WU-0103-T1-X1P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AASS-
-
-
-
1Loss-
AATF-
-
-
-
3Gain-
ABCA12p.D1914E
Missense
SNP
0.538
2--
ABCA13-
-
-
-
3Gain-
ABCA3-
-
-
-
3Gain-
ABCA7p.L667I
Missense
SNP
0.493
2--
ABCB1-
-
-
-
1Loss-
ABCB10-
-
-
-
4Gain-
ABCB4-
-
-
-
1Loss-
ABCB5-
-
-
-
3Gain-
ABCB8-
-
-
-
1Loss-
ABCF2-
-
-
-
1Loss-
ABCG5-
-
-
-
1Loss-
ABCG8-
-
-
-
1Loss-
ABHD1-
-
-
-
1Loss-
ABHD11-
-
-
-
1Loss-
ABHD15-
-
-
-
3Gain-
ABL1p.R535C
Missense
SNP
0.476
2--
ABL2-
-
-
-
4Gain-
ABR-
-
-
-
1Loss-
AC000120.2-
-
-
-
1Loss-
AC000120.3-
-
-
-
1Loss-
AC002094.3-
-
-
-
3Gain-
AC003688.1-
-
-
-
1Loss-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004691.2-
-
-
-
3Gain-
AC004754.1-
-
-
-
3Gain-
AC004922.1-
-
-
-
1Loss-
AC004923.1-
-
-
-
NDNDAC004923.1--ENPP7P4
AC005020.2-
-
-
-
1Loss-
AC005154.5-
-
-
-
3Gain-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC005697.1-
-
-
-
3Gain-
AC005726.1-
-
-
-
3Gain-
AC006978.2-
-
-
-
3Gain-
AC007846.2-
-
-
-
1Loss-
AC010132.3-
-
-
-
3Gain-
AC010487.3-
-
-
-
3Gain-
AC011005.1-
-
-
-
1Loss-
AC013717.1-
-
-
-
1Loss-
AC019117.2-
-
-
-
3Gain-
AC021097.2-
-
-
-
1Loss-
AC021097.3-
-
-
-
1Loss-
AC026954.2-
-
-
-
1Loss-
AC027644.4-
-
-
-
1Loss-
AC027796.3-
-
-
-
1Loss-
AC055811.2-
-
-
-
1Loss-
AC068533.4-
-
-
-
1Loss-
AC073082.1-
-
-
-
1Loss-
AC073111.3-
-
-
-
1Loss-
AC073283.3-
-
-
-
1Loss-
AC073508.2-
-
-
-
3Gain-
AC084121.11-
-
-
-
1Loss-
AC084121.12-
-
-
-
1Loss-
AC084121.13-
-
-
-
1Loss-
AC084121.5-
-
-
-
1Loss-
AC084121.6-
-
-
-
1Loss-
AC084121.7-
-
-
-
1Loss-
AC084121.8-
-
-
-
1Loss-
AC084121.9-
-
-
-
1Loss-
AC092017.3-
-
-
-
4Gain-
AC092647.5-
-
-
-
3Gain-
AC093525.1-
-
-
-
3GainAC093525.1--CAVIN1
AC093525.2-
-
-
-
3Gain-
AC093668.1-
-
-
-
1Loss-
AC093668.2-
-
-
-
1Loss-
AC093668.3-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC099811.2-
-
-
-
3Gain-
AC104581.2-
-
-
-
1Loss-
AC105052.1-
-
-
-
1Loss-
AC105052.3-
-
-
-
1Loss-
AC115220.1-
-
-
-
1Loss-
AC120057.2-
-
-
-
1Loss-
AC129492.3-
-
-
-
1Loss-
AC131097.2-
-
-
-
3Gain-
AC134669.1-
-
-
-
3Gain-
AC134684.11-
-
-
-
1Loss-
AC134684.8-
-
-
-
1Loss-
AC134684.9-
-
-
-
1Loss-
AC135178.2-
-
-
-
1Loss-
AC187653.1-
-
-
-
3Gain-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
ACACA-
-
-
-
3Gain-
ACADVL-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACBD3-
-
-
-
4Gain-
ACBD6-
-
-
-
4Gain-
ACHE-
-
-
-
1Loss-
ACKR1-
-
-
-
4Gain-
ACLY-
-
-
-
3Gain-
ACP6-
-
-
-
5Amp-
ACTA1-
-
-
-
4Gain-
ACTB-
-
-
-
3Gain-
ACTL6B-
-
-
-
1Loss-
ACTN2-
-
-
-
4Gain-
ACTR3p.R313H
Missense
SNP
0.578
2--
ACTR3B-
-
-
-
1Loss-
ACTR3C-
-
-
-
1Loss-
ACVR2Ap.D96Tfs*54
Frame_Shift_Del
DEL
0.444
2--
ADAM15-
-
-
-
4Gain-
ADAM22-
-
-
-
1Loss-
ADAMTS12p.G787C
Missense
SNP
0.510
2--
ADAMTS15p.R530C
Missense
SNP
0.523
2--
ADAMTS4p.V152M
Missense
SNP
0.221
4Gain-
ADAMTS5p.S875L
Missense
SNP
0.521
2--
ADAMTSL4-
-
-
-
4Gain-
ADAP1-
-
-
-
3Gain-
ADAP2-
-
-
-
3Gain-
ADAR-
-
-
-
4Gain-
ADCK2-
-
-
-
1Loss-
ADCY1-
-
-
-
3Gain-
ADCY10-
-
-
-
4Gain-
ADCY3p.V209M
Missense
SNP
1.000
1Loss-
ADCYAP1R1-
-
-
-
3Gain-
ADD2p.R33C
Missense
SNP
0.504
2--
ADD3p.K701Rfs*8
Frame_Shift_Del
DEL
0.387
2--
ADGRF3-
-
-
-
1Loss-
ADGRF4p.G351S
Missense
SNP
0.056
2--
ADGRL4p.G495R
Missense
SNP
0.500
2--
ADIPOR1-
-
-
-
4Gain-
ADNPp.D618Mfs*14
Frame_Shift_Del
DEL
0.392
2--
ADORA1-
-
-
-
4Gain-
ADORA2B-
-
-
-
1Loss-
ADPRM-
-
-
-
1Loss-
ADSS-
-
-
-
4Gain-
AEBP1-
-
-
-
3Gain-
AGAP3-
-
-
-
1Loss-
AGBL3-
-
-
-
1Loss-
AGBL5-
-
-
-
1Loss-
AGFG2-
-
-
-
1Loss-
AGK-
-
-
-
1Loss-
AGMO-
-
-
-
3Gain-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGRNp.H798Mfs*65
Frame_Shift_Del
DEL
0.439
2--
AGT-
-
-
-
4Gain-
AHCTF1-
-
-
-
4Gain-
AHCYL2-
-
-
-
1Loss-
AHR-
-
-
-
3Gain-
AIDA-
-
-
-
4Gain-
AIM2p.T343Hfs*14
Frame_Shift_Del
DEL
0.231
4Gain-
AIMP2-
-
-
-
3Gain-
AIPL1-
-
-
-
1Loss-
AKAP10-
-
-
-
1Loss-
AKAP11-
-
-
-
1Loss-
AKAP9-
-
-
-
1Loss-
AKR1B1-
-
-
-
1Loss-
AKR1B10-
-
-
-
1Loss-
AKR1B15-
-
-
-
1Loss-
AKR1D1-
-
-
-
1Loss-
AKR1E2p.R301*
Nonsense
SNP
0.495
2--
AKT3-
-
-
-
4Gain-
AL031708.1-
-
-
-
3Gain-
AL117348.2-
-
-
-
4Gain-
AL136454.1-
-
-
-
4Gain-
AL139011.2-
-
-
-
4Gain-
AL139142.2-
-
-
-
4Gain-
AL358472.6-
-
-
-
4Gain-
AL358472.7-
-
-
-
4Gain-
AL512506.3-
-
-
-
1Loss-
AL512785.2-
-
-
-
4Gain-
AL590132.1-
-
-
-
4Gain-
AL591806.3-
-
-
-
4Gain-
AL691442.1-
-
-
-
4Gain-
AL713999.1-
-
-
-
4Gain-
ALDH1A1p.K36E
Missense
SNP
0.446
2--
ALDH1A2p.V328M
Missense
SNP
0.457
2--
ALDH1L1p.E439Gfs*12
Frame_Shift_Ins
INS
0.303
2--
ALDH3A1-
-
-
-
1Loss-
ALDH3A2-
-
-
-
1Loss-
ALDH9A1-
-
-
-
4Gain-
ALDOC-
-
-
-
3Gain-
ALK-
-
-
-
1Loss-
ALKBH4-
-
-
-
1Loss-
ALKBH5-
-
-
-
1Loss-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOXE3-
-
-
-
1Loss-
ALX4p.R215W
Missense
SNP
0.512
2--
AMER3p.S727I
Missense
SNP
0.531
2--
AMHR2p.P268Sfs*30
Frame_Shift_Ins
INS
0.306
2--
AMPH-
-
-
-
3Gain-
AMZ1-
-
-
-
3Gain-
ANAPC4p.N148Kfs*3
Frame_Shift_Ins
INS
0.395
2--
ANGEL2-
-
-
-
4Gain-
ANGPTL1-
-
-
-
4Gain-
ANKEF1p.Y459C
Missense
SNP
0.517
2--
ANKFN1p.H87Tfs*2
Frame_Shift_Ins
INS
0.344
2--
ANKFY1-
-
-
-
1Loss-
ANKHD1-
-
-
-
3Gain-
ANKHD1-EIF4EBP3-
-
-
-
3Gain-
ANKIB1-
-
-
-
1Loss-
ANKLE1p.A37Rfs*4
Frame_Shift_Ins
INS
0.317
2--
ANKMY1p.D565Afs*22
Frame_Shift_Ins
INS
0.139
2--
ANKMY2-
-
-
-
3Gain-
ANKRD13B-
-
-
-
3Gain-
ANKRD33p.C414*
Nonsense
SNP
0.463
2--
ANKRD34A-
-
-
-
3Gain-
ANKRD35-
-
-
-
3Gain-
ANKRD45-
-
-
-
4Gain-
ANKRD61-
-
-
-
3Gain-
ANKRD7-
-
-
-
1Loss-
ANLN-
-
-
-
3Gain-
ANO1p.T847M
Missense
SNP
0.487
2--
ANP32E-
-
-
-
4Gain-
ANXA9-
-
-
-
4Gain-
AOAH-
-
-
-
3Gain-
AOC1-
-
-
-
1Loss-
AP1S1-
-
-
-
1Loss-
AP2B1-
-
-
-
3Gain-
AP4M1-
-
-
-
1Loss-
AP5Z1-
-
-
-
3Gain-
APBB2p.A436T
Missense
SNP
0.474
2--
APCS-
-
-
-
4Gain-
APH1A-
-
-
-
4Gain-
APOA2-
-
-
-
4Gain-
APOBEC4-
-
-
-
4Gain-
APPL1p.K614Rfs*12
Frame_Shift_Del
DEL
0.514
2--
AQP1-
-
-
-
3Gain-
AQP10-
-
-
-
4Gain-
ARAP1p.R166Pfs*9
Frame_Shift_Ins
INS
0.317
2--
ARAP3p.R1335H
Missense
SNP
0.472
2--
ARF1-
-
-
-
4Gain-
ARF5-
-
-
-
1Loss-
ARHGAP23-
-
-
-
3Gain-
ARHGAP30-
-
-
-
4Gain-
ARHGAP39p.R686C
Missense
SNP
0.499
2--
ARHGAP44-
-
-
-
1Loss-
ARHGDIG-
-
-
-
3Gain-
ARHGEF11-
-
-
-
4Gain-
ARHGEF15-
-
-
-
1Loss-
ARHGEF2-
-
-
-
4Gain-
ARHGEF33-
-
-
-
1Loss-
ARHGEF35-
-
-
-
1Loss-
ARHGEF5-
-
-
-
1Loss-
ARID4B-
-
-
-
4Gain-
ARL11-
-
-
-
1Loss-
ARL4A-
-
-
-
3Gain-
ARL5C-
-
-
-
3Gain-
ARL8A-
-
-
-
4Gain-
ARMC10-
-
-
-
1Loss-
ARNT-
-
-
-
4Gain-
ARNT2p.M27Wfs*7
Frame_Shift_Del
DEL
0.538
2--
ARPC1A-
-
-
-
1Loss-
ARPC1B-
-
-
-
1Loss-
ARPC5-
-
-
-
4Gain-
ARRB2-
-
-
-
1Loss-
ARRDC5p.R4I
Missense
SNP
0.430
2--
ART3p.E300G
Missense
SNP
0.407
2--
ARV1-
-
-
-
4Gain-
ASAH2p.S50Qfs*40
Frame_Shift_Del
DEL
0.344
2--
ASB1p.P320H
Missense
SNP
0.458
2--
ASB10-
-
-
-
1Loss-
ASB15-
-
-
-
1Loss-
ASB4-
-
-
-
1Loss-
ASCL5-
-
-
-
4Gain-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH1L-
-
-
-
4Gain-
ASIC2-
-
-
-
3Gain-
ASIC3-
-
-
-
1Loss-
ASL-
-
-
-
1Loss-
ASNS-
-
-
-
1Loss-
ASPA-
-
-
-
1Loss-
ASPM-
-
-
-
4Gain-
ASTN1-
-
-
-
4Gain-
ASXL2-
-
-
-
1Loss-
ASZ1-
-
-
-
1Loss-
ATAD5-
-
-
-
3Gain-
ATF3-
-
-
-
4Gain-
ATF6-
-
-
-
4Gain-
ATG9B-
-
-
-
1Loss-
ATL2-
-
-
-
1Loss-
ATMp.L1598Sfs*3
Frame_Shift_Del
DEL
0.519
2--
ATP1A2-
-
-
-
4Gain-
ATP1A4-
-
-
-
4Gain-
ATP1B1-
-
-
-
4Gain-
ATP1B2-
-
-
-
1Loss-
ATP2A3-
-
-
-
1Loss-
ATP2B4-
-
-
-
4Gain-
ATP5MF-
-
-
-
1Loss-
ATP5MF-PTCD1-
-
-
-
1Loss-
ATP6V0A4-
-
-
-
1Loss-
ATP6V0C-
-
-
-
3GainATP6V0C--CAVIN1
ATP6V0E2-
-
-
-
1Loss-
ATP6V1E2-
-
-
-
1Loss-
ATP6V1F-
-
-
-
1Loss-
ATP6V1FNB-
-
-
-
1Loss-
ATP6V1G3-
-
-
-
4Gain-
ATP8A2p.R1130C
Missense
SNP
0.451
2--
ATP8B2-
-
-
-
4Gain-
ATPAF2-
-
-
-
1Loss-
ATRAID-
-
-
-
1Loss-
ATXN7L1-
-
-
-
1Loss-
AURKB-
-
-
-
1Loss-
AUTS2-
-
-
-
1Loss-
AVL9p.K203Rfs*9
Frame_Shift_Del
DEL
0.444
3Gain-
AVPR1B-
-
-
-
4Gain-
AXDND1-
-
-
-
4Gain-
AXIN1-
-
-
-
3Gain-
AZGP1-
-
-
-
1Loss-
B3GALNT2-
-
-
-
4Gain-
B3GALT2-
-
-
-
4Gain-
B3GALT4p.P318L
Missense
SNP
0.437
2--
B4GALT3-
-
-
-
4Gain-
B9D1-
-
-
-
1Loss-
BABAM2-
-
-
-
1Loss-
BAG4p.H312Y
Missense
SNP
0.061
2--
BAG6p.P115Lfs*53
Frame_Shift_Del
DEL
0.405
2--
BAHD1p.S741Lfs*58
Frame_Shift_Del
DEL
0.480
2--
BAIAP2L1-
-
-
-
1Loss-
BAIAP3-
-
-
-
3Gain-
BARD1p.A136V
Missense
SNP
0.429
2--
BATF3-
-
-
-
4Gain-
BAZ1B-
-
-
-
1Loss-
BBS9-
-
-
-
3Gain-
BCAN-
-
-
-
4Gain-
BCAP29-
-
-
-
1Loss-
BCAS3p.G891Efs*76
Frame_Shift_Del
DEL
0.278
2--
BCKDHAp.R429H
Missense
SNP
0.509
2--
BCL6p.S128G
Missense
SNP
0.427
2--
BCL6B-
-
-
-
1Loss-
BCL7B-
-
-
-
1Loss-
BCL9p.P1073Q
Missense
SNP
0.190
5Amp-
BCRp.L522V
Missense
SNP
0.432
2--
BECN2-
-
-
-
4Gain-
BET1-
-
-
-
1Loss-
BGLAP-
-
-
-
4Gain-
BHLHA15-
-
-
-
1Loss-
BHLHA9-
-
-
-
1Loss-
BIRC6-
-
-
-
1Loss-
BIRC8-
-
-
-
3Gain-
BLMH-
-
-
-
3Gain-
BLVRA-
-
-
-
3Gain-
BLZF1-
-
-
-
4Gain-
BMP7p.T390M
Missense
SNP
0.390
2--
BMPER-
-
-
-
3Gain-
BMT2-
-
-
-
1Loss-
BNIP3p.L198I
Missense
SNP
0.503
2--
BNIPL-
-
-
-
4Gain-
BOLA1-
-
-
-
4Gain-
BORCS6-
-
-
-
1Loss-
BPGM-
-
-
-
1Loss-
BPNT1-
-
-
-
4Gain-
BRAF-
-
-
-
1Loss-
BRAT1-
-
-
-
3Gain-
BRI3-
-
-
-
1Loss-
BRICD5-
-
-
-
3Gain-
BRINP2-
-
-
-
4Gain-
BRINP3-
-
-
-
4Gain-
BROX-
-
-
-
4Gain-
BRPF3p.A278T
Missense
SNP
0.187
2--
BSNDp.V162M
Missense
SNP
0.459
2--
BTG2-
-
-
-
4Gain-
BTN3A3p.I221T
Missense
SNP
0.439
2--
BUD23-
-
-
-
1Loss-
BUD31-
-
-
-
1Loss-
BZW2-
-
-
-
3Gain-
C10orf120p.K254Nfs*3
Frame_Shift_Del
DEL
0.500
2--
C10orf71p.R1236H
Missense
SNP
0.430
2--
C11orf54p.V77Ffs*4
Frame_Shift_Del
DEL
0.477
2--
C11orf57p.K161Sfs*20
Frame_Shift_Del
DEL
0.259
NDND-
C12orf40p.G173E
Missense
SNP
0.366
2--
C16orf91-
-
-
-
3Gain-
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
1Loss-
C17orf113-
-
-
-
3Gain-
C17orf49-
-
-
-
1Loss-
C17orf50-
-
-
-
3Gain-
C17orf51-
-
-
-
1Loss-
C17orf62p.L45M
Missense
SNP
0.144
NDND-
C17orf75-
-
-
-
3Gain-
C17orf78-
-
-
-
3Gain-
C17orf97-
-
-
-
1Loss-
C17orf98-
-
-
-
3Gain-
C1GALT1-
-
-
-
3Gain-
C1GALT1C1L-
-
-
-
1Loss-
C1orf100-
-
-
-
4Gain-
C1orf105-
-
-
-
4Gain-
C1orf112-
-
-
-
4Gain-
C1orf115-
-
-
-
4Gain-
C1orf116-
-
-
-
4Gain-
C1orf131-
-
-
-
4Gain-
C1orf189-
-
-
-
4Gain-
C1orf198-
-
-
-
4Gain-
C1orf21-
-
-
-
4Gain-
C1orf226-
-
-
-
4Gain-
C1orf35-
-
-
-
4Gain-
C1orf43-
-
-
-
4Gain-
C1orf53-
-
-
-
4Gain-
C1orf54-
-
-
-
4Gain-
C1orf56-
-
-
-
4Gain-
C1orf61-
-
-
-
4Gain-
C1orf68-
-
-
-
4Gain-
C1orf74-
-
-
-
4Gain-
C1QBP-
-
-
-
1Loss-
C1QTNF8-
-
-
-
3Gain-
C22orf31p.A47V
Missense
SNP
0.435
2--
C2CD4D-
-
-
-
4Gain-
C2orf16-
-
-
-
1Loss-
C2orf49p.T92A
Missense
SNP
0.420
2--
C2orf70-
-
-
-
1Loss-
C2orf91-
-
-
-
1Loss-
C4BPA-
-
-
-
4Gain-
C4BPB-
-
-
-
4Gain-
C5orf45p.E76K
Missense
SNP
0.468
NDND-
C7orf25-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf33-
-
-
-
1Loss-
C7orf43-
-
-
-
1Loss-
C7orf50-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
1Loss-
C7orf57-
-
-
-
3Gain-
C7orf61-
-
-
-
1Loss-
C7orf77-
-
-
-
1Loss-
C8orf76p.C212R
Missense
SNP
0.507
2--
CA14-
-
-
-
4Gain-
CA7p.L150Wfs*10
Frame_Shift_Del
DEL
0.355
2--
CAB39L-
-
-
-
1Loss-
CACNA1Bp.R906H
Missense
SNP
0.541
2--
CACNA1E-
-
-
-
4Gain-
CACNA1H-
-
-
-
3Gain-
CACNA1S-
-
-
-
