PDMR-292921~168-R~WS0Y23Y42-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2M-
-
-
-
3Gain-
A2ML1-
-
-
-
3Gain-
AAAS-
-
-
-
3Gain-
AACS-
-
-
-
3Gain-
AATKp.G1135A
Missense
SNP
0.513
2--
ABCA1p.A465V
Missense
SNP
0.428
2--
ABCA13p.Q2194K
Missense
SNP
0.537
2--
ABCA2p.A1919T
Missense
SNP
0.465
2--
ABCA7p.A1012T
p.P1360L
Missense
Missense
SNP
SNP
0.529
0.362
2--
ABCA8p.G275D
Missense
SNP
0.349
2--
ABCB1p.T1015P
Missense
SNP
0.500
2--
ABCB9-
-
-
-
3Gain-
ABCC1p.G683R
Missense
SNP
0.544
2--
ABCC11p.S662Y
Missense
SNP
0.387
2--
ABCC9-
-
-
-
3Gain-
ABCD2-
-
-
-
3Gain-
ABCD4-
-
-
-
3Gain-
ABCG5-
-
-
-
1Loss-
ABCG8-
-
-
-
1Loss-
ABHD12B-
-
-
-
3Gain-
ABHD4-
-
-
-
3Gain-
ABLIM3-
-
-
-
3Gain-
AC002996.1-
-
-
-
3Gain-
AC005520.1-
-
-
-
3Gain-
AC005832.4-
-
-
-
3Gain-
AC005833.1-
-
-
-
3Gain-
AC006064.6-
-
-
-
3Gain-
AC006518.7-
-
-
-
3Gain-
AC007375.1-
-
-
-
3Gain-
AC008012.1-
-
-
-
3Gain-
AC008575.1-
-
-
-
3Gain-
AC008581.2-
-
-
-
3Gain-
AC008676.3-
-
-
-
3Gain-
AC008695.1-
-
-
-
3Gain-
AC010197.2-
-
-
-
3Gain-
AC010255.3-
-
-
-
3Gain-
AC010615.4-
-
-
-
1Loss-
AC011330.3-
-
-
-
1Loss-
AC011604.2-
-
-
-
3Gain-
AC012531.2-
-
-
-
3Gain-
AC013717.1-
-
-
-
1Loss-
AC022335.1-
-
-
-
3Gain-
AC022414.1-
-
-
-
3Gain-
AC023055.1-
-
-
-
3Gain-
AC023509.3-
-
-
-
3Gain-
AC025165.3-
-
-
-
3Gain-
AC025263.2-
-
-
-
3Gain-
AC026398.1-
-
-
-
3Gain-
AC026786.1-
-
-
-
3Gain-
AC034102.2-
-
-
-
3Gain-
AC048338.1-
-
-
-
3Gain-
AC068775.1-
-
-
-
3Gain-
AC069503.2-
-
-
-
3Gain-
AC073082.1-
-
-
-
1Loss-
AC073283.3-
-
-
-
1Loss-
AC073610.2-
-
-
-
3Gain-
AC073610.3-
-
-
-
3Gain-
AC073612.1-
-
-
-
3Gain-
AC073896.1-
-
-
-
3Gain-
AC078927.1-
-
-
-
3Gain-
AC091959.3-
-
-
-
3Gain-
AC092111.3-
-
-
-
3Gain-
AC092329.3-
-
-
-
1Loss-
AC097104.1-
-
-
-
3Gain-
AC104109.3-
-
-
-
3Gain-
AC113348.2-
-
-
-
3Gain-
AC116366.3-
-
-
-
3Gain-
AC117378.1-
-
-
-
3Gain-
AC134980.3-
-
-
-
5Amp-
AC135068.1-
-
-
-
5Amp-
AC135068.3-
-
-
-
5Amp-
AC137834.1-
-
-
-
3Gain-
AC139491.7-
-
-
-
3Gain-
AC142391.1-
-
-
-
3Gain-
AC244517.10-
-
-
-
3Gain-
ACAA1p.P422H
Missense
SNP
0.447
2--
ACACB-
-
-
-
3Gain-
ACAD10-
-
-
-
3Gain-
ACADS-
-
-
-
3Gain-
ACIN1-
-
-
-
3Gain-
ACOT1-
-
-
-
3Gain-
ACOT12-
-
-
-
3Gain-
ACOT2-
-
-
-
3Gain-
ACOT4-
-
-
-
3Gain-
ACOT6-
-
-
-
3Gain-
ACRBP-
-
-
-
3Gain-
ACSL6-
-
-
-
3Gain-
ACSM4-
-
-
-
3Gain-
ACSS3-
-
-
-
3Gain-
ACTBL2-
-
-
-
3Gain-
ACTN1-
-
-
-
3Gain-
ACTR10-
-
-
-
3Gain-
ACTR6-
-
-
-
3Gain-
ACVR1B-
-
-
-
3Gain-
ACVRL1-
-
-
-
3Gain-
ACYP1-
-
-
-
3Gain-
ADAM19-
-
-
-
3Gain-
ADAM20-
-
-
-
3Gain-
ADAM21-
-
-
-
3Gain-
ADAMTS12-
-
-
-
3Gain-
ADAMTS16-
-
-
-
3Gain-
ADAMTS19-
-
-
-
3Gain-
ADAMTS2-
-
-
-
3Gain-
ADAMTS20-
-
-
-
3Gain-
ADAMTS6-
-
-
-
3Gain-
ADCK1-
-
-
-
3Gain-
ADCY2-
-
-
-
3Gain-
ADCY4-
-
-
-
3Gain-
ADCY6-
-
-
-
3Gain-
ADGRA2p.D305N
Missense
SNP
0.321
2--
ADGRB3p.R274K
Missense
SNP
0.519
2--
ADGRD1-
-
-
-
3Gain-
ADGRL4p.N569H
Missense
SNP
0.122
2--
ADGRV1-
-
-
-
3Gain-
ADIPOR1p.V270M
p.Y109C
Missense
Missense
SNP
SNP
0.452
0.394
2--
ADIPOR2-
-
-
-
3Gain-
ADRA1B-
-
-
-
3Gain-
ADRB2-
-
-
-
3Gain-
ADSSL1-
-
-
-
3Gain-
AEBP2-
-
-
-
3Gain-
AFAP1L1-
-
-
-
3Gain-
AFF4p.R1146H
Missense
SNP
0.630
3Gain-
AGAP2-
-
-
-
3Gain-
AGBL1p.G227D
Missense
SNP
0.449
2--
AGGF1-
-
-
-
3Gain-
AGXT2-
-
-
-
3Gain-
AHNAK2-
-
-
-
3Gain-
AHRR-
-
-
-
3Gain-
AHSA1-
-
-
-
3Gain-
AICDA-
-
-
-
3Gain-
AIPp.L181I
Missense
SNP
0.157
2--
AJUBA-
-
-
-
3Gain-
AK6-
-
-
-
3Gain-
AK7-
-
-
-
3Gain-
AKAP1p.A777S
Missense
SNP
0.395
2--
AKAP3-
-
-
-
3Gain-
AKAP5-
-
-
-
3Gain-
AKAP6-
-
-
-
3Gain-
AKT1-
-
-
-
3Gain-
AL021546.1-
-
-
-
3Gain-
AL049779.1-
-
-
-
3Gain-
AL049839.2-
-
-
-
3Gain-
AL096870.1-
-
-
-
3Gain-
AL110118.2-
-
-
-
3Gain-
AL121594.1-
-
-
-
3Gain-
AL132780.3-
-
-
-
3Gain-
AL136295.1-
-
-
-
3Gain-
AL136295.3-
-
-
-
3Gain-
AL136295.4-
-
-
-
3Gain-
AL136295.5-
-
-
-
3Gain-
AL139300.1-
-
-
-
3Gain-
AL139353.1-
-
-
-
3Gain-
AL163195.3-
-
-
-
3Gain-
AL163636.2-
-
-
-
3Gain-
AL355102.2-
-
-
-
3Gain-
AL355916.2-
-
-
-
3Gain-
AL928654.3-
-
-
-
3Gain-
ALDH16A1p.V287I
Missense
SNP
0.446
2--
ALDH1L2-
-
-
-
3Gain-
ALDH2-
-
-
-
3Gain-
ALDH6A1-
-
-
-
3Gain-
ALDH7A1-
-
-
-
3Gain-
ALG10-
-
-
-
3Gain-
ALG10B-
-
-
-
3Gain-
ALKBH1-
-
-
-
3Gain-
ALKBH2-
-
-
-
3Gain-
ALKBH3p.R164H
Missense
SNP
0.464
2--
ALX1-
-
-
-
3Gain-
AMACR-
-
-
-
3Gain-
AMDHD1-
-
-
-
3Gain-
AMER2p.P562L
Missense
SNP
0.472
2--
AMHR2-
-
-
-
3Gain-
AMIGO2-
-
-
-
3Gain-
AMN-
-
-
-
3Gain-
AMN1-
-
-
-
3Gain-
AMOTL1p.D683N
Missense
SNP
0.114
2--
AMY2A-
-
-
-
3Gain-
AMY2B-
-
-
-
3Gain-
ANAPC5-
-
-
-
3Gain-
ANAPC7-
-
-
-
3Gain-
ANG-
-
-
-
3Gain-
ANGEL1-
-
-
-
3Gain-
ANHX-
-
-
-
3Gain-
ANKDD1B-
-
-
-
3Gain-
ANKH-
-
-
-
3Gain-
ANKHD1-
-
-
-
3Gain-
ANKHD1-EIF4EBP3-
-
-
-
3Gain-
ANKLE2-
-
-
-
3Gain-
ANKRA2-
-
-
-
3Gain-
ANKRD13A-
-
-
-
3Gain-
ANKRD13Cp.H435R
Missense
SNP
0.575
2--
ANKRD18Ap.K769N
Missense
SNP
0.434
2--
ANKRD31-
-
-
-
3Gain-
ANKRD33-
-
-
-
3Gain-
ANKRD33B-
-
-
-
3Gain-
ANKRD34B-
-
-
-
3Gain-
ANKRD52-
-
-
-
3Gain-
ANKRD55-
-
-
-
3Gain-
ANKRD9-
-
-
-
3Gain-
ANKS1B-
-
-
-
3Gain-
ANO2-
-
-
-
3Gain-
ANO4-
-
-
-
3Gain-
ANO6-
-
-
-
3Gain-
ANP32D-
-
-
-
3Gain-
ANTXR2p.G387R
Missense
SNP
0.528
2--
ANXA2R-
-
-
-
3Gain-
ANXA6-
-
-
-
3Gain-
AP1G2-
-
-
-
3Gain-
AP3B1-
-
-
-
3Gain-
AP3S1-
-
-
-
3Gain-
AP4S1-
-
-
-
3Gain-
AP5M1-
-
-
-
3Gain-
APAF1-
-
-
-
3Gain-
APBB3-
-
-
-
3Gain-
APC-
-
-
-
3Gain-
APCSp.W204*
Nonsense
SNP
0.385
2--
APEX1-
-
-
-
3Gain-
APOBEC1-
-
-
-
3Gain-
APOF-
-
-
-
3Gain-
APOLD1-
-
-
-
3Gain-
APOPT1-
-
-
-
3Gain-
APPL2-
-
-
-
3Gain-
AQP2-
-
-
-
3Gain-
AQP5-
-
-
-
3Gain-
AQP6-
-
-
-
3Gain-
ARAP3-
-
-
-
3Gain-
ARCN1p.A419V
Missense
SNP
0.391
2--
AREL1-
-
-
-
3Gain-
ARF3-
-
-
-
3Gain-
ARF6-
-
-
-
3Gain-
ARG2-
-
-
-
3Gain-
ARHGAP26-
-
-
-
3Gain-
ARHGAP5-
-
-
-
3Gain-
ARHGAP9-
-
-
-
3Gain-
ARHGDIB-
-
-
-
3Gain-
ARHGEF25-
-
-
-
3Gain-
ARHGEF28-
-
-
-
3Gain-
ARHGEF37-
-
-
-
3Gain-
ARHGEF40-
-
-
-
3Gain-
ARID1Ap.R1461*
Nonsense
SNP
0.513
2--
ARID2-
-
-
-
3Gain-
ARID4A-
-
-
-
3Gain-
ARL1-
-
-
-
3Gain-
ARL10-
-
-
-
3Gain-
ARL13Bp.C158Y
Missense
SNP
0.472
2--
ARL14EPL-
-
-
-
3Gain-
ARL15-
-
-
-
3Gain-
ARL17A-
-
-
-
1Loss-
ARL17B-
-
-
-
1Loss-
ARL6IP4-
-
-
-
3Gain-
ARMC3p.R449C
Missense
SNP
0.435
2--
ARMH4-
-
-
-
3Gain-
ARNTL2-
-
-
-
3Gain-
ARPC3-
-
-
-
3Gain-
ARRDC3-
-
-
-
3Gain-
ARSB-
-
-
-
3Gain-
ARSI-
-
-
-
3Gain-
ARSK-
-
-
-
3Gain-
ART4-
-
-
-
3Gain-
ASB2-
-
-
-
3Gain-
ASB3-
-
-
-
1Loss-
ASB8-
-
-
-
3Gain-
ASCL1-
-
-
-
3Gain-
ASCL4-
-
-
-
3Gain-
ASIC1-
-
-
-
3Gain-
ASPG-
-
-
-
3Gain-
ATF1-
-
-
-
3Gain-
ATF7-
-
-
-
3Gain-
ATF7IP-
-
-
-
3Gain-
ATG10-
-
-
-
3Gain-
ATG101-
-
-
-
3Gain-
ATG12-
-
-
-
3Gain-
ATG14-
-
-
-
3Gain-
ATG2B-
-
-
-
3Gain-
ATL1-
-
-
-
3Gain-
ATN1-
-
-
-
3Gain-
ATOX1-
-
-
-
3Gain-
ATP10B-
-
-
-
3Gain-
ATP23-
-
-
-
3Gain-
ATP2A2-
-
-
-
3Gain-
ATP2B1-
-
-
-
3Gain-
ATP2B2p.G668V
Missense
SNP
0.512
2--
ATP5F1B-
-
-
-
3Gain-
ATP5MC2-
-
-
-
3Gain-
ATP5MPL-
-
-
-
3Gain-
ATP5S-
-
-
-
3Gain-
ATP6AP1L-
-
-
-
3Gain-
ATP6V0A2-
-
-
-
3Gain-
ATP6V0E1-
-
-
-
3Gain-
ATP6V1D-
-
-
-
3Gain-
ATP6V1E2-
-
-
-
1Loss-
ATP9Ap.A1008T
Missense
SNP
0.371
2--
ATXN2-
-
-
-
3Gain-
ATXN3-
-
-
-
3Gain-
ATXN7L3B-
-
-
-
3Gain-
AVIL-
-
-
-
3Gain-
AVPR1A-
-
-
-
3Gain-
AXDND1p.R318H
Missense
SNP
0.455
2--
B3GALT6p.R162W
Missense
SNP
0.489
2--
B3GNT4-
-
-
-
3Gain-
B4GALNT1-
-
-
-
3Gain-
B4GALNT3-
-
-
-
3Gain-
B4GALT7-
-
-
-
3Gain-
BAG5-
-
-
-
3Gain-
BASP1-
-
-
-
3Gain-
BATF-
-
-
-
3Gain-
BAZ1A-
-
-
-
3Gain-
BAZ2A-
-
-
-
3Gain-
BBOF1-
-
-
-
3Gain-
BBS10-
-
-
-
3Gain-
BCAS4p.R197H
Missense
SNP
0.486
2--
BCAT1-
-
-
-
3Gain-
BCDIN3D-
-
-
-
3Gain-
BCL11B-
-
-
-
3Gain-
BCL2L14-
-
-
-
3Gain-
BCL2L2-
-
-
-
3Gain-
BCL2L2-PABPN1-
-
-
-
3Gain-
BCL7A-
-
-
-
3Gain-
BDKRB1-
-
-
-
3Gain-
BDKRB2-
-
-
-
3Gain-
BDP1-
-
-
-
3Gain-
BEGAIN-
-
-
-
3Gain-
BEST3p.R126M
Missense
SNP
0.333
3Gain-
BHLHE41-
-
-
-
3Gain-
BHMT-
-
-
-
3Gain-
BHMT2-
-
-
-
3Gain-
BICC1p.L517I
Missense
SNP
0.521
2--
BICD1-
-
-
-
3Gain-
BICD2p.A513T
Missense
SNP
0.357
2--
BICDL1-
-
-
-
3Gain-
BIN2-
-
-
-
3Gain-
BLOC1S1-
-
-
-
3Gain-
BLOC1S1-RDH5-
-
-
-
3Gain-
BMP4-
-
-
-
3Gain-
BNC1p.R973Q
Missense
SNP
0.469
2--
BNIP1-
-
-
-
3Gain-
BOD1-
