PDMR-328469~098-R~E9CF81N88-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
AASSp.P239H
Missense
SNP
0.285
3Gain-
ABCA13-
-
-
-
3Gain-
ABCB1-
-
-
-
3Gain-
ABCB4-
-
-
-
3Gain-
ABCB5-
-
-
-
3Gain-
ABCB8-
-
-
-
3Gain-
ABCF2-
-
-
-
3Gain-
ABHD11-
-
-
-
3Gain-
AC000120.2-
-
-
-
3Gain-
AC000120.3-
-
-
-
3Gain-
AC004080.3-
-
-
-
3Gain-
AC004593.3-
-
-
-
3Gain-
AC004691.2-
-
-
-
3Gain-
AC004922.1-
-
-
-
3Gain-
AC005020.2-
-
-
-
3Gain-
AC005154.5-
-
-
-
3Gain-
AC006978.2-
-
-
-
3Gain-
AC010132.3-
-
-
-
3Gain-
AC011005.1-
-
-
-
3Gain-
AC019117.2-
-
-
-
3Gain-
AC021097.2-
-
-
-
3Gain-
AC021097.3-
-
-
-
3Gain-
AC027644.4-
-
-
-
3Gain-
AC068533.4-
-
-
-
3Gain-
AC073111.3-
-
-
-
3Gain-
AC073111.5-
-
-
-
3Gain-
AC092647.5-
-
-
-
3Gain-
AC093668.1-
-
-
-
3Gain-
AC093668.2-
-
-
-
3Gain-
AC093668.3-
-
-
-
3Gain-
AC105052.1-
-
-
-
3Gain-
AC105052.3-
-
-
-
3Gain-
AC115220.1-
-
-
-
3Gain-
AC187653.1-
-
-
-
3Gain-
ACHE-
-
-
-
3Gain-
ACTB-
-
-
-
3Gain-
ACTL6B-
-
-
-
3Gain-
ACTR3B-
-
-
-
3Gain-
ACTR3C-
-
-
-
3Gain-
ADAM22-
-
-
-
3Gain-
ADAMTS12p.D1393G
Missense
SNP
0.545
2--
ADAP1-
-
-
-
3Gain-
ADCK2-
-
-
-
3Gain-
ADCY1-
-
-
-
3Gain-
ADCYAP1R1-
-
-
-
3Gain-
AEBP1-
-
-
-
3Gain-
AGAP3-
-
-
-
3Gain-
AGBL3-
-
-
-
3Gain-
AGFG2-
-
-
-
3Gain-
AGK-
-
-
-
3Gain-
AGMO-
-
-
-
3Gain-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AHCYL2-
-
-
-
3Gain-
AHR-
-
-
-
3Gain-
AICDAp.R190*
Nonsense
SNP
0.502
2--
AIMP2-
-
-
-
3Gain-
AKAP9-
-
-
-
3Gain-
AKR1B1-
-
-
-
3Gain-
AKR1B10-
-
-
-
3Gain-
AKR1B15-
-
-
-
3Gain-
AKR1D1-
-
-
-
3Gain-
ALKBH4-
-
-
-
3Gain-
AMPH-
-
-
-
3Gain-
AMZ1-
-
-
-
3Gain-
ANKIB1-
-
-
-
3Gain-
ANKMY2-
-
-
-
3Gain-
ANKRD61-
-
-
-
3Gain-
ANKRD7-
-
-
-
3Gain-
ANLN-
-
-
-
3Gain-
AOAH-
-
-
-
3Gain-
AOC1-
-
-
-
3Gain-
AP1S1-
-
-
-
3Gain-
AP4M1-
-
-
-
3Gain-
AP5Z1-
-
-
-
3Gain-
AQP1-
-
-
-
3Gain-
ARF5-
-
-
-
3Gain-
ARHGEF5-
-
-
-
3Gain-
ARL17A-
-
-
-
1Loss-
ARL17B-
-
-
-
1Loss-
ARL4A-
-
-
-
3Gain-
ARMC10-
-
-
-
3Gain-
ARNTL2p.A574V
Missense
SNP
0.497
2--
ARPC1A-
-
-
-
3Gain-
ARPC1B-
-
-
-
3Gain-
ASB10-
-
-
-
3Gain-
ASB15-
-
-
-
3Gain-
ASB4-
-
-
-
3Gain-
ASIC3-
-
-
-
3Gain-
ASL-
-
-
-
3Gain-
ASNS-
-
-
-
3Gain-
ASZ1-
-
-
-
3Gain-
ATG9B-
-
-
-
3Gain-
ATP5MF-
-
-
-
3Gain-
ATP5MF-PTCD1-
-
-
-
3Gain-
ATP6V0A4-
-
-
-
3Gain-
ATP6V0E2-
-
-
-
3Gain-
ATP6V1F-
-
-
-
3Gain-
ATP6V1FNB-
-
-
-
3Gain-
ATXN7L1-
-
-
-
3Gain-
AUTS2-
-
-
-
3Gain-
AVL9-
-
-
-
3Gain-
AZGP1-
-
-
-
3Gain-
BAIAP2L1-
-
-
-
3Gain-
BAZ1B-
-
-
-
3Gain-
BBS9-
-
-
-
3Gain-
BCAP29-
-
-
-
3Gain-
BCL7B-
-
-
-
3Gain-
BET1-
-
-
-
3Gain-
BHLHA15-
-
-
-
3Gain-
BLVRA-
-
-
-
3Gain-
BMPER-
-
-
-
3Gain-
BMT2-
-
-
-
3Gain-
BPGM-
-
-
-
3Gain-
BRAFp.D594Y
Missense
SNP
0.361
3Gain-
BRAT1-
-
-
-
3Gain-
BRI3-
-
-
-
3Gain-
BRINP3-
-
-
-
3Gain-
BUD23-
-
-
-
3Gain-
