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
ADM	gene	ADM	Expert list	GI tract tumours	GI tract	Tumour syndromes								False	1	0;0;100	1.27	False		ENSG00000148926	ENSG00000148926	HGNC:259													
BRCA1	gene	BRCA1	Emory Genetics Laboratory	GI tract tumours	GI tract	Tumour syndromes		Gastrointestinal and Colorectal Cancer 						False	1	0;0;100	1.27	False		ENSG00000012048	ENSG00000012048	HGNC:1100													
BRCA2	gene	BRCA2	Emory Genetics Laboratory	GI tract tumours	GI tract	Tumour syndromes		Gastrointestinal and Colorectal Cancer 						False	1	0;0;100	1.27	False		ENSG00000139618	ENSG00000139618	HGNC:1101													
CDKN2A	gene	CDKN2A	Emory Genetics Laboratory	GI tract tumours	GI tract	Tumour syndromes		Gastrointestinal and Colorectal Cancer 						False	1	0;0;100	1.27	False		ENSG00000147889	ENSG00000147889	HGNC:1787													
CHEK2	gene	CHEK2	Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services	GI tract tumours	GI tract	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Colorectal cancer;Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer						False	1	0;0;100	1.27	False		ENSG00000183765	ENSG00000183765	HGNC:16627													
ENG	gene	ENG	Expert Review Red;Illumina TruGenome Clinical Sequencing Services	GI tract tumours	GI tract	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Juvenile Polyposis						False	1	0;0;0	1.27	False		ENSG00000106991	ENSG00000106991	HGNC:3349													
FOXO3	gene	FOXO3	Literature	GI tract tumours	GI tract	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hamartomatous polyposis syndromes including Peutz-Jeghers and PTEN hamartoma tumor syndromes 				25208626		False	1	0;0;100	1.27	False		ENSG00000118689	ENSG00000118689	HGNC:3821													
GREM1	gene	GREM1	Expert Review Red;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	GI tract tumours	GI tract	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	100;0;0	1.27	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000166923	ENSG00000166923	HGNC:2001													
MSH3	gene	MSH3	Expert Review Red;NHS GMS;Research	GI tract tumours	GI tract	Tumour syndromes	BIALLELIC, autosomal or pseudoautosomal							False	1	50;0;50	1.27	False		ENSG00000113318	ENSG00000113318	HGNC:7326													
PTPN12	gene	PTPN12	Radboud University Medical Center, Nijmegen	GI tract tumours	GI tract	Tumour syndromes		Colon cancer				7509295		False	1	0;0;100	1.27	False		ENSG00000127947	ENSG00000127947	HGNC:9645													
RNF43	gene	RNF43	NHS GMS	GI tract tumours	GI tract	Tumour syndromes								False	1	100;0;0	1.27	False		ENSG00000108375	ENSG00000108375	HGNC:18505													
SLC26A3	gene	SLC26A3	Radboud University Medical Center, Nijmegen	GI tract tumours	GI tract	Tumour syndromes		?Colon cancer (1); Chloride diarrhea, congenital, Finnish type, 214700						False	1	0;50;50	1.27	False		ENSG00000091138	ENSG00000091138	HGNC:3018													
SMAD9	gene	SMAD9	Literature	GI tract tumours	GI tract	Tumour syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hamartomatous Polyposis; Gastrointestinal Ganglioneuromas				26122142		False	1	0;0;100	1.27	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000120693	ENSG00000120693	HGNC:6774													
SRC	gene	SRC	Radboud University Medical Center, Nijmegen	GI tract tumours	GI tract	Tumour syndromes		?Colon cancer, advanced						False	1	0;50;50	1.27	False		ENSG00000197122	ENSG00000197122	HGNC:11283													
TP53	gene	TP53	Emory Genetics Laboratory	GI tract tumours	GI tract	Tumour syndromes		Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer						False	1	0;0;100	1.27	False		ENSG00000141510	ENSG00000141510	HGNC:11998