-
-
-
3Gain-
BORCS5-
-
-
-
3Gain-
BPIp.A114T
Missense
SNP
0.528
2--
BRAP-
-
-
-
3Gain-
BRCA2p.R3384*
Nonsense
SNP
0.482
2--
BRD8-
-
-
-
3Gain-
BRD9-
-
-
-
3Gain-
BRF1-
-
-
-
3Gain-
BRI3BP-
-
-
-
3Gain-
BRIX1-
-
-
-
3Gain-
BRMS1L-
-
-
-
3Gain-
BTBD11-
-
-
-
3Gain-
BTBD6-
-
-
-
3Gain-
BTBD7-
-
-
-
3Gain-
BTF3-
-
-
-
3Gain-
BTG1-
-
-
-
3Gain-
BTNL3-
-
-
-
3Gain-
BTNL8-
-
-
-
3Gain-
BTNL9-
-
-
-
3Gain-
C10orf90p.A138V
Missense
SNP
0.475
2--
C11orf95p.R619C
Missense
SNP
0.470
2--
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-
C14orf119-
-
-
-
3Gain-
C14orf132-
-
-
-
3Gain-
C14orf177-
-
-
-
3Gain-
C14orf178-
-
-
-
3Gain-
C14orf180-
-
-
-
3Gain-
C14orf28-
-
-
-
3Gain-
C14orf39-
-
-
-
3Gain-
C14orf93-
-
-
-
3Gain-
C1GALT1C1L-
-
-
-
1Loss-
C1QL4-
-
-
-
3Gain-
C1QTNF2-
-
-
-
3Gain-
C1QTNF3-
-
-
-
3Gain-
C1QTNF3-AMACR-
-
-
-
3Gain-
C1R-
-
-
-
3Gain-
C1RL-
-
-
-
3Gain-
C1S-
-
-
-
3Gain-
C2CD5p.V802D
Missense
SNP
0.411
3Gain-
C3AR1-
-
-
-
3Gain-
C4B-
-
-
-
1Loss-
C5orf15-
-
-
-
3Gain-
C5orf22-
-
-
-
3Gain-
C5orf24-
-
-
-
3Gain-
C5orf30-
-
-
-
3Gain-
C5orf34-
-
-
-
3Gain-
C5orf38-
-
-
-
3Gain-
C5orf46-
-
-
-
3Gain-
C5orf47-
-
-
-
3Gain-
C5orf49-
-
-
-
3Gain-
C5orf51-
-
-
-
3Gain-
C5orf52-
-
-
-
3Gain-
C5orf58-
-
-
-
3Gain-
C5orf60-
-
-
-
3Gain-
C5orf63-
-
-
-
3Gain-
C5orf67-
-
-
-
3Gain-
C6-
-
-
-
3Gain-
C7-
-
-
-
3Gain-
C7orf26p.N382S
Missense
SNP
0.466
2--
C9-
-
-
-
3Gain-
C9orf131p.Q503*
Nonsense
SNP
0.506
2--
CABP1-
-
-
-
3Gain-
CACNA1C-
-
-
-
3Gain-
CACNA2D4-
-
-
-
3Gain-
CACNB3-
-
-
-
3Gain-
CALCOCO1-
-
-
-
3Gain-
CALCOCO2p.R150H
Missense
SNP
0.379
2--
CALM1-
-
-
-
3Gain-
CALM2-
-
-
-
1Loss-
CAMK2A-
-
-
-
3Gain-
CAMK4-
-
-
-
3Gain-
CAMKK2-
-
-
-
3Gain-
CAMKMT-
-
-
-
1Loss-
CAMLG-
-
-
-
3Gain-
CAND1-
-
-
-
3Gain-
CANX-
-
-
-
3Gain-
CAPN12p.R94H
Missense
SNP
0.442
2--
CAPRIN2-
-
-
-
3Gain-
CAPS2-
-
-
-
3Gain-
CAPSL-
-
-
-
3Gain-
CAPZA3-
-
-
-
3Gain-
CARD6-
-
-
-
3Gain-
CARMIL3-
-
-
-
3Gain-
CARTPT-
-
-
-
3Gain-
CASC1-
-
-
-
3Gain-
CASRp.G440V
p.T898M
Missense
Missense
SNP
SNP
0.434
0.513
2--
CAST-
-
-
-
3Gain-
CATSPER2-
-
-
-
1Loss-
CATSPER3-
-
-
-
3Gain-
CATSPERB-
-
-
-
3Gain-
CBLp.R206*
Nonsense
SNP
0.408
2--
CBLCp.V247A
Missense
SNP
0.528
2--
CBLN3-
-
-
-
3Gain-
CBX5-
-
-
-
3Gain-
CBY3-
-
-
-
3Gain-
CCDC110p.R111C
Missense
SNP
0.324
2--
CCDC112-
-
-
-
3Gain-
CCDC125-
-
-
-
3Gain-
CCDC127-
-
-
-
3Gain-
CCDC152-
-
-
-
3Gain-
CCDC175-
-
-
-
3Gain-
CCDC184-
-
-
-
3Gain-
CCDC197-
-
-
-
3Gain-
CCDC198-
-
-
-
3Gain-
CCDC38-
-
-
-
3Gain-
CCDC59-
-
-
-
3Gain-
CCDC60-
-
-
-
3Gain-
CCDC62-
-
-
-
3Gain-
CCDC63-
-
-
-
3Gain-
CCDC65-
-
-
-
3Gain-
CCDC69-
-
-
-
3Gain-
CCDC77-
-
-
-
3Gain-
CCDC85C-
-
-
-
3Gain-
CCDC88C-
-
-
-
3Gain-
CCDC91-
-
-
-
3Gain-
CCDC92-
-
-
-
3Gain-
CCER1-
-
-
-
3Gain-
CCL28-
-
-
-
3Gain-
CCNB1-
-
-
-
3Gain-
CCNB1IP1-
-
-
-
3Gain-
CCND2-
-
-
-
3Gain-
CCNG1-
-
-
-
3Gain-
CCNH-
-
-
-
3Gain-
CCNI2-
-
-
-
3Gain-
CCNJL-
-
-
-
3Gain-
CCNK-
-
-
-
3Gain-
CCNL2p.R434H
Missense
SNP
0.452
2--
CCNO-
-
-
-
3Gain-
CCNT1-
-
-
-
3Gain-
CCNT2p.S582G
Missense
SNP
0.543
2--
CCT2-
-
-
-
3Gain-
CCT5-
-
-
-
3Gain-
CD14-
-
-
-
3Gain-
CD163-
-
-
-
3Gain-
CD163L1-
-
-
-
3Gain-
CD180-
-
-
-
3Gain-
CD1Ap.R279Q
Missense
SNP
0.564
2--
CD27-
-
-
-
3Gain-
CD4-
-
-
-
3Gain-
CD63-
-
-
-
3Gain-
CD69-
-
-
-
3Gain-
CD74-
-
-
-
3Gain-
CD9-
-
-
-
3Gain-
CDC20B-
-
-
-
3Gain-
CDC23-
-
-
-
3Gain-
CDC25C-
-
-
-
3Gain-
CDC42BPB-
-
-
-
3Gain-
CDC42SE2-
-
-
-
3Gain-
CDCA3-
-
-
-
3Gain-
CDCA4-
-
-
-
3Gain-
CDH10-
-
-
-
3Gain-
CDH12-
-
-
-
3Gain-
CDH18-
-
-
-
3Gain-
CDH24-
-
-
-
3Gain-
CDH6-
-
-
-
3Gain-
CDH9-
-
-
-
3Gain-
CDHR2-
-
-
-
3Gain-
CDK17-
-
-
-
3Gain-
CDK2-
-
-
-
3Gain-
CDK2AP1-
-
-
-
3Gain-
CDK4-
-
-
-
3Gain-
CDK7-
-
-
-
3Gain-
CDKL1-
-
-
-
3Gain-
CDKL3-
-
-
-
3Gain-
CDKN1B-
-
-
-
3Gain-
CDKN2AIPNL-
-
-
-
3Gain-
CDKN3-
-
-
-
3Gain-
CDO1-
-
-
-
3Gain-
CDX1-
-
-
-
3Gain-
CEBPE-
-
-
-
3Gain-
CELA1-
-
-
-
3Gain-
CENPCp.S778L
Missense
SNP
0.456
2--
CENPFp.R2702W
Missense
SNP
0.523
2--
CENPH-
-
-
-
3Gain-
CENPK-
-
-
-
3Gain-
CEP120-
-
-
-
3Gain-
CEP128-
-
-
-
4Gain-
CEP170B-
-
-
-
3Gain-
CEP290-
-
-
-
3Gain-
CEP72-
-
-
-
3Gain-
CEP83-
-
-
-
3Gain-
CERS5-
-
-
-
3Gain-
CETN3p.R125C
Missense
SNP
0.690
3Gain-
CFAP54-
-
-
-
3Gain-
CFAP73-
-
-
-
3Gain-
CFL2-
-
-
-
3Gain-
CGRRF1-
-
-
-
3Gain-
CHAC2-
-
-
-
1Loss-
CHD1-
-
-
-
3Gain-
CHD4-
-
-
-
3Gain-
CHD5p.V220I
Missense
SNP
0.514
2--
CHD7p.A2663V
Missense
SNP
0.452
2--
CHD8-
-
-
-
3Gain-
CHFR-
-
-
-
3Gain-
CHGA-
-
-
-
3Gain-
CHMP4A-
-
-
-
3Gain-
CHPFp.D424N
Missense
SNP
0.484
2--
CHPT1-
-
-
-
3Gain-
CHRNB4p.R415L
Missense
SNP
0.394
2--
CHST11-
-
-
-
3Gain-
CHSY1p.Y594H
Missense
SNP
0.426
2--
CHSY3-
-
-
-
3Gain-
CHURC1-
-
-
-
3Gain-
CHURC1-FNTB-
-
-
-
3Gain-
CIDEB-
-
-
-
3Gain-
CINP-
-
-
-
3Gain-
CIPC-
-
-
-
3Gain-
CIT-
-
-
-
3Gain-
CKAP4-
-
-
-
3Gain-
CKB-
-
-
-
3Gain-
CKMT1A-
-
-
-
1Loss-
CKMT1B-
-
-
-
1Loss-
CKMT2-
-
-
-
3Gain-
CLBA1-
-
-
-
3Gain-
CLEC12A-
-
-
-
3Gain-
CLEC12B-
-
-
-
3Gain-
CLEC14A-
-
-
-
3Gain-
CLEC1A-
-
-
-
3Gain-
CLEC1B-
-
-
-
3Gain-
CLEC2A-
-
-
-
3Gain-
CLEC2B-
-
-
-
3Gain-
CLEC2D-
-
-
-
3Gain-
CLEC3Bp.A150T
p.A153T
Missense
Missense
SNP
SNP
0.492
0.508
2--
CLEC4A-
-
-
-
3Gain-
CLEC4C-
-
-
-
3Gain-
CLEC4D-
-
-
-
3Gain-
CLEC4E-
-
-
-
3Gain-
CLEC6A-
-
-
-
3Gain-
CLEC7A-
-
-
-
3Gain-
CLEC9A-
-
-
-
3Gain-
CLECL1-
-
-
-
3Gain-
CLINT1-
-
-
-
3Gain-
CLIP1-
-
-
-
3Gain-
CLK4-
-
-
-
3Gain-
CLLU1OS-
-
-
-
3Gain-
CLMN-
-
-
-
3Gain-
CLPTM1L-
-
-
-
3Gain-
CLSTN3-
-
-
-
3Gain-
CLTB-
-
-
-
3Gain-
CMA1-
-
-
-
3Gain-
CMAS-
-
-
-
3Gain-
CMBL-
-
-
-
3Gain-
CMKLR1-
-
-
-
3Gain-
CMTM5-
-
-
-
3Gain-
CMYA5-
-
-
-
3Gain-
CNIH1-
-
-
-
3Gain-
CNOT2-
-
-
-
3Gain-
CNOT6-
-
-
-
3Gain-
CNOT8-
-
-
-
3Gain-
CNPY2-
-
-
-
3Gain-
CNTN1-
-
-
-
3Gain-
CNTN4p.G473V
p.I864N
Missense
Missense
SNP
SNP
0.495
0.476
2--
COBLL1p.R1041H
Missense
SNP
0.116
2--
COCH-
-
-
-
3Gain-
COL11A1-
-
-
-
3Gain-
COL23A1-
-
-
-
3Gain-
COL2A1p.V695M
Missense
SNP
0.323
3Gain-
COL4A3BP-
-
-
-
3Gain-
COMMD10-
-
-
-
3Gain-
COPS7A-
-
-
-
3Gain-
COPZ1-
-
-
-
3Gain-
COQ10A-
-
-
-
3Gain-
COQ5-
-
-
-
3Gain-
COQ6-
-
-
-
3Gain-
CORO1C-
-
-
-
3Gain-
COX14-
-
-
-
3Gain-
COX16-
-
-
-
3Gain-
COX6A1-
-
-
-
3Gain-
COX7C-
-
-
-
3Gain-
COX8C-
-
-
-
3Gain-
CPEB4-
-
-
-
3Gain-
CPLANE1-
-
-
-
3Gain-
CPLX2-
-
-
-
3Gain-
CPM-
-
-
-
3Gain-
CPNE6-
-
-
-
3Gain-
CPNE8-
-
-
-
3Gain-
CPSF2-
-
-
-
3Gain-
CPSF6-
-
-
-
3Gain-
CRACR2A-
-
-
-
3Gain-
CRADD-
-
-
-
3Gain-
CREBL2-
-
-
-
3Gain-
CREBRF-
-
-
-
3Gain-
CRHBP-
-
-
-
3Gain-
CRIP1-
-
-
-
3Gain-
CRIP2-
-
-
-
3Gain-
CRIPT-
-
-
-
1Loss-
CRY1-
-
-
-
3Gain-
CRYZL1p.K344R
Missense
SNP
0.514
2--
CS-
-
-
-
3Gain-
CSAD-
-
-
-
3Gain-
CSF1R-
-
-
-
3Gain-
CSF2-
-
-
-
3Gain-
CSNK1A1-
-
-
-
3Gain-
CSNK1G3-
-
-
-
3Gain-
CSRNP2-
-
-
-
3Gain-
CSRP2-
-
-
-
3Gain-
CTAG2p.R52S
Missense
SNP
1.000
NDND-
CTDSP2-
-
-
-
3Gain-
CTNNA1-
-
-
-
3Gain-
CTNND1p.R354H
Missense
SNP
0.519
2--
CTNND2-
-
-
-
3Gain-
CTSAp.S288F
Missense
SNP
0.487
2--
CTSG-
-
-
-
3Gain-
CTXN3-
-
-
-
3Gain-
CUX2-
-
-
-
3Gain-
CWC27-
-
-
-
3Gain-
CXCL14-
-
-
-
3Gain-
CXXC5-
-
-
-
3Gain-
CYFIP2-
-
-
-
3Gain-
CYP27B1-
-
-
-
3Gain-
CYP2S1p.R362L
Missense
SNP
0.478
2--
CYP46A1-
-
-
-
3Gain-
CYP7A1p.A50V
Missense
SNP
0.500
2--
CYSTM1-
-
-
-
3Gain-
DAAM1-
-
-
-
3Gain-
DAB2-
-
-
-
3Gain-
DACT1-
-
-
-
3Gain-
DAD1-
-
-
-
3Gain-
DAO-
-
-
-
3Gain-
DAP-
-
-
-
3Gain-
DAZAP2-
-
-
-
3Gain-
DBN1-
-
-
-
3Gain-
DBX2-
-
-
-
3Gain-
DCAF11-
-
-
-
3Gain-
DCAF4-
-
-
-
3Gain-
DCAF5-
-
-
-
3Gain-
DCANP1-
-
-
-
3Gain-
DCD-
-
-
-
3Gain-
DCN-
-
-
-
3Gain-
DCP1B-
-
-
-
3Gain-
DCP2-
-
-
-
3Gain-
DCTN2-
-
-
-
3Gain-
DCTN4-
-
-
-
3Gain-
DCXp.T169M
Missense
SNP
1.000
NDND-
DDHD1p.M488I
Missense
SNP
0.700
3Gain-
DDIT3-
-
-
-
3Gain-
DDN-
-
-
-
3Gain-
DDX11-
-
-
-
3Gain-
DDX23-
-
-
-
3Gain-
DDX24-
-
-
-
3Gain-
DDX4-
-
-
-
3Gain-
DDX41-
-
-
-
3Gain-
DDX43p.R539I
Missense
SNP
0.465
2--
DDX46-
-
-
-
3Gain-
DDX47-
-
-
-
3Gain-
DDX51-
-
-
-
3Gain-
DDX54-
-
-
-
3Gain-
DDX55-
-
-
-
3Gain-
DEGS2-
-
-
-
3Gain-
DELE1-
-
-
-
3Gain-
DENND5B-
-
-
-
3Gain-
DENR-
-
-
-
3Gain-
DEPDC1B-
-
-
-
3Gain-
DEPDC4-
-
-
-
3Gain-
DERA-
-
-
-
3Gain-
DGKA-
-
-
-
3Gain-
DGLUCY-
-
-
-
