PDMR-381249~077-R~GFKUZ6-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsNo Data
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AAMDC-
-
-
-
3GainND
ABCG4-
-
-
-
3GainND
ABL1p.P937L
Missense
SNP
0.444
2-ND
AC007326.4-
-
-
-
1LossND
AC093668.1-
-
-
-
0DelND
AC093668.2-
-
-
-
0DelND
AC093668.3-
-
-
-
0DelND
AC105052.1-
-
-
-
0DelND
AC105052.3-
-
-
-
0DelND
ACAD8-
-
-
-
3GainND
ACER3-
-
-
-
3GainND
ACRV1-
-
-
-
3GainND
ACVR1p.R375H
Missense
SNP
0.450
2-ND
ACY3-
-
-
-
3GainND
ADAM29p.R723H
Missense
SNP
0.469
2-ND
ADAMTS15-
-
-
-
3GainND
ADAMTS8-
-
-
-
3GainND
ADD1p.V585I
Missense
SNP
0.569
2-ND
AIP-
-
-
-
3GainND
ALDH3B1-
-
-
-
3GainND
ALDH3B2-
-
-
-
3GainND
ALG8-
-
-
-
3GainND
AMOTL1-
-
-
-
3GainND
ANAPC15-
-
-
-
3GainND
ANGPTL5-
-
-
-
3GainND
ANKRD42-
-
-
-
3GainND
ANKRD49-
-
-
-
3GainND
ANO1-
-
-
-
3GainND
AP000646.1-
-
-
-
3GainND
AP000812.4-
-
-
-
3GainND
AP000812.5-
-
-
-
3GainND
AP001267.5-
-
-
-
3GainND
AP001273.2-
-
-
-
3GainND
AP002495.1-
-
-
-
3GainND
AP4E1p.L1113M
Missense
SNP
0.471
2-ND
APLP2-
-
-
-
3GainND
APOA1-
-
-
-
3GainND
APOA4-
-
-
-
3GainND
APOA5-
-
-
-
3GainND
APOC3-
-
-
-
3GainND
AQP11-
-
-
-
3GainND
AQP8p.R33W
Missense
SNP
0.253
2-ND
ARAP1-
-
-
-
3GainND
ARCN1-
-
-
-
3GainND
ARHGAP32-
-
-
-
3GainND
ARHGAP42-
-
-
-
3GainND
ARHGEF12-
-
-
-
3GainND
ARHGEF17-
-
-
-
3GainND
ARRB1-
-
-
-
3GainND
ARSFp.A112P
Missense
SNP
0.386
NDNDND
ATG16L2-
-
-
-
3GainND
ATP5ME-
-
-
-
1LossND
ATP5MG-
-
-
-
3GainND
ATRIPp.C487Y
Missense
SNP
0.565
2-ND
AUP1p.R227C
Missense
SNP
0.474
2-ND
B3GAT1-
-
-
-
3GainND
B3GNT6p.G221D
Missense
SNP
0.453
3GainND
B4GALNT4p.V625M
Missense
SNP
0.495
2-ND
BACE1-
-
-
-
3GainND
BARX2-
-
-
-
3GainND
BCL9p.R371C
Missense
SNP
0.534
2-ND
BCL9L-
-
-
-
3GainND
BICC1p.K156*
Nonsense
SNP
0.486
2-ND
BIRC2-
-
-
-
3GainND
BIRC3-
-
-
-
3GainND
BLID-
-
-
-
3GainND
BRINP3p.R159*
Nonsense
SNP
0.462
2-ND
BRPF3p.R897C
Missense
SNP
0.514
2-ND
BSNDp.D3N
Missense
