PDMR-817829~284-R~KXQPA1-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BG-
-
-
-
3Gain-
A2M-
-
-
-
3Gain-
A2ML1-
-
-
-
3Gain-
AAAS-
-
-
-
3Gain-
AACS-
-
-
-
3Gain-
AASS-
-
-
-
3Gain-
ABCA13-
-
-
-
3Gain-
ABCA4p.N444K
Missense
SNP
0.438
2--
ABCB1-
-
-
-
3Gain-
ABCB4-
-
-
-
3Gain-
ABCB5-
-
-
-
3Gain-
ABCB8-
-
-
-
3Gain-
ABCB9-
-
-
-
3Gain-
ABCC1p.D904G
Missense
SNP
0.466
2--
ABCC2p.S821G
p.L1183M
Missense
Missense
SNP
SNP
0.469
0.511
2--
ABCC6p.A1083T
Missense
SNP
0.502
2--
ABCC9p.R304H
Missense
SNP
0.273
3Gain-
ABCD1p.S161L
Missense
SNP
0.482
NDND-
ABCD2-
-
-
-
3Gain-
ABCF2-
-
-
-
3Gain-
ABCG1p.Q563*
Nonsense
SNP
0.504
2--
ABHD11-
-
-
-
3Gain-
ABLIM1p.L208R
Missense
SNP
0.433
2--
AC000120.2-
-
-
-
3Gain-
AC000120.3-
-
-
-
3Gain-
AC002996.1-
-
-
-
3Gain-
AC003002.1-
-
-
-
3Gain-
AC003002.2-
-
-
-
3Gain-
AC003002.3-
-
-
-
3Gain-
AC003005.1-
-
-
-
3Gain-
AC003006.1-
-
-
-
3Gain-
AC004076.1-
-
-
-
3Gain-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004691.2-
-
-
-
3Gain-
AC004922.1-
-
-
-
3Gain-
AC005020.2-
-
-
-
3Gain-
AC005154.5-
-
-
-
3Gain-
AC005779.2-
-
-
-
3Gain-
AC005832.4-
-
-
-
3Gain-
AC005833.1-
-
-
-
3Gain-
AC006064.6-
-
-
-
3Gain-
AC006486.1-
-
-
-
3Gain-
AC006518.7-
-
-
-
3Gain-
AC006978.2-
-
-
-
3Gain-
AC008012.1-
-
-
-
3Gain-
AC008403.1-
-
-
-
3Gain-
AC008537.1-
-
-
-
3Gain-
AC008687.1-
-
-
-
3Gain-
AC008687.4-
-
-
-
3Gain-
AC008687.8-
-
-
-
3Gain-
AC008750.8-
-
-
-
3Gain-
AC008982.1-
-
-
-
3Gain-
AC010132.3-
-
-
-
3Gain-
AC010197.2-
-
-
-
3Gain-
AC010325.1-
-
-
-
3Gain-
AC010326.2-
-
-
-
3Gain-
AC010327.1-
-
-
-
3Gain-
AC010487.3-
-
-
-
3Gain-
AC010522.1-
-
-
-
3Gain-
AC010616.1-
-
-
-
3Gain-
AC010616.2-
-
-
-
3Gain-
AC010619.1-
-
-
-
3Gain-
AC011005.1-
-
-
-
3Gain-
AC011452.1-
-
-
-
3Gain-
AC011455.2-
-
-
-
3Gain-
AC011462.1-
-
-
-
3Gain-
AC011473.4-
-
-
-
3Gain-
AC011479.1-
-
-
-
3Gain-
AC011530.1-
-
-
-
3Gain-
AC011604.2-
-
-
-
3Gain-
AC012309.1-
-
-
-
3Gain-
AC012531.2-
-
-
-
3Gain-
AC013264.1p.T750A
Missense
SNP
0.482
NDND-
AC018755.2-
-
-
-
3Gain-
AC019117.2-
-
-
-
3Gain-
AC020907.6-
-
-
-
3Gain-
AC020909.1-
-
-
-
3Gain-
AC020915.1-
-
-
-
3Gain-
AC020915.5-
-
-
-
3Gain-
AC020922.1-
-
-
-
3Gain-
AC021097.2-
-
-
-
3Gain-
AC021097.3-
-
-
-
3Gain-
AC022335.1-
-
-
-
3Gain-
AC023055.1-
-
-
-
3Gain-
AC023509.3-
-
-
-
3Gain-
AC025165.3-
-
-
-
3Gain-
AC025263.2-
-
-
-
3Gain-
AC026786.1-
-
-
-
3Gain-
AC027644.4-
-
-
-
3Gain-
AC034102.2-
-
-
-
3Gain-
AC048338.1-
-
-
-
3Gain-
AC067968.1-
-
-
-
3Gain-
AC068533.4-
-
-
-
3Gain-
AC068775.1-
-
-
-
3Gain-
AC069503.2-
-
-
-
3Gain-
AC073111.3-
-
-
-
3Gain-
AC073111.5-
-
-
-
3Gain-
AC073610.2-
-
-
-
3Gain-
AC073610.3-
-
-
-
3Gain-
AC073612.1-
-
-
-
3Gain-
AC073896.1-
-
-
-
3Gain-
AC078927.1-
-
-
-
3Gain-
AC092073.1-
-
-
-
3Gain-
AC092111.3-
-
-
-
3Gain-
AC092647.5-
-
-
-
3Gain-
AC093227.2-
-
-
-
3Gain-
AC093668.1-
-
-
-
3Gain-
AC093668.2-
-
-
-
3Gain-
AC093668.3-
-
-
-
3Gain-
AC097104.1-
-
-
-
3Gain-
AC105052.1-
-
-
-
3Gain-
AC105052.3-
-
-
-
3Gain-
AC115220.1-
-
-
-
3Gain-
AC117378.1-
-
-
-
3Gain-
AC137834.1-
-
-
-
3Gain-
AC187653.1-
-
-
-
3Gain-
AC243967.1-
-
-
-
3Gain-
AC245748.1-
-
-
-
3Gain-
AC253536.7-
-
-
-
1Loss-
ACACB-
-
-
-
3Gain-
ACAD10-
-
-
-
3Gain-
ACADS-
-
-
-
3Gain-
ACHE-
-
-
-
3Gain-
ACP4-
-
-
-
3Gain-
ACP7-
-
-
-
3Gain-
ACRBP-
-
-
-
3Gain-
ACSL1p.R237*
Nonsense
SNP
0.509
2--
ACSM4-
-
-
-
3Gain-
ACSS3-
-
-
-
3Gain-
ACTB-
-
-
-
3Gain-
ACTL6B-
-
-
-
3Gain-
ACTN4-
-
-
-
3Gain-
ACTR3B-
-
-
-
3Gain-
ACTR3C-
-
-
-
3Gain-
ACTR6-
-
-
-
3Gain-
ACVR1B-
-
-
-
3Gain-
ACVRL1-
-
-
-
3Gain-
AD000671.1-
-
-
-
3Gain-
AD000671.2-
-
-
-
3Gain-
ADAM15p.A34V
Missense
SNP
0.464
2--
ADAM22-
-
-
-
3Gain-
ADAMTS1p.A169T
Missense
SNP
0.458
2--
ADAMTS10p.A421V
Missense
SNP
0.528
2--
ADAMTS20-
-
-
-
3Gain-
ADAMTS4p.R290C
Missense
SNP
0.441
2--
ADAMTS9p.R1187*
Nonsense
SNP
0.431
2--
ADAP1-
-
-
-
3Gain-
ADCY1-
-
-
-
3Gain-
ADCY10p.I13V
Missense
SNP
0.608
2--
ADCY4p.R407*
Nonsense
SNP
0.510
2--
ADCY6-
-
-
-
3Gain-
ADCYAP1R1-
-
-
-
3Gain-
ADGRA2p.P1006L
Missense
SNP
0.545
2--
ADGRB1p.V99M
Missense
SNP
0.299
2--
ADGRD1-
-
-
-
3Gain-
ADGRG7p.Q327P
Missense
SNP
0.500
2--
ADIPOR2-
-
-
-
3Gain-
ADM5-
-
-
-
3Gain-
ADRA1Bp.R148C
Missense
SNP
0.484
2--
AEBP1-
-
-
-
3Gain-
AEBP2-
-
-
-
3Gain-
AFAP1L2p.X6_splice
Splice_Site
SNP
0.465
2--
AGAP2-
-
-
-
3Gain-
AGAP3-
-
-
-
3Gain-
AGFG2-
-
-
-
3Gain-
AGMO-
-
-
-
3Gain-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AHCYL2-
-
-
-
3Gain-
AHR-
-
-
-
3Gain-
AICDA-
-
-
-
3Gain-
AIMP2-
-
-
-
3Gain-
AK9p.G1585E
Missense
SNP
0.554
2--
AKAP1p.A202V
Missense
SNP
0.518
2--
AKAP13p.S461Y
Missense
SNP
0.536
2--
AKAP3-
-
-
-
3Gain-
AKAP9-
-
-
-
3Gain-
AKR1B10p.Q275H
Missense
SNP
0.664
NDND-
AKT1S1-
-
-
-
3Gain-
AKT2-
-
-
-
3Gain-
AL021546.1-
-
-
-
3Gain-
AL445238.1-
-
-
-
3Gain-
AL445989.1-
-
-
-
3Gain-
ALDH16A1-
-
-
-
3Gain-
ALDH1L2-
-
-
-
3Gain-
ALDH2-
-
-
-
3Gain-
ALG10-
-
-
-
3Gain-
ALG10B-
-
-
-
3Gain-
ALKp.V1471M
p.G963S
p.A92D
Missense
Missense
Missense
SNP
SNP
SNP
0.488
0.489
0.447
2--
ALKBH2-
-
-
-
3Gain-
ALKBH4-
-
-
-
3Gain-
ALKBH6-
-
-
-
3Gain-
ALPK3p.R425Q
Missense
SNP
0.503
2--
ALX1-
-
-
-
3Gain-
AMACRp.P280S
Missense
SNP
0.490
2--
AMDHD1-
-
-
-
3Gain-
AMHR2-
-
-
-
3Gain-
AMIGO2-
-
-
-
3Gain-
AMN1-
-
-
-
3Gain-
AMPD3p.T680M
Missense
SNP
0.511
2--
AMPH-
-
-
-
3Gain-
AMZ1-
-
-
-
3Gain-
ANAPC5p.A484T
Missense
SNP
0.655
3Gain-
ANAPC7-
-
-
-
3Gain-
ANGPTL4p.A59V
Missense
SNP
0.596
2--
ANHX-
-
-
-
3Gain-
ANK3p.D895G
p.A341V
Missense
Missense
SNP
SNP
0.431
0.598
2--
ANKIB1-
-
-
-
3Gain-
ANKLE1p.D44N
Missense
SNP
0.522
2--
ANKLE2-
-
-
-
3Gain-
ANKMY2-
-
-
-
3Gain-
ANKRD13A-
-
-
-
3Gain-
ANKRD27-
-
-
-
3Gain-
ANKRD31p.D1251V
Missense
SNP
0.432
2--
ANKRD33-
-
-
-
3Gain-
ANKRD52p.S837I
Missense
SNP
0.673
3Gain-
ANKRD6p.A92S
Missense
SNP
0.473
2--
ANKRD61-
-
-
-
3Gain-
ANKRD7-
-
-
-
3Gain-
ANKS1B-
-
-
-
3Gain-
ANKUB1p.A216V
Missense
SNP
0.468
2--
ANLN-
-
-
-
3Gain-
ANO2-
-
-
-
3Gain-
ANO4-
-
-
-
3Gain-
ANO6-
-
-
-
3Gain-
ANP32D-
-
-
-
3Gain-
AOAH-
-
-
-
3Gain-
AOC1-
-
-
-
3Gain-
AP1S1-
-
-
-
3Gain-
AP2A1p.R664Q
Missense
SNP
0.727
3Gain-
AP2S1-
-
-
-
3Gain-
AP4M1-
-
-
-
3Gain-
AP5Z1-
-
-
-
3Gain-
APAF1-
-
-
-
3Gain-
APCp.K2050N
Missense
SNP
0.514
2--
APLP1-
-
-
-
3Gain-
APOBp.Q3601R
Missense
SNP
0.527
2--
APOBEC1-
-
-
-
3Gain-
APOC1-
-
-
-
3Gain-
APOC2-
-
-
-
3Gain-
APOC4-APOC2-
-
-
-
3Gain-
APOE-
-
-
-
3Gain-
APOF-
-
-
-
3Gain-
APOLD1-
-
-
-
3Gain-
APPL2-
-
-
-
3Gain-
AQP1p.T146I
Missense
SNP
0.283
3Gain-
AQP2-
-
-
-
3Gain-
AQP5-
-
-
-
3Gain-
AQP6-
-
-
-
3Gain-
ARCp.T311M
Missense
SNP
0.552
2--
ARF3-
-
-
-
3Gain-
ARF5-
-
-
-
3Gain-
ARFGAP2p.A426T
Missense
SNP
0.290
2--
ARFGEF1p.G675E
Missense
SNP
0.457
2--
ARHGAP33-
-
-
-
3Gain-
ARHGAP35-
-
-
-
3Gain-
ARHGAP6p.V624M
Missense
SNP
0.459
NDND-
ARHGAP9-
-
-
-
3Gain-
ARHGDIB-
-
-
-
3Gain-
ARHGEF1-
-
-
-
3Gain-
ARHGEF11p.E613K
Missense
SNP
0.453
2--
ARHGEF25-
-
-
-
3Gain-
ARHGEF40p.Q837R
p.P998H
p.C1012Y
Missense
Missense
Missense
SNP
SNP
SNP
0.532
0.577
0.500
2--
ARHGEF5-
-
-
-
3Gain-
ARID1Bp.E13D
Missense
SNP
0.519
2--
ARID2p.S1619R
Missense
SNP
0.320
3Gain-
ARL1-
-
-
-
3Gain-
ARL4A-
-
-
-
3Gain-
ARL6IP4-
-
-
-
3Gain-
ARMC10-
-
-
-
3Gain-
ARNTp.S262L
Missense
SNP
0.465
2--
ARNTL2-
-
-
-
3Gain-
ARPC1A-
-
-
-
3Gain-
ARPC1B-
-
-
-
3Gain-
ARPC3-
-
-
-
3Gain-
ARPP21p.D163N
Missense
SNP
0.255
2--
ART4-
-
-
-
3Gain-
ASB10-
-
-
-
3Gain-
ASB13p.A74V
Missense
SNP
0.508
2--
ASB15-
-
-
-
3Gain-
ASB4-
-
-
-
3Gain-
ASB8-
-
-
-
3Gain-
ASCC3p.R1537H
Missense
SNP
0.534
2--
ASCL1-
-
-
-
3Gain-
ASCL4-
-
-
-
3Gain-
ASIC1-
-
-
-
3Gain-
ASIC3-
-
-
-
3Gain-
ASL-
-
-
-
3Gain-
ASNS-
-
-
-
3Gain-
ASPDH-
-
-
-
3Gain-
ASXL1p.L1444R
Missense
SNP
0.447
2--
ASZ1-
-
-
-
3Gain-
ATAD1-
-
-
-
1Loss-
ATF1-
-
-
-
3Gain-
ATF5-
-
-
-
3Gain-
ATF7-
-
-
-
3Gain-
ATF7IP-
-
-
-
3Gain-
ATG101-
-
-
-
3Gain-
ATG2Bp.Q1423*
Nonsense
SNP
0.539
2--
ATG9B-
-
-
-
3Gain-
ATICp.A140T
Missense
SNP
0.436
2--
ATN1-
-
-
-
3Gain-
ATP13A4p.V802A
Missense
SNP
0.452
2--
ATP1A3-
-
-
-
3Gain-
ATP1B4p.A27V
Missense
SNP
0.425
NDND-
ATP23-
-
-
-
3Gain-
ATP2A2-
-
-
-
3Gain-
ATP2B1-
-
-
-
3Gain-
ATP4A-
-
-
-
3Gain-
ATP5F1B-
-
-
-
3Gain-
ATP5MC2-
-
-
-
3Gain-
ATP5MF-
-
-
-
3Gain-
ATP5MF-PTCD1-
-
-
-
3Gain-
ATP6V0A2-
-
-
-
3Gain-
ATP6V0E2-
-
-
-
3Gain-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATP7Ap.S266T
Missense
SNP
0.430
NDND-
ATRp.A1718T
Missense
SNP
0.477
2--
ATRXp.D2004H
Missense
SNP
0.462
NDND-
ATXN2-
-
-
-
3Gain-
ATXN2Lp.V31A
Missense
SNP
0.423
2--
ATXN7L1-
-
-
-
3Gain-
ATXN7L3B-
-
-
-
3Gain-
AURKC-
-
-
-
3Gain-
AUTS2-
-
-
-
3Gain-
AVIL-
-
-
-
3Gain-
AVL9-
-
-
-
1Loss-
AVPR1A-
-
-
-
3Gain-
AXDND1p.R318H
Missense
SNP
0.497
2--
AXL-
-
-
-
3Gain-
AZGP1-
-
-
-
3Gain-
B3GALT1p.D246N
Missense
SNP
0.413
2--
B3GALT2-
-
-
-
3Gain-
B3GNT4-
-
-
-
3Gain-
B3GNT8-
-
-
-
3Gain-
B4GALNT1-
-
-
-
3Gain-
B4GALNT3-
-
-
-
3Gain-
B9D2-
-
-
-
3Gain-
BAIAP2L1-
-
-
-
3Gain-
BATFp.R37H
Missense
SNP
0.630
2--
BAX-
-
-
-
3Gain-
BAZ1B-
-
-
-
3Gain-
BAZ2A-
-
-
-
3Gain-
BBC3-
-
-
-
3Gain-
BBS10-
-
-
-
3Gain-
BBS9-
-
-
-
1Loss-
BCAM-
-
-
-
3Gain-
BCAP29-
-
-
-
3Gain-
BCAT1-
-
-
-
3Gain-
BCAT2-
-
-
-
3Gain-
BCDIN3D-
-
-
-
3Gain-
BCKDHA-
-
-
-
3Gain-
BCL2L10-
-
-
-
1LossMYO5A--BCL2L10
BCL2L12-
-
-
-
3Gain-
BCL2L14-
-
-
-
3Gain-
BCL3-
-
-
-
3Gain-
BCL7A-
-
-
-
3Gain-
BCL7B-
-
-
-
3Gain-
BEND3p.G438S
Missense
SNP
0.508
2--
BEST3-
-
-
-
3Gain-
BET1-
-
-
-
3Gain-
BGNp.N365D
Missense
SNP
0.492
NDND-
BHLHA15-
-
-
-
3Gain-
BHLHE41-
-
-
-
3Gain-
BHMG1-
-
-
-
3Gain-
BICD1-
-
-
-
3Gain-
BICDL1-
-
-
-
3Gain-
BICRA-
-
-
-
3Gain-
BIN2-
-
-
-
3Gain-
BIRC8-
-
-
-
3Gain-
BLOC1S1-
-
-
-
3Gain-
BLOC1S1-RDH5-
-
-
-
3Gain-
BLOC1S3-
-
-
-
3Gain-
BLVRA-
-
-
-
3Gain-
BLVRB-
-
-
-
3Gain-
BMP10p.W198C
Missense
SNP
0.431
2--
BMPER-
-
-
-
3Gain-
BMT2-
-
-
-
3Gain-
BOD1L1p.V667I
Missense
SNP
0.529
2--
BORCS5-
-
-
-
3Gain-
BORCS6p.G118D
Missense
SNP
0.486
2--
BPTFp.V1326A
Missense
SNP
0.515
2--
BRAFp.V600E
Missense
SNP
0.653
NDND-
BRAP-
-
-
-
3Gain-
BRAT1-
-
-
-
3Gain-
BRI3-
-
-
-
3Gain-
BRI3BP-
-
-
-
3Gain-
BRINP2p.V590A
Missense
SNP
0.550
2--
BRINP3-
-
-
-
3Gain-
BRPF3p.A278T
Missense
SNP
0.996
2--
BRSK1p.X153_splice
Splice_Site
SNP
0.269
3Gain-
BSPH1-
-
-
-
3Gain-
BTBD11-
-
-
-
3Gain-
BTG1-
-
-
-
3Gain-
BTN3A1p.X340_splice
Splice_Site
SNP
0.521
2--
BUD23-
-
-
-
3Gain-
BUD31-
-
-
-
3Gain-
BZW2-
-
-
-
3Gain-