3Gain-
DHFR-
-
-
-
3Gain-
DHH-
-
-
-
3Gain-
DHRS1-
-
-
-
3Gain-
DHRS2-
-
-
-
3Gain-
DHRS4-
-
-
-
3Gain-
DHRS4L2-
-
-
-
3Gain-
DHRS7-
-
-
-
3Gain-
DHX29-
-
-
-
3Gain-
DHX34p.R1000W
Missense
SNP
0.385
2--
DHX37-
-
-
-
3Gain-
DIABLO-
-
-
-
3Gain-
DIAPH1-
-
-
-
3Gain-
DICER1-
-
-
-
3Gain-
DIMT1-
-
-
-
3Gain-
DIO2-
-
-
-
4Gain-
DIO3-
-
-
-
3Gain-
DIP2B-
-
-
-
3Gain-
DLGAP3p.D250Y
Missense
SNP
0.553
2--
DLGAP5-
-
-
-
3Gain-
DLK1-
-
-
-
3Gain-
DLST-
-
-
-
3Gain-
DMBT1p.C1002F
Missense
SNP
0.250
2--
DMGDH-
-
-
-
3Gain-
DMRT3p.G211R
Missense
SNP
0.447
2--
DMXL1-
-
-
-
3Gain-
DNAAF2-
-
-
-
3Gain-
DNAH10-
-
-
-
3Gain-
DNAH5-
-
-
-
3Gain-
DNAJC14-
-
-
-
3Gain-
DNAJC18-
-
-
-
3Gain-
DNAJC21-
-
-
-
3Gain-
DNAJC22-
-
-
-
3Gain-
DNAL1-
-
-
-
3Gain-
DND1-
-
-
-
3Gain-
DNM1L-
-
-
-
3Gain-
DOCK11p.S1372G
Missense
SNP
0.707
NDND-
DOCK2-
-
-
-
3Gain-
DOCK3p.R506H
Missense
SNP
0.614
2--
DOK3-
-
-
-
3Gain-
DPF3-
-
-
-
3Gain-
DPPA3-
-
-
-
3Gain-
DPY19L2-
-
-
-
3Gain-
DPYSL3-
-
-
-
3Gain-
DRAM1-
-
-
-
3Gain-
DRD1-
-
-
-
3Gain-
DRICH1p.E198D
Missense
SNP
0.508
2--
DROSHA-
-
-
-
3Gain-
DSCAMp.T317A
Missense
SNP
0.203
2--
DSCAML1p.R559*
Nonsense
SNP
0.541
2--
DTD2-
-
-
-
3Gain-
DTWD2-
-
-
-
3Gain-
DTX1-
-
-
-
3Gain-
DTX3-
-
-
-
3Gain-
DUS1Lp.R356W
Missense
SNP
0.410
2--
DUSP1-
-
-
-
3Gain-
DUSP16-
-
-
-
3Gain-
DUSP6-
-
-
-
3Gain-
DVL1p.P525Q
Missense
SNP
0.145
2--
DYNC1H1-
-
-
-
3Gain-
DYNC2LI1-
-
-
-
1Loss-
DYNLL1-
-
-
-
3Gain-
DYRK2-
-
-
-
3Gain-
DYRK4-
-
-
-
3Gain-
E2F7-
-
-
-
3Gain-
EAPP-
-
-
-
3Gain-
EBF1-
-
-
-
3Gain-
ECE2p.R304H
Missense
SNP
0.441
2--
ECSCR-
-
-
-
3Gain-
EDDM3A-
-
-
-
3Gain-
EDDM3B-
-
-
-
3Gain-
EDIL3-
-
-
-
3Gain-
EEA1-
-
-
-
3Gain-
EEF1AKMT3-
-
-
-
3Gain-
EEF2p.L561P
Missense
SNP
0.103
2--
EFCAB11-
-
-
-
3Gain-
EFCAB9-
-
-
-
3Gain-
EFNA5-
-
-
-
3Gain-
EFS-
-
-
-
3Gain-
EGFLAM-
-
-
-
3Gain-
EGLN3-
-
-
-
3Gain-
EGR1-
-
-
-
3Gain-
EHD2p.A179T
Missense
SNP
0.488
2--
EID3-
-
-
-
3Gain-
EIF2B1-
-
-
-
3Gain-
EIF2B2-
-
-
-
3Gain-
EIF2S1-
-
-
-
3Gain-
EIF2S3B-
-
-
-
3Gain-
EIF4B-
-
-
-
3Gain-
EIF4E1B-
-
-
-
3Gain-
EIF4EBP3-
-
-
-
3Gain-
EIF4G3p.T1152M
Missense
SNP
0.412
2--
EIF5-
-
-
-
3Gain-
ELFN2p.E95D
Missense
SNP
0.406
2--
ELK3-
-
-
-
3Gain-
ELL2-
-
-
-
3Gain-
ELMSAN1-
-
-
-
3Gain-
ELOVL7-
-
-
-
3Gain-
EMB-
-
-
-
3Gain-
EMC9-
-
-
-
3Gain-
EMG1-
-
-
-
3Gain-
EML1-
-
-
-
3Gain-
EML3p.V573M
Missense
SNP
0.106
2--
EML5-
-
-
-
3Gain-
EMP1-
-
-
-
3Gain-
ENC1-
-
-
-
3Gain-
ENDOU-
-
-
-
3Gain-
ENO2-
-
-
-
3Gain-
ENTPD1p.A371T
Missense
SNP
0.388
2--
ENTPD5-
-
-
-
3Gain-
EP400-
-
-
-
3Gain-
EPAS1-
-
-
-
1Loss-
EPB41L4A-
-
-
-
3Gain-
EPCAM-
-
-
-
1Loss-
EPS8-
-
-
-
3Gain-
EPYC-
-
-
-
3Gain-
ERAP1-
-
-
-
3Gain-
ERAP2-
-
-
-
3Gain-
ERBB3-
-
-
-
3Gain-
ERBIN-
-
-
-
3Gain-
ERC1-
-
-
-
3Gain-
ERCC5p.A459V
Missense
SNP
0.423
2--
ERCC8-
-
-
-
3Gain-
ERG28-
-
-
-
3Gain-
ERGIC1-
-
-
-
3Gain-
ERGIC2-
-
-
-
3Gain-
ERH-
-
-
-
3Gain-
ERO1A-
-
-
-
3Gain-
ERP27-
-
-
-
3Gain-
ERP29-
-
-
-
3Gain-
ESM1-
-
-
-
3Gain-
ESPL1-
-
-
-
3Gain-
ESPNp.R795W
Missense
SNP
0.526
2--
ESR2-
-
-
-
3Gain-
ESRRB-
-
-
-
3Gain-
ESYT1-
-
-
-
3Gain-
ETF1-
-
-
-
3Gain-
ETFBKMT-
-
-
-
3Gain-
ETFRF1-
-
-
-
3Gain-
ETNK1-
-
-
-
3Gain-
ETV6-
-
-
-
3Gain-
EVL-
-
-
-
3Gain-
EXD2-
-
-
-
3Gain-
EXOC3-
-
-
-
3Gain-
EXOC3L4-
-
-
-
3Gain-
EXOC5-
-
-
-
3Gain-
F12-
-
-
-
3Gain-
F2R-
-
-
-
3Gain-
F2RL1-
-
-
-
3Gain-
F2RL2-
-
-
-
3Gain-
FABP6-
-
-
-
3Gain-
FAF2-
-
-
-
3Gain-
FAIM2-
-
-
-
3Gain-
FAM114A2-
-
-
-
3Gain-
FAM13B-
-
-
-
3Gain-
FAM151B-
-
-
-
3Gain-
FAM153A-
-
-
-
3Gain-
FAM153B-
-
-
-
3Gain-
FAM153C-
-
-
-
3Gain-
FAM161B-
-
-
-
3Gain-
FAM169A-
-
-
-
3Gain-
FAM170A-
-
-
-
3Gain-
FAM172A-
-
-
-
3Gain-
FAM173B-
-
-
-
3Gain-
FAM174A-
-
-
-
3Gain-
FAM177A1-
-
-
-
3Gain-
FAM181A-
-
-
-
3Gain-
FAM186A-
-
-
-
3Gain-
FAM186B-
-
-
-
3Gain-
FAM193B-
-
-
-
3Gain-
FAM196Ap.A92T
Missense
SNP
0.434
NDND-
FAM19A2-
-
-
-
3Gain-
FAM216A-
-
-
-
3Gain-
FAM222A-
-
-
-
3Gain-
FAM234B-
-
-
-
3Gain-
FAM53C-
-
-
-
3Gain-
FAM71B-
-
-
-
3Gain-
FAM71C-
-
-
-
3Gain-
FAM71D-
-
-
-
3Gain-
FAM81B-
-
-
-
3Gain-
FANCM-
-
-
-
3Gain-
FAR2-
-
-
-
3Gain-
FASTKD3-
-
-
-
3Gain-
FAT2p.R736H
Missense
SNP
0.337
3Gain-
FAXDC2-
-
-
-
3Gain-
FBLN5-
-
-
-
3Gain-
FBN2-
-
-
-
3Gain-
FBRSL1-
-
-
-
3Gain-
FBXL14-
-
-
-
3Gain-
FBXL17-
-
-
-
3Gain-
FBXL18p.R403H
Missense
SNP
0.491
2--
FBXL7-
-
-
-
3Gain-
FBXO11-
-
-
-
1Loss-
FBXO21-
-
-
-
3Gain-
FBXO33-
-
-
-
3Gain-
FBXO34-
-
-
-
3Gain-
FBXO38-
-
-
-
3Gain-
FBXO4-
-
-
-
3Gain-
FBXW11-
-
-
-
3Gain-
FBXW8-
-
-
-
3Gain-
FCF1-
-
-
-
3Gain-
FCHO2-
-
-
-
3Gain-
FCHSD1-
-
-
-
3Gain-
FEM1C-
-
-
-
3Gain-
FER-
-
-
-
3Gain-
FERMT2-
-
-
-
3Gain-
FGD4-
-
-
-
3Gain-
FGD6-
-
-
-
3Gain-
FGF1-
-
-
-
3Gain-
FGF10-
-
-
-
3Gain-
FGF18-
-
-
-
3Gain-
FGF23-
-
-
-
3Gain-
FGF6-
-
-
-
3Gain-
FGFR1OP2-
-
-
-
3Gain-
FGFR4p.G176S
Missense
SNP
0.134
3Gain-
FICD-
-
-
-
3Gain-
FIGNL2-
-
-
-
3Gain-
FITM1-
-
-
-
3Gain-
FKBP11-
-
-
-
3Gain-
FKBP3-
-
-
-
3Gain-
FKBP4-
-
-
-
3Gain-
FLRT2-
-
-
-
4Gain-
FLT4-
-
-
-
3Gain-
FLVCR2-
-
-
-
3Gain-
FMN2p.H801N
Missense
SNP
0.562
2--
FMNL3-
-
-
-
3Gain-
FNDC9-
-
-
-
3Gain-
FNIP1-
-
-
-
3Gain-
FNTB-
-
-
-
3Gain-
FOS-
-
-
-
3Gain-
FOXA1-
-
-
-
3Gain-
FOXD1-
-
-
-
3Gain-
FOXG1-
-
-
-
3Gain-
FOXI1p.V153M
Missense
SNP
0.403
3Gain-
FOXJ2-
-
-
-
3Gain-
FOXK2p.A608T
Missense
SNP
0.481
2--
FOXM1-
-
-
-
3Gain-
FOXN2-
-
-
-
1Loss-
FOXN3-
-
-
-
3Gain-
FOXN4-
-
-
-
3Gain-
FRMD6-
-
-
-
3Gain-
FRS2-
-
-
-
3Gain-
FSCB-
-
-
-
3Gain-
FSHR-
-
-
-
1Loss-
FST-
-
-
-
3Gain-
FSTL4-
-
-
-
3Gain-
FTMT-
-
-
-
3Gain-
FUT8-
-
-
-
3Gain-
FYB1-
-
-
-
3Gain-
FZD10-
-
-
-
3Gain-
G2E3-
-
-
-
3Gain-
G3BP1-
-
-
-
3Gain-
GABARAPL1-
-
-
-
3Gain-
GABRA1-
-
-
-
3Gain-
GABRA6-
-
-
-
3Gain-
GABRB2-
-
-
-
3Gain-
GABRG2-
-
-
-
3Gain-
GABRP-
-
-
-
3Gain-
GALC-
-
-
-
3Gain-
GALNT10-
-
-
-
3Gain-
GALNT14p.R177H
Missense
SNP
0.527
2--
GALNT16-
-
-
-
3Gain-
GALNT6-
-
-
-
3Gain-
GALNT8-
-
-
-
3Gain-
GALNT9-
-
-
-
3Gain-
GAPDH-
-
-
-
3GainGAPDHP17--GAPDH
GAPDHP17-
-
-
-
NDNDGAPDHP17--GAPDH
GAPT-
-
-
-
3Gain-
GAS2L3-
-
-
-
3Gain-
GATC-
-
-
-
3Gain-
GCH1-
-
-
-
3Gain-
GCN1-
-
-
-
3Gain-
GCNT4-
-
-
-
3Gain-
GDF11-
-
-
-
3Gain-
GDF3-
-
-
-
3Gain-
GDF6p.R46H
Missense
SNP
0.433
2--
GDF9-
-
-
-
3Gain-
GDNF-
-
-
-
3Gain-
GEMIN2-
-
-
-
3Gain-
GEMIN5-
-
-
-
3Gain-
GFM2-
-
-
-
3Gain-
GFPT2-
-
-
-
3Gain-
GFRA3-
-
-
-
3Gain-
GHR-
-
-
-
3Gain-
GIN1-
-
-
-
3Gain-
GIT1p.R670W
Missense
SNP
0.365
2--
GIT2-
-
-
-
3Gain-
GLI1-
-
-
-
3Gain-
GLIPR1-
-
-
-
3Gain-
GLIPR1L1-
-
-
-
3Gain-
GLIPR1L2-
-
-
-
3Gain-
GLRA1-
-
-
-
3Gain-
GLRX-
-
-
-
3Gain-
GLRX5-
-
-
-
3Gain-
GLS2-
-
-
-
3Gain-
GLT1D1-
-
-
-
3Gain-
GLT8D2-
-
-
-
3Gain-
GLTP-
-
-
-
3Gain-
GM2A-
-
-
-
3Gain-
GMCL2-
-
-
-
3Gain-
GMFB-
-
-
-
3Gain-
GMPR2-
-
-
-
3Gain-
GNB3-
-
-
-
3Gain-
GNG2-
-
-
-
3Gain-
GNPDA1-
-
-
-
3Gain-
GNPNAT1-
-
-
-
3Gain-
GNPTABp.R674H
Missense
SNP
0.667
3Gain-
GNS-
-
-
-
3Gain-
GOLGA3-
-
-
-
3Gain-
GOLGA5-
-
-
-
3Gain-
GOLPH3-
-
-
-
3Gain-
GOLT1B-
-
-
-
3Gain-
GON7-
-
-
-
3Gain-
GPAMp.R108H
Missense
SNP
0.494
2--
GPATCH1p.A809T
Missense
SNP
0.540
2--
GPATCH2L-
-
-
-
3Gain-
GPBP1-
-
-
-
3Gain-
GPD1-
-
-
-
3Gain-
GPHB5-
-
-
-
3Gain-
GPHN-
-
-
-
3Gain-
GPN3-
-
-
-
3Gain-
GPR132-
-
-
-
3Gain-
GPR135-
-
-
-
3Gain-
GPR137C-
-
-
-
3Gain-
GPR150-
-
-
-
3Gain-
GPR151-
-
-
-
3Gain-
GPR162-
-
-
-
3Gain-
GPR182-
-
-
-
3Gain-
GPR19-
-
-
-
3Gain-
GPR33-
-
-
-
3Gain-
GPR65-
-
-
-
3Gain-
GPR68-
-
-
-
3Gain-
GPR75-ASB3-
-
-
-
1Loss-
GPR84-
-
-
-
3Gain-
GPRC5A-
-
-
-
3Gain-
GPRC5D-
-
-
-
3Gain-
GPRIN1-
-
-
-
3Gain-
GPX2-
-
-
-
3Gain-
GPX3-
-
-
-
3Gain-
GPX8-
-
-
-
3Gain-
GRAMD2B-
-
-
-
3Gain-
GRASP-
-
-
-
3Gain-
GRIA1-
-
-
-
3Gain-
GRIK2p.R874W
Missense
SNP
0.460
2--
GRIN2Ap.T1064M
Missense
SNP
0.458
2--
GRIN2Bp.A1337T
Missense
SNP
0.257
3Gain-
GRIP1-
-
-
-
3Gain-
GRK6-
-
-
-
3Gain-
GRM4p.R135H
Missense
SNP
0.441
2--
GRM6-
-
-
-
3Gain-
GRM7p.R516*
Nonsense
SNP
0.519
2--
GRPEL2-
-
-
-
3Gain-
GRXCR2-
-
-
-
3Gain-
GSC-
-
-
-
3Gain-
GSG1-
-
-
-
3Gain-
GSKIP-
-
-
-
3Gain-
GSTZ1-
-
-
-
3Gain-
GTF2A1-
-
-
-
4Gain-
GTF2A1L-
-
-
-
1Loss-
GTF2H2-
-
-
-
3Gain-
GTF2H2C-
-
-
-
3Gain-
GTF2H3-
-
-
-
3Gain-
GTSF1-
-
-
-
3Gain-
GUCY2C-
-
-
-
