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
C16orf62	gene	C16orf62	Expert Review Amber;Literature	Ocular coloboma	Ocular malformations	Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	3C/Ritscher-Schinzel-like syndrome				31712251		False	2	0;100;0	1.51	False		ENSG00000103544	ENSG00000103544	HGNC:24641													
IGBP1	gene	IGBP1	Emory Genetics Laboratory;Literature;Radboud University Medical Center, Nijmegen	Ocular coloboma	Ocular malformations	Ophthalmological disorders		Corpus callosum, agenesis of, with mental retardation, ocular coloboma andmicrognathia, 300472						False	2	0;0;100	1.51	False		ENSG00000089289	ENSG00000089289	HGNC:5461													
MAF	gene	MAF	Literature;Radboud University Medical Center, Nijmegen;UKGTN	Ocular coloboma	Ocular malformations	Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cataract 21, multiple types  610202  				11772997		False	2	100;0;0	1.51	False		ENSG00000178573	ENSG00000178573	HGNC:6776													
PIGL	gene	PIGL	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Ocular coloboma	Ocular malformations	Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome;CHIME syndrome, 280000				22444671		False	2	0;100;0	1.51	False		ENSG00000108474	ENSG00000108474	HGNC:8966													
RBP4	gene	RBP4	Emory Genetics Laboratory;Literature;Radboud University Medical Center, Nijmegen	Ocular coloboma	Ocular malformations	Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome,  615147  				9888420		False	2	0;0;100	1.51	False		ENSG00000138207	ENSG00000138207	HGNC:9922													
SIX6	gene	SIX6	Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen	Ocular coloboma	Ocular malformations	Ophthalmological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Optic disc anomalies with retinal and/or macular dystrophy,  212550  				23167593, 24702266		False	2	0;0;100	1.51	False		ENSG00000184302	ENSG00000184302	HGNC:10892