C12orf10-
-
-
-
3Gain-
C12orf29-
-
-
-
3Gain-
C12orf4-
-
-
-
3Gain-
C12orf40-
-
-
-
3Gain-
C12orf42-
-
-
-
3Gain-
C12orf43-
-
-
-
3Gain-
C12orf45-
-
-
-
3Gain-
C12orf49-
-
-
-
3Gain-
C12orf50-
-
-
-
3Gain-
C12orf54-
-
-
-
3Gain-
C12orf56-
-
-
-
3Gain-
C12orf57-
-
-
-
3Gain-
C12orf60-
-
-
-
3Gain-
C12orf65-
-
-
-
3Gain-
C12orf66-
-
-
-
3Gain-
C12orf71-
-
-
-
3Gain-
C12orf73-
-
-
-
3Gain-
C12orf75-
-
-
-
3Gain-
C12orf76-
-
-
-
3Gain-
C19orf12-
-
-
-
3Gain-
C19orf18-
-
-
-
3Gain-
C19orf33-
-
-
-
3Gain-
C19orf47-
-
-
-
3Gain-
C19orf48-
-
-
-
3Gain-
C19orf54-
-
-
-
3Gain-
C19orf68p.C80S
p.A312V
Missense
Missense
SNP
SNP
0.657
0.315
NDND-
C19orf73-
-
-
-
3Gain-
C19orf81-
-
-
-
3Gain-
C19orf84-
-
-
-
3Gain-
C1GALT1-
-
-
-
3Gain-
C1QL4-
-
-
-
3Gain-
C1R-
-
-
-
3Gain-
C1RL-
-
-
-
3Gain-
C1S-
-
-
-
3Gain-
C20orf144p.P56S
Missense
SNP
0.509
2--
C2CD4Bp.R330C
Missense
SNP
0.473
2--
C2CD5-
-
-
-
3Gain-
C3AR1-
-
-
-
3Gain-
C5AR1-
-
-
-
3Gain-
C5AR2-
-
-
-
3Gain-
C6orf118p.N279D
Missense
SNP
0.510
2--
C7orf25-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf33-
-
-
-
3Gain-
C7orf43-
-
-
-
3Gain-
C7orf50-
-
-
-
3Gain-
C7orf57-
-
-
-
3Gain-
C7orf61p.W21C
Missense
SNP
0.690
3Gain-
C7orf77-
-
-
-
3Gain-
CA11-
-
-
-
3Gain-
CA5Bp.S6G
Missense
SNP
0.508
NDND-
CABP1-
-
-
-
3Gain-
CABP4p.P80Q
Missense
SNP
0.504
2--
CABP5-
-
-
-
3Gain-
CACNA1Cp.V372A
p.P1803L
Missense
Missense
SNP
SNP
0.559
0.615
3Gain-
CACNA1Ep.G1124C
p.A1917T
Missense
Missense
SNP
SNP
0.506
0.538
2--
CACNA1Ip.R2078W
Missense
SNP
0.588
2--
CACNA2D1-
-
-
-
3Gain-
CACNA2D4-
-
-
-
3Gain-
CACNB3-
-
-
-
3Gain-
CACNG3p.D88G
Missense
SNP
0.521
2--
CACNG6-
-
-
-
3Gain-
CACNG7-
-
-
-
3Gain-
CACNG8-
-
-
-
3Gain-
CADM4-
-
-
-
3Gain-
CADPS2-
-
-
-
3Gain-
CALCOCO1-
-
-
-
3Gain-
CALCR-
-
-
-
3Gain-
CALM3-
-
-
-
3Gain-
CALN1-
-
-
-
3Gain-
CALU-
-
-
-
3Gain-
CAMK2B-
-
-
-
3Gain-
CAMKK2-
-
-
-
3Gain-
CAMSAP3p.A220T
p.D443G
p.A1223T
Missense
Missense
Missense
SNP
SNP
SNP
0.311
0.477
0.453
2--
CAND1-
-
-
-
3Gain-
CAPN12-
-
-
-
3Gain-
CAPNS1-
-
-
-
3Gain-
CAPRIN2-
-
-
-
3Gain-
CAPS2-
-
-
-
3Gain-
CAPZA2-
-
-
-
3Gain-
CAPZA3-
-
-
-
3Gain-
CARD11-
-
-
-
3Gain-
CARD8-
-
-
-
3Gain-
CASC1-
-
-
-
3Gain-
CASD1-
-
-
-
3Gain-
CASP2-
-
-
-
3Gain-
CASTOR2-
-
-
-
3Gain-
CASTOR3-
-
-
-
3Gain-
CATIP-
-
-
-
1Loss-
CATSPERG-
-
-
-
3Gain-
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CBLC-
-
-
-
3Gain-
CBLL1-
-
-
-
3Gain-
CBX3-
-
-
-
3Gain-
CBX5-
-
-
-
3Gain-
CC2D2Bp.Q371H
Missense
SNP
0.476
2--
CCDC106p.E235K
Missense
SNP
0.726
3Gain-
CCDC114-
-
-
-
3Gain-
CCDC126-
-
-
-
3Gain-
CCDC136-
-
-
-
3Gain-
CCDC146-
-
-
-
3Gain-
CCDC155-
-
-
-
3Gain-
CCDC166p.R411W
p.L409M
Missense
Missense
SNP
SNP
0.504
0.489
2--
CCDC168p.S2860T
p.P1241Q
Missense
Missense
SNP
SNP
0.560
0.443
2--
CCDC184-
-
-
-
3Gain-
CCDC38-
-
-
-
3Gain-
CCDC57p.Q701K
Missense
SNP
0.465
2--
CCDC59-
-
-
-
3Gain-
CCDC6p.R260C
Missense
SNP
0.615
2--
CCDC60-
-
-
-
3Gain-
CCDC61-
-
-
-
3Gain-
CCDC62-
-
-
-
3Gain-
CCDC63-
-
-
-
3Gain-
CCDC65-
-
-
-
3Gain-
CCDC71L-
-
-
-
3Gain-
CCDC77-
-
-
-
3Gain-
CCDC8-
-
-
-
3Gain-
CCDC9-
-
-
-
3Gain-
CCDC91-
-
-
-
3Gain-
CCDC92-
-
-
-
3Gain-
CCDC97-
-
-
-
3Gain-
CCER1-
-
-
-
3Gain-
CCER2-
-
-
-
3Gain-
CCL24-
-
-
-
3Gain-
CCL26-
-
-
-
3Gain-
CCM2-
-
-
-
3Gain-
CCND1p.A246V
Missense
SNP
0.432
2--
CCND2-
-
-
-
3Gain-
CCNE1-
-
-
-
3Gain-
CCNT1-
-
-
-
3Gain-
CCT2-
-
-
-
3Gain-
CCT6A-
-
-
-
3Gain-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD163p.D253A
Missense
SNP
0.307
3Gain-
CD163L1-
-
-
-
3Gain-
CD177-
-
-
-
3Gain-
CD19p.H218R
Missense
SNP
0.498
2--
CD22-
-
-
-
3Gain-
CD27-
-
-
-
3Gain-
CD33p.V39M
Missense
SNP
0.736
3Gain-
CD36-
-
-
-
3Gain-
CD37-
-
-
-
3Gain-
CD3EAP-
-
-
-
3Gain-
CD4-
-
-
-
3Gain-
CD5p.N371K
Missense
SNP
0.426
2--
CD63-
-
-
-
3Gain-
CD69-
-
-
-
3Gain-
CD79A-
-
-
-
3Gain-
CD9-
-
-
-
3Gain-
CDC14C-
-
-
-
3Gain-
CDC42EP5-
-
-
-
3Gain-
CDC73-
-
-
-
3Gain-
CDCA3-
-
-
-
3Gain-
CDCA7L-
-
-
-
3Gain-
CDH10p.R27K
Missense
SNP
0.423
3Gain-
CDH12-
-
-
-
3Gain-
CDH18-
-
-
-
3Gain-
CDH2p.G336R
Missense
SNP
0.451
2--
CDH6-
-
-
-
3Gain-
CDH9-
-
-
-
3Gain-
CDHR3-
-
-
-
3Gain-
CDK11A-
-
-
-
1Loss-
CDK11B-
-
-
-
1Loss-
CDK13-
-
-
-
3Gain-
CDK14-
-
-
-
3Gain-
CDK17-
-
-
-
3Gain-
CDK2-
-
-
-
3Gain-
CDK2AP1-
-
-
-
3Gain-
CDK4-
-
-
-
3Gain-
CDK5-
-
-
-
3Gain-
CDK6-
-
-
-
3Gain-
CDKL5p.G17R
Missense
SNP
0.500
NDND-
CDKN1B-
-
-
-
3Gain-
CDR2Lp.G293R
Missense
SNP
0.479
2--
CEACAM1-
-
-
-
3Gain-
CEACAM16-
-
-
-
3Gain-
CEACAM18-
-
-
-
3Gain-
CEACAM19-
-
-
-
3Gain-
CEACAM20-
-
-
-
3Gain-
CEACAM21-
-
-
-
3Gain-
CEACAM3-
-
-
-
3Gain-
CEACAM4-
-
-
-
3Gain-
CEACAM5-
-
-
-
3Gain-
CEACAM6-
-
-
-
3Gain-
CEACAM7-
-
-
-
3Gain-
CEACAM8-
-
-
-
3Gain-
CEBPA-
-
-
-
3Gain-
CEBPG-
-
-
-
3Gain-
CELA1-
-
-
-
3Gain-
CELF1p.A309V
Missense
SNP
0.470
2--
CELSR1p.V320I
Missense
SNP
0.477
2--
CELSR3p.R3117W
Missense
SNP
0.512
2--
CEP128p.R232H
Missense
SNP
0.439
2--
CEP131p.R947Q
Missense
SNP
0.527
2--
CEP170Bp.P759L
Missense
SNP
0.465
2--
CEP290-
-
-
-
3Gain-
CEP41-
-
-
-
3Gain-
CEP83-
-
-
-
3Gain-
CEP89-
-
-
-
3Gain-
CERS5-
-
-
-
3Gain-
CFAP54-
-
-
-
3Gain-
CFAP69-
-
-
-
3Gain-
CFAP73-
-
-
-
3Gain-
CFTR-
-
-
-
3Gain-
CGB1-
-
-
-
3Gain-
CGB2-
-
-
-
3Gain-
CHAMP1p.A643V
Missense
SNP
0.510
2--
CHCHD2-
-
-
-
3Gain-
CHD4-
-
-
-
3Gain-
CHD7p.R2027Q
Missense
SNP
0.538
2--
CHFR-
-
-
-
3Gain-
CHGBp.P22S
Missense
SNP
0.500
2--
CHMP2A-
-
-
-
3Gain-
CHN2-
-
-
-
3Gain-
CHPF2-
-
-
-
3Gain-
CHPT1-
-
-
-
3Gain-
CHRDp.T844I
Missense
SNP
0.362
2--
CHRNA10p.V226I
Missense
SNP
0.433
2--
CHST11-
-
-
-
3Gain-
CHST12p.K297E
Missense
SNP
0.358
3Gain-
CHST8-
-
-
-
3Gain-
CHSY3p.A429S
Missense
SNP
0.589
2--
CICp.P833S
Missense
SNP
0.714
3Gain-
CIT-
-
-
-
3Gain-
CKAP4-
-
-
-
3Gain-
CKAP5p.D1783N
Missense
SNP
0.438
2--
CKM-
-
-
-
3Gain-
CLASP1p.P811H
Missense
SNP
0.552
2--
CLASRP-
-
-
-
3Gain-
CLC-
-
-
-
3Gain-
CLCN1-
-
-
-
3Gain-
CLCN3p.V595A
Missense
SNP
0.616
2--
CLDN12-
-
-
-
3Gain-
CLDN15-
-
-
-
3Gain-
CLDN3-
-
-
-
3Gain-
CLDN4-
-
-
-
3Gain-
CLDND2-
-
-
-
3Gain-
CLEC11A-
-
-
-
3Gain-
CLEC12A-
-
-
-
3Gain-
CLEC12B-
-
-
-
3Gain-
CLEC14Ap.E427K
Missense
SNP
0.573
2--
CLEC1A-
-
-
-
3Gain-
CLEC1B-
-
-
-
3Gain-
CLEC2A-
-
-
-
3Gain-
CLEC2B-
-
-
-
3Gain-
CLEC2D-
-
-
-
3Gain-
CLEC4A-
-
-
-
3Gain-
CLEC4C-
-
-
-
3Gain-
CLEC4D-
-
-
-
3Gain-
CLEC4E-
-
-
-
3Gain-
CLEC6A-
-
-
-
3Gain-
CLEC7A-
-
-
-
3Gain-
CLEC9A-
-
-
-
3Gain-
CLECL1-
-
-
-
3Gain-
CLIP1-
-
-
-
3Gain-
CLIP2-
-
-
-
3Gain-
CLIP3-
-
-
-
3Gain-
CLLU1OS-
-
-
-
3Gain-
CLPTM1-
-
-
-
3Gain-
CLSTN3-
-
-
-
3Gain-
CMAS-
-
-
-
3Gain-
CMKLR1-
-
-
-
3Gain-
CMTM4p.M19T
Missense
SNP
0.469
2--
CNFN-
-
-
-
3Gain-
CNOT2-
-
-
-
3Gain-
CNOT3-
-
-
-
3Gain-
CNPY1-
-
-
-
3Gain-
CNPY2-
-
-
-
3Gain-
CNPY4-
-
-
-
3Gain-
CNTD2-
-
-
-
3Gain-
CNTN1-
-
-
-
3Gain-
CNTN3p.K848T
Missense
SNP
0.535
2--
CNTN6p.E722D
Missense
SNP
0.546
2--
CNTNAP1p.M236V
Missense
SNP
0.460
2--
CNTNAP2-
-
-
-
6Amp-
CNTRLp.M668T
Missense
SNP
0.460
2--
COA1-
-
-
-
3Gain-
COBL-
-
-
-
3Gain-
COG5-
-
-
-
3Gain-
COG7p.D679G
Missense
SNP
0.474
2--
COL1A1p.R1168H
Missense
SNP
0.547
2--
COL1A2-
-
-
-
3Gain-
COL25A1p.G473V
Missense
SNP
0.470
2--
COL26A1-
-
-
-
3Gain-
COL28A1-
-
-
-
3Gain-
COL2A1-
-
-
-
3Gain-
COL7A1p.T334A
Missense
SNP
0.367
2--
COP1-
-
-
-
1Loss-
COPG2-
-
-
-
3Gain-
COPS6-
-
-
-
3Gain-
COPS7A-
-
-
-
3Gain-
COPZ1-
-
-
-
3Gain-
COQ10A-
-
-
-
3Gain-
COQ5-
-
-
-
3Gain-
COQ8B-
-
-
-
3Gain-
CORO1C-
-
-
-
3Gain-
COX14-
-
-
-
3Gain-
COX19-
-
-
-
3Gain-
COX6A1-
-
-
-
3Gain-
COX6B1-
-
-
-
3Gain-
COX6B2-
-
-
-
3Gain-
COX7A1-
-
-
-
3Gain-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPB1p.R152H
p.G198E
Missense
Missense
SNP
SNP
0.464
0.544
2--
CPED1-
-
-
-
3Gain-
CPM-
-
-
-
3Gain-
CPNE8-
-
-
-
3Gain-
CPSF4-
-
-
-
3Gain-
CPSF6-
-
-
-
3Gain-
CPT1Ap.R517M
Missense
SNP
0.466
2--
CPT1C-
-
-
-
3Gain-
CPVL-
-
-
-
3Gain-
CPXM1p.R383*
Nonsense
SNP
0.541
2--
CPXM2p.G204V
Missense
SNP
0.456
2--
CRACR2Ap.A595T
Missense
SNP
0.640
3Gain-
CRADD-
-
-
-
3Gain-
CRAMP1p.F229V
Missense
SNP
0.517
2--
CRCP-
-
-
-
3Gain-
CREB5-
-
-
-
3Gain-
CREBL2-
-
-
-
3Gain-
CRHR2-
-
-
-
3Gain-
CROT-
-
-
-
3Gain-
CRX-
-
-
-
3Gain-
CRY1p.G377*
Nonsense
SNP
0.300
3Gain-
CRYGN-
-
-
-
3Gain-
CS-
-
-
-
3Gain-
CSAD-
-
-
-
3Gain-
CSNK1G1p.F462I
Missense
SNP
0.415
2--
CSRNP2-
-
-
-
3Gain-
CSRP2-
-
-
-
3Gain-
CTAGE4-
-
-
-
3Gain-
CTAGE8-
-
-
-
3Gain-
CTDSP1-
-
-
-
1Loss-
CTDSP2-
-
-
-
3Gain-
CTSGp.A76T
Missense
SNP
0.528
2--
CTTNBP2p.G1058*
Nonsense
SNP
0.298
3Gain-
CTU1-
-
-
-
3Gain-
CUBNp.L3096V
Missense
SNP
0.441
2--
CUL1-
-
-
-
3Gain-
CUX1-
-
-
-
3Gain-
CUX2-
-
-
-
3Gain-
CXCL17-
-
-
-
3Gain-
CYCS-
-
-
-
3Gain-
CYP26C1p.A480V
Missense
SNP
0.491
2--
CYP27B1-
-
-
-
3Gain-
CYP2A13-
-
-
-
3Gain-
CYP2A6-
-
-
-
3Gain-
CYP2A7-
-
-
-
3Gain-
CYP2B6-
-
-
-
3Gain-
CYP2F1-
-
-
-
3Gain-
CYP2S1-
-
-
-
3Gain-
CYP2W1-
-
-
-
3Gain-
CYP3A4-
-
-
-
3Gain-
CYP3A43-
-
-
-
3Gain-
CYP3A5-
-
-
-
3Gain-
CYP3A7-
-
-
-
3Gain-
CYP3A7-CYP3A51P-
-
-
-
3Gain-
CYP51A1-
-
-
-
3Gain-
CYTH2-
-
-
-
3Gain-
CYTH3-
-
-
-
3Gain-
DACT3-
-
-
-
3Gain-
DAGLB-
-
-
-
3Gain-
DAO-
-
-
-
3Gain-
DAXXp.R256H
Missense
SNP
0.390
2--
DAZAP2-
-
-
-
3Gain-
DBF4-
-
-
-
3Gain-
DBNL-
-
-
-
3Gain-
DBP-
-
-
-
3Gain-
DBX2-
-
-
-
3Gain-
DCD-
-
-
-
3Gain-
DCN-
-
-
-
3Gain-
DCP1B-
-
-
-
3Gain-
DCT-
-
-
-
3Gain-
DCTN2-
-
-
-
3Gain-
DDC-
-
-
-
3Gain-
DDIT3-
-
-
-
3Gain-
DDN-
-
-
-
3Gain-
DDT-
-
-
-
1Loss-
DDTL-
-
-
-
1Loss-
DDX11-
-
-
-
3Gain-
DDX18p.L528F
Missense
SNP
0.557
2--
DDX23-
-
-
-
3Gain-
DDX47-
-
-
-
3Gain-
DDX51-
-
-
-
3Gain-
DDX54-
-
-
-
3Gain-
DDX55-
-
-
-
3Gain-
DDX56-
-
-
-
3Gain-
DDX60Lp.R1050I
Missense
SNP
0.404
2--
DECR2p.P283S
Missense
SNP
0.405
2--
DEDD2-
-
-
-
3Gain-
DEF6p.R449W
Missense
SNP
1.000
2--
DEF8p.W18*
Nonsense
SNP
0.500
2--
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DENND1Cp.V114L
Missense
SNP
0.572
2--
DENND5B-
-
-
-
3Gain-
DENR-
-
-
-
3Gain-
DEPDC4-
-
-
-
3Gain-
DERA-
-
-
-
3Gain-
DGKA-
-
-
-
3Gain-
DGKB-
-
-
-
3Gain-
DGKIp.G86S
Missense
SNP
0.712
NDND-
DHDH-
-
-
-
3Gain-
DHH-
-
-
-
3Gain-
DHRS7Bp.S193G
Missense
SNP
0.490
2--
DHX34-
-
-
-
3Gain-
DHX37-
-
-
-
3Gain-
DIABLO-
-
-
-
3Gain-
DIP2B-
-
-
-
3Gain-
DIP2Cp.V384G
Missense
SNP
0.455
2--
DKK2p.I25T
Missense
SNP
0.439
2--
DKKL1-
-
-
-
3Gain-
DLD-
-
-
-
3Gain-
DLL3-
-
-
-
3Gain-
DLX5-
-
-
-
3Gain-
DLX6-
-
-
-
3Gain-
DMAC2-
-
-
-
3Gain-
DMDp.R1459*
Nonsense
SNP
0.548
NDND-