3Gain-
GXYLT1-
-
-
-
3Gain-
GYS2-
-
-
-
3Gain-
GZMA-
-
-
-
3Gain-
GZMB-
-
-
-
3Gain-
GZMH-
-
-
-
3Gain-
GZMK-
-
-
-
3Gain-
H1FNT-
-
-
-
3Gain-
H2AFJ-
-
-
-
3Gain-
H2AFY-
-
-
-
3Gain-
H3F3C-
-
-
-
3Gain-
HAL-
-
-
-
3Gain-
HAND1-
-
-
-
3Gain-
HAPLN1-
-
-
-
3Gain-
HARS-
-
-
-
3Gain-
HARS2-
-
-
-
3Gain-
HAUS4-
-
-
-
3Gain-
HAVCR1-
-
-
-
3Gain-
HAVCR2-
-
-
-
3Gain-
HBEGF-
-
-
-
3Gain-
HCAR1-
-
-
-
3Gain-
HCAR2-
-
-
-
3Gain-
HCAR3-
-
-
-
3Gain-
HCFC2-
-
-
-
3Gain-
HCN1-
-
-
-
3Gain-
HDAC3-
-
-
-
3Gain-
HDAC7-
-
-
-
3Gain-
HDGFL1p.D249N
Missense
SNP
0.512
2--
HEATR4-
-
-
-
3Gain-
HEATR5A-
-
-
-
3Gain-
HEBP1-
-
-
-
3Gain-
HECTD1-
-
-
-
3Gain-
HECTD4p.V1429F
Missense
SNP
0.225
3Gain-
HELB-
-
-
-
3Gain-
HELQp.S403G
Missense
SNP
0.203
2--
HEXB-
-
-
-
3Gain-
HHIPL1-
-
-
-
3Gain-
HIF1A-
-
-
-
3Gain-
HIGD1C-
-
-
-
3Gain-
HIGD2A-
-
-
-
3Gain-
HINT1-
-
-
-
3Gain-
HIP1R-
-
-
-
3Gain-
HIST4H4-
-
-
-
3Gain-
HK3-
-
-
-
3Gain-
HMGA2-
-
-
-
3Gain-
HMGCR-
-
-
-
3Gain-
HMGCS1-
-
-
-
3Gain-
HMGXB3-
-
-
-
3Gain-
HMHB1-
-
-
-
3Gain-
HMMR-
-
-
-
3Gain-
HNF1A-
-
-
-
3Gain-
HNRNPA0-
-
-
-
3Gain-
HNRNPA1-
-
-
-
3Gain-
HNRNPAB-
-
-
-
3Gain-
HNRNPC-
-
-
-
3Gain-
HNRNPH1-
-
-
-
3Gain-
HOMER1-
-
-
-
3Gain-
HOMEZ-
-
-
-
3Gain-
HOXC10-
-
-
-
3Gain-
HOXC11-
-
-
-
3Gain-
HOXC12-
-
-
-
3Gain-
HOXC13-
-
-
-
3Gain-
HOXC4-
-
-
-
3Gain-
HOXC5-
-
-
-
3Gain-
HOXC6-
-
-
-
3Gain-
HOXC8-
-
-
-
3Gain-
HOXC9-
-
-
-
3Gain-
HOXD4p.R182L
Missense
SNP
0.600
2--
HPD-
-
-
-
3Gain-
HRH2-
-
-
-
3Gain-
HRK-
-
-
-
3Gain-
HS3ST5p.R65C
Missense
SNP
0.452
2--
HSD17B4-
-
-
-
3Gain-
HSD17B6-
-
-
-
3Gain-
HSP90AA1-
-
-
-
3Gain-
HSP90B1-
-
-
-
3Gain-
HSPA2-
-
-
-
3Gain-
HSPA4-
-
-
-
3Gain-
HSPA9-
-
-
-
3Gain-
HSPB3-
-
-
-
3Gain-
HSPB8-
-
-
-
3Gain-
HTR1A-
-
-
-
3Gain-
HTR4-
-
-
-
3Gain-
HVCN1-
-
-
-
3Gain-
IAPP-
-
-
-
3Gain-
ICE1-
-
-
-
3Gain-
IFFO1-
-
-
-
3Gain-
IFI27-
-
-
-
3Gain-
IFI27L1-
-
-
-
3Gain-
IFI27L2-
-
-
-
3Gain-
IFNG-
-
-
-
3Gain-
IFT43-
-
-
-
3Gain-
IFT81-
-
-
-
3Gain-
IGF1-
-
-
-
3Gain-
IGFBP6-
-
-
-
3Gain-
IGHD-
-
-
-
3Gain-
IGHV3-72-
-
-
-
3Gain-
IGIP-
-
-
-
3Gain-
IK-
-
-
-
3Gain-
IKBIP-
-
-
-
3Gain-
IKZF4-
-
-
-
3Gain-
IL12B-
-
-
-
3Gain-
IL13-
-
-
-
3Gain-
IL17B-
-
-
-
3Gain-
IL22-
-
-
-
3Gain-
IL23A-
-
-
-
3Gain-
IL25-
-
-
-
3Gain-
IL26-
-
-
-
3Gain-
IL3-
-
-
-
3Gain-
IL31-
-
-
-
3Gain-
IL31RA-
-
-
-
3Gain-
IL4-
-
-
-
3Gain-
IL4I1p.R193H
Missense
SNP
0.495
2--
IL5-
-
-
-
3Gain-
IL6ST-
-
-
-
3Gain-
IL7R-
-
-
-
3Gain-
IL9-
-
-
-
3Gain-
INF2-
-
-
-
3Gain-
ING4-
-
-
-
3Gain-
INHBC-
-
-
-
3Gain-
INHBE-
-
-
-
3Gain-
INPP5Bp.K479E
Missense
SNP
0.485
2--
INSM2-
-
-
-
3Gain-
INSRRp.A871V
Missense
SNP
0.479
2--
INTS13-
-
-
-
3Gain-
IP6K1p.R114Q
Missense
SNP
0.432
2--
IPO11-
-
-
-
3Gain-
IPO4-
-
-
-
3Gain-
IPO8-
-
-
-
3Gain-
IQCD-
-
-
-
3Gain-
IQGAP2-
-
-
-
3Gain-
IQSEC3-
-
-
-
3Gain-
IRAK3-
-
-
-
3Gain-
IRAK4p.R12C
Missense
SNP
0.337
3Gain-
IRF1-
-
-
-
3Gain-
IRF2BPL-
-
-
-
3Gain-
IRF9-
-
-
-
3Gain-
IRGCp.V170M
Missense
SNP
0.484
2--
IRGM-
-
-
-
3Gain-
IRS4p.R1084C
Missense
SNP
1.000
NDND-
IRX1-
-
-
-
3Gain-
IRX2-
-
-
-
3Gain-
IRX4-
-
-
-
3Gain-
ISCA2-
-
-
-
3Gain-
ISCU-
-
-
-
3Gain-
ISL1-
-
-
-
3Gain-
ISM2-
-
-
-
3Gain-
ISOC1-
-
-
-
3Gain-
ISYNA1p.A466V
Missense
SNP
0.515
2--
ITFG1p.Q360*
Nonsense
SNP
0.174
2--
ITFG2-
-
-
-
3Gain-
ITGA1-
-
-
-
3Gain-
ITGA2-
-
-
-
3Gain-
ITGA5-
-
-
-
3Gain-
ITGA7-
-
-
-
3Gain-
ITGB7-
-
-
-
3Gain-
ITK-
-
-
-
3Gain-
ITPK1-
-
-
-
3Gain-
ITPR2-
-
-
-
3Gain-
IZUMO2p.A69T
Missense
SNP
0.503
2--
JADE2-
-
-
-
3Gain-
JAG2-
-
-
-
3Gain-
JAK3p.D846N
Missense
SNP
0.513
2--
JAKMIP2-
-
-
-
3Gain-
JDP2-
-
-
-
3Gain-
JKAMP-
-
-
-
3Gain-
JMY-
-
-
-
3Gain-
JPH3p.R94C
Missense
SNP
0.409
2--
JPH4-
-
-
-
3Gain-
KANSL2-
-
-
-
3Gain-
KCNA1-
-
-
-
3Gain-
KCNA4p.R68H
Missense
SNP
0.469
2--
KCNA5-
-
-
-
3Gain-
KCNA6-
-
-
-
3Gain-
KCNC2-
-
-
-
3Gain-
KCNE5p.A108T
Missense
SNP
1.000
NDND-
KCNH3-
-
-
-
3Gain-
KCNH5-
-
-
-
3Gain-
KCNIP1-
-
-
-
3Gain-
KCNJ8-
-
-
-
3Gain-
KCNK10-
-
-
-
3Gain-
KCNK12-
-
-
-
1Loss-
KCNK13-
-
-
-
3Gain-
KCNMB1-
-
-
-
3Gain-
KCNMB4-
-
-
-
3Gain-
KCNN1p.E101K
Missense
SNP
0.494
2--
KCNN2-
-
-
-
3Gain-
KCTD10-
-
-
-
3Gain-
KCTD16-
-
-
-
3Gain-
KCTD20p.R371*
Nonsense
SNP
0.463
2--
KDM2B-
-
-
-
3Gain-
KDM3B-
-
-
-
3Gain-
KDM5A-
-
-
-
3Gain-
KELp.P331T
Missense
SNP
0.397
NDND-
KERA-
-
-
-
3Gain-
KHNYN-
-
-
-
3Gain-
KIAA0391-
-
-
-
3Gain-
KIAA0586-
-
-
-
3Gain-
KIAA0825-
-
-
-
3Gain-
KIAA1024L-
-
-
-
3Gain-
KIAA1191-
-
-
-
3Gain-
KIAA1551-
-
-
-
3Gain-
KIDINS220p.S1365F
Missense
SNP
0.421
2--
KIF16Bp.R907H
Missense
SNP
0.482
2--
KIF20A-
-
-
-
3Gain-
KIF21A-
-
-
-
3Gain-
KIF26A-
-
-
-
3Gain-
KIF2A-
-
-
-
3Gain-
KIF3A-
-
-
-
3Gain-
KIF4B-
-
-
-
3Gain-
KIF5A-
-
-
-
3Gain-
KIRREL2p.P312L
Missense
SNP
0.456
2--
KITLG-
-
-
-
3Gain-
KLC1-
-
-
-
3Gain-
KLC3p.R17C
Missense
SNP
0.521
2--
KLHDC1-
-
-
-
3Gain-
KLHDC2-
-
-
-
3Gain-
KLHL28-
-
-
-
3Gain-
KLHL3-
-
-
-
3Gain-
KLHL33-
-
-
-
3Gain-
KLHL42p.W281*
Nonsense
SNP
0.237
3Gain-
KLRB1-
-
-
-
3Gain-
KLRC1-
-
-
-
3Gain-
KLRC2-
-
-
-
3Gain-
KLRC3-
-
-
-
3Gain-
KLRC4-
-
-
-
3Gain-
KLRC4-KLRK1-
-
-
-
3Gain-
KLRD1-
-
-
-
3Gain-
KLRF1-
-
-
-
3Gain-
KLRF2-
-
-
-
3Gain-
KLRG1-
-
-
-
3Gain-
KLRK1-
-
-
-
3Gain-
KMT2Cp.R2609*
Nonsense
SNP
0.513
NDND-
KMT2Dp.P1827Q
Missense
SNP
0.296
3Gain-
KMT5A-
-
-
-
3Gain-
KNTC1-
-
-
-
3Gain-
KRAS-
-
-
-
3Gain-
KRI1p.R70W
Missense
SNP
0.452
2--
KRR1-
-
-
-
3Gain-
KRT1-
-
-
-
3Gain-
KRT14p.E465*
Nonsense
SNP
0.354
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-
KSR2-
-
-
-
3Gain-
KTN1-
-
-
-
3Gain-
L2HGDH-
-
-
-
3Gain-
L3HYPDH-
-
-
-
3Gain-
LACRT-
-
-
-
3Gain-
LAG3-
-
-
-
3Gain-
LALBA-
-
-
-
3Gain-
LAMC1p.E1072K
Missense
SNP
0.493
2--
LARP1-
-
-
-
3Gain-
LARP4-
-
-
-
3Gain-
LARS-
-
-
-
3Gain-
LCP2-
-
-
-
3Gain-
LDHB-
-
-
-
3Gain-
LEAP2-
-
-
-
3Gain-
LECT2-
-
-
-
3Gain-
LEMD3-
-
-
-
3Gain-
LENG9p.E281D
Missense
SNP
0.568
2--
LETMD1-
-
-
-
3Gain-
LGALS3-
-
-
-
3Gain-
LGMN-
-
-
-
3Gain-
LGR5-
-
-
-
3Gain-
LHCGR-
-
-
-
1Loss-
LHFPL2-
-
-
-
3Gain-
LHX5-
-
-
-
3Gain-
LIFR-
-
-
-
3Gain-
LIMA1-
-
-
-
3Gain-
LIN52-
-
-
-
3Gain-
LIN7A-
-
-
-
3Gain-
LIN7Cp.R194M
Missense
SNP
0.529
2--
LINC02203-
-
-
-
5Amp-
LIPGp.R315H
Missense
SNP
0.471
2--
LIX1-
-
-
-
3Gain-
LLPH-
-
-
-
3Gain-
LMAN2-
-
-
-
3Gain-
LMBR1L-
-
-
-
3Gain-
LMBRD2-
-
-
-
3Gain-
LMLN2-
-
-
-
3Gain-
LMNB1-
-
-
-
3Gain-
LMNTD1-
-
-
-
3Gain-
LMO3-
-
-
-
3Gain-
LNPEP-
-
-
-
3Gain-
LOX-
-
-
-
3Gain-
LPAp.R1868M
Missense
SNP
0.470
2--
LPAR5-
-
-
-
3Gain-
LPCAT1-
-
-
-
3Gain-
LPCAT3-
-
-
-
3Gain-
LRCOL1-
-
-
-
3Gain-
LRFN2p.P647L
Missense
SNP
0.314
2--
LRFN5-
-
-
-
3Gain-
LRIG3-
-
-
-
3Gain-
LRMP-
-
-
-
3Gain-
LRP1-
-
-
-
3Gain-
LRP10-
-
-
-
3Gain-
LRP1Bp.E148K
Missense
SNP
0.592
2--
LRP3p.R223C
Missense
SNP
0.514
2--
LRP6-
-
-
-
3Gain-
LRPPRC-
-
-
-
1Loss-
LRR1-
-
-
-
3Gain-
LRRC10-
-
-
-
3Gain-
LRRC14B-
-
-
-
3Gain-
LRRC16Ap.R1156W
Missense
SNP
0.444
NDND-
LRRC23-
-
-
-
3Gain-
LRRC37A-
-
-
-
1Loss-
LRRC37A2-
-
-
-
1Loss-
LRRC38p.R165C
Missense
SNP
0.487
2--
LRRC43-
-
-
-
3Gain-
LRRC70-
-
-
-
3Gain-
LRRC74A-
-
-
-
3Gain-
LRRC9-
-
-
-
3Gain-
LRRIQ1-
-
-
-
3Gain-
LRRK2-
-
-
-
3Gain-
LRRTM2-
-
-
-
3Gain-
LRTM2-
-
-
-
3Gain-
LSM11-
-
-
-
3Gain-
LTA4H-
-
-
-
3Gain-
LTB4R-
-
-
-
3Gain-
LTB4R2-
-
-
-
3Gain-
LTBP2-
-
-
-
3Gain-
LTBR-
-
-
-
3Gain-
LTC4S-
-
-
-
3Gain-
LTKp.G103R
Missense
SNP
0.494
2--
LUM-
-
-
-
3Gain-
LVRN-
-
-
-
3Gain-
LYRM7-
-
-
-
3Gain-
LYSMD3-
-
-
-
3Gain-
LYZ-
-
-
-
3Gain-
M6PR-
-
-
-
3Gain-
MAGEB3p.R59C
Missense
SNP
1.000
NDND-
MAGOHB-
-
-
-
3Gain-
MAML1-
-
-
-
3Gain-
MAN2A1-
-
-
-
3Gain-
MAN2A2p.R561H
Missense
SNP
0.467
2--
MANSC1-
-
-
-
3Gain-
MANSC4-
-
-
-
3Gain-
MAP1Bp.L2231M
Missense
SNP
0.139
3Gain-
MAP1LC3B2-
-
-
-
3Gain-
MAP2K7p.Q8*
Nonsense
SNP
0.431
2--
MAP3K1-
-
-
-
3Gain-
MAP3K12-
-
-
-
3Gain-
MAP3K9-
-
-
-
3Gain-
MAP4K5-
-
-
-
3Gain-
MAPK1IP1L-
-
-
-
3Gain-
MAPK8IP3p.A1153V
Missense
SNP
0.375
2--
MAPK9-
-
-
-
3Gain-
MAPKAPK5-
-
-
-
3Gain-
MARCH11-
-
-
-
3Gain-
MARCH3-
-
-
-
3Gain-
MARCH6-
-
-
-
3Gain-
MARCH9-
-
-
-
3Gain-
MARK3-
-
-
-
3Gain-
MARS-
-
-
-
3Gain-
MARVELD2-
-
-
-
3Gain-
MAST4-
-
-
-
3Gain-
MAT2B-
-
-
-
3Gain-
MATR3-
-
-
-
3Gain-
MAX-