BUD31-
-
-
-
3Gain-
BZW2-
-
-
-
3Gain-
C1GALT1-
-
-
-
3Gain-
C7orf25-
-
-
-
3Gain-
C7orf26-
-
-
-
3Gain-
C7orf31-
-
-
-
3Gain-
C7orf33-
-
-
-
3Gain-
C7orf43-
-
-
-
3Gain-
C7orf50-
-
-
-
3Gain-
C7orf55-LUC7L2-
-
-
-
3Gain-
C7orf57-
-
-
-
3Gain-
C7orf61-
-
-
-
3Gain-
C7orf77-
-
-
-
3Gain-
CACNA2D1-
-
-
-
3Gain-
CADPS2-
-
-
-
3Gain-
CALCR-
-
-
-
3Gain-
CALD1-
-
-
-
3Gain-
CALN1p.R125C
Missense
SNP
0.313
3Gain-
CALU-
-
-
-
3Gain-
CAMK2B-
-
-
-
3Gain-
CAMSAP3p.S580L
Missense
SNP
0.510
2--
CAPN9p.R360H
Missense
SNP
0.446
2--
CAPZA2-
-
-
-
3Gain-
CARD11-
-
-
-
3Gain-
CASD1-
-
-
-
3Gain-
CASP2-
-
-
-
3Gain-
CASTOR2-
-
-
-
3Gain-
CASTOR3-
-
-
-
3Gain-
CAV1-
-
-
-
3Gain-
CAV2-
-
-
-
3Gain-
CBLL1-
-
-
-
3Gain-
CBX3-
-
-
-
3Gain-
CCDC126-
-
-
-
3Gain-
CCDC136-
-
-
-
3Gain-
CCDC146-
-
-
-
3Gain-
CCDC71L-
-
-
-
3Gain-
CCINp.R43L
Missense
SNP
0.508
2--
CCL24-
-
-
-
3Gain-
CCL26-
-
-
-
3Gain-
CCM2p.R167W
Missense
SNP
0.352
3Gain-
CCT6A-
-
-
-
3Gain-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD36-
-
-
-
3Gain-
CDC14C-
-
-
-
3Gain-
CDCA7L-
-
-
-
3Gain-
CDHR3-
-
-
-
3Gain-
CDK13-
-
-
-
3Gain-
CDK14-
-
-
-
3Gain-
CDK5-
-
-
-
3Gain-
CDK6-
-
-
-
3Gain-
CEP41-
-
-
-
3Gain-
CFAP69-
-
-
-
3Gain-
CFTR-
-
-
-
3Gain-
CHCHD2-
-
-
-
3Gain-
CHCHD3-
-
-
-
3Gain-
CHN2-
-
-
-
3Gain-
CHPF2-
-
-
-
3Gain-
CHRM2-
-
-
-
3Gain-
CHST12-
-
-
-
3Gain-
CLCN1-
-
-
-
3Gain-
CLDN12-
-
-
-
3Gain-
CLDN15-
-
-
-
3Gain-
CLDN3-
-
-
-
3Gain-
CLDN4-
-
-
-
3Gain-
CLEC2L-
-
-
-
3Gain-
CLEC5A-
-
-
-
3Gain-
CLIP2-
-
-
-
3Gain-
CNOT4-
-
-
-
3Gain-
CNPY1-
-
-
-
3Gain-
CNPY4-
-
-
-
3Gain-
CNTNAP2-
-
-
-
6Amp-
COA1-
-
-
-
3Gain-
COBL-
-
-
-
3Gain-
COG5-
-
-
-
3Gain-
COL1A2-
-
-
-
3Gain-
COL26A1-
-
-
-
3Gain-
COL28A1-
-
-
-
3Gain-
COPG2-
-
-
-
3Gain-
COPS6-
-
-
-
3Gain-
COX19-
-
-
-
3Gain-
CPA1-
-
-
-
3Gain-
CPA2-
-
-
-
3Gain-
CPA4-
-
-
-
3Gain-
CPA5-
-
-
-
3Gain-
CPED1-
-
-
-
3Gain-
CPSF4-
-
-
-
3Gain-
CPVL-
-
-
-
3Gain-
CRCP-
-
-
-
3Gain-
CREB3L2-
-
-
-
3Gain-
CREB5-
-
-
-
3Gain-
CRHR2-
-
-
-
3Gain-
CROT-
-
-
-
3Gain-
CRYGN-
-
-
-
3Gain-
CTAGE4-
-
-
-
3Gain-
CTAGE8-
-
-
-
3Gain-
CTTNBP2-
-
-
-
3Gain-
CUL1-
-
-
-
3Gain-
CUX1-
-
-
-
3Gain-
CYCS-
-
-
-
3Gain-
CYP2W1-
-
-
-
3Gain-
CYP3A4-
-
-
-
3Gain-
CYP3A43-
-
-
-
3Gain-
CYP3A5-
-
-
-
3Gain-
CYP3A7-
-
-
-
3Gain-
CYP3A7-CYP3A51P-
-
-
-
3Gain-
CYP51A1-
-
-
-
3Gain-
CYREN-
-
-
-
3Gain-
CYTH3-
-
-
-
3Gain-
DAGLB-
-
-
-
3Gain-
DBF4-
-
-
-
3Gain-
DBNL-
-
-
-
3Gain-
DDC-
-
-
-
3Gain-
DDOSTp.P229S
Missense
SNP
0.436
2--
DDX56-
-
-
-
3Gain-
DENND2A-
-
-
-
3Gain-
DGKB-
-
-
-
3Gain-
DGKI-
-
-
-
3Gain-
DLD-
-
-
-
3Gain-
DLX5-
-
-
-
3Gain-
DLX6-
-
-
-
3Gain-
DMTF1-
-
-
-
3Gain-
DNAAF5-
-
-
-
3Gain-
DNAH11-
-
-
-
3Gain-
DNAJB6-
-
-
-
3Gain-
DNAJB9-
-
-
-
3Gain-
DNAJC2-
-
-
-
3Gain-
DNAJC30-
-
-
-