DMKN-
-
-
-
3Gain-
DMPK-
-
-
-
3Gain-
DMRTC2-
-
-
-
3Gain-
DMTF1-
-
-
-
3Gain-
DMWD-
-
-
-
3Gain-
DNA2p.P830S
Missense
SNP
0.482
2--
DNAAF3-
-
-
-
3Gain-
DNAAF5-
-
-
-
3Gain-
DNAH10p.P515H
p.L1962M
Missense
Missense
SNP
SNP
0.332
0.638
3Gain-
DNAH11-
-
-
-
3Gain-
DNAH17p.A3477V
Missense
SNP
0.509
2--
DNAH2p.R3834Q
Missense
SNP
0.479
2--
DNAH8p.E2116K
Missense
SNP
0.520
2--
DNAJB5p.G422D
Missense
SNP
0.493
2--
DNAJB6-
-
-
-
3Gain-
DNAJB9-
-
-
-
3Gain-
DNAJC14-
-
-
-
3Gain-
DNAJC2-
-
-
-
3Gain-
DNAJC22-
-
-
-
3Gain-
DNAJC3p.R76W
Missense
SNP
0.464
2--
DNAJC30-
-
-
-
3Gain-
DNM1L-
-
-
-
3Gain-
DNMBPp.L626R
Missense
SNP
0.427
2--
DNMT3Lp.G34D
Missense
SNP
0.518
2--
DOCK2p.A901V
Missense
SNP
0.444
2--
DOCK4-
-
-
-
3Gain-
DOCK7p.H2088R
Missense
SNP
0.477
2--
DOPEY2p.E1623A
Missense
SNP
0.413
NDND-
DPF1-
-
-
-
3Gain-
DPM1p.P125S
Missense
SNP
0.623
2--
DPP6-
-
-
-
3Gain-
DPPA3-
-
-
-
3Gain-
DPRX-
-
-
-
3Gain-
DPY19L1-
-
-
-
3Gain-
DPY19L2-
-
-
-
3Gain-
DPY19L3-
-
-
-
3Gain-
DPYSL3p.F588L
Missense
SNP
0.473
2--
DRAM1-
-
-
-
3Gain-
DRAM2p.L11I
Missense
SNP
0.531
2--
DRD5p.C308*
Nonsense
SNP
0.412
2--
DROSHA-
-
-
-
3Gain-
DSCAML1p.T1599M
Missense
SNP
0.514
2--
DTX1-
-
-
-
3Gain-
DTX2-
-
-
-
3Gain-
DTX3-
-
-
-
3Gain-
DUS4L-
-
-
-
3Gain-
DUSP16-
-
-
-
3Gain-
DUSP6-
-
-
-
3Gain-
DUXA-
-
-
-
3Gain-
DVL1p.P104L
Missense
SNP
0.444
2--
DVL2p.Q500R
Missense
SNP
0.535
2--
DVL3p.W450R
Missense
SNP
0.506
2--
DYNC1I1-
-
-
-
3Gain-
DYNLL1-
-
-
-
3Gain-
DYRK1B-
-
-
-
3Gain-
DYRK2-
-
-
-
3Gain-
DYRK4p.E78D
Missense
SNP
0.698
3Gain-
DYSFp.P239H
Missense
SNP
0.492
2--
DZIP1Lp.R447H
Missense
SNP
0.501
2--
E2F7-
-
-
-
3Gain-
ECDp.R188*
Nonsense
SNP
0.503
2--
ECE2p.G715D
Missense
SNP
0.493
2--
ECH1-
-
-
-
3Gain-
EDNRBp.A133V
Missense
SNP
0.439
2--
EEA1-
-
-
-
3Gain-
EEDp.A41T
Missense
SNP
0.467
2--
EEF1AKMT3-
-
-
-
3Gain-
EEPD1-
-
-
-
3Gain-
EFCAB10-
-
-
-
3Gain-
EFCAB13p.D610N
Missense
SNP
0.373
2--
EFHC2p.X681_splice
Splice_Site
SNP
0.465
NDND-
EGFR-
-
-
-
3Gain-
EGLN2-
-
-
-
3Gain-
EGR3p.R264Q
Missense
SNP
0.322
2--
EHD2-
-
-
-
3Gain-
EHD3-
-
-
-
1Loss-
EHHADHp.X25_splice
Splice_Site
SNP
0.408
2--
EID2-
-
-
-
3Gain-
EID2B-
-
-
-
3Gain-
EID3-
-
-
-
3Gain-
EIF2AK1-
-
-
-
3Gain-
EIF2B1-
-
-
-
3Gain-
EIF2B2p.P296L
Missense
SNP
0.447
2--
EIF2S3B-
-
-
-
3Gain-
EIF3B-
-
-
-
3Gain-
EIF3K-
-
-
-
3Gain-
EIF4B-
-
-
-
3Gain-
EIF4H-
-
-
-
3Gain-
ELAVL2p.I214T
Missense
SNP
0.480
2--
ELF2p.R310*
Nonsense
SNP
0.555
2--
ELFN1-
-
-
-
3Gain-
ELK3-
-
-
-
3Gain-
ELMO1-
-
-
-
3Gain-
ELN-
-
-
-
3Gain-
ELSPBP1-
-
-
-
3Gain-
EMC10-
-
-
-
3Gain-
EMG1-
-
-
-
3Gain-
EMILIN3p.G496S
Missense
SNP
0.479
2--
EML2-
-
-
-
3Gain-
EMP1-
-
-
-
3Gain-
EMP3-
-
-
-
3Gain-
EN2-
-
-
-
3Gain-
ENDOU-
-
-
-
3Gain-
ENGASEp.V275A
Missense
SNP
0.483
2--
ENO1p.R183H
Missense
SNP
0.582
2--
ENO2-
-
-
-
3Gain-
EP400-
-
-
-
3Gain-
EPAS1p.D139N
Missense
SNP
0.438
2--
EPDR1-
-
-
-
3Gain-
EPHA1-
-
-
-
3Gain-
EPHB4-
-
-
-
3Gain-
EPHB6-
-
-
-
3Gain-
EPN1p.T400M
Missense
SNP
0.244
3Gain-
EPN3p.R194C
Missense
SNP
0.382
2--
EPO-
-
-
-
3Gain-
EPPK1p.L617R
Missense
SNP
0.498
2--
EPS8-
-
-
-
3Gain-
EPS8L1-
-
-
-
3Gain-
EPYC-
-
-
-
3Gain-
ERBB3-
-
-
-
3Gain-
ERC1-
-
-
-
3Gain-
ERCC1-
-
-
-
3Gain-
ERCC2-
-
-
-
3Gain-
ERCC6Lp.S1069N
Missense
SNP
0.415
NDND-
ERF-
-
-
-
3Gain-
ERGIC2-
-
-
-
3Gain-
ERICH3p.R1209H
Missense
SNP
0.492
2--
ERICH4-
-
-
-
3Gain-
ERP27-
-
-
-
3Gain-
ERP29-
-
-
-
3Gain-
ERV3-1-
-
-
-
3Gain-
ERVV-1-
-
-
-
3Gain-
ERVV-2-
-
-
-
3Gain-
ESPL1-
-
-
-
3Gain-
ESYT1-
-
-
-
3Gain-
ESYT2-
-
-
-
3Gain-
ETFB-
-
-
-
3Gain-
ETFBKMT-
-
-
-
3Gain-
ETFRF1-
-
-
-
3Gain-
ETHE1-
-
-
-
3Gain-
ETNK1-
-
-
-
3Gain-
ETV1-
-
-
-
3Gain-
ETV2-
-
-
-
3Gain-
ETV6-
-
-
-
3Gain-
EVI5Lp.E214D
Missense
SNP
0.435
2--
EVX1-
-
-
-
3Gain-
EXOC3p.R168H
Missense
SNP
0.486
2--
EXOC3L2-
-
-
-
3Gain-
EXOSC5-
-
-
-
3Gain-
EYA1p.A411D
Missense
SNP
0.464
2--
EZH2-
-
-
-
3Gain-
F2RL1p.G44D
Missense
SNP
0.516
2--
F8p.S984L
Missense
SNP
0.439
NDND-
FAAP24-
-
-
-
3Gain-
FABP5p.C47R
Missense
SNP
0.421
2--
FAHp.A147V
Missense
SNP
0.439
2--
FAIM2-
-
-
-
3Gain-
FAM126A-
-
-
-
3Gain-
FAM131B-
-
-
-
3Gain-
FAM133B-
-
-
-
3Gain-
FAM13Cp.X412_splice
Splice_Site
SNP
0.473
2--
FAM185A-
-
-
-
3Gain-
FAM186A-
-
-
-
3Gain-
FAM186B-
-
-
-
3Gain-
FAM187B-
-
-
-
3Gain-
FAM19A2-
-
-
-
3Gain-
FAM200A-
-
-
-
3Gain-
FAM20C-
-
-
-
3Gain-
FAM216A-
-
-
-
3Gain-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM222A-
-
-
-
3Gain-
FAM234B-
-
-
-
3Gain-
FAM24Ap.P57T
Missense
SNP
0.526
2--
FAM3C-
-
-
-
3Gain-
FAM47Bp.R36M
Missense
SNP
0.532
NDND-
FAM71C-
-
-
-
3Gain-
FAM71E1-
-
-
-
3Gain-
FAM71E2-
-
-
-
3Gain-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FAM81Bp.S412T
Missense
SNP
0.667
2--
FAM83E-
-
-
-
3Gain-
FAM83Fp.W263R
Missense
SNP
0.524
2--
FAM98C-
-
-
-
3Gain-
FAR2-
-
-
-
3Gain-
FASTK-
-
-
-
3Gain-
FAT2p.Y2416C
Missense
SNP
0.491
2--
FAT3p.S3314G
Missense
SNP
0.476
2--
FAT4p.I4742M
Missense
SNP
0.500
2--
FBL-
-
-
-
3Gain-
FBRSL1-
-
-
-
3Gain-
FBXL13-
-
-
-
3Gain-
FBXL14-
-
-
-
3Gain-
FBXL18-
-
-
-
3Gain-
FBXO17-
-
-
-
3Gain-
FBXO21-
-
-
-
3Gain-
FBXO24-
-
-
-
3Gain-
FBXO27-
-
-
-
3Gain-
FBXO34p.E100K
Missense
SNP
0.520
2--
FBXO46-
-
-
-
3Gain-
FBXW8-
-
-
-
3Gain-
FCAR-
-
-
-
3Gain-
FCGBP-
-
-
-
3Gain-
FCGRT-
-
-
-
3Gain-
FCHO2p.S533G
Missense
SNP
0.487
2--
FERD3Lp.R47*
Nonsense
SNP
0.729
3Gain-
FEZF1-
-
-
-
3Gain-
FFAR1-
-
-
-
3Gain-
FFAR2p.I205V
Missense
SNP
0.736
3Gain-
FFAR3-
-
-
-
3Gain-
FGD4-
-
-
-
3Gain-
FGD6-
-
-
-
3Gain-
FGF21-
-
-
-
3Gain-
FGF23-
-
-
-
3Gain-
FGF6-
-
-
-
3Gain-
FGFR1OP2-
-
-
-
3Gain-
FGL2-
-
-
-
3Gain-
FHOD1p.P345S
Missense
SNP
0.468
2--
FICD-
-
-
-
3Gain-
FIGNL1-
-
-
-
3Gain-
FIGNL2-
-
-
-
3Gain-
FIS1-
-
-
-
3Gain-
FIZ1-
-
-
-
3Gain-
FKBP11-
-
-
-
3Gain-
FKBP14-
-
-
-
3Gain-
FKBP4-
-
-
-
3Gain-
FKBP6-
-
-
-
3Gain-
FKBP9-
-
-
-
1Loss-
FKRP-
-
-
-
3Gain-
FLG2-
-
-
-
3Gain-
FLNBp.C1751*
Nonsense
SNP
0.475
2--
FLNCp.G711D
Missense
SNP
0.684
3Gain-
FLT3LG-
-
-
-
3Gain-
FMNL3p.X42_splice
Splice_Site
SNP
0.313
3Gain-
FNDC3Bp.N1001K
Missense
SNP
0.514
2--
FOSB-
-
-
-
3Gain-
FOXA3-
-
-
-
3Gain-
FOXH1p.G200V
Missense
SNP
0.537
2--
FOXJ2-
-
-
-
3Gain-
FOXK1-
-
-
-
3Gain-
FOXM1-
-
-
-
3Gain-
FOXN4-
-
-
-
3Gain-
FOXP2-
-
-
-
3Gain-
FPR1-
-
-
-
3Gain-
FPR2-
-
-
-
3Gain-
FPR3p.R137H
Missense
SNP
0.271
3Gain-
FREM3p.D921G
Missense
SNP
0.540
2--
FRMD4Ap.T732I
Missense
SNP
0.473
2--
FRS2-
-
-
-
3Gain-
FSCN1-
-
-
-
3Gain-
FSCN3-
-
-
-
3Gain-
FTL-
-
-
-
3Gain-
FUOMp.E121G
Missense
SNP
0.429
2--
FUT1-
-
-
-
3Gain-
FUT2-
-
-
-
3Gain-
FUZ-
-
-
-
3Gain-
FXYD1-
-
-
-
3Gain-
FXYD3-
-
-
-
3Gain-
FXYD5-
-
-
-
3Gain-
FXYD7-
-
-
-
3Gain-
FZD1-
-
-
-
3Gain-
FZD10-
-
-
-
3Gain-
FZD9-
-
-
-
3Gain-
GABARAPL1-
-
-
-
3Gain-
GABRA3p.R83Q
Missense
SNP
0.487
NDND-
GABRB1p.T201I
Missense
SNP
0.597
2--
GAKp.A773V
Missense
SNP
0.528
2--
GAL3ST4-
-
-
-
3Gain-
GALNT11-
-
-
-
3Gain-
GALNT17-
-
-
-
3Gain-
GALNT6-
-
-
-
3Gain-
GALNT8-
-
-
-
3Gain-
GALNT9p.Q152H
Missense
SNP
0.391
3Gain-
GALNTL5-
-
-
-
3Gain-
GALP-
-
-
-
3Gain-
GAPDH-
-
-
-
3Gain-
GAPDHS-
-
-
-
3Gain-
GARS-
-
-
-
3Gain-
GAS2L3-
-
-
-
3Gain-
GATAD1-
-
-
-
3Gain-
GATC-
-
-
-
3Gain-
GATMp.G9S
Missense
SNP
0.357
2--
GBF1p.K1112E
Missense
SNP
0.453
2--
GBX1-
-
-
-
3Gain-
GCC1-
-
-
-
3Gain-
GCK-
-
-
-
3Gain-
GCN1-
-
-
-
3Gain-
GDAP1L1p.P16S
Missense
SNP
0.494
2--
GDF10p.R277C
Missense
SNP
0.418
2--
GDF11-
-
-
-
3Gain-
GDF3-
-
-
-
3Gain-
GEMIN7-
-
-
-
3Gain-
GET4-
-
-
-
3Gain-
GFOD1p.P284Q
Missense
SNP
0.452
2--
GFRA4p.L68P
Missense
SNP
0.605
2--
GFY-
-
-
-
3Gain-
GGCT-
-
-
-
3Gain-
GGN-
-
-
-
3Gain-
GHRHR-
-
-
-
3Gain-
GIGYF1-
-
-
-
3Gain-
GIMAP1-
-
-
-
3Gain-
GIMAP1-GIMAP5-
-
-
-
3Gain-
GIMAP2-
-
-
-
3Gain-
GIMAP4-
-
-
-
3Gain-
GIMAP5-
-
-
-
3Gain-
GIMAP6-
-
-
-
3Gain-
GIMAP7-
-
-
-
3Gain-
GIMAP8-
-
-
-
3Gain-
GIPR-
-
-
-
3Gain-
GIT2-
-
-
-
3Gain-
GJC2p.R104H
Missense
SNP
0.560
2--
GJC3-
-
-
-
3Gain-
GLAp.A15V
Missense
SNP
0.554
NDND-
GLCCI1-
-
-
-
3Gain-
GLI1-
-
-
-
3Gain-
GLI3-
-
-
-
3Gain-
GLIPR1-
-
-
-
3Gain-
GLIPR1L1-
-
-
-
3Gain-
GLIPR1L2-
-
-
-
3Gain-
GLRX2-
-
-
-
3Gain-
GLS2-
-
-
-
3Gain-
GLT1D1-
-
-
-
3Gain-
GLT8D1-
-
-
-
3Gain-
GLT8D2-
-
-
-
3Gain-
GLTP-
-
-
-
3Gain-
GLUD1-
-
-
-
1Loss-
GMEB2p.G484C
Missense
SNP
0.532
2--
GMFG-
-
-
-
3Gain-
GNA12-
-
-
-
3Gain-
GNA15p.V207M
p.L374R
Missense
Missense
SNP
SNP
0.513
0.521
2--
GNAI1-
-
-
-
3Gain-
GNAQp.T54M
Missense
SNP
0.535
2--
GNASp.S237N
Missense
SNP
0.549
2--
GNAT3-
-
-
-
3Gain-
GNB2-
-
-
-
3Gain-
GNB3-
-
-
-
3Gain-
GNB5-
-
-
-
1Loss-
GNG11-
-
-
-
3Gain-
GNG8-
-
-
-
3Gain-
GNGT1-
-
-
-
3Gain-
GNL3-
-
-
-
3Gain-
GNPTAB-
-
-
-
3Gain-
GNS-
-
-
-
3Gain-
GOLGA3-
-
-
-
3Gain-
GOLGB1p.A491T
Missense
SNP
0.513
2--
GOLPH3-
-
-
-
3Gain-
GOLT1B-
-
-
-
3Gain-
GP6-
-
-
-
3Gain-
GPATCH1-
-
-
-
3Gain-
GPATCH8p.R859H
Missense
SNP
0.536
2--
GPC2-
-
-
-
3Gain-
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPD1-
-
-
-
3Gain-
GPER1-
-
-
-
3Gain-
GPI-
-
-
-
3Gain-
GPN3-
-
-
-
3Gain-
GPNMB-
-
-
-
3Gain-
GPR141p.K261E
Missense
SNP
0.663
3Gain-
GPR146p.R214H
Missense
SNP
0.293
3Gain-
GPR162p.G376*
Nonsense
SNP
0.625
3Gain-
GPR182-
-
-
-
3Gain-
GPR19-
-
-
-
3Gain-
GPR22-
-
-
-
3Gain-
GPR32-
-
-
-
3Gain-
GPR37-
-
-
-
3Gain-
GPR4-
-
-
-
3Gain-
GPR42-
-
-
-
3Gain-
GPR63p.P280T
Missense
SNP
0.433
2--
GPR84-
-
-
-
3Gain-
GPR85-
-
-
-
3Gain-
GPRC5A-
-
-
-
3Gain-
GPRC5D-
-
-
-
3Gain-
GRAMD1A-
-
-
-
3Gain-
GRASP-
-
-
-
3Gain-
GRB10-
-
-
-
3Gain-
GREB1p.A197T
Missense
SNP
0.476
2--
GRIA1p.R136H
Missense
SNP
0.564
2--
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIK2-
-
-
-
3Gain-
GRIK3p.A839V
Missense
SNP
0.476
2--
GRIK5-
-
-
-
3Gain-
GRIN2B-
-
-
-
3Gain-
GRIN2D-
-
-
-
3Gain-
GRIP1-
-
-
-
3Gain-
GRM3-
-
-
-
3Gain-
GRM8-
-
-
-
3Gain-
GRWD1-
-
-
-
3Gain-
GSAP-
-
-
-
3Gain-
GSDME-
-
-
-
3Gain-
GSG1-
-
-
-
3Gain-
GSK3A-
-
-
-
3Gain-
GSTK1-
-
-
-
3Gain-
GSTM2p.Y138H
Missense
SNP
0.375
2--
GSTT2-
-
-
-
1Loss-
GTF2H3-
-
-
-
3Gain-
GTF2I-
-
-
-
3Gain-
GTF2IRD1-
-
-
-
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTF3C1p.R160M
Missense
SNP
0.482
2--
GTPBP10-
-
-
-
3Gain-
GTPBP8p.R188M
Missense
SNP
0.506
2--
GTSF1-
-
-
-
3Gain-
GUCA1Cp.V206A
Missense
SNP
0.428
2--
GUCY2Cp.V621I
Missense
SNP
0.658
3Gain-
GUSB-
-
-
-
3Gain-
GXYLT1-
-
-
-
3Gain-
GYS1-
-
-
-
3Gain-
GYS2-
-
-
-
3Gain-
H1FNT-
-
-
-
3Gain-
H2AFJ-
-
-
-
3Gain-
H2AFV-
-
-
-
3Gain-
H3F3C-
-
-
-
3Gain-
H6PDp.H354R
