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
COA4	gene	COA4	Expert Review Red;NHS GMS	Mitochondrial disorder with complex IV deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	1	50;50;0	4.14	True		ENSG00000181924	ENSG00000181924	HGNC:24604													
COX17	gene	COX17	Expert Review Red;NHS GMS	Mitochondrial disorder with complex IV deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	1	50;50;0	4.14	True		ENSG00000138495	ENSG00000138495	HGNC:2264													
COX19	gene	COX19	Expert Review Red;NHS GMS	Mitochondrial disorder with complex IV deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	1	50;50;0	4.14	True		ENSG00000240230	ENSG00000240230	HGNC:28074													
COX6B2	gene	COX6B2	Expert Review Red;NHS GMS	Mitochondrial disorder with complex IV deficiency		Mitochondrial	Unknown	No OMIM phenotype						False	1	50;50;0	4.14	True		ENSG00000160471	ENSG00000160471	HGNC:24380													
FASTKD2	gene	FASTKD2	Expert Review Red;NHS GMS	Mitochondrial disorder with complex IV deficiency		Mitochondrial	BIALLELIC, autosomal or pseudoautosomal	Combined oxidative phosphorylation deficiency 44, OMIM:618855				28499982;31944455		False	1	60;0;40	4.14	False		ENSG00000118246	ENSG00000118246	HGNC:29160