3Gain-
DOCK4-
-
-
-
3Gain-
DOK6p.R317W
Missense
SNP
0.438
2--
DPP6-
-
-
-
3Gain-
DPY19L1-
-
-
-
3Gain-
DTX2-
-
-
-
3Gain-
DUS4L-
-
-
-
3Gain-
DYNC1I1-
-
-
-
3Gain-
EEPD1-
-
-
-
3Gain-
EFCAB10-
-
-
-
3Gain-
EGFR-
-
-
-
3Gain-
EHD2p.A179T
Missense
SNP
0.488
2--
EIF2AK1-
-
-
-
3Gain-
EIF3B-
-
-
-
3Gain-
EIF4H-
-
-
-
3Gain-
ELFN1-
-
-
-
3Gain-
ELMO1-
-
-
-
3Gain-
ELN-
-
-
-
3Gain-
EN2-
-
-
-
3Gain-
EPDR1-
-
-
-
3Gain-
EPHA1-
-
-
-
3Gain-
EPHA6p.I495T
Missense
SNP
0.443
2--
EPHB4-
-
-
-
3Gain-
EPHB6-
-
-
-
3Gain-
EPO-
-
-
-
3Gain-
ERV3-1-
-
-
-
3Gain-
ESYT2-
-
-
-
3Gain-
ETFDHp.E494Q
Missense
SNP
0.479
2--
ETV1-
-
-
-
3Gain-
EVX1-
-
-
-
3Gain-
EXOC4-
-
-
-
3Gain-
EZH2-
-
-
-
3Gain-
F2p.V606M
Missense
SNP
0.505
2--
FAM126A-
-
-
-
3Gain-
FAM131B-
-
-
-
3Gain-
FAM133B-
-
-
-
3Gain-
FAM180A-
-
-
-
3Gain-
FAM185A-
-
-
-
3Gain-
FAM200A-
-
-
-
3Gain-
FAM20C-
-
-
-
3Gain-
FAM220A-
-
-
-
3Gain-
FAM221A-
-
-
-
3Gain-
FAM3C-
-
-
-
3Gain-
FAM71F1-
-
-
-
3Gain-
FAM71F2-
-
-
-
3Gain-
FASTK-
-
-
-
3Gain-
FBXL13-
-
-
-
3Gain-
FBXL18-
-
-
-
3Gain-
FBXO24-
-
-
-
3Gain-
FCGR1A-
-
-
-
1Loss-
FERD3L-
-
-
-
3Gain-
FEZF1-
-
-
-
3Gain-
FGD6p.L1308V
Missense
SNP
0.438
2--
FGL2-
-
-
-
3Gain-
FIGNL1-
-
-
-
3Gain-
FIS1-
-
-
-
3Gain-
FKBP14-
-
-
-
3Gain-
FKBP6-
-
-
-
3Gain-
FKBP9-
-
-
-
3Gain-
FLNC-
-
-
-
3Gain-
FLRT2-
-
-
-
3Gain-
FMC1-
-
-
-
3Gain-
FOXK1-
-
-
-
3Gain-
FOXP2-
-
-
-
3Gain-
FSCN1-
-
-
-
3Gain-
FSCN3-
-
-
-
3Gain-
FSIP2p.C3900R
Missense
SNP
0.986
2--
FZD1-
-
-
-
3Gain-
FZD9-
-
-
-
3Gain-
GAL3ST4-
-
-
-
3Gain-
GALNT11-
-
-
-
3Gain-
GALNT17-
-
-
-
3Gain-
GALNTL5-
-
-
-
3Gain-
GALR2p.R274C
Missense
SNP
0.574
2--
GARS-
-
-
-
3Gain-
GARTp.K906E
Missense
SNP
0.423
2--
GATAD1-
-
-
-
3Gain-
GBX1-
-
-
-
3Gain-
GCC1-
-
-
-
3Gain-
GCK-
-
-
-
3Gain-
GET4-
-
-
-
3Gain-
GGCT-
-
-
-
3Gain-
GHRHR-
-
-
-
3Gain-
GIGYF1-
-
-
-
3Gain-
GIMAP1-
-
-
-
3Gain-
GIMAP1-GIMAP5-
-
-
-
3Gain-
GIMAP2-
-
-
-
3Gain-
GIMAP4-
-
-
-
3Gain-
GIMAP5-
-
-
-
3Gain-
GIMAP6-
-
-
-
3Gain-
GIMAP7-
-
-
-
3Gain-
GIMAP8-
-
-
-
3Gain-
GJC3-
-
-
-
3Gain-
GLCCI1-
-
-
-
3Gain-
GLI1p.A835T
Missense
SNP
0.472
2--
GLI3-
-
-
-
3Gain-
GNA12-
-
-
-
3Gain-
GNAI1-
-
-
-
3Gain-
GNAT3-
-
-
-
3Gain-
GNB2-
-
-
-
3Gain-
GNG11-
-
-
-
3Gain-
GNGT1-
-
-
-
3Gain-
GPC2-
-
-
-
3Gain-
GPER1-
-
-
-
3Gain-
GPNMB-
-
-
-
3Gain-
GPR141-
-
-
-
3Gain-
GPR146-
-
-
-
3Gain-
GPR22-
-
-
-
3Gain-
GPR37-
-
-
-
3Gain-
GPR85-
-
-
-
3Gain-
GPR89A-
-
-
-
1Loss-
GRB10-
-
-
-
3Gain-
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRM3-
-
-
-
3Gain-
GRM8-
-
-
-
3Gain-
GSAP-
-
-
-
3Gain-
GSDME-
-
-
-
3Gain-
GSTK1-
-
-
-
3Gain-
GTF2I-
-
-
-
3Gain-
GTF2IRD1-
-
-
-
3Gain-
GTF2IRD2-
-
-
-
3Gain-
GTF2IRD2B-
-
-
-
3Gain-
GTF3C4p.P43S
Missense
SNP
0.619
2--
GTPBP10-
-
-
-
3Gain-
GUSB-
-
-
-
3Gain-