4Gain-
CACNA2D1-
-
-
-
1Loss-
CACNB1-
-
-
-
3Gain-
CACNG1p.R60H
Missense
SNP
0.536
2--
CACYBP-
-
-
-
4Gain-
CAD-
-
-
-
1Loss-
CADM3-
-
-
-
4Gain-
CADPS2-
-
-
-
1Loss-
CALCR-
-
-
-
1Loss-
CALD1-
-
-
-
1Loss-
CALM2-
-
-
-
1Loss-
CALN1-
-
-
-
1Loss-
CALU-
-
-
-
1Loss-
CAMK1G-
-
-
-
4Gain-
CAMK2B-
-
-
-
3Gain-
CAMKK1-
-
-
-
1Loss-
CAMKMT-
-
-
-
1Loss-
CAMSAP2p.M1437*
Frame_Shift_Del
DEL
0.290
4Gain-
CAMTA1p.A1117V
Missense
SNP
0.483
2--
CAMTA2p.R402C
Missense
SNP
1.000
1Loss-
CAPN13-
-
-
-
1Loss-
CAPN14-
-
-
-
1Loss-
CAPN15-
-
-
-
3Gain-
CAPN2p.R337H
Missense
SNP
0.819
4Gain-
CAPN8-
-
-
-
4Gain-
CAPN9-
-
-
-
4Gain-
CAPZA2-
-
-
-
1Loss-
CARD11p.G595R
Missense
SNP
0.302
3Gain-
CARD9p.R475Q
Missense
SNP
0.500
2--
CASC3-
-
-
-
3Gain-
CASD1-
-
-
-
1Loss-
CASKIN1-
-
-
-
3Gain-
CASP2-
-
-
-
1Loss-
CASQ1-
-
-
-
4Gain-
CASTOR2-
-
-
-
1Loss-
CASTOR3-
-
-
-
1Loss-
CATSPERE-
-
-
-
4Gain-
CAV1-
-
-
-
1Loss-
CAV2-
-
-
-
1Loss-
CAVIN1-
-
-
-
3GainAC093525.1--CAVIN1
ATP6V0C--CAVIN1
CBLL1-
-
-
-
1Loss-
CBS-
-
-
-
1Loss-
CBSL-
-
-
-
1Loss-
CBX3-
-
-
-
3Gain-
CCDC121-
-
-
-
1Loss-
CCDC122-
-
-
-
1Loss-
CCDC126-
-
-
-
3Gain-
CCDC136-
-
-
-
1Loss-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
1Loss-
CCDC146-
-
-
-
1Loss-
CCDC154-
-
-
-
3Gain-
CCDC160p.F17Lfs*7
Frame_Shift_Del
DEL
0.857
NDND-
CCDC174p.K303Rfs*2
Frame_Shift_Del
DEL
0.423
2--
CCDC181p.K422Sfs*6
Frame_Shift_Del
DEL
0.794
4Gain-
CCDC185p.E559D
Missense
SNP
0.233
4Gain-
CCDC190-
-
-
-
4Gain-
CCDC42-
-
-
-
1Loss-
CCDC67p.R208H
Missense
SNP
0.500
NDND-
CCDC71L-
-
-
-
1Loss-
CCDC78-
-
-
-
3Gain-
CCL1-
-
-
-
3Gain-
CCL11-
-
-
-
3Gain-
CCL13-
-
-
-
3Gain-
CCL14-
-
-
-
3Gain-
CCL15-
-
-
-
3Gain-
CCL15-CCL14-
-
-
-
3Gain-
CCL16-
-
-
-
3Gain-
CCL18-
-
-
-
3Gain-
CCL2-
-
-
-
3Gain-
CCL23-
-
-
-
3Gain-
CCL24-
-
-
-
1Loss-
CCL26-
-
-
-
1Loss-
CCL3-
-
-
-
3Gain-
CCL3L1-
-
-
-
3Gain-
CCL4-
-
-
-
3Gain-
CCL4L2-
-
-
-
3Gain-
CCL5-
-
-
-
3Gain-
CCL7-
-
-
-
3Gain-
CCL8-
-
-
-
3Gain-
CCM2-
-
-
-
3Gain-
CCNF-
-
-
-
3Gain-
CCR7-
-
-
-
3Gain-
CCSAP-
-
-
-
4Gain-
CCT3-
-
-
-
4Gain-
CCT6A-
-
-
-
3Gain-
CCT6B-
-
-
-
3Gain-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD160-
-
-
-
3Gain-
CD1A-
-
-
-
4Gain-
CD1B-
-
-
-
4Gain-
CD1C-
-
-
-
4Gain-
CD1D-
-
-
-
4Gain-
CD1Ep.X302_splice
Splice_Site
SNP
0.212
4Gain-
CD244-
-
-
-
4Gain-
CD247-
-
-
-
4Gain-
CD34-
-
-
-
4Gain-
CD36-
-
-
-
1Loss-
CD46-
-
-
-
4Gain-
CD48-
-
-
-
4Gain-
CD55-
-
-
-
4Gain-
CD5L-
-
-
-
4Gain-
CD68-
-
-
-
1Loss-
CD81p.A70T
Missense
SNP
0.455
2--
CD84-
-
-
-
4Gain-
CD93p.P514L
Missense
SNP
0.361
2--
CDADC1-
-
-
-
1Loss-
CDC14C-
-
-
-
3Gain-
CDC25Cp.Q228Afs*13
Frame_Shift_Ins
INS
0.299
2--
CDC42BPA-
-
-
-
4Gain-
CDC42EP3-
-
-
-
1Loss-
CDC42SE1-
-
-
-
4Gain-
CDC6-
-
-
-
3Gain-
CDC73-
-
-
-
4Gain-
CDCA7L-
-
-
-
3Gain-
CDH1p.R224H
Missense
SNP
0.466
2--
CDH13p.F261Y
Missense
SNP
0.569
2--
CDHR3-
-
-
-
1Loss-
CDK11Ap.N37Ifs*17
Frame_Shift_Del
DEL
0.609
2--
CDK12-
-
-
-
3Gain-
CDK13-
-
-
-
3Gain-
CDK14-
-
-
-
1Loss-
CDK18-
-
-
-
4Gain-
CDK5-
-
-
-
1Loss-
CDK5R1-
-
-
-
3Gain-
CDK6-
-
-
-
1Loss-
CDK9p.I210Hfs*2
Frame_Shift_Ins
INS
0.332
2--
CDKL4-
-
-
-
1Loss-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT15L2-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDX4p.G25C
Missense
SNP
0.065
NDND-
CEBPZ-
-
-
-
1Loss-
CELA3Ap.W113*
Nonsense
SNP
0.503
2--
CELF3-
-
-
-
4Gain-
CELSR2p.A1087T
Missense
SNP
0.494
2--
CELSR3p.W2495C
Missense
SNP
0.458
2--
CENPA-
-
-
-
1Loss-
CENPF-
-
-
-
4Gain-
CENPL-
-
-
-
4Gain-
CENPO-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CEP131p.R1013W
Missense
SNP
0.462
2--
CEP170-
-
-
-
4Gain-
CEP290p.N212Tfs*14
Frame_Shift_Del
DEL
0.418
2--
CEP350-
-
-
-
4Gain-
CEP41-
-
-
-
1Loss-
CEP85p.R237Q
Missense
SNP
0.173
2--
CERS2-
-
-
-
4Gain-
CFAP126-
-
-
-
4Gain-
CFAP45-
-
-
-
4Gain-
CFAP52-
-
-
-
1Loss-
CFAP69-
-
-
-
1Loss-
CFH-
-
-
-
4Gain-
CFHR1-
-
-
-
4Gain-
CFHR2-
-
-
-
4Gain-
CFHR3-
-
-
-
4Gain-
CFHR4-
-
-
-
4Gain-
CFHR5-
-
-
-
4Gain-
CFTR-
-
-
-
1Loss-
CGNp.Q891H
Missense
SNP
0.193
4Gain-
CGREF1-
-
-
-
1Loss-
CHCHD2-
-
-
-
3Gain-
CHCHD3-
-
-
-
1Loss-
CHD1L-
-
-
-
5Amp-
CHD3-
-
-
-
1Loss-
CHD6p.I979Rfs*16
Frame_Shift_Del
DEL
0.415
2--
CHEK1p.G77C
Missense
SNP
0.298
2--
CHI3L1-
-
-
-
4Gain-
CHIT1-
-
-
-
4Gain-
CHML-
-
-
-
4Gain-
CHN2-
-
-
-
3Gain-
CHPF2-
-
-
-
1Loss-
CHRM2-
-
-
-
1Loss-
CHRM3-
-
-
-
4Gain-
CHRM4p.N60I
Missense
SNP
0.231
2--
CHRNA9p.A210T
Missense
SNP
0.494
2--
CHRNB1-
-
-
-
1Loss-
CHRNB2-
-
-
-
4Gain-
CHRNE-
-
-
-
1Loss-
CHST12-
-
-
-
3Gain-
CHTF18-
-
-
-
3Gain-
CHTOP-
-
-
-
4Gain-
CIAO3-
-
-
-
3Gain-
CIART-
-
-
-
4Gain-
CIB4-
-
-
-
1Loss-
CISD3-
-
-
-
3Gain-
CITp.R1914H
Missense
SNP
0.469
2--
CKS1B-
-
-
-
4Gain-
CLCA2p.R867Q
Missense
SNP
0.554
2--
CLCN1-
-
-
-
1Loss-
CLCN4p.R729W
Missense
SNP
1.000
NDND-
CLCN7-
-
-
-
3Gain-
CLDN12-
-
-
-
1Loss-
CLDN15-
-
-
-
1Loss-
CLDN3-
-
-
-
1Loss-
CLDN4-
-
-
-
1Loss-
CLDN7-
-
-
-
1Loss-
CLEC10A-
-
-
-
1Loss-
CLEC2L-
-
-
-
1Loss-
CLEC5A-
-
-
-
1Loss-
CLIP2-
-
-
-
1Loss-
CLIP4-
-
-
-
1Loss-
CLK2-
-
-
-
4Gain-
CLUH-
-
-
-
1Loss-
CMKLR1p.A100T
Missense
SNP
0.458
2--
CNBD1p.E422Kfs*25
Frame_Shift_Del
DEL
0.429
2--
CNGB3p.R140C
Missense
SNP
0.490
2--
CNIH3-
-
-
-
4Gain-
CNIH4-
-
-
-
4Gain-
CNOT3p.X235_splice
Splice_Site
SNP
0.537
2--
CNOT4-
-
-
-
1Loss-
CNP-
-
-
-
3Gain-
CNPY1-
-
-
-
1Loss-
CNPY4-
-
-
-
1Loss-
CNST-
-
-
-
4Gain-
CNTFRp.C46Y
Missense
SNP
0.480
2--
CNTN2-
-
-
-
4Gain-
CNTNAP2-
-
-
-
1Loss-
CNTNAP4p.D206Rfs*13
Frame_Shift_Ins
INS
0.371
2--
CNTROB-
-
-
-
1Loss-
COA1-
-
-
-
3Gain-
COA6-
-
-
-
4Gain-
COASYp.S29N
Missense
SNP
0.553
2--
COBL-
-
-
-
3Gain-
COG2-
-
-
-
4Gain-
COG3-
-
-
-
1Loss-
COG5-
-
-
-
1Loss-
COL12A1p.V2746I
Missense
SNP
0.588
2--
COL1A2-
-
-
-
1Loss-
COL26A1-
-
-
-
1Loss-
COL28A1-
-
-
-
3Gain-
COL4A3-
-
-
-
1Loss-
COL4A4-
-
-
-
1Loss-
COL5A1p.R1392G
Missense
SNP
0.333
2--
COL6A2p.E526G
Missense
SNP
0.503
2--
COLGALT2-
-
-
-
4Gain-
COP1-
-
-
-
4Gain-
COPA-
-
-
-
4Gain-
COPG2-
-
-
-
1Loss-
COPRS-
-
-
-
3Gain-
COPS3-
-
-
-
1Loss-
COPS6-
-
-
-
1Loss-
COQ8A-
-
-
-
4Gain-
CORO6-
-
-
-
3Gain-
COX10-
-
-
-
1Loss-
COX19-
-
-
-
3Gain-
COX20-
-
-
-
4Gain-
COX7A2L-
-
-
-
1Loss-
CPA1p.R234H
Missense
SNP
1.000
1Loss-
CPA2-
-
-
-
1Loss-
CPA4-
-
-
-
1Loss-
CPA5-
-
-
-
1Loss-
CPB2-
-
-
-
1Loss-
CPD-
-
-
-
3Gain-
CPED1-
-
-
-
1Loss-
CPS1p.R1332S
Missense
SNP
0.627
2--
CPSF4-
-
-
-
1Loss-
CPVL-
-
-
-
3Gain-
CR1-
-
-
-
4Gain-
CR1L-
-
-
-
4Gain-
CR2-
-
-
-
4Gain-
CRABP2-
-
-
-
4Gain-
CRAMP1-
-
-
-
3Gain-
CRB1-
-
-
-
4Gain-
CRCP-
-
-
-
1Loss-
CRCT1-
-
-
-
4Gain-
CREB3L2-
-
-
-
1Loss-
CREB3L4-
-
-
-
4Gain-
CREB5-
-
-
-
3Gain-
CREBBPp.R1446C
Missense
SNP
0.461
2--
CREG1-
-
-
-
4Gain-
CRHR2-
-
-
-
3Gain-
CRIM1-
-
-
-
1Loss-
CRIPT-
-
-
-
1Loss-
CRK-
-
-
-
1Loss-
CRLF3-
-
-
-
3Gain-
CRNN-
-
-
-
4Gain-
CROT-
-
-
-
1Loss-
CRP-
-
-
-
4Gain-
CRTC2-
-
-
-
4Gain-
CRYAA-
-
-
-
1Loss-
CRYAA2-
-
-
-
1Loss-
CRYBA1-
-
-
-
3Gain-
CRYGN-
-
-
-
1Loss-
CSF3-
-
-
-
3Gain-
CSMD1p.N1769S
Missense
SNP
0.358
2--
CSPG5p.H500Mfs*31
Frame_Shift_Del
DEL
0.439
2--
CSRP1-
-
-
-
4Gain-
CTAGE15-
-
-
-
1Loss-
CTAGE6-
-
-
-
1Loss-
CTC1-
-
-
-
1Loss-
CTDNEP1-
-
-
-
1Loss-
CTGFp.H296Pfs*14
Frame_Shift_Ins
INS
0.298
2--
CTNS-
-
-
-
1Loss-
CTSE-
-
-
-
4Gain-
CTSK-
-
-
-
4Gain-
CTSS-
-
-
-
4Gain-
CTTNBP2-
-
-
-
1Loss-
CUL1-
-
-
-
1Loss-
CUL9p.R1307W
Missense
SNP
0.502
2--
CUX1-
-
-
-
1Loss-
CWC25-
-
-
-
3Gain-
CXCL16-
-
-
-
1Loss-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5R1-
-
-
-
4Gain-
CYCS-
-
-
-
3Gain-
CYFIP2p.A169V
Missense
SNP
0.609
2--
CYP1B1-
-
-
-
1Loss-
CYP24A1p.T388M
Missense
SNP
0.633
2--
CYP2W1-
-
-
-
3Gain-
CYP3A4-
-
-
-
1Loss-
CYP3A43-
-
-
-
1Loss-
CYP3A5-
-
-
-
1Loss-
CYP3A7-
-
-
-
1Loss-
CYP3A7-CYP3A51P-
-
-
-
1Loss-
CYP51A1-
-
-
-
1Loss-
CYREN-
-
-
-
1Loss-
CYSLTR2-
-
-
-
1Loss-
CYTH3-
-
-
-
3Gain-
DAAM2p.P544Lfs*62
Frame_Shift_Del
DEL
0.518
2--
DAGLB-
-
-
-
3Gain-
DAP3-
-
-
-
4Gain-
DARS2-
-
-
-
4Gain-
DAZAP1p.G383Afs*46
Frame_Shift_Del
DEL
0.400
2--
DBF4-
-
-
-
1Loss-
DBNL-
-
-
-
3Gain-
DCAF10p.R428Q
Missense
SNP
0.489
2--
DCAF6-
-
-
-
4Gain-
DCAF8-
-
-
-
4Gain-
DCCp.V755M
Missense
SNP
0.477
2--
DCST1-
-
-
-
4Gain-
DCST2-
-
-
-
4Gain-
DDC-
-
-
-
3Gain-
DDNp.V467A
Missense
SNP
0.508
2--
DDR2-
-
-
-
4Gain-
DDX17p.K121Sfs*4
Frame_Shift_Del
DEL
0.487
2--
DDX18p.A454S
Missense
SNP
0.500
2--
DDX23p.R344H
Missense
SNP
0.541
2--
DDX27p.K691Rfs*4
Frame_Shift_Del
DEL
0.422
2--
DDX42p.R411*
Nonsense
SNP
0.563
2--
DDX52-
-
-
-
3Gain-
DDX56-
-
-
-
3Gain-
DDX59-
-
-
-
4Gain-
DDX60p.L1133Yfs*4
Frame_Shift_Del
DEL
0.588
2--
DECR1p.R270H
Missense
SNP
0.456
2--
DECR2-
-
-
-
3Gain-
DEDD-
-
-
-
4Gain-
DEFB105B-
-
-
-
1Loss-
DEGS1-
-
-
-
4Gain-
DENND1B-
-
-
-
4Gain-
DENND2A-
-
-
-
1Loss-
DENND4Ap.S1025I
Missense
SNP
0.411
2--
DENND4B-
-
-
-
4Gain-
DENND6Ap.F358Lfs*14
Frame_Shift_Del
DEL
0.384
2--
DERL2-
-
-
-
1Loss-
DESI2-
-
-
-
4Gain-
DGKB-
-
-
-
3Gain-
DGKH-
-
-
-
1Loss-
DGKI-
-
-
-
1Loss-
DHCR7p.V275I
Missense
SNP
0.484
2--
DHHp.A166T
Missense
SNP
0.490
2--
DHRS11-
-
-
-
3Gain-
DHRS13-
-
-
-
3Gain-
DHRS7B-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DHX34p.T831M
Missense
SNP
0.458
2--
DHX57-
-
-
-
1Loss-
DHX58-
-
-
-
3Gain-
DHX9-
-
-
-
4Gain-
DIAPH1p.G378R
Missense
SNP
0.531
2--
DIRAS2p.V111M
Missense
SNP
0.505
2--
DISC1-
-
-
-
4Gain-
DISP1-
-
-
-
4Gain-
DLATp.V242Wfs*5
Frame_Shift_Del
DEL
0.433
2--
DLD-
-
-
-
1Loss-
DLG4-
-
-
-
1Loss-
DLX5-
-
-
-
1Loss-
DLX6-
-
-
-
1Loss-
DMTF1-
-
-
-
1Loss-
DNA2p.E486D
Missense
SNP
0.485
2--
DNAAF5-
-
-
-
3Gain-
DNAH11p.E92Gfs*14
Frame_Shift_Ins
INS
0.210
3Gain-
DNAH14p.T2674Hfs*9
Frame_Shift_Del
DEL
0.228
4Gain-
DNAH2p.R501H
Missense
SNP
1.000
1Loss-
DNAH3p.R2205C
Missense
SNP
0.421
2--
DNAH7p.A1625T
Missense
SNP
0.318
2--
DNAH9-
-
-
-
1Loss-
DNAJB6-
-
-
-
1Loss-
DNAJB7p.K295Rfs*25
Frame_Shift_Del
DEL
0.515
2--
DNAJB9-
-
-
-
1Loss-
DNAJC15-
-
-
-
1Loss-
DNAJC2-
-
-
-
1Loss-
DNAJC27-
-
-
-
1Loss-
DNAJC30-
-
-
-
1Loss-
DNAJC5G-
-
-
-
1Loss-
DNAJC7-
-
-
-
3Gain-
DNASE1L2-
-
-
-
3Gain-
DNM3-
-
-
-
4Gain-
DNMT3A-
-
-
-
1Loss-
DOC2B-
-
-
-
1Loss-
DOCK4-
-
-
-
1Loss-
DOCK7p.L459S
Missense
SNP
0.463
2--
DPH1-
-
-
-
1Loss-
DPM3-
-
-
-
4Gain-
DPP6-
-
-
-
1Loss-
DPT-
-
-
-
4Gain-
DPY19L1-
-
-
-
3Gain-
DPY30-
-
-
-
1Loss-
DPYSL5-
-
-
-
1Loss-
DRC1-
-
-
-
1Loss-
DRC3-
-
-
-
1Loss-
DRG2-
-
-
-
1Loss-
DSCAML1p.A1350T
Missense
SNP
0.447
2--
DSTp.L1539Wfs*8
Frame_Shift_Del
DEL
0.103
2--
DSTYK-
-
-
-
4Gain-
DTL-
-
-
-
4Gain-
DTNB-
-
-
-
1Loss-
DTX2-
-
-
-
1Loss-
DTX4p.K396Nfs*34
Frame_Shift_Del
DEL
0.144
2--
DUOX1p.X309_splice
Splice_Site
SNP
0.522
2--
DUS4L-
-
-
-
1Loss-
DUSP10-
-
-
-
4Gain-
DUSP12-
-
-
-
4Gain-
DUSP14-
-
-
-
3Gain-
DUSP23-
-
-
-
4Gain-
DUSP27-
-
-
-
4Gain-
DVL2-
-
-
-
1Loss-
DYNC1H1p.R254*
p.E1564K
Nonsense
Missense
SNP
SNP
0.477
0.467
2--
DYNC1I1-
-
-
-
1Loss-
DYNC2H1p.Y2879H
Missense
SNP
0.588
2--
DYNC2LI1-
-
-
-
1Loss-
DYRK3-
-
-
-
4Gain-
E4F1-
-
-
-
3Gain-
EBAG9p.E114*
Nonsense
SNP
0.429
2--
EBPL-
-
-
-
1Loss-
ECDp.E443Rfs*3
Frame_Shift_Ins
INS
0.390
2--
ECI1-
-
-
