.000
NDNDND
ZC3H12C-
-
-
-
1LossND
ZC3H14-
-
-
-
3GainND
ZC3H7B-
-
-
-
3GainND
ZC3HC1-
-
-
-
3GainND
ZC4H2p.M76I
Missense
SNP
1.000
NDNDND
ZCCHC10-
-
-
-
3GainND
ZCCHC2p.S915F
Missense
SNP
0.704
1LossND
ZCCHC24-
-
-
-
1LossND
ZCCHC9-
-
-
-
1LossND
ZCWPW1-
-
-
-
3GainND
ZDHHC11-
-
-
-
1LossND
ZDHHC11B-
-
-
-
1LossND
ZDHHC12-
-
-
-
1LossND
ZDHHC13-
-
-
-
1LossND
ZDHHC16-
-
-
-
1LossND
ZDHHC21-
-
-
-
1LossND
ZDHHC22-
-
-
-
3GainND
ZDHHC24-
-
-
-
1LossND
ZDHHC4-
-
-
-
3GainND
ZDHHC5-
-
-
-
1LossND
ZDHHC6-
-
-
-
1LossND
ZDHHC8-
-
-
-
3GainND
ZEB1-
-
-
-
3GainND
ZEB2p.P591S
Missense
SNP
0.450
2-ND
ZER1-
-
-
-
1LossND
ZFAND2A-
-
-
-
3GainND
ZFAND4-
-
-
-
3GainND
ZFAND5-
-
-
-
1LossND
ZFHX2-
-
-
-
3GainND
ZFHX4p.E1474K
Missense
SNP
0.379
2-ND
ZFP2-
-
-
-
3GainND
ZFP30p.H368Y
Missense
SNP
0.995
2-ND
ZFP36L1-
-
-
-
3GainND
ZFP37-
-
-
-
1LossND
ZFP62-
-
-
-
3GainND
ZFP91-
-
-
-
1LossND
ZFP91-CNTF-
-
-
-
1LossND
ZFPL1-
-
-
-
1LossND
ZFR-
-
-
-
1LossND
ZFYVE1-
-
-
-
3GainND
ZFYVE16-
-
-
-
1LossND
ZFYVE21-
-
-
-
3GainND
ZFYVE26-
-
-
-
3GainND
ZFYVE27-
-
-
-
1LossND
ZIC2p.P336L
Missense
SNP
0.577
2-ND
ZKSCAN2p.R762C
Missense
SNP
0.538
2-ND
ZKSCAN7-
-
-
-
1LossND
ZMAT2-
-
-
-
3GainND
ZMAT5-
-
-
-
3GainND
ZMIZ1-
-
-
-
1LossND
ZMIZ2-
-
-
-
3GainND
ZMYM6p.H225Y
Missense
SNP
0.489
2-ND
ZMYND11-
-
-
-
3GainND
ZMYND19-
-
-
-
1LossND
ZNF10p.P85S
p.Q227*
Missense
Nonsense
SNP
SNP
0.583
0.462
2-ND
ZNF107-
-
-
-
3GainND
ZNF117-
-
-
-
3GainND
ZNF12-
-
-
-
3GainND
ZNF131-
-
-
-
1LossND
ZNF138-
-
-
-
3GainND
ZNF143-
-
-
-
1LossND
ZNF169-
-
-
-
1LossND
ZNF189-
-
-
-
1LossND
ZNF195-
-
-
-
1LossND
ZNF197-
-
-
-
1LossND
ZNF202-
-
-
-
1LossND
ZNF207-
-
-
-
3GainND
ZNF212-
-
-
-
3GainND
ZNF214-
-
-
-
1LossND
ZNF215-
-
-
-
1LossND
ZNF219-
-
-
-
3GainND
ZNF22-
-
-
-
3GainND
ZNF236-
-
-
-
1LossND
ZNF239-
-
-
-
3GainND
ZNF248-
-
-
-
3GainND
ZNF25-
-
-
-
3GainND
ZNF273-
-
-
-
3GainND
ZNF277-
-
-
-
3GainND
ZNF280A-
-
-
-
3GainND
ZNF280B-
-
-
-
3GainND
ZNF282-
-
-
-
3GainND
ZNF300-
-
-
-
3GainND
ZNF316-
-
-
-
3GainND
ZNF32-
-
-
-
3GainND
ZNF33A-
-
-
-
3GainND
ZNF33B-
-
-
-
3GainND
ZNF346-
-
-
-
3GainND
ZNF347p.R442C
Missense
SNP
1.000
2-ND
ZNF35-
-
-
-
1LossND
ZNF354A-
-
-
-
3GainND
ZNF354B-
-
-
-
3GainND
ZNF354C-
-
-
-
3GainND
ZNF365-
-
-
-
3GainND
ZNF366p.D373N
Missense
SNP
1.000
1LossND
ZNF367-
-
-
-
1LossND
ZNF37A-
-
-
-
3GainND
ZNF382p.H514Y
Missense
SNP
1.000
2-ND
ZNF385C-
-
-
-
4GainND
ZNF398-
-
-
-
3GainND
ZNF407-
-
-
-
1LossND
ZNF408p.R475Q
Missense
SNP
1.000
1LossND
ZNF410-
-
-
-
3GainND
ZNF425-
-
-
-
3GainND
ZNF438-
-
-
-
3GainND
ZNF445p.H858Y