SNP
0.451
2-ND
BSX-
-
-
-
3GainND
BUD13-
-
-
-
3GainND
C11orf24-
-
-
-
3GainND
C11orf45-
-
-
-
3GainND
C11orf54-
-
-
-
3GainND
C11orf97-
-
-
-
3GainND
C12orf42p.P244L
Missense
SNP
0.472
2-ND
C1QTNF5-
-
-
-
3GainND
C2CD2L-
-
-
-
3GainND
C2CD3-
-
-
-
3GainND
C4orf48-
-
-
-
1LossND
C6orf47p.P214L
Missense
SNP
0.469
2-ND
CABP2-
-
-
-
3GainND
CABP4-
-
-
-
3GainND
CAPN5-
-
-
-
3GainND
CARD16-
-
-
-
3GainND
CARD17-
-
-
-
3GainND
CARD18-
-
-
-
3GainND
CARNS1-
-
-
-
3GainND
CASP1-
-
-
-
3GainND
CASP12-
-
-
-
3GainND
CASP4-
-
-
-
3GainND
CASP5-
-
-
-
3GainND
CASS4p.S232N
Missense
SNP
0.448
2-ND
CBL-
-
-
-
3GainND
CCDC15-
-
-
-
3GainND
CCDC153-
-
-
-
3GainND
CCDC39p.R214C
Missense
SNP
0.490
2-ND
CCDC53p.T37I
Missense
SNP
0.502
NDNDND
CCDC77p.X348_splice
Splice_Site
SNP
0.400
2-ND
CCDC81-
-
-
-
3GainND
CCDC82-
-
-
-
3GainND
CCDC83-
-
-
-
3GainND
CCDC84-
-
-
-
3GainND
CCDC89-
-
-
-
3GainND
CCDC90B-
-
-
-
3GainND
CCND1-
-
-
-
3GainND
CD3D-
-
-
-
3GainND
CD3E-
-
-
-
3GainND
CD3G-
-
-
-
3GainND
CD93p.V32M
Missense
SNP
0.443
2-ND
CDK2AP2-
-
-
-
3GainND
CDON-
-
-
-
3GainND
CEP126-
-
-
-
3GainND
CEP164-
-
-
-
3GainND
CEP295-
-
-
-
3GainND
CEP57-
-
-
-
3GainND
CFAP300-
-
-
-
3GainND
CFAP99-
-
-
-
1LossND
CHADLp.R708S
Missense
SNP
0.611
2-ND
CHEK1-
-
-
-
3GainND
CHKA-
-
-
-
3GainND
CHL1p.G874E
Missense
SNP
0.459
2-ND
CHORDC1-
-
-
-
3GainND
CHRDL2-
-
-
-
3GainND
CILP2p.G779D
Missense
SNP
0.496
2-ND
CIZ1p.R740*
Nonsense
SNP
0.476
2-ND
CLEC14Ap.R161*
Nonsense
SNP
0.477
2-ND
CLMP-
-
-
-
3GainND
CLNS1A-
-
-
-
3GainND
CLPB-
-
-
-
3GainND
CNTN5-
-
-
-
3GainND
CNTNAP2-
-
-
-
3GainND
COA4-
-
-
-
3GainND
CORO1B-
-
-
-
3GainND
CORO2Bp.R13C
Missense
SNP
0.251
2-ND
CPLX1-
-
-
-
1LossND
CPT1A-
-
-
-
3GainND
CREBZF-
-
-
-
3GainND
CRTAM-
-
-
-
3GainND
CSMD3p.V1571I
Missense
SNP
0.738
2-ND
CTBP1-
-
-
-
1LossND
CTNNA2p.A133V
Missense
SNP
0.498
2-ND
CTSC-
-
-
-
3GainND
CTTN-
-
-
-
3GainND
CWC15-
-
-
-
3GainND
CXCR5-
-
-