-
3Gain-
ECM1-
-
-
-
4Gain-
EDARADD-
-
-
-
4Gain-
EDEM3-
-
-
-
4Gain-
EEPD1-
-
-
-
3Gain-
EFCAB10-
-
-
-
1Loss-
EFCAB2p.I19Sfs*18
Frame_Shift_Del
DEL
0.823
4Gain-
EFCAB5p.I751Nfs*9
Frame_Shift_Ins
INS
0.159
3Gain-
EFCAB8p.D1096G
Missense
SNP
0.453
2--
EFNA1-
-
-
-
4Gain-
EFNA3-
-
-
-
4Gain-
EFNA4-
-
-
-
4Gain-
EFNB3-
-
-
-
1Loss-
EFR3B-
-
-
-
1Loss-
EGFR-
-
-
-
3Gain-
EGLN1-
-
-
-
4Gain-
EHBP1p.A1093T
Missense
SNP
0.446
2--
EHD3p.R184C
Missense
SNP
1.000
1Loss-
EIF1-
-
-
-
3Gain-
EIF2AK1-
-
-
-
3Gain-
EIF2AK2-
-
-
-
1Loss-
EIF2B3p.K148E
Missense
SNP
0.543
2--
EIF2B4-
-
-
-
1Loss-
EIF2D-
-
-
-
4Gain-
EIF3B-
-
-
-
3Gain-
EIF3Jp.E61Rfs*5
Frame_Shift_Del
DEL
0.411
2--
EIF4A1-
-
-
-
1Loss-
EIF4EBP3-
-
-
-
3Gain-
EIF4H-
-
-
-
1Loss-
EIF5A-
-
-
-
1Loss-
ELAC2-
-
-
-
1Loss-
ELF1-
-
-
-
1Loss-
ELF3-
-
-
-
4Gain-
ELFN1-
-
-
-
3Gain-
ELK4-
-
-
-
4Gain-
ELMO1-
-
-
-
3Gain-
ELN-
-
-
-
1Loss-
ELP5-
-
-
-
1Loss-
EMC6-
-
-
-
1Loss-
EME2-
-
-
-
3Gain-
EMILIN1-
-
-
-
1Loss-
EML4-
-
-
-
1Loss-
EML6p.K1357Rfs*9
Frame_Shift_Del
DEL
0.500
2--
EN2-
-
-
-
1Loss-
ENAH-
-
-
-
4Gain-
ENO3-
-
-
-
1Loss-
ENOX1-
-
-
-
1Loss-
ENPP7P4-
-
-
-
NDNDAC004923.1--ENPP7P4
ENSA-
-
-
-
4Gain-
EP300p.A2353V
Missense
SNP
0.491
2--
EP400NLp.V51A
Missense
SNP
0.531
NDND-
EPAS1-
-
-
-
1Loss-
EPCAM-
-
-
-
1Loss-
EPDR1-
-
-
-
3Gain-
EPG5p.P2570Q
Missense
SNP
0.408
2--
EPHA1-
-
-
-
1Loss-
EPHA2p.P460Rfs*33
Frame_Shift_Del
DEL
0.465
2--
EPHA7p.E784D
Missense
SNP
0.611
2--
EPHB4-
-
-
-
1Loss-
EPHB6-
-
-
-
1Loss-
EPHX1-
-
-
-
4Gain-
EPM2AIP1p.S489Ffs*5
Frame_Shift_Ins
INS
0.225
2--
EPN2-
-
-
-
1Loss-
EPO-
-
-
-
1Loss-
EPOP-
-
-
-
3Gain-
EPRS-
-
-
-
4Gain-
EPS8L1p.R181C
Missense
SNP
0.492
2--
EPSTI1-
-
-
-
1Loss-
ERAL1-
-
-
-
3Gain-
ERBB2p.V424I
p.P780S
Missense
Missense
SNP
SNP
0.367
0.255
3Gain-
ERCC4p.R864C
Missense
SNP
0.462
2--
ERCC5p.E548Vfs*38
Frame_Shift_Del
DEL
0.371
2--
ERI2p.N270D
Missense
SNP
0.609
2--
ERICH6B-
-
-
-
1Loss-
ERO1B-
-
-
-
4Gain-
ERVV-1-
-
-
-
3Gain-
ERVV-2-
-
-
-
3Gain-
ESCO2p.R232H
Missense
SNP
0.108
2--
ESD-
-
-
-
1Loss-
ESRRGp.L463Wfs*10
Frame_Shift_Del
DEL
0.332
4Gain-
ESYT2-
-
-
-
1Loss-
ETNK2-
-
-
-
4Gain-
ETV1p.T139Hfs*24
Frame_Shift_Ins
INS
0.227
3Gain-
ETV3-
-
-
-
4Gain-
ETV3L-
-
-
-
4Gain-
ETV6p.W380C
Missense
SNP
0.549
2--
EVI2A-
-
-
-
3Gain-
EVI2B-
-
-
-
3Gain-
EVPLL-
-
-
-
1Loss-
EVX1-
-
-
-
3Gain-
EXO1-
-
-
-
4Gain-
EXOC4-
-
-
-
1Loss-
EXOC8-
-
-
-
4Gain-
EZH2-
-
-
-
1Loss-
F11R-
-
-
-
4Gain-
F13B-
-
-
-
4Gain-
F5-
-
-
-
4Gain-
FAHD1-
-
-
-
3Gain-
FAM126A-
-
-
-
3Gain-
FAM126Bp.T36Hfs*47
Frame_Shift_Del
DEL
0.472
2--
FAM129A-
-
-
-
4Gain-
FAM131B-
-
-
-
1Loss-
FAM133B-
-
-
-
1Loss-
FAM155Ap.Q91R
Missense
SNP
0.490
2--
FAM160A2p.L714P
Missense
SNP
0.519
2--
FAM163A-
-
-
-
4Gain-
FAM173A-
-
-
-
3Gain-
FAM177B-
-
-
-
4Gain-
FAM180A-
-
-
-
1Loss-
FAM185A-
-
-
-
1Loss-
FAM189B-
-
-
-
4Gain-
FAM200A-
-
-
-
1Loss-
FAM20B-
-
-
-
4Gain-
FAM20C-
-
-
-
3Gain-
FAM216B-
-
-
-
1Loss-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM222B-
-
-
-
3Gain-
FAM234A-
-
-
-
3Gain-
FAM3C-
-
-
-
1Loss-
FAM47Cp.S772T
Missense
SNP
0.984
NDND-
FAM57A-
-
-
-
1Loss-
FAM71A-
-
-
-
4Gain-
FAM71F1-
-
-
-
1Loss-
FAM71F2-
-
-
-
1Loss-
FAM72A-
-
-
-
4Gain-
FAM72C-
-
-
-
3Gain-
FAM72D-
-
-
-
3Gain-
FAM78B-
-
-
-
4Gain-
FAM83G-
-
-
-
1Loss-
FAM89A-
-
-
-
4Gain-
FAM91A1p.V317I
Missense
SNP
0.333
2--
FAM98A-
-
-
-
1Loss-
FAM98Cp.R318H
Missense
SNP
0.468
2--
FANCAp.T306M
Missense
SNP
0.411
2--
FASLG-
-
-
-
4Gain-
FASTK-
-
-
-
1Loss-
FAT3p.S3694R
Missense
SNP
0.500
2--
FBN3p.G1577Vfs*72
Frame_Shift_Del
DEL
0.536
2--
FBXL13-
-
-
-
1Loss-
FBXL16-
-
-
-
3Gain-
FBXL18-
-
-
-
3Gain-
FBXL20-
-
-
-
3Gain-
FBXO11-
-
-
-
1Loss-
FBXO24-
-
-
-
1Loss-
FBXO28-
-
-
-
4Gain-
FBXO34p.I120Lfs*13
Frame_Shift_Del
DEL
0.409
2--
FBXO39-
-
-
-
1Loss-
FBXO47-
-
-
-
3Gain-
FBXW10-
-
-
-
1Loss-
FCAMRp.P477H
Missense
SNP
0.193
4Gain-
FCER1A-
-
-
-
4Gain-
FCER1G-
-
-
-
4Gain-
FCGR1A-
-
-
-
3Gain-
FCGR2A-
-
-
-
4Gain-
FCGR2B-
-
-
-
4Gain-
FCGR2C-
-
-
-
4Gain-
FCGR3A-
-
-
-
4Gain-
FCGR3B-
-
-
-
4Gain-
FCMR-
-
-
-
4Gain-
FCN2p.G139R
Missense
SNP
0.446
2--
FCRL1-
-
-
-
4Gain-
FCRL2-
-
-
-
4Gain-
FCRL3-
-
-
-
4Gain-
FCRL4-
-
-
-
4Gain-
FCRL5-
-
-
-
4Gain-
FCRL6-
-
-
-
4Gain-
FCRLA-
-
-
-
4Gain-
FCRLB-
-
-
-
4Gain-
FDPS-
-
-
-
4Gain-
FERD3L-
-
-
-
3Gain-
FEZ2-
-
-
-
1Loss-
FEZF1-
-
-
-
1Loss-
FGD3p.A107V
Missense
SNP
0.522
2--
FGF11-
-
-
-
1Loss-
FGFR4p.R650C
Missense
SNP
0.537
2--
FGL2-
-
-
-
1Loss-
FH-
-
-
-
4Gain-
FHAD1p.A294T
Missense
SNP
0.440
2--
FIGNL1-
-
-
-
3Gain-
FIS1-
-
-
-
1Loss-
FKBP10-
-
-
-
3Gain-
FKBP14-
-
-
-
3Gain-
FKBP6-
-
-
-
1Loss-
FKBP9-
-
-
-
3Gain-
FLAD1-
-
-
-
4Gain-
FLCN-
-
-
-
1Loss-
FLGp.D2520N
p.R1781C
Missense
Missense
SNP
SNP
0.712
0.207
6Amp-
FLG2-
-
-
-
4Gain-
FLII-
-
-
-
1Loss-
FLNC-
-
-
-
1Loss-
FLOT2-
-
-
-
3Gain-
FLVCR1-
-
-
-
4Gain-
FMC1-
-
-
-
1Loss-
FMN2p.Q1624H
Missense
SNP
0.211
4Gain-
FMO1-
-
-
-
4Gain-
FMO2-
-
-
-
4Gain-
FMO3-
-
-
-
4Gain-
FMO4-
-
-
-
4Gain-
FMO5p.K260Rfs*2
Frame_Shift_Del
DEL
0.308
5Amp-
FMOD-
-
-
-
4Gain-
FNDC3A-
-
-
-
1Loss-
FNDC4p.S11Afs*17
Frame_Shift_Del
DEL
0.194
1Loss-
FNDC8-
-
-
-
3Gain-
FOSL2-
-
-
-
1Loss-
FOXA1p.A131T
Missense
SNP
0.502
2--
FOXJ2p.P307Q
Missense
SNP
0.500
2--
FOXK1-
-
-
-
3Gain-
FOXN1p.V636M
Missense
SNP
0.289
3Gain-
FOXN2-
-
-
-
1Loss-
FOXO1-
-
-
-
1Loss-
FOXP1p.L414*
Frame_Shift_Del
DEL
0.160
2--
FOXP2-
-
-
-
1Loss-
FOXS1p.H99R
Missense
SNP
0.471
2--
FP565260.1-
-
-
-
1Loss-
FP565260.2-
-
-
-
1Loss-
FP565260.3-
-
-
-
1Loss-
FP565260.4-
-
-
-
1Loss-
FP565260.6-
-
-
-
1Loss-
FPR3p.I279N
Missense
SNP
0.395
2--
FSCN1-
-
-
-
3Gain-
FSCN3-
-
-
-
1Loss-
FSHR-
-
-
-
1Loss-
FSIP2p.V6411*
Frame_Shift_Del
DEL
0.406
2--
FSTL5p.P590Q
Missense
SNP
0.524
2--
FXR1p.R368C
Missense
SNP
0.308
2--
FXR2-
-
-
-
1Loss-
FZD1-
-
-
-
1Loss-
FZD9-
-
-
-
1Loss-
G0S2-
-
-
-
4Gain-
G2E3-
-
-
-
1Loss-
GABARAP-
-
-
-
1Loss-
GABBR2p.G603Afs*4
Frame_Shift_Del
DEL
0.458
2--
GABPB2-
-
-
-
4Gain-
GABRB3p.A277V
Missense
SNP
0.538
2--
GABRG3p.G157R
Missense
SNP
0.547
2--
GAD1p.E203D
Missense
SNP
0.554
2--
GAKp.N986Rfs*4
p.A892T
Frame_Shift_Del
Missense
DEL
SNP
0.500
0.472
2--
GAL3ST4-
-
-
-
1Loss-
GALM-
-
-
-
1Loss-
GALNT11-
-
-
-
1Loss-
GALNT14-
-
-
-
1Loss-
GALNT17-
-
-
-
1Loss-
GALNT2-
-
-
-
4Gain-
GALNTL5-
-
-
-
1Loss-
GANp.T119Pfs*53
Frame_Shift_Del
DEL
0.417
2--
GAREM2-
-
-
-
1Loss-
GARS-
-
-
-
3Gain-
GAS2L2-
-
-
-
3Gain-
GAS7-
-
-
-
1Loss-
GAST-
-
-
-
3Gain-
GATAD1-
-
-
-
1Loss-
GATAD2B-
-
-
-
4Gain-
GATBp.K421Rfs*2
Frame_Shift_Del
DEL
0.651
2--
GATD3B-
-
-
-
1Loss-
GBA-
-
-
-
4Gain-
GBX1-
-
-
-
1Loss-
GCC1-
-
-
-
1Loss-
GCK-
-
-
-
3Gain-
GCKR-
-
-
-
1Loss-
GCSAML-
-
-
-
4Gain-
GCSAML-AS1-
-
-
-
4Gain-
GEMIN4-
-
-
-
1Loss-
GEMIN6-
-
-
-
1Loss-
GET4-
-
-
-
3Gain-
GFER-
-
-
-
3Gain-
GGCT-
-
-
-
3Gain-
GGNBP2-
-
-
-
3Gain-
GGPS1-
-
-
-
4Gain-
GGT6-
-
-
-
1Loss-
GGT7p.G594D
Missense
SNP
0.484
2--
GHDC-
-
-
-
3Gain-
GHRHR-
-
-
-
3Gain-
GID4-
-
-
-
1Loss-
GIGYF1-
-
-
-
1Loss-
GIMAP1-
-
-
-
1Loss-
GIMAP1-GIMAP5-
-
-
-
1Loss-
GIMAP2-
-
-
-
1Loss-
GIMAP4p.V212M
Missense
SNP
1.000
1Loss-
GIMAP5-
-
-
-
1Loss-
GIMAP6-
-
-
-
1Loss-
GIMAP7-
-
-
-
1Loss-
GIMAP8-
-
-
-
1Loss-
GIT1-
-
-
-
3Gain-
GJA1p.R299H
Missense
SNP
0.457
2--
GJA5-
-
-
-
5Amp-
GJA8-
-
-
-
5Amp-
GJC2-
-
-
-
4Gain-
GJC3-
-
-
-
1Loss-
GJD3-
-
-
-
3Gain-
GLCCI1-
-
-
-
3Gain-
GLI3-
-
-
-
3Gain-
GLMP-
-
-
-
4Gain-
GLOD4-
-
-
-
1Loss-
GLP2R-
-
-
-
1Loss-
GLRA1p.W198C
Missense
SNP
0.584
2--
GLRX2-
-
-
-
4Gain-
GLTPD2-
-
-
-
1Loss-
GLUL-
-
-
-
4Gain-
GNA12-
-
-
-
3Gain-
GNAI1-
-
-
-
1Loss-
GNASp.R16C
Missense
SNP
0.445
2--
GNAT3-
-
-
-
1Loss-
GNAZp.Q205Rfs*29
Frame_Shift_Del
DEL
0.449
2--
GNB2-
-
-
-
1Loss-
GNG11-
-
-
-
1Loss-
GNG13-
-
-
-
3Gain-
GNG4-
-
-
-
4Gain-
GNGT1-
-
-
-
1Loss-
GNPAT-
-
-
-
4Gain-
GNPTG-
-
-
-
3Gain-
GOLPH3L-
-
-
-
4Gain-
GOLT1A-
-
-
-
4Gain-
GON4Lp.M134*
Frame_Shift_Del
DEL
0.246
4Gain-
GORAB-
-
-
-
4Gain-
GOSR1-
-
-
-
3Gain-
GP1BA-
-
-
-
1Loss-
GPA33-
-
-
-
4Gain-
GPALPP1-
-
-
-
1Loss-
GPATCH11-
-
-
-
1Loss-
GPATCH2-
-
-
-
4Gain-
GPATCH4-
-
-
-
4Gain-
GPC2-
-
-
-
1Loss-
GPER1-
-
-
-
3Gain-
GPN1-
-
-
-
1Loss-
GPNMB-
-
-
-
3Gain-
GPR137B-
-
-
-
4Gain-
GPR161p.G517Afs*13
Frame_Shift_Del
DEL
0.234
4Gain-
GPR179-
-
-
-
3Gain-
GPR22-
-
-
-
1Loss-
GPR25-
-
-
-
4Gain-
GPR37-
-
-
-
1Loss-
GPR37L1-
-
-
-
4Gain-
GPR52-
-
-
-
4Gain-
GPR85-
-
-
-
1Loss-
GPR88p.G45Afs*27
Frame_Shift_Del
DEL
0.449
2--
GPR89A-
-
-
-
3Gain-
GPR89B-
-
-
-
5Amp-
GPRASP1p.G1084Afs*66
Frame_Shift_Del
DEL
0.905
NDND-
GPS2-
-
-
-
1Loss-
GPSM1p.R102H
Missense
SNP
0.570
2--
GRAP-
-
-
-
1Loss-
GRAPL-
-
-
-
1Loss-
GRB10-
-
-
-
3Gain-
GRB7-
-
-
-
3Gain-
GREM2-
-
-
-
4Gain-
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIK1p.S345T
Missense
SNP
0.490
2--
GRM3-
-
-
-
1Loss-
GRM8-
-
-
-
1Loss-
GSAP-
-
-
-
1Loss-
GSDMA-
-
-
-
3Gain-
GSDMB-
-
-
-
3Gain-
GSDME-
-
-
-
3Gain-
GSE1p.S572L
Missense
SNP
0.445
2--
GSTK1-
-
-
-
1Loss-
GTF2A1L-
-
-
-
1Loss-
GTF2F2-
-
-
-
1Loss-
GTF2I-
-
-
-
1Loss-
GTF2IRD1-
-
-
-
1Loss-
GTF2IRD2-
-
-
-
1Loss-
GTF2IRD2B-
-
-
-
1Loss-
GTF3C1p.V1592M
Missense
SNP
0.417
2--
GTF3C2-
-
-
-
1Loss-
GTPBP10-
-
-
-
1Loss-
GUCY2D-
-
-
-
1Loss-
GUK1-
-
-
-
4Gain-
GUSB-
-
-
-
1Loss-
H2AFV-
-
-
-
3Gain-
H2BFS-
-
-
-
1Loss-
H3F3A-
-
-
-
4Gain-
HAAO-
-
-
-
1Loss-
HADHA-
-
-
-
1Loss-
HADHB-
-
-
-
1Loss-
HAGH-
-
-
-
3Gain-
HAGHL-
-
-
-
3Gain-
HAP1-
-
-
-
3Gain-
HAPLN2-
-
-
-
4Gain-
HARBI1p.R168Q
Missense
SNP
0.473
2--
HAS1p.S96N
Missense
SNP
0.447
2--
HASPIN-
-
-
-
1Loss-
HAX1-
-
-
-
4Gain-
HBA1-
-
-
-
3Gain-
HBA2-
-
-
-
3Gain-
HBM-
-
-
-
3Gain-
HBP1-
-
-
-
1Loss-
HBQ1-
-
-
-
3Gain-
HBZ-
-
-
-
3Gain-
HCAR2p.L345S
Missense
SNP
0.371
2--
HCN3-
-
-
-
4Gain-
HCRT-
-
-
-
3Gain-
HDAC9-
-
-
-
3Gain-
HDGF-
-
-
-
4Gain-
HEATR1-
-
-
-
4Gain-
HEATR5B-
-
-
-
1Loss-
HEATR9-
-
-
-
3Gain-
HECAp.R346W
Missense
SNP
0.452
2--
HECTD4p.E3909K
p.V2795I
Missense
Missense
SNP
SNP
0.438
0.471
2--
HECW1-
-
-
-
3Gain-
HEPACAM2-
-
-
-
1Loss-
HERPUD2-
-
-
-
3Gain-
HES7-
-
-
-
1Loss-
HGF-
-
-
-
1Loss-
HHAT-
-
-
-
4Gain-
HHIPL2-
-
-
-
4Gain-
HIBADH-
-
-
-
3Gain-
HIC1-
-
-
-
1Loss-
HILPDA-
-
-
-
1Loss-
HIP1-
-
-
-
1Loss-
HIPK2p.R133H
Missense
SNP
1.000
1Loss-
HIST1H1Ep.K183Rfs*46
Frame_Shift_Del
DEL
0.522
2--
HIST1H2BNp.Y41H
Missense
SNP
0.511
2--
HIST2H2AB-
-
-
-
4Gain-
HIST2H2AC-
-
-
-
4Gain-
HIST2H2BE-
-
-
-
4Gain-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
4Gain-
HIST2H3C-
-
-
-
4Gain-
HIST2H3D-
-
-
-
4Gain-
HIST2H3PS2-
-
-
-
3Gain-
HIST2H4A-
-
-
-
4Gain-
HIST2H4B-
-
-
-
4Gain-
HIST3H2A-
-
-
-
4Gain-
HIST3H2BB-
-
-
-
4Gain-
HIST3H3-
-
-
-
4Gain-
HJV-
-
-
-
3Gain-
HLA-DOAp.R105C
Missense
SNP
0.474
2--
HLX-
-
-
-
4Gain-
HMCN1-
-
-
-
4Gain-
HMGXB4p.K391Rfs*33
Frame_Shift_Del
DEL
0.547
2--
HMX2p.K79Qfs*39
Frame_Shift_Ins
INS
0.346
2--
HNF1B-
-
-
-
3Gain-
HNF4Ap.G231R
Missense
SNP
0.432
2--
HNRNPA2B1-
-
-
-
3Gain-
HNRNPLL-
-
-
-
1Loss-
HNRNPU-
-
-
-
4Gain-
HORMAD1-
-
-
-
4Gain-
HOXA1-
-
-
-
3Gain-
HOXA10-
-
-
-
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13p.A92V