H2AFV-
-
-
-
3Gain-
HBP1-
-
-
-
3Gain-
HDAC9-
-
-
-
3Gain-
HECW1-
-
-
-
3Gain-
HEPACAM2-
-
-
-
3Gain-
HERPUD2-
-
-
-
3Gain-
HGF-
-
-
-
3Gain-
HIBADH-
-
-
-
3Gain-
HILPDA-
-
-
-
3Gain-
HIP1-
-
-
-
3Gain-
HIPK2-
-
-
-
3Gain-
HIST2H2AA3-
-
-
-
1Loss-
HIST2H2AA4-
-
-
-
1Loss-
HIST2H2AC-
-
-
-
1Loss-
HIST2H2BE-
-
-
-
1Loss-
HIST2H2BF-
-
-
-
1Loss-
HIST2H3A-
-
-
-
1Loss-
HIST2H3C-
-
-
-
1Loss-
HIST2H3D-
-
-
-
1Loss-
HIST2H4A-
-
-
-
1Loss-
HIST2H4B-
-
-
-
1Loss-
HNRNPA2B1-
-
-
-
3Gain-
HOXA1-
-
-
-
3Gain-
HOXA10-
-
-
-
3Gain-
HOXA11-
-
-
-
3Gain-
HOXA13-
-
-
-
3Gain-
HOXA2-
-
-
-
3Gain-
HOXA3-
-
-
-
3Gain-
HOXA4-
-
-
-
3Gain-
HOXA5-
-
-
-
3Gain-
HOXA6-
-
-
-
3Gain-
HOXA7-
-
-
-
3Gain-
HOXA9-
-
-
-
3Gain-
HSPB1-
-
-
-
3Gain-
HTR5A-
-
-
-
3Gain-
HUS1-
-
-
-
3Gain-
HYAL4-
-
-
-
3Gain-
ICA1-
-
-
-
3Gain-
IFRD1-
-
-
-
3Gain-
IFT22-
-
-
-
3Gain-
IGF2BP3-
-
-
-
3Gain-
IGFBP1-
-
-
-
3Gain-
IGFBP3-
-
-
-
3Gain-
IKZF1-
-
-
-
3Gain-
IL6-
-
-
-
3Gain-
IMMP2L-
-
-
-
3Gain-
IMPDH1-
-
-
-
3Gain-
ING3-
-
-
-
3Gain-
INHBA-
-
-
-
3Gain-
INMT-
-
-
-
3Gain-
INMT-MINDY4-
-
-
-
3Gain-
INSIG1-
-
-
-
3Gain-
INTS1-
-
-
-
3Gain-
IQCE-
-
-
-
3Gain-
IQUB-
-
-
-
3Gain-
IRF5-
-
-
-
3Gain-
ISPD-
-
-
-
3Gain-
ITGB2p.E234K
Missense
SNP
0.513
2--
ITGB8-
-
-
-
3Gain-
ITPRID1-
-
-
-
3Gain-
JAZF1-
-
-
-
3Gain-
KBTBD2-
-
-
-
3Gain-
KCND2p.A201T
Missense
SNP
0.288
3Gain-
KCNH2-
-
-
-
3Gain-
KCP-
-
-
-
3Gain-
KCTD7-
-
-
-
3Gain-
KDELR2-
-
-
-
3Gain-
KDM7A-
-
-
-
3Gain-
KEL-
-
-
-
3Gain-
KIAA0895-
-
-
-
3Gain-
KIAA1147-
-
-
-
3Gain-
KIAA1324L-
-
-
-
3Gain-
KIAA1549-
-
-
-
3Gain-
KIF7p.R691C
Missense
SNP
0.578
2--
KLF14-
-
-
-
3Gain-
KLHDC10-
-
-
-
3Gain-
KLHL7-
-
-
-
3Gain-
KLRG2-
-
-
-
3Gain-
KMT2C-
-
-
-
3Gain-
KMT2E-
-
-
-
3Gain-
KPNA7-
-
-
-
3Gain-
KRASp.G12R
Missense
SNP
0.405
2--
KRBA1-
-
-
-
3Gain-
KRIT1-
-
-
-
3Gain-
LAMB1-
-
-
-
3Gain-
LAMB4-
-
-
-
3Gain-
LAMTOR4-
-
-
-
3Gain-
LANCL2-
-
-
-
3Gain-
LAT2-
-
-
-
3Gain-
LEP-
-
-
-
3Gain-
LFNG-
-
-
-
3Gain-
LHFPL3-
-
-
-
3Gain-
LIMK1-
-
-
-
3Gain-
LLCFC1-
-
-
-
3Gain-
LMBR1-
-
-
-
3Gain-
LMOD2-
-
-
-
3Gain-
LMTK2-
-
-
-
3Gain-
LRCH4-
-
-
-
3Gain-
LRGUK-
-
-
-
3Gain-
LRRC17-
-
-
-
3Gain-
LRRC37A-
-
-
-
1Loss-
LRRC37A2-
-
-
-
1Loss-
LRRC4-
-
-
-
3Gain-
LRRC61-
-
-
-
3Gain-
LRRC72-
-
-
-
3Gain-
LRRD1-
-
-
-
3Gain-
LRRN3-
-
-
-
3Gain-
LRRTM4-
-
-
-
3Gain-
LRWD1-
-
-
-
3Gain-
LSM5-
-
-
-
3Gain-
LSM8-
-
-
-
3Gain-
LSMEM1-
-
-
-
3Gain-
LUC7L2-
-
-
-
3Gain-
LUZP6-
-
-
-
3Gain-
MACC1-
-
-
-
3Gain-
MAD1L1-
-
-
-
3Gain-
MAFK-
-
-
-
3Gain-
MAGI2p.R115*
Nonsense
SNP
0.255
3Gain-
MALSU1-
-
-
-
3Gain-
MBLAC1-
-
-
-
3Gain-
MCM7-
-
-
-
3Gain-
MDFIC-
-
-
-
3Gain-
MDH2-
-
-
-
3Gain-
MEOX2-
-
-
-
3Gain-
MEPCE-
-
-
-
3Gain-
MEST-
-
-
-
3Gain-
MET-
-
-
-
3Gain-
METTL27-
-
-
-
3Gain-
METTL2B-
-
