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
BRCA1	gene	BRCA1	Expert list;Expert Review;Expert Review Green	Endometrial Cancer		Cancer Predisposition	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Endometrial cancer, MONDO:0011962;BRCA1-related cancer predisposition, MONDO:0700268;Breast-ovarian cancer, familial, 1, MIM#604370			Endometrial carcinoma;HP:0012114			False	3	100;0;0	1.1	True		ENSG00000012048	ENSG00000012048	HGNC:1100													
EPCAM	gene	EPCAM	Expert list;Expert Review;Expert Review Green	Endometrial Cancer		Cancer Predisposition	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Endometrial cancer, MONDO:0011962;Lynch syndrome 8, MONDO:0013196;Lynch syndrome 8, MIM#613244			Endometrial carcinoma;HP:0012114			False	3	100;0;0	1.1	True		ENSG00000119888	ENSG00000119888	HGNC:11529													
MLH1	gene	MLH1	Expert list;Expert Review;Expert Review Green	Endometrial Cancer		Cancer Predisposition	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Endometrial cancer, MONDO:0011962;Lynch syndrome 2, MONDO:0012249;Mismatch repair cancer syndrome 1, MONDO:0010159;Lynch syndrome 2, MIM#609310;Mismatch repair cancer syndrome 1, MIM#276300			Endometrial carcinoma;HP:0012114			False	3	100;0;0	1.1	True		ENSG00000076242	ENSG00000076242	HGNC:7127													
MSH2	gene	MSH2	Expert list;Expert Review;Expert Review Green	Endometrial Cancer		Cancer Predisposition	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Endometrial cancer, MONDO:0011962;Lynch syndrome 1, MONDO:0007356;Mismatch repair cancer syndrome 2, MONDO:0030840;Lynch syndrome 1, MIM#120435;Mismatch repair cancer syndrome 2, MIM#619096			Endometrial carcinoma;HP:0012114			False	3	100;0;0	1.1	True		ENSG00000095002	ENSG00000095002	HGNC:7325													
MSH6	gene	MSH6	Expert list;Expert Review;Expert Review Green	Endometrial Cancer		Cancer Predisposition	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Endometrial cancer, MONDO:0011962;Lynch syndrome 5, MONDO:0013710;Mismatch repair cancer syndrome 3, MONDO:0030841;Lynch syndrome 5, MIM#614350;Mismatch repair cancer syndrome 3, MIM#619097			Endometrial carcinoma;HP:0012114			False	3	100;0;0	1.1	True		ENSG00000116062	ENSG00000116062	HGNC:7329													
PMS2	gene	PMS2	Expert list;Expert Review;Expert Review Green	Endometrial Cancer		Cancer Predisposition	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Endometrial cancer, MONDO:0011962;Lynch syndrome 4, MONDO:0013699;Mismatch repair cancer syndrome 4, MONDO:0030843;Lynch syndrome 4, MIM#614337;Mismatch repair cancer syndrome 4, MIM#619101			Endometrial carcinoma;HP:0012114			False	3	100;0;0	1.1	True		ENSG00000122512	ENSG00000122512	HGNC:9122													
POLD1	gene	POLD1	Expert list;Expert Review;Expert Review Green	Endometrial Cancer		Cancer Predisposition	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Endometrial cancer, MONDO:0011962;POLD1-related polyposis and colorectal cancer syndrome, MONDO:0100351;POLD1-associated polyposis, MIM#612591			Endometrial carcinoma;HP:0012114			False	3	100;0;0	1.1	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000062822	ENSG00000062822	HGNC:9175													
POLE	gene	POLE	Expert list;Expert Review;Expert Review Green	Endometrial Cancer		Cancer Predisposition	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Endometrial cancer, MONDO:0011962;POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287;POLE-associated polyposis, MIM#615083			Endometrial carcinoma;HP:0012114			False	3	100;0;0	1.1	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000177084	ENSG00000177084	HGNC:9177													
PTEN	gene	PTEN	Expert list;Expert Review;Expert Review Green	Endometrial Cancer		Cancer Predisposition	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Endometrial cancer, MONDO:0011962;PTEN hamartoma tumor syndrome, MONDO:0017623;PTEN hamartoma tumour syndromes, MIM#158350			Endometrial carcinoma;HP:0012114			False	3	100;0;0	1.1	True		ENSG00000171862	ENSG00000171862	HGNC:9588													
TP53	gene	TP53	Expert list;Expert Review;Expert Review Green	Endometrial Cancer		Cancer Predisposition	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Endometrial cancer, MONDO:0011962;Li-Fraumeni syndrome, MONDO:0018875;Li-Fraumeni syndrome, MIM#151623			Endometrial carcinoma;HP:0012114			False	3	100;0;0	1.1	True		ENSG00000141510	ENSG00000141510	HGNC:11998