Missense
SNP
0.339
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3-
-
-
-
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HOXB3p.Q34Nfs*41
Frame_Shift_Del
DEL
0.498
2--
HPRp.S286Y
Missense
SNP
0.487
2--
HPS1p.M325Pfs*7
Frame_Shift_Ins
INS
0.256
2--
HRNR-
-
-
-
4Gain-
HS3ST3A1p.T270M
Missense
SNP
0.559
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HS3ST6-
-
-
-
3Gain-
HSCBp.R52Gfs*73
Frame_Shift_Del
DEL
0.506
2--
HSD11B1-
-
-
-
4Gain-
HSD17B7-
-
-
-
4Gain-
HSD3B7p.R156M
Missense
SNP
0.595
2--
HSF2BP-
-
-
-
1Loss-
HSPA6-
-
-
-
4Gain-
HSPB1-
-
-
-
1Loss-
HSPB9-
-
-
-
3Gain-
HSPG2p.T972M
Missense
SNP
0.421
2--
HTR2A-
-
-
-
1Loss-
HTR2Cp.S149L
Missense
SNP
1.000
NDND-
HTR5A-
-
-
-
1Loss-
HUS1-
-
-
-
3Gain-
HYAL4-
-
-
-
1Loss-
HYDINp.R2533L
p.L849F
Missense
Missense
SNP
SNP
0.493
0.522
2--
IARS2-
-
-
-
4Gain-
IBA57-
-
-
-
4Gain-
ICA1-
-
-
-
3Gain-
ICE1p.F326Lfs*82
Frame_Shift_Del
DEL
0.384
2--
IER5-
-
-
-
4Gain-
IFI16-
-
-
-
4Gain-
IFRD1-
-
-
-
1Loss-
IFT140-
-
-
-
3Gain-
IFT172-
-
-
-
1Loss-
IFT20-
-
-
-
3Gain-
IFT22-
-
-
-
1Loss-
IGF2BP3-
-
-
-
3Gain-
IGFALS-
-
-
-
3Gain-
IGFBP1-
-
-
-
3Gain-
IGFBP3-
-
-
-
3Gain-
IGFBP4-
-
-
-
3Gain-
IGFN1-
-
-
-
4Gain-
IGSF8-
-
-
-
4Gain-
IGSF9-
-
-
-
4Gain-
IKBKE-
-
-
-
4Gain-
IKZF1-
-
-
-
3Gain-
IKZF3-
-
-
-
3Gain-
IL10-
-
-
-
4Gain-
IL19-
-
-
-
4Gain-
IL1RAPp.P663Lfs*66
Frame_Shift_Del
DEL
0.500
2--
IL20-
-
-
-
4Gain-
IL24-
-
-
-
4Gain-
IL36Bp.R15C
Missense
SNP
0.528
2--
IL4Rp.E57K
Missense
SNP
0.484
2--
IL6-
-
-
-
3Gain-
IL6R-
-
-
-
4Gain-
ILDR2-
-
-
-
4Gain-
ILF2-
-
-
-
4Gain-
IMMP2L-
-
-
-
1Loss-
IMPDH1-
-
-
-
1Loss-
INAVA-
-
-
-
4Gain-
INCA1-
-
-
-
1Loss-
ING3-
-
-
-
1Loss-
INHBA-
-
-
-
3Gain-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INPP5K-
-
-
-
1Loss-
INSIG1-
-
-
-
1Loss-
INSRp.D523Rfs*40
Frame_Shift_Ins
INS
0.390
2--
INSRR-
-
-
-
4Gain-
INTS1p.R496Q
Missense
SNP
0.681
3Gain-
INTS3-
-
-
-
4Gain-
INTS7-
-
-
-
4Gain-
IPO8p.X692_splice
Splice_Site
SNP
0.556
2--
IPO9-
-
-
-
4Gain-
IQCE-
-
-
-
3Gain-
IQGAP3-
-
-
-
4Gain-
IQUB-
-
-
-
1Loss-
IRF2BP1p.A430V
Missense
SNP
0.534
2--
IRF2BP2-
-
-
-
4Gain-
IRF5-
-
-
-
1Loss-
IRF6-
-
-
-
4Gain-
IRS1p.G1062Afs*8
Frame_Shift_Del
DEL
0.426
2--
IRX1p.P458L
Missense
SNP
0.540
2--
IRX4p.G256Afs*46
Frame_Shift_Del
DEL
0.468
2--
ISG20L2-
-
-
-
4Gain-
ISPD-
-
-
-
3Gain-
ITGA10-
-
-
-
3Gain-
ITGAE-
-
-
-
1Loss-
ITGAVp.S1046Qfs*8
Frame_Shift_Del
DEL
0.569
2--
ITGB8-
-
-
-
3Gain-
ITLN1-
-
-
-
4Gain-
ITLN2-
-
-
-
4Gain-
ITM2B-
-
-
-
1Loss-
ITPKB-
-
-
-
4Gain-
ITPR1p.W282*
Nonsense
SNP
0.472
2--
ITPRID1-
-
-
-
3Gain-
IVL-
-
-
-
4Gain-
IVNS1ABP-
-
-
-
4Gain-
JADE1p.T133M
Missense
SNP
0.510
2--
JARID2p.Q119R
Missense
SNP
0.551
2--
JAZF1-
-
-
-
3Gain-
JMJD4-
-
-
-
4Gain-
JMJD8-
-
-
-
3Gain-
JPT2-
-
-
-
3Gain-
JTB-
-
-
-
4Gain-
JUP-
-
-
-
3Gain-
KANSL1p.G204Vfs*2
Frame_Shift_Del
DEL
0.291
2--
KAT2Ap.E166D
Missense
SNP
0.062
3Gain-
KBTBD2-
-
-
-
3Gain-
KBTBD6-
-
-
-
1Loss-
KBTBD7-
-
-
-
1Loss-
KCNAB3p.G46Vfs*33
Frame_Shift_Del
DEL
0.980
1Loss-
KCNB2p.R29Q
Missense
SNP
0.512
2--
KCND2-
-
-
-
1Loss-
KCNG3-
-
-
-
1Loss-
KCNH1-
-
-
-
4Gain-
KCNH2-
-
-
-
1Loss-
KCNH3p.R566H
Missense
SNP
0.497
2--
KCNH4-
-
-
-
3Gain-
KCNJ10-
-
-
-
4Gain-
KCNJ12-
-
-
-
1Loss-
KCNJ18-
-
-
-
1Loss-
KCNJ9-
-
-
-
4Gain-
KCNK1-
-
-
-
4Gain-
KCNK12-
-
-
-
1Loss-
KCNK2-
-
-
-
4Gain-
KCNK3-
-
-
-
1Loss-
KCNMA1p.N798Tfs*7
Frame_Shift_Del
DEL
0.506
2--
KCNN3-
-
-
-
4Gain-
KCNQ3p.R236H
Missense
SNP
0.488
2--
KCNQ5p.P2S
Missense
SNP
0.452
2--
KCNRG-
-
-
-
1Loss-
KCNT2-
-
-
-
4Gain-
KCP-
-
-
-
1Loss-
KCTD11-
-
-
-
1Loss-
KCTD3-
-
-
-
4Gain-
KCTD4-
-
-
-
1Loss-
KCTD7-
-
-
-
1Loss-
KDELR2-
-
-
-
3Gain-
KDM5B-
-
-
-
4Gain-
KDM6B-
-
-
-
1Loss-
KDM7A-
-
-
-
1Loss-
KELp.E78D
Missense
SNP
1.000
1Loss-
KHDC4-
-
-
-
4Gain-
KHK-
-
-
-
1Loss-
KHSRPp.G410Afs*18
Frame_Shift_Del
DEL
0.490
2--
KIAA0040-
-
-
-
4Gain-
KIAA0100-
-
-
-
3Gain-
KIAA0753-
-
-
-
1Loss-
KIAA0895-
-
-
-
3Gain-
KIAA1147-
-
-
-
1Loss-
KIAA1161p.T388M
Missense
SNP
0.234
NDND-
KIAA1324Lp.V235L
Missense
SNP
1.000
1Loss-
KIAA1549-
-
-
-
1Loss-
KIAA1614-
-
-
-
4Gain-
KIF14-
-
-
-
4Gain-
KIF1C-
-
-
-
1Loss-
KIF21B-
-
-
-
4Gain-
KIF26B-
-
-
-
4Gain-
KIF3C-
-
-
-
1Loss-
KIFAP3-
-
-
-
4Gain-
KIRREL1-
-
-
-
4Gain-
KISS1-
-
-
-
4Gain-
KLF14-
-
-
-
1Loss-
KLHDC10-
-
-
-
1Loss-
KLHDC8A-
-
-
-
4Gain-
KLHDC9-
-
-
-
4Gain-
KLHL10-
-
-
-
3Gain-
KLHL11-
-
-
-
3Gain-
KLHL12-
-
-
-
4Gain-
KLHL20-
-
-
-
4Gain-
KLHL6p.V615M
Missense
SNP
0.453
2--
KLHL7-
-
-
-
3Gain-
KLRG2-
-
-
-
1Loss-
KMO-
-
-
-
4Gain-
KMT2C-
-
-
-
1Loss-
KMT2Dp.Q827Nfs*103
Frame_Shift_Del
DEL
0.528
2--
KMT2E-
-
-
-
1Loss-
KNOP1p.G320Afs*8
Frame_Shift_Del
DEL
0.467
2--
KPNA3-
-
-
-
1Loss-
KPNA7-
-
-
-
1Loss-
KPRP-
-
-
-
4Gain-
KRASp.G12V
Missense
SNP
0.525
2--
KRBA1-
-
-
-
1Loss-
KRBA2-
-
-
-
1Loss-
KRCC1p.S183Afs*7
Frame_Shift_Del
DEL
0.444
2--
KRIT1-
-
-
-
1Loss-
KRT10-
-
-
-
3Gain-
KRT12-
-
-
-
3Gain-
KRT13-
-
-
-
3Gain-
KRT14-
-
-
-
3Gain-
KRT15-
-
-
-
3Gain-
KRT16-
-
-
-
3Gain-
KRT17-
-
-
-
3Gain-
KRT19-
-
-
-
3Gain-
KRT20-
-
-
-
3Gain-
KRT222-
-
-
-
3Gain-
KRT23-
-
-
-
3Gain-
KRT24-
-
-
-
3Gain-
KRT25-
-
-
-
3Gain-
KRT26-
-
-
-
3Gain-
KRT27-
-
-
-
3Gain-
KRT28-
-
-
-
3Gain-
KRT31-
-
-
-
3Gain-
KRT32-
-
-
-
3Gain-
KRT33A-
-
-
-
3Gain-
KRT33B-
-
-
-
3Gain-
KRT34-
-
-
-
3Gain-
KRT35-
-
-
-
3Gain-
KRT36-
-
-
-
3Gain-
KRT37-
-
-
-
3Gain-
KRT38-
-
-
-
3Gain-
KRT39-
-
-
-
3Gain-
KRT40-
-
-
-
3Gain-
KRT80p.R144H
Missense
SNP
0.131
2--
KRT84p.G511R
Missense
SNP
0.525
2--
KRT9-
-
-
-
3Gain-
KRTAP1-1-
-
-
-
3Gain-
KRTAP1-3-
-
-
-
3Gain-
KRTAP1-4-
-
-
-
3Gain-
KRTAP1-5-
-
-
-
3Gain-
KRTAP16-1-
-
-
-
3Gain-
KRTAP17-1-
-
-
-
3Gain-
KRTAP2-2-
-
-
-
3Gain-
KRTAP29-1-
-
-
-
3Gain-
KRTAP3-1-
-
-
-
3Gain-
KRTAP3-2-
-
-
-
3Gain-
KRTAP3-3-
-
-
-
3Gain-
KRTAP4-1-
-
-
-
3Gain-
KRTAP4-16-
-
-
-
3Gain-
KRTAP4-3-
-
-
-
3Gain-
KRTAP4-7-
-
-
-
3Gain-
KRTAP4-8-
-
-
-
3Gain-
KRTAP9-1-
-
-
-
3Gain-
KRTAP9-6-
-
-
-
3Gain-
KRTAP9-7-
-
-
-
3Gain-
KRTAP9-9-
-
-
-
3Gain-
KRTCAP2-
-
-
-
4Gain-
KRTCAP3-
-
-
-
1Loss-
KSR1-
-
-
-
3Gain-
LACC1-
-
-
-
1Loss-
LAD1-
-
-
-
4Gain-
LAMB1p.R1161H
Missense
SNP
1.000
1Loss-
LAMB2p.R644C
Missense
SNP
0.540
2--
LAMB3-
-
-
-
4Gain-
LAMB4-
-
-
-
1Loss-
LAMC1-
-
-
-
4Gain-
LAMC2-
-
-
-
4Gain-
LAMC3p.X227_splice
Splice_Site
SNP
0.503
2--
LAMTOR2-
-
-
-
4Gain-
LAMTOR4-
-
-
-
1Loss-
LANCL2-
-
-
-
3Gain-
LAPTM4Ap.Y201H
Missense
SNP
0.449
2--
LARP4Bp.T163Hfs*47
Frame_Shift_Del
DEL
0.486
2--
LASP1-
-
-
-
3Gain-
LAT2-
-
-
-
1Loss-
LAX1-
-
-
-
4Gain-
LBH-
-
-
-
1Loss-
LBR-
-
-
-
4Gain-
LCE1A-
-
-
-
4Gain-
LCE1B-
-
-
-
4Gain-
LCE1Cp.R82C
Missense
SNP
0.766
4Gain-
LCE1D-
-
-
-
4Gain-
LCE1E-
-
-
-
4Gain-
LCE1F-
-
-
-
4Gain-
LCE2A-
-
-
-
4Gain-
LCE2B-
-
-
-
4Gain-
LCE2C-
-
-
-
4Gain-
LCE2D-
-
-
-
4Gain-
LCE3A-
-
-
-
4Gain-
LCE3B-
-
-
-
4Gain-
LCE3C-
-
-
-
4Gain-
LCE3D-
-
-
-
4Gain-
LCE3E-
-
-
-
4Gain-
LCE4A-
-
-
-
4Gain-
LCE5A-
-
-
-
4Gain-
LCE6A-
-
-
-
4Gain-
LCLAT1-
-
-
-
1Loss-
LCP1-
-
-
-
1Loss-
LCP2p.T454Qfs*73
Frame_Shift_Del
DEL
0.451
2--
LEFTY1-
-
-
-
4Gain-
LEFTY2-
-
-
-
4Gain-
LELP1-
-
-
-
4Gain-
LEMD1-
-
-
-
4Gain-
LENEP-
-
-
-
4Gain-
LEP-
-
-
-
1Loss-
LFNG-
-
-
-
3Gain-
LGALS2p.K131del
In_Frame_Del
DEL
0.452
2--
LGALS8-
-
-
-
4Gain-
LGALS9-
-
-
-
3Gain-
LGALS9B-
-
-
-
1Loss-
LGALS9C-
-
-
-
1Loss-
LGR6-
-
-
-
4Gain-
LHCGR-
-
-
-
1Loss-
LHFPL3-
-
-
-
1Loss-
LHX1-
-
-
-
3Gain-
LHX4-
-
-
-
4Gain-
LHX9-
-
-
-
4Gain-
LIG3-
-
-
-
3Gain-
LILRB4p.A357V
Missense
SNP
0.561
2--
LIMK1-
-
-
-
1Loss-
LIN9-
-
-
-
4Gain-
LINGO4-
-
-
-
4Gain-
LIPCp.R138C
Missense
SNP
0.492
2--
LIX1L-
-
-
-
3Gain-
LLCFC1-
-
-
-
1Loss-
LLGL1-
-
-
-
1Loss-
LMBR1-
-
-
-
1Loss-
LMF1-
-
-
-
3Gain-
LMNA-
-
-
-
4Gain-
LMOD1-
-
-
-
4Gain-
LMOD2-
-
-
-
1Loss-
LMTK2-
-
-
-
1Loss-
LMTK3p.K1228Sfs*117
Frame_Shift_Del
DEL
0.081
2--
LMX1A-
-
-
-
4Gain-
LNPEPp.I501Yfs*12
Frame_Shift_Del
DEL
0.382
2--
LOR-
-
-
-
4Gain-
LPAR6-
-
-
-
1Loss-
LPGAT1-
-
-
-
4Gain-
LRCH1-
-
-
-
1Loss-
LRCH4-
-
-
-
1Loss-
LRGUK-
-
-
-
1Loss-
LRPPRC-
-
-
-
1Loss-
LRRC16Ap.T645Qfs*13
Frame_Shift_Del
DEL
0.375
NDND-
LRRC17-
-
-
-
1Loss-
LRRC37B-
-
-
-
3Gain-
LRRC3C-
-
-
-
3Gain-
LRRC4-
-
-
-
1Loss-
LRRC41p.R401C
Missense
SNP
0.324
2--
LRRC52-
-
-
-
4Gain-
LRRC61-
-
-
-
1Loss-
LRRC63-
-
-
-
1Loss-
LRRC71-
-
-
-
4Gain-
LRRC72-
-
-
-
3Gain-
LRRC75A-
-
-
-
1Loss-
LRRD1-
-
-
-
1Loss-
LRRN2p.R372C
Missense
SNP
0.221
4Gain-
LRRN3-
-
-
-
1Loss-
LRWD1-
-
-
-
1Loss-
LSM5-
-
-
-
3Gain-
LSM8-
-
-
-
1Loss-
LSMEM1-
-
-
-
1Loss-
LTBP1-
-
-
-
1Loss-
LUC7L-
-
-
-
3Gain-
LUC7L2-
-
-
-
1Loss-
LUZP6-
-
-
-
1Loss-
LY9-
-
-
-
4Gain-
LYPD8-
-
-
-
4Gain-
LYPLAL1-
-
-
-
4Gain-
LYRM9-
-
-
-
3Gain-
LYSMD1-
-
-
-
4Gain-
LYST-
-
-
-
4Gain-
LYZL6-
-
-
-
3Gain-
MACC1-
-
-
-
3Gain-
MAD1L1-
-
-
-
3Gain-
MAEL-
-
-
-
4Gain-
MAFAp.A3V
Missense
SNP
0.315
2--
MAFK-
-
-
-
3Gain-
MAGEC2p.P290S
p.I172N
Missense
Missense
SNP
SNP
1.000
1.000
NDND-
MAGI2-
-
-
-
1Loss-
MAGT1p.T283M
Missense
SNP
1.000
NDND-
MALSU1-
-
-
-
3Gain-
MAP10-
-
-
-
4Gain-
MAP1LC3C-
-
-
-
4Gain-
MAP2K3-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP3K21-
-
-
-
4Gain-
MAP4K3-
-
-
-
1Loss-
MAPK7-
-
-
-
1Loss-
MAPK8IP3-
-
-
-
3Gain-
MAPKAPK2-
-
-
-
4Gain-
MAPRE3-
-
-
-
1Loss-
MARC1-
-
-
-
4Gain-
MARC2-
-
-
-
4Gain-
MARCH11p.W273*
Nonsense
SNP
0.463
2--
MARK1-
-
-
-
4Gain-
MBLAC1-
-
-
-
1Loss-
MCCC2p.T385Yfs*27
Frame_Shift_Ins
INS
0.107
2--
MCFD2-
-
-
-
1Loss-
MCL1-
-
-
-
4Gain-
MCM7-
-
-
-
1Loss-
MCRIP2-
-
-
-
3Gain-
MDFIC-
-
-
-
1Loss-
MDH2-
-
-
-
1Loss-
MDM4-
-
-
-
4Gain-
MECP2p.L336M
Missense
SNP
1.000
NDND-
MED1-
-
-
-
3Gain-
MED11-
-
-
-
1Loss-
MED24-
-
-
-
3Gain-
MED31-
-
-
-
1Loss-
MED4-
-
-
-
1Loss-
MED9-
-
-
-
1Loss-
MEF2D-
-
-
-
4Gain-
MEI4p.K232Sfs*18
Frame_Shift_Del
DEL
0.471
2--
MEIOB-
-
-
-
3Gain-
MEIOCp.R808C
Missense
SNP
0.548
2--
MEMO1-
-
-
-
1Loss-
MEN1p.T585M
Missense
SNP
0.405
2--
MEOX2-
-
-
-
3Gain-
MEPCE-
-
-
-
1Loss-
MEST-
-
-
-
1Loss-
MET-
-
-
-
1Loss-
METRN-
-
-
-
3Gain-
METTL11B-
-
-
-
4Gain-
METTL13-
-
-
-
4Gain-
METTL16-
-
-
-
1Loss-
METTL18-
-
-
-
4Gain-
METTL26-
-
-
-
3Gain-
METTL27-
-
-
-
1Loss-
METTL2B-
-
-
-
1Loss-
MEX3A-
-
-
-
4Gain-
MEX3Dp.A436V
Missense
SNP
0.431
2--
MFAP4-
-
-
-
1Loss-
MFRPp.H384Tfs*94
Frame_Shift_Del
DEL
0.505
2--
MFSD14Bp.L277Sfs*13
Frame_Shift_Ins
INS
0.270
2--
MFSD4A-
-
-
-
4Gain-
MFSD6L-
-
-
-
1Loss-
MGAM-
-
-
-
1Loss-
MGST3-
-
-
-
4Gain-
MIA3-
-
-
-
4Gain-
MICALL2-
-
-
-
3Gain-
MIEF2-
-
-
-
1Loss-
MIEN1-
-
-
-
3Gain-
MINDY1-
-
-
-
4Gain-
MINDY4-
-
-
-
3Gain-
MINK1-
-
-
-
1Loss-
MIOS-
-
-
-
3Gain-
MIS12-
-
-
-
1Loss-
MITFp.R73C
Missense
SNP
0.524
2--
MIXL1p.R146H
Missense
SNP
0.304
4Gain-
MKI67p.T3223M
Missense
SNP
0.584
2--
MKLN1-
-
-
-
1Loss-
MKRN1-
-
-
-
1Loss-
MLLT11-
-
-
-
4Gain-
MLLT6-
-
-
-
3Gain-
MLNR-
-
-
-
1Loss-
MLPHp.S117P
Missense
SNP
0.490
2--
MLST8-
-
-
-
3Gain-
MLXIPL-
-
-
-
1Loss-
MMD2-
-
-
-
3Gain-
MMP10p.P266Lfs*36
Frame_Shift_Del
DEL
0.385
2--
MMP28-
-
-
-
3Gain-
MN1p.P45Lfs*8
Frame_Shift_Del
DEL
0.430
2--
MNDA-
-
-
-
4Gain-
MNT-
-
-
-
1Loss-
MNX1-
-
-
-
1Loss-
MOCOS.
