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
HNRNPA1	gene	HNRNPA1	Expert Review Amber;Other	Distal myopathies		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Myopathy, distal, 3 , OMIM:610099;distal myopathy, MONDO:0018949				34291734;34722876;39072769		False	2	100;0;0	6.18	False		ENSG00000135486	ENSG00000135486	HGNC:5031													
LRIF1	gene	LRIF1	Expert Review Amber;Literature	Distal myopathies		Neurology	BIALLELIC, autosomal or pseudoautosomal	Facioscapulohumeral muscular dystrophy				32467133		False	2	0;100;0	6.18	False		ENSG00000121931	ENSG00000121931	HGNC:30299													
SPTAN1	gene	SPTAN1	Expert Review Amber;Literature	Distal myopathies		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	distal myopathy, MONDO:0018949				40023774;40999194		False	2	100;0;0	6.18	False		ENSG00000197694	ENSG00000197694	HGNC:11273													