Missense
SNP
0.432
2--
HACE1-
-
-
-
3Gain-
HAL-
-
-
-
3Gain-
HAMP-
-
-
-
3Gain-
HAND2p.X186_splice
Splice_Site
SNP
0.438
2--
HAS1p.A158T
Missense
SNP
0.180
3Gain-
HAUS5-
-
-
-
3Gain-
HBP1-
-
-
-
3Gain-
HCAR1-
-
-
-
3Gain-
HCAR2-
-
-
-
3Gain-
HCAR3-
-
-
-
3Gain-
HCFC1R1p.Q5*
Nonsense
SNP
0.444
2--
HCFC2-
-
-
-
3Gain-
HCST-
-
-
-
3Gain-
HDAC7-
-
-
-
3Gain-
HDAC9-
-
-
-
3Gain-
HDXp.K628*
Nonsense
SNP
0.469
NDND-
HEBP1-
-
-
-
3Gain-
HECTD4p.A3193V
Missense
SNP
0.708
3Gain-
HECW1-
-
-
-
3Gain-
HELB-
-
-
-
3Gain-
HEPACAM2-
-
-
-
3Gain-
HERPUD2-
-
-
-
3Gain-
HGF-
-
-
-
3Gain-
HIBADH-
-
-
-
3Gain-
HIF3A-
-
-
-
3Gain-
HIGD1C-
-
-
-
3Gain-
HILPDA-
-
-
-
3Gain-
HIP1-
-
-
-
3Gain-
HIP1R-
-
-
-
3Gain-
HIPK4p.R63*
Nonsense
SNP
0.760
3Gain-
HIST3H2Ap.G38C
Missense
SNP
0.482
2--
HIST4H4-
-
-
-
3Gain-
HKR1-
-
-
-
3Gain-
HMGA2-
-
-
-
3Gain-
HNF1A-
-
-
-
3Gain-
HNRNPA1-
-
-
-
3Gain-
HNRNPA2B1-
-
-
-
3Gain-
HNRNPLp.A37V
Missense
SNP
0.369
3Gain-
HNRNPUL1-
-
-
-
3Gain-
HOXA1-
-
-
-
3Gain-
HOXA10-
-
-
-
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13-
-
-
-
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3-
-
-
-
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HOXC10-
-
-
-
3Gain-
HOXC11-
-
-
-
3Gain-
HOXC12-
-
-
-
3Gain-
HOXC13-
-
-
-
3Gain-
HOXC4-
-
-
-
3Gain-
HOXC5-
-
-
-
3Gain-
HOXC6-
-
-
-
3Gain-
HOXC8-
-
-
-
3Gain-
HOXC9-
-
-
-
3Gain-
HPp.V44M
Missense
SNP
0.550
2--
HPD-
-
-
-
3Gain-
HPN-
-
-
-
3Gain-
HRC-
-
-
-
3Gain-
HRK-
-
-
-
3Gain-
HSD17B14-
-
-
-
3Gain-
HSD17B6-
-
-
-
3Gain-
HSP90AB1p.V656L
Missense
SNP
1.000
2--
HSP90B1-
-
-
-
3Gain-
HSPB1-
-
-
-
3Gain-
HSPB6-
-
-
-
3Gain-
HSPB8-
-
-
-
3Gain-
HSPBP1-
-
-
-
3Gain-
HTR1Fp.A73V
Missense
SNP
0.509
2--
HTR3Ap.R56H
Missense
SNP
0.547
2--
HTR5A-
-
-
-
3Gain-
HUS1-
-
-
-
3Gain-
HVCN1-
-
-
-
3Gain-
HYAL4-
-
-
-
3Gain-
HYLS1p.S113L
Missense
SNP
0.487
2--
IAPP-
-
-
-
3Gain-
ICA1-
-
-
-
3Gain-
IFFO1-
-
-
-
3Gain-
IFNG-
-
-
-
3Gain-
IFNL1-
-
-
-
3Gain-
IFNL2-
-
-
-
3Gain-
IFNL3-
-
-
-
3Gain-
IFRD1-
-
-
-
3Gain-
IFT22-
-
-
-
3Gain-
IFT80p.A345V
Missense
SNP
0.527
2--
IFT81-
-
-
-
3Gain-
IGF1-
-
-
-
3Gain-
IGF2BP3-
-
-
-
3Gain-
IGFBP1-
-
-
-
3Gain-
IGFBP3-
-
-
-
3Gain-
IGFBP6p.S144A
p.R197Q
Missense
Missense
SNP
SNP
0.659
0.660
3Gain-
IGFL1-
-
-
-
3Gain-
IGFL2-
-
-
-
3Gain-
IGFL3-
-
-
-
3Gain-
IGFL4-
-
-
-
3Gain-
IGFLR1-
-
-
-
3Gain-
IGKV1-12p.Q28E
Missense
SNP
0.301
NDND-
IGKV1D-8p.Q49K
Missense
SNP
0.495
NDND-
IGLON5-
-
-
-
3Gain-
IGSF23-
-
-
-
3Gain-
IGSF9Bp.M330I
Missense
SNP
0.442
2--
IKBIP-
-
-
-
3Gain-
IKZF1-
-
-
-
3Gain-
IKZF4-
-
-
-
3Gain-
IL11-
-
-
-
3Gain-
IL1RAPL2p.R147H
Missense
SNP
0.456
NDND-
IL22-
-
-
-
3Gain-
IL23A-
-
-
-
3Gain-
IL26-
-
-
-
3Gain-
IL31-
-
-
-
3Gain-
IL4I1-
-
-
-
3Gain-
IL6-
-
-
-
3Gain-
ILF3p.R541C
Missense
SNP
0.110
2--
IMMP2L-
-
-
-
3Gain-
IMPDH1-
-
-
-
3Gain-
INAFM1-
-
-
-
3Gain-
ING3-
-
-
-
3Gain-
ING4-
-
-
-
3Gain-
INHBA-
-
-
-
3Gain-
INHBC-
-
-
-
3Gain-
INHBE-
-
-
-
3Gain-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INPP5Dp.G450S
Missense
SNP
0.502
2--
INSIG1-
-
-
-
3Gain-
INSRp.V200I
Missense
SNP
0.500
2--
INTS1-
-
-
-
3Gain-
INTS13-
-
-
-
3Gain-
IPO8-
-
-
-
3Gain-
IQCD-
-
-
-
3Gain-
IQCE-
-
-
-
3Gain-
IQSEC3-
-
-
-
3Gain-
IQUB-
-
-
-
3Gain-
IRAK3-
-
-
-
3Gain-
IRAK4-
-
-
-
3Gain-
IRF2BP1-
-
-
-
3Gain-
IRF3-
-
-
-
3Gain-
IRF5-
-
-
-
3Gain-
IRGC-
-
-
-
3Gain-
IRGQp.G344C
Missense
SNP
0.248
3Gain-
ISCU-
-
-
-
3Gain-
ISOC2-
-
-
-
3Gain-
ISPD-
-
-
-
3Gain-
ITFG2-
-
-
-
3Gain-
ITGA5-
-
-
-
3Gain-
ITGA7-
-
-
-
3Gain-
ITGA8p.G379S
Missense
SNP
0.486
2--
ITGB7-
-
-
-
3Gain-
ITGB8-
-
-
-
3Gain-
ITPKC-
-
-
-
3Gain-
ITPR2-
-
-
-
3Gain-
ITPRID1-
-
-
-
1Loss-
IZUMO1-
-
-
-
3Gain-
IZUMO2-
-
-
-
3Gain-
JADE2p.R260*
Nonsense
SNP
0.503
2--
JAK1p.V1037I
Missense
SNP
0.458
2--
JAZF1-
-
-
-
3Gain-
JMYp.A706V
Missense
SNP
0.452
2--
JOSD2-
-
-
-
3Gain-
KANK2p.R488*
Nonsense
SNP
0.545
2--
KANSL2-
-
-
-
3Gain-
KAT6Ap.T1455A
Missense
SNP
0.502
2--
KBTBD2-
-
-
-
1Loss-
KBTBD6p.D444G
Missense
SNP
0.448
2--
KCNA1-
-
-
-
3Gain-
KCNA5-
-
-
-
3Gain-
KCNA6p.R200H
Missense
SNP
0.305
3Gain-
KCNA7-
-
-
-
3Gain-
KCNC2-
-
-
-
3Gain-
KCNC3-
-
-
-
3Gain-
KCND2-
-
-
-
5Amp-
KCNH2-
-
-
-
3Gain-
KCNH3-
-
-
-
3Gain-
KCNJ14-
-
-
-
3Gain-
KCNJ8-
-
-
-
3Gain-
KCNK15p.G75D
Missense
SNP
0.527
2--
KCNK6-
-
-
-
3Gain-
KCNMB4-
-
-
-
3Gain-
KCNN1p.R302C
Missense
SNP
0.519
2--
KCNN4-
-
-
-
3Gain-
KCNT2-
-
-
-
3Gain-
KCPp.H964R
Missense
SNP
0.703
3Gain-
KCTD10-
-
-
-
3Gain-
KCTD12p.R115H
Missense
SNP
0.495
2--
KCTD15-
-
-
-
3Gain-
KCTD17p.P258L
Missense
SNP
0.447
2--
KCTD7-
-
-
-
3Gain-
KDELR1-
-
-
-
3Gain-
KDELR2-
-
-
-
3Gain-
KDM2B-
-
-
-
3Gain-
KDM5A-
-
-
-
3Gain-
KDRp.A666T
Missense
SNP
0.510
2--
KEAP1p.A321V
Missense
SNP
0.477
2--
KEL-
-
-
-
3Gain-
KERA-
-
-
-
3Gain-
KIAA0141p.G163D
Missense
SNP
0.482
NDND-
KIAA0196p.L251M
Missense
SNP
0.450
NDND-
KIAA0355p.P698H
Missense
SNP
0.266
3Gain-
KIAA0895-
-
-
-
3Gain-
KIAA1210p.W1089C
Missense
SNP
0.453
NDND-
KIAA1217p.R299H
Missense
SNP
0.541
2--
KIAA1324L-
-
-
-
3Gain-
KIAA1551-
-
-
-
3Gain-
KIAA1586p.E565G
Missense
SNP
0.381
2--
KIF19p.H582Y
Missense
SNP
0.550
2--
KIF21A-
-
-
-
3Gain-
KIF2Bp.R174C
Missense
SNP
0.504
2--
KIF5A-
-
-
-
3Gain-
KIR2DL1-
-
-
-
3Gain-
KIR2DL3-
-
-
-
3Gain-
KIR2DL4-
-
-
-
3Gain-
KIR3DL1-
-
-
-
3Gain-
KIR3DL2-
-
-
-
3Gain-
KIR3DL3-
-
-
-
3Gain-
KIRREL2-
-
-
-
3Gain-
KITLG-
-
-
-
3Gain-
KLC3-
-
-
-
3Gain-
KLF14-
-
-
-
3Gain-
KLF4p.R205L
Missense
SNP
0.476
2--
KLHDC10-
-
-
-
3Gain-
KLHL42-
-
-
-
3Gain-
KLHL7-
-
-
-
3Gain-
KLK1-
-
-
-
3Gain-
KLK10-
-
-
-
3Gain-
KLK11-
-
-
-
3Gain-
KLK12-
-
-
-
3Gain-
KLK13-
-
-
-
3Gain-
KLK14-
-
-
-
3Gain-
KLK15-
-
-
-
3Gain-
KLK2-
-
-
-
3Gain-
KLK3-
-
-
-
3Gain-
KLK4-
-
-
-
3Gain-
KLK5-
-
-
-
3Gain-
KLK6-
-
-
-
3Gain-
KLK7-
-
-
-
3Gain-
KLK8-
-
-
-
3Gain-
KLK9-
-
-
-
3Gain-
KLLN-
-
-
-
1Loss-
KLRB1-
-
-
-
3Gain-
KLRC1-
-
-
-
3Gain-
KLRC2-
-
-
-
3Gain-
KLRC3-
-
-
-
3Gain-
KLRC4-
-
-
-
3Gain-
KLRC4-KLRK1-
-
-
-
3Gain-
KLRD1-
-
-
-
3Gain-
KLRF1-
-
-
-
3Gain-
KLRF2-
-
-
-
3Gain-
KLRG1-
-
-
-
3Gain-
KLRK1-
-
-
-
3Gain-
KMT2B-
-
-
-
3Gain-
KMT2C-
-
-
-
3Gain-
KMT2Dp.P594L
Missense
SNP
0.655
3Gain-
KMT2E-
-
-
-
3Gain-
KMT5A-
-
-
-
3Gain-
KMT5C-
-
-
-
3Gain-
KNOP1p.R240G
Missense
SNP
0.443
2--
KNTC1-
-
-
-
3Gain-
KPNA7-
-
-
-
3Gain-
KPTN-
-
-
-
3Gain-
KRAS-
-
-
-
3Gain-
KRBA1-
-
-
-
3Gain-
KRIT1-
-
-
-
3Gain-
KRR1-
-
-
-
3Gain-
KRT1-
-
-
-
3Gain-
KRT17p.T375M
p.P127S
Missense
Missense
SNP
SNP
0.609
0.519
2--
KRT18-
-
-
-
3Gain-
KRT2-
-
-
-
3Gain-
KRT3-
-
-
-
3Gain-
KRT4-
-
-
-
3Gain-
KRT5-
-
-
-
3Gain-
KRT6A-
-
-
-
3Gain-
KRT6B-
-
-
-
3Gain-
KRT6C-
-
-
-
3Gain-
KRT7-
-
-
-
3Gain-
KRT71-
-
-
-
3Gain-
KRT72-
-
-
-
3Gain-
KRT73-
-
-
-
3Gain-
KRT74-
-
-
-
3Gain-
KRT75-
-
-
-
3Gain-
KRT76-
-
-
-
3Gain-
KRT77-
-
-
-
3Gain-
KRT78-
-
-
-
3Gain-
KRT79-
-
-
-
3Gain-
KRT8-
-
-
-
3Gain-
KRT80-
-
-
-
3Gain-
KRT81-
-
-
-
3Gain-
KRT82-
-
-
-
3Gain-
KRT83-
-
-
-
3Gain-
KRT84-
-
-
-
3Gain-
KRT85-
-
-
-
3Gain-
KRT86-
-
-
-
3Gain-
KRTAP20-2p.R12C
Missense
SNP
0.535
2--
KRTDAP-
-
-
-
3Gain-
KSR2-
-
-
-
3Gain-
KTN1p.M185T
Missense
SNP
0.474
2--
L34079.1-
-
-
-
3Gain-
L3MBTL3p.G556V
Missense
SNP
0.404
2--
LACRT-
-
-
-
3Gain-
LACTBL1p.R270C
Missense
SNP
0.349
2--
LAG3-
-
-
-
3Gain-
LAIR1-
-
-
-
3Gain-
LAIR2-
-
-
-
3Gain-
LALBA-
-
-
-
3Gain-
LAMA1p.A1899T
Missense
SNP
0.497
2--
LAMA3p.T3259I
Missense
SNP
0.461
2--
LAMB1-
-
-
-
3Gain-
LAMB4-
-
-
-
3Gain-
LAMC1p.T66A
Missense
SNP
0.470
2--
LAMTOR4-
-
-
-
3Gain-
LANCL2-
-
-
-
3Gain-
LARP4-
-
-
-
3Gain-
LAT2-
-
-
-
3Gain-
LBPp.D283Y
Missense
SNP
0.561
2--
LDHB-
-
-
-
3Gain-
LDLRAD1p.T49N
Missense
SNP
0.552
2--
LDLRAD2p.A92T
Missense
SNP
0.465
2--
LEFTY2p.X246_splice
Splice_Site
SNP
0.435
2--
LEMD3-
-
-
-
3Gain-
LENG1-
-
-
-
3Gain-
LENG8-
-
-
-
3Gain-
LENG9-
-
-
-
3Gain-
LEO1p.R532C
Missense
SNP
0.474
2--
LEP-
-
-
-
3Gain-
LETMD1-
-
-
-
3Gain-
LEUTX-
-
-
-
3Gain-
LFNG-
-
-
-
3Gain-
LGALS13-
-
-
-
3Gain-
LGALS14-
-
-
-
3Gain-
LGALS16-
-
-
-
3Gain-
LGALS4-
-
-
-
3Gain-
LGALS7-
-
-
-
3Gain-
LGALS7B-
-
-
-
3Gain-
LGI4-
-
-
-
3Gain-
LGR5-
-
-
-
3Gain-
LHFPL3-
-
-
-
3Gain-
LHX3p.V19A
Missense
SNP
0.449
2--
LHX5-
-
-
-
3Gain-
LIG1-
-
-
-
3Gain-
LILRA1-
-
-
-
3Gain-
LILRA2-
-
-
-
3Gain-
LILRA4-
-
-
-
3Gain-
LILRA5-
-
-
-
3Gain-
LILRA6-
-
-
-
3Gain-
LILRB1-
-
-
-
3Gain-
LILRB2-
-
-
-
3Gain-
LILRB3-
-
-
-
3Gain-
LILRB4-
-
-
-
3Gain-
LILRB5-
-
-
-
3Gain-
LIM2-
-
-
-
3Gain-
LIMA1-
-
-
-
3Gain-
LIMK1-
-
-
-
3Gain-
LIMS2p.E200D
Missense
SNP
0.600
2--
LIN37-
-
-
-
3Gain-
LIN7A-
-
-
-
3Gain-
LIN7B-
-
-
-
3Gain-
LIPE-
-
-
-
3Gain-
LLCFC1-
-
-
-
3Gain-
LLGL2p.R491C
Missense
SNP
0.545
2--
LLPH-
-
-
-
3Gain-
LMBR1-
-
-
-
3Gain-
LMBR1L-
-
-
-
3Gain-
LMF2p.M20V
Missense
SNP
0.442
2--
LMNTD1-
-
-
-
3Gain-
LMO3-
-
-
-
3Gain-
LMOD2-
-
-
-
3Gain-
LMTK2-
-
-
-
3Gain-
LMTK3-
-
-
-
3Gain-
LONRF2p.R575W
Missense
SNP
0.459
2--
LOXp.D188N
Missense
SNP
0.512
2--
LOXHD1p.A530T
Missense
SNP
0.531
2--
LPAR5-
-
-
-
3Gain-
LPCAT3-
-
-
-
3Gain-
LRBAp.M687I
Missense
SNP
0.566
2--
LRCH1p.T19A
Missense
SNP
0.383
2--
LRCH4-
-
-
-
3Gain-
LRCOL1-
-
-
-
3Gain-
LRFN1-
-
-
-
3Gain-
LRFN3p.E501D
Missense
SNP
0.291
3Gain-
LRIG3-
-
-
-
3Gain-
LRMP-
-
-
-
3Gain-
LRP1-
-
-
-
3Gain-
LRP3-
-
-
-
3Gain-
LRP6-
-
-
-
3Gain-
LRRC1p.L7M
Missense
SNP
0.511
2--
LRRC10-
-
-
-
3Gain-
LRRC17-
-
-
-
3Gain-
LRRC23-
-
-
-
3Gain-
LRRC32p.R143W
Missense
SNP
0.480
2--
LRRC4-
-
-
-
3Gain-
LRRC43-
-
-
-
3Gain-
LRRC4Bp.I222T
Missense
SNP
0.263
3Gain-
LRRC61-
-
-
-
3Gain-
LRRC72-
-
-
-
3Gain-
LRRC8Ap.Q14*
Nonsense
SNP
0.482
2--
LRRD1-
-
-
-
3Gain-
LRRIQ1p.S1273I
Missense
SNP
0.664
3Gain-
LRRK2-
-
-
-
3Gain-
LRRN3-
-
-
-
3Gain-
LRRTM4-
-
-
-
3Gain-
LRTM2-
-
-
-
3Gain-
LRWD1-
-
-
-
3Gain-
LSM14A-
-
-
-
3Gain-
LSM5-
-
-
-
1Loss-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LSP1p.W358R
Missense
SNP
0.397
2--
LSR-
-
-
-
3Gain-
LTA4H-
-
-
-
3Gain-
LTBP4-
-
-
-
3Gain-
LTBR-
-
-
-
3Gain-
LUM-
-
-
-
3Gain-
LYG2p.Q160*
Nonsense
SNP
0.518
2--
LYPD3-
-
-
-
3Gain-
LYPD4-
-
-
-
3Gain-
LYPD5-
-
-
-
3Gain-
LYZ-
-
-
-
3Gain-
M6PR-
-
-
-
3Gain-
MACC1-
-
-
-
3Gain-
MAD1L1-
-
-
-
3Gain-
MAFK-
-
-
-
3Gain-
MAGp.T36M
Missense
SNP
0.255
3Gain-
MAGEE1p.A18V
Missense
SNP
0.536
NDND-
MAGI2-
-
-
-
3Gain-
MAGOHB-
-
-
-
3Gain-
MAKp.A628V
Missense
SNP
0.583
2--
MALSU1-
-
-
-
3Gain-
MAMSTR-
-
-
-
3Gain-
MANSC1-
-
-
-
3Gain-
MANSC4-
-
-
-
3Gain-
MAP1LC3B2-
