PDMR-541946~237-B~D12-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABR-
-
-
-
1Loss-
AC003688.1-
-
-
-
1Loss-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC006059.2-
-
-
-
1Loss-
AC006254.1-
-
-
-
1Loss-
AC007846.2-
-
-
-
1Loss-
AC026954.2-
-
-
-
1Loss-
AC027796.3-
-
-
-
1Loss-
AC055811.2-
-
-
-
1Loss-
AC090004.1-
-
-
-
1Loss-
AC092042.3-
-
-
-
1Loss-
AC096887.1-
-
-
-
1Loss-
AC097634.4-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC098650.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC104304.1-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC104581.2-
-
-
-
1Loss-
AC109583.3-
-
-
-
1Loss-
AC120057.2-
-
-
-
1Loss-
AC129492.3-
-
-
-
1Loss-
AC135178.2-
-
-
-
1Loss-
ACAA1-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACKR2-
-
-
-
1Loss-
ACOX2-
-
-
-
1Loss-
ACSS3p.Y413H
Missense
SNP
0.429
2--
ACTR8-
-
-
-
1Loss-
ACVR2B-
-
-
-
1Loss-
ACY1-
-
-
-
1Loss-
ADAMTS9-
-
-
-
1Loss-
ADORA2B-
-
-
-
1Loss-
ADPRM-
-
-
-
1Loss-
AIPL1-
-
-
-
1Loss-
AKAP10-
-
-
-
1Loss-
AKNA-
-
-
-
1Loss-
ALAS1-
-
-
-
1Loss-
ALDH3A1-
-
-
-
1Loss-
ALDH3A2-
-
-
-
1Loss-
ALKBH5-
-
-
-
1Loss-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOXE3-
-
-
-
1Loss-
ALS2CL-
-
-
-
1Loss-
AMIGO3-
-
-
-
1Loss-
AMT-
-
-
-
1Loss-
ANKFY1-
-
-
-
1Loss-
ANKRD28-
-
-
-
1Loss-
ANO10-
-
-
-
1Loss-
APEH-
-
-
-
1Loss-
APPL1-
-
-
-
1Loss-
ARF4-
-
-
-
1Loss-
ARHGAP44-
-
-
-
1Loss-
ARHGEF15-
-
-
-
1Loss-
ARHGEF16-
-
-
-
0Del-
ARHGEF3-
-
-
-
1Loss-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL17A-
-
-
-
2-ARL17A--KANSL1
ARL6IP5-
-
-
-
1Loss-
ARPP21-
-
-
-
1Loss-
ARRB2-
-
-
-
1Loss-
ASB14-
-
-
-
1Loss-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASPA-
-
-
-
1Loss-
ATG7-
-
-
-
1Loss-
ATP1B2-
-
-
-
1Loss-
ATP2A3-
-
-
-
1Loss-
ATP6V1G1-
-
-
-
1Loss-
ATP8B3p.Y1154*
Nonsense
SNP
0.368
2--
ATPAF2-
-
-
-
1Loss-
ATRIP-
-
-
-
1Loss-
ATXN7-
-
-
-
1Loss-
AURKB-
-
-
-
1Loss-
AZI2-
-
-
-
1Loss-
B9D1-
-
-
-
1Loss-
BAP1-
-
-
-
1Loss-
BCL6B-
-
-
-
1Loss-
BHLHA9-
-
-
-
1Loss-
BOP1-
-
-
-
1Loss-
BORCS6-
-
-
-
1Loss-
BSN-
-
-
-
1Loss-
BTD-
-
-
-
1Loss-
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
1Loss-
C17orf49-
-
-
-
1Loss-
C17orf51-
-
-
-
1Loss-
C17orf97-
-
-
-
1Loss-
C1QBP-
-
-
-
1Loss-