-
-
-
3Gain-
MBD6-
-
-
-
3Gain-
MBIP-
-
-
-
3Gain-
MBLAC1p.G181V
Missense
SNP
0.525
2--
MBLAC2-
-
-
-
3Gain-
MCC-
-
-
-
3Gain-
MCCC2-
-
-
-
3Gain-
MCFD2-
-
-
-
1Loss-
MCIDAS-
-
-
-
3Gain-
MCRS1-
-
-
-
3Gain-
MCTP1-
-
-
-
3Gain-
MDGA2-
-
-
-
3Gain-
MDM1-
-
-
-
3Gain-
MDM2-
-
-
-
3Gain-
MDN1p.I2111M
Missense
SNP
0.421
2--
MDP1-
-
-
-
3Gain-
MED10-
-
-
-
3Gain-
MED13L-
-
-
-
3Gain-
MED21-
-
-
-
3Gain-
MED6-
-
-
-
3Gain-
MED7-
-
-
-
3Gain-
MEF2C-
-
-
-
3Gain-
MEGF10-
-
-
-
3Gain-
METp.T1010I
Missense
SNP
0.576
2--
METAP2-
-
-
-
3Gain-
METTL1-
-
-
-
3Gain-
METTL17-
-
-
-
3Gain-
METTL25-
-
-
-
3Gain-
METTL3-
-
-
-
3Gain-
METTL7A-
-
-
-
3Gain-
METTL7B-
-
-
-
3Gain-
MFAP3-
-
-
-
3Gain-
MFAP5-
-
-
-
3Gain-
MFSD5-
-
-
-
3Gain-
MGAT1-
-
-
-
3Gain-
MGAT2-
-
-
-
3Gain-
MGAT4B-
-
-
-
3Gain-
MGAT4C-
-
-
-
3Gain-
MGP-
-
-
-
3Gain-
MGST1-
-
-
-
3Gain-
MIA2-
-
-
-
3Gain-
MIER3-
-
-
-
3Gain-
MIP-
-
-
-
3Gain-
MIPOL1-
-
-
-
3Gain-
MIS18BP1-
-
-
-
3Gain-
MISPp.R346C
Missense
SNP
0.460
2--
MKKSp.A163V
Missense
SNP
0.375
2--
MLEC-
-
-
-
3Gain-
MLF2-
-
-
-
3Gain-
MLH3-
-
-
-
3Gain-
MLXIP-
-
-
-
3Gain-
MMAB-
-
-
-
3Gain-
MMP14-
-
-
-
3Gain-
MMP15p.T175M
Missense
SNP
0.537
2--
MMP17-
-
-
-
3Gain-
MMP19-
-
-
-
3Gain-
MMS19p.L169I
Missense
SNP
0.247
2--
MNAT1-
-
-
-
3Gain-
MOAP1-
-
-
-
3Gain-
MOCS2-
-
-
-
3Gain-
MOK-
-
-
-
3Gain-
MON2-
-
-
-
3Gain-
MORN3-
-
-
-
3Gain-
MPHOSPH9-
-
-
-
3Gain-
MPP5-
-
-
-
3Gain-
MRNIP-
-
-
-
3Gain-
MROH2B-
-
-
-
3Gain-
MRPL22-
-
-
-
3Gain-
MRPL36-
-
-
-
3Gain-
MRPL42-
-
-
-
3Gain-
MRPL51-
-
-
-
3Gain-
MRPL52-
-
-
-
3Gain-
MRPS27-
-
-
-
3Gain-
MRPS30-
-
-
-
3Gain-
MRPS35-
-
-
-
3Gain-
MRPS36-
-
-
-
3Gain-
MSH2-
-
-
-
1Loss-
MSH3-
-
-
-
3Gain-
MSH6-
-
-
-
1Loss-
MSI1-
-
-
-
3Gain-
MSI2p.A301V
Missense
SNP
0.626
2--
MSRB3-
-
-
-
3Gain-
MSX2-
-
-
-
3Gain-
MTA1-
-
-
-
3Gain-
MTERF2-
-
-
-
3Gain-
MTHFD1-
-
-
-
3Gain-
MTMR12-
-
-
-
3Gain-
MTORp.R1640W
Missense
SNP
0.479
2--
MTREX-
-
-
-
3Gain-
MTRR-
-
-
-
3Gain-
MTX3-
-
-
-
3Gain-
MUC19-
-
-
-
3Gain-
MUCL1-
-
-
-
3Gain-
MVK-
-
-
-
3Gain-
MXD3-
-
-
-
3Gain-
MYBPC1-
-
-
-
3Gain-
MYF5-
-
-
-
3Gain-
MYF6-
-
-
-
3Gain-
MYH6-
-
-
-
3Gain-
MYH7-
-
-
-
3Gain-
MYL2-
-
-
-
3Gain-
MYL6-
-
-
-
3Gain-
MYL6B-
-
-
-
3Gain-
MYO10-
-
-
-
3Gain-
MYO15Ap.R2588W
Missense
SNP
0.119
2--
MYO1A-
-
-
-
3Gain-
MYO1Fp.A466T
Missense
SNP
0.360
2--
MYO1H-
-
-
-
3Gain-
MYO5Ap.R790W
Missense
SNP
0.437
2--
MYOT-
-
-
-
3Gain-
MYOZ3-
-
-
-
3Gain-
MYRFL-
-
-
-
3Gain-
MZB1-
-
-
-
3Gain-
N4BP3-
-
-
-
3Gain-
NAA25-
-
-
-
3Gain-
NAA30-
-
-
-
3Gain-
NAB2-
-
-
-
3Gain-
NABP2-
-
-
-
3Gain-
NACA-
-
-
-
3Gain-
NADK2p.R403H
Missense
SNP
0.300
3Gain-
NAIP-
-
-
-
3Gain-
NANOG-
-
-
-
3Gain-
NANOGNB-
-
-
-
3Gain-
NAP1L1-
-
-
-
3Gain-
NAV3-
-
-
-
3Gain-
NCAPD2-
-
-
-
3Gain-
NCKAP1L-
-
-
-
3Gain-
NCKAP5L-
-
-
-
3Gain-
NCOA1p.R692W
Missense
SNP
0.348
2--
NCOR1p.P813S
Missense
SNP
0.426
2--
NCOR2-
-
-
-
3Gain-
NDFIP1-
-
-
-
3Gain-
NDRG2-
-
-
-
3Gain-
NDST1-
-
-
-
3Gain-
NDUFA12-
-
-
-
3Gain-
NDUFA2-
-
-
-
3Gain-
NDUFA4L2-
-
-
-
3Gain-
NDUFA9-
-
-
-
3Gain-
NDUFAF2-
-
-
-
3Gain-
NDUFB1-
-
-
-
3Gain-
NDUFS4-
-
-
-
3Gain-
NDUFS6-
-
-
-
3Gain-
NEBp.T1377I
Missense
SNP
0.116
2--
NEBLp.V220A
Missense
SNP
0.487
2--
NECAP1-
-
-
-
3Gain-
NEDD1-
-
-
-
3Gain-
NEDD8-
-
-
-
3Gain-
NEDD8-MDP1-
-
-
-
3Gain-
NEK9-
-
-
-
3Gain-
NELL2-
-
-
-
3Gain-
NEMF-
-
-
-
3Gain-
NEMP1-
-
-
-
3Gain-
NETO2p.P505L
Missense
SNP
0.145
2--
NEURL1B-
-
-
-
3Gain-
NEUROD4-
-
-
-
3Gain-
NEUROG1-
-
-
-
3Gain-
NFATC4-
-
-
-
3Gain-
NFE2-
-
-
-
3Gain-
NFE2L2p.A69S
Missense
SNP
0.522
2--
NFIAp.L176I
Missense
SNP
0.487
2--
NFKBIA-
-
-
-
3Gain-
NFYB-
-
-
-
3Gain-
NGB-
-
-
-
3Gain-
NGDN-
-
-
-
3Gain-
NHP2-
-
-
-
3Gain-
NID2-
-
-
-
3Gain-
NIM1K-
-
-
-
3Gain-
NIN-
-
-
-
3Gain-
NINJ2-
-
-
-
3Gain-
NIPAL4-
-
-
-
3Gain-
NIPBLp.R1779*
Nonsense
SNP
0.632
3Gain-
NKD2-
-
-
-
3Gain-
NKX2-1-
-
-
-
3Gain-
NKX2-5-
-
-
-
3Gain-
NKX2-8-
-
-
-
3Gain-
NLGN2p.G95S
Missense
SNP
0.386
2--
NLN-
-
-
-
3Gain-
NME5-
-
-
-
3Gain-
NMUR2-
-
-
-
3Gain-
NNT-
-
-
-
3Gain-
NOC4L-
-
-
-
3Gain-
NOP16-
-
-
-
3Gain-
NOP2-
-
-
-
3Gain-
NOP9-
-
-
-
3Gain-
NOS1-
-
-
-
3Gain-
NOTCH1p.C1561Y
Missense
SNP
0.121
2--
NOVA1-
-
-
-
3Gain-
NOXRED1-
-
-
-
3Gain-
NPAS3-
-
-
-
3Gain-
NPC2-
-
-
-
3Gain-
NPFF-
-
-
-
3Gain-
NPM1-
-
-
-
3Gain-
NPR3-
-
-
-
3Gain-
NR1H4-
-
-
-
3Gain-
NR2C1-
-
-
-
3Gain-
NR2F1-
-
-
-
3Gain-
NR3C1-
-
-
-
3Gain-
NR4A1-
-
-
-
3Gain-
NRAPp.R428H
Missense
SNP
0.107
2--
NRDE2-
-
-
-
3Gain-
NREP-
-
-
-
3Gain-
NRG2-
-
-
-
3Gain-
NRIP2-
-
-
-
3Gain-
NRL-
-
-
-
3Gain-
NRXN1-
-
-
-
1Loss-
NRXN3-
-
-
-
4Gain-
NSA2-
-
-
-
3Gain-
NSD1-
-
-
-
3Gain-
NSF-
-
-
-
1Loss-
NSG2-
-
-
-
3Gain-
NSUN2-
-
-
-
3Gain-
NT5DC2p.X471_splice
Splice_Site
SNP
0.482
2--
NT5DC3-
-
-
-
3Gain-
NTF3-
-
-
-
3Gain-
NTN4-
-
-
-
3Gain-
NTNG1-
-
-
-
3Gain-
NTS-
-
-
-
3Gain-
NUAK1-
-
-
-
3Gain-
NUBPL-
-
-
-
3Gain-
NUDCD2-
-
-
-
3Gain-
NUDT12-
-
-
-
3Gain-
NUDT13p.A68P
Missense
SNP
0.479
NDND-
NUDT14-
-
-
-
3Gain-
NUDT4-
-
-
-
3Gain-
NUMB-
-
-
-
3Gain-
NUP107-
-
-
-
3Gain-
NUP155-
-
-
-
3Gain-
NUP37-
-
-
-
3Gain-
NXPH4-
-
-
-
3Gain-
NYNRIN-
-
-
-
3Gain-
OAS1-
-
-
-
3Gain-
OAS2-
-
-
-
3Gain-
OAS3-
-
-
-
3Gain-
OASL-
-
-
-
3Gain-
OCLN-
-
-
-
3Gain-
OGFOD2-
-
-
-
3Gain-
OGTp.A671V
Missense
SNP
1.000
NDND-
OLR1-
-
-
-
3Gain-
OR10A7-
-
-
-
3Gain-
OR10AD1-
-
-
-
3Gain-
OR10G2-
-
-
-
3Gain-
OR10G3-
-
-
-
3Gain-
OR10P1-
-
-
-
3Gain-
OR11G2-
-
-
-
3Gain-
OR11H4-
-
-
-
3Gain-
OR11H6-
-
-
-
3Gain-
OR2AP1-
-
-
-
3Gain-
OR2V1-
-
-
-
3Gain-
OR2V2-
-
-
-
3Gain-
OR2Y1-
-
-
-
3Gain-
OR4A47p.C95Y
Missense
SNP
0.431
2--
OR4C11p.A234V
Missense
SNP
1.000
2--
OR4E1-
-
-
-
3Gain-
OR4E2-
-
-
-
3Gain-
OR4K1-
-
-
-
3Gain-
OR4K13-
-
-
-
3Gain-
OR4K14-
-
-
-
3Gain-
OR4K15-
-
-
-
3Gain-
OR4K17-
-
-
-
3Gain-
OR4K2-
-
-
-
3Gain-
OR4K5-
-
-
-
3Gain-
OR4L1-
-
-
-
3Gain-
OR4M1-
-
-
-
3Gain-
OR4M2-
-
-
-
5Amp-
OR4N2-
-
-
-
3Gain-
OR4N4-
-
-
-
5Amp-
OR4N5-
-
-
-
3Gain-
OR4Q2-
-
-
-
3Gain-
OR4Q3-
-
-
-
3Gain-
OR52H1p.R180H
Missense
SNP
0.492
2--
OR5AU1-
-
-
-
3Gain-
OR5BS1P-
-
-
-
3Gain-
OR6C1-
-
-
-
3Gain-
OR6C2-
-
-
-
3Gain-
OR6C3-
-
-
-
3Gain-
OR6C4-
-
-
-
3Gain-
OR6C6-
-
-
-
3Gain-
OR6C65-
-
-
-
3Gain-
OR6C68-
-
-
-
3Gain-
OR6C70-
-
-
-
3Gain-
OR6C74-
-
-
-
3Gain-
OR6C75-
-
-
-
3Gain-
OR6C76-
-
-
-
3Gain-
OR6J1-
-
-
-
3Gain-
OR6S1-
-
-
-
3Gain-
OR6T1p.R261H
Missense
SNP
0.444
2--
OR7E47P-
-
-
-
3Gain-
OR8S1-
-
-
-
3Gain-
OR9K2-
-
-
-
3Gain-
ORAI1-
-
-
-
3Gain-
ORMDL2-
-
-
-
3Gain-
OS9-
-
-
-
3Gain-
OSBPL8-
-
-
-
3Gain-
OSGEP-
-
-
-
3Gain-
OSMR-
-
-
-
3Gain-
OTOFp.K1859N
Missense
SNP
0.491
2--
OTOGL-
-
-
-
3Gain-
OTP-
-
-
-
3Gain-
OTUB2-
-
-
-
3Gain-
OTULIN-
-
-
-
3Gain-
OTULINL-
-
-
-
3Gain-
OTX2-
-
-
-
3Gain-
OVCH1-
-
-
-
3Gain-
OXA1L-
-
-
-
3Gain-
OXCT1-
-
-
-
3Gain-
P2RX2-
-
-
-
3Gain-
P2RX4-
-
-
-
3Gain-
P2RX7-
-
-
-
3Gain-
P3H3-
-
-
-
3Gain-
P4HA2-
-
-
-
3Gain-
PA2G4-
-
-
-
3Gain-
PABPN1-
-
-
-
3Gain-
PACS2-
-
-
-
3Gain-
PAH-
-
-
-
3Gain-
PAIP1-
-
-
-
3Gain-
PAIP2-
-
-
-
3Gain-
PAK5p.A466T
Missense
SNP
0.481
2--
PAM-
-
-
-
3Gain-
PAN2-
-
-
-
3Gain-
PAPLN-
-
-
-
3Gain-
PAPOLA-
-
-
-
3Gain-
PAPSS2p.A468T
Missense
SNP
0.442
2--
PARP11-
-
-
-
3Gain-
PARP2-
-
-
-
3Gain-
PARP8-
-
-
-
3Gain-
PARPBP-
-
-
-
3Gain-
PASKp.E1174*
Nonsense
SNP
0.419
2--
PAWR-
-
-
-
3Gain-
PAX9-
-
-
-
3Gain-
PCBD2-
-
-
-
3Gain-
PCBP2-
-
-
-
3Gain-
PCDH1-
-
-
-
3Gain-
PCDH12-
-
-
-
3Gain-
PCDH15p.F1153I
Missense
SNP
0.552
2--
PCDHA1-
-
-
-
3Gain-
PCDHA10-
-
-
-
3Gain-
PCDHA11-
-
-
-
3Gain-
PCDHA12-
-
-
-
3Gain-
PCDHA13-
-
-
-
3Gain-
PCDHA2-
-
-
-
3Gain-
PCDHA3-
-
-
-
3Gain-
PCDHA4-
-
-
-
3Gain-
PCDHA5-
-
-
-
3Gain-
PCDHA6-
-
-
-
3Gain-
PCDHA7p.A615V
Missense
SNP
0.707
3Gain-
PCDHA8-
-
-
-
3Gain-
PCDHA9-
-
-
-
3Gain-
PCDHAC1-
-
-
-
3Gain-
PCDHAC2-
-
-
-
3Gain-
PCDHB1-
-
-
-
3Gain-
PCDHB10-
-
-
-
3Gain-
PCDHB11-
-
-
-
3Gain-
PCDHB12p.E462K
Missense
SNP
0.194
3Gain-
PCDHB13-
-
-
-
3Gain-
PCDHB14-
-
-
-
3Gain-
PCDHB15-
-
-
-
3Gain-
PCDHB16-
-
-
-
3Gain-
PCDHB2-
-
-
-
3Gain-
PCDHB3-
-
-
-
3Gain-
PCDHB4-
-
-
-
3Gain-
PCDHB5-
-
-
-
3Gain-
PCDHB6p.A63T
Missense
SNP
0.696
3Gain-
PCDHB7-
-
-
-
3Gain-
PCDHB8-
-
-
-
3Gain-
PCDHB9-
-
-
-
3Gain-
PCDHGA1-