-
-
3Gain-
MGAM-
-
-
-
3Gain-
MGAM2-
-
-
-
3Gain-
MICALL2-
-
-
-
3Gain-
MICU3p.R210Q
Missense
SNP
0.523
2--
MINDY4-
-
-
-
3Gain-
MIOS-
-
-
-
3Gain-
MKLN1-
-
-
-
3Gain-
MKRN1-
-
-
-
3Gain-
MLXIPL-
-
-
-
3Gain-
MMD2-
-
-
-
3Gain-
MNX1-
-
-
-
3Gain-
MOGAT3-
-
-
-
3Gain-
MOSPD3-
-
-
-
3Gain-
MPLKIP-
-
-
-
3Gain-
MPP6-
-
-
-
3Gain-
MRM2-
-
-
-
3Gain-
MROH2A-
-
-
-
1Loss-
MRPL32-
-
-
-
3Gain-
MRPS17-
-
-
-
3Gain-
MRPS24-
-
-
-
3Gain-
MRPS33-
-
-
-
3Gain-
MTERF1-
-
-
-
3Gain-
MTPN-
-
-
-
3Gain-
MTURN-
-
-
-
3Gain-
MUC12-
-
-
-
3Gain-
MUC17-
-
-
-
3Gain-
MUC3A-
-
-
-
3Gain-
MYL10-
-
-
-
3Gain-
MYL7-
-
-
-
3Gain-
MYO1G-
-
-
-
3Gain-
NACAD-
-
-
-
3Gain-
NAMPT-
-
-
-
3Gain-
NAPEPLD-
-
-
-
3Gain-
NAT16-
-
-
-
3Gain-
NBPF19-
-
-
-
1Loss-
NBPF20-
-
-
-
1Loss-
NBPF9-
-
-
-
1Loss-
NCAPG2-
-
-
-
3Gain-
NCF1-
-
-
-
3Gain-
NDRG3p.R232H
Missense
SNP
0.519
2--
NDUFA4-
-
-
-
3Gain-
NDUFA5-
-
-
-
3Gain-
NDUFB2-
-
-
-
3Gain-
NEUROD6-
-
-
-
3Gain-
NFE2L3-
-
-
-
3Gain-
NFE4-
-
-
-
3Gain-
NIPSNAP2-
-
-
-
3Gain-
NME8-
-
-
-
3Gain-
NOBOX-
-
-
-
3Gain-
NOD1-
-
-
-
3Gain-
NOM1-
-
-
-
3Gain-
NOS3-
-
-
-
3Gain-
NPC1L1-
-
-
-
3Gain-
NPSR1-
-
-
-
3Gain-
NPTX2-
-
-
-
3Gain-
NPVF-
-
-
-
3Gain-
NPY-
-
-
-
3Gain-
NRCAM-
-
-
-
3Gain-
NRF1-
-
-
-
3Gain-
NSF-
-
-
-
1Loss-
NSUN5-
-
-
-
3Gain-
NT5C3A-
-
-
-
3Gain-
NUB1-
-
-
-
3Gain-
NUDCD3-
-
-
-
3Gain-
NUDT1-
-
-
-
3Gain-
NUP205-
-
-
-
3Gain-
NUPL2-
-
-
-
3Gain-
NUPR2-
-
-
-
3Gain-
NXPH1-
-
-
-
3Gain-
NYAP1-
-
-
-
3Gain-
OCM-
-
-
-
3Gain-
OCM2-
-
-
-
3Gain-
OGDH-
-
-
-
3Gain-
OPN1SW-
-
-
-
3Gain-
OR2A1-
-
-
-
3Gain-
OR2A12-
-
-
-
3Gain-
OR2A14-
-
-
-
3Gain-
OR2A2-
-
-
-
3Gain-
OR2A25-
-
-
-
3Gain-
OR2A42-
-
-
-
3Gain-
OR2A5-
-
-
-
3Gain-
OR2A7-
-
-
-
3Gain-
OR2AE1-
-
-
-
3Gain-
OR2F1-
-
-
-
3Gain-
OR2F2-
-
-
-
3Gain-
OR2T33p.E2*
Nonsense
SNP
0.429
2--
OR6B1-
-
-
-
3Gain-
OR6V1-
-
-
-
3Gain-
OR9A2-
-
-
-
3Gain-
OR9A4-
-
-
-
3Gain-
ORAI2-
-
-
-
3Gain-
ORC5-
-
-
-
3Gain-
OSBPL3-
-
-
-
3Gain-
PAK1p.X517_splice
Splice_Site
SNP
0.605
2--
PALB2p.E1083D
Missense
SNP
0.490
2--
PAPOLB-
-
-
-
3Gain-
PARP12p.R357H
Missense
SNP
0.340
3Gain-
PAX4-
-
-
-
3Gain-
PAXIP1-
-
-
-
3Gain-
PCDHA4p.D690N
Missense
SNP
0.500
2--
PCDHA6p.A322T
Missense
SNP
0.488
2--
PCLO-
-
-
-
3Gain-
PCOLCE-
-
-
-
3Gain-
PDAP1-
-
-
-
3Gain-
PDE1C-
-
-
-
3Gain-
PDGFA-
-
-
-
3Gain-
PDIA4-
-
-
-
3Gain-
PDK4-
-
-
-
3Gain-
PEG10-
-
-
-
3Gain-
PEX1-
-
-
-
3Gain-
PGAM2-
-
-
-
3Gain-
PHF14-
-
-
-
3Gain-
PHKG1-
-
-
-
3Gain-
PHTF2-
-
-
-
3Gain-
PIK3CAp.V344M
p.H1047R
Missense
Missense
SNP
SNP
0.564
0.467
2--
PIK3CG-
-
-
-
3Gain-
PILRA-
-
-
-
3Gain-
PILRB-
-
-
-
3Gain-
PIP-
-
-
-
3Gain-
PKD1L1-
-
-
-
3Gain-
PKHD1L1p.A2644V
Missense
DNP
0.523
2--
PLA2G4A-
-
-
-
3Gain-
PLEKHA5p.X816_splice
Splice_Site
SNP
0.512
2--
PLEKHA8-
-
-