C3orf14-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf20-
-
-
-
1Loss-
C3orf38-
-
-
-
1Loss-
C3orf49-
-
-
-
1Loss-
C3orf62-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C3orf84-
-
-
-
1Loss-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
CACNA1D-
-
-
-
1Loss-
CACNA2D2-
-
-
-
1Loss-
CACNA2D3-
-
-
-
1Loss-
CADM2-
-
-
-
1Loss-
CADPS-
-
-
-
1Loss-
CAMKK1-
-
-
-
1Loss-
CAMKV-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAMTA2-
-
-
-
1Loss-
CAND2-
-
-
-
1Loss-
CAPN7-
-
-
-
1Loss-
CCDC12-
-
-
-
1Loss-
CCDC13-
-
-
-
1Loss-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
1Loss-
CCDC174-
-
-
-
1Loss-
CCDC36-
-
-
-
1Loss-
CCDC42-
-
-
-
1Loss-
CCDC51-
-
-
-
1Loss-
CCDC66-
-
-
-
1Loss-
CCDC71-
-
-
-
1Loss-
CCK-
-
-
-
1Loss-
CCR1-
-
-
-
1Loss-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR8-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CD68-
-
-
-
1Loss-
CDC25A-
-
-
-
1Loss-
CDCP1-
-
-
-
1Loss-
CDHR4-
-
-
-
1Loss-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT15L2-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CELSR3-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CFAP52-
-
-
-
1Loss-
CGGBP1-
-
-
-
1Loss-
CHCHD4-
-
-
-
1Loss-
CHD3-
-
-
-
1Loss-
CHDH-
-
-
-
1Loss-
CHL1-
-
-
-
1Loss-
CHMP2B-
-
-
-
1Loss-
CHRNB1-
-
-
-
1Loss-
CHRNE-
-
-
-
1Loss-
CISH-
-
-
-
1Loss-
CLASP2-
-
-
-
1Loss-
CLDN7-
-
-
-
1Loss-
CLEC10A-
-
-
-
1Loss-
CLEC3B-
-
-
-
1Loss-
CLUH-
-
-
-
1Loss-
CMC1-
-
-
-
1Loss-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CNOT10-
-
-
-
1Loss-
CNTN3-
-
-
-
1Loss-
CNTNAP2-
-
-
-
4Gain-
CNTROB-
-
-
-
1Loss-
COL3A1p.M535T
Missense
SNP
0.463
2--
COL7A1-
-
-
-
1Loss-
COLQ-
-
-
-
1Loss-
COPS3-
-
-
-
1Loss-
COX10-
-
-
-
1Loss-
CRK-
-
-
-
1Loss-
CRTAP-
-
-
-
1Loss-
CSH1p.R196S
Missense
SNP
0.473
2--
CSPG5-
-
-
-
1Loss-
CSRNP1-
-
-
-
1Loss-
CTC1-
-
-
-
1Loss-
CTDNEP1-
-
-
-
1Loss-
CTDSPL-
-
-
-
1Loss-
CTNNB1-
-
-
-
1Loss-
CTNS-
-
-
-
1Loss-
CX3CR1-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXCR6-
-
-
-
1Loss-
CYB561D2-
-
-
-
1Loss-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYP21A2-
-
-
-
1Loss-
CYP8B1-
-
-
-
1Loss-
DAG1-
-
-
-
1Loss-
DALRD3-
-
-
-
1Loss-
DAZL-
-
-
-
1Loss-
DCAF1-
-
-
-
1Loss-
DCLK3-
-
-
-
1Loss-
DCP1A-