-
3GainND
DCPS-
-
-
-
3GainND
DDIAS-
-
-
-
3GainND
DDX25-
-
-
-
3GainND
DDX54p.I393V
Missense
SNP
0.414
2-ND
DDX6-
-
-
-
3GainND
DEUP1-
-
-
-
3GainND
DGAT2-
-
-
-
3GainND
DGCR6-
-
-
-
1LossND
DGKQ-
-
-
-
1LossND
DHCR7-
-
-
-
3GainND
DLG2-
-
-
-
3GainND
DNAJB13-
-
-
-
3GainND
DNAJC18p.A3V
Missense
SNP
0.529
2-ND
DOCK11p.E394A
Missense
SNP
0.270
NDNDND
DPAGT1-
-
-
-
3GainND
DSCAML1p.T1105M
p.A917T
Missense
Missense
SNP
SNP
0.443
0.504
3GainND
EED-
-
-
-
3GainND
EI24-
-
-
-
3GainND
ELFN2p.R739H
Missense
SNP
0.464
2-ND
EMSY-
-
-
-
3GainND
ENDOD1-
-
-
-
3GainND
ERC2p.A835T
Missense
SNP
0.371
2-ND
ESAM-
-
-
-
3GainND
ETS1-
-
-
-
3GainND
FADD-
-
-
-
3GainND
FAM110Dp.P79L
Missense
SNP
0.441
2-ND
FAM118B-
-
-
-
3GainND
FAM168A-
-
-
-
3GainND
FAM181B-
-
-
-
3GainND
FAM185A-
-
-
-
0DelND
FAM53A-
-
-
-
1LossND
FAM76B-
-
-
-
3GainND
FAM86C1-
-
-
-
3GainND
FAT3-
-
-
-
3GainND
FAT4p.I3286M
Missense
SNP
0.479
2-ND
FBXL13-
-
-
-
0DelND
FCHSD2-
-
-
-
3GainND
FEZ1-
-
-
-
3GainND
FGF19-
-
-
-
3GainND
FGF3-
-
-
-
3GainND
FGF4-
-
-
-
3GainND
FGFR3-
-
-
-
1LossND
FGFRL1-
-
-
-
1LossND
FLGp.G2251*
Nonsense
SNP
0.514
2-ND
FLI1-
-
-
-
3GainND
FLRT2-
-
-
-
3GainND
FOLR1-
-
-
-
3GainND
FOLR2-
-
-
-
3GainND
FOLR3-
-
-
-
3GainND
FOXR1-
-
-
-
3GainND
FOXRED1-
-
-
-
3GainND
FP565260.1-
-
-
-
1LossND
FP565260.2-
-
-
-
1LossND
FP565260.3-
-
-
-
1LossND
FP565260.4-
-
-
-
1LossND
FUT4-
-
-
-
3GainND
FXYD2-
-
-
-
3GainND
FXYD6-
-
-
-
3GainND
FXYD6-FXYD2-
-
-
-
3GainND
FZD4-
-
-
-
3GainND
GAB2-
-
-
-
3GainND
GAGE1p.T107M
Missense
SNP
0.105
NDNDND
GAK-
-
-
-
1LossND
GAL-
-
-
-
3GainND
GATD3B-
-
-
-
1LossND
GDPD4-
-
-
-
3GainND
GDPD5-
-
-
-
3GainND
GLB1L2-
-
-
-
3GainND
GLB1L3-
-
-
-
3GainND
GLRA4p.R106H
Missense
SNP
0.559
NDNDND
GPR152-
-
-
-
3GainND
GPR83-
-
-
-
3GainND
GRAMD1B-
-
-
-
3GainND
GRIA4-
-
-
-
3GainND
GRIK4-
-
-
-
3GainND
GRM5-
-
-
-
3GainND
GSTP1-
-
-
-
3GainND
GTF3C1p.R1245C
Missense
SNP
0.518
2-ND
GUF1p.R631Q