-
-
-
3Gain-
PCDHGA10-
-
-
-
3Gain-
PCDHGA11-
-
-
-
3Gain-
PCDHGA12-
-
-
-
3Gain-
PCDHGA2-
-
-
-
3Gain-
PCDHGA3p.V575M
Missense
SNP
0.213
3Gain-
PCDHGA4-
-
-
-
3Gain-
PCDHGA5-
-
-
-
3Gain-
PCDHGA6-
-
-
-
3Gain-
PCDHGA7-
-
-
-
3Gain-
PCDHGA8-
-
-
-
3Gain-
PCDHGA9-
-
-
-
3Gain-
PCDHGB1-
-
-
-
3Gain-
PCDHGB2-
-
-
-
3Gain-
PCDHGB3-
-
-
-
3Gain-
PCDHGB4-
-
-
-
3Gain-
PCDHGB5-
-
-
-
3Gain-
PCDHGB6-
-
-
-
3Gain-
PCDHGB7-
-
-
-
3Gain-
PCDHGC3-
-
-
-
3Gain-
PCDHGC4-
-
-
-
3Gain-
PCDHGC5-
-
-
-
3Gain-
PCED1B-
-
-
-
3Gain-
PCK2-
-
-
-
3Gain-
PCNTp.A1523V
Missense
SNP
0.375
2--
PCNX1-
-
-
-
3Gain-
PCNX2p.X897_splice
Splice_Site
SNP
0.415
2--
PCNX4-
-
-
-
3Gain-
PCSK1-
-
-
-
3Gain-
PCYOX1L-
-
-
-
3Gain-
PDCD6-
-
-
-
3Gain-
PDE10Ap.R439W
Missense
SNP
0.482
2--
PDE1B-
-
-
-
3Gain-
PDE3A-
-
-
-
3Gain-
PDE4D-
-
-
-
3Gain-
PDE6A-
-
-
-
3Gain-
PDE6H-
-
-
-
3Gain-
PDE8B-
-
-
-
3Gain-
PDGFRB-
-
-
-
3Gain-
PDLIM4-
-
-
-
3Gain-
PDLIM7-
-
-
-
3Gain-
PDZD2p.R787H
Missense
SNP
0.632
3Gain-
PDZRN4-
-
-
-
3Gain-
PEBP1-
-
-
-
3Gain-
PELI2-
-
-
-
3Gain-
PELO-
-
-
-
3Gain-
PEX5-
-
-
-
3Gain-
PFDN1-
-
-
-
3Gain-
PFDN5-
-
-
-
3Gain-
PFKM-
-
-
-
3Gain-
PFN3-
-
-
-
3Gain-
PGAM5-
-
-
-
3Gain-
PGF-
-
-
-
3Gain-
PGGT1B-
-
-
-
3Gain-
PHAX-
-
-
-
3Gain-
PHB2-
-
-
-
3Gain-
PHC1-
-
-
-
3Gain-
PHC2p.A91T
Missense
SNP
0.531
2--
PHETA1-
-
-
-
3Gain-
PHIPp.C1020Y
Missense
SNP
0.384
2--
PHLDA1-
-
-
-
3Gain-
PHYKPL-
-
-
-
3Gain-
PIANPp.R78W
Missense
SNP
0.658
3Gain-
PIAS2p.R28W
Missense
SNP
0.430
2--
PIGF-
-
-
-
1Loss-
PIGH-
-
-
-
3Gain-
PIGVp.R203C
Missense
SNP
0.476
2--
PIK3AP1p.R606W
Missense
SNP
0.448
2--
PIK3C2G-
-
-
-
3Gain-
PIK3R1-
-
-
-
3Gain-
PIP4K2C-
-
-
-
3Gain-
PIP4P1-
-
-
-
3Gain-
PISDp.R39W
Missense
SNP
0.436
2--
PITPNM1p.R133K
Missense
SNP
0.481
2--
PITPNM2-
-
-
-
3Gain-
PITPNM3p.T688I
Missense
SNP
0.491
2--
PITX1-
-
-
-
3Gain-
PIWIL1-
-
-
-
3Gain-
PJA2-
-
-
-
3Gain-
PKD2L2-
-
-
-
3Gain-
PKP2-
-
-
-
3Gain-
PLA2G1B-
-
-
-
3Gain-
PLA2G4Ap.V378I
Missense
SNP
0.113
2--
PLAC8L1-
-
-
-
3Gain-
PLBD1-
-
-
-
3Gain-
PLBD2-
-
-
-
3Gain-
PLCXD3-
-
-
-
3Gain-
PLCZ1-
-
-
-
3Gain-
PLD1p.E39D
Missense
SNP
0.345
2--
PLD4-
-
-
-
3Gain-
PLEK2-
-
-
-
3Gain-
PLEKHA5-
-
-
-
3Gain-
PLEKHD1-
-
-
-
3Gain-
PLEKHG3-
-
-
-
3Gain-
PLEKHG4B-
-
-
-
3Gain-
PLEKHG6-
-
-
-
3Gain-
PLEKHG7-
-
-
-
3Gain-
PLEKHH1-
-
-
-
3Gain-
PLEKHH2-
-
-
-
1Loss-
PLEKHM3p.G516C
Missense
SNP
0.492
2--
PLK2-
-
-
-
3Gain-
PLPP1-
-
-
-
3Gain-
PLXNC1-
-
-
-
3Gain-
PMCH-
-
-
-
3Gain-
PMEL-
-
-
-
3Gain-
PNMA1-
-
-
-
3Gain-
PNN-
-
-
-
3Gain-
PNP-
-
-
-
3Gain-
POC1B-
-
-
-
3Gain-
POC1B-GALNT4-
-
-
-
3Gain-
POC5-
-
-
-
3Gain-
PODNL1p.R96H
Missense
SNP
0.397
2--
POLD1p.R126C
Missense
SNP
0.554
2--
POLE-
-
-
-
3Gain-
POLE2-
-
-
-
3Gain-
POLK-
-
-
-
3Gain-
POLR3B-
-
-
-
3Gain-
POLR3G-
-
-
-
3Gain-
POMT2-
-
-
-
3Gain-
POP5-
-
-
-
3Gain-
POTEB-
-
-
-
5Amp-
POTEB2-
-
-
-
5Amp-
POU2F3p.T23M
Missense
SNP
0.478
2--
POU4F2p.R264C
Missense
SNP
0.492
2--
POU4F3-
-
-
-
3Gain-
POU5F2-
-
-
-
3Gain-
POU6F1-
-
-
-
3Gain-
PPARGC1B-
-
-
-
3Gain-
PPFIA2-
-
-
-
3Gain-
PPFIBP1-
-
-
-
3Gain-
PPHLN1-
-
-
-
3Gain-
PPIC-
-
-
-
3Gain-
PPIP5K2-
-
-
-
3Gain-
PPM1A-
-
-
-
3Gain-
PPM1B-
-
-
-
1Loss-
PPM1Gp.A190V
Missense
SNP
0.456
2--
PPM1H-
-
-
-
3Gain-
PPP1CC-
-
-
-
3Gain-
PPP1R12A-
-
-
-
3Gain-
PPP1R13B-
-
-
-
3Gain-
PPP1R1A-
-
-
-
3Gain-
PPP1R21-
-
-
-
1Loss-
PPP1R2B-
-
-
-
3Gain-
PPP1R36-
-
-
-
3Gain-
PPP1R3E-
-
-
-
3Gain-
PPP2CA-
-
-
-
3Gain-
PPP2R2B-
-
-
-
3Gain-
PPP2R3C-
-
-
-
3Gain-
PPP2R5C-
-
-
-
3Gain-
PPP2R5E-
-
-
-
3Gain-
PPP4R3A-
-
-
-
3Gain-
PPP4R4-
-
-
-
3Gain-
PPP6R3p.R344Q
Missense
SNP
0.444
2--
PPTC7-
-
-
-
3Gain-
PPWD1-
-
-
-
3Gain-
PRB1-
-
-
-
3Gain-
PRB2-
-
-
-
3Gain-
PRB3-
-
-
-
3Gain-
PRB4-
-
-
-
3Gain-
PRDM14p.L219M
Missense
SNP
0.436
2--
PRDM4-
-
-
-
3Gain-
PRDM6-
-
-
-
3Gain-
PRDM9-
-
-
-
3Gain-
PRELID1-
-
-
-
3Gain-
PRELID2-
-
-
-
3Gain-
PREPL-
-
-
-
1Loss-
PRH1-
-
-
-
3Gain-
PRH1-PRR4-
-
-
-
3Gain-
PRH2-
-
-
-
3Gain-
PRICKLE1-
-
-
-
3Gain-
PRIM1-
-
-
-
3Gain-
PRIMA1-
-
-
-
3Gain-
PRKAA1-
-
-
-
3Gain-
PRKAB1-
-
-
-
3Gain-
PRKAG1-
-
-
-
3Gain-
PRKCE-
-
-
-
1Loss-
PRKCH-
-
-
-
3Gain-
PRKD1-
-
-
-
3Gain-
PRLR-
-
-
-
3Gain-
PRMT5-
-
-
-
3Gain-
PRMT6-
-
-
-
3Gain-
PRMT8-
-
-
-
3Gain-
PROB1-
-
-
-
3Gain-
PROP1-
-
-
-
3Gain-
PROX2-
-
-
-
3Gain-
PRPF39-
-
-
-
3Gain-
PRPF40B-
-
-
-
3Gain-
PRPH-
-
-
-
3Gain-
PRR13-
-
-
-
3Gain-
PRR16-
-
-
-
3Gain-
PRR35p.P83H
Missense
SNP
0.130
2--
PRR4-
-
-
-
3Gain-
PRR7-
-
-
-
3Gain-
PRRC1-
-
-
-
3Gain-
PRRG1p.R20I
Missense
SNP
0.126
NDND-
PRSS38p.P72S
Missense
SNP
0.374
2--
PSD2-
-
-
-
3Gain-
PSEN1-
-
-
-
3Gain-
PSMA3-
-
-
-
3Gain-
PSMA6-
-
-
-
3Gain-
PSMB11-
-
-
-
3Gain-
PSMB5-
-
-
-
3Gain-
PSMC1-
-
-
-
3Gain-
PSMC6-
-
-
-
3Gain-
PSMD9-
-
-
-
3Gain-
PSME1-
-
-
-
3Gain-
PSME2-
-
-
-
3Gain-
PTCD2-
-
-
-
3Gain-
PTGDR-
-
-
-
3Gain-
PTGER2-
-
-
-
3Gain-
PTGER4-
-
-
-
3Gain-
PTGES3-
-
-
-
3Gain-
PTGR2-
-
-
-
3Gain-
PTHLH-
-
-
-
3Gain-
PTMS-
-
-
-
3Gain-
PTPN11-
-
-
-
3Gain-
PTPN21-
-
-
-
3Gain-
PTPN6-
-
-
-
3Gain-
PTPRB-
-
-
-
3Gain-
PTPRO-
-
-
-
3Gain-
PTPRQ-
-
-
-
3Gain-
PTPRR-
-
-
-
3Gain-
PTPRTp.P291H
Missense
SNP
0.453
2--
PTPRZ1p.D1763Y
Missense
SNP
0.306
2--
PTTG1-
-
-
-
3Gain-
PURA-
-
-
-
3Gain-
PUS1-
-
-
-
3Gain-
PUS7L-
-
-
-
3Gain-
PWP1-
-
-
-
3Gain-
PWWP2A-
-
-
-
3Gain-
PXMP2-
-
-
-
3Gain-
PXN-
-
-
-
3Gain-
PYGL-
-
-
-
3Gain-
PYM1-
-
-
-
3Gain-
PYROXD1-
-
-
-
3Gain-
PZP-
-
-
-
3Gain-
R3HDM2-
-
-
-
3Gain-
RAB15-
-
-
-
3Gain-
RAB21-
-
-
-
3Gain-
RAB24-
-
-
-
3Gain-
RAB2B-
-
-
-
3Gain-
RAB35-
-
-
-
3Gain-
RAB3C-
-
-
-
3Gain-
RAB3IP-
-
-
-
3Gain-
RAB5B-
-
-
-
3Gain-
RABGGTA-
-
-
-
3Gain-
RACGAP1-
-
-
-
3Gain-
RACK1-
-
-
-
3Gain-
RAD1-
-
-
-
3Gain-
RAD17-
-
-
-
3Gain-
RAD50-
-
-
-
3Gain-
RAD51AP1-
-
-
-
3Gain-
RAD51B-
-
-
-
3Gain-
RAD52-
-
-
-
3Gain-
RAD9B-
-
-
-
3Gain-
RAI14-
-
-
-
3Gain-
RALGAPA1-
-
-
-
3Gain-
RAN-
-
-
-
3Gain-
RANBP17-
-
-
-
3Gain-
RANBP3L-
-
-
-
3Gain-
RAP1B-
-
-
-
3Gain-
RAPGEF3-
-
-
-
3Gain-
RAPGEF6-
-
-
-
3Gain-
RARG-
-
-
-
3Gain-
RASA1-
-
-
-
3Gain-
RASAL1-
-
-
-
3Gain-
RASEF-
-
-
-
1Loss-
RASGEF1C-
-
-
-
3Gain-
RASGRF2-
-
-
-
3Gain-
RASSF3-
-
-
-
3Gain-
RASSF8-
-
-
-
3Gain-
RASSF9-
-
-
-
3Gain-
RBM19-
-
-
-
3Gain-
RBM22-
-
-
-
3Gain-
RBM23-
-
-
-
3Gain-
RBM25-
-
-
-
3Gain-
RBM27-
-
-
-
3Gain-
RBMS2-
-
-
-
3Gain-
RBP5-
-
-
-
3Gain-
RCOR1-
-
-
-
3Gain-
RD3L-
-
-
-
3Gain-
RDH11-
-
-
-
3Gain-
RDH12-
-
-
-
3Gain-
RDH16-
-
-
-
3Gain-
RDH5-
-
-
-
3Gain-
REC8-
-
-
-
3Gain-
RECQL-
-
-
-
3Gain-
REEP2-
-
-
-
3Gain-
REEP5-
-
-
-
3Gain-
RELL2-
-
-
-
3Gain-
REM2-
-
-
-
3Gain-
REP15-
-
-
-
3Gain-
RERG-
-
-
-
3Gain-
RERGL-
-
-
-
3Gain-
RETREG1-
-
-
-
3Gain-
RFC5-
-
-
-
3Gain-
RFESD-
-
-
-
3Gain-
RFLNA-
-
-
-
3Gain-
RFX4-
-
-
-
3Gain-
RGMBp.G287V
Missense
SNP
0.654
3Gain-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS14-
-
-
-
3Gain-
RGS6-
-
-
-
3Gain-
RGS7BP-
-
-
-
3Gain-
RHBDD1p.F297V
Missense
SNP
0.244
2--
RHEBL1-
-
-
-
3Gain-
RHNO1-
-
-
-
3Gain-
RHOBTB3-
-
-
-
3Gain-
RHOF-
-
-
-
3Gain-
RHOJ-
-
-
-
3Gain-
RHOQ-
-
-
-
1Loss-
RIC8B-
-
-
-
3Gain-
RICTOR-
-
-
-
3Gain-
RILPL1-
-
-
-
3Gain-
RILPL2-
-
-
-
3Gain-
RIMBP2-
-
-
-
3Gain-
RIMKLB-
-
-
-
3Gain-
RIN3-
-
-
-
3Gain-
RIOK2-
-
-
-
3Gain-
RIOX1-
-
-
-
3Gain-
RIPK3-
-
-
-
3Gain-
RITA1-
-
-
-
3Gain-
RMND5B-
-
-
-
3Gain-
RNASE1-
-
-
-
3Gain-
RNASE10-
-
-
-
3Gain-
RNASE11-
-
-
-
3Gain-
RNASE12-
-
-
-
3Gain-
RNASE13-
-
-
-
3Gain-
RNASE2-
-
-
-
3Gain-
RNASE3-
-
-
-
3Gain-
RNASE4-
-
-
-
3Gain-
RNASE6-
-
-
-
3Gain-
RNASE7-
-
-
-
3Gain-
RNASE8-
-
-
-
3Gain-
RNASE9-
-
-
-
3Gain-
RND1-
-
-
-
3Gain-
RNF10-
-
-
-
3Gain-
RNF130-
-
-
-
3Gain-
RNF14-
-
-
-
3Gain-
RNF145-
-
-
-
3Gain-
RNF175p.K126N
Missense
SNP
0.486
2--
RNF180-
-
-
-
3Gain-
RNF212B-
-
-
-
3Gain-
RNF31-
-
-
-
3Gain-
RNF34-
-
-
-
3Gain-
RNF41-
-
-
-
3Gain-
RNF44-
-
-
-
3Gain-
RNFT2-
-
-
-
3Gain-
RNPC3-
-
-
-
3Gain-
ROBO3p.R400H
Missense
SNP
0.576
2--
ROBO4p.R493H
Missense
SNP
0.406
2--
ROPN1L-
-
-
-
3Gain-
RPAP3-
-
-
-
3Gain-
RPGRIP1p.A513T
Missense
SNP
0.315
3Gain-
RPH3A-
-
-
-
3Gain-
RPL10L-
-
-
-
3Gain-
RPL26L1-
-
-
-
3Gain-
RPL36AL-
-
-
-
3Gain-
RPL37-
-
-
-
3Gain-
RPL41-
-
-
-
3Gain-
RPL6-
-
-
-
3Gain-
RPLP0-