-
-
-
3Gain-
MAP3K10-
-
-
-
3Gain-
MAP3K12-
-
-
-
3Gain-
MAP3K4p.T276A
p.G1139C
Missense
Missense
SNP
SNP
0.462
0.465
2--
MAP4K1p.P654L
Missense
SNP
0.746
3Gain-
MAPKAPK5-
-
-
-
3Gain-
MARCH9-
-
-
-
3Gain-
MARK4-
-
-
-
3Gain-
MARSp.L202I
Missense
SNP
0.326
3Gain-
MAS1p.L194P
Missense
SNP
0.426
2--
MAST2p.T1283A
Missense
SNP
0.405
2--
MATN4p.A158V
Missense
SNP
0.539
2--
MBD6-
-
-
-
3Gain-
MBLAC1-
-
-
-
3Gain-
MBOAT7-
-
-
-
3Gain-
MCF2p.X761_splice
Splice_Site
SNP
0.537
NDND-
MCM7-
-
-
-
3Gain-
MCRS1-
-
-
-
3Gain-
MDFIC-
-
-
-
3Gain-
MDH2-
-
-
-
3Gain-
MDM1-
-
-
-
3Gain-
MDM2-
-
-
-
3Gain-
MED12Lp.Q1307*
Nonsense
SNP
0.448
2--
MED13L-
-
-
-
3Gain-
MED16p.A630V
Missense
SNP
0.516
2--
MED21p.A48P
Missense
SNP
0.552
3Gain-
MED25-
-
-
-
3Gain-
MED27p.P96H
Missense
SNP
0.477
2--
MED29-
-
-
-
3Gain-
MEGF8p.P1939H
Missense
SNP
0.748
3Gain-
MEIS3-
-
-
-
3Gain-
MEOX2-
-
-
-
3Gain-
MEPCE-
-
-
-
3Gain-
MEPEp.K331N
Missense
SNP
0.423
2--
MEST-
-
-
-
3Gain-
MET-
-
-
-
3Gain-
METAP2-
-
-
-
3Gain-
METTL1-
-
-
-
3Gain-
METTL25-
-
-
-
3Gain-
METTL27-
-
-
-
3Gain-
METTL2B-
-
-
-
3Gain-
METTL7A-
-
-
-
3Gain-
METTL7B-
-
-
-
3Gain-
MFAP5-
-
-
-
3Gain-
MFSD13Ap.S180F
Missense
SNP
0.414
2--
MFSD5-
-
-
-
3Gain-
MGAp.R1016*
Nonsense
SNP
0.466
2--
MGAM-
-
-
-
1Loss-
MGAM2-
-
-
-
3Gain-
MGAT4C-
-
-
-
3Gain-
MGP-
-
-
-
3Gain-
MGST1-
-
-
-
3Gain-
MIA-
-
-
-
3Gain-
MIA-RAB4B-
-
-
-
3Gain-
MICALL2-
-
-
-
3Gain-
MINDY4-
-
-
-
3Gain-
MINPP1-
-
-
-
1Loss-
MIOS-
-
-
-
3Gain-
MIP-
-
-
-
3Gain-
MISPp.R346H
Missense
SNP
0.576
2--
MKLN1-
-
-
-
3Gain-
MLC1p.T320M
Missense
SNP
0.570
2--
MLEC-
-
-
-
3Gain-
MLF2-
-
-
-
3Gain-
MLIPp.P668S
Missense
SNP
0.534
2--
MLLT1p.R548H
Missense
SNP
0.508
2--
MLXIP-
-
-
-
3Gain-
MLXIPL-
-
-
-
3Gain-
MMAB-
-
-
-
3Gain-
MMD2-
-
-
-
3Gain-
MMP17-
-
-
-
3Gain-
MMP19-
-
-
-
3Gain-
MMP23B-
-
-
-
1Loss-
MNX1-
-
-
-
3Gain-
MOGAT3-
-
-
-
3Gain-
MON2-
-
-
-
3Gain-
MORF4L1p.Y239C
Missense
SNP
0.623
2--
MORN3-
-
-
-
3Gain-
MOSPD3-
-
-
-
3Gain-
MPGp.A37T
Missense
SNP
0.486
2--
MPHOSPH9-
-
-
-
3Gain-
MPLKIP-
-
-
-
3Gain-
MPP6-
-
-
-
3Gain-
MRM2-
-
-
-
3Gain-
MROH2Bp.R835W
Missense
SNP
0.543
2--
MRPL15p.V211A
Missense
SNP
0.483
2--
MRPL16p.R199*
Nonsense
SNP
0.486
2--
MRPL19p.R271S
Missense
SNP
0.471
2--
MRPL32-
-
-
-
3Gain-
MRPL42-
-
-
-
3Gain-
MRPL51-
-
-
-
3Gain-
MRPS12-
-
-
-
3Gain-
MRPS17-
-
-
-
3Gain-
MRPS24-
-
-
-
3Gain-
MRPS35-
-
-
-
3Gain-
MRS2p.G382*
Nonsense
SNP
0.565
2--
MSI1p.A281T
Missense
SNP
0.333
3Gain-
MSRB3-
-
-
-
3Gain-
MTERF1-
-
-
-
3Gain-
MTERF2-
-
-
-
3Gain-
MTERF4p.L180I
Missense
SNP
0.480
2--
MTMR12-
-
-
-
3Gain-
MTMR3p.T887I
Missense
SNP
0.460
2--
MTORp.R1905G
Missense
SNP
0.488
2--
MTURN-
-
-
-
3Gain-
MUC12-
-
-
-
3Gain-
MUC16p.K14265E
Missense
SNP
0.534
2--
MUC17-
-
-
-
3Gain-
MUC19-
-
-
-
3Gain-
MUC3A-
-
-
-
3Gain-
MUC4p.Q5315K
p.D3157N
Missense
Missense
SNP
SNP
0.213
0.110
2--
MUCL1-
-
-
-
3Gain-
MVK-
-
-
-
3Gain-
MXRA8p.A177T
Missense
SNP
0.431
2--
MYADMp.T229I
Missense
SNP
0.282
3Gain-
MYBPC1-
-
-
-
3Gain-
MYBPC2-
-
-
-
3Gain-
MYEF2p.X142_splice
Splice_Site
SNP
0.471
2--
MYF5-
-
-
-
3Gain-
MYF6-
-
-
-
3Gain-
MYH14-
-
-
-
3Gain-
MYL10-
-
-
-
3Gain-
MYL2-
-
-
-
3Gain-
MYL6-
-
-
-
3Gain-
MYL6B-
-
-
-
3Gain-
MYL7-
-
-
-
3Gain-
MYO1A-
-
-
-
3Gain-
MYO1G-
-
-
-
3Gain-
MYO1H-
-
-
-
3Gain-
MYO5A-
-
-
-
1LossMYO5A--BCL2L10
MYO5C-
-
-
-
1Loss-
MYPOP-
-
-
-
3Gain-
MYRFL-
-
-
-
3Gain-
MYSM1p.Y655H
Missense
SNP
0.435
2--
MZF1-
-
-
-
3Gain-
NAA25-
-
-
-
3Gain-
NAB2-
-
-
-
3Gain-
NABP2-
-
-
-
3Gain-
NACA-
-
-
-
3Gain-
NACADp.E652D
Missense
SNP
0.320
3Gain-
NAGAp.A337T
Missense
SNP
0.552
2--
NAMPT-
-
-
-
3Gain-
NANOG-
-
-
-
3Gain-
NANOGNB-
-
-
-
3Gain-
NANOS2-
-
-
-
3Gain-
NAP1L1-
-
-
-
3Gain-
NAPA-
-
-
-
3Gain-
NAPEPLD-
-
-
-
3Gain-
NAPSA-
-
-
-
3Gain-
NAT14-
-
-
-
3Gain-
NAT16-
-
-
-
3Gain-
NAV3p.L565S
Missense
SNP
0.680
3Gain-
NCAPD2p.D1245G
Missense
SNP
0.637
3Gain-
NCAPD3p.S1150G
Missense
SNP
0.464
2--
NCAPG2-
-
-
-
3Gain-
NCCRP1-
-
-
-
3Gain-
NCF1-
-
-
-
3Gain-
NCKAP1Lp.L1099M
Missense
SNP
0.276
3Gain-
NCKAP5L-
-
-
-
3Gain-
NCKIPSDp.R399H
Missense
SNP
0.487
2--
NCOR2-
-
-
-
3Gain-
NCR1-
-
-
-
3Gain-
NDUFA12-
-
-
-
3Gain-
NDUFA3-
-
-
-
3Gain-
NDUFA4-
-
-
-
3Gain-
NDUFA4L2-
-
-
-
3Gain-
NDUFA5-
-
-
-
3Gain-
NDUFA9-
-
-
-
3Gain-
NECAP1-
-
-
-
3Gain-
NECTIN2-
-
-
-
3Gain-
NEDD1-
-
-
-
3Gain-
NEK4-
-
-
-
3Gain-
NELL2p.G841D
Missense
SNP
0.638
3Gain-
NEMP1-
-
-
-
3Gain-
NEO1p.V446M
Missense
SNP
0.579
2--
NEUROD4-
-
-
-
3Gain-
NEUROD6-
-
-
-
1Loss-
NFE2-
-
-
-
3Gain-
NFE2L3-
-
-
-
3Gain-
NFE4-
-
-
-
3Gain-
NFKBIB-
-
-
-
3Gain-
NFKBID-
-
-
-
3Gain-
NFYB-
-
-
-
3Gain-
NHSp.S617I
Missense
SNP
0.519
NDND-
NINJ2-
-
-
-
3Gain-
NIPBLp.S858T
Missense
SNP
0.471
2--
NIPSNAP2-
-
-
-
3Gain-
NIT1p.F12S
Missense
SNP
0.552
2--
NKG7-
-
-
-
3Gain-
NKPD1-
-
-
-
3Gain-
NLRC4p.A687T
Missense
SNP
0.500
2--
NLRP11-
-
-
-
3Gain-
NLRP12-
-
-
-
3Gain-
NLRP13-
-
-
-
3Gain-
NLRP2-
-
-
-
3Gain-
NLRP4-
-
-
-
3Gain-
NLRP5-
-
-
-
3Gain-
NLRP7-
-
-
-
3Gain-
NLRP8-
-
-
-
3Gain-
NLRP9-
-
-
-
3Gain-
NME8-
-
-
-
3Gain-
NOBOX-
-
-
-
3Gain-
NOC2Lp.A517V
Missense
SNP
0.500
2--
NOC4L-
-
-
-
3Gain-
NOD1-
-
-
-
3Gain-
NOM1-
-
-
-
3Gain-
NOP2-
-
-
-
3Gain-
NOP53-
-
-
-
3Gain-
NOP58p.A477T
Missense
SNP
0.500
2--
NOS1-
-
-
-
3Gain-
NOS3-
-
-
-
3Gain-
NOSIP-
-
-
-
3Gain-
NOVA2-
-
-
-
3Gain-
NPAS1-
-
-
-
3Gain-
NPC1L1-
-
-
-
3Gain-
NPFF-
-
-
-
3Gain-
NPHP3p.G235*
Nonsense
SNP
0.515
2--
NPHS1-
-
-
-
3Gain-
NPR1p.L20P
p.G653V
Missense
Missense
SNP
SNP
0.581
0.409
2--
NPSR1-
-
-
-
3Gain-
NPTX2-
-
-
-
3Gain-
NPVF-
-
-
-
3Gain-
NPY-
-
-
-
3Gain-
NR0B1p.A92V
Missense
SNP
0.473
NDND-
NR0B2p.P74S
Missense
SNP
0.380
2--
NR1H2-
-
-
-
3Gain-
NR1H4-
-
-
-
3Gain-
NR2C1-
-
-
-
3Gain-
NR3C1p.A428D
Missense
SNP
0.468
2--
NR4A1-
-
-
-
3Gain-
NRCAM-
-
-
-
3Gain-
NRF1-
-
-
-
3Gain-
NRIP2-
-
-
-
3Gain-
NRXN1p.G1100E
Missense
SNP
0.465
2--
NSUN5-
-
-
-
3Gain-
NT5C3A-
-
-
-
1Loss-
NT5DC3-
-
-
-
3Gain-
NTF3-
-
-
-
3Gain-
NTF4-
-
-
-
3Gain-
NTN4-
-
-
-
3Gain-
NTN5-
-
-
-
3Gain-
NTS-
-
-
-
3Gain-
NUAK1-
-
-
-
3Gain-
NUB1-
-
-
-
3Gain-
NUCB1-
-
-
-
3Gain-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT19-
-
-
-
3Gain-
NUDT4-
-
-
-
3Gain-
NUMBL-
-
-
-
3Gain-
NUP107-
-
-
-
3Gain-
NUP155-
-
-
-
1Loss-
NUP35p.P281S
Missense
DNP
0.401
2--
NUP37-
-
-
-
3Gain-
NUP62-
-
-
-
3Gain-
NUPL2-
-
-
-
3Gain-
NUPR2-
-
-
-
3Gain-
NXPH1-
-
-
-
3Gain-
NXPH4-
-
-
-
3Gain-
NYAP1-
-
-
-
3Gain-
OAS1-
-
-
-
3Gain-
OAS2-
-
-
-
3Gain-
OAS3-
-
-
-
3Gain-
OASL-
-
-
-
3Gain-
OBSCNp.T1195M
p.V8379G
Missense
Missense
SNP
SNP
0.469
0.560
2--
OCM-
-
-
-
3Gain-
OCM2p.A90V
Missense
SNP
0.649
3Gain-
ODF2p.Q777*
Nonsense
SNP
0.454
2--
OGDH-
-
-
-
3Gain-
OGFOD2-
-
-
-
3Gain-
OLR1-
-
-
-
3Gain-
ONECUT3p.V120M
Missense
SNP
0.327
2--
OPA3-
-
-
-
3Gain-
OPLAHp.V1043A
p.K92R
Missense
Missense
SNP
SNP
0.538
0.538
2--
OPN1SW-
-
-
-
3Gain-
OR10A7-
-
-
-
3Gain-
OR10AD1-
-
-
-
3Gain-
OR10G7p.H154R
Missense
SNP
0.477
2--
OR10P1-
-
-
-
3Gain-
OR2A1-
-
-
-
3Gain-
OR2A12-
-
-
-
3Gain-
OR2A14-
-
-
-
3Gain-
OR2A2-
-
-
-
3Gain-
OR2A25-
-
-
-
3Gain-
OR2A42-
-
-
-
3Gain-
OR2A5-
-
-
-
3Gain-
OR2A7-
-
-
-
3Gain-
OR2AE1-
-
-
-
3Gain-
OR2AP1-
-
-
-
3Gain-
OR2F1-
-
-
-
3Gain-
OR2F2-
-
-
-
3Gain-
OR4C6p.G202V
Missense
SNP
0.508
2--
OR51I2p.G208D
Missense
SNP
0.473
2--
OR51V1p.F174V
Missense
SNP
0.523
2--
OR5BS1P-
-
-
-
3Gain-
OR6B1-
-
-
-
3Gain-
OR6C1-
-
-
-
3Gain-
OR6C2-
-
-
-
3Gain-
OR6C3-
-
-
-
3Gain-
OR6C4-
-
-
-
3Gain-
OR6C6-
-
-
-
3Gain-
OR6C65-
-
-
-
3Gain-
OR6C68-
-
-
-
3Gain-
OR6C70-
-
-
-
3Gain-
OR6C74-
-
-
-
3Gain-
OR6C75-
-
-
-
3Gain-
OR6C76-
-
-
-
3Gain-
OR6S1p.A118V
Missense
SNP
0.474
2--
OR6V1-
-
-
-
3Gain-
OR7E47P-
-
-
-
3Gain-
OR8D4p.C189*
Nonsense
SNP
0.461
2--
OR8S1-
-
-
-
3Gain-
OR9A2-
-
-
-
3Gain-
OR9K2-
-
-
-
3Gain-
ORAI1-
-
-
-
3Gain-
ORAI2-
-
-
-
3Gain-
ORC5-
-
-
-
3Gain-
ORMDL2-
-
-
-
3Gain-
OS9-
-
-
-
3Gain-
OSBPL3-
-
-
-
3Gain-
OSBPL7p.L328P
Missense
SNP
0.477
2--
OSBPL8-
-
-
-
3Gain-
OSCAR-
-
-
-
3Gain-
OTOGL-
-
-
-
3Gain-
OTPp.A157S
Missense
SNP
0.463
2--
OVCH1-
-
-
-
3Gain-
OVOL3-
-
-
-
3Gain-
P2RX2-
-
-
-
3Gain-
P2RX4-
-
-
-
3Gain-
P2RX7-
-
-
-
3Gain-
P3H3-
-
-
-
3Gain-
PA2G4-
-
-
-
3Gain-
PABPC4L-
-
-
-
3Gain-
PAF1-
-
-
-
3Gain-
PAFAH1B3-
-
-
-
3Gain-
PAH-
-
-
-
3Gain-
PAK4-
-
-
-
3Gain-
PALMp.C384*
Nonsense
SNP
0.648
2--
PALM2-AKAP2p.A152T
Missense
SNP
0.459
2--
PAN2-
-
-
-
3Gain-
PAPOLB-
-
-
-
3Gain-
PAPPA2-
-
-
-
1Loss-
PAPSS2-
-
-
-
1Loss-
PARP10p.P639H
Missense
SNP
0.562
2--
PARP11-
-
-
-
3Gain-
PARPBP-
-
-
-
3Gain-
PAWR-
-
-
-
3Gain-
PAX4-
-
-
-
3Gain-
PAXIP1-
-
-
-
3Gain-
PBRM1p.S1548G
Missense
SNP
0.479
2--
PCBP2-
-
-
-
3Gain-
PCDH10p.A494T
Missense
SNP
0.521
3Gain-
PCDH17-
-
-
-
3Gain-
PCDH18p.R1133H
Missense
SNP
0.504
3Gain-
PCDH7-
-
-
-
3Gain-
PCDH9-
-
-
-
3Gain-
PCDHA11p.R501H
p.V664M
Missense
Missense
SNP
SNP
0.466
0.551
2--
PCDHA3p.A618V
Missense
SNP
0.494
2--
PCDHA4p.I337T
Missense
SNP
0.492
2--
PCDHA8p.Y518H
Missense
SNP
0.521
2--
PCDHB1p.G15R
p.A262T
Missense
Missense
SNP
SNP
0.414
0.469
2--
PCDHB15p.D234G
Missense
SNP
0.442
2--
PCDHB4p.R717M
Missense
SNP
0.545
2--
PCDHB7p.V228M
Missense
SNP
0.472
2--
PCED1B-
-
-
-
3Gain-
PCK2p.R469H
Missense
SNP
0.500
2--
PCLO-
-
-
-
3Gain-
PCNTp.I1676M
Missense
SNP
0.510
2--
PCOLCE-
-
-
-
3Gain-
PCSK6p.X172_splice
Splice_Site
SNP
0.492
2--
PDAP1-
-
-
-
3Gain-
PDC-
-
-
-
3Gain-
PDCD2L-
-
-
-
3Gain-
PDCD5-
-
-
-
3Gain-
PDE1B-
-
-
-
3Gain-
PDE1C-
-
-
-
1Loss-
PDE3A-
-
-
-
3Gain-
PDE6H-
-
-
-
3Gain-
PDGFA-
-
-
-
3Gain-
PDIA4-
-
-
-
3Gain-
PDK4-
-
-
-
3Gain-
PDZRN4-
-
-
-
3Gain-
PEBP1-
-
-
-
3Gain-
PEG10-
-
-
-
3Gain-
PEG3-
-
-
-
3Gain-
PELI1p.G368V
Missense
SNP
0.530
2--
PEMTp.C90Y
Missense
SNP
0.438
2--
PEPD-
-
-
-
3Gain-
PEX1-
-
-
-
3Gain-
PEX12p.L130P
Missense
SNP
0.492
2--
PEX2p.A107V
Missense
SNP
0.483
2--
PEX5-
-
-
-
3Gain-
PFDN5-
-
-
-
3Gain-
PFKM-
-
-
-
3Gain-
PFN3p.R16C
Missense
SNP
0.547
2--
PGAM2-
-
-
-
3Gain-
PGAM5-
-
-
-
3Gain-
PGLSp.T97M
Missense
SNP
0.521
2--
PGLYRP1-
-
-
-
3Gain-
PHACTR3p.S17L
Missense
SNP
0.524
2--
PHB2-
-
-
-
3Gain-
PHC1-
-
-
-
3Gain-
PHETA1-
-
-
-
3Gain-
PHF14-
-
-
-
3Gain-
PHIPp.G843D
Missense
SNP
0.478
2--
PHKG1-
-
-
-
3Gain-
PHLDA1-
-
-
-
3Gain-
PHLDB3-
-
-
-
3Gain-
PHTF2-
-
-
-
3Gain-
PIANP-
-
-
-
3Gain-
PIDD1p.D781Y
p.I567T
Missense
Missense
SNP
SNP
0.561
0.504
2--
PIH1D1-
-
-
-
3Gain-
PIK3C2G-
-
-
-
3Gain-
PIK3CG-
-
-
-
3Gain-