-
-
-
1Loss-
DENND6A-
-
-
-
1Loss-
DERL2-
-
-
-
1Loss-
DGKHp.G1207*
Nonsense
SNP
0.406
2--
DHRS7B-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHX30-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DLEC1-
-
-
-
1Loss-
DLG4-
-
-
-
1Loss-
DNAAF3p.G445D
Missense
SNP
0.475
2--
DNAH1-
-
-
-
1Loss-
DNAH12-
-
-
-
1Loss-
DNAH2-
-
-
-
1Loss-
DNAH9-
-
-
-
1Loss-
DNASE1L3-
-
-
-
1Loss-
DOC2B-
-
-
-
1Loss-
DOCK3-
-
-
-
1Loss-
DPH1-
-
-
-
1Loss-
DPH3-
-
-
-
1Loss-
DRC3-
-
-
-
1Loss-
DRG2-
-
-
-
1Loss-
DUSP7-
-
-
-
1Loss-
DVL2-
-
-
-
1Loss-
DYNC1LI1-
-
-
-
1Loss-
EAF1-
-
-
-
1Loss-
EBLN2-
-
-
-
1Loss-
EFHB-
-
-
-
1Loss-
EFNB3-
-
-
-
1Loss-
EIF1B-
-
-
-
1Loss-
EIF4A1-
-
-
-
1Loss-
EIF4E3-
-
-
-
1Loss-
EIF5A-
-
-
-
1Loss-
ELAC2-
-
-
-
1Loss-
ELP5-
-
-
-
1Loss-
ELP6-
-
-
-
1Loss-
EMC6-
-
-
-
1Loss-
ENO3-
-
-
-
1Loss-
ENPEPp.T578A
Missense
SNP
0.654
2--
ENTPD3-
-
-
-
1Loss-
EOGT-
-
-
-
1Loss-
EOMES-
-
-
-
1Loss-
EPHA3-
-
-
-
1Loss-
EPM2AIP1-
-
-
-
1Loss-
EPN2-
-
-
-
1Loss-
ERC2-
-
-
-
1Loss-
EVPLL-
-
-
-
1Loss-
EXOG-
-
-
-
1Loss-
EXOSC7-
-
-
-
1Loss-
FAM107A-
-
-
-
1Loss-
FAM198Ap.R14Q
Missense
SNP
1.000
1Loss-
FAM19A1-
-
-
-
1Loss-
FAM19A4-
-
-
-
1Loss-
FAM208A-
-
-
-
1Loss-
FAM240A-
-
-
-
1Loss-
FAM3D-
-
-
-
1Loss-
FAM57A-
-
-
-
1Loss-
FAM83G-
-
-
-
1Loss-
FBLN2-
-
-
-
1Loss-
FBXL2-
-
-
-
1Loss-
FBXO39-
-
-
-
1Loss-
FBXW10-
-
-
-
1Loss-
FBXW12-
-
-
-
1Loss-
FEZF2-
-
-
-
1Loss-
FGD5-
-
-
-
1Loss-
FGF11-
-
-
-
1Loss-
FHIT-
-
-
-
1Loss-
FLCN-
-
-
-
1Loss-
FLII-
-
-
-
1Loss-
FLNB-
-
-
-
1Loss-
FLRT2-
-
-
-
3Gain-
FOXL2p.H291N
Missense
SNP
0.381
2--
FOXP1-
-
-
-
1Loss-
FRG2C-
-
-
-
1Loss-
FRMD4B-
-
-
-
1Loss-
FXR2-
-
-
-
1Loss-
FYCO1-
-
-
-
1Loss-
GABARAP-
-
-
-
1Loss-
GADL1-
-
-
-
1Loss-
GALNT15-
-
-
-
1Loss-
GAS7-
-
-
-
1Loss-
GBE1-
-
-
-
1Loss-
GEMIN4-
-
-
-
1Loss-
GGT6-
-
-
-
1Loss-
GID4-
-
-
-
1Loss-
GLB1-
-
-
-
1Loss-
GLOD4-
-
-
-
1Loss-
GLP2R-
-
-
-
1Loss-
GLT8D1-
-
-
-
1Loss-
GLTPD2-
-
-
-
1Loss-
GLYCTK-
-
-
-
1Loss-
GMPPB-
-
-
-
1Loss-
GNAI2-
-
-
-
1Loss-
GNAT1-
-
-
-
1Loss-
GNL3-
-
-
-
1Loss-
GOLGA4-
-
-
-
1Loss-
GORASP1-
-
-
-
1Loss-
GP1BA-
-
-
-
1Loss-
GPD1L-
-
-
-
1Loss-
GPR27-
-
-
-
1Loss-
GPR62-
-
-
-
1Loss-
GPS2-
-
-
-
1Loss-
GPX1-
-
-
-
1Loss-
GRAP-
-
-
-
1Loss-
GRAPL-
-
-