-
-
-
3Gain-
RPS14-
-
-
-
3Gain-
RPS23-
-
-
-
3Gain-
RPS26-
-
-
-
3Gain-
RPS29-
-
-
-
3Gain-
RPS6KA5-
-
-
-
3Gain-
RPS6KL1-
-
-
-
3Gain-
RRP12p.R415H
Missense
SNP
0.400
2--
RSRC2-
-
-
-
3Gain-
RTL1-
-
-
-
3Gain-
RTN1-
-
-
-
3Gain-
RTRAF-
-
-
-
3Gain-
RUFY1-
-
-
-
3Gain-
RXFP3-
-
-
-
3Gain-
RXYLT1-
-
-
-
3Gain-
RYR3p.R2224C
Missense
SNP
0.414
2--
S100Z-
-
-
-
3Gain-
SAFB2p.R755H
Missense
SNP
0.449
2--
SALL1p.A951V
Missense
SNP
0.375
2--
SALL2-
-
-
-
3Gain-
SAMD15-
-
-
-
3Gain-
SAMD4A-
-
-
-
3Gain-
SAP30L-
-
-
-
3Gain-
SAR1B-
-
-
-
3Gain-
SARNP-
-
-
-
3Gain-
SART3-
-
-
-
3Gain-
SATB1p.A286V
Missense
SNP
0.477
2--
SAV1-
-
-
-
3Gain-
SBNO1p.E619D
Missense
SNP
0.286
3Gain-
SCAF11-
-
-
-
3Gain-
SCAMP1-
-
-
-
3Gain-
SCARB1-
-
-
-
3Gain-
SCFD1-
-
-
-
3Gain-
SCGB3A1-
-
-
-
3Gain-
SCGB3A2-
-
-
-
3Gain-
SCN8A-
-
-
-
3Gain-
SCNN1A-
-
-
-
3Gain-
SCRT2p.T261M
Missense
SNP
0.394
2--
SCYL2-
-
-
-
3Gain-
SDHA-
-
-
-
3Gain-
SDK1p.R1867W
Missense
SNP
0.532
2--
SDR39U1-
-
-
-
3Gain-
SDR9C7-
-
-
-
3Gain-
SDS-
-
-
-
3Gain-
SDSL-
-
-
-
3Gain-
SEC23A-
-
-
-
3Gain-
SEC24A-
-
-
-
3Gain-
SEL1Lp.A752V
Missense
SNP
0.369
4Gain-
SELENOP-
-
-
-
3Gain-
SELPLG-
-
-
-
3Gain-
SEMA5A-
-
-
-
3Gain-
SEMA6Ap.R695C
Missense
SNP
0.661
3Gain-
SENP1-
-
-
-
3Gain-
SEPT8-
-
-
-
3Gain-
SERF1A-
-
-
-
3Gain-
SERF1B-
-
-
-
3Gain-
SERINC5-
-
-
-
3Gain-
SERPINA1-
-
-
-
3Gain-
SERPINA10-
-
-
-
3Gain-
SERPINA11-
-
-
-
3Gain-
SERPINA12-
-
-
-
3Gain-
SERPINA3-
-
-
-
3Gain-
SERPINA4-
-
-
-
3Gain-
SERPINA5-
-
-
-
3Gain-
SERPINA6-
-
-
-
3Gain-
SERPINA9-
-
-
-
3Gain-
SERPINH1p.A99T
Missense
SNP
0.527
2--
SETD1B-
-
-
-
3Gain-
SETD3-
-
-
-
3Gain-
SETD9-
-
-
-
3Gain-
SF3B1p.T1187M
Missense
SNP
0.173
2--
SFSWAP-
-
-
-
3Gain-
SFTA3-
-
-
-
3Gain-
SFXN1-
-
-
-
3Gain-
SGCD-
-
-
-
3Gain-
SGPP1-
-
-
-
3Gain-
SGTB-
-
-
-
3Gain-
SH2B3-
-
-
-
3Gain-
SH3BGRLp.A99V
Missense
SNP
0.793
NDND-
SH3D21p.S205L
Missense
SNP
0.533
2--
SH3PXD2B-
-
-
-
3Gain-
SH3RF2-
-
-
-
3Gain-
SH3TC2-
-
-
-
3Gain-
SHISAL2B-
-
-
-
3Gain-
SHLD3-
-
-
-
3Gain-
SHMT2-
-
-
-
3Gain-
SHROOM1-
-
-
-
3Gain-
SHROOM4p.E209D
Missense
SNP
1.000
NDND-
SIDT1p.V757M
Missense
SNP
0.322
2--
SIL1-
-
-
-
3Gain-
SIMC1-
-
-
-
3Gain-
SIN3Ap.E840G
Missense
SNP
0.536
2--
SINHCAF-
-
-
-
3Gain-
SIPA1L1-
-
-
-
3Gain-
SIRT4-
-
-
-
3Gain-
SIVA1-
-
-
-
3Gain-
SIX1-
-
-
-
3Gain-
SIX2-
-
-
-
1Loss-
SIX3-
-
-
-
1Loss-
SIX4-
-
-
-
3Gain-
SIX6-
-
-
-
3Gain-
SKP1-
-
-
-
3Gain-
SKP2-
-
-
-
3Gain-
SLAp.R173H
Missense
SNP
0.514
2--
SLC10A1-
-
-
-
3Gain-
SLC11A2-
-
-
-
3Gain-
SLC12A2-
-
-
-
3Gain-
SLC12A7-
-
-
-
3Gain-
SLC15A4-
-
-
-
3Gain-
SLC15A5-
-
-
-
3Gain-
SLC16A7-
-
-
-
3Gain-
SLC17A6p.E559K
Missense
SNP
0.520
2--
SLC17A8-
-
-
-
3Gain-
SLC1A3-
-
-
-
3Gain-
SLC22A1p.A257T
Missense
SNP
0.492
2--
SLC22A15p.A212T
Missense
SNP
0.167
2--
SLC22A17-
-
-
-
3Gain-
SLC22A4-
-
-
-
3Gain-
SLC22A5-
-
-
-
3Gain-
SLC23A1-
-
-
-
3Gain-
SLC24A4-
-
-
-
3Gain-
SLC25A2-
-
-
-
3Gain-
SLC25A21-
-
-
-
3Gain-
SLC25A29-
-
-
-
3Gain-
SLC25A3-
-
-
-
3Gain-
SLC25A37p.E98K
Missense
SNP
0.483
2--
SLC25A46-
-
-
-
3Gain-
SLC25A47-
-
-
-
3Gain-
SLC25A48-
-
-
-
3Gain-
SLC26A10-
-
-
-
3Gain-
SLC26A2-
-
-
-
3Gain-
SLC27A6-
-
-
-
3Gain-
SLC2A13-
-
-
-
3Gain-
SLC2A14-
-
-
-
3Gain-
SLC2A3-
-
-
-
3Gain-
SLC30A5-
-
-
-
3Gain-
SLC34A1-
-
-
-
3Gain-
SLC35A4-
-
-
-
3Gain-
SLC35E3-
-
-
-
3Gain-
SLC35F4-
-
-
-
3Gain-
SLC36A1-
-
-
-
3Gain-
SLC36A2-
-
-
-
3Gain-
SLC36A3-
-
-
-
3Gain-
SLC38A1-
-
-
-
3Gain-
SLC38A2-
-
-
-
3Gain-
SLC38A4-
-
-
-
3Gain-
SLC38A6-
-
-
-
3Gain-
SLC38A9-
-
-
-
3Gain-
SLC39A2-
-
-
-
3Gain-
SLC39A5-
-
-
-
3Gain-
SLC39A9-
-
-
-
3Gain-
SLC3A1-
-
-
-
1Loss-
SLC41A2-
-
-
-
3Gain-
SLC45A2-
-
-
-
3Gain-
SLC48A1-
-
-
-
3Gain-
SLC4A8-
-
-
-
3Gain-
SLC4A9p.P559H
Missense
SNP
0.292
3Gain-
SLC5A8-
-
-
-
3Gain-
SLC6A12-
-
-
-
3Gain-
SLC6A13-
-
-
-
3Gain-
SLC6A15-
-
-
-
3Gain-
SLC6A18-
-
-
-
3Gain-
SLC6A19-
-
-
-
3Gain-
SLC6A3p.R601H
Missense
SNP
0.382
3Gain-
SLC6A7-
-
-
-
3Gain-
SLC7A7-
-
-
-
3Gain-
SLC7A8-
-
-
-
3Gain-
SLC8A3-
-
-
-
3Gain-
SLC8B1-
-
-
-
3Gain-
SLC9A3-
-
-
-
3Gain-
SLCO1A2-
-
-
-
3Gain-
SLCO1B1-
-
-
-
3Gain-
SLCO1B3-
-
-
-
3Gain-
SLCO1B7-
-
-
-
3Gain-
SLCO1C1-
-
-
-
3Gain-
SLCO4C1-
-
-
-
3Gain-
SLCO6A1-
-
-
-
3Gain-
SLF1-
-
-
-
3Gain-
SLIRP-
-
-
-
3Gain-
SLU7-
-
-
-
3Gain-
SMAD5-
-
-
-
3Gain-
SMAGP-
-
-
-
3Gain-
SMARCC2-
-
-
-
3Gain-
SMARCD1-
-
-
-
3Gain-
SMCO2-
-
-
-
3Gain-
SMCO3-
-
-
-
3Gain-
SMG5p.T506M
Missense
SNP
0.475
2--
SMIM15-
-
-
-
3Gain-
SMIM23-
-
-
-
3Gain-
SMIM3-
-
-
-
3Gain-
SMIM32-
-
-
-
3Gain-
SMIM33-
-
-
-
3Gain-
SMN1-
-
-
-
3Gain-
SMN2-
-
-
-
3Gain-
SMOC1-
-
-
-
3Gain-
SMUG1-
-
-
-
3Gain-
SNAPC1-
-
-
-
3Gain-
SNCAIP-
-
-
-
3Gain-
SNCB-
-
-
-
3Gain-
SNRNP35-
-
-
-
3Gain-
SNRPF-
-
-
-
3Gain-
SNW1-
-
-
-
3Gain-
SNX18-
-
-
-
3Gain-
SNX2-
-
-
-
3Gain-
SNX24-
-
-
-
3Gain-
SNX6-
-
-
-
3Gain-
SOAT2-
-
-
-
3Gain-
SOCS2-
-
-
-
3Gain-
SOCS4-
-
-
-
3Gain-
SOCS5-
-
-
-
1Loss-
SORCS2p.A425T
Missense
SNP
0.569
2--
SOS2-
-
-
-
3Gain-
SOWAHA-
-
-
-
3Gain-
SOX30-
-
-
-
3Gain-
SOX5-
-
-
-
3Gain-
SP1-
-
-
-
3Gain-
SP6p.K312N
Missense
SNP
0.373
2--
SP7-
-
-
-
3Gain-
SPARC-
-
-
-
3Gain-
SPATA24-
-
-
-
3Gain-
SPATA31D1-
-
-
-
1Loss-
SPATA31D3-
-
-
-
1Loss-
SPATA31D4-
-
-
-
1Loss-
SPATA7-
-
-
-
3Gain-
SPATA9-
-
-
-
3Gain-
SPATS2-
-
-
-
3Gain-
SPEF2-
-
-
-
3Gain-
SPIC-
-
-
-
3Gain-
SPINK1-
-
-
-
3Gain-
SPINK13-
-
-
-
3Gain-
SPINK14-
-
-
-
3Gain-
SPINK5-
-
-
-
3Gain-
SPINK6-
-
-
-
3Gain-
SPINK7-
-
-
-
3Gain-
SPINK9-
-
-
-
3Gain-
SPOCK1-
-
-
-
3Gain-
SPPL3-
-
-
-
3Gain-
SPRY4-
-
-
-
3Gain-
SPRYD3-
-
-
-
3Gain-
SPRYD4-
-
-
-
3Gain-
SPSB2-
-
-
-
3Gain-
SPTB-
-
-
-
3Gain-
SPTLC2-
-
-
-
3Gain-
SPTSSA-
-
-
-
3Gain-
SPX-
-
-
-
3Gain-
SPZ1-
-
-
-
3Gain-
SQSTM1-
-
-
-
3Gain-
SRA1-
-
-
-
3Gain-
SRBD1-
-
-
-
1Loss-
SRD5A1-
-
-
-
3Gain-
SREK1-
-
-
-
3Gain-
SREK1IP1-
-
-
-
3Gain-
SRFBP1-
-
-
-
3Gain-
SRGAP1p.A367V
Missense
SNP
0.263
3Gain-
SRP19-
-
-
-
3Gain-
SRP54-
-
-
-
3Gain-
SRRM4-
-
-
-
3Gain-
SRSF5-
-
-
-
3Gain-
SRSF9-
-
-
-
3Gain-
SSBP2-
-
-
-
3Gain-
SSH1-
-
-
-
3Gain-
SSPN-
-
-
-
3Gain-
SSTR1-
-
-
-
3Gain-
ST8SIA1-
-
-
-
3Gain-
ST8SIA4p.R252*
Nonsense
SNP
0.280
3Gain-
STAB1p.C2160Y
Missense
SNP
0.129
2--
STAB2-
-
-
-
3Gain-
STAC3-
-
-
-
3Gain-
STARD4-
-
-
-
3Gain-
STAT2p.T434M
Missense
SNP
0.626
3Gain-
STAT6-
-
-
-
3Gain-
STC2-
-
-
-
3Gain-
STK10p.X664_splice
Splice_Site
SNP
0.227
3Gain-
STK32Ap.R304K
Missense
SNP
0.649
3Gain-
STK38L-
-
-
-
3Gain-
STMND1p.R105Q
Missense
SNP
0.542
2--
STON1-
-
-
-
1Loss-
STON1-GTF2A1L-
-
-
-
1Loss-
STON2-
-
-
-
4Gain-
STPG4-
-
-
-
1Loss-
STRAP-
-
-
-
3Gain-
STRC-
-
-
-
1Loss-
STRN3-
-
-
-
3Gain-
STX1Ap.A261V
Missense
SNP
0.500
2--
STX2-
-
-
-
3Gain-
STXBP5p.A1123V
Missense
SNP
0.306
2--
STXBP6-
-
-
-
3Gain-
STYK1-
-
-
-
3Gain-
STYX-
-
-
-
3Gain-
SUB1-
-
-
-
3Gain-
SUDS3-
-
-
-
3Gain-
SUOX-
-
-
-
3Gain-
SUPT16H-
-
-
-
3Gain-
SUSD2p.A800V
Missense
SNP
0.566
2--
SUSD6-
-
-
-
3Gain-
SV2C-
-
-
-
3Gain-
SVOP-
-
-
-
3Gain-
SYCP3-
-
-
-
3Gain-
SYNDIG1L-
-
-
-
3Gain-
SYNE2-
-
-
-
3Gain-
SYNE3-
-
-
-
3Gain-
SYNGAP1p.A997G
Missense
SNP
0.537
2--
SYNJ2BP-
-
-
-
3Gain-
SYNJ2BP-COX16-
-
-
-
3Gain-
SYNPO-
-
-
-
3Gain-
SYT1-
-
-
-
3Gain-
SYT10-
-
-
-
3Gain-
SYT16-
-
-
-
3Gain-
SZT2p.A762T
Missense
SNP
0.570
2--
TAC3-
-
-
-
3Gain-
TAF1Lp.R1255W
Missense
SNP
0.529
2--
TAF7-
-
-
-
3Gain-
TAF9-
-
-
-
3Gain-
TAOK3-
-
-
-
3Gain-
TAPBPL-
-
-
-
3Gain-
TARBP2-
-
-
-
3Gain-
TARS-
-
-
-
3Gain-
TAS2R1-
-
-
-
3Gain-
TAS2R10-
-
-
-
3Gain-
TAS2R13-
-
-
-
3Gain-
TAS2R14-
-
-
-
3Gain-
TAS2R19-
-
-
-
3Gain-
TAS2R20-
-
-
-
3Gain-
TAS2R30-
-
-
-
3Gain-
TAS2R31-
-
-
-
3Gain-
TAS2R42-
-
-
-
3Gain-
TAS2R46-
-
-
-
3Gain-
TAS2R50-
-
-
-
3Gain-
TAS2R7-
-
-
-
3Gain-
TAS2R8-
-
-
-
3Gain-
TAS2R9-
-
-
-
3Gain-
TBC1D15-
-
-
-
3Gain-
TBC1D2Bp.R302H
Missense
SNP
0.443
2--
TBC1D30-
-
-
-
3Gain-
TBC1D32p.L462V
Missense
SNP
0.517
2--
TBC1D9B-
-
-
-
3Gain-
TBCA-
-
-
-
3Gain-
TBK1-
-
-
-
3Gain-
TBL1XR1p.A295T
Missense
SNP
0.425
2--
TBPL2-
-
-
-
3Gain-
TBX3-
-
-
-
3Gain-
TBX5-
-
-
-
3Gain-
TC2N-
-
-
-
3Gain-
TCEA1p.R192Q
Missense
SNP
0.494
2--
TCERG1-
-
-
-
3Gain-
TCF7-
-
-
-
3Gain-
TCHP-
-
-
-
3Gain-
TCL1A-
-
-
-
3Gain-
TCL1B-
-
-
-
3Gain-