Frame_Shift_Del
DEL
0.327
2--
MOGAT3-
-
-
-
1Loss-
MORN2-
-
-
-
1Loss-
MOSPD3-
-
-
-
1Loss-
MPC2-
-
-
-
4Gain-
MPDU1-
-
-
-
1Loss-
MPG-
-
-
-
3Gain-
MPLKIP-
-
-
-
3Gain-
MPP6-
-
-
-
3Gain-
MPRIP-
-
-
-
1Loss-
MPV17-
-
-
-
1Loss-
MPZ-
-
-
-
4Gain-
MPZL1-
-
-
-
4Gain-
MR1-
-
-
-
4Gain-
MRM1-
-
-
-
3Gain-
MRM2-
-
-
-
3Gain-
MRM3-
-
-
-
1Loss-
MROp.F184Ifs*7
Frame_Shift_Ins
INS
0.315
2--
MROH9-
-
-
-
4Gain-
MRPL24-
-
-
-
4Gain-
MRPL28-
-
-
-
3Gain-
MRPL32-
-
-
-
3Gain-
MRPL33-
-
-
-
1Loss-
MRPL38p.R346W
Missense
SNP
0.556
2--
MRPL45-
-
-
-
3Gain-
MRPL55-
-
-
-
4Gain-
MRPL9-
-
-
-
4Gain-
MRPS14-
-
-
-
4Gain-
MRPS17-
-
-
-
3Gain-
MRPS21-
-
-
-
4Gain-
MRPS24-
-
-
-
3Gain-
MRPS31-
-
-
-
1Loss-
MRPS33-
-
-
-
1Loss-
MRPS34-
-
-
-
3Gain-
MRPS5p.G113Efs*14
Frame_Shift_Del
DEL
0.111
2--
MSH2-
-
-
-
1Loss-
MSH6-
-
-
-
1Loss-
MSL1-
-
-
-
3Gain-
MSLN-
-
-
-
3Gain-
MSRB1-
-
-
-
3Gain-
MSTO1-
-
-
-
4Gain-
MT1HL1-
-
-
-
4Gain-
MTA3-
-
-
-
1Loss-
MTERF1-
-
-
-
1Loss-
MTMR11-
-
-
-
4Gain-
MTPN-
-
-
-
1Loss-
MTR-
-
-
-
4Gain-
MTRF1-
-
-
-
1Loss-
MTURN-
-
-
-
3Gain-
MTX1-
-
-
-
4Gain-
MUC1-
-
-
-
4Gain-
MUC12-
-
-
-
1Loss-
MUC17-
-
-
-
1Loss-
MUC3Ap.P423Lfs*7
Frame_Shift_Del
DEL
0.788
1Loss-
MUC5Bp.S2205Afs*29
Frame_Shift_Del
DEL
0.392
2--
MUC6p.W5R
Missense
SNP
0.488
2--
MYBBP1A-
-
-
-
1Loss-
MYBL1p.G466D
Missense
SNP
0.539
2--
MYBPH-
-
-
-
4Gain-
MYH1-
-
-
-
1Loss-
MYH10p.R289C
Missense
SNP
1.000
1Loss-
MYH13-
-
-
-
1Loss-
MYH14p.R1024W
p.P2035T
Missense
Missense
SNP
SNP
0.545
0.624
2--
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH8-
-
-
-
1Loss-
MYL10-
-
-
-
1Loss-
MYL7-
-
-
-
3Gain-
MYO15A-
-
-
-
1Loss-
MYO18A-
-
-
-
3Gain-
MYO19-
-
-
-
3Gain-
MYO1C-
-
-
-
1Loss-
MYO1D-
-
-
-
3Gain-
MYO1G-
-
-
-
3Gain-
MYO6p.I327Lfs*14
Frame_Shift_Del
DEL
0.429
2--
MYO7Ap.H133Tfs*13
p.R1047C
Frame_Shift_Del
Missense
DEL
SNP
0.380
0.520
2--
MYOC-
-
-
-
4Gain-
MYOCD-
-
-
-
1Loss-
MYOCOS-
-
-
-
4Gain-
MYOG-
-
-
-
4Gain-
NAA16-
-
-
-
1Loss-
NAA38-
-
-
-
1Loss-
NACAD-
-
-
-
3Gain-
NAMPT-
-
-
-
1Loss-
NAPEPLD-
-
-
-
1Loss-
NARFLp.R33Gfs*36
Frame_Shift_Del
DEL
0.345
NDND-
NAT16-
-
-
-
1Loss-
NATD1-
-
-
-
1Loss-
NAV1-
-
-
-
4Gain-
NAXE-
-
-
-
4Gain-
NBEAL2p.T422Pfs*50
Frame_Shift_Del
DEL
0.510
2--
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
5Amp-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
3Gain-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
3Gain-
NBPF9-
-
-
-
3Gain-
NCAPD3p.A322Lfs*24
Frame_Shift_Del
DEL
0.263
2--
NCAPG2-
-
-
-
1Loss-
NCBP3-
-
-
-
1Loss-
NCF1-
-
-
-
1Loss-
NCF2-
-
-
-
4Gain-
NCLp.R597W
p.A363V
Missense
Missense
SNP
SNP
0.455
0.516
2--
NCOA1-
-
-
-
1Loss-
NCOR1-
-
-
-
1Loss-
NCSTN-
-
-
-
4Gain-
NDEL1-
-
-
-
1Loss-
NDST3p.R709*
Nonsense
SNP
0.554
2--
NDUFA4-
-
-
-
3Gain-
NDUFA5-
-
-
-
1Loss-
NDUFAF7-
-
-
-
1Loss-
NDUFB10-
-
-
-
3Gain-
NDUFB2-
-
-
-
1Loss-
NDUFC2p.F69Lfs*7
Frame_Shift_Del
DEL
0.360
2--
NDUFS2-
-
-
-
4Gain-
NECTIN4p.A31V
Missense
SNP
0.252
4Gain-
NEGR1p.A326T
Missense
SNP
0.397
2--
NEK2-
-
-
-
4Gain-
NEK7-
-
-
-
4Gain-
NEK8-
-
-
-
3Gain-
NELFCDp.G264Afs*27
Frame_Shift_Del
DEL
0.485
2--
NENF-
-
-
-
4Gain-
NEO1p.V587D
Missense
SNP
0.517
2--
NES-
-
-
-
4Gain-
NET1p.R69C
Missense
SNP
0.343
2--
NEU4-
-
-
-
3Gain-
NEURL4-
-
-
-
1Loss-
NEUROD2-
-
-
-
3Gain-
NEUROD6-
-
-
-
3Gain-
NF1p.V723Wfs*25
p.R2486M
Frame_Shift_Del
Missense
DEL
SNP
0.320
0.407
3Gain-
NFASC-
-
-
-
4Gain-
NFATC2p.V390L
Missense
SNP
0.515
2--
NFE2L3-
-
-
-
3Gain-
NFKBIBp.K187N
Missense
SNP
0.535
2--
NFKBIL1p.R123C
Missense
SNP
0.545
2--
NGFRp.P85Q
Missense
SNP
0.476
2--
NHLH1-
-
-
-
4Gain-
NHLRC4-
-
-
-
3Gain-
NID1-
-
-
-
4Gain-
NID2p.A1213T
Missense
SNP
0.491
2--
NIPSNAP2-
-
-
-
3Gain-
NIT1-
-
-
-
4Gain-
NKIRAS2-
-
-
-
3Gain-
NLE1-
-
-
-
3Gain-
NLGN2-
-
-
-
1Loss-
NLKp.F192Lfs*30
Frame_Shift_Del
DEL
0.588
3Gain-
NLNp.I65V
Missense
SNP
0.301
2--
NLRC4-
-
-
-
1Loss-
NLRP1-
-
-
-
1Loss-
NLRP3-
-
-
-
4Gain-
NME3-
-
-
-
3Gain-
NME4-
-
-
-
3Gain-
NME7-
-
-
-
4Gain-
NME8-
-
-
-
3Gain-
NMNAT2-
-
-
-
4Gain-
NOBOX-
-
-
-
1Loss-
NOD1-
-
-
-
3Gain-
NOD2p.D529Y
Missense
SNP
0.430
2--
NOL4p.V91I
Missense
SNP
0.391
2--
NOL6p.E657D
Missense
SNP
0.524
2--
NOM1-
-
-
-
1Loss-
NOS1AP-
-
-
-
4Gain-
NOS2-
-
-
-
3Gain-
NOS3-
-
-
-
1Loss-
NOSIPp.X59_splice
Splice_Site
SNP
0.350
2--
NOTCH1p.R2327W
Missense
SNP
0.485
2--
NOTCH2NLA-
-
-
-
3Gain-
NOVA2p.A232T
Missense
SNP
0.530
2--
NOXO1-
-
-
-
3Gain-
NPAP1p.S331T
Missense
SNP
0.444
2--
NPAS4p.V187M
Missense
SNP
0.508
2--
NPC1L1-
-
-
-
3Gain-
NPHS2-
-
-
-
4Gain-
NPL-
-
-
-
4Gain-
NPR1-
-
-
-
4Gain-
NPRL3-
-
-
-
3Gain-
NPSR1-
-
-
-
3Gain-
NPTX2-
-
-
-
1Loss-
NPVF-
-
-
-
3Gain-
NPW-
-
-
-
3Gain-
NPY-
-
-
-
3Gain-
NR1D1-
-
-
-
3Gain-
NR1I3-
-
-
-
4Gain-
NR5A2-
-
-
-
4Gain-
NRBP1-
-
-
-
1Loss-
NRCAM-
-
-
-
1Loss-
NRF1-
-
-
-
1Loss-
NRXN1-
-
-
-
1Loss-
NSL1-
-
-
-
4Gain-
NSRP1-
-
-
-
3Gain-
NSUN5-
-
-
-
1Loss-
NT5C3A-
-
-
-
3Gain-
NT5C3Bp.R55Q
Missense
SNP
0.367
3Gain-
NT5DC3p.P243H
Missense
SNP
0.455
2--
NT5Ep.K433del
In_Frame_Del
DEL
0.432
2--
NT5M-
-
-
-
1Loss-
NTHL1-
-
-
-
3Gain-
NTN1-
-
-
-
1Loss-
NTN3-
-
-
-
3Gain-
NTPCR-
-
-
-
4Gain-
NTRK1-
-
-
-
4Gain-
NUAK2p.S417L
Missense
SNP
0.248
4Gain-
NUB1-
-
-
-
1Loss-
NUBP2-
-
-
-
3Gain-
NUCKS1-
-
-
-
4Gain-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUDT15-
-
-
-
1Loss-
NUDT17-
-
-
-
3Gain-
NUDT4B-
-
-
-
3Gain-
NUF2-
-
-
-
4Gain-
NUFIP1-
-
-
-
1Loss-
NUFIP2-
-
-
-
3Gain-
NUP133-
-
-
-
4Gain-
NUP205-
-
-
-
1Loss-
NUP210L-
-
-
-
4Gain-
NUP214p.V228Sfs*29
Frame_Shift_Del
DEL
0.529
2--
NUP88-
-
-
-
1Loss-
NUPL2-
-
-
-
3Gain-
NUPR2-
-
-
-
3Gain-
NVL-
-
-
-
4Gain-
NXN-
-
-
-
1Loss-
NXPH1-
-
-
-
3Gain-
NYAP1-
-
-
-
1Loss-
NYNRINp.P1154T
Missense
SNP
0.464
2--
OAZ3-
-
-
-
4Gain-
OBSCN-
-
-
-
4Gain-
OBSL1p.R1528H
Missense
SNP
0.536
2--
OCLM-
-
-
-
4Gain-
OCM-
-
-
-
3Gain-
OCM2-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
ODR4-
-
-
-
4Gain-
OGDH-
-
-
-
3Gain-
OLFM4p.A291V
Missense
SNP
0.421
2--
OLFML2B-
-
-
-
4Gain-
OMG-
-
-
-
3Gain-
OPN1SW-
-
-
-
1Loss-
OPN3-
-
-
-
4Gain-
OPTC-
-
-
-
4Gain-
OR10J1-
-
-
-
4Gain-
OR10J3-
-
-
-
4Gain-
OR10J5-
-
-
-
4Gain-
OR10K1-
-
-
-
4Gain-
OR10K2-
-
-
-
4Gain-
OR10R2-
-
-
-
4Gain-
OR10T2-
-
-
-
4Gain-
OR10X1-
-
-
-
4Gain-
OR10Z1-
-
-
-
4Gain-
OR11L1-
-
-
-
4Gain-
OR13G1-
-
-
-
4Gain-
OR14A16-
-
-
-
4Gain-
OR14C36-
-
-
-
4Gain-
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1C1-
-
-
-
4Gain-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1G1-
-
-
-
1Loss-
OR2A1-
-
-
-
1Loss-
OR2A12-
-
-
-
1Loss-
OR2A14-
-
-
-
1Loss-
OR2A2-
-
-
-
1Loss-
OR2A25-
-
-
-
1Loss-
OR2A42-
-
-
-
1Loss-
OR2A5-
-
-
-
1Loss-
OR2A7-
-
-
-
1Loss-
OR2AE1-
-
-
-
1Loss-
OR2AG2p.L68Hfs*41
Frame_Shift_Del
DEL
0.491
2--
OR2AK2-
-
-
-
4Gain-
OR2B11-
-
-
-
4Gain-
OR2C3-
-
-
-
4Gain-
OR2F1-
-
-
-
1Loss-
OR2F2-
-
-
-
1Loss-
OR2G2-
-
-
-
4Gain-
OR2G3-
-
-
-
4Gain-
OR2G6-
-
-
-
4Gain-
OR2L13-
-
-
-
4Gain-
OR2L2-
-
-
-
4Gain-
OR2L3-
-
-
-
4Gain-
OR2L5-
-
-
-
4Gain-
OR2L8-
-
-
-
4Gain-
OR2M2-
-
-
-
4Gain-
OR2M3-
-
-
-
4Gain-
OR2M4-
-
-
-
4Gain-
OR2M5-
-
-
-
4Gain-
OR2M7-
-
-
-
4Gain-
OR2T1-
-
-
-
4Gain-
OR2T10-
-
-
-
4Gain-
OR2T11-
-
-
-
4Gain-
OR2T12-
-
-
-
4Gain-
OR2T2-
-
-
-
4Gain-
OR2T27-
-
-
-
4Gain-
OR2T29-
-
-
-
4Gain-
OR2T3-
-
-
-
4Gain-
OR2T33-
-
-
-
4Gain-
OR2T34-
-
-
-
4Gain-
OR2T35-
-
-
-
4Gain-
OR2T4-
-
-
-
4Gain-
OR2T5-
-
-
-
4Gain-
OR2T6-
-
-
-
4Gain-
OR2T8-
-
-
-
4Gain-
OR2W3-
-
-
-
4Gain-
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR51V1p.V280Wfs*16
Frame_Shift_Del
DEL
0.446
2--
OR6B1-
-
-
-
1Loss-
OR6F1-
-
-
-
4Gain-
OR6K2-
-
-
-
4Gain-
OR6K3-
-
-
-
4Gain-
OR6K6-
-
-
-
4Gain-
OR6N1-
-
-
-
4Gain-
OR6N2-
-
-
-
4Gain-
OR6P1p.F32Lfs*6
Frame_Shift_Del
DEL
0.235
4Gain-
OR6V1-
-
-
-
1Loss-
OR6Y1-
-
-
-
4Gain-
OR8B4p.V214I
Missense
SNP
0.142
2--
OR8H1p.V104Cfs*7
Frame_Shift_Ins
INS
0.268
2--
OR9A2-
-
-
-
1Loss-
OR9A4-
-
-
-
1Loss-
ORAI2-
-
-
-
1Loss-
ORC5-
-
-
-
1Loss-
ORMDL3-
-
-
-
3Gain-
OSBPL3-
-
-
-
3Gain-
OST4-
-
-
-
1Loss-
OTOF-
-
-
-
1Loss-
OTUD7B-
-
-
-
4Gain-
OTX1p.A325T
Missense
SNP
0.498
2--
OVCA2-
-
-
-
1Loss-
OXER1-
-
-
-
1Loss-
P2RX1-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P3H4-
-
-
-
3Gain-
P4HTMp.L416Cfs*6
Frame_Shift_Del
DEL
0.438
2--
PAFAH1B1-
-
-
-
1Loss-
PAPOLB-
-
-
-
3Gain-
PAPPA2-
-
-
-
4Gain-
PAQR6-
-
-
-
4Gain-
PARP1-
-
-
-
4Gain-
PARP12-
-
-
-
1Loss-
PAX4-
-
-
-
1Loss-
PAX6p.P389Hfs*7
Frame_Shift_Del
DEL
0.480
2--
PAXIP1-
-
-
-
1Loss-
PBX1-
-
-
-
4Gain-
PBXIP1-
-
-
-
4Gain-
PCARE-
-
-
-
1Loss-
PCDHA10-
-
-
-
3Gain-
PCDHA11-
-
-
-
3Gain-
PCDHA12p.L95M
Missense
SNP
0.478
3Gain-
PCDHA13-
-
-
-
3Gain-
PCDHA2-
-
-
-
3Gain-
PCDHA3p.R538C
Missense
SNP
0.477
3Gain-
PCDHA4-
-
-
-
3Gain-
PCDHA5-
-
-
-
3Gain-
PCDHA6-
-
-
-
3Gain-
PCDHA7-
-
-
-
3Gain-
PCDHA8-
-
-
-
3Gain-
PCDHA9p.I142T
Missense
SNP
0.417
3Gain-
PCDHB11p.A533T
Missense
SNP
0.421
2--
PCDHB7p.A484T
Missense
SNP
0.503
2--
PCDHGA10p.Q34*
Nonsense
SNP
0.500
2--
PCDHGA12p.R717W
Missense
SNP
0.495
2--
PCDHGA3p.T735M
Missense
SNP
0.475
2--
PCED1Ap.A183V
Missense
SNP
0.173
2--
PCGF2-
-
-
-
3Gain-
PCLO-
-
-
-
1Loss-
PCM1p.K787Nfs*31
Frame_Shift_Del
DEL
0.522
2--
PCNX2-
-
-
-
4Gain-
PCOLCE-
-
-
-
1Loss-
PCP4L1-
-
-
-
4Gain-
PDAP1-
-
-
-
1Loss-
PDC-
-
-
-
4Gain-
PDCD1-
-
-
-
3Gain-
PDE1C-
-
-
-
3Gain-
PDE4DIP-
-
-
-
3Gain-
PDE6Cp.P501T
Missense
SNP
0.500
2--
PDGFA-
-
-
-
3Gain-
PDIA2-
-
-
-
3Gain-
PDIA4-
-
-
-
1Loss-
PDK4-
-
-
-
1Loss-
PDZD8p.I1116*
Frame_Shift_Del
DEL
0.164
2--
PDZK1-
-
-
-
3Gain-
PDZRN3p.T212A
Missense
SNP
0.460
2--
PEA15-
-
-
-
4Gain-
PEAR1-
-
-
-
4Gain-
PEG10-
-
-
-
1Loss-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PENKp.P90L
Missense
SNP
0.480
2--
PER1-
-
-
-
1Loss-
PEX1-
-
-
-
1Loss-
PEX11B-
-
-
-
3Gain-
PEX12-
-
-
-
3Gain-
PEX19-
-
-
-
4Gain-
PFAS-
-
-
-
1Loss-
PFDN2-
-
-
-
4Gain-
PFKFB2-
-
-
-
4Gain-
PFN1-
-
-
-
1Loss-
PGAM2-
-
-
-
3Gain-
PGAP2p.A258V
Missense
SNP
0.457
2--
PGAP3-
-
-
-
3Gain-
PGBD2-
-
-
-
4Gain-
PGBD5-
-
-
-
4Gain-
PGLYRP3-
-
-
-
4Gain-
PGLYRP4-
-
-
-
4Gain-
PGP-
-
-
-
3Gain-
PHF11-
-
-
-
1Loss-
PHF12-
-
-
-
3Gain-
PHF14-
-
-
-
3Gain-
PHF23-
-
-
-
1Loss-
PHKG1-
-
-
-
3Gain-
PHLDA3-
-
-
-
4Gain-
PHTF2-
-
-
-
1Loss-
PI4K2Bp.S479Pfs*40
Frame_Shift_Del
DEL
0.380
2--
PI4KB-
-
-
-
4Gain-
PIAS3-
-
-
-
3Gain-
PIGC-
-
-
-
4Gain-
PIGF-
-
-
-
1Loss-
PIGL-
-
-
-
1Loss-
PIGM-
-
-
-
4Gain-
PIGQ-
-
-
-
3Gain-
PIGR-
-
-
-
4Gain-
PIGS-
-
-
-
3Gain-
PIGTp.V538M
Missense
SNP
0.466
2--
PIGW-
-
-
-
3Gain-
PIK3C2B-
-
-
-
4Gain-
PIK3CG-
-
-
-
1Loss-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PILRA-
-
-
-
1Loss-
PILRB-
-
-
-
1Loss-
PIM2p.R55Q
Missense
SNP
0.170
NDND-
PIMREG-
-
-
-