-
3Gain-
PLOD3-
-
-
-
3Gain-
PLXNA4-
-
-
-
3Gain-
PMPCB-
-
-
-
3Gain-
PMS2-
-
-
-
3Gain-
PNPLA8-
-
-
-
3Gain-
PODXL-
-
-
-
3Gain-
POLD2-
-
-
-
3Gain-
POLM-
-
-
-
3Gain-
POLR2J-
-
-
-
3Gain-
POLR2J2-
-
-
-
3Gain-
POLR2J3-
-
-
-
3Gain-
POM121-
-
-
-
3Gain-
POM121C-
-
-
-
3Gain-
POM121L12-
-
-
-
3Gain-
POMZP3-
-
-
-
3Gain-
PON1-
-
-
-
3Gain-
PON2-
-
-
-
3Gain-
PON3-
-
-
-
3Gain-
POP7-
-
-
-
3Gain-
POR-
-
-
-
3Gain-
POT1-
-
-
-
3Gain-
POU6F2-
-
-
-
3Gain-
PPIA-
-
-
-
3Gain-
PPP1R17-
-
-
-
3Gain-
PPP1R35-
-
-
-
3Gain-
PPP1R3A-
-
-
-
3Gain-
PPP1R9A-
-
-
-
3Gain-
PRADC1p.R135H
Missense
SNP
0.519
2--
PRKAG2-
-
-
-
3Gain-
PRKAR1B-
-
-
-
3Gain-
PRKAR2B-
-
-
-
3Gain-
PRKRIP1-
-
-
-
3Gain-
PRPS1L1-
-
-
-
3Gain-
PRR15-
-
-
-
3Gain-
PRR21p.R95L
Missense
SNP
0.958
NDND-
PRRT4-
-
-
-
3Gain-
PRSS1-
-
-
-
3Gain-
PRSS2-
-
-
-
3Gain-
PRSS37-
-
-
-
3Gain-
PRSS58-
-
-
-
3Gain-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSMA2-
-
-
-
3Gain-
PSMC2-
-
-
-
3Gain-
PSMG3-
-
-
-
3Gain-
PSPH-
-
-
-
3Gain-
PTCD1-
-
-
-
3Gain-
PTN-
-
-
-
3Gain-
PTPN12-
-
-
-
3Gain-
PTPRN2-
-
-
-
3Gain-
PTPRZ1-
-
-
-
3Gain-
PTTG2p.R61G
Missense
SNP
0.462
2--
PURB-
-
-
-
3Gain-
PUS7-
-
-
-
3Gain-
PVRIG-
-
-
-
3Gain-
RAB19-
-
-
-
3Gain-
RABGEF1-
-
-
-
3Gain-
RAC1-
-
-
-
3Gain-
RADIL-
-
-
-
3Gain-
RALA-
-
-
-
3Gain-
RAMP3-
-
-
-
3Gain-
RAPGEF5-
-
-
-
3Gain-
RARRES2-
-
-
-
3Gain-
RASA4-
-
-
-
3Gain-
RASA4B-
-
-
-
3Gain-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBM28-
-
-
-
3Gain-
RBM33-
-
-
-
3Gain-
RBM48-
-
-
-
3Gain-
RCC1L-
-
-
-
3Gain-
RELN-
-
-
-
3Gain-
REPIN1-
-
-
-
3Gain-
RFC2-
-
-
-
3Gain-
RGL1p.A468D
Missense
SNP
0.433
2--
RGPD1-
-
-
-
0Del-
RGPD2-
-
-
-
0Del-
RGS18-
-
-
-
3Gain-
RGS21-
-
-
-
3Gain-
RHBDD2-
-
-
-
3Gain-
RHEB-
-
-
-
3Gain-
RHOBp.I4F
Missense
SNP
0.454
2--
RINT1-
-
-
-
3Gain-
RNF133-
-
-
-
3Gain-
RNF148-
-
-
-
3Gain-
RNF216-
-
-
-
3Gain-
RNF32-
-
-
-
3Gain-
RP9-
-
-
-
3Gain-
RPA3-
-
-
-
3Gain-
RRADp.R254C
Missense
SNP
0.439
2--
RSBN1L-
-
-
-
3Gain-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSRC2-
-
-
-
2-ZCCHC8--RSRC2
RUNDC3B-
-
-
-
3Gain-
SAMD9-
-
-
-
3Gain-
SAMD9L-
-
-
-
3Gain-
SAP25-
-
-
-
3Gain-
SBDS-
-
-
-
3Gain-
SCIN-
-
-
-
3Gain-
SCRN1-
-
-
-
3Gain-
SDHAF3-
-
-
-
3Gain-
SDK1-
-
-
-
3Gain-
SEC61G-
-
-
-
3Gain-
SEM1-
-
-
-
3Gain-
SEMA3A-
-
-
-
3Gain-
SEMA3C-
-
-
-
3Gain-
SEMA3D-
-
-
-
3Gain-
SEMA3E-
-
-
-
3Gain-
SEPT14-
-
-
-
3Gain-
SEPT7-
-
-
-
3Gain-
SERPINE1-
-
-
-
3Gain-
SFRP4-
-
-
-
3Gain-
SGCE-
-
-
-
3Gain-
SH2B2-
-
-
-
3Gain-
SHH-
-
-
-
3Gain-
SKAP2-
-
-
-
3Gain-
SLC12A9-
-
-
-
3Gain-
SLC13A1-
-
-
-
3Gain-
SLC13A4-
-
-
-
3Gain-
SLC25A13-
-
-
-
3Gain-
SLC25A40-
-
-
-
3Gain-
SLC26A3-
-
-
-
3Gain-
SLC26A4-
-
-
-
3Gain-
SLC26A5-
-
-
-
3Gain-
SLC29A4-
-
-
-
3Gain-
SLC35B4-
-
-
-
