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
ISCA-37448-Loss	region	NIPA1	ClinGen	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Chromosome 15q11.2 deletion syndrome, MIM#615656						False	1	100;0;0	0.158	False		ENSG00000170113	ENSG00000170113	HGNC:17043	15			22782170	23040134				3	40	80	cnv_loss	Chromosome 15q11.2 deletion syndrome, MIM#615656
ISCA-37494-Loss	region	RAB39B	ClinGen	Common deletion and duplication syndromes			X-LINKED: hemizygous mutation in males, biallelic mutations in females					PMID: 25927380, 21984752		False	1	100;0;0	0.158	False		ENSG00000155961	ENSG00000155961	HGNC:16499	X			154890328	155335092				3		80	cnv_loss	Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Loss
ISCA-37498-Loss	region	SHANK2	ClinGen	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	11q13.2q13.4 deletion syndrome						False	1	100;0;0	0.158	False		ENSG00000162105	ENSG00000162105	HGNC:14295	11			67996175	71525885				3	0	80	cnv_loss	11q13.2q13.4 recurrent region
ISCA-46296-Loss	region		ClinGen	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted					PMID: 25217958		False	1	0;0;0	0.158	False					15			72671374	75215971				3		80	cnv_loss	15q24 recurrent deletion (LCR A- LCR C)
ISCA-46300-Loss	region	SIN3A	ClinGen	Common deletion and duplication syndromes			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Chromosome 15q24 deletion syndrome, MONDO:0013256						False	1	100;0;0	0.158	False		ENSG00000169375	ENSG00000169375	HGNC:19353	15			75339446	75680568				3	0	80	cnv_loss	Chromosome 15q24 deletion syndrome distal
ISCA-46302-Gain	region	NR0B1	ClinGen	Common deletion and duplication syndromes			X-LINKED: hemizygous mutation in males, biallelic mutations in females	46,XY sex reversal 2, MONDO:0010226						False	1	100;0;0	0.158	False		ENSG00000169297	ENSG00000169297	HGNC:7960	X			30176883	30336883				0	3	80	cnv_gain	Xp21.2 duplication syndrome