Missense
SNP
0.355
2-ND
GVQW3-
-
-
-
3GainND
H2AFX-
-
-
-
3GainND
HAUS3-
-
-
-
1LossND
HEPACAM-
-
-
-
3GainND
HEPHL1-
-
-
-
3GainND
HEPN1-
-
-
-
3GainND
HIKESHI-
-
-
-
3GainND
HINFP-
-
-
-
3GainND
HMBS-
-
-
-
3GainND
HNRNPABp.S296L
Missense
SNP
0.496
2-ND
HRNRp.H893Q
Missense
SNP
0.450
2-ND
HSPA8-
-
-
-
3GainND
HYLS1-
-
-
-
3GainND
HYOU1p.R98S
Missense
SNP
0.543
3GainND
IDUA-
-
-
-
1LossND
IFT140p.E790K
Missense
SNP
0.481
2-ND
IFT46-
-
-
-
3GainND
IGHMBP2-
-
-
-
3GainND
IGSF9B-
-
-
-
3GainND
IL10RA-
-
-
-
3GainND
IL18BP-
-
-
-
3GainND
INPPL1-
-
-
-
3GainND
INTS4-
-
-
-
3GainND
IREB2p.R51*
Nonsense
SNP
0.388
2-ND
IZUMO1R-
-
-
-
3GainND
JAM3-
-
-
-
3GainND
JAML-
-
-
-
3GainND
JHY-
-
-
-
3GainND
JRKL-
-
-
-
3GainND
KANK4p.R219Q
Missense
SNP
0.481
2-ND
KCNA7p.A262T
Missense
SNP
0.495
2-ND
KCND2-
-
-
-
3GainND
KCNE3-
-
-
-
3GainND
KCNJ1-
-
-
-
3GainND
KCNJ5-
-
-
-
3GainND
KCTD14-
-
-
-
3GainND
KCTD21-
-
-
-
3GainND
KDM4D-
-
-
-
3GainND
KDM4E-
-
-
-
3GainND
KDM4F-
-
-
-
3GainND
KIAA1024p.P754L
Missense
SNP
0.564
2-ND
KIF13Bp.R306S
Missense
SNP
0.480
2-ND
KIRREL3-
-
-
-
3GainND
KLHL35-
-
-
-
3GainND
KMT2A-
-
-
-
3GainND
KMT5B-
-
-
-
3GainND
KRASp.G13D
Missense
SNP
0.425
2-ND
KRT10p.R370H
Missense
SNP
0.279
2-ND
KRTAP5-10-
-
-
-
3GainND
KRTAP5-11-
-
-
-
3GainND
KRTAP5-7-
-
-
-
3GainND
KRTAP5-8-
-
-
-
3GainND
KRTAP5-9-
-
-
-
3GainND
LAMTOR1-
-
-
-
3GainND
LDOC1Lp.R163C
Missense
SNP
0.231
NDNDND
LETM1-
-
-
-
1LossND
LIPT2-
-
-
-
3GainND
LRP12p.R746*
Nonsense
SNP
0.430
2-ND
LRP1Bp.P1257H
Missense
SNP
0.389
2-ND
LRP5-
-
-
-
3GainND
LRRC32-
-
-
-
3GainND
LRRIQ3-
-
-
-
3GainND
LRRTM1p.A395V
Missense
SNP
0.547
2-ND
LRTOMT-
-
-
-
3GainND
LTN1p.A211T
Missense
SNP
0.459
2-ND
LTO1-
-
-
-
3GainND
MAB21L1p.E75K
Missense
SNP
0.270
2-ND
MAEA-
-
-
-
1LossND
MAGEL2p.R899C
Missense
SNP
0.490
2-ND
MAML2-
-
-
-
3GainND
MAP6-
-
-
-
3GainND
MARCH7p.T36S
Missense
SNP
0.340
2-ND
MAXp.H28R
Missense
SNP
0.539