-
1Loss-
GRIP2-
-
-
-
1Loss-
GRM2-
-
-
-
1Loss-
GSG1L2-
-
-
-
1Loss-
GUCY2D-
-
-
-
1Loss-
GXYLT2-
-
-
-
1Loss-
HACL1-
-
-
-
1Loss-
HASPIN-
-
-
-
1Loss-
HDAC11-
-
-
-
1Loss-
HEMK1-
-
-
-
1Loss-
HES7-
-
-
-
1Loss-
HESX1-
-
-
-
1Loss-
HHATL-
-
-
-
1Loss-
HIC1-
-
-
-
1Loss-
HIGD1A-
-
-
-
1Loss-
HRH1-
-
-
-
1Loss-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HTD2-
-
-
-
1Loss-
HTR1F-
-
-
-
1Loss-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
IFRD2-
-
-
-
1Loss-
IL17RB-
-
-
-
1Loss-
IL17RD-
-
-
-
1Loss-
IMPDH2-
-
-
-
1Loss-
INCA1-
-
-
-
1Loss-
INKA1-
-
-
-
1Loss-
INPP5K-
-
-
-
1Loss-
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQSEC1-
-
-
-
1Loss-
ITGA9-
-
-
-
1Loss-
ITGAE-
-
-
-
1Loss-
ITIH1-
-
-
-
1Loss-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
KANSL1-
-
-
-
2-ARL17A--KANSL1
KAT2B-
-
-
-
1Loss-
KBTBD8-
-
-
-
1Loss-
KCNAB3-
-
-
-
1Loss-
KCNH8-
-
-
-
1Loss-
KCNJ12-
-
-
-
1Loss-
KCNJ18-
-
-
-
1Loss-
KCTD11-
-
-
-
1Loss-
KCTD6-
-
-
-
1Loss-
KDM6B-
-
-
-
1Loss-
KIAA0753-
-
-
-
1Loss-
KIAA1143-
-
-
-
1Loss-
KIF15-
-
-
-
1Loss-
KIF1C-
-
-
-
1Loss-
KIF9-
-
-
-
1Loss-
KLHDC8B-
-
-
-
1Loss-
KLHL18-
-
-
-
1Loss-
KLHL40-
-
-
-
1Loss-
KRBA2-
-
-
-
1Loss-
KRBOX1-
-
-
-
1Loss-
LAMB2-
-
-
-
1Loss-
LAMC3p.G1269S
Missense
SNP
0.615
2--
LARS2-
-
-
-
1Loss-
LGALS9B-
-
-
-
1Loss-
LGALS9C-
-
-
-
1Loss-
LIMD1-
-
-
-
1Loss-
LLGL1-
-
-
-
1Loss-
LMOD3-
-
-
-
1Loss-
LRIG1-
-
-
-
1Loss-
LRRC2-
-
-
-
1Loss-
LRRC3B-
-
-
-
1Loss-
LRRC75A-
-
-
-
1Loss-
LRRFIP2-
-
-
-
1Loss-
LRTM1-
-
-
-
1Loss-
LSM3-
-
-
-
1Loss-
LSMEM2-
-
-
-
1Loss-
LTF-
-
-
-
1Loss-
LYZL4-
-
-
-
1Loss-
LZTFL1-
-
-
-
1Loss-
MAGI1-
-
-
-
1Loss-
MANF-
-
-
-
1Loss-
MAP2K3-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP4-
-
-
-
1Loss-
MAPK7-
-
-
-
1Loss-
MAPKAPK3-
-
-
-
1Loss-
MED11-
-
-
-
1Loss-
MED31-
-
-
-
1Loss-
MED9-
-
-
-
1Loss-
MEGF6-
-
-
-
0Del-
METTL16-
-
-
-
1Loss-
METTL6-
-
-
-
1Loss-
MFAP4-
-
-
-
1Loss-
MFSD6L-
-
-
-
1Loss-
MIEF2-
-
-
-
1Loss-
MINK1-
-
-
-
1Loss-
MIS12-
-
-
-
1Loss-
MITF-
-
-
-
1Loss-
MKRN2-
-
-
-
1Loss-
MKRN2OS-
-
-
-
1Loss-
MLH1-
-
-
-
1Loss-
MNT-
-
-
-
1Loss-
MOBP-
-
-
-
1Loss-
MON1A-
-
-
-
1Loss-
MPDU1-
-
-
-
1Loss-
MPRIP-
-
-
-
1Loss-
MRM3-
-
-
-
1Loss-
MRPS25-
-
-
-
1Loss-
