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			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Bowel cancer predisposition;Familial Adenomatous Polyposis;Adult and child						False	3	0;0;0	0.116	False		ENSG00000134982	ENSG00000134982	HGNC:583													
APOB	gene	APOB	Expert Review Green;Other	Additional findings health related			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial hypercholesterolaemia;Adult and child						False	3	100;0;0	0.116	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000084674	ENSG00000084674	HGNC:603													
BRCA1	gene	BRCA1	Expert list;Expert Review Green	Additional findings health related			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Breast-ovarian cancer, familial, 1}, OMIM:604370;Breast and ovarian cancer predisposition;Adult only						False	3	0;0;0	0.116	False		ENSG00000012048	ENSG00000012048	HGNC:1100													
BRCA2	gene	BRCA2	Expert list;Expert Review Green	Additional findings health related			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	0.116	False		ENSG00000139618	ENSG00000139618	HGNC:1101													
LDLR	gene	LDLR	Expert list;Expert Review Green	Additional findings health related			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Familial hypercholesterolaemia;Adult and child						False	3	0;0;0	0.116	False		ENSG00000130164	ENSG00000130164	HGNC:6547													
MEN1	gene	MEN1	Expert list;Expert Review Green	Additional findings health related			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other cancer predisposition;Myltiple endocrine Neoplasia Type 1;Adult and child						False	3	0;0;0	0.116	False		ENSG00000133895	ENSG00000133895	HGNC:7010													
MLH1	gene	MLH1	Expert list;Expert Review Green	Additional findings health related			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Bowel cancer predisposition;Hereditary non-polyposis colorectal cancer;Adult only						False	3	0;0;0	0.116	False		ENSG00000076242	ENSG00000076242	HGNC:7127													
MSH2	gene	MSH2	Expert list;Expert Review Green	Additional findings health related			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Bowel cancer predisposition;Hereditary non-polyposis colorectal cancer;Adult only						False	3	0;0;0	0.116	False		ENSG00000095002	ENSG00000095002	HGNC:7325													
MSH6	gene	MSH6	Expert Review Green;Other	Additional findings health related			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Bowel cancer predisposition;Hereditary non-polyposis colorectal cancer;Adult only						False	3	0;0;0	0.116	False		ENSG00000116062	ENSG00000116062	HGNC:7329													
MUTYH	gene	MUTYH	Expert Review Green;Other	Additional findings health related			BIALLELIC, autosomal or pseudoautosomal	Bowel cancer predisposition;MYH-associated polyposis;Adult only						False	3	0;0;0	0.116	False		ENSG00000132781	ENSG00000132781	HGNC:7527													
PCSK9	gene	PCSK9	Expert Review Green;Other	Additional findings health related			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Familial hypercholesterolaemia;Adult and child						False	3	0;0;0	0.116	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000169174	ENSG00000169174	HGNC:20001													
RET	gene	RET	Expert Review Green;Other	Additional findings health related			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other cancer predisposition;Myltiple endocrine Neoplasia Type 2;Adult and child						False	3	0;0;0	0.116	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000165731	ENSG00000165731	HGNC:9967													
VHL	gene	VHL	Expert Review Green;Other	Additional findings health related			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other cancer predisposition;Von Hippel Lindau Syndrome;Adult and child						False	3	0;0;0	0.116	False		ENSG00000134086	ENSG00000134086	HGNC:12687