2-ND
MCAM-
-
-
-
3GainND
ME3-
-
-
-
3GainND
MED12p.R1627C
Missense
SNP
0.470
NDNDND
MED17-
-
-
-
3GainND
MFRP-
-
-
-
3GainND
MIOSp.R395C
Missense
SNP
0.109
2-ND
MIS18BP1p.R237Q
Missense
SNP
0.471
2-ND
MISPp.A196V
Missense
SNP
0.475
2-ND
MMP1-
-
-
-
3GainND
MMP10-
-
-
-
3GainND
MMP12-
-
-
-
3GainND
MMP13-
-
-
-
3GainND
MMP20-
-
-
-
3GainND
MMP27-
-
-
-
3GainND
MMP3-
-
-
-
3GainND
MMP7-
-
-
-
3GainND
MMP8-
-
-
-
3GainND
MOGAT2-
-
-
-
3GainND
MPZL2-
-
-
-
3GainND
MPZL3-
-
-
-
3GainND
MRE11-
-
-
-
3GainND
MRGPRD-
-
-
-
3GainND
MRGPRF-
-
-
-
3GainND
MRPL11p.R154C
Missense
SNP
0.473
2-ND
MRPL21-
-
-
-
3GainND
MRPL48-
-
-
-
3GainND
MSANTD2-
-
-
-
3GainND
MTMR2-
-
-
-
3GainND
MTNR1B-
-
-
-
3GainND
MUC17p.R2342C
Missense
SNP
0.505
2-ND
MXD4-
-
-
-
1LossND
MYEOV-
-
-
-
3GainND
MYL5-
-
-
-
1LossND
MYO10p.A745V
Missense
SNP
0.188
2-ND
MYO18Ap.R15W
Missense
SNP
0.442
2-ND
MYO7A-
-
-
-
3GainND
NAALAD2-
-
-
-
3GainND
NADSYN1-
-
-
-
3GainND
NARS2-
-
-
-
3GainND
NAT8L-
-
-
-
1LossND
NCAPD3-
-
-
-
3GainND
NDUFA4-
-
-
-
3GainND
NDUFC2-
-
-
-
3GainND
NDUFC2-KCTD14-
-
-
-
3GainND
NDUFS8-
-
-
-
3GainND
NDUFV1-
-
-
-
3GainND
NECTIN1-
-
-
-
3GainND
NEGR1-
-
-
-
3GainND
NELFA-
-
-
-
1LossND
NEU3-
-
-
-
3GainND
NFRKB-
-
-
-
3GainND
NKX1-1-
-
-
-
1LossND
NLRX1-
-
-
-
3GainND
NOX4-
-
-
-
3GainND
NPHP3p.N123K
Missense
SNP
0.483
2-ND
NRGN-
-
-
-
3GainND
NSD2-
-
-
-
1LossND
NTM-
-
-
-
3GainND
NUDT8-
-
-
-
3GainND
NUMA1-
-
-
-
3GainND
NUP205p.R1990*
Nonsense
SNP
0.370
2-ND
OAF-
-
-
-
3GainND
OBSCNp.A470T
Missense
SNP
0.490
2-ND
OMP-
-
-
-
3GainND
OPCML-
-
-
-
3GainND
OR10D3-
-
-
-
3GainND
OR10G4-
-
-
-
3GainND
OR10G7-
-
-
-
3GainND
OR10G8-
-
-
-
3GainND
OR10G9-
-
-
-
3GainND
OR10S1-
-
-
-
3GainND
OR2AT4-
-
-
-
3GainND
OR4D5-
-
-
-
3GainND
OR4K5p.S6Y
Missense
SNP
0.517
2-ND
OR6M1-
-
-
-
3GainND
OR6T1-
-
-
-
3GainND
OR6X1-
-
-
-
3GainND
OR8A1-
-
-
-
3GainND
OR8B12-
-
-
-
3GainND
OR8B2-
-
-
-
3GainND
OR8B3-
-
-
-
3GainND