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MUSTN1-
-
-
-
1Loss-
MYBBP1A-
-
-
-
1Loss-
MYD88-
-
-
-
1Loss-
MYH1-
-
-
-
1Loss-
MYH10-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH8-
-
-
-
1Loss-
MYL3-
-
-
-
1Loss-
MYO15A-
-
-
-
1Loss-
MYO1C-
-
-
-
1Loss-
MYOCD-
-
-
-
1Loss-
MYRIP-
-
-
-
1Loss-
NAA38-
-
-
-
1Loss-
NAA80-
-
-
-
1Loss-
NATD1-
-
-
-
1Loss-
NBEAL2-
-
-
-
1Loss-
NCBP3-
-
-
-
1Loss-
NCKIPSD-
-
-
-
1Loss-
NCOR1-
-
-
-
1Loss-
NDEL1-
-
-
-
1Loss-
NDUFAF3-
-
-
-
1Loss-
NEK10-
-
-
-
1Loss-
NEK4-
-
-
-
1Loss-
NEURL4-
-
-
-
1Loss-
NGLY1-
-
-
-
1Loss-
NICN1-
-
-
-
1Loss-
NISCH-
-
-
-
1Loss-
NKIRAS1-
-
-
-
1Loss-
NKTR-
-
-
-
1Loss-
NLGN2-
-
-
-
1Loss-
NLRP1-
-
-
-
1Loss-
NME6-
-
-
-
1Loss-
NPRL2-
-
-
-
1Loss-
NR1D2-
-
-
-
1Loss-
NR2C2-
-
-
-
1Loss-
NT5DC2-
-
-
-
1Loss-
NT5M-
-
-
-
1Loss-
NTN1-
-
-
-
1Loss-
NUP210-
-
-
-
1Loss-
NUP88-
-
-
-
1Loss-
NXN-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
OR10Q1p.V199M
Missense
SNP
0.531
2--
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1G1-
-
-
-
1Loss-
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR4K1-
-
-
-
5Amp-
OR4K2-
-
-
-
5Amp-
OR4K5-
-
-
-
5Amp-
OR4M1-
-
-
-
5Amp-
OR4N2-
-
-
-
5Amp-
OR4Q3-
-
-
-
5Amp-
ORM1-
-
-
-
1Loss-
ORM2-
-
-
-
1Loss-
OSBPL10-
-
-
-
1Loss-
OVCA2-
-
-
-
1Loss-
OXNAD1-
-
-
-
1Loss-
OXSM-
-
-
-
1Loss-
OXSR1-
-
-
-
1Loss-
P2RX1-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P4HTM-
-
-
-
1Loss-
PAFAH1B1-
-
-
-
1Loss-
PARP3-
-
-
-
1Loss-
PBRM1-
-
-
-
1Loss-
PCBP4-
-
-
-
1Loss-
PCDH7-
-
-
-
3Gain-
PDCD6IP-
-
-
-
1Loss-
PDE12-
-
-
-
1Loss-
PDHB-
-
-
-
1Loss-
PDZRN3-
-
-
-
1Loss-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PER1-
-
-
-
1Loss-
PFAS-
-
-
-
1Loss-
PFKFB4-
-
-
-
1Loss-
PFN1-
-
-
-
1Loss-
PHF23-
-
-
-
1Loss-
PHF7-
-
-
-
1Loss-
PIGL-
-
-
-
1Loss-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PIMREG-
-
-
-
1Loss-
PIRT-
-
-
-
1Loss-
PITPNA-
-
-
-
1Loss-
PITPNM3-
-
-
-
1Loss-
PLCD1-
-
-
-
1Loss-
PLCL2-
-
-
-
1Loss-
PLD2-
-
-
-
1Loss-
PLD6-
-
-
-
1Loss-
PLSCR3-
-
-
-
1Loss-
PLXNB1-
-
-
-
1Loss-
PMP22-
-
-
-
1Loss-
POC1A-
-
-
-
1Loss-
POLR2A-
-
-
-
1Loss-
POMGNT2-
-
-
-
1Loss-
POU1F1-
-
-
-
1Loss-
PP2D1-
-
-
-
1Loss-
PPARG-
-
-
-
1Loss-
PPM1M-
-
-
-
1Loss-
PPP2R5Bp.Q56H