Missense
SNP
0.485
2-ND
ZNF454-
-
-
-
3GainND
ZNF462-
-
-
-
1LossND
ZNF467-
-
-
-
3GainND
ZNF469p.P2264L
Missense
SNP
0.520
2-ND
ZNF471p.S89F
Missense
SNP
1.000
2-ND
ZNF474-
-
-
-
3GainND
ZNF479p.H459Y
Missense
SNP
0.247
2-ND
ZNF483-
-
-
-
1LossND
ZNF484-
-
-
-
1LossND
ZNF485-
-
-
-
3GainND
ZNF487-
-
-
-
3GainND
ZNF488-
-
-
-
3GainND
ZNF500p.P324L
Missense
SNP
0.491
2-ND
ZNF501-
-
-
-
1LossND
ZNF502-
-
-
-
1LossND
ZNF503-
-
-
-
3GainND
ZNF510-
-
-
-
1LossND
ZNF511-
-
-
-
1LossND
ZNF511-PRAP1-
-
-
-
1LossND
ZNF516-
-
-
-
1LossND
ZNF518A-
-
-
-
1LossND
ZNF527p.P273S
Missense
SNP
0.986
2-ND
ZNF532-
-
-
-
1LossND
ZNF534p.H277Y
Missense
SNP
0.889
2-ND
ZNF536p.S63F
p.D836V
p.S1129F
Missense
Missense
Missense
SNP
SNP
SNP
1.000
1.000
1.000
2-ND
ZNF573p.G398D
Missense
SNP
0.981
2-ND
ZNF599p.R524W
Missense
SNP
0.990
2-ND
ZNF608-
-
-
-
3GainND
ZNF618-
-
-
-
1LossND
ZNF622-
-
-
-
1LossND
ZNF623p.E295K
Missense
SNP
0.536
2-ND
ZNF638p.S1934F
Missense
SNP
0.471
2-ND
ZNF652-
-
-
-
4GainND
ZNF658-
-
-
-
1LossND
ZNF660-
-
-
-
1LossND
ZNF678p.S34F
Missense
SNP
1.000
1LossND
ZNF679p.E411K
Missense
SNP
0.198
3GainND
ZNF680-
-
-
-
3GainND
ZNF70-
-
-
-
3GainND
ZNF716p.G14E
p.E495K
Missense
Missense
SNP
SNP
0.657
0.754
2-ND
ZNF721p.Q82*
Nonsense
SNP
0.340
2-ND
ZNF727-
-
-
-
3GainND
ZNF732p.E253K
Missense
SNP
0.485
2-ND
ZNF735p.G116E
p.R261K
Missense
Missense
SNP
SNP
0.698
0.713
3GainND
ZNF736-
-
-
-
3GainND
ZNF74-
-
-
-
3GainND
ZNF746-
-
-
-
3GainND
ZNF750-
-
-
-
4GainND
ZNF773p.R378*
Nonsense
SNP
1.000
2-ND
ZNF775-
-
-
-
3GainND
ZNF777-
-
-
-
3GainND
ZNF782-
-
-
-
1LossND
ZNF783-
-
-
-
3GainND
ZNF786-
-
-
-
3GainND
ZNF79-
-
-
-
1LossND
ZNF793p.S319L
Missense
SNP
1.000
2-ND
ZNF80-
-
-
-
1LossND
ZNF800-
-
-
-
3GainND
ZNF804Bp.H729Y
p.G918E
Missense
Missense
SNP
SNP
0.716
0.290
2-ND
ZNF830-
-
-
-
3GainND
ZNF831p.R1217Q
Missense
SNP
0.417
2-ND
ZNF839-
-
-
-
3GainND
ZNF852-
-
-
-
1LossND
ZNF853-
-
-
-
3GainND
ZNF862-
-
-
-
3GainND
ZNF879-
-
-
-
3GainND
ZNF883-
-
-
-
1LossND
ZNF90p.G59E
Missense
SNP
0.991
2-ND
ZNF92-
-
-
-
3GainND
ZNF99p.S816F
p.G142E
Missense
Missense
SNP
SNP
0.983
1.000
2-ND
ZNHIT1-
-
-
-
3GainND
ZNHIT2-
-
-
-
1LossND
ZNHIT3-
-
-
-
3GainND
ZNRF2-
-
-
-
3GainND
ZNRF3-
-
-
-
3GainND
ZP1-
-
-
-
1LossND
ZP3-
-
-
-
3GainND
ZPBP2-
-
-
-
4GainND
ZPLD1p.S392L
Missense
SNP
0.416
2-ND
ZPR1-
-
-
-
1LossND
ZRANB1-
-
-
-
1LossND
ZSCAN18p.E539K
Missense
SNP
1.000
2-ND
ZSCAN20p.P167S
Missense
SNP
0.532
2-ND
ZSCAN23p.R48C
Missense
SNP
0.525
2-ND
ZSWIM6-
-
-
-
1LossND
ZSWIM8-
-
-
-
3GainND
ZW10-
-
-
-
1LossND
ZWINT-
-
-
-
3GainND
ZYX-
-
-
-
3GainND