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
APC	gene	APC	Expert list;Expert Review Green	Additional findings health related - CNV analysis adults			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Familial Adenomatous Polyposis;Adult and child;Bowel cancer predisposition						False	3	0;0;0	2.4	False		ENSG00000134982	ENSG00000134982	HGNC:583													
BRCA1	gene	BRCA1	Expert list;Expert Review Green	Additional findings health related - CNV analysis adults			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Breast-ovarian cancer, familial, 1}, OMIM:604370;Adult only						False	3	0;0;0	2.4	False		ENSG00000012048	ENSG00000012048	HGNC:1100													
BRCA2	gene	BRCA2	Expert list;Expert Review Green	Additional findings health related - CNV analysis adults			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Breast-ovarian cancer, familial, 2}, OMIM:612555;{Breast cancer, male, susceptibility to}, OMIM:114480;Adult only						False	3	0;0;0	2.4	False		ENSG00000139618	ENSG00000139618	HGNC:1101													
LDLR	gene	LDLR	Expert list;Expert Review Green	Additional findings health related - CNV analysis adults			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial hypercholesterolaemia;Adult and child						False	3	0;0;0	2.4	False		ENSG00000130164	ENSG00000130164	HGNC:6547													
MEN1	gene	MEN1	Expert list;Expert Review Green	Additional findings health related - CNV analysis adults			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Myltiple endocrine Neoplasia Type 1;Other cancer predisposition;Adult and child						False	3	0;0;0	2.4	False		ENSG00000133895	ENSG00000133895	HGNC:7010													
MLH1	gene	MLH1	Expert list;Expert Review Green	Additional findings health related - CNV analysis adults			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Bowel cancer predisposition;Adult only;Hereditary non-polyposis colorectal cancer						False	3	0;0;0	2.4	False		ENSG00000076242	ENSG00000076242	HGNC:7127													
MSH2	gene	MSH2	Expert list;Expert Review Green	Additional findings health related - CNV analysis adults			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Bowel cancer predisposition;Adult only;Hereditary non-polyposis colorectal cancer						False	3	0;0;0	2.4	False		ENSG00000095002	ENSG00000095002	HGNC:7325													
MSH6	gene	MSH6	Other;Expert Review Green	Additional findings health related - CNV analysis adults			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Bowel cancer predisposition;Adult only;Hereditary non-polyposis colorectal cancer						False	3	0;0;0	2.4	False		ENSG00000116062	ENSG00000116062	HGNC:7329													
MUTYH	gene	MUTYH	Other;Expert Review Green	Additional findings health related - CNV analysis adults			BIALLELIC, autosomal or pseudoautosomal	Adult only;Bowel cancer predisposition;MYH-associated polyposis						False	3	0;0;0	2.4	False		ENSG00000132781	ENSG00000132781	HGNC:7527													
VHL	gene	VHL	Other;Expert Review Green	Additional findings health related - CNV analysis adults			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Von Hippel Lindau Syndrome;Other cancer predisposition;Adult and child						False	3	0;0;0	2.4	False		ENSG00000134086	ENSG00000134086	HGNC:12687