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
CSF3R	gene	CSF3R	Expert Review Red;Literature	Haematological malignancies		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hereditary neutrophilia;Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014;Acute myeloid leukaemia			Hematological neoplasm;HP:0004377	19620628;24753537;26324699;12203110		False	1	0;0;0	0.147	False		ENSG00000119535	ENSG00000119535	HGNC:2439													
MAD2L2	gene	MAD2L2	Curated sources;Expert list;Expert Review Red	Haematological malignancies		Cancer susceptibility	BIALLELIC, autosomal or pseudoautosomal	MDS;Fanconi anemia;AML;Squamous cell carcinoma: oral, GI, vulvar;Class: BM failure FA, (typ AR)			Hematological neoplasm;HP:0004377	28297620		False	1	0;0;100	0.147	True		ENSG00000116670	ENSG00000116670	HGNC:6764													
NRAS	gene	NRAS	Other	Haematological malignancies		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 6, MIM# 613224			Hematological neoplasm;HP:0004377	23250860		False	1	0;0;100	0.147	False		ENSG00000213281	ENSG00000213281	HGNC:7989													
RPL23	gene	RPL23	Curated sources;Expert Review Red	Haematological malignancies		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Osteosarcoma, soft tissue sarcomas;Diamond Blackfan Anemia;MDS, AML;Class: BM failure syndrome (typ AR)			Hematological neoplasm;HP:0004377	28297620		False	1	0;0;100	0.147	True		ENSG00000125691	ENSG00000125691	HGNC:10316													
RPL26	gene	RPL26	Curated sources;Expert Review Red;Victorian Clinical Genetics Services	Haematological malignancies		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Osteosarcoma, soft tissue sarcomas;Diamond Blackfan Anemia;MDS, AML;Class: BM failure syndrome (typ AR)			Hematological neoplasm;HP:0004377	28297620;39268718		False	1	33;0;67	0.147	True		ENSG00000161970	ENSG00000161970	HGNC:10327													
RPL35	gene	RPL35	Expert list;Expert Review Red	Haematological malignancies		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 19, MIM# 618312			Hematological neoplasm;HP:0004377	28280134		False	1	0;0;100	0.147	False		ENSG00000136942	ENSG00000136942	HGNC:10344													
RPS15	gene	RPS15	Curated sources;Expert Review;Expert Review Red;NHS GMS	Haematological malignancies		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Chronic lymphocytic leukemia;Diamond-Blackfan anemia			Hematological neoplasm;HP:0004377	26675346;34251413;28297620;19061985;30181176;26466571		False	1	0;0;100	0.147	False		ENSG00000115268	ENSG00000115268	HGNC:10388													
RPS15A	gene	RPS15A	Expert list;Expert Review Red	Haematological malignancies		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Diamond-Blackfan anemia 20, MIM# 618313			Hematological neoplasm;HP:0004377	27909223		False	1	0;0;100	0.147	False		ENSG00000134419	ENSG00000134419	HGNC:10389													
RPS27	gene	RPS27	Curated sources;Expert Review Red;Victorian Clinical Genetics Services	Haematological malignancies		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Class: BM failure syndrome (typ AR);Osteosarcoma, soft tissue sarcomas;MDS, AML;?Diamond-Blackfan anemia 17, OMIM:617409			Hematological neoplasm;HP:0004377	28297620		False	1	0;0;100	0.147	True		ENSG00000177954	ENSG00000177954	HGNC:10416													
RPS27A	gene	RPS27A	Curated sources;Expert Review Red	Haematological malignancies		Cancer susceptibility	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Osteosarcoma, soft tissue sarcomas;Diamond Blackfan Anemia;MDS, AML;Class: BM failure syndrome (typ AR)			Hematological neoplasm;HP:0004377	28297620;24680683;26942564		False	1	0;0;100	0.147	True		ENSG00000143947	ENSG00000143947	HGNC:10417													
TSR2	gene	TSR2	Curated sources;Expert Review Red;NHS GMS;Victorian Clinical Genetics Services	Haematological malignancies		Cancer susceptibility	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946			Hematological neoplasm;HP:0004377	28297620;24942156		False	1	0;0;100	0.147	False		ENSG00000158526	ENSG00000158526	HGNC:25455													
UBA2	gene	UBA2	Expert Review Red;Literature	Haematological malignancies		Cancer susceptibility	Other	acute lymphoblastic leukemia			Hematological neoplasm;HP:0004377	34982829		False	1	0;0;0	0.147	False		ENSG00000126261	ENSG00000126261	HGNC:30661													
UNC13D	gene	UNC13D	Expert list;Expert Review Red;Literature	Haematological malignancies		Cancer susceptibility	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	increased susceptibility to malignancy;predisposition to childhood anaplastic large cell lymphoma;Increased risk of lymphoma;predisposition to leukemia			Hematological neoplasm;HP:0004377	24309606;24827398;21370424;30758854		False	1	0;0;100	0.147	True		ENSG00000092929	ENSG00000092929	HGNC:23147