Missense
SNP
0.604
2--
PPP4R2-
-
-
-
1Loss-
PRICKLE2-
-
-
-
1Loss-
PRKAR2A-
-
-
-
1Loss-
PRKCD-
-
-
-
1Loss-
PROK2-
-
-
-
1Loss-
PRPF8-
-
-
-
1Loss-
PRPSAP2-
-
-
-
1Loss-
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS50-
-
-
-
1Loss-
PRSS55p.E262K
Missense
SNP
0.448
2--
PSMB6-
-
-
-
1Loss-
PSMD6-
-
-
-
1Loss-
PTH1R-
-
-
-
1Loss-
PTPN23-
-
-
-
1Loss-
PTPRG-
-
-
-
1Loss-
PXK-
-
-
-
1Loss-
QARS-
-
-
-
1Loss-
QRICH1-
-
-
-
1Loss-
RAB5A-
-
-
-
1Loss-
RABEP1-
-
-
-
1Loss-
RAD54L2-
-
-
-
1Loss-
RAF1-
-
-
-
1Loss-
RAI1-
-
-
-
1Loss-
RANGRF-
-
-
-
1Loss-
RAP1GAP2-
-
-
-
1Loss-
RARB-
-
-
-
1Loss-
RASD1-
-
-
-
1Loss-
RASSF1-
-
-
-
1Loss-
RBL2p.R192*
Nonsense
SNP
0.538
2--
RBM15B-
-
-
-
1Loss-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBMS3-
-
-
-
1Loss-
RBSN-
-
-
-
1Loss-
RCVRN-
-
-
-
1Loss-
RFLNB-
-
-
-
1Loss-
RFT1-
-
-
-
1Loss-
RFTN1-
-
-
-
1Loss-
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RHOA-
-
-
-
1Loss-
RILP-
-
-
-
1Loss-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RNF112-
-
-
-
1Loss-
RNF123-
-
-
-
1Loss-
RNF167-
-
-
-
1Loss-
RNF222-
-
-
-
1Loss-
RNF227-
-
-
-
1Loss-
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
RPA1-
-
-
-
1Loss-
RPAIN-
-
-
-
1Loss-
RPH3AL-
-
-
-
1Loss-
RPL14-
-
-
-
1Loss-
RPL15-
-
-
-
1Loss-
RPL26-
-
-
-
1Loss-
RPL29-
-
-
-
1Loss-
RPL32-
-
-
-
1Loss-
RPP14-
-
-
-
1Loss-
RPSA-
-
-
-
1Loss-
RRP9-
-
-
-
1Loss-
RTN4RL1-
-
-
-
1Loss-
RTP3-
-
-
-
1Loss-
RYBP-
-
-
-
1Loss-
SACM1L-
-
-
-
1Loss-
SALL1p.C110R
Missense
SNP
0.590
2--
SAT2-
-
-
-
1Loss-
SATB1-
-
-
-
1Loss-
SCAP-
-
-
-
1Loss-
SCARF1-
-
-
-
1Loss-
SCGB1C2-
-
-
-
1Loss-
SCIMP-
-
-
-
1Loss-
SCN10A-
-
-
-
1Loss-
SCN11A-
-
-
-
1Loss-
SCN5A-
-
-
-
1Loss-
SCO1-
-
-
-
1Loss-
SCX-
-
-
-
1Loss-
SEC22C-
-
-
-
1Loss-
SELENOK-
-
-
-
1Loss-
SEMA3B-
-
-
-
1Loss-
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SETD2-
-
-
-
1Loss-
SFMBT1-
-
-
-
1Loss-
SGO1-
-
-
-
1Loss-
SGSM2-
-
-
-
1Loss-
SH3BP5-
-
-
-
1Loss-
SHBG-
-
-
-
1Loss-
SHISA5-
-
-
-
1Loss-
SHISA6-
-
-
-
1Loss-
SHMT1-
-
-
-
1Loss-
SHPK-
-
-
-
1Loss-
SHQ1-
-
-
-
1Loss-
SLC13A5-
-
-
-
1Loss-
SLC16A11-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC22A13-
-
-
-
1Loss-
SLC22A14-
-
-
-
1Loss-
SLC25A11-
-
-
-
1Loss-