1Loss-
PINK1p.G189R
Missense
SNP
0.056
2--
PIP-
-
-
-
1Loss-
PIP4K2B-
-
-
-
3Gain-
PIP4K2Cp.R204H
Missense
SNP
0.493
2--
PIP5K1A-
-
-
-
4Gain-
PIPOX-
-
-
-
3Gain-
PIRT-
-
-
-
1Loss-
PITPNA-
-
-
-
1Loss-
PITPNM3-
-
-
-
1Loss-
PKD1p.Q3436*
Nonsense
SNP
0.296
3Gain-
PKD1L1-
-
-
-
3Gain-
PKD1L2p.P140T
Missense
SNP
0.509
2--
PKDCC-
-
-
-
1Loss-
PKHD1p.V155A
Missense
SNP
0.458
2--
PKIBp.T10A
Missense
SNP
0.472
2--
PKLR-
-
-
-
4Gain-
PKNOX1-
-
-
-
1Loss-
PKP1-
-
-
-
4Gain-
PLA2G4A-
-
-
-
4Gain-
PLA2G6p.X266_splice
Splice_Site
SNP
0.528
2--
PLAGL1p.N79Kfs*16
Frame_Shift_Ins
INS
0.320
2--
PLB1-
-
-
-
1Loss-
PLCB3p.R79H
Missense
SNP
0.549
2--
PLCH1p.Q1075H
Missense
SNP
0.179
2--
PLD2-
-
-
-
1Loss-
PLD5-
-
-
-
4Gain-
PLD6-
-
-
-
1Loss-
PLEKHA6-
-
-
-
4Gain-
PLEKHA8-
-
-
-
3Gain-
PLEKHG6p.R120W
Missense
SNP
0.512
2--
PLEKHH2-
-
-
-
1Loss-
PLEKHO1p.R341Q
Missense
SNP
0.727
4Gain-
PLOD3-
-
-
-
1Loss-
PLSCR3-
-
-
-
1Loss-
PLXDC1-
-
-
-
3Gain-
PLXNA2-
-
-
-
4Gain-
PLXNA4-
-
-
-
1Loss-
PLXNC1p.R850Q
Missense
SNP
0.426
2--
PM20D1p.P354Qfs*21
Frame_Shift_Del
DEL
0.238
4Gain-
PMF1-
-
-
-
4Gain-
PMF1-BGLAP-
-
-
-
4Gain-
PMP22-
-
-
-
1Loss-
PMPCB-
-
-
-
1Loss-
PMS2-
-
-
-
3Gain-
PMVK-
-
-
-
4Gain-
PNMT-
-
-
-
3Gain-
PNPLA1p.A231T
Missense
SNP
0.461
2--
PNPLA6p.R325Q
Missense
SNP
0.443
2--
PNPLA8-
-
-
-
1Loss-
PODXL-
-
-
-
1Loss-
POGK-
-
-
-
4Gain-
POGZ-
-
-
-
4Gain-
POLD2-
-
-
-
3Gain-
POLDIP2-
-
-
-
3Gain-
POLM-
-
-
-
3Gain-
POLQp.F720Sfs*7
Frame_Shift_Del
DEL
0.556
2--
POLR2A-
-
-
-
1Loss-
POLR2J-
-
-
-
1Loss-
POLR2J2-
-
-
-
1Loss-
POLR2J3-
-
-
-
1Loss-
POLR3C-
-
-
-
3Gain-
POLR3GL-
-
-
-
3Gain-
POLR3K-
-
-
-
3Gain-
POM121-
-
-
-
1Loss-
POM121C-
-
-
-
1Loss-
POM121L12-
-
-
-
3Gain-
POMC-
-
-
-
1Loss-
POMZP3-
-
-
-
1Loss-
PON1-
-
-
-
1Loss-
PON2-
-
-
-
1Loss-
PON3-
-
-
-
1Loss-
POP7-
-
-
-
1Loss-
POR-
-
-
-
1Loss-
POT1-
-
-
-
1Loss-
POTEB3p.Q286R
Missense
SNP
0.206
2--
POTEFp.L253S
Missense
SNP
0.545
2--
POTEJp.T729_L730del
In_Frame_Del
DEL
0.435
2--
POU2F1-
-
-
-
4Gain-
POU4F1p.A131V
Missense
SNP
0.526
2--
POU6F2-
-
-
-
3Gain-
PP2D1p.A260T
Missense
SNP
0.549
2--
PPFIA4-
-
-
-
4Gain-
PPIA-
-
-
-
3Gain-
PPM1B-
-
-
-
1Loss-
PPM1Dp.L498I
Missense
SNP
0.421
2--
PPM1G-
-
-
-
1Loss-
PPOX-
-
-
-
4Gain-
PPP1CB-
-
-
-
1Loss-
PPP1R12Bp.L92S
Missense
SNP
0.695
4Gain-
PPP1R15B-
-
-
-
4Gain-
PPP1R16Bp.A366V
Missense
SNP
0.487
2--
PPP1R17-
-
-
-
3Gain-
PPP1R1B-
-
-
-
3Gain-
PPP1R21-
-
-
-
1Loss-
PPP1R35-
-
-
-
1Loss-
PPP1R3A-
-
-
-
1Loss-
PPP1R9A-
-
-
-
1Loss-
PPP2R5A-
-
-
-
4Gain-
PPP6R2p.P596L
Missense
SNP
0.495
2--
PRCC-
-
-
-
4Gain-
PRDM13p.A181T
Missense
SNP
0.460
2--
PRDX6-
-
-
-
4Gain-
PREB-
-
-
-
1Loss-
PRELP-
-
-
-
4Gain-
PREPL-
-
-
-
1Loss-
PRG4-
-
-
-
4Gain-
PRICKLE2p.W215*
Nonsense
SNP
0.537
2--
PRIMA1p.H34Y
Missense
SNP
0.564
2--
PRKAB2-
-
-
-
5Amp-
PRKAG2-
-
-
-
1Loss-
PRKAG3p.L258Wfs*112
Frame_Shift_Del
DEL
0.476
2--
PRKAR1B-
-
-
-
3Gain-
PRKAR2B-
-
-
-
1Loss-
PRKCDp.D434Gfs*13
Frame_Shift_Ins
INS
0.319
2--
PRKCE-
-
-
-
1Loss-
PRKD3-
-
-
-
1Loss-
PRKDCp.R2704Gfs*13
Frame_Shift_Del
DEL
0.605
2--
PRKRIP1-
-
-
-
1Loss-
PROCA1-
-
-
-
3Gain-
PROX1-
-
-
-
4Gain-
PRPF3-
-
-
-
4Gain-
PRPF8-
-
-
-
1Loss-
PRPS1L1-
-
-
-
3Gain-
PRPSAP2-
-
-
-
1Loss-
PRR12p.Q800Sfs*100
Frame_Shift_Del
DEL
0.416
2--
PRR14Lp.P1004S
Missense
SNP
0.526
2--
PRR15-
-
-
-
3Gain-
PRR19p.G75Vfs*7
Frame_Shift_Del
DEL
0.511
2--
PRR23D1-
-
-
-
1Loss-
PRR30-
-
-
-
1Loss-
PRR35-
-
-
-
3Gain-
PRR9-
-
-
-
4Gain-
PRRC2Ap.S2020Afs*36
p.Q694H
Frame_Shift_Del
Missense
DEL
SNP
0.440
0.520
2--
PRRC2C-
-
-
-
4Gain-
PRRT4-
-
-
-
1Loss-
PRRX1p.R95Q
Missense
SNP
0.207
4Gain-
PRSS1-
-
-
-
1Loss-
PRSS2-
-
-
-
1Loss-
PRSS37-
-
-
-
1Loss-
PRSS38-
-
-
-
4Gain-
PRSS58-
-
-
-
1Loss-
PRUNE1-
-
-
-
4Gain-
PSD3p.K957del
In_Frame_Del
DEL
0.364
2--
PSD4p.R863C
Missense
SNP
0.447
2--
PSEN2-
-
-
-
4Gain-
PSMA2-
-
-
-
3Gain-
PSMB3-
-
-
-
3Gain-
PSMB4-
-
-
-
4Gain-
PSMB6-
-
-
-
1Loss-
PSMC2-
-
-
-
1Loss-
PSMD11-
-
-
-
3Gain-
PSMD3-
-
-
-
3Gain-
PSMD4-
-
-
-
4Gain-
PSMG3-
-
-
-
3Gain-
PSPH-
-
-
-
3Gain-
PTCD1-
-
-
-
1Loss-
PTGS2-
-
-
-
4Gain-
PTN-
-
-
-
1Loss-
PTPN12-
-
-
-
1Loss-
PTPN14-
-
-
-
4Gain-
PTPN4p.P452L
p.V848I
Missense
Missense
SNP
SNP
0.387
0.496
2--
PTPN7-
-
-
-
4Gain-
PTPRC-
-
-
-
4Gain-
PTPRN2-
-
-
-
1Loss-
PTPRZ1-
-
-
-
1Loss-
PTRHD1-
-
-
-
1Loss-
PTX4-
-
-
-
3Gain-
PURB-
-
-
-
3Gain-
PUS7-
-
-
-
1Loss-
PVRIG-
-
-
-
1Loss-
PYCR2-
-
-
-
4Gain-
PYGO2-
-
-
-
4Gain-
PYHIN1-
-
-
-
4Gain-
PYROXD2p.R218*
Nonsense
SNP
0.370
2--
QPCT-
-
-
-
1Loss-
QSOX1-
-
-
-
4Gain-
RAB10-
-
-
-
1Loss-
RAB11FIP3p.D602N
Missense
SNP
0.303
3Gain-
RAB11FIP4-
-
-
-
3Gain-
RAB13-
-
-
-
4Gain-
RAB19-
-
-
-
1Loss-
RAB25-
-
-
-
4Gain-
RAB26-
-
-
-
3Gain-
RAB29-
-
-
-
4Gain-
RAB34-
-
-
-
3Gain-
RAB3GAP2-
-
-
-
4Gain-
RAB40Cp.Q271Rfs*58
Frame_Shift_Del
DEL
0.254
3Gain-
RAB44p.K1011Rfs*19
Frame_Shift_Del
DEL
0.531
2--
RAB4A-
-
-
-
4Gain-
RAB5C-
-
-
-
3Gain-
RABEP1-
-
-
-
1Loss-
RABGAP1L-
-
-
-
4Gain-
RABGEF1-
-
-
-
1Loss-
RABIF-
-
-
-
4Gain-
RAC1-
-
-
-
3Gain-
RAD51D-
-
-
-
3Gain-
RAD51L3-RFFL-
-
-
-
3Gain-
RADILp.T31M
Missense
SNP
0.725
3Gain-
RAI1-
-
-
-
1Loss-
RALA-
-
-
-
3Gain-
RALGAPA1p.N1861Kfs*29
Frame_Shift_Ins
INS
0.313
2--
RALGPS2-
-
-
-
4Gain-
RAMP3-
-
-
-
3Gain-
RANGRF-
-
-
-
1Loss-
RAP1GAP2-
-
-
-
1Loss-
RAPGEF5-
-
-
-
3Gain-
RAPGEFL1-
-
-
-
3Gain-
RARA-
-
-
-
3Gain-
RARRES2-
-
-
-
1Loss-
RASA4-
-
-
-
1Loss-
RASA4B-
-
-
-
1Loss-
RASAL2-
-
-
-
4Gain-
RASD1-
-
-
-
1Loss-
RASGRP3-
-
-
-
1Loss-
RASL10B-
-
-
-
3Gain-
RASL12p.C158Afs*35
Frame_Shift_Del
DEL
0.490
2--
RASSF5-
-
-
-
4Gain-
RB1p.R255*
Nonsense
SNP
1.000
1Loss-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBBP5-
-
-
-
4Gain-
RBKS-
-
-
-
1Loss-
RBM12Bp.R502C
Missense
SNP
0.544
2--
RBM28-
-
-
-
1Loss-
RBM33-
-
-
-
1Loss-
RBM34-
-
-
-
4Gain-
RBM42p.P333Qfs*24
Frame_Shift_Del
DEL
0.413
2--
RBM48-
-
-
-
1Loss-
RBM8A-
-
-
-
3Gain-
RBPJLp.E115K
Missense
SNP
0.466
2--
RC3H1-
-
-
-
4Gain-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
RCC1L-
-
-
-
1Loss-
RCOR2p.P505H
Missense
SNP
0.493
2--
RCOR3-
-
-
-
4Gain-
RCSD1-
-
-
-
4Gain-
RCVRN-
-
-
-
1Loss-
RD3-
-
-
-
4Gain-
RDM1-
-
-
-
3Gain-
RDXp.P471Lfs*35
Frame_Shift_Del
DEL
0.438
2--
RELN-
-
-
-
1Loss-
REN-
-
-
-
4Gain-
RENBPp.G263C
Missense
SNP
0.939
NDND-
REPIN1-
-
-
-
1Loss-
RETp.S904F
Missense
SNP
0.433
2--
RFC2-
-
-
-
1Loss-
RFFL-
-
-
-
3Gain-
RFLNB-
-
-
-
1Loss-
RFX4p.R88C
Missense
SNP
0.514
2--
RFX5-
-
-
-
4Gain-
RGCC-
-
-
-
1Loss-
RGL1-
-
-
-
4Gain-
RGS1-
-
-
-
4Gain-
RGS11p.L378Wfs*23
p.G256S
Frame_Shift_Del
Missense
DEL
SNP
0.296
0.289
3Gain-
RGS12p.A296S
Missense
SNP
0.478
2--
RGS13-
-
-
-
4Gain-
RGS16-
-
-
-
4Gain-
RGS18-
-
-
-
4Gain-
RGS2-
-
-
-
4Gain-
RGS21-
-
-
-
4Gain-
RGS22p.A640T
Missense
SNP
0.622
2--
RGS4-
-
-
-
4Gain-
RGS5-
-
-
-
4Gain-
RGS7-
-
-
-
4Gain-
RGS8-
-
-
-
4Gain-
RGSL1-
-
-
-
4Gain-
RHBDD2-
-
-
-
1Loss-
RHBDF1-
-
-
-
3Gain-
RHBDL1-
-
-
-
3Gain-
RHBDL3-
-
-
-
3Gain-
RHBG-
-
-
-
4Gain-
RHEB-
-
-
-
1Loss-
RHEX-
-
-
-
4Gain-
RHOQ-
-
-
-
1Loss-
RHOT1-
-
-
-
3Gain-
RHOT2-
-
-
-
3Gain-
RHOU-
-
-
-
4Gain-
RIF1p.S472Pfs*34
Frame_Shift_Del
DEL
0.149
2--
RIIAD1-
-
-
-
4Gain-
RILP-
-
-
-
1Loss-
RINT1-
-
-
-
1Loss-
RIT1-
-
-
-
4Gain-
RMDN2-
-
-
-
1Loss-
RN7SKP48-
-
-
-
NDNDRN7SKP71--RN7SKP48
RN7SKP71-
-
-
-
NDNDRN7SKP71--RN7SKP48
RNASEH2Ap.V135I
Missense
SNP
0.433
2--
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RNASEL-
-
-
-
4Gain-
RNF103p.K670Sfs*27
Frame_Shift_Del
DEL
0.523
2--
RNF112-
-
-
-
1Loss-
RNF115-
-
-
-
3Gain-
RNF133-
-
-
-
1Loss-
RNF135-
-
-
-
3Gain-
RNF148-
-
-
-
1Loss-
RNF151-
-
-
-
3Gain-
RNF167-
-
-
-
1Loss-
RNF183p.P14H
Missense
SNP
0.559
2--
RNF187-
-
-
-
4Gain-
RNF2-
-
-
-
4Gain-
RNF213p.N360Kfs*37
Frame_Shift_Ins
INS
0.324
2--
RNF216-
-
-
-
3Gain-
RNF222-
-
-
-
1Loss-
RNF32-
-
-
-
1Loss-
RNF43p.R286W
Missense
SNP
0.103
2--
RNMTp.T394Hfs*19
Frame_Shift_Del
DEL
0.393
2--
RNPEP-
-
-
-
4Gain-
RNPS1-
-
-
-
3Gain-
ROBO3p.A122T
Missense
SNP
0.463
2--
ROCK1p.R630*
Nonsense
SNP
0.639
2--
ROPN1Lp.S193Y
Missense
SNP
0.361
2--
RORC-
-
-
-
4Gain-
RP11-360D2.1p.K108Sfs*2
Frame_Shift_Del
DEL
0.183
NDND-
RP11-382A20.3p.P64Hfs*25
Frame_Shift_Del
DEL
0.356
NDND-
RP11-407P15.2p.F163Lfs*9
Frame_Shift_Del
DEL
0.428
NDND-
RP9-
-
-
-
3Gain-
RPA1-
-
-
-
1Loss-
RPA3-
-
-
-
3Gain-
RPAIN-
-
-
-
1Loss-
RPH3AL-
-
-
-
1Loss-
RPL19-
-
-
-
3Gain-
RPL23-
-
-
-
3Gain-
RPL23A-
-
-
-
3Gain-
RPL26-
-
-
-
1Loss-
RPL3L-
-
-
-
3Gain-
RPRD2-
-
-
-
4Gain-
RPS2-
-
-
-
3Gain-
RPS27-
-
-
-
4Gain-
RPS6KC1-
-
-
-
4Gain-
RPTN-
-
-
-
4Gain-
RPTORp.T1206M
Missense
SNP
0.497
2--
RPUSD1-
-
-
-
3Gain-
RRNAD1-
-
-
-
4Gain-
RRP15-
-
-
-
4Gain-
RSBN1L-
-
-
-
1Loss-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RTN4RL1-
-
-
-
1Loss-
RTP5-
-
-
-
3Gain-
RUBCNL-
-
-
-
1Loss-
RUNDC3B-
-
-
-
1Loss-
RUSC1-
-
-
-
4Gain-
RXFP4-
-
-
-
4Gain-
RXRG-
-
-
-
4Gain-
RYBPp.Q246*
Nonsense
SNP
0.610
2--
RYR1p.R2084Q
Missense
SNP
0.505
2--
RYR2-
-
-
-
4Gain-
S100A1-
-
-
-
4Gain-
S100A10-
-
-
-
4Gain-
S100A11-
-
-
-
4Gain-
S100A12-
-
-
-
4Gain-
S100A13-
-
-
-
4Gain-
S100A14-
-
-
-
4Gain-
S100A16-
-
-
-
4Gain-
S100A2-
-
-
-
4Gain-
S100A3-
-
-
-
4Gain-
S100A4-
-
-
-
4Gain-
S100A5-
-
-
-
4Gain-
S100A6-
-
-
-
4Gain-
S100A7-
-
-
-
4Gain-
S100A7A-
-
-
-
4Gain-
S100A7L2-
-
-
-
4Gain-
S100A8-
-
-
-
4Gain-
S100A9-
-
-
-
4Gain-
SACSp.K1717Nfs*8
Frame_Shift_Del
DEL
0.200
2--
SAFBp.R668W
Missense
SNP
0.512
2--
SAFB2p.P945Rfs*49
Frame_Shift_Del
DEL
0.425
2--
SAMD4Ap.P596L
Missense
SNP
0.445
2--
SAMD9-
-
-
-
1Loss-
SAMD9L-
-
-
-
1Loss-
SAMM50p.R180W
Missense
SNP
0.507
2--
SAP25-
-
-
-
1Loss-
SARM1-
-
-
-
3Gain-
SAT2-
-
-
-
1Loss-
SBDS-
-
-
-
1Loss-
SBK2p.A317T
Missense
SNP
0.403
2--
SCAMP3-
-
-
-
4Gain-
SCAPp.R819C
Missense
SNP
0.516
2--
SCARF1-
-
-
-
1Loss-
SCCPDH-
-
-
-
4Gain-
SCFD1-
-
-
-
1Loss-
SCGB1C2-
-
-
-
1Loss-
SCIMP-
-
-
-
1Loss-
SCIN-
-
-
-
3Gain-
SCMH1p.R281W
Missense
SNP
0.452
2--
SCNM1-
-
-
-
4Gain-
SCO1-
-
-
-
1Loss-
SCRN1-
-
-
-
3Gain-
SCYL3-
-
-
-
4Gain-
SDCCAG8p.A372V
Missense
SNP
0.240
4Gain-
SDE2-
-
-
-
4Gain-
SDF2-
-
-
-
3Gain-
SDHAF3-
-
-
-
1Loss-
SDHC-
-
-
-
4Gain-
SDK1-
-
-
-
3Gain-
SDK2p.V1830M
Missense
SNP
0.453
2--
SEBOX-
-
-
-
3Gain-
SEC16B-
-
-
-
4Gain-
SEC24Bp.A1048V
Missense
SNP
0.557
2--
SEC61G-
-
-
-
3Gain-
SECISBP2p.E816Rfs*7
Frame_Shift_Ins
INS
0.292
2--
SELE-
-
-
-
4Gain-
SELENBP1-
-
-
-
4Gain-
SELENOI-
-
-
-
1Loss-
SELL-
-
-
-
4Gain-
SELP-
-
-
-
4Gain-
SEM1-
-
-
-
1Loss-
SEMA3A-
-
-
-
1Loss-
SEMA3C-
-
-
-
1Loss-
SEMA3D-
-
-
-
1Loss-
SEMA3E-
-
-
-
1Loss-
SEMA4A-
-
-
-
4Gain-
SEMA4Cp.P759Lfs*36
Frame_Shift_Del
DEL
0.497
2--
SEMA5Bp.R989H
Missense
SNP
0.528
2--
SEMA6C-
