Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name CEBPA gene CEBPA TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myeloid hematological malignancy (leukemia) False 1 0;0;0 1.95 False ENSG00000245848 ENSG00000245848 HGNC:1833 CEP57 gene CEP57 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Mosaic Variegated Aneuploidy Syndrome False 1 0;0;0 1.95 False ENSG00000166037 ENSG00000166037 HGNC:30794 CYLD gene CYLD TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Cylindromatosis; Brooke-Spiegler Syndrome; Familial Multiple Trichoepithelioma-1; Cylindroma; Trichoepithelioma; Spiradenoma False 1 0;0;0 1.95 False ENSG00000083799 ENSG00000083799 HGNC:2584 DDB2 gene DDB2 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Xeroderma Pigmentosum (E); Basal cell carcinoma; Squamous cell carcinoma; Melanoma False 1 0;0;0 1.95 False ENSG00000134574 ENSG00000134574 HGNC:2718 EGFR gene EGFR TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Non-small cell lung cancer False 1 0;0;0 1.95 False ENSG00000146648 ENSG00000146648 HGNC:3236 ERCC2 gene ERCC2 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma Pigmentosum (D); Basal cell carcinoma; Squamous cell carcinoma; Melanoma False 1 0;0;0 1.95 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma Pigmentosum (B); Basal cell carcinoma; Squamous cell carcinoma; Melanoma False 1 0;0;0 1.95 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC5 gene ERCC5 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma Pigmentosum (G); Basal cell carcinoma; Squamous cell carcinoma; Melanoma False 1 0;0;0 1.95 False ENSG00000134899 ENSG00000134899 HGNC:3437 ESR1 gene ESR1 Other Multiple Tumours Multiple Primaries Tumour syndromes Unknown Estrogen resistance, 615363; {HDL response to hormone replacement, augmented}; {Migraine, susceptibility to}, 157300; {Atherosclerosis, susceptibility to}; {Myocardial infarction, susceptibility to}, 608446; {Breast cancer}, 114480 False 1 0;0;0 1.95 False ENSG00000091831 ENSG00000091831 HGNC:3467 EXT1 gene EXT1 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Chondrosarcoma False 1 0;0;0 1.95 False ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Chondrosarcoma False 1 0;0;0 1.95 False ENSG00000151348 ENSG00000151348 HGNC:3513 FANCM gene FANCM Expert Review Red;TruSight Cancer Panel (Illumina);UKGTN Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia (M); Myeloid hematological malignancy (leukemia, myelodysplastic syndrome); Squamous cell carcinoma (head and neck, esophagus, genital tract) ;Paediatric congenital malformation-dysmorphism-tumour syndromes 16116422;19423727;25078778 False 1 0;0;0 1.95 False ENSG00000187790 ENSG00000187790 HGNC:23168 FAP gene FAP Other Multiple Tumours Multiple Primaries Tumour syndromes Unknown Colorectal cancer False 1 0;0;0 1.95 False ENSG00000078098 ENSG00000078098 HGNC:3590 FOXO1 gene FOXO1 Other Multiple Tumours Multiple Primaries Tumour syndromes Unknown Rhabdomyosarcoma alveolar False 1 0;0;0 1.95 False ENSG00000150907 ENSG00000150907 HGNC:3819 FOXO3 gene FOXO3 Other Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted " Hamartomatous polyposis syndromes including Peutz-Jeghers and PTEN hamartoma tumor syndromes " 25208626 False 1 0;0;0 1.95 False ENSG00000118689 ENSG00000118689 HGNC:3821 GATA2 gene GATA2 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Emberger Syndrome; Myeloid hematological malignancy (leukemia, myelodysplastic syndrome) False 1 0;0;0 1.95 False ENSG00000179348 ENSG00000179348 HGNC:4171 GDNF gene GDNF Other Multiple Tumours Multiple Primaries Tumour syndromes Unknown Central hypoventilation syndrome, 209880{Pheochromocytoma, modifier of}, 171300{Hirschsprung disease, susceptibility to, 3}, 613711 False 1 0;0;0 1.95 False ENSG00000168621 ENSG00000168621 HGNC:4232 GREM1 gene GREM1 Other Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Colorectal cancer, increased risk, association with}(Peters (2012) Hum Genet 131,217); Oligosyndactyly of the hands, Cenani-Linz-like (Dimitrov (2010) J Med Genet 47,569); Mixed polyposis syndrome (Jaeger (2012) Nat Genet 44,699); Polyposis Syndrome, Hereditary Mixed, 1; Hereditary Mixed Polyposis Syndrome Nat Genet. 2012 May 6 44(6):699-703. doi: 10.1038/ng.2263. False 1 0;0;0 1.95 False ENSG00000166923 ENSG00000166923 HGNC:2001 HOXB13 gene HOXB13 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Prostate cancer False 1 0;0;0 1.95 False ENSG00000159184 ENSG00000159184 HGNC:5112 PRF1 gene PRF1 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Familial Hemophagocytic Lymphohistiocytosis; Lymphoid hematological malignancy (lymphoma) False 1 0;0;0 1.95 False ENSG00000180644 ENSG00000180644 HGNC:9360 RHBDF2 gene RHBDF2 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Esophageal cancer False 1 0;0;0 1.95 False ENSG00000129667 ENSG00000129667 HGNC:20788 RUNX1 gene RUNX1 TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myeloid hematological malignancy (leukemia) False 1 0;0;0 1.95 False ENSG00000159216 ENSG00000159216 HGNC:10471 SBDS gene SBDS TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Schwachman-Diamond Syndrome; Myeloid hematological malignancy (leukemia, myelodysplastic syndrome) False 1 0;0;0 1.95 False ENSG00000126524 ENSG00000126524 HGNC:19440 WRN gene WRN TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Werner Syndrome; Sarcoma; Melanoma; Thyroid cancer False 1 0;0;0 1.95 False ENSG00000165392 ENSG00000165392 HGNC:12791 XPA gene XPA TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum (A) Basal cell carcinoma; Squamous cell carcinoma; Melanoma False 1 0;0;0 1.95 False ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC TruSight Cancer Panel (Illumina) Multiple Tumours Multiple Primaries Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum (C) Basal cell carcinoma; Squamous cell carcinoma; Melanoma False 1 0;0;0 1.95 False ENSG00000154767 ENSG00000154767 HGNC:12816