OR8B4-
-
-
-
3GainND
OR8B8-
-
-
-
3GainND
OR8D1-
-
-
-
3GainND
OR8D2-
-
-
-
3GainND
OR8D4-
-
-
-
3GainND
OR8G1-
-
-
-
3GainND
OR8G5-
-
-
-
3GainND
P2RY2-
-
-
-
3GainND
P2RY6-
-
-
-
3GainND
P4HA3-
-
-
-
3GainND
PAAF1-
-
-
-
3GainND
PABPC3p.E149K
Missense
SNP
0.427
2-ND
PAFAH1B2-
-
-
-
3GainND
PAGE1p.R11H
Missense
SNP
0.518
NDNDND
PAK1-
-
-
-
3GainND
PANX1-
-
-
-
3GainND
PANX3-
-
-
-
3GainND
PARP3p.R415C
Missense
SNP
0.481
2-ND
PATE1-
-
-
-
3GainND
PATE2-
-
-
-
3GainND
PATE3-
-
-
-
3GainND
PATE4-
-
-
-
3GainND
PCF11-
-
-
-
3GainND
PCGF3-
-
-
-
1LossND
PCIF1p.E200K
Missense
SNP
0.610
2-ND
PCSK7-
-
-
-
3GainND
PDE2A-
-
-
-
3GainND
PDE6Bp.A471T
Missense
SNP
0.692
1LossND
PDZD3-
-
-
-
3GainND
PGM2L1-
-
-
-
3GainND
PGR-
-
-
-
3GainND
PHF14-
-
-
-
3GainND
PHLDB1-
-
-
-
3GainND
PHOX2A-
-
-
-
3GainND
PICALM-
-
-
-
3GainND
PIGG-
-
-
-
1LossND
PIK3R1p.R358*
p.X582_splice
Nonsense
Splice_Site
SNP
SNP
0.463
0.559
2-ND
PITPNM1-
-
-
-
3GainND
PIWIL4-
-
-
-
3GainND
PKNOX2-
-
-
-
3GainND
PLEKHB1-
-
-
-
3GainND
PLOD1p.H225R
Missense
SNP
0.545
2-ND
PODXLp.V107M
Missense
SNP
0.477
2-ND
POLD3-
-
-
-
3GainND
POLN-
-
-
-
1LossND
POLR2J2-
-
-
-
0DelND
POLR2J3-
-
-
-
0DelND
POU2F3-
-
-
-
3GainND
PPFIA1-
-
-
-
3GainND
PPFIBP2p.R110C
Missense
SNP
0.522
2-ND
PPM1Fp.R167H
Missense
SNP
0.424
2-ND
PPME1-
-
-
-
3GainND
PPP1CA-
-
-
-
3GainND
PPP2CAp.R206H
Missense
SNP
0.475
2-ND
PPP6R3-
-
-
-
3GainND
PRCP-
-
-
-
3GainND
PRDM10-
-
-
-
3GainND
PRODH-
-
-
-
1LossND
PRR5Lp.V11I
Missense
SNP
0.242
2-ND
PRSS23-
-
-
-
3GainND
PTPRCAP-
-
-
-
3GainND
PTPRDp.P1257L
Missense
SNP
0.532
2-ND
PTPRSp.A918V
Missense
SNP
0.536
2-ND
PTRFp.E188K
Missense
SNP
0.510
NDNDND
PUS3-
-
-
-
3GainND
RAB11FIP1p.A413S
Missense
SNP
0.491
2-ND
RAB30-
-
-
-
3GainND
RAB38-
-
-
-
3GainND
RAB6A-
-
-
-
3GainND
RAD9A-
-
-
-
3GainND
RASA4-
-
-
-
0DelND
RELT-
-
-
-
3GainND
RGPD1-
-
-
-
0DelND
RGPD2-
-
-
-
0DelND
RNF121-
-
-
-
3GainND
RNF169-
-
-
-
3GainND