SLC25A20-
-
-
-
1Loss-
SLC25A26-
-
-
-
1Loss-
SLC25A35-
-
-
-
1Loss-
SLC25A38-
-
-
-
1Loss-
SLC26A6-
-
-
-
1Loss-
SLC2A4-
-
-
-
1Loss-
SLC35G6-
-
-
-
1Loss-
SLC38A3-
-
-
-
1Loss-
SLC43A2-
-
-
-
1Loss-
SLC47A1-
-
-
-
1Loss-
SLC47A2-
-
-
-
1Loss-
SLC4A7-
-
-
-
1Loss-
SLC52A1-
-
-
-
1Loss-
SLC5A10-
-
-
-
1Loss-
SLC6A1-
-
-
-
1Loss-
SLC6A11-
-
-
-
1Loss-
SLC6A20-
-
-
-
1Loss-
SLC6A6-
-
-
-
1Loss-
SLMAP-
-
-
-
1Loss-
SMARCC1-
-
-
-
1Loss-
SMCR8-
-
-
-
1Loss-
SMG6-
-
-
-
1Loss-
SMIM4-
-
-
-
1Loss-
SMTNL2-
-
-
-
1Loss-
SMYD4-
-
-
-
1Loss-
SNRK-
-
-
-
1Loss-
SNTN-
-
-
-
1Loss-
SOX15-
-
-
-
1Loss-
SPAG7-
-
-
-
1Loss-
SPATA12-
-
-
-
1Loss-
SPATA22-
-
-
-
1Loss-
SPCS1-
-
-
-
1Loss-
SPDYE4-
-
-
-
1Loss-
SPECC1-
-
-
-
1Loss-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPINK8-
-
-
-
1Loss-
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SREBF1-
-
-
-
1Loss-
SRR-
-
-
-
1Loss-
SS18L2-
-
-
-
1Loss-
STAB1-
-
-
-
1Loss-
STAC-
-
-
-
1Loss-
STIMATE-
-
-
-
1Loss-
STT3B-
-
-
-
1Loss-
STX8-
-
-
-
1Loss-
SUCLG2-
-
-
-
1Loss-
SUSD5-
-
-
-
1Loss-
SYN2-
-
-
-
1Loss-
SYNPR-
-
-
-
1Loss-
TAMM41-
-
-
-
1Loss-
TAX1BP3-
-
-
-
1Loss-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBC1D5-
-
-
-
1Loss-
TCAIM-
-
-
-
1Loss-
TCTA-
-
-
-
1Loss-
TDGF1-
-
-
-
1Loss-
TEKT1-
-
-
-
1Loss-
TEKT3-
-
-
-
1Loss-
TEPPp.E199K
Missense
SNP
0.550
2--
TEX264-
-
-
-
1Loss-
TEX48-
-
-
-
1Loss-
TGFBR2-
-
-
-
1Loss-
TGM4-
-
-
-
1Loss-
THOC7-
-
-
-
1Loss-
THRB-
-
-
-
1Loss-
TIMM22-
-
-
-
1Loss-
TIMP4-
-
-
-
1Loss-
TKT-
-
-
-
1Loss-
TLCD2-
-
-
-
1Loss-
TLR9-
-
-
-
1Loss-
TM4SF5-
-
-
-
1Loss-
TMA7-
-
-
-
1Loss-
TMEM102-
-
-
-
1Loss-
TMEM107-
-
-
-
1Loss-
TMEM11-
-
-
-
1Loss-
TMEM110-MUSTN1-
-
-
-
1Loss-
TMEM115-
-
-
-
1Loss-
TMEM158-
-
-
-
1Loss-
TMEM220-
-
-
-
1Loss-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM268-
-
-
-
1Loss-
TMEM40-
-
-
-
1Loss-
TMEM42-
-
-
-
1Loss-
TMEM43-
-
-
-
1Loss-
TMEM88-
-
-
-
1Loss-
TMEM89-
-
-
-
1Loss-
TMEM95-
-
-
-
1Loss-
TMF1-
-
-
-
1Loss-
TMIE-
-
-
-
1Loss-
TMPPE-
-
-
-
1Loss-
TNC-
-
-
-
1Loss-
TNFRSF13B-
-
-
-
1Loss-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF15-
-
-
-
1Loss-
TNFSF8-
-
-
-
1Loss-
TNK1-
-
-
-
1Loss-
TNNC1-
-
-
-
1Loss-
TNXB-
-
-
-
1Loss-
TOM1L2-
-
-
-
1Loss-