3Gain-
SLC37A3-
-
-
-
3Gain-
SLC38A9p.S268A
Missense
SNP
0.443
2--
SLC4A2-
-
-
-
3Gain-
SMAD4p.X437_splice
Splice_Site
SNP
1.000
2--
SMARCD3-
-
-
-
3Gain-
SMIM30-
-
-
-
3Gain-
SMKR1-
-
-
-
3Gain-
SMO-
-
-
-
3Gain-
SMURF1-
-
-
-
3Gain-
SND1-
-
-
-
3Gain-
SNX10-
-
-
-
3Gain-
SNX13-
-
-
-
3Gain-
SNX24p.S113T
Missense
SNP
0.520
2--
SNX8-
-
-
-
3Gain-
SOSTDC1-
-
-
-
3Gain-
SOX9p.S438*
Nonsense
SNP
1.000
2--
SP4-
-
-
-
3Gain-
SP8-
-
-
-
3Gain-
SPAM1-
-
-
-
3Gain-
SPATA48-
-
-
-
3Gain-
SPDYE3-
-
-
-
3Gain-
SPESP1p.I230N
Missense
SNP
0.505
2--
SRI-
-
-
-
3Gain-
SRPK2-
-
-
-
3Gain-
SRRM3-
-
-
-
3Gain-
SRRT-
-
-
-
3Gain-
SSBP1-
-
-
-
3Gain-
SSC4D-
-
-
-
3Gain-
SSMEM1-
-
-
-
3Gain-
SSPO-
-
-
-
3Gain-
SSU72P8-
-
-
-
3Gain-
ST7-
-
-
-
3Gain-
STAG3-
-
-
-
3Gain-
STARD3NL-
-
-
-
3Gain-
STEAP1-
-
-
-
3Gain-
STEAP1B-
-
-
-
3Gain-
STEAP2-
-
-
-
3Gain-
STEAP4-
-
-
-
3Gain-
STK17A-
-
-
-
3Gain-
STK31-
-
-
-
3Gain-
STMP1-
-
-
-
3Gain-
STRA8-
-
-
-
3Gain-
STRIP2-
-
-
-
3Gain-
STX1A-
-
-
-
3Gain-
STYXL1-
-
-
-
3Gain-
SUGCT-
-
-
-
3Gain-
SUMF2-
-
-
-
3Gain-
SUN1-
-
-
-
3Gain-
SUN3-
-
-
-
3Gain-
SVOPL-
-
-
-
3Gain-
SYCP1p.R955H
Missense
SNP
0.598
2--
SYPL1-
-
-
-
3Gain-
TAC1-
-
-
-
3Gain-
TAF6-
-
-
-
3Gain-
TAS2R16-
-
-
-
3Gain-
TAS2R3-
-
-
-
3Gain-
TAS2R38-
-
-
-
3Gain-
TAS2R39-
-
-
-
3Gain-
TAS2R4-
-
-
-
3Gain-
TAS2R40-
-
-
-
3Gain-
TAS2R41-
-
-
-
3Gain-
TAS2R5-
-
-
-
3Gain-
TAS2R60-
-
-
-
3Gain-
TAX1BP1-
-
-
-
3Gain-
TBL2-
-
-
-
3Gain-
TBRG4-
-
-
-
3Gain-
TBX20-
-
-
-
3Gain-
TBXAS1-
-
-
-
3Gain-
TCAF1-
-
-
-
3Gain-
TCAF2-
-
-
-
3Gain-
TDRD9p.R725*
Nonsense
SNP
0.464
2--
TECPR1-
-
-
-
3Gain-
TENM3p.R1375C
Missense
SNP
0.522
2--
TES-
-
-
-
3Gain-
TEX13Bp.V282F
Missense
SNP
1.000
NDND-
TEX47-
-
-
-
3Gain-
TFEC-
-
-
-
3Gain-
TFPI2-
-
-
-
3Gain-
TFR2-
-
-
-
3Gain-
THAP5-
-
-
-
3Gain-
THSD7A-
-
-
-
3Gain-
TMED4-
-
-
-
3Gain-
TMEM106B-
-
-
-
3Gain-
TMEM120A-
-
-
-
3Gain-
TMEM130-
-
-
-
3Gain-
TMEM139-
-
-
-
3Gain-
TMEM140-
-
-
-
3Gain-
TMEM168-
-
-
-
3Gain-
TMEM176A-
-
-
-
3Gain-
TMEM176B-
-
-
-
3Gain-
TMEM178B-
-
-
-
3Gain-
TMEM184A-
-
-
-
3Gain-
TMEM196-
-
-
-
3Gain-
TMEM209-
-
-
-
3Gain-
TMEM213-
-
-
-
3Gain-
TMEM225B-
-
-
-
3Gain-
TMEM229A-
-
-
-
3Gain-
TMEM243-
-
-
-
3Gain-
TMEM248-
-
-
-
3Gain-
TMEM270-
-
-
-
3Gain-
TMEM60-
-
-
-
3Gain-
TMUB1-
-
-
-
3Gain-
TNPO3-
-
-
-
3Gain-
TNRC18-
-
-
-
3Gain-
TNRC6Ap.D1488N
Missense
SNP
0.517
2--
TNS3-
-
-
-
3Gain-
TOMM7-
-
-
-
3Gain-
TOR1AIP2p.E185K
Missense
SNP
0.535
2--
TPK1-
-
-
-
3Gain-
TPST1-
-
-
-
3Gain-
TRA2A-
-
-
-
3Gain-
TRAPPC12p.V693M
Missense
SNP
0.460
2--
TRIL-
-
-
-
3Gain-
TRIM24-
-
-
-
3Gain-
TRIM4-
-
-
-
3Gain-
TRIM42p.R213H
Missense
SNP
0.526
2--
TRIM50-
-
-
-
3Gain-
TRIM56-
-
-
-
3Gain-
TRIM73-
-
-
-
3Gain-
TRIM74-
-
-
-
3Gain-
TRIP6-
-
-
-
3Gain-