RNF212-
-
-
-
1LossND
RNF214p.R482H
Missense
SNP
0.566
3GainND
RNF223p.S29N
Missense
SNP
0.333
2-ND
RNF26-
-
-
-
3GainND
RNF4-
-
-
-
1LossND
ROBO3-
-
-
-
3GainND
ROBO4-
-
-
-
3GainND
ROCK1-
-
-
-
3GainND
RP1p.R193H
Missense
SNP
0.542
2-ND
RPGRIP1p.E44D
Missense
SNP
0.140
2-ND
RPS25-
-
-
-
3GainND
RPS3-
-
-
-
3GainND
RPS6KB2-
-
-
-
3GainND
RPUSD4-
-
-
-
3GainND
RSAD1p.R396Q
Missense
SNP
0.556
2-ND
RSF1-
-
-
-
3GainND
SC5D-
-
-
-
3GainND
SCN2B-
-
-
-
3GainND
SCN3B-
-
-
-
3GainND
SCN4B-
-
-
-
3GainND
SERINC3p.L5P
Missense
SNP
0.253
2-ND
SERPINF2p.G68*
Nonsense
SNP
0.538
2-ND
SERPINH1-
-
-
-
3GainND
SESN3-
-
-
-
3GainND
SETD2p.R540Q
Missense
SNP
0.475
2-ND
SH2D3Cp.A443S
Missense
SNP
0.606
2-ND
SHANK2-
-
-
-
3GainND
SIAE-
-
-
-
3GainND
SIDT2-
-
-
-
3GainND
SIK3-
-
-
-
3GainND
SKIp.A540V
Missense
SNP
0.559
2-ND
SLBP-
-
-
-
1LossND
SLC22A8p.R50C
Missense
SNP
0.473
2-ND
SLC26A1-
-
-
-
1LossND
SLC36A4-
-
-
-
3GainND
SLC37A2-
-
-
-
3GainND
SLC37A4-
-
-
-
3GainND
SLC38A5p.R339H
Missense
SNP
0.457
NDNDND
SLC45A3p.P309L
Missense
SNP
0.483
2-ND
SLC49A3-
-
-
-
1LossND
SLCO1A2p.E297K
Missense
SNP
0.659
2-ND
SLCO2B1-
-
-
-
3GainND
SMCO4-
-
-
-
3GainND
SNX19-
-
-
-
3GainND
SORL1-
-
-
-
3GainND
SOX3p.R22W
Missense
SNP
0.467
NDNDND
SPA17-
-
-
-
3GainND
SPATA19-
-
-
-
3GainND
SPCS2-
-
-
-
3GainND
SPON2-
-
-
-
1LossND
SRPRA-
-
-
-
3GainND
SRSF8-
-
-
-
3GainND
ST14-
-
-
-
3GainND
ST3GAL4-
-
-
-
3GainND
STARD10-
-
-
-
3GainND
STT3A-
-
-
-
3GainND
SYTL2-
-
-
-
3GainND
TACC3-
-
-
-
1LossND
TAF1p.G1292E
Missense
SNP
0.407
NDNDND
TAF1D-
-
-
-
3GainND
TAGLN-
-
-
-
3GainND
TBC1D10C-
-
-
-
3GainND
TBCEL-
-
-
-
3GainND
TBRG1-
-
-
-
3GainND
TBX10-
-
-
-
3GainND
TCEB3Bp.R235C
Missense
SNP
0.508
NDNDND
TCIRG1-
-
-
-
3GainND
TECTA-
-
-
-
3GainND
TENM4-
-
-
-
3GainND
TESMIN-
-
-
-
3GainND
TEX2p.V785M
Missense
SNP
0.562
2-ND
THAP12-
-
-
-
3GainND
THRSP-
-
-
-
3GainND
THY1-
-
-
-
3GainND
THYN1-
-
-
-
3GainND
TIRAP-
-
