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
ABCC9	gene	ABCC9	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Coarse facial features including Coffin-Siris-like disorders	Other dysmorphic syndromes	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypertrichotic osteochondrodysplasia  239850  				22610116, 22608503		False	3	100;0;0	0.58	True		ENSG00000069431	ENSG00000069431	HGNC:60													
AFF4	gene	AFF4	Expert Review Green;Literature	Coarse facial features including Coffin-Siris-like disorders	Other dysmorphic syndromes	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CHOPS syndrome  616368						False	3	100;0;0	0.58	True		ENSG00000072364	ENSG00000072364	HGNC:17869													
ARID1A	gene	ARID1A	Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen	Coarse facial features including Coffin-Siris-like disorders	Other dysmorphic syndromes	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coffin-Siris syndrome 2						False	3	100;0;0	0.58	True		ENSG00000117713	ENSG00000117713	HGNC:11110													
ARID1B	gene	ARID1B	Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen	Coarse facial features including Coffin-Siris-like disorders	Other dysmorphic syndromes	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	intellectual disability; coffin-siris syndrome;Coffin-Siris syndrome 1						False	3	100;0;0	0.58	True		ENSG00000049618	ENSG00000049618	HGNC:18040													
PHF6	gene	PHF6	Expert list;Expert Review Green	Coarse facial features including Coffin-Siris-like disorders	Other dysmorphic syndromes	Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	intellectual disability;dysmorphism;Coffin-Siris-like disorder				25099957;24092917		False	3	100;0;0	0.58	True		ENSG00000156531	ENSG00000156531	HGNC:18145													
SMARCA2	gene	SMARCA2	Expert list;Expert Review Green	Coarse facial features including Coffin-Siris-like disorders	Other dysmorphic syndromes	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted							False	3	100;0;0	0.58	True		ENSG00000080503	ENSG00000080503	HGNC:11098													
SMARCA4	gene	SMARCA4	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Coarse facial features including Coffin-Siris-like disorders	Other dysmorphic syndromes	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Coffin-Siris syndrome 4;Coffin-Siris Syndrome						False	3	100;0;0	0.58	True		ENSG00000127616	ENSG00000127616	HGNC:11100													
SMARCB1	gene	SMARCB1	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Coarse facial features including Coffin-Siris-like disorders	Other dysmorphic syndromes	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Coffin-Siris syndrome 3;Coffin-Siris Syndrome						False	3	100;0;0	0.58	True		ENSG00000099956	ENSG00000099956	HGNC:11103													
SMARCE1	gene	SMARCE1	Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen	Coarse facial features including Coffin-Siris-like disorders	Other dysmorphic syndromes	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Coffin-Siris syndrome 5						False	3	100;0;0	0.58	True		ENSG00000073584	ENSG00000073584	HGNC:11109													
SOX11	gene	SOX11	Expert Review Green;Literature	Coarse facial features including Coffin-Siris-like disorders	Other dysmorphic syndromes	Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	coffin-siris syndrome				http://www.ncbi.nlm.nih.gov/pubmed/?term=mcneill+sox11		False	3	100;0;0	0.58	True		ENSG00000176887	ENSG00000176887	HGNC:11191