TCOF1-
-
-
-
3Gain-
TCP11L2-
-
-
-
3Gain-
TCTN1-
-
-
-
3Gain-
TCTN2-
-
-
-
3Gain-
TDG-
-
-
-
3Gain-
TDP1-
-
-
-
3Gain-
TDRD9-
-
-
-
3Gain-
TEAD4-
-
-
-
3Gain-
TECPR2-
-
-
-
3Gain-
TEDC1-
-
-
-
3Gain-
TENM2-
-
-
-
3Gain-
TENM3p.L942I
p.A2490T
Missense
Missense
SNP
SNP
0.240
0.492
2--
TENT2-
-
-
-
3Gain-
TENT4A-
-
-
-
3Gain-
TEP1-
-
-
-
3Gain-
TERT-
-
-
-
3Gain-
TESC-
-
-
-
3Gain-
TESPA1-
-
-
-
3Gain-
TEX22-
-
-
-
3Gain-
TEX43-
-
-
-
3Gain-
TEX49-
-
-
-
3Gain-
TEX52-
-
-
-
3Gain-
TFCP2-
-
-
-
3Gain-
TFPI2p.R62H
Missense
SNP
0.517
2--
TFRCp.L178F
Missense
SNP
0.250
2--
TGFB3-
-
-
-
3Gain-
TGFBI-
-
-
-
3Gain-
TGM1-
-
-
-
3Gain-
THADA-
-
-
-
1Loss-
THAP2-
-
-
-
3Gain-
THAP3p.L220F
Missense
SNP
0.414
2--
THBS4-
-
-
-
3Gain-
THG1L-
-
-
-
3Gain-
THOC3-
-
-
-
3Gain-
THTPA-
-
-
-
3Gain-
TIFAB-
-
-
-
3Gain-
TIGAR-
-
-
-
3Gain-
TIGD6-
-
-
-
3Gain-
TIMD4-
-
-
-
3Gain-
TIMELESS-
-
-
-
3Gain-
TIMM9-
-
-
-
3Gain-
TINF2-
-
-
-
3Gain-
TLE1p.A465V
Missense
SNP
0.295
2--
TLX3-
-
-
-
3Gain-
TM7SF3-
-
-
-
3Gain-
TM9SF1-
-
-
-
3Gain-
TMBIM4-
-
-
-
3Gain-
TMBIM6-
-
-
-
3Gain-
TMCC3-
-
-
-
3Gain-
TMCO6-
-
-
-
3Gain-
TMED10-
-
-
-
3Gain-
TMED2-
-
-
-
3Gain-
TMED7-
-
-
-
3Gain-
TMED7-TICAM2-
-
-
-
3Gain-
TMED8-
-
-
-
3Gain-
TMED9-
-
-
-
3Gain-
TMEM106C-
-
-
-
3Gain-
TMEM116-
-
-
-
3Gain-
TMEM117-
-
-
-
3Gain-
TMEM119-
-
-
-
3Gain-
TMEM120B-
-
-
-
3Gain-
TMEM121p.R37H
Missense
SNP
0.603
3Gain-
TMEM132B-
-
-
-
3Gain-
TMEM132C-
-
-
-
3Gain-
TMEM132Dp.K423N
Missense
SNP
0.275
3Gain-
TMEM161B-
-
-
-
3Gain-
TMEM167A-
-
-
-
3Gain-
TMEM171-
-
-
-
3Gain-
TMEM173-
-
-
-
3Gain-
TMEM174-
-
-
-
3Gain-
TMEM179-
-
-
-
3Gain-
TMEM19-
-
-
-
3Gain-
TMEM201p.T42M
Missense
SNP
0.494
2--
TMEM229B-
-
-
-
3Gain-
TMEM232-
-
-
-
3Gain-
TMEM233-
-
-
-
3Gain-
TMEM247-
-
-
-
1Loss-
TMEM251-
-
-
-
3Gain-
TMEM253-
-
-
-
3Gain-
TMEM260-
-
-
-
3Gain-
TMEM263-
-
-
-
3Gain-
TMEM267-
-
-
-
3Gain-
TMEM30B-
-
-
-
3Gain-
TMEM52B-
-
-
-
3Gain-
TMEM63C-
-
-
-
3Gain-
TMPO-
-
-
-
3Gain-
TMPRSS12-
-
-
-
3Gain-
TMTC1-
-
-
-
3Gain-
TMTC2-
-
-
-
3Gain-
TMTC3-
-
-
-
3Gain-
TMX1-
-
-
-
3Gain-
TNFAIP2-
-
-
-
3Gain-
TNFAIP8-
-
-
-
3Gain-
TNFRSF1A-
-
-
-
3Gain-
TNIP1-
-
-
-
3Gain-
TNPO1-
-
-
-
3Gain-
TNS2-
-
-
-
3Gain-
TOGARAM1-
-
-
-
3Gain-
TOMM20L-
-
-
-
3Gain-
TOP3Ap.R439H
Missense
SNP
0.554
2--
TOX4-
-
-
-
3Gain-
TP53p.G244C
Missense
SNP
0.545
2--
TPBGp.R332W
Missense
SNP
0.522
2--
TPCN1-
-
-
-
3Gain-
TPH2-
-
-
-
3Gain-
TPI1-
-
-
-
3Gain-
TPPP-
-
-
-
3Gain-
TPPP2-
-
-
-
3Gain-
TPRG1p.V85I
Missense
SNP
0.509
2--
TRAF3-
-
-
-
3Gain-
TRAFD1-
-
-
-
3Gain-
TRAPPC13-
-
-
-
3Gain-
TRAPPC6B-
-
-
-
3Gain-
TRDV1-
-
-
-
3Gain-
TRHDE-
-
-
-
3Gain-
TRIAP1-
-
-
-
3Gain-
TRIM17p.P76H
Missense
SNP
0.510
2--
TRIM23-
-
-
-
3Gain-
TRIM36-
-
-
-
3Gain-
TRIM41-
-
-
-
3Gain-
TRIM52-
-
-
-
3Gain-
TRIM7-
-
-
-
3Gain-
TRIM9-
-
-
-
3Gain-
TRIO-
-
-
-
3Gain-
TRIP11-
-
-
-
3Gain-
TRIP13-
-
-
-
3Gain-
TRMT5-
-
-
-
3Gain-
TRMT61A-
-
-
-
3Gain-
TROAP-
-
-
-
3Gain-
TRPC7-
-
-
-
3Gain-
TRPV4-
-
-
-
3Gain-
TSFM-
-
-
-
3Gain-
TSHR-
-
-
-
4Gain-
TSLP-
-
-
-
3Gain-
TSPAN11-
-
-
-
3Gain-
TSPAN17-
-
-
-
3Gain-
TSPAN19-
-
-
-
3Gain-
TSPAN31-
-
-
-
3Gain-
TSPAN8-
-
-
-
3Gain-
TSPAN9-
-
-
-
3Gain-
TSSK1B-
-
-
-
3Gain-
TSSK4-
-
-
-
3Gain-
TTC1-
-
-
-
3Gain-
TTC12p.A510V
Missense
SNP
0.130
2--
TTC23L-
-
-
-
3Gain-
TTC33-
-
-
-
3Gain-
TTC37-
-
-
-
3Gain-
TTC5-
-
-
-
3Gain-
TTC6-
-
-
-
3Gain-
TTC7A-
-
-
-
1Loss-
TTC7B-
-
-
-
3Gain-
TTC8-
-
-
-
3Gain-
TTC9-
-
-
-
3Gain-
TTLL5-
-
-
-
3Gain-
TUBA1A-
-
-
-
3Gain-
TUBA1B-
-
-
-
3Gain-
TUBA1C-
-
-
-
3Gain-
TULP3-
-
-
-
3Gain-
TWF1-
-
-
-
3Gain-
TXNDC15-
-
-
-
3Gain-
TXNDC16-
-
-
-
3Gain-
TXNRD1p.P477L
Missense
SNP
0.319
3Gain-
UBC-
-
-
-
3Gain-
UBE2B-
-
-
-
3Gain-
UBE2D2-
-
-
-
3Gain-
UBE2N-
-
-
-
3Gain-
UBE2QL1-
-
-
-
3Gain-
UBE3B-
-
-
-
3Gain-
UBLCP1-
-
-
-
3Gain-
UBR4p.R4967C
Missense
SNP
0.475
2--
UBR7-
-
-
-
3Gain-
UBTD2-
-
-
-
3Gain-
UGT3A1-
-
-
-
3Gain-
UGT3A2-
-
-
-
3Gain-
UHRF1BP1L-
-
-
-
3Gain-
UIMC1-
-
-
-
3Gain-
ULK1-
-
-
-
3Gain-
UNC119B-
-
-
-
3Gain-
UNC5A-
-
-
-
3Gain-
UNC5Bp.G509D
Missense
SNP
0.454
NDND-
UNC79-
-
-
-
3Gain-
UNG-
-
-
-
3Gain-
UQCRQ-
-
-
-
3Gain-
URB2p.P561H
Missense
SNP
0.109
2--
USP15-
-
-
-
3Gain-
USP30-
-
-
-
3Gain-
USP44-
-
-
-
3Gain-
USP5-
-
-
-
3Gain-
UTP15-
-
-
-
3Gain-
UTP20-
-
-
-
3Gain-
VAMP1-
-
-
-
3Gain-
VASH1-
-
-
-
3Gain-
VCAN-
-
-
-
3Gain-
VCPKMT-
-
-
-
3Gain-
VDAC1-
-
-
-
3Gain-
VDR-
-
-
-
3Gain-
VEZT-
-
-
-
3Gain-
VIPAS39-
-
-
-
3Gain-
VPS29-
-
-
-
3Gain-
VPS33A-
-
-
-
3Gain-
VPS37B-
-
-
-
3Gain-
VPS9D1p.V621M
Missense
SNP
0.433
2--
VRK1-
-
-
-
3Gain-
VRTN-
-
-
-
3Gain-
VSIG10-
-
-
-
3Gain-
VSX1p.P58L
Missense
SNP
0.739
2--
VSX2p.R133*
Nonsense
SNP
0.351
3Gain-
VTI1B-
-
-
-
3Gain-
VTNp.E57*
Nonsense
SNP
0.477
2--
VWA7p.G556C
Missense
SNP
0.397
2--
VWF-
-
-
-
3Gain-
WARS-
-
-
-
3Gain-
WASp.R157H
Missense
SNP
1.000
NDND-
WASHC3-
-
-
-
3Gain-
WASHC4-
-
-
-
3Gain-
WBP11-
-
-
-
3Gain-
WDHD1-
-
-
-
3Gain-
WDR13p.R32H
Missense
SNP
1.000
NDND-
WDR20-
-
-
-
3Gain-
WDR25-
-
-
-
3Gain-
WDR36-
-
-
-
3Gain-
WDR41-
-
-
-
3Gain-
WDR55-
-
-
-
3Gain-
WDR66-
-
-
-
3Gain-
WDR70-
-
-
-
3Gain-
WDR89-
-
-
-
3Gain-
WDTC1p.R409H
Missense
SNP
0.600
2--
WIF1-
-
-
-
3Gain-
WNK1-
-
-
-
3Gain-
WNT1-
-
-
-
3Gain-
WNT10Ap.R113H
Missense
SNP
0.476
2--
WNT10B-
-
-
-
3Gain-
WNT5B-
-
-
-
3Gain-
WNT8A-
-
-
-
3Gain-
WSB2-
-
-
-
3Gain-
WSCD2-
-
-
-
3Gain-
WWOXp.S351Y
Missense
SNP
0.471
2--
XCR1p.E179K
Missense
SNP
0.508
2--
XPO6p.E876K
Missense
SNP
0.120
2--
XPOT-
-
-
-
3Gain-
XRCC3-
-
-
-
3Gain-
XRCC4-
-
-
-
3Gain-
YAF2-
-
-
-
3Gain-
YARS2-
-
-
-
3Gain-
YBX3-
-
-
-
3Gain-
YEATS4-
-
-
-
3Gain-
YIPF5-
-
-
-
3Gain-
YLPM1-
-
-
-
3Gain-
YTHDC2-
-
-
-
3Gain-
YY1-
-
-
-
3Gain-
ZBED3-
-
-
-
3Gain-
ZBED8-
-
-
-
3Gain-
ZBTB1-
-
-
-
3Gain-
ZBTB25-
-
-
-
3Gain-
ZBTB39-
-
-
-
3Gain-
ZBTB41p.R585C
Missense
SNP
0.565
2--
ZBTB42-
-
-
-
3Gain-
ZC2HC1C-
-
-
-
3Gain-
ZC3H10-
-
-
-
3Gain-
ZC3H14-
-
-
-
3Gain-
ZCCHC10-
-
-
-
3Gain-
ZCCHC8-
-
-
-
3Gain-
ZCCHC9-
-
-
-
3Gain-
ZCRB1-
-
-
-
3Gain-
ZDHHC11-
-
-
-
3Gain-
ZDHHC11B-
-
-
-
3Gain-
ZDHHC17-
-
-
-
3Gain-
ZDHHC22-
-
-
-
3Gain-
ZFC3H1-
-
-
-
3Gain-
ZFHX2-
-
-
-
3Gain-
ZFHX4p.K2362E
Missense
SNP
0.143
2--
ZFP2-
-
-
-
3Gain-
ZFP36L1-
-
-
-
3Gain-
ZFP36L2-
-
-
-
1Loss-
ZFP62-
-
-
-
3Gain-
ZFR-
-
-
-
3Gain-
ZFYVE1-
-
-
-
3Gain-
ZFYVE16-
-
-
-
3Gain-
ZFYVE21-
-
-
-
3Gain-
ZFYVE26-
-
-
-
3Gain-
ZMAT2-
-
-
-
3Gain-
ZNF10-
-
-
-
3Gain-
ZNF100-
-
-
-
1Loss-
ZNF107p.K395N
Missense
SNP
0.472
2--
ZNF131-
-
-
-
3Gain-
ZNF14-
-
-
-
1Loss-
ZNF140-
-
-
-
3Gain-
ZNF208-
-
-
-
1Loss-
ZNF219-
-
-
-
3Gain-
ZNF253-
-
-
-
1Loss-
ZNF257-
-
-
-
1Loss-
ZNF26-
-
-
-
3Gain-
ZNF268-
-
-
-
3Gain-
ZNF281p.A579T
Missense
SNP
0.552
2--
ZNF300-
-
-
-
3Gain-
ZNF346-
-
-
-
3Gain-
ZNF354A-
-
-
-
3Gain-
ZNF354B-
-
-
-
3Gain-
ZNF354C-
-
-
-
3Gain-
ZNF366-
-
-
-
3Gain-
ZNF384-
-
-
-
3Gain-
ZNF385A-
-
-
-
3Gain-
ZNF410-
-
-
-
3Gain-
ZNF423p.T753M
p.R417W
Missense
Missense
SNP
SNP
0.525
0.520
2--
ZNF429-
-
-
-
1Loss-
ZNF43-
-
-
-
1Loss-
ZNF430-
-
-
-
1Loss-
ZNF431-
-
-
-
1Loss-
ZNF454-
-
-
-
3Gain-
ZNF474-
-
-
-
3Gain-
ZNF486-
-
-
-
1Loss-
ZNF492-
-
-
-
1Loss-
ZNF493-
-
-
-
1Loss-
ZNF506-
-
-
-
1Loss-
ZNF521p.G1134R
Missense
SNP
0.157
2--
ZNF605-
-
-
-
3Gain-
ZNF608-
-
-
-
3Gain-
ZNF622-
-
-
-
3Gain-
ZNF626-
-
-
-
1Loss-
ZNF641-
-
-
-
3Gain-
ZNF66-
-
-
-
1Loss-
ZNF664-
-
-
-
3Gain-
ZNF675-
-
-
-
1Loss-
ZNF676-
-
-
-
1Loss-
ZNF681-
-
-
-
1Loss-
ZNF682-
-
-
-
1Loss-
ZNF705A-
-
-
-
3Gain-
ZNF708-
-
-
-
1Loss-
ZNF714-
-
-
-
1Loss-
ZNF723-
-
-
-
1Loss-
ZNF724-
-
-
-
1Loss-
ZNF728-
-
-
-
1Loss-
ZNF729-
-
-
-
1Loss-
ZNF730-
-
-
-
1Loss-
ZNF737-
-
-
-
1Loss-
ZNF738-
-
-
-
1Loss-
ZNF740-
-
-
-
3Gain-
ZNF776p.R258H
Missense
SNP
0.481
2--
ZNF808p.R802H
Missense
SNP
0.493
2--
ZNF831p.V501I
Missense
SNP
0.471
2--
ZNF835p.R81Q
Missense
SNP
0.431
2--
ZNF839-
-
-
-
3Gain-
ZNF84-
-
-
-
3Gain-
ZNF85-
-
-
-
1Loss-
ZNF879-
-
-
-
3Gain-
ZNF891-
-
-
-
3Gain-
ZNF90-
-
-
-
1Loss-
ZNF91-
-
-
-
1Loss-
ZNF93-
-
-
-
1Loss-
ZNF98-
-
-
-
1Loss-
ZNF99-
-
-
-
1Loss-
ZRANB3p.R169C
Missense
SNP
0.481
2--
ZSCAN29p.D356N
Missense
SNP
0.364
2--
ZSWIM6-
-
-
-
3Gain-