PIK3R5p.A473T
Missense
SNP
0.471
2--
PILRA-
-
-
-
3Gain-
PILRB-
-
-
-
3Gain-
PIM2p.R274Q
p.A216V
Missense
Missense
SNP
SNP
0.571
0.500
NDND-
PIN4p.T121A
Missense
SNP
0.444
NDND-
PINLYP-
-
-
-
3Gain-
PIP-
-
-
-
3Gain-
PIP4K2C-
-
-
-
3Gain-
PITPNM2-
-
-
-
3Gain-
PIWIL1-
-
-
-
3Gain-
PIWIL2p.I964V
Missense
SNP
0.523
2--
PIWIL3p.T643I
Missense
SNP
0.443
2--
PJA1p.T352M
Missense
SNP
0.483
NDND-
PKD1L1-
-
-
-
3Gain-
PKP2-
-
-
-
3Gain-
PLA2G1B-
-
-
-
3Gain-
PLA2G4A-
-
-
-
3Gain-
PLA2G4C-
-
-
-
3Gain-
PLAURp.G330D
Missense
SNP
0.262
3Gain-
PLBD1-
-
-
-
3Gain-
PLBD2-
-
-
-
3Gain-
PLCZ1-
-
-
-
3Gain-
PLD3-
-
-
-
3Gain-
PLEKHA4-
-
-
-
3Gain-
PLEKHA5-
-
-
-
3Gain-
PLEKHA8-
-
-
-
3Gain-
PLEKHF1-
-
-
-
3Gain-
PLEKHG2-
-
-
-
3Gain-
PLEKHG4Bp.L402F
Missense
SNP
0.494
2--
PLEKHG6-
-
-
-
3Gain-
PLEKHG7-
-
-
-
3Gain-
PLOD3-
-
-
-
3Gain-
PLXNA4p.R1556*
Nonsense
SNP
0.618
3Gain-
PLXNC1-
-
-
-
3Gain-
PMCH-
-
-
-
3Gain-
PMEL-
-
-
-
3Gain-
PMLp.T391A
Missense
SNP
0.438
2--
PMPCB-
-
-
-
3Gain-
PMS2-
-
-
-
3Gain-
PNKP-
-
-
-
3Gain-
PNLDC1p.R199M
Missense
SNP
0.557
2--
PNMA8A-
-
-
-
3Gain-
PNMA8B-
-
-
-
3Gain-
PNPLA8-
-
-
-
3Gain-
POC1B-
-
-
-
3Gain-
POC1B-GALNT4-
-
-
-
3Gain-
PODXL-
-
-
-
3Gain-
POLD1p.R444W
Missense
SNP
0.233
3Gain-
POLD2-
-
-
-
3Gain-
POLE-
-
-
-
3Gain-
POLLp.P105R
Missense
SNP
0.236
2--
POLM-
-
-
-
3Gain-
POLR2Bp.A69T
Missense
SNP
0.505
2--
POLR2I-
-
-
-
3Gain-
POLR2J-
-
-
-
3Gain-
POLR2J2-
-
-
-
3Gain-
POLR2J3-
-
-
-
3Gain-
POLR3B-
-
-
-
3Gain-
POM121-
-
-
-
3Gain-
POM121C-
-
-
-
3Gain-
POM121L12p.R163C
Missense
SNP
0.651
3Gain-
POMZP3-
-
-
-
3Gain-
PON1-
-
-
-
3Gain-
PON2-
-
-
-
3Gain-
PON3-
-
-
-
3Gain-
POP4-
-
-
-
3Gain-
POP5-
-
-
-
3Gain-
POP7-
-
-
-
3Gain-
POR-
-
-
-
3Gain-
POT1-
-
-
-
3Gain-
POU2F2-
-
-
-
3Gain-
POU4F3p.V66I
Missense
SNP
0.426
2--
POU6F1-
-
-
-
3Gain-
POU6F2-
-
-
-
3Gain-
PPFIA2-
-
-
-
3Gain-
PPFIA3-
-
-
-
3Gain-
PPFIBP1-
-
-
-
3Gain-
PPHLN1-
-
-
-
3Gain-
PPIA-
-
-
-
3Gain-
PPM1H-
-
-
-
3Gain-
PPM1N-
-
-
-
3Gain-
PPOXp.A150S
Missense
SNP
0.509
2--
PPP1CC-
-
-
-
3Gain-
PPP1R12A-
-
-
-
3Gain-
PPP1R12C-
-
-
-
3Gain-
PPP1R13L-
-
-
-
3Gain-
PPP1R14A-
-
-
-
3Gain-
PPP1R15A-
-
-
-
3Gain-
PPP1R17-
-
-
-
1Loss-
PPP1R1A-
-
-
-
3Gain-
PPP1R35-
-
-
-
3Gain-
PPP1R37-
-
-
-
3Gain-
PPP1R3A-
-
-
-
3Gain-
PPP1R9A-
-
-
-
3Gain-
PPP2R1A-
-
-
-
3Gain-
PPP2R5Dp.T358I
Missense
SNP
1.000
2--
PPP5Cp.Q405R
Missense
SNP
0.738
3Gain-
PPP5D1-
-
-
-
3Gain-
PPP6R1-
-
-
-
3Gain-
PPTC7-
-
-
-
3Gain-
PRAG1-
-
-
-
1Loss-
PRAMEp.R116M
Missense
SNP
0.571
2--
PRB1-
-
-
-
3Gain-
PRB2-
-
-
-
3Gain-
PRB3-
-
-
-
3Gain-
PRB4-
-
-
-
3Gain-
PRDM4-
-
-
-
3Gain-
PRDM9-
-
-
-
3Gain-
PREX2p.G7R
Missense
SNP
0.450
2--
PRH1-
-
-
-
3Gain-
PRH1-PRR4-
-
-
-
3Gain-
PRH2-
-
-
-
3Gain-
PRICKLE1-
-
-
-
3Gain-
PRIM1-
-
-
-
3Gain-
PRKAB1-
-
-
-
3Gain-
PRKAG1-
-
-
-
3Gain-
PRKAG2-
-
-
-
3Gain-
PRKAG3p.P384H
Missense
SNP
0.537
2--
PRKAR1B-
-
-
-
3Gain-
PRKAR2B-
-
-
-
3Gain-
PRKCGp.A465D
Missense
SNP
0.201
3Gain-
PRKD2-
-
-
-
3Gain-
PRKRIP1-
-
-
-
3Gain-
PRKXp.R120H
Missense
SNP
0.443
NDND-
PRMT1-
-
-
-
3Gain-
PRMT8-
-
-
-
3Gain-
PRMT9p.D558Y
Missense
SNP
0.450
2--
PRODH2-
-
-
-
3Gain-
PROSER3p.P90S
Missense
SNP
0.301
3Gain-
PRPF31-
-
-
-
3Gain-
PRPF40B-
-
-
-
3Gain-
PRPH-
-
-
-
3Gain-
PRPS1L1-
-
-
-
3Gain-
PRR12-
-
-
-
3Gain-
PRR13-
-
-
-
3Gain-
PRR15-
-
-
-
3Gain-
PRR19-
-
-
-
3Gain-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR4-
-
-
-
3Gain-
PRRG2-
-
-
-
3Gain-
PRRT4-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS2-
-
-
-
3Gain-
PRSS58-
-
-
-
3Gain-
PRX-
-
-
-
3Gain-
PSENEN-
-
-
-
3Gain-
PSG1-
-
-
-
3Gain-
PSG11-
-
-
-
3Gain-
PSG2-
-
-
-
3Gain-
PSG3-
-
-
-
3Gain-
PSG4-
-
-
-
3Gain-
PSG5-
-
-
-
3Gain-
PSG6-
-
-
-
3Gain-
PSG7-
-
-
-
3Gain-
PSG8-
-
-
-
3Gain-
PSG9-
-
-
-
3Gain-
PSMA2-
-
-
-
3Gain-
PSMC2-
-
-
-
3Gain-
PSMC4-
-
-
-
3Gain-
PSMD14p.P19L
Missense
SNP
0.567
2--
PSMD8-
-
-
-
3Gain-
PSMD9-
-
-
-
3Gain-
PSMG3-
-
-
-
3Gain-
PSPH-
-
-
-
3Gain-
PTCD1-
-
-
-
3Gain-
PTENp.F347V
Missense
SNP
1.000
1Loss-
PTGES3-
-
-
-
3Gain-
PTGIR-
-
-
-
3Gain-
PTGS2-
-
-
-
3Gain-
PTH2-
-
-
-
3Gain-
PTHLH-
-
-
-
3Gain-
PTMS-
-
-
-
3Gain-
PTOV1p.C359Y
Missense
SNP
0.260
3Gain-
PTPN11-
-
-
-
3Gain-
PTPN12-
-
-
-
3Gain-
PTPN6-
-
-
-
3Gain-
PTPN9p.E454*
Nonsense
SNP
0.658
2--
PTPRB-
-
-
-
3Gain-
PTPRHp.Y1102*
Nonsense
SNP
0.207
3Gain-
PTPRN2-
-
-
-
3Gain-
PTPRO-
-
-
-
3Gain-
PTPRQ-
-
-
-
3Gain-
PTPRR-
-
-
-
3Gain-
PTPRSp.R1102C
p.G673C
p.A2V
Missense
Missense
Missense
SNP
SNP
SNP
0.512
0.556
0.543
2--
PTPRZ1-
-
-
-
3Gain-
PURB-
-
-
-
3Gain-
PUS1-
-
-
-
3Gain-
PUS7-
-
-
-
3Gain-
PUS7L-
-
-
-
3Gain-
PVR-
-
-
-
3Gain-
PVRIG-
-
-
-
3Gain-
PWP1-
-
-
-
3Gain-
PXMP2-
-
-
-
3Gain-
PXN-
-
-
-
3Gain-
PYM1-
-
-
-
3Gain-
PYROXD1-
-
-
-
3Gain-
PZP-
-
-
-
3Gain-
QPCTp.A138T
Missense
SNP
0.500
2--
QPCTL-
-
-
-
3Gain-
R3HDM2-
-
-
-
3Gain-
RAB21-
-
-
-
3Gain-
RAB35-
-
-
-
3Gain-
RAB3Ap.L207P
Missense
SNP
0.615
2--
RAB3IP-
-
-
-
3Gain-
RAB4B-
-
-
-
3Gain-
RAB4B-EGLN2-
-
-
-
3Gain-
RAB5B-
-
-
-
3Gain-
RABAC1-
-
-
-
3Gain-
RABGEF1-
-
-
-
3Gain-
RAC1-
-
-
-
3Gain-
RACGAP1-
-
-
-
3Gain-
RAD50p.D1294N
Missense
SNP
0.495
2--
RAD51AP1-
-
-
-
3Gain-
RAD52-
-
-
-
3Gain-
RAD9B-
-
-
-
3Gain-
RADIL-
-
-
-
3Gain-
RAI2p.A110V
Missense
SNP
0.521
NDND-
RALA-
-
-
-
3Gain-
RAMP3-
-
-
-
3Gain-
RAN-
-
-
-
3Gain-
RAP1B-
-
-
-
3Gain-
RAPGEF3p.G226C
Missense
SNP
0.404
3Gain-
RAPGEF5-
-
-
-
3Gain-
RARG-
-
-
-
3Gain-
RARRES2-
-
-
-
3Gain-
RASA4-
-
-
-
3Gain-
RASA4B-
-
-
-
3Gain-
RASAL1-
-
-
-
3Gain-
RASAL3p.G30S
Missense
SNP
0.412
2--
RASGRP4-
-
-
-
3Gain-
RASIP1-
-
-
-
3Gain-
RASL10Ap.A178T
Missense
SNP
0.458
2--
RASSF3-
-
-
-
3Gain-
RASSF8-
-
-
-
3Gain-
RASSF9-
-
-
-
3Gain-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBFOX1p.G319S
Missense
SNP
0.500
2--
RBL2p.K395T
Missense
SNP
0.384
2--
RBM19-
-
-
-
3Gain-
RBM28-
-
-
-
3Gain-
RBM33-
-
-
-
3Gain-
RBM42-
-
-
-
3Gain-
RBM48-
-
-
-
3Gain-
RBMS2-
-
-
-
3Gain-
RBP5-
-
-
-
3Gain-
RCC1L-
-
-
-
3Gain-
RCN3-
-
-
-
3Gain-
RDH13p.T241M
Missense
SNP
0.707
3Gain-
RDH16-
-
-
-
3Gain-
RDH5-
-
-
-
3Gain-
RECQL-
-
-
-
3Gain-
RELB-
-
-
-
3Gain-
RELN-
-
-
-
3Gain-
REP15-
-
-
-
3Gain-
REPIN1-
-
-
-
3Gain-
REREp.R287C
Missense
SNP
0.464
2--
RERG-
-
-
-
3Gain-
RERGL-
-
-
-
3Gain-
RFC2-
-
-
-
3Gain-
RFC5-
-
-
-
3Gain-
RFLNA-
-
-
-
3Gain-
RFPL4A-
-
-
-
3Gain-
RFPL4AL1-
-
-
-
3Gain-
RFTN2p.K234E
Missense
SNP
0.458
2--
RFX4-
-
-
-
3Gain-
RGL2p.I765T
Missense
SNP
0.496
2--
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS1-
-
-
-
3Gain-
RGS12p.D1380Y
Missense
SNP
0.570
2--
RGS13-
-
-
-
3Gain-
RGS18-
-
-
-
3Gain-
RGS2-
-
-
-
3Gain-
RGS21-
-
-
-
3Gain-
RGS9BP-
-
-
-
3Gain-
RHBDD2-
-
-
-
3Gain-
RHEB-
-
-
-
3Gain-
RHEBL1-
-
-
-
3Gain-
RHNO1-
-
-
-
3Gain-
RHOF-
-
-
-
3Gain-
RHPN2-
-
-
-
3Gain-
RIC8B-
-
-
-
3Gain-
RICTORp.K488E
Missense
SNP
0.548
2--
RIF1p.G1482*
Nonsense
SNP
0.500
2--
RILPL1-
-
-
-
3Gain-
RILPL2-
-
-
-
3Gain-
RIMBP2-
-
-
-
3Gain-
RIMKLB-
-
-
-
3Gain-
RING1p.R146H
Missense
SNP
0.478
2--
RINL-
-
-
-
3Gain-
RINT1-
-
-
-
3Gain-
RITA1-
-
-
-
3Gain-
RMDN3p.S77A
Missense
SNP
0.537
2--
RND1-
-
-
-
3Gain-
RNF10-
-
-
-
3Gain-
RNF128p.G124R
Missense
SNP
0.492
NDND-
RNF133-
-
-
-
3Gain-
RNF139p.R496W
Missense
SNP
0.506
2--
RNF148-
-
-
-
3Gain-
RNF213p.V3709I
Missense
SNP
0.468
2--
RNF214p.X274_splice
Splice_Site
SNP
0.473
2--
RNF216-
-
-
-
3Gain-
RNF225-
-
-
-
3Gain-
RNF32-
-
-
-
3Gain-
RNF34-
-
-
-
3Gain-
RNF41-
-
-
-
3Gain-
RNF43p.A136T
Missense
SNP
0.515
2--
RNFT2-
-
-
-
3Gain-
RNLS-
-
-
-
1Loss-
ROBO1p.R261T
Missense
SNP
0.489
2--
RORBp.E225D
Missense
SNP
0.503
2--
RP9-
-
-
-
1Loss-
RPA3-
-
-
-
3Gain-
RPAP3-
-
-
-
3Gain-
RPH3A-
-
-
-
3Gain-
RPL10Lp.G161V
Missense
SNP
0.519
2--
RPL11p.Y92H
Missense
SNP
0.612
2--
RPL13A-
-
-
-
3Gain-
RPL18-
-
-
-
3Gain-
RPL28-
-
-
-
3Gain-
RPL41-
-
-
-
3Gain-
RPL6-
-
-
-
3Gain-
RPLP0-
-
-
-
3Gain-
RPS11-
-
-
-
3Gain-
RPS16-
-
-
-
3Gain-
RPS19-
-
-
-
3Gain-
RPS26-
-
-
-
3Gain-
RPS5-
-
-
-
3Gain-
RPS6KA3p.E124D
Missense
SNP
0.357
NDND-
RPS6KL1p.T55A
Missense
SNP
0.484
2--
RPS9-
-
-
-
3Gain-
RRAS-
-
-
-
3Gain-
RSBN1L-
-
-
-
3Gain-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPH6A-
-
-
-
3Gain-
RSRC2-
-
-
-
3Gain-
RTL1p.V341D
Missense
SNP
0.512
2--
RTN1p.P441S
Missense
SNP
0.470
2--
RTN2-
-
-
-
3Gain-
RUNDC3B-
-
-
-
3Gain-
RUVBL2-
-
-
-
3Gain-
RXYLT1-
-
-
-
3Gain-
RYR1p.R1593W
p.A2566V
Missense
Missense
SNP
SNP
0.733
0.335
3Gain-
RYR3p.G1925V
p.C4377R
Missense
Missense
SNP
SNP
0.573
0.491
2--
S1PR5p.L95R
Missense
SNP
0.500
2--
SAE1-
-
-
-
3Gain-
SAGp.R193Q
Missense
SNP
0.538
2--
SALL3p.A1103P
Missense
SNP
0.485
2--
SAMD4B-
-
-
-
3Gain-
SAMD9-
-
-
-
3Gain-
SAMD9L-
-
-
-
3Gain-
SAP25-
-
-
-
3Gain-
SARNP-
-
-
-
3Gain-
SARS2-
-
-
-
3Gain-
SART3-
-
-
-
3Gain-
SASH1p.H292R
Missense
SNP
0.498
2--
SASS6p.L32P
Missense
SNP
0.381
2--
SAXO1p.A376S
Missense
SNP
0.420
2--
SBDS-
-
-
-
3Gain-
SBK2-
-
-
-
3Gain-
SBK3-
-
-
-
3Gain-
SBNO1-
-
-
-
3Gain-
SBSN-
-
-
-
3Gain-
SCAF1-
-
-
-
3Gain-
SCAF11-
-
-
-
3Gain-
SCAPERp.Q243H
Missense
SNP
0.404
2--
SCARB1-
-
-
-
3Gain-
SCGB2B2-
-
-
-
3Gain-
SCIN-
-
-
-
3Gain-
SCN1B-
-
-
-
3Gain-
SCN8A-
-
-
-
3Gain-
SCN9Ap.X301_splice
Splice_Site
SNP
0.481
2--
SCNM1p.G82R
Missense
SNP
0.549
2--
SCNN1A-
-
-
-
3Gain-
SCRN1-
-
-
-
3Gain-
SCRT1p.R3G
Missense
SNP
0.517
2--
SCTRp.P15L
Missense
SNP
0.452
2--
SCYL2-
-
-
-
3Gain-
SDHAF1-
-
-
-
3Gain-
SDHAF3-
-
-
-
3Gain-
SDK1-
-
-
-
3Gain-
SDR9C7-
-
-
-
3Gain-
SDS-
-
-
-
3Gain-
SDSL-
-
-
-
3Gain-
SEC24Dp.H763R
Missense
SNP
0.554
2--
SEC61G-
-
-
-
3Gain-
SELENOV-
-
-
-
3Gain-
SELENOW-
-
-
-
3Gain-
SELPLG-
-
-
-
3Gain-
SEM1-
-
-
-
3Gain-
SEMA3A-
-
-
-
3Gain-
SEMA3C-
-
-
-
3Gain-
SEMA3Dp.R710W
Missense
SNP
0.323
3Gain-
SEMA3E-
-
-
-
3Gain-
SEMA6Dp.A682T
p.S710A
Missense
Missense
SNP
SNP
0.571
0.562
2--
SENP1-
-
-
-
3Gain-
SEPSECSp.A82T
Missense
SNP
0.497
2--
SEPT14-
-
-
-
3Gain-
SEPT4p.H483Y
p.M198I
Missense
Missense
SNP
SNP
0.403
0.494
2--
SEPT7-
-
-
-
3Gain-
SERPINE1-
-
-
-
3Gain-
SERTAD1-
-
-
-
3Gain-
SERTAD3-
-
-
-
3Gain-
SESTD1p.Q313*
Nonsense
SNP
0.474
2--
SETD1Bp.L869R
Missense
SNP
0.318
3Gain-
SEZ6p.T232I
Missense
SNP
0.577
2--
SFRP4-
-
-
-
3Gain-
SFSWAP-
-
-
-
3Gain-
SGCE-
-
-
-
3Gain-
SH2B2-
-
-
-
3Gain-
SH2B3-
-
-
-
3Gain-
SH2D4Ap.K30E
Missense
SNP
0.439
2--
SHANK1-
-
-
-
3Gain-
SHH-
-
-
-
3Gain-
SHISA7-
-
-
-
3Gain-
SHKBP1-
-
-
-
3Gain-
SHLD2-
-
-
-
1Loss-
SHMT2-
-
-