-
-
-
4Gain-
SENP1p.T424A
Missense
SNP
0.452
2--
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SEPT14-
-
-
-
3Gain-
SEPT7-
-
-
-
3Gain-
SEPT8p.A186T
Missense
SNP
0.514
2--
SERP2-
-
-
-
1Loss-
SERPINA1p.F277del
In_Frame_Del
DEL
0.503
2--
SERPINB2p.V42A
Missense
SNP
0.468
2--
SERPINC1-
-
-
-
4Gain-
SERPINE1-
-
-
-
1Loss-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERTAD4-
-
-
-
4Gain-
SERTM1p.L38Q
Missense
SNP
0.379
2--
SESTD1p.W74*
Nonsense
SNP
0.483
2--
SETD1Bp.H8Tfs*27
p.R1782W
Frame_Shift_Del
Missense
DEL
SNP
0.879
0.461
2--
SETD3p.A581V
Missense
SNP
0.450
2--
SETD5p.R1176*
Nonsense
SNP
0.479
2--
SETDB1-
-
-
-
4Gain-
SETDB2-
-
-
-
1Loss-
SETXp.R778Q
Missense
SNP
0.475
2--
SEZ6-
-
-
-
3Gain-
SEZ6Lp.A9T
Missense
SNP
0.529
2--
SF3B4-
-
-
-
4Gain-
SFRP4-
-
-
-
3Gain-
SFRP5p.G9Afs*77
Frame_Shift_Del
DEL
0.411
2--
SFT2D2-
-
-
-
4Gain-
SGCE-
-
-
-
1Loss-
SGCGp.R79H
Missense
SNP
0.529
2--
SGIP1p.G474V
Missense
SNP
0.487
2--
SGK494-
-
-
-
3Gain-
SGO1p.M325Cfs*28
Frame_Shift_Del
DEL
0.288
2--
SGSM2-
-
-
-
1Loss-
SH2B2-
-
-
-
1Loss-
SH2D1B-
-
-
-
4Gain-
SH2D2A-
-
-
-
4Gain-
SH3BP5Lp.R139W
Missense
SNP
0.737
4Gain-
SHBG-
-
-
-
1Loss-
SHC1-
-
-
-
4Gain-
SHC3p.A246V
Missense
SNP
0.435
2--
SHCBP1L-
-
-
-
4Gain-
SHE-
-
-
-
4Gain-
SHH-
-
-
-
1Loss-
SHISA4p.R116H
Missense
SNP
0.224
4Gain-
SHISA6-
-
-
-
1Loss-
SHMT1-
-
-
-
1Loss-
SHPK-
-
-
-
1Loss-
SHROOM1p.P113L
Missense
SNP
0.468
2--
SIAH3-
-
-
-
1Loss-
SIGLEC12p.T303M
Missense
SNP
0.488
2--
SIK1-
-
-
-
1Loss-
SIK1B-
-
-
-
1Loss-
SIPA1L2-
-
-
-
4Gain-
SIPA1L3p.R169H
Missense
SNP
0.442
2--
SIRT6p.G69R
Missense
SNP
0.202
2--
SIX2-
-
-
-
1Loss-
SIX3-
-
-
-
1Loss-
SIX6p.R123H
Missense
SNP
0.436
2--
SKAP2-
-
-
-
3Gain-
SKIDA1p.E597D
Missense
SNP
0.438
2--
SLAMF1p.S277Afs*54
Frame_Shift_Del
DEL
0.171
4Gain-
SLAMF6-
-
-
-
4Gain-
SLAMF7-
-
-
-
4Gain-
SLAMF8-
-
-
-
4Gain-
SLAMF9-
-
-
-
4Gain-
SLC12A9-
-
-
-
1Loss-
SLC13A1-
-
-
-
1Loss-
SLC13A2-
-
-
-
3Gain-
SLC13A4-
-
-
-
1Loss-
SLC13A5-
-
-
-
1Loss-
SLC16A11-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC18A2p.V417I
Missense
SNP
0.510
2--
SLC19A2-
-
-
-
4Gain-
SLC22A6p.R192W
Missense
SNP
0.542
2--
SLC25A11-
-
-
-
1Loss-
SLC25A13-
-
-
-
1Loss-
SLC25A15-
-
-
-
1Loss-
SLC25A30-
-
-
-
1Loss-
SLC25A35-
-
-
-
1Loss-
SLC25A40-
-
-
-
1Loss-
SLC25A44-
-
-
-
4Gain-
SLC26A3-
-
-
-
1Loss-
SLC26A4-
-
-
-
1Loss-
SLC26A5-
-
-
-
1Loss-
SLC26A9p.R578S
Missense
SNP
0.763
4Gain-
SLC27A3-
-
-
-
4Gain-
SLC29A4-
-
-
-
3Gain-
SLC2A4-
-
-
-
1Loss-
SLC30A1-
-
-
-
4Gain-
SLC30A10-
-
-
-
4Gain-
SLC30A3-
-
-
-
1Loss-
SLC30A4p.V283A
Missense
SNP
0.491
2--
SLC30A6-
-
-
-
1Loss-
SLC35B4-
-
-
-
1Loss-
SLC35C1p.P349L
Missense
SNP
0.217
2--
SLC35F3-
-
-
-
4Gain-
SLC35F6-
-
-
-
1Loss-
SLC35G3-
-
-
-
3Gain-
SLC35G6-
-
-
-
1Loss-
SLC37A3-
-
-
-
1Loss-
SLC38A8p.T427M
Missense
SNP
0.490
2--
SLC39A1-
-
-
-
4Gain-
SLC3A1-
-
-
-
1Loss-
SLC41A1-
-
-
-
4Gain-
SLC43A2-
-
-
-
1Loss-
SLC44A3p.S77Y
Missense
SNP
0.478
2--
SLC45A3-
-
-
-
4Gain-
SLC46A1-
-
-
-
3Gain-
SLC47A1-
-
-
-
1Loss-
SLC47A2-
-
-
-
1Loss-
SLC4A1AP-
-
-
-
1Loss-
SLC4A2-
-
-
-
1Loss-
SLC50A1-
-
-
-
4Gain-
SLC52A1-
-
-
-
1Loss-
SLC5A10-
-
-
-
1Loss-
SLC5A6-
-
-
-
1Loss-
SLC6A4-
-
-
-
3Gain-
SLC6A9p.R100W
Missense
SNP
0.477
2--
SLC8A1-
-
-
-
1Loss-
SLC9A3R2-
-
-
-
3Gain-
SLC9A4p.V220M
Missense
SNP
0.536
2--
SLC9C2-
-
-
-
4Gain-
SLFN11-
-
-
-
3Gain-
SLFN12-
-
-
-
3Gain-
SLFN12L-
-
-
-
3Gain-
SLFN13-
-
-
-
3Gain-
SLFN14-
-
-
-
3Gain-
SLFN5-
-
-
-
3Gain-
SLTMp.R657W
Missense
SNP
0.506
2--
SLX4p.A117T
Missense
SNP
0.432
2--
SMARCA4p.N91K
Missense
SNP
0.498
2--
SMARCD3-
-
-
-
1Loss-
SMARCE1-
-
-
-
3Gain-
SMCHD1p.R1868*
Nonsense
SNP
0.417
2--
SMCP-
-
-
-
4Gain-
SMCR8-
-
-
-
1Loss-
SMG5-
-
-
-
4Gain-
SMG6p.A1263V
Missense
SNP
1.000
1Loss-
SMG7-
-
-
-
4Gain-
SMIM11B-
-
-
-
1Loss-
SMIM2-
-
-
-
1Loss-
SMKR1-
-
-
-
1Loss-
SMO-
-
-
-
1Loss-
SMTNL2-
-
-
-
1Loss-
SMURF1-
-
-
-
1Loss-
SMYD2-
-
-
-
4Gain-
SMYD3-
-
-
-
4Gain-
SMYD4-
-
-
-
1Loss-
SNAP47-
-
-
-
4Gain-
SNAPIN-
-
-
-
4Gain-
SND1-
-
-
-
1Loss-
SNHG28-
-
-
-
4Gain-
SNRNP25-
-
-
-
3Gain-
SNRPE-
-
-
-
4Gain-
SNX1p.R185Efs*33
Frame_Shift_Del
DEL
0.545
2--
SNX10-
-
-
-
3Gain-
SNX13-
-
-
-
3Gain-
SNX17-
-
-
-
1Loss-
SNX27-
-
-
-
4Gain-
SNX8-
-
-
-
3Gain-
SOAT1-
-
-
-
4Gain-
SOCS5-
-
-
-
1Loss-
SOCS7-
-
-
-
3Gain-
SONp.P406H
Missense
SNP
0.512
2--
SORBS1p.V633M
Missense
SNP
0.371
2--
SORBS2p.E1144Nfs*65
Frame_Shift_Del
DEL
0.275
2--
SORCS2p.A863V
Missense
SNP
0.507
2--
SOS1-
-
-
-
1Loss-
SOSTDC1-
-
-
-
3Gain-
SOX13-
-
-
-
4Gain-
SOX15-
-
-
-
1Loss-
SOX17p.T361M
Missense
SNP
0.467
2--
SOX8-
-
-
-
3Gain-
SOX9p.G225Afs*28
Frame_Shift_Del
DEL
0.535
2--
SP4-
-
-
-
3Gain-
SP8-
-
-
-
3Gain-
SPACA3-
-
-
-
3Gain-
SPACA7p.L124P
Missense
SNP
0.536
2--
SPAG11B-
-
-
-
1Loss-
SPAG5-
-
-
-
3Gain-
SPAG7-
-
-
-
1Loss-
SPAM1-
-
-
-
1Loss-
SPAST-
-
-
-
1Loss-
SPATA17-
-
-
-
4Gain-
SPATA22-
-
-
-
1Loss-
SPATA45-
-
-
-
4Gain-
SPATA46-
-
-
-
4Gain-
SPATA48-
-
-
-
3Gain-
SPDYA-
-
-
-
1Loss-
SPDYE16-
-
-
-
1Loss-
SPDYE3-
-
-
-
1Loss-
SPDYE4-
-
-
-
1Loss-
SPECC1-
-
-
-
1Loss-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPENp.T3558M
Missense
SNP
0.242
2--
SPERT-
-
-
-
1Loss-
SPHAR-
-
-
-
4Gain-
SPINK7p.V30Wfs*42
Frame_Shift_Del
DEL
0.514
2--
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SPOCD1p.D199Y
Missense
SNP
0.562
2--
SPRR1A-
-
-
-
4Gain-
SPRR1B-
-
-
-
4Gain-
SPRR2G-
-
-
-
4Gain-
SPRR3-
-
-
-
4Gain-
SPRR4-
-
-
-
4Gain-
SPRTN-
-
-
-
4Gain-
SPRYD7-
-
-
-
1Loss-
SPSB3-
-
-
-
3Gain-
SPTA1-
-
-
-
4Gain-
SPTAN1p.V444I
Missense
SNP
0.128
2--
SPTBN2p.A1625V
p.E1048D
Missense
Missense
SNP
SNP
0.498
0.481
2--
SPTBN4p.E138Afs*9
Frame_Shift_Del
DEL
0.350
2--
SRA1-
-
-
-
3Gain-
SRBD1-
-
-
-
1Loss-
SRCIN1p.G486Efs*201
Frame_Shift_Del
DEL
0.288
3Gain-
SRD5A2-
-
-
-
1Loss-
SREBF1-
-
-
-
1Loss-
SRGAP2-
-
-
-
4Gain-
SRGAP2B-
-
-
-
3Gain-
SRI-
-
-
-
1Loss-
SRP9-
-
-
-
4Gain-
SRPK2-
-
-
-
1Loss-
SRR-
-
-
-
1Loss-
SRRM3-
-
-
-
1Loss-
SRRM5p.R197H
Missense
SNP
0.515
2--
SRRT-
-
-
-
1Loss-
SRSF7-
-
-
-
1Loss-
SSBP1-
-
-
-
1Loss-
SSC4D-
-
-
-
1Loss-
SSH2-
-
-
-
3Gain-
SSMEM1-
-
-
-
1Loss-
SSPO-
-
-
-
1Loss-
SSR2-
-
-
-
4Gain-
SSTR5-
-
-
-
3Gain-
ST7-
-
-
-
1Loss-
STAB1p.P978Lfs*57
p.R1122Pfs*37
Frame_Shift_Del
Frame_Shift_Ins
DEL
INS
0.427
0.300
2--
STAC2-
-
-
-
3Gain-
STAC3p.P79Qfs*31
Frame_Shift_Del
DEL
0.465
2--
STAG3-
-
-
-
1Loss-
STARD3-
-
-
-
3Gain-
STARD3NL-
-
-
-
3Gain-
STAT3-
-
-
-
3Gain-
STAT5A-
-
-
-
3Gain-
STAT5B-
-
-
-
3Gain-
STEAP1-
-
-
-
1Loss-
STEAP1B-
-
-
-
3Gain-
STEAP2-
-
-
-
1Loss-
STEAP4-
-
-
-
1Loss-
STIP1p.R91C
Missense
SNP
0.369
2--
STK17A-
-
-
-
3Gain-
STK31-
-
-
-
3Gain-
STK32Cp.V193A
Missense
SNP
0.516
2--
STMP1-
-
-
-
1Loss-
STON1-
-
-
-
1Loss-
STON1-GTF2A1L-
-
-
-
1Loss-
STOX1p.R492*
Nonsense
SNP
0.475
2--
STPG4-
-
-
-
1Loss-
STRA8-
-
-
-
1Loss-
STRIP2-
-
-
-
1Loss-
STRN-
-
-
-
1Loss-
STUB1-
-
-
-
3Gain-
STUM-
-
-
-
4Gain-
STX1A-
-
-
-
1Loss-
STX6-
-
-
-
4Gain-
STX8-
-
-
-
1Loss-
STYXL1-
-
-
-
1Loss-
SUCLA2-
-
-
-
1Loss-
SUCO-
-
-
-
4Gain-
SUGCT-
-
-
-
3Gain-
SULF1p.R440W
Missense
SNP
0.410
2--
SULF2p.V290A
Missense
SNP
0.480
2--
SULT6B1-
-
-
-
1Loss-
SUMF2-
-
-
-
3Gain-
SUN1-
-
-
-
3Gain-
SUN3-
-
-
-
3Gain-
SUPT6H-
-
-
-
3Gain-
SUPT7L-
-
-
-
1Loss-
SUSD4-
-
-
-
4Gain-
SUZ12-
-
-
-
3Gain-
SV2A-
-
-
-
4Gain-
SVOPL-
-
-
-
1Loss-
SWT1-
-
-
-
4Gain-
SYDE1p.R574H
Missense
SNP
0.566
2--
SYNE2p.F4992Lfs*13
Frame_Shift_Del
DEL
0.072
2--
SYNGR3-
-
-
-
3Gain-
SYNRG-
-
-
-
3Gain-
SYPL1-
-
-
-
1Loss-
SYT11-
-
-
-
4Gain-
SYT14-
-
-
-
4Gain-
SYT2-
-
-
-
4Gain-
SZT2p.T2132M
Missense
SNP
0.459
2--
TAC1-
-
-
-
1Loss-
TACC2p.P2149Qfs*2
Frame_Shift_Del
DEL
0.341
2--
TADA1-
-
-
-
4Gain-
TADA2A-
-
-
-
3Gain-
TAF15-
-
-
-
3Gain-
TAF1A-
-
-
-
4Gain-
TAF1Bp.N66Tfs*26
Frame_Shift_Del
DEL
0.840
2--
TAF5L-
-
-
-
4Gain-
TAF6-
-
-
-
1Loss-
TAGLN2-
-
-
-
4Gain-
TAOK1-
-
-
-
3Gain-
TARBP1-
-
-
-
4Gain-
TARS2-
-
-
-
4Gain-
TAS2R16-
-
-
-
1Loss-
TAS2R3-
-
-
-
1Loss-
TAS2R38-
-
-
-
1Loss-
TAS2R39-
-
-
-
1Loss-
TAS2R4-
-
-
-
1Loss-
TAS2R40-
-
-
-
1Loss-
TAS2R41-
-
-
-
1Loss-
TAS2R5-
-
-
-
1Loss-
TAS2R60-
-
-
-
1Loss-
TATDN3-
-
-
-
4Gain-
TAX1BP1-
-
-
-
3Gain-
TAX1BP3-
-
-
-
1Loss-
TBC1D24-
-
-
-
3Gain-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBC1D29-
-
-
-
3Gain-
TBC1D3-
-
-
-
3Gain-
TBC1D3B-
-
-
-
3Gain-
TBC1D3E-
-
-
-
3Gain-
TBC1D3F-
-
-
-
3Gain-
TBC1D3K-
-
-
-
3Gain-
TBCE-
-
-
-
4Gain-
TBL2-
-
-
-
1Loss-
TBL3-
-
-
-
3Gain-
TBRG4-
-
-
-
3Gain-
TBX19-
-
-
-
4Gain-
TBX20-
-
-
-
3Gain-
TBX21p.R80Q
Missense
SNP
0.527
2--
TBXAS1-
-
-
-
1Loss-
TCAF1-
-
-
-
1Loss-
TCAF2-
-
-
-
1Loss-
TCAF2C-
-
-
-
1Loss-
TCAP-
-
-
-
3Gain-
TCF23-
-
-
-
1Loss-
TCHH-
-
-
-
4Gain-
TCHHL1-
-
-
-
4Gain-
TCOF1p.S1204P
Missense
SNP
0.580
2--
TDRD10-
-
-
-
4Gain-
TDRD5-
-
-
-
4Gain-
TDRKH-
-
-
-
4Gain-
TECPR1-
-
-
-
1Loss-
TEDC2-
-
-
-
3Gain-
TEDDM1-
-
-
-
4Gain-
TEFM-
-
-
-
3Gain-
TEKT1-
-
-
-
1Loss-
TEKT3-
-
-
-
1Loss-
TELO2-
-
-
-
3Gain-
TENM4p.R2238Q
Missense
SNP
0.471
2--
TERTp.V553I
Missense
SNP
0.162
2--
TES-
-
-
-
1Loss-
TESPA1p.P347Lfs*30
Frame_Shift_Del
DEL
0.521
2--
TEX35-
-
-
-
4Gain-
TEX47-
-
-
-
1Loss-
TEX50-
-
-
-
4Gain-
TFB2M-
-
-
-
4Gain-
TFEC-
-
-
-
1Loss-
TFPI2-
-
-
-
1Loss-
TFR2-
-
-
-
1Loss-
TGFB2-
-
-
-
4Gain-
THADA-
-
-
-
1Loss-
THAP5-
-
-
-
1Loss-
THBS1p.L240I
Missense
SNP
0.458
2--
THBS3-
-
-
-
4Gain-
THEM4-
-
-
-
4Gain-
THEM5-
-
-
-
4Gain-
THNSL2p.X359_splice
Splice_Site
SNP
0.445
2--
THRA-
-
-
-
3Gain-
THSD7A-
-
-
-
3Gain-
THUMPD2-
-
-
-
1Loss-
TIAF1-
-
-
-
3Gain-
TIAM1p.R31C
Missense
SNP
0.509
2--
TICRRp.R1899W
Missense
SNP
0.581
2--
TIE1p.F1100Lfs*8
Frame_Shift_Del
DEL
0.502
2--
TIMM17A-
-
-
-
4Gain-
TIMM22-
-
-
-
1Loss-
TIMM44p.V183Wfs*4
Frame_Shift_Del
DEL
0.432
2--
TIPRL-
-
-
-
4Gain-
TJAP1p.E134D
Missense
SNP
0.477
2--
TLCD1-
-
-
-
3Gain-
TLCD2-
-
-
-
1Loss-
TLE2p.G388R
Missense
SNP
0.467
2--
TLR5-
-
-
-
4Gain-
TLX3p.G50Afs*29
Frame_Shift_Del
DEL
0.401
2--
TM4SF5-
-
-
-
1Loss-
TMC4p.V335G
Missense
SNP
0.484
2--
TMCC2-
-
-
-
4Gain-
TMCO1-
-
-
-
4Gain-
TMED4-
-
-
-
3Gain-
TMEM102-
-
-
-
1Loss-
TMEM106B-
-
-
-
3Gain-
TMEM107-
-
-
-
1Loss-
TMEM11-
-
-
-
1Loss-
TMEM120A-
-
-
-
1Loss-
TMEM130-
-
-
-
1Loss-
TMEM132E-
-
-
-
3Gain-
TMEM139-
-
-
-
1Loss-
TMEM140-
-
-
-
1Loss-
TMEM150Bp.A194T
Missense
SNP
0.505
2--
TMEM161Bp.L243*
Frame_Shift_Del
DEL
0.525
2--
TMEM168-
-
-
-
1Loss-
TMEM176A-
-
-
-
1Loss-
TMEM176B-
-
-
-
1Loss-
TMEM178A-
-
-
-
1Loss-
TMEM178B-
-
-
-
1Loss-
TMEM182p.D187V
Missense
SNP
0.518
2--
TMEM183A-
-
-
-
4Gain-
TMEM184A-
-
-
-
3Gain-
TMEM196-
-
-
-
3Gain-
TMEM199-
-
-
-
3Gain-
TMEM200Ap.R114C
Missense
SNP
0.437
2--
TMEM200Bp.A211T