-
-
3GainND
TMEM123-
-
-
-
3GainND
TMEM126A-
-
-
-
3GainND
TMEM126B-
-
-
-
3GainND
TMEM129-
-
-
-
1LossND
TMEM132Dp.R853W
Missense
SNP
0.502
2-ND
TMEM134-
-
-
-
3GainND
TMEM135-
-
-
-
3GainND
TMEM136-
-
-
-
3GainND
TMEM175-
-
-
-
1LossND
TMEM178Ap.A141T
Missense
SNP
0.467
2-ND
TMEM218-
-
-
-
3GainND
TMEM225-
-
-
-
3GainND
TMEM25-
-
-
-
3GainND
TMEM45B-
-
-
-
3GainND
TMPRSS13-
-
-
-
3GainND
TMPRSS4-
-
-
-
3GainND
TOR4Ap.A208V
Missense
SNP
0.535
2-ND
TP53AIP1-
-
-
-
3GainND
TPBGL-
-
-
-
3GainND
TPCN2-
-
-
-
3GainND
TRAPPC4-
-
-
-
3GainND
TREH-
-
-
-
3GainND
TRIM29-
-
-
-
3GainND
TRIM49-
-
-
-
3GainND
TRIM49C-
-
-
-
3GainND
TRIM49D1-
-
-
-
3GainND
TRIM49D2-
-
-
-
3GainND
TRIM52p.C227*
Nonsense
SNP
0.484
2-ND
TRIM64B-
-
-
-
3GainND
TRIM77-
-
-
-
3GainND
TRPC6-
-
-
-
3GainND
TSKU-
-
-
-
3GainND
TTC36-
-
-
-
3GainND
TUBAL3p.V216I
Missense
SNP
0.522
2-ND
TYR-
-
-
-
3GainND
UBASH3Bp.E436K
Missense
SNP
0.632
3GainND
UBE4A-
-
-
-
3GainND
UBTFL1-
-
-
-
3GainND
UCP2-
-
-
-
3GainND
UCP3-
-
-
-
3GainND
UNC13Bp.R1085C
Missense
SNP
0.471
2-ND
UNC5CLp.R244H
Missense
SNP
0.512
2-ND
UNC93B1-
-
-
-
3GainND
UPK2-
-
-
-
3GainND
UPK3BL1-
-
-
-
0DelND
UROC1p.G72R
Missense
SNP
0.533
2-ND
USP2-
-
-
-
3GainND
USP35-
-
-
-
3GainND
USPL1p.S248L
Missense
SNP
0.478
2-ND
UVRAG-
-
-
-
3GainND
UVSSA-
-
-
-
1LossND
VPS11-
-
-
-
3GainND
VPS13Cp.N23S
Missense
SNP
0.521
2-ND
VPS26B-
-
-
-
3GainND
VSIG10L2-
-
-
-
3GainND
VSIG2-
-
-
-
3GainND
VSTM5-
-
-
-
3GainND
VWA5A-
-
-
-
3GainND
WNT11-
-
-
-
3GainND
XRRA1-
-
-
-
3GainND
YAP1-
-
-
-
3GainND
ZBP1p.R109W
Missense
SNP
0.527
2-ND
ZBTB44-
-
-
-
3GainND
ZBTB7Bp.R397L
Missense
SNP
0.439
2-ND
ZC3H7Ap.L389V
Missense
SNP
0.547
2-ND
ZFP36L2p.C299Y
Missense
SNP
0.422
2-ND
ZFYVE28-
-
-
-
1LossND
ZNF141-
-
-
-
1LossND
ZNF169p.R549C
Missense
SNP
0.462
2-ND
ZNF202-
-
-
-
3GainND
ZNF595-
-
-
-
1LossND
ZNF718-
-
-
-
1LossND
ZNF721-
-
-
-
1LossND
ZNF732-
-
-
-
1LossND
ZPR1-
-
-
-
3GainND