-
3Gain-
SIGLEC10-
-
-
-
3Gain-
SIGLEC11-
-
-
-
3Gain-
SIGLEC12-
-
-
-
3Gain-
SIGLEC14-
-
-
-
3Gain-
SIGLEC5-
-
-
-
3Gain-
SIGLEC6-
-
-
-
3Gain-
SIGLEC7-
-
-
-
3Gain-
SIGLEC8-
-
-
-
3Gain-
SIGLEC9-
-
-
-
3Gain-
SIGLECL1-
-
-
-
3Gain-
SINHCAF-
-
-
-
3Gain-
SIPA1L3p.D245G
Missense
SNP
0.764
3Gain-
SIRT2-
-
-
-
3Gain-
SIRT4-
-
-
-
3Gain-
SIX5-
-
-
-
3Gain-
SKAP2-
-
-
-
3Gain-
SKOR2p.V85M
Missense
SNP
0.531
2--
SLC11A1-
-
-
-
1Loss-
SLC11A2-
-
-
-
3Gain-
SLC12A4p.M625T
Missense
SNP
0.328
2--
SLC12A8p.G632D
Missense
SNP
0.546
2--
SLC12A9-
-
-
-
3Gain-
SLC13A1-
-
-
-
3Gain-
SLC15A4-
-
-
-
3Gain-
SLC15A5-
-
-
-
3Gain-
SLC16A2p.A237V
Missense
SNP
0.510
NDND-
SLC16A7-
-
-
-
3Gain-
SLC16A8p.R498M
Missense
SNP
0.451
2--
SLC17A7-
-
-
-
3Gain-
SLC17A8-
-
-
-
3Gain-
SLC1A5-
-
-
-
3Gain-
SLC25A13-
-
-
-
3Gain-
SLC25A3-
-
-
-
3Gain-
SLC25A40p.T34S
Missense
SNP
0.665
3Gain-
SLC26A10-
-
-
-
3Gain-
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC27A5-
-
-
-
3Gain-
SLC29A4-
-
-
-
3Gain-
SLC2A13-
-
-
-
3Gain-
SLC2A14-
-
-
-
3Gain-
SLC2A3-
-
-
-
3Gain-
SLC30A4p.D281N
Missense
SNP
0.479
2--
SLC35E2A-
-
-
-
1Loss-
SLC35E2B-
-
-
-
1Loss-
SLC35E3-
-
-
-
3Gain-
SLC38A1-
-
-
-
3Gain-
SLC38A2-
-
-
-
3Gain-
SLC38A4-
-
-
-
3Gain-
SLC39A5-
-
-
-
3Gain-
SLC39A6p.H387R
Missense
SNP
0.479
2--
SLC41A2-
-
-
-
3Gain-
SLC45A4p.I800F
Missense
SNP
0.504
2--
SLC48A1-
-
-
-
3Gain-
SLC4A2-
-
-
-
3Gain-
SLC4A3p.R1091C
Missense
SNP
0.406
2--
SLC4A8-
-
-
-
3Gain-
SLC5A12p.X408_splice
Splice_Site
SNP
0.536
2--
SLC5A8-
-
-
-
3Gain-
SLC6A12-
-
-
-
3Gain-
SLC6A13-
-
-
-
3Gain-
SLC6A15-
-
-
-
3Gain-
SLC6A16-
-
-
-
3Gain-
SLC6A9p.F441V
Missense
SNP
0.512
2--
SLC7A10-
-
-
-
3Gain-
SLC7A9p.A354T
Missense
SNP
0.386
3Gain-
SLC8A2-
-
-
-
3Gain-
SLC8B1-
-
-
-
3Gain-
SLCO1A2-
-
-
-
3Gain-
SLCO1B1-
-
-
-
3Gain-
SLCO1B3-
-
-
-
3Gain-
SLCO1B7-
-
-
-
3Gain-
SLCO1C1-
-
-
-
3Gain-
SLCO2A1p.P535L
Missense
SNP
0.440
2--
SLITRK1-
-
-
-
3Gain-
SLITRK2p.R310C
Missense
SNP
0.486
NDND-
SLITRK5-
-
-
-
3Gain-
SLITRK6-
-
-
-
3Gain-
SMAGP-
-
-
-
3Gain-
SMARCAL1p.K19T
Missense
SNP
0.542
2--
SMARCC2-
-
-
-
3Gain-
SMARCD1-
-
-
-
3Gain-
SMARCD3-
-
-
-
3Gain-
SMCO2-
-
-
-
3Gain-
SMCO3-
-
-
-
3Gain-
SMG9-
-
-
-
3Gain-
SMIM17-
-
-
-
3Gain-
SMIM30-
-
-
-
3Gain-
SMKR1-
-
-
-
3Gain-
SMO-
-
-
-
3Gain-
SMTNp.P25L
Missense
SNP
0.573
2--
SMUG1-
-
-
-
3Gain-
SMURF1-
-
-
-
3Gain-
SNAP23p.X142_splice
Splice_Site
SNP
0.466
2--
SND1-
-
-
-
3Gain-
SNRNP35-
-
-
-
3Gain-
SNRNP70-
-
-
-
3Gain-
SNRPA-
-
-
-
3Gain-
SNRPD2-
-
-
-
3Gain-
SNRPF-
-
-
-
3Gain-
SNTB2p.V28A
Missense
SNP
0.403
2--
SNX10-
-
-
-
3Gain-
SNX13-
-
-
-
3Gain-
SNX19p.C91S
Missense
SNP
0.500
2--
SNX8-
-
-
-
3Gain-
SOAT2-
-
-
-
3Gain-
SOCS2-
-
-
-
3Gain-
SOGA1p.L140M
Missense
SNP
0.526
2--
SORL1p.A377T
Missense
SNP
0.516
2--
SORT1p.D698N
Missense
SNP
0.539
2--
SOSTDC1-
-
-
-
3Gain-
SOX5-
-
-
-
3Gain-
SP1-
-
-
-
3Gain-
SP4-
-
-
-
3Gain-
SP7-
-
-
-
3Gain-
SP8-
-
-
-
3Gain-
SPACA4-
-
-
-
3Gain-
SPACA6-
-
-
-
3Gain-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAG9p.M513V
Missense
SNP
0.464
2--
SPAM1p.G385*
Nonsense
SNP
0.286
3Gain-
SPATA48-
-
-
-
3Gain-
SPATS2-
-
-
-
3Gain-
SPCS1-
-
-
-
3Gain-
SPDYE3-
-
-
-
3Gain-
SPEGp.L1462I
Missense
SNP
0.540
2--
SPENp.L2662P
Missense
SNP
0.558
2--
SPHK2-
-
-
-
3Gain-
SPIB-
-
-
-
3Gain-
SPIC-
-
-
-
3Gain-
SPINT2-
-
-
-
3Gain-
SPPL3-
-
-
-
3Gain-
SPRED2p.G125C
Missense
SNP
0.545
2--
SPRED3-
-
-
-
3Gain-
SPRYD3-
-
-
-
3Gain-
SPRYD4-
-
-
-
3Gain-
SPSB2-
-
-
-
3Gain-
SPTBN4-
-
-
-
3Gain-
SPTLC2p.V493A
Missense
SNP
0.497
2--
SPTLC3p.Q410K
Missense
SNP
0.445
2--
SPX-
-
-
-
3Gain-
SRD5A2-
-
-
-
1Loss-
SREBF2p.S879F
Missense
SNP
0.495
2--
SRGAP1-
-
-
-
3Gain-
SRI-
-
-
-
3Gain-
SRPK2-
-
-
-
3Gain-
SRRM2p.R2673W
Missense
SNP
0.453
2--
SRRM3-
-
-
-
3Gain-
SRRM4-
-
-
-
3Gain-
SRRM5-
-
-
-
3Gain-
SRRT-
-
-
-
3Gain-
SRSF9-
-
-
-
3Gain-
SSC4D-
-
-
-
3Gain-
SSC5D-
-
-
-
3Gain-
SSH1-
-
-
-
3Gain-
SSMEM1-
-
-
-
3Gain-
SSPN-
-
-
-
3Gain-
SSPOp.E1371G
Missense
SNP
0.322
3Gain-
SSTR4p.R251M
Missense
SNP
0.517
2--
SSU72P8-
-
-
-
3Gain-
ST7-
-
-
-
3Gain-
ST8SIA1-
-
-
-
3Gain-
STAB1p.M912T
Missense
SNP
0.508
2--
STAB2-
-
-
-
3Gain-
STAC3-
-
-
-
3Gain-
STAG3-
-
-
-
3Gain-
STARD3NL-
-
-
-
3Gain-
STARD5p.L141F
Missense
SNP
0.494
2--
STARD8p.L750P
Missense
SNP
0.466
NDND-
STAT2-
-
-
-
3Gain-
STAT6-
-
-
-
3Gain-
STEAP1-
-
-
-
3Gain-
STEAP1B-
-
-
-
3Gain-
STEAP2-
-
-
-
3Gain-
STEAP4-
-
-
-
3Gain-
STK17A-
-
-
-
3Gain-
STK31-
-
-
-
3Gain-
STK38L-
-
-
-
3Gain-
STK4p.R117Q
Missense
SNP
0.514
2--
STMND1p.A17V
Missense
SNP
1.000
2--
STRAP-
-
-
-
3Gain-
STRIP2-
-
-
-
3Gain-
STRNp.X164_splice
Splice_Site
SNP
0.536
2--
STRN4-
-
-
-
3Gain-
STX1A-
-
-
-
3Gain-
STX2-
-
-
-
3Gain-
STXBP2p.L419P
Missense
SNP
0.378
2--
STYK1-
-
-
-
3Gain-
STYXL1-
-
-
-
3Gain-
SUDS3-
-
-
-
3Gain-
SUGCT-
-
-
-
3Gain-
SULT2A1-
-
-
-
3Gain-
SULT2B1-
-
-
-
3Gain-
SULT4A1p.X202_splice
Splice_Site
SNP
0.488
2--
SUMF2-
-
-
-
3Gain-
SUN1-
-
-
-
3Gain-
SUN3-
-
-
-
3Gain-
SUOX-
-
-
-
3Gain-
SUPT5H-
-
-
-
3Gain-
SV2Cp.A676V
Missense
SNP
0.537
2--
SVOP-
-
-
-
3Gain-
SYCN-
-
-
-
3Gain-
SYCP2p.S1333I
Missense
SNP
0.517
2--
SYCP3-
-
-
-
3Gain-
SYDE2p.E992A
Missense
SNP
0.489
2--
SYMPK-
-
-
-
3Gain-
SYNE1p.A1802S
Missense
SNP
0.468
2--
SYNE4-
-
-
-
3Gain-
SYNGR4-
-
-
-
3Gain-
SYPL1-
-
-
-
3Gain-
SYT1-
-
-
-
3Gain-
SYT10-
-
-
-
3Gain-
SYT3-
-
-
-
3Gain-
SYT5-
-
-
-
3Gain-
SZT2p.L1046V
Missense
SNP
0.419
2--
TAC1-
-
-
-
3Gain-
TAC3-
-
-
-
3Gain-
TAF1p.R687H
Missense
SNP
0.456
NDND-
TAF1Lp.R888H
Missense
SNP
0.479
2--
TAF5Lp.P201L
Missense
SNP
0.466
2--
TAF6-
-
-
-
3Gain-
TAF6Lp.X146_splice
Splice_Site
SNP
0.469
2--
TANC1p.A184T
Missense
SNP
0.554
2--
TAOK3-
-
-
-
3Gain-
TAPBPL-
-
-
-
3Gain-
TARBP2-
-
-
-
3Gain-
TARM1-
-
-
-
3Gain-
TAS2R10-
-
-
-
3Gain-
TAS2R13-
-
-
-
3Gain-
TAS2R14-
-
-
-
3Gain-
TAS2R16-
-
-
-
3Gain-
TAS2R19-
-
-
-
3Gain-
TAS2R20-
-
-
-
3Gain-
TAS2R30-
-
-
-
3Gain-
TAS2R31-
-
-
-
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R41-
-
-
-
3Gain-
TAS2R42-
-
-
-
3Gain-
TAS2R46-
-
-
-
3Gain-
TAS2R50-
-
-
-
3Gain-
TAS2R60-
-
-
-
3Gain-
TAS2R7-
-
-
-
3Gain-
TAS2R8-
-
-
-
3Gain-
TAS2R9-
-
-
-
3Gain-
TAX1BP1-
-
-
-
3Gain-
TBC1D1p.A687V
Missense
SNP
0.490
2--
TBC1D15-
-
-
-
3Gain-
TBC1D17-
-
-
-
3Gain-
TBC1D30-
-
-
-
3Gain-
TBCB-
-
-
-
3Gain-
TBK1-
-
-
-
3Gain-
TBL2-
-
-
-
3Gain-
TBRG4-
-
-
-
3Gain-
TBX20-
-
-
-
3Gain-
TBX3-
-
-
-
3Gain-
TBX5-
-
-
-
3Gain-
TBXA2Rp.A52T
Missense
SNP
0.626
2--
TCAF1-
-
-
-
3Gain-
TCAF2-
-
-
-
3Gain-
TCF12p.X276_splice
Splice_Site
SNP
0.442
2--
TCF25p.E148K
Missense
SNP
0.422
2--
TCHP-
-
-
-
3Gain-
TCP11L2p.E288K
Missense
SNP
0.702
3Gain-
TCTN1-
-
-
-
3Gain-
TCTN2-
-
-
-
3Gain-
TDG-
-
-
-
3Gain-
TDRD12-
-
-
-
3Gain-
TEAD2p.K75E
Missense
SNP
0.286
3Gain-
TEAD4-
-
-
-
3Gain-
TECp.L454I
Missense
SNP
0.511
2--
TECPR1-
-
-
-
3Gain-
TEKT1p.R413H
Missense
SNP
0.500
2--
TENM2p.T2563I
Missense
SNP
0.531
2--
TES-
-
-
-
3Gain-
TESC-
-
-
-
3Gain-
TESMINp.V63I
Missense
SNP
0.538
2--
TESPA1-
-
-
-
3Gain-
TEX101-
-
-
-
3Gain-
TEX38p.A122V
Missense
SNP
0.509
2--
TEX47-
-
-
-
3Gain-
TEX49-
-
-
-
3Gain-
TEX52-
-
-
-
3Gain-
TFAP2Bp.D64G
Missense
SNP
0.446
2--
TFCP2-
-
-
-
3Gain-
TFEC-
-
-
-
3Gain-
TFPI2-
-
-
-
3Gain-
TFPT-
-
-
-
3Gain-
TFR2-
-
-
-
3Gain-
TGFB1-
-
-
-
3Gain-
TGFB3p.S412R
Missense
SNP
0.544
2--
THADAp.X1607_splice
Splice_Site
SNP
0.464
2--
THAP2-
-
-
-
3Gain-
THAP5-
-
-
-
3Gain-
THAP8-
-
-
-
3Gain-
THSD7A-
-
-
-
3Gain-
TIAM1p.M910T
Missense
SNP
0.495
2--
TIGAR-
-
-
-
3Gain-
TIGD7p.G100D
Missense
SNP
0.503
2--
TIMELESS-
-
-
-
3Gain-
TIMM50-
-
-
-
3Gain-
TKFCp.A296T
Missense
SNP
0.452
2--
TLN2p.H1260R
Missense
SNP
0.528
2--
TM7SF3-
-
-
-
3Gain-
TMBIM4-
-
-
-
3Gain-
TMBIM6-
-
-
-
3Gain-
TMC4-
-
-
-
3Gain-
TMCC3-
-
-
-
3Gain-
TMED2-
-
-
-
3Gain-
TMED4-
-
-
-
3Gain-
TMEM106B-
-
-
-
3Gain-
TMEM106C-
-
-
-
3Gain-
TMEM116-
-
-
-
3Gain-
TMEM117-
-
-
-
3Gain-
TMEM119-
-
-
-
3Gain-
TMEM120A-
-
-
-
3Gain-
TMEM120B-
-
-
-
3Gain-
TMEM130-
-
-
-
3Gain-
TMEM132B-
-
-
-
3Gain-
TMEM132C-
-
-
-
3Gain-
TMEM132D-
-
-
-
3Gain-
TMEM139-
-
-
-
3Gain-
TMEM143-
-
-
-
3Gain-
TMEM145-
-
-
-
3Gain-
TMEM147-
-
-
-
3Gain-
TMEM150B-
-
-
-
3Gain-
TMEM160-
-
-
-
3Gain-
TMEM164p.L90M
Missense
SNP
0.470
NDND-
TMEM168-
-
-
-
3Gain-
TMEM176A-
-
-
-
3Gain-
TMEM176B-
-
-
-
3Gain-
TMEM184A-
-
-
-
3Gain-
TMEM19-
-
-
-
3Gain-
TMEM190-
-
-
-
3Gain-
TMEM196-
-
-
-
3Gain-
TMEM209-
-
-
-
3Gain-
TMEM225B-
-
-
-
3Gain-
TMEM229A-
-
-
-
3Gain-
TMEM233-
-
-
-
3Gain-
TMEM238-
-
-
-
3Gain-
TMEM243-
-
-
-
3Gain-
TMEM248-
-
-
-
3Gain-
TMEM263-
-
-
-
3Gain-
TMEM270-
-
-
-
3Gain-
TMEM52B-
-
-
-
3Gain-
TMEM60-
-
-
-
3Gain-
TMEM63Ap.L420P
Missense
SNP
0.624
2--
TMEM86B-
-
-
-
3Gain-
TMEM91-
-
-
-
3Gain-
TMOD4p.F315S
Missense
SNP
0.484
2--
TMPO-
-
-
-
3Gain-
TMPRSS12-
-
-
-
3Gain-
TMPRSS15p.R871*
Nonsense
SNP
0.467
2--
TMTC1-
-
-
-
3Gain-
TMTC2-
-
-
-
3Gain-
TMTC3-
-
-
-
3Gain-
TMUB1-
-
-
-
3Gain-
TNFAIP8L1p.R53H
Missense
SNP
0.510
2--
TNFRSF1A-
-
-
-
3Gain-
TNNI3-
-
-
-
3Gain-
TNNT1-
-
-
-
3Gain-
TNPO3p.T891I
Missense
SNP
0.673
3Gain-
TNRp.H174R
Missense
SNP
0.436
2--
TNRC18p.R1951H
p.G1663S
Missense
Missense
SNP
SNP
0.362
0.679
3Gain-
TNS1p.*1736Rext*23
p.G1305R
Nonstop
Missense
SNP
SNP
0.430
0.485
2--
TNS2-
-
-
-
3Gain-
TNS3-
-
-
-
3Gain-
TOLLIPp.V216M
Missense
SNP
0.509
2--
TOMM40-
-
-
-
3Gain-
TOMM7-
-
-
-
3Gain-
TOP2Ap.H559R
Missense
SNP
0.465
2--
TP53p.R273C
Missense
SNP
0.441
2--
TPCN1-
-
-
-
3Gain-
TPH2-
-
-
-
3Gain-
TPI1-
-
-
-
3Gain-
TPK1-
-
-
-
3Gain-
TPRX1-
-
-
-
3Gain-
TPST1-
-
-
-
3Gain-
TRA2A-
-
-
-
3Gain-
TRABDp.A242V
Missense
SNP
0.493
2--
TRAFD1-
-
-
-
3Gain-
TRAPPC2B-
-
-
-
3Gain-
TRAPPC6A-
-
-
-
3Gain-
TRAV25p.Q29R
Missense
SNP
0.467
NDND-
TRHDE-
-
-
-
3Gain-
TRIAP1-
-
-
-
3Gain-
TRIB1p.R316H
Missense
SNP
0.491
2--
TRIB3p.P68H
Missense
SNP
0.474
2--
TRIL-
-
-
-
3Gain-
TRIM28-
-
-
-
3Gain-
TRIM4-
-
-
-
3Gain-
TRIM47p.P580A
Missense
SNP
0.478
2--
TRIM50-
-
-
-
3Gain-
TRIM56-
-
-
-
3Gain-
TRIM60p.F121L
Missense
SNP
0.526
2--
TRIM73-
-
-
-
3Gain-
TRIM74-
-
-
-
3Gain-
TRIOp.G2658S
p.A3052V
Missense
Missense
SNP
SNP
0.515
0.466
2--
TRIP12p.K1127N
Missense
SNP
0.504
2--
TRIP6-
-
-
-
3Gain-
TROAP-
-
-
-
3Gain-
TROVE2-
-
-
-
3Gain-
TRPC5p.L358M
Missense
SNP
0.486
NDND-
TRPM4-
-
-
-
3Gain-
TRPS1p.P1096T
Missense
SNP
0.459
2--
TRPV4-
-
-
-
3Gain-
TRPV5-
-
-
-
3Gain-
TRPV6-
-
-
-
3Gain-
TRRAPp.R1859C