TOP2B-
-
-
-
1Loss-
TOP3A-
-
-
-
1Loss-
TOPAZ1-
-
-
-
1Loss-
TP53-
-
-
-
1Loss-
TP73-
-
-
-
0Del-
TPRG1L-
-
-
-
0Del-
TRAIP-
-
-
-
1Loss-
TRAK1-
-
-
-
1Loss-
TRANK1-
-
-
-
1Loss-
TRAPPC1-
-
-
-
1Loss-
TRARG1-
-
-
-
1Loss-
TREX1-
-
-
-
1Loss-
TRIM16-
-
-
-
1Loss-
TRIM16L-
-
-
-
1Loss-
TRIM71-
-
-
-
1Loss-
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TSEN2-
-
-
-
1Loss-
TSR1-
-
-
-
1Loss-
TTC19-
-
-
-
1Loss-
TTC21A-
-
-
-
1Loss-
TUSC2-
-
-
-
1Loss-
TVP23B-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWF2-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
UBA3-
-
-
-
1Loss-
UBA7-
-
-
-
1Loss-
UBB-
-
-
-
1Loss-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2G1-
-
-
-
1Loss-
UBE2QL1p.W153L
Missense
SNP
0.543
2--
UBP1-
-
-
-
1Loss-
UCN2-
-
-
-
1Loss-
ULK2-
-
-
-
1Loss-
ULK4-
-
-
-
1Loss-
UNC5Bp.Y581H
Missense
SNP
0.474
2--
UQCRC1-
-
-
-
1Loss-
USP19-
-
-
-
1Loss-
USP22-
-
-
-
1Loss-
USP4-
-
-
-
1Loss-
USP43-
-
-
-
1Loss-
USP6-
-
-
-
1Loss-
VAMP2-
-
-
-
1Loss-
VGLL3-
-
-
-
1Loss-
VGLL4-
-
-
-
1Loss-
VILL-
-
-
-
1Loss-
VIPR1-
-
-
-
1Loss-
VMO1-
-
-
-
1Loss-
VPS53-
-
-
-
1Loss-
WDR48-
-
-
-
1Loss-
WDR6-
-
-
-
1Loss-
WDR81-
-
-
-
1Loss-
WDR82-
-
-
-
1Loss-
WHRN-
-
-
-
1Loss-
WNT5A-
-
-
-
1Loss-
WNT7A-
-
-
-
1Loss-
WRAP53-
-
-
-
1Loss-
WRAP73-
-
-
-
0Del-
WSCD1-
-
-
-
1Loss-
XAF1-
-
-
-
1Loss-
XCR1-
-
-
-
1Loss-
XIRP1-
-
-
-
1Loss-
XPC-
-
-
-
1Loss-
XYLB-
-
-
-
1Loss-
YBX2-
-
-
-
1Loss-
YWHAE-
-
-
-
1Loss-
Z84492.1-
-
-
-
1Loss-
ZBTB4-
-
-
-
1Loss-
ZBTB47-
-
-
-
1Loss-
ZCWPW2-
-
-
-
1Loss-
ZDHHC24p.R80G
Missense
SNP
0.455
2--
ZDHHC3-
-
-
-
1Loss-
ZFP3-
-
-
-
1Loss-
ZKSCAN7-
-
-
-
1Loss-
ZMYND10-
-
-
-
1Loss-
ZMYND15-
-
-
-
1Loss-
ZNF18-
-
-
-
1Loss-
ZNF197-
-
-
-
1Loss-
ZNF232-
-
-
-
1Loss-
ZNF286A-
-
-
-
1Loss-
ZNF286B-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF35-
-
-
-
1Loss-
ZNF385D-
-
-
-
1Loss-
ZNF445-
-
-
-
1Loss-
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF589-
-
-
-
1Loss-
ZNF594-
-
-
-
1Loss-
ZNF619-
-
-
-
1Loss-
ZNF620-
-
-
-
1Loss-
ZNF621-
-
-
-
1Loss-
ZNF624-
-
-
-
1Loss-
ZNF654-
-
-
-
1Loss-
ZNF660-
-
-
-
1Loss-
ZNF662-
-
-
-
1Loss-
ZNF717-
-
-
-
1Loss-
ZNF852-
-
-
-
1Loss-
ZNF860-
-
-
-
1Loss-
ZSWIM7-
-
-
-
1Loss-
ZZEF1-
-
-
-
1Loss-