Missense
SNP
0.469
2--
TMEM204-
-
-
-
3Gain-
TMEM206-
-
-
-
4Gain-
TMEM209-
-
-
-
1Loss-
TMEM213-
-
-
-
1Loss-
TMEM214-
-
-
-
1Loss-
TMEM220-
-
-
-
1Loss-
TMEM225B-
-
-
-
1Loss-
TMEM229A-
-
-
-
1Loss-
TMEM243-
-
-
-
1Loss-
TMEM247-
-
-
-
1Loss-
TMEM248-
-
-
-
1Loss-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM270-
-
-
-
1Loss-
TMEM60-
-
-
-
1Loss-
TMEM63A-
-
-
-
4Gain-
TMEM79-
-
-
-
4Gain-
TMEM81-
-
-
-
4Gain-
TMEM88-
-
-
-
1Loss-
TMEM8A-
-
-
-
3Gain-
TMEM9-
-
-
-
4Gain-
TMEM95-
-
-
-
1Loss-
TMEM97-
-
-
-
3Gain-
TMEM98-
-
-
-
3Gain-
TMEM99p.G88S
Missense
SNP
0.236
3Gain-
TMIGD1-
-
-
-
3Gain-
TMOD4-
-
-
-
4Gain-
TMTC4p.K458Rfs*17
p.Y341H
Frame_Shift_Del
Missense
DEL
SNP
0.449
0.513
2--
TMUB1-
-
-
-
1Loss-
TNCp.R1309C
Missense
SNP
0.513
2--
TNFAIP1-
-
-
-
3Gain-
TNFAIP8L2-
-
-
-
4Gain-
TNFRSF10Ap.A303T
Missense
SNP
0.485
2--
TNFRSF13B-
-
-
-
1Loss-
TNFSF11-
-
-
-
1Loss-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF18-
-
-
-
4Gain-
TNFSF4-
-
-
-
4Gain-
TNK1-
-
-
-
1Loss-
TNKS2p.D704G
Missense
SNP
0.463
2--
TNN-
-
-
-
4Gain-
TNNI1-
-
-
-
4Gain-
TNNT2-
-
-
-
4Gain-
TNPO3-
-
-
-
1Loss-
TNR-
-
-
-
4Gain-
TNRC18-
-
-
-
3Gain-
TNS3-
-
-
-
3Gain-
TNS4-
-
-
-
3Gain-
TOB1p.R83C
Missense
SNP
0.421
2--
TOGARAM2-
-
-
-
1Loss-
TOM1p.S348G
Missense
SNP
0.484
2--
TOM1L2-
-
-
-
1Loss-
TOMM20-
-
-
-
4Gain-
TOMM40L-
-
-
-
4Gain-
TOMM7-
-
-
-
3Gain-
TOP2Ap.I172R
Missense
SNP
0.582
3Gain-
TOP3A-
-
-
-
1Loss-
TOR1AIP1p.G488C
Missense
SNP
0.232
4Gain-
TOR1AIP2-
-
-
-
4Gain-
TOR3A-
-
-
-
4Gain-
TP53p.R181H
Missense
SNP
1.000
1Loss-
TP53BP2-
-
-
-
4Gain-
TP53I13-
-
-
-
3Gain-
TPK1-
-
-
-
1Loss-
TPM3-
-
-
-
4Gain-
TPP1p.H166Mfs*17
Frame_Shift_Del
DEL
0.423
2--
TPR-
-
-
-
4Gain-
TPSAB1-
-
-
-
3Gain-
TPSB2-
-
-
-
3Gain-
TPSD1-
-
-
-
3Gain-
TPSG1-
-
-
-
3Gain-
TPST1-
-
-
-
1Loss-
TPT1-
-
-
-
1Loss-
TPTE2p.F161Lfs*15
Frame_Shift_Del
DEL
0.324
2--
TRA2A-
-
-
-
3Gain-
TRAF3IP3p.E55Afs*67
Frame_Shift_Del
DEL
0.284
4Gain-
TRAF4-
-
-
-
3Gain-
TRAF5-
-
-
-
4Gain-
TRAF7-
-
-
-
3Gain-
TRANK1p.L1219Sfs*25
Frame_Shift_Ins
INS
0.326
2--
TRAPPC1-
-
-
-
1Loss-
TRARG1-
-
-
-
1Loss-
TRIB3p.R261W
Missense
SNP
0.472
2--
TRIL-
-
-
-
3Gain-
TRIM11-
-
-
-
4Gain-
TRIM13-
-
-
-
1Loss-
TRIM16-
-
-
-
1Loss-
TRIM16L-
-
-
-
1Loss-
TRIM17-
-
-
-
4Gain-
TRIM24-
-
-
-
1Loss-
TRIM4-
-
-
-
1Loss-
TRIM45p.I90F
Missense
SNP
0.523
2--
TRIM46-
-
-
-
4Gain-
TRIM50-
-
-
-
1Loss-
TRIM54p.R289H
Missense
SNP
1.000
1Loss-
TRIM56-
-
-
-
1Loss-
TRIM58-
-
-
-
4Gain-
TRIM67-
-
-
-
4Gain-
TRIM73-
-
-
-
1Loss-
TRIM74-
-
-
-
1Loss-
TRIP10p.G557D
Missense
SNP
0.431
2--
TRIP6-
-
-
-
1Loss-
TRMOp.D318Y
Missense
SNP
0.435
2--
TRMT1L-
-
-
-
4Gain-
TRMT2Ap.R532Q
Missense
SNP
0.490
2--
TRMT6p.R238W
Missense
SNP
0.451
2--
TRMT61B-
-
-
-
1Loss-
TROVE2-
-
-
-
4Gain-
TRPA1p.R393*
Nonsense
SNP
0.350
2--
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TRPV5-
-
-
-
1Loss-
TRPV6-
-
-
-
1Loss-
TRRAP-
-
-
-
1Loss-
TSACC-
-
-
-
4Gain-
TSC2-
-
-
-
3Gain-
TSC22D1-
-
-
-
1Loss-
TSC22D4-
-
-
-
1Loss-
TSEN15-
-
-
-
4Gain-
TSGA10p.R11C
Missense
SNP
0.419
2--
TSGA13-
-
-
-
1Loss-
TSNAX-
-
-
-
4Gain-
TSNAX-DISC1-
-
-
-
4Gain-
TSPAN12-
-
-
-
1Loss-
TSPAN13-
-
-
-
3Gain-
TSPAN33-
-
-
-
1Loss-
TSR1-
-
-
-
1Loss-
TSR3-
-
-
-
3Gain-
TSTp.E286Rfs*10
Frame_Shift_Ins
INS
0.335
2--
TSTD1-
-
-
-
4Gain-
TTC13-
-
-
-
4Gain-
TTC19-
-
-
-
1Loss-
TTC24-
-
-
-
4Gain-
TTC25-
-
-
-
3Gain-
TTC26-
-
-
-
1Loss-
TTC27-
-
-
-
1Loss-
TTC7A-
-
-
-
1Loss-
TTKp.K857Nfs*36
Frame_Shift_Del
DEL
0.455
2--
TTLL5p.R556*
Nonsense
SNP
0.444
2--
TTNp.A16870V
p.P11756T
p.T10168M
Missense
Missense
Missense
SNP
SNP
SNP
0.448
0.289
0.486
2--
TTYH3-
-
-
-
3Gain-
TUBA3Ep.E411K
Missense
SNP
0.527
2--
TUBB4Bp.M363Cfs*53
Frame_Shift_Del
DEL
0.502
2--
TUFT1-
-
-
-
4Gain-
TVP23B-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWIST1-
-
-
-
3Gain-
TWISTNBp.K311Rfs*15
Frame_Shift_Del
DEL
0.580
3Gain-
TXNDC11p.R864Q
Missense
SNP
0.456
2--
TXNDC17-
-
-
-
1Loss-
TXNDC5p.R281W
Missense
SNP
0.195
2--
TXNIP-
-
-
-
3Gain-
TYW1-
-
-
-
1Loss-
TYW1B-
-
-
-
1Loss-
U2AF1-
-
-
-
1Loss-
U2AF1L5-
-
-
-
1Loss-
UAP1-
-
-
-
4Gain-
UBAP2L-
-
-
-
4Gain-
UBB-
-
-
-
1Loss-
UBE2D4-
-
-
-
3Gain-
UBE2G1-
-
-
-
1Loss-
UBE2H-
-
-
-
1Loss-
UBE2I-
-
-
-
3Gain-
UBE2Op.H1018Pfs*18
Frame_Shift_Ins
INS
0.292
2--
UBE2Q1-
-
-
-
4Gain-
UBE2T-
-
-
-
4Gain-
UBE3C-
-
-
-
1Loss-
UBN2-
-
-
-
1Loss-
UBQLN4-
-
-
-
4Gain-
UCHL5-
-
-
-
4Gain-
UCK2-
-
-
-
4Gain-
UCN-
-
-
-
1Loss-
UFC1-
-
-
-
4Gain-
UFSP1-
-
-
-
1Loss-
UGCGp.L342V
Missense
SNP
0.519
2--
UGT1A1p.G96R
Missense
SNP
0.450
2--
UGT1A8p.F117Lfs*17
Frame_Shift_Del
DEL
0.421
2--
UHMK1-
-
-
-
4Gain-
ULK2-
-
-
-
1Loss-
UMAD1-
-
-
-
3Gain-
UMODL1p.R152Afs*91
p.A1237T
Frame_Shift_Ins
Missense
INS
SNP
0.366
0.107
2--
UMPSp.V71M
Missense
SNP
0.458
2--
UNC119-
-
-
-
3Gain-
UNC45Ap.N390I
Missense
SNP
0.437
2--
UNC45B-
-
-
-
3Gain-
UNCX-
-
-
-
3Gain-
UNKL-
-
-
-
3Gain-
UPK3B-
-
-
-
1Loss-
UPK3BL1-
-
-
-
1Loss-
UPP1-
-
-
-
3Gain-
URB2-
-
-
-
4Gain-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
USF1-
-
-
-
4Gain-
USH2A-
-
-
-
4Gain-
USP15p.K783Nfs*4
Frame_Shift_Del
DEL
0.436
2--
USP17L4-
-
-
-
1Loss-
USP21-
-
-
-
4Gain-
USP22-
-
-
-
1Loss-
USP32p.R703C
Missense
SNP
0.439
2--
USP35p.T655Pfs*23
Frame_Shift_Del
DEL
0.660
2--
USP42-
-
-
-
3Gain-
USP43p.A871T
Missense
SNP
0.996
1Loss-
USP6-
-
-
-
1Loss-
USP7p.R1090H
Missense
SNP
0.429
2--
UTF1p.T110A
Missense
SNP
0.492
2--
UTP25-
-
-
-
4Gain-
UTP6-
-
-
-
3Gain-
VAMP2-
-
-
-
1Loss-
VAMP4-
-
-
-
4Gain-
VANGL2-
-
-
-
4Gain-
VASH2-
-
-
-
4Gain-
VASPp.P206Lfs*62
Frame_Shift_Del
DEL
0.470
2--
VGF-
-
-
-
1Loss-
VHLL-
-
-
-
4Gain-
VILLp.R772*
Nonsense
SNP
0.457
2--
VIPR2-
-
-
-
1Loss-
VIT-
-
-
-
1Loss-
VKORC1L1-
-
-
-
1Loss-
VLDLRp.A753V
Missense
SNP
0.500
2--
VMO1-
-
-
-
1Loss-
VN1R2-
-
-
-
3Gain-
VN1R4-
-
-
-
3Gain-
VOPP1-
-
-
-
3Gain-
VPS37D-
-
-
-
1Loss-
VPS41-
-
-
-
3Gain-
VPS45-
-
-
-
4Gain-
VPS50-
-
-
-
1Loss-
VPS53-
-
-
-
1Loss-
VPS72-
-
-
-
4Gain-
VSIG8-
-
-
-
4Gain-
VSTM2A-
-
-
-
3Gain-
VTN-
-
-
-
3Gain-
VWA8-
-
-
-
1Loss-
VWC2-
-
-
-
3Gain-
VWDE-
-
-
-
3Gain-
WASL-
-
-
-
1Loss-
WBP4-
-
-
-
1Loss-
WDR24-
-
-
-
3Gain-
WDR26-
-
-
-
4Gain-
WDR33p.R853*
Nonsense
SNP
0.447
2--
WDR43-
-
-
-
1Loss-
WDR60-
-
-
-
1Loss-
WDR64-
-
-
-
4Gain-
WDR81-
-
-
-
1Loss-
WDR86-
-
-
-
1Loss-
WDR90-
-
-
-
3Gain-
WDR91-
-
-
-
1Loss-
WEE2-
-
-
-
1Loss-
WFIKKN1-
-
-
-
3Gain-
WHAMMp.P109Q
Missense
SNP
0.507
2--
WIPF2-
-
-
-
3Gain-
WIPF3p.P236Rfs*13
Frame_Shift_Del
DEL
0.278
3Gain-
WIPI2-
-
-
-
3Gain-
WNT16-
-
-
-
1Loss-
WNT2-
-
-
-
1Loss-
WNT3A-
-
-
-
4Gain-
WNT9A-
-
-
-
4Gain-
WRAP53-
-
-
-
1Loss-
WSB1-
-
-
-
3Gain-
WSCD1-
-
-
-
1Loss-
XAF1-
-
-
-
1Loss-
XCL1-
-
-
-
4Gain-
XCL2-
-
-
-
4Gain-
XDH-
-
-
-
1Loss-
XPR1-
-
-
-
4Gain-
XRCC2-
-
-
-
1Loss-
XXbac-BPG116M5.17p.N246D
Missense
SNP
0.484
NDND-
YAE1-
-
-
-
3Gain-
YBX2-
-
-
-
1Loss-
YEATS4p.G75D
Missense
SNP
0.414
2--
YIPF4-
-
-
-
1Loss-
YKT6-
-
-
-
3Gain-
YOD1-
-
-
-
4Gain-
YPEL5-
-
-
-
1Loss-
YWHAE-
-
-
-
1Loss-
YWHAG-
-
-
-
1Loss-
YY1AP1-
-
-
-
4Gain-
ZANp.T1224I
Missense
SNP
1.000
1Loss-
ZBED6-
-
-
-
4Gain-
ZBED6CL-
-
-
-
1Loss-
ZBTB18-
-
-
-
4Gain-
ZBTB34p.R321C
Missense
SNP
0.468
2--
ZBTB37-
-
-
-
4Gain-
ZBTB4-
-
-
-
1Loss-
ZBTB41-
-
-
-
4Gain-
ZBTB7B-
-
-
-
4Gain-
ZBTB7Cp.E135Rfs*87
Frame_Shift_Del
DEL
0.525
2--
ZC3H11A-
-
-
-
4Gain-
ZC3H13-
-
-
-
1Loss-
ZC3HAV1-
-
-
-
1Loss-
ZC3HAV1L-
-
-
-
1Loss-
ZC3HC1-
-
-
-
1Loss-
ZCWPW1-
-
-
-
1Loss-
ZCWPW2p.K303N
Missense
SNP
0.481
2--
ZDHHC1p.T427M
Missense
SNP
0.481
2--
ZDHHC18p.L100F
Missense
SNP
0.524
2--
ZDHHC4-
-
-
-
3Gain-
ZFAND2A-
-
-
-
3Gain-
ZFHX4p.T1266M
Missense
SNP
0.361
2--
ZFP3-
-
-
-
1Loss-
ZFP36L2-
-
-
-
1Loss-
ZFP82p.I55T
Missense
SNP
0.615
2--
ZFRp.E359Kfs*4
Frame_Shift_Del
DEL
0.140
2--
ZGPATp.R208H
Missense
SNP
0.494
2--
ZKSCAN1-
-
-
-
1Loss-
ZKSCAN5-
-
-
-
1Loss-
ZMIZ2-
-
-
-
3Gain-
ZMYND15-
-
-
-
1Loss-
ZNF107-
-
-
-
1Loss-
ZNF117-
-
-
-
1Loss-
ZNF12-
-
-
-
3Gain-
ZNF124-
-
-
-
4Gain-
ZNF135p.T174M
Missense
SNP
0.393
2--
ZNF138-
-
-
-
1Loss-
ZNF141p.V153F
Missense
SNP
0.484
2--
ZNF160-
-
-
-
3Gain-
ZNF18-
-
-
-
1Loss-
ZNF202p.S146L
Missense
SNP
0.478
2--
ZNF207-
-
-
-
3Gain-
ZNF212-
-
-
-
1Loss-
ZNF232-
-
-
-
1Loss-
ZNF273-
-
-
-
1Loss-
ZNF277-
-
-
-
1Loss-
ZNF28-
-
-
-
3Gain-
ZNF281-
-
-
-
4Gain-
ZNF282p.P456H
Missense
SNP
1.000
1Loss-
ZNF286A-
-
-
-
1Loss-
ZNF286B-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF3-
-
-
-
1Loss-
ZNF316-
-
-
-
3Gain-
ZNF320-
-
-
-
3Gain-
ZNF330p.C178R
Missense
SNP
0.500
2--
ZNF347-
-
-
-
3Gain-
ZNF385C-
-
-
-
3Gain-
ZNF391p.K79N
Missense
SNP
0.648
2--
ZNF394-
-
-
-
1Loss-
ZNF398-
-
-
-
1Loss-
ZNF415-
-
-
-
3Gain-
ZNF425-
-
-
-
1Loss-
ZNF467-
-
-
-
1Loss-
ZNF468p.A291V
Missense
SNP
0.517
3Gain-
ZNF479-
-
-
-
3Gain-
ZNF496-
-
-
-
4Gain-
ZNF507p.N815S
Missense
SNP
0.497
2--
ZNF512-
-
-
-
1Loss-
ZNF513p.T233Lfs*42
Frame_Shift_Del
DEL
0.977
1Loss-
ZNF525-
-
-
-
3Gain-
ZNF528-
-
-
-
3Gain-
ZNF534-
-
-
-
3Gain-
ZNF576p.R38C
Missense
SNP
0.502
2--
ZNF578-
-
-
-
3Gain-
ZNF587p.R173H
Missense
SNP
0.296
2--
ZNF592p.Q304P
Missense
SNP
0.453
2--
ZNF594-
-
-
-
1Loss-
ZNF598-
-
-
-
3Gain-
ZNF600p.K281N
Missense
SNP
0.510
3Gain-
ZNF611-
-
-
-
3Gain-
ZNF624-
-
-
-
1Loss-
ZNF629p.E490K
Missense
SNP
0.446
2--
ZNF648-
-
-
-
4Gain-
ZNF655-
-
-
-
1Loss-
ZNF665-
-
-
-
3Gain-
ZNF669-
-
-
-
4Gain-
ZNF670-
-
-
-
4Gain-
ZNF670-ZNF695-
-
-
-
4Gain-
ZNF672-
-
-
-
4Gain-
ZNF677-
-
-
-
3Gain-
ZNF678-
-
-
-
4Gain-
ZNF679-
-
-
-
1Loss-
ZNF680-
-
-
-
1Loss-
ZNF687-
-
-
-
4Gain-
ZNF692-
-
-
-
4Gain-
ZNF695-
-
-
-
4Gain-
ZNF701-
-
-
-
3Gain-
ZNF713-
-
-
-
3Gain-
ZNF716-
-
-
-
3Gain-
ZNF727-
-
-
-
1Loss-
ZNF735-
-
-
-
1Loss-
ZNF736-
-
-
-
1Loss-
ZNF746-
-
-
-
1Loss-
ZNF761-
-
-
-
3Gain-
ZNF765-
-
-
-
3Gain-
ZNF775-
-
-
-
1Loss-
ZNF777-
-
-
-
1Loss-
ZNF780A-
-
-
-
3Gain-
ZNF780B-
-
-
-
3Gain-
ZNF783-
-
-
-
1Loss-
ZNF786-
-
-
-
1Loss-
ZNF789-
-
-
-
1Loss-
ZNF800-
-
-
-
1Loss-
ZNF804B-
-
-
-
1Loss-
ZNF808-
-
-
-
3Gain-
ZNF813-
-
-
-
3Gain-
ZNF816-
-
-
-
3Gain-
ZNF816-ZNF321P-
-
-
-
3Gain-
ZNF83-
-
-
-
3Gain-
ZNF830-
-
-
-
3Gain-
ZNF845-
-
-
-
3Gain-
ZNF853-
-
-
-
3Gain-
ZNF862-
-
-
-
1Loss-
ZNF888-
-
-
-
3Gain-
ZNF92-
-
-
-
1Loss-
ZNFX1p.R900Efs*2
Frame_Shift_Del
DEL
0.571
2--
ZNHIT1-
-
-
-
1Loss-
ZNHIT3-
-
-
-
3Gain-
ZNRF2-
-
-
-
3Gain-
ZP3-
-
-
-
1Loss-
ZP4-
-
-
-
4Gain-
ZPBP-
-
-
-
3Gain-
ZPBP2-
-
-
-
3Gain-
ZPR1p.M52T
Missense
SNP
0.521
2--
ZSCAN21-
-
-
-
1Loss-
ZSCAN22p.A232V
Missense
SNP
0.506
2--
ZSCAN25-
-
-
-
1Loss-
ZSWIM2p.P70L
Missense
SNP
0.341
2--
ZSWIM7-
-
-
-
1Loss-
ZYX-
-
-
-
1Loss-
ZZEF1-
-
-
-
1Loss-
ZZZ3p.R77Q
Missense
SNP
0.564
NDND-