Missense
SNP
0.318
3Gain-
TSC1p.R160H
Missense
SNP
0.467
2--
TSC22D4-
-
-
-
3Gain-
TSEN34-
-
-
-
3Gain-
TSFM-
-
-
-
3Gain-
TSGA13-
-
-
-
3Gain-
TSHZ3-
-
-
-
3Gain-
TSKS-
-
-
-
3Gain-
TSNARE1p.R41H
Missense
SNP
0.501
2--
TSPAN11-
-
-
-
3Gain-
TSPAN12-
-
-
-
3Gain-
TSPAN13-
-
-
-
3Gain-
TSPAN14p.V239I
Missense
SNP
0.522
2--
TSPAN19-
-
-
-
3Gain-
TSPAN31-
-
-
-
3Gain-
TSPAN33-
-
-
-
3Gain-
TSPAN8-
-
-
-
3Gain-
TSPAN9-
-
-
-
3Gain-
TSTD3p.L38P
Missense
SNP
0.485
2--
TTC6p.A243T
Missense
SNP
0.492
2--
TTC7Ap.S302N
Missense
SNP
0.516
2--
TTC9B-
-
-
-
3Gain-
TTF2p.T749A
Missense
SNP
0.504
2--
TTLL10p.P601L
Missense
SNP
0.516
2--
TTNp.R22499*
p.P11620H
p.R5678*
Nonsense
Missense
Nonsense
SNP
SNP
SNP
0.372
0.523
0.464
2--
TTYH1-
-
-
-
3Gain-
TTYH2p.A118V
Missense
SNP
0.497
2--
TTYH3-
-
-
-
3Gain-
TUBA1A-
-
-
-
3Gain-
TUBA1B-
-
-
-
3Gain-
TUBA1C-
-
-
-
3Gain-
TULP2-
-
-
-
3Gain-
TULP3-
-
-
-
3Gain-
TWF1-
-
-
-
3Gain-
TWIST1-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TXNDC2p.G25D
Missense
SNP
0.434
2--
TXNRD1-
-
-
-
3Gain-
TYROBP-
-
-
-
3Gain-
TYW1-
-
-
-
3Gain-
TYW1B-
-
-
-
3Gain-
U2AF1L4-
-
-
-
3Gain-
U2AF2-
-
-
-
3Gain-
UBA2-
-
-
-
3Gain-
UBC-
-
-
-
3Gain-
UBE2D4-
-
-
-
3Gain-
UBE2H-
-
-
-
3Gain-
UBE2M-
-
-
-
3Gain-
UBE2N-
-
-
-
3Gain-
UBE2QL1p.X119_splice
Splice_Site
SNP
0.481
2--
UBE2S-
-
-
-
3Gain-
UBE3B-
-
-
-
3Gain-
UBE3C-
-
-
-
3Gain-
UCHL5-
-
-
-
3Gain-
UFSP1-
-
-
-
3Gain-
UGT2A1p.A493D
Missense
SNP
0.529
2--
UGT2A3p.A163P
Missense
SNP
0.451
2--
UHRF1BP1L-
-
-
-
3Gain-
ULK1p.T841M
Missense
SNP
0.318
3Gain-
UMAD1-
-
-
-
3Gain-
UNC119B-
-
-
-
3Gain-
UNCXp.R298C
Missense
SNP
0.239
3Gain-
UNG-
-
-
-
3Gain-
UPK1A-
-
-
-
3Gain-
UPK3B-
-
-
-
3Gain-
UPK3BL1-
-
-
-
3Gain-
UPP1-
-
-
-
3Gain-
UQCRFS1-
-
-
-
3Gain-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
URI1-
-
-
-
3Gain-
USF2-
-
-
-
3Gain-
USH2Ap.V436I
Missense
SNP
0.528
2--
USP15-
-
-
-
3Gain-
USP17L1-
-
-
-
1Loss-
USP17L3-
-
-
-
1Loss-
USP17L4-
-
-
-
1Loss-
USP17L8-
-
-
-
1Loss-
USP19p.R646C
Missense
SNP
0.466
2--
USP29-
-
-
-
3Gain-
USP30-
-
-
-
3Gain-
USP34p.N2832S
Missense
SNP
0.512
2--
USP35p.E119K
Missense
SNP
0.583
2--
USP37-
-
-
-
1Loss-
USP42-
-
-
-
3Gain-
USP44-
-
-
-
3Gain-
USP5-
-
-
-
3Gain-
USP6NLp.G737E
Missense
SNP
0.479
2--
UTF1p.R311C
Missense
SNP
0.469
2--
UTP20-
-
-
-
3Gain-
VAMP1-
-
-
-
3Gain-
VASP-
-
-
-
3Gain-
VCANp.*355Kext*5
Nonstop
SNP
0.667
2--
VDR-
-
-
-
3Gain-
VEZF1p.T233A
Missense
SNP
0.514
2--
VEZT-
-
-
-
3Gain-
VGF-
-
-
-
3Gain-
VIL1-
-
-
-
1Loss-
VIPR2-
-
-
-
3Gain-
VKORC1L1-
-
-
-
3Gain-
VN1R1-
-
-
-
3Gain-
VN1R2-
-
-
-
3Gain-
VN1R4-
-
-
-
3Gain-
VOPP1-
-
-
-
3Gain-
VPS13Dp.T3598I
Missense
SNP
0.533
2--
VPS18p.S59C
Missense
SNP
0.503
2--
VPS29-
-
-
-
3Gain-
VPS33A-
-
-
-
3Gain-
VPS37B-
-
-
-
3Gain-
VPS37D-
-
-
-
3Gain-
VPS41-
-
-
-
3Gain-
VPS50p.N138H
Missense
SNP
0.655
3Gain-
VPS53p.G419A
Missense
SNP
0.503
2--
VRK3-
-
-
-
3Gain-
VSIG10-
-
-
-
3Gain-
VSIG10L-
-
-
-
3Gain-
VSTM1-
-
-
-
3Gain-
VSTM2A-
-
-
-
3Gain-
VSTM2B-
-
-
-
3Gain-
VWC2-
-
-
-
3Gain-
VWDE-
-
-
-
3Gain-
VWF-
-
-
-
3Gain-
WASHC3-
-
-
-
3Gain-
WASHC4-
-
-
-
3Gain-
WASL-
-
-
-
3Gain-
WBP11-
-
-
-
3Gain-
WDR3p.E707D
Missense
SNP
0.337
2--
WDR34p.Q160H
Missense
SNP
0.448
2--
WDR37p.X242_splice
Splice_Site
SNP
0.451
2--
WDR60-
-
-
-
3Gain-
WDR62-
-
-
-
3Gain-
WDR66-
-
-
-
3Gain-
WDR86-
-
-
-
3Gain-
WDR87-
-
-
-
3Gain-
WDR88-
-
-
-
3Gain-
WIF1-
-
-
-
3Gain-
WIPF3-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WNK1-
-
-
-
3Gain-
WNT1-
-
-
-
3Gain-
WNT10B-
-
-
-
3Gain-
WNT16-
-
-
-
3Gain-
WNT2-
-
-
-
3Gain-
WNT5B-
-
-
-
3Gain-
WSB2-
-
-
-
3Gain-
WSCD2-
-
-
-
3Gain-
WT1p.A109V
Missense
SNP
0.592
2--
WTIP-
-
-
-
3Gain-
XDH-
-
-
-
1Loss-
XPOT-
-
-
-
3Gain-
XRCC1-
-
-
-
3Gain-
XRCC2-
-
-
-
3Gain-
YAE1-
-
-
-
3Gain-
YAF2-
-
-
-
3Gain-
YARS2-
-
-
-
3Gain-
YBX3-
-
-
-
3Gain-
YEATS2p.A913T
Missense
SNP
0.500
2--
YEATS4-
-
-
-
3Gain-
YIF1B-
-
-
-
3Gain-
YIPF2p.E68Q
Missense
SNP
0.491
2--
YKT6-
-
-
-
3Gain-
YTHDC2p.V1008I
Missense
SNP
0.477
2--
YWHAG-
-
-
-
3Gain-
ZAN-
-
-
-
3Gain-
ZBED6CL-
-
-
-
3Gain-
ZBTB32-
-
-
-
3Gain-
ZBTB39-
-
-
-
3Gain-
ZBTB40p.A1174V
Missense
SNP
0.466
2--
ZBTB45-
-
-
-
3Gain-
ZC3H10-
-
-
-
3Gain-
ZC3H4-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZCCHC14p.A852T
Missense
DNP
0.481
2--
ZCCHC8-
-
-
-
3Gain-
ZCRB1p.S168G
Missense
SNP
0.286
3Gain-
ZCWPW1-
-
-
-
3Gain-
ZDHHC11p.Q45H
Missense
SNP
0.383
2--
ZDHHC17-
-
-
-
3Gain-
ZDHHC4-
-
-
-
3Gain-
ZFAND2Ap.M149T
Missense
SNP
0.309
3Gain-
ZFC3H1-
-
-
-
3Gain-
ZFP14-
-
-
-
3Gain-
ZFP28-
-
-
-
3Gain-
ZFP30-
-
-
-
3Gain-
ZFP36-
-
-
-
3Gain-
ZFP37p.T637A
Missense
SNP
0.449
2--
ZFP82-
-
-
-
3Gain-
ZFYVE1p.R54C
Missense
SNP
0.496
2--
ZG16p.V131I
Missense
SNP
0.520
2--
ZHX3p.V93M
Missense
SNP
0.483
2--
ZIK1-
-
-
-
3Gain-
ZIM2-
-
-
-
3Gain-
ZIM3-
-
-
-
3Gain-
ZKSCAN1-
-
-
-
3Gain-
ZKSCAN5-
-
-
-
3Gain-
ZMIZ2-
-
-
-
3Gain-
ZNF10-
-
-
-
3Gain-
ZNF107-
-
-
-
3Gain-
ZNF112-
-
-
-
3Gain-
ZNF114-
-
-
-
3Gain-
ZNF117-
-
-
-
3Gain-
ZNF12-
-
-
-
3Gain-
ZNF132-
-
-
-
3Gain-
ZNF134-
-
-
-
3Gain-
ZNF135-
-
-
-
3Gain-
ZNF138-
-
-
-
3Gain-
ZNF140-
-
-
-
3Gain-
ZNF142p.C1259Y
Missense
SNP
0.414
2--
ZNF146-
-
-
-
3Gain-
ZNF154-
-
-
-
3Gain-
ZNF155-
-
-
-
3Gain-
ZNF160-
-
-
-
3Gain-
ZNF17-
-
-
-
3Gain-
ZNF175-
-
-
-
3Gain-
ZNF180-
-
-
-
3Gain-
ZNF181-
-
-
-
3Gain-
ZNF211-
-
-
-
3Gain-
ZNF212-
-
-
-
3Gain-
ZNF221-
-
-
-
3Gain-
ZNF222-
-
-
-
3Gain-
ZNF223-
-
-
-
3Gain-
ZNF224-
-
-
-
3Gain-
ZNF225-
-
-
-
3Gain-
ZNF226-
-
-
-
3Gain-
ZNF227p.M83I
Missense
SNP
0.681
3Gain-
ZNF229-
-
-
-
3Gain-
ZNF230-
-
-
-
3Gain-
ZNF233-
-
-
-
3Gain-
ZNF234-
-
-
-
3Gain-
ZNF235-
-
-
-
3Gain-
ZNF256-
-
-
-
3Gain-
ZNF26-
-
-
-
3Gain-
ZNF260-
-
-
-
3Gain-
ZNF264-
-
-
-
3Gain-
ZNF268-
-
-
-
3Gain-
ZNF273-
-
-
-
3Gain-
ZNF274-
-
-
-
3Gain-
ZNF277-
-
-
-
3Gain-
ZNF28-
-
-
-
3Gain-
ZNF282-
-
-
-
3Gain-
ZNF283-
-
-
-
3Gain-
ZNF284-
-
-
-
3Gain-
ZNF285-
-
-
-
3Gain-
ZNF296-
-
-
-
3Gain-
ZNF3-
-
-
-
3Gain-
ZNF30-
-
-
-
3Gain-
ZNF302-
-
-
-
3Gain-
ZNF304-
-
-
-
3Gain-
ZNF316-
-
-
-
3Gain-
ZNF320-
-
-
-
3Gain-
ZNF324-
-
-
-
3Gain-
ZNF324B-
-
-
-
3Gain-
ZNF329-
-
-
-
3Gain-
ZNF331-
-
-
-
3Gain-
ZNF345-
-
-
-
3Gain-
ZNF347-
-
-
-
3Gain-
ZNF350-
-
-
-
3Gain-
ZNF382-
-
-
-
3Gain-
ZNF383-
-
-
-
3Gain-
ZNF384-
-
-
-
3Gain-
ZNF385Ap.L323Q
Missense
SNP
0.684
3Gain-
ZNF394-
-
-
-
3Gain-
ZNF398-
-
-
-
3Gain-
ZNF404-
-
-
-
3Gain-
ZNF415-
-
-
-
3Gain-
ZNF416-
-
-
-
3Gain-
ZNF417-
-
-
-
3Gain-
ZNF418-
-
-
-
3Gain-
ZNF419-
-
-
-
3Gain-
ZNF420p.K361N
p.T455P
Missense
Missense
SNP
SNP
0.218
0.673
3Gain-
ZNF425-
-
-
-
3Gain-
ZNF428-
-
-
-
3Gain-
ZNF432-
-
-
-
3Gain-
ZNF444-
-
-
-
3Gain-
ZNF446-
-
-
-
3Gain-
ZNF449p.E376G
Missense
SNP
0.485
NDND-
ZNF45-
-
-
-
3Gain-
ZNF460-
-
-
-
3Gain-
ZNF461-
-
-
-
3Gain-
ZNF467-
-
-
-
3Gain-
ZNF468-
-
-
-
3Gain-
ZNF470-
-
-
-
3Gain-
ZNF471-
-
-
-
3Gain-
ZNF473-
-
-
-
3Gain-
ZNF479-
-
-
-
3Gain-
ZNF480-
-
-
-
3Gain-
ZNF492p.G501A
Missense
SNP
0.483
2--
ZNF497-
-
-
-
3Gain-
ZNF507-
-
-
-
3Gain-
ZNF516p.A574P
Missense
SNP
0.449
2--
ZNF521p.V556A
Missense
SNP
0.497
2--
ZNF524-
-
-
-
3Gain-
ZNF525-
-
-
-
3Gain-
ZNF526-
-
-
-
3Gain-
ZNF527p.Y540*
Nonsense
SNP
0.321
3Gain-
ZNF528-
-
-
-
3Gain-
ZNF529-
-
-
-
3Gain-
ZNF530-
-
-
-
3Gain-
ZNF534-
-
-
-
3Gain-
ZNF536p.A267T
Missense
SNP
0.678
3Gain-
ZNF540-
-
-
-
3Gain-
ZNF541-
-
-
-
3Gain-
ZNF543-
-
-
-
3Gain-
ZNF544-
-
-
-
3Gain-
ZNF546-
-
-
-
3Gain-
ZNF547-
-
-
-
3Gain-
ZNF548-
-
-
-
3Gain-
ZNF549-
-
-
-
3Gain-
ZNF550-
-
-
-
3Gain-
ZNF551-
-
-
-
3Gain-
ZNF552-
-
-
-
3Gain-
ZNF560p.S305P
Missense
SNP
0.434
2--
ZNF565-
-
-
-
3Gain-
ZNF566-
-
-
-
3Gain-
ZNF567-
-
-
-
3Gain-
ZNF568-
-
-
-
3Gain-
ZNF569p.E519D
Missense
SNP
0.222
3Gain-
ZNF570-
-
-
-
3Gain-
ZNF571-
-
-
-
3Gain-
ZNF573-
-
-
-
3Gain-
ZNF574-
-
-
-
3Gain-
ZNF575-
-
-
-
3Gain-
ZNF576-
-
-
-
3Gain-
ZNF577-
-
-
-
3Gain-
ZNF578-
-
-
-
3Gain-
ZNF579-
-
-
-
3Gain-
ZNF580-
-
-
-
3Gain-
ZNF581-
-
-
-
3Gain-
ZNF582-
-
-
-
3Gain-
ZNF583-
-
-
-
3Gain-
ZNF584-
-
-
-
3Gain-
ZNF585A-
-
-
-
3Gain-
ZNF585B-
-
-
-
3Gain-
ZNF586-
-
-
-
3Gain-
ZNF587-
-
-
-
3Gain-
ZNF587B-
-
-
-
3Gain-
ZNF599-
-
-
-
3Gain-
ZNF600-
-
-
-
3Gain-
ZNF605-
-
-
-
3Gain-
ZNF606-
-
-
-
3Gain-
ZNF607-
-
-
-
3Gain-
ZNF610-
-
-
-
3Gain-
ZNF611-
-
-
-
3Gain-
ZNF613-
-
-
-
3Gain-
ZNF614-
-
-
-
3Gain-
ZNF615-
-
-
-
3Gain-
ZNF616-
-
-
-
3Gain-
ZNF628-
-
-
-
3Gain-
ZNF641-
-
-
-
3Gain-
ZNF649-
-
-
-
3Gain-
ZNF653p.E531K
Missense
SNP
0.429
2--
ZNF655-
-
-
-
3Gain-
ZNF664-
-
-
-
3Gain-
ZNF665-
-
-
-
3Gain-
ZNF667-
-
-
-
3Gain-
ZNF671-
-
-
-
3Gain-
ZNF677p.P231H
Missense
SNP
0.237
3Gain-
ZNF679-
-
-
-
3Gain-
ZNF680-
-
-
-
3Gain-
ZNF701-
-
-
-
3Gain-
ZNF705A-
-
-
-
3Gain-
ZNF71-
-
-
-
3Gain-
ZNF713-
-
-
-
3Gain-
ZNF716-
-
-
-
3Gain-
ZNF727-
-
-
-
3Gain-
ZNF735-
-
-
-
3Gain-
ZNF736-
-
-
-
3Gain-
ZNF740-
-
-
-
3Gain-
ZNF746-
-
-
-
3Gain-
ZNF749-
-
-
-
3Gain-
ZNF761-
-
-
-
3Gain-
ZNF765-
-
-
-
3Gain-
ZNF766-
-
-
-
3Gain-
ZNF772-
-
-
-
3Gain-
ZNF773-
-
-
-
3Gain-
ZNF775-
-
-
-
3Gain-
ZNF776-
-
-
-
3Gain-
ZNF777-
-
-
-
3Gain-
ZNF780A-
-
-
-
3Gain-
ZNF780B-
-
-
-
3Gain-
ZNF781-
-
-
-
3Gain-
ZNF783-
-
-
-
3Gain-
ZNF784p.E84K
Missense
SNP
0.719
3Gain-
ZNF786-
-
-
-
3Gain-
ZNF787-
-
-
-
3Gain-
ZNF789-
-
-
-
3Gain-
ZNF790-
-
-
-
3Gain-
ZNF792-
-
-
-
3Gain-
ZNF793-
-
-
-
3Gain-
ZNF8p.Q22R
Missense
SNP
0.274
3Gain-
ZNF800p.R493C
Missense
SNP
0.317
3Gain-
ZNF804Bp.W102L
Missense
SNP
0.621
3Gain-
ZNF805-
-
-
-
3Gain-
ZNF808-
-
-
-
3Gain-
ZNF813-
-
-
-
3Gain-
ZNF814-
-
-
-
3Gain-
ZNF816-
-
-
-
3Gain-
ZNF816-ZNF321P-
-
-
-
3Gain-
ZNF829-
-
-
-
3Gain-
ZNF83-
-
-
-
3Gain-
ZNF835-
-
-
-
3Gain-
ZNF836-
-
-
-
3Gain-
ZNF837-
-
-
-
3Gain-
ZNF84-
-
-
-
3Gain-
ZNF841-
-
-
-
3Gain-
ZNF845-
-
-
-
3Gain-
ZNF850-
-
-
-
3Gain-
ZNF853-
-
-
-
3Gain-
ZNF862-
-
-
-
3Gain-
ZNF865-
-
-
-
3Gain-
ZNF880-
-
-
-
3Gain-
ZNF888-
-
-
-
3Gain-
ZNF891-
-
-
-
3Gain-
ZNF91p.R906G
Missense
SNP
0.539
2--
ZNF92-
-
-
-
3Gain-
ZNHIT1-
-
-
-
3Gain-
ZNRF2-
-
-
-
3Gain-
ZNRF3p.W120*
p.R246H
Nonsense
Missense
SNP
SNP
0.440
0.480
2--
ZP3-
-
-
-
3Gain-
ZPBP-
-
-
-
3Gain-
ZSCAN1-
-
-
-
3Gain-
ZSCAN18-
-
-
-
3Gain-
ZSCAN21-
-
-
-
3Gain-
ZSCAN22-
-
-
-
3Gain-
ZSCAN25-
-
-
-
3Gain-
ZSCAN4-
-
-
-
3Gain-
ZSCAN5A-
-
-
-
3Gain-
ZSCAN5B-
-
-
-
3Gain-
ZSCAN5C-
-
-
-
3Gain-
ZSWIM4p.D113A
Missense
SNP
0.440
2--
ZSWIM9-
-
-
-
3Gain-
ZYX-
-
-
-
3Gain-