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
APOH	gene	APOH	Other	Inherited bleeding disorders	Haemostasis disorders	Haematological and immunological disorders		risk of thrombosis; antiphospholipid syndrome				10446865		False	1	0;0;0	1.182	False		ENSG00000091583	ENSG00000091583	HGNC:616													
COL2A1	gene	COL2A1	Other	Inherited bleeding disorders	Haemostasis disorders	Haematological and immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Avascular necrosis of the femoral head; feature of hereditary thrombophilia;  Legg-Calve-Perthes disease						False	1	0;0;0	1.182	False		ENSG00000139219	ENSG00000139219	HGNC:2200													
HABP2	gene	HABP2	Illumina TruGenome Clinical Sequencing Services	Inherited bleeding disorders	Haemostasis disorders	Haematological and immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Venous thromboembolism, susceptibility to 188050; Factor VII Marburg I Variant Thrombophilia						False	1	0;0;0	1.182	False		ENSG00000148702	ENSG00000148702	HGNC:4798													
IFNAR2	gene	IFNAR2	Other	Inherited bleeding disorders	Haemostasis disorders	Haematological and immunological disorders	Unknown							False	1	0;0;0	1.182	False		ENSG00000159110	ENSG00000159110	HGNC:5433													
LPA	gene	LPA	Other	Inherited bleeding disorders	Haemostasis disorders	Haematological and immunological disorders		thromboembolism; elevated serum Lp(a) levels; childhood thrombosis associated with raised Lp(a) levels				11698280; 9164807		False	1	0;0;0	1.182	False		ENSG00000198670	ENSG00000198670	HGNC:6667													
MTHFR	gene	MTHFR	Radboud University Medical Center, Nijmegen	Inherited bleeding disorders	Haemostasis disorders	Haematological and immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thromboembolism, susceptibility to 188050						False	1	0;0;0	1.182	False		ENSG00000177000	ENSG00000177000	HGNC:7436													
PIGA	gene	PIGA	Expert list;Expert Review Red	Inherited bleeding disorders	Haemostasis disorders	Haematological and immunological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Paroxysmal nocturnal haemoglobinuria, somatic, 300818				8557259;8500164		False	1	0;100;0	1.182	False		ENSG00000165195	ENSG00000165195	HGNC:8957													
PLG	gene	PLG	BRIDGE Study Tier 1 Gene;Eligibility statement prior genetic testing;Expert Review Red	Inherited bleeding disorders	Haemostasis disorders	Haematological and immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Plasminogen deficiency, type I, OMIM:217090;Dysplasminogenemia, OMIM:217090				9684804;12850227;16849641;27976734;35244080		False	1	100;0;0	1.182	False		ENSG00000122194	ENSG00000122194	HGNC:9071													
PROCR	gene	PROCR	Other	Inherited bleeding disorders	Haemostasis disorders	Haematological and immunological disorders		thrombosis						False	1	0;0;0	1.182	False		ENSG00000101000	ENSG00000101000	HGNC:9452													
PROZ	gene	PROZ	Other	Inherited bleeding disorders	Haemostasis disorders	Haematological and immunological disorders		Protein Z deficiency; thromboembolic complication during pregnancy				15638861		False	1	0;0;0	1.182	False		ENSG00000126231	ENSG00000126231	HGNC:9460													
SERPINA10	gene	SERPINA10	Other	Inherited bleeding disorders	Haemostasis disorders	Haematological and immunological disorders		ZPI deficiency; thrombophilia				15461625; 10829076		False	1	0;0;0	1.182	False		ENSG00000140093	ENSG00000140093	HGNC:15996													
TFPI	gene	TFPI	Other	Inherited bleeding disorders	Haemostasis disorders	Haematological and immunological disorders		?thrombophilia 				9867356		False	1	0;0;0	1.182	False		ENSG00000003436	ENSG00000003436	HGNC:11760													