TRPV5-
-
-
-
3Gain-
TRPV6-
-
-
-
3Gain-
TRRAP-
-
-
-
3Gain-
TSC22D4-
-
-
-
3Gain-
TSGA13-
-
-
-
3Gain-
TSPAN12-
-
-
-
3Gain-
TSPAN13-
-
-
-
3Gain-
TSPAN33-
-
-
-
3Gain-
TTC26-
-
-
-
3Gain-
TTYH3-
-
-
-
3Gain-
TWIST1-
-
-
-
3Gain-
TWISTNB-
-
-
-
3Gain-
TYW1-
-
-
-
3Gain-
TYW1B-
-
-
-
3Gain-
UBE2D4-
-
-
-
3Gain-
UBE2H-
-
-
-
3Gain-
UBE3C-
-
-
-
3Gain-
UBN2-
-
-
-
3Gain-
UFSP1-
-
-
-
3Gain-
UGT1A1-
-
-
-
1Loss-
UGT1A10-
-
-
-
1Loss-
UGT1A3-
-
-
-
1Loss-
UGT1A4-
-
-
-
1Loss-
UGT1A5-
-
-
-
1Loss-
UGT1A6-
-
-
-
1Loss-
UGT1A7-
-
-
-
1Loss-
UGT1A8-
-
-
-
1Loss-
UGT1A9-
-
-
-
1Loss-
UMAD1-
-
-
-
3Gain-
UNCX-
-
-
-
3Gain-
UPK3B-
-
-
-
3Gain-
UPK3BL1-
-
-
-
3Gain-
UPP1-
-
-
-
3Gain-
URGCP-
-
-
-
3Gain-
URGCP-MRPS24-
-
-
-
3Gain-
USP42-
-
-
-
3Gain-
UTP20p.S1399L
Missense
SNP
0.430
2--
VAV2p.E875K
Missense
SNP
0.481
2--
VGF-
-
-
-
3Gain-
VIPR2-
-
-
-
3Gain-
VKORC1L1-
-
-
-
3Gain-
VOPP1-
-
-
-
3Gain-
VPS37D-
-
-
-
3Gain-
VPS41-
-
-
-
3Gain-
VPS50-
-
-
-
3Gain-
VSTM2A-
-
-
-
3Gain-
VWC2-
-
-
-
3Gain-
VWDE-
-
-
-
3Gain-
WASL-
-
-
-
3Gain-
WDR60-
-
-
-
3Gain-
WDR86-
-
-
-
3Gain-
WDR91-
-
-
-
3Gain-
WEE2-
-
-
-
3Gain-
WIPF3-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WNT16-
-
-
-
3Gain-
WNT2-
-
-
-
3Gain-
XRCC2-
-
-
-
3Gain-
YAE1-
-
-
-
3Gain-
YKT6-
-
-
-
3Gain-
YWHAG-
-
-
-
3Gain-
ZAN-
-
-
-
3Gain-
ZBED6CL-
-
-
-
3Gain-
ZC2HC1Cp.R6Q
Missense
SNP
0.529
2--
ZC3HAV1-
-
-
-
3Gain-
ZC3HAV1L-
-
-
-
3Gain-
ZC3HC1-
-
-
-
3Gain-
ZCCHC8-
-
-
-
2-ZCCHC8--RSRC2
ZCWPW1-
-
-
-
3Gain-
ZDHHC4-
-
-
-
3Gain-
ZFAND2A-
-
-
-
3Gain-
ZFRp.L554P
Missense
SNP
0.483
2--
ZKSCAN1-
-
-
-
3Gain-
ZKSCAN5-
-
-
-
3Gain-
ZKSCAN7-
-
-
-
1Loss-
ZMIZ2-
-
-
-
3Gain-
ZNF107-
-
-
-
3Gain-
ZNF117-
-
-
-
3Gain-
ZNF12-
-
-
-
3Gain-
ZNF138-
-
-
-
3Gain-
ZNF197-
-
-
-
1Loss-
ZNF212p.A228V
Missense
SNP
0.679
3Gain-
ZNF273-
-
-
-
3Gain-
ZNF277-
-
-
-
3Gain-
ZNF282-
-
-
-
3Gain-
ZNF3-
-
-
-
3Gain-
ZNF316-
-
-
-
3Gain-
ZNF35-
-
-
-
1Loss-
ZNF365p.R143Q
Missense
SNP
0.541
2--
ZNF394-
-
-
-
3Gain-
ZNF398-
-
-
-
3Gain-
ZNF425-
-
-
-
3Gain-
ZNF467-
-
-
-
3Gain-
ZNF479-
-
-
-
3Gain-
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF655-
-
-
-
3Gain-
ZNF660-
-
-
-
1Loss-
ZNF679-
-
-
-
3Gain-
ZNF680-
-
-
-
3Gain-
ZNF713-
-
-
-
3Gain-
ZNF716-
-
-
-
3Gain-
ZNF727-
-
-
-
3Gain-
ZNF735-
-
-
-
3Gain-
ZNF736-
-
-
-
3Gain-
ZNF746-
-
-
-
3Gain-
ZNF75Dp.D407N
Missense
SNP
1.000
NDND-
ZNF775-
-
-
-
3Gain-
ZNF777-
-
-
-
3Gain-
ZNF783-
-
-
-
3Gain-
ZNF786-
-
-
-
3Gain-
ZNF789-
-
-
-
3Gain-
ZNF800-
-
-
-
3Gain-
ZNF804B-
-
-
-
3Gain-
ZNF852-
-
-
-
1Loss-
ZNF853-
-
-
-
3Gain-
ZNF862-
-
-
-
3Gain-
ZNF92-
-
-
-
3Gain-
ZNHIT1-
-
-
-
3Gain-
ZNRF2-
-
-
-
3Gain-
ZP3-
-
-
-
3Gain-
ZPBP-
-
-
-
3Gain-
ZSCAN21-
-
-
-
3Gain-
ZSCAN25-
-
-
-
3Gain-
ZYX-
-
-
-
3Gain-