CR2Cancer

Summary
Symbol	IDH2
Name	isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
Aliases	D2HGA2; ICD-M; IDHM; IDPM; mNADP-IDH; Isocitrate dehydrogenase [NADP], mitochondrial
Location	15q26.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Domain, Function and Classification > Gene Ontology > KEGG and Reactome Pathway

> Domain, Function and Classification

[ TOP ]

Domain

PF00180 Isocitrate/isopropylmalate dehydrogenase

Function

Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex.

Classification

Class	Modification	Substrate	Product	PubMed
#	#	#	#	#

> Gene Ontology [ TOP ]
Biological Process	GO:0006091 generation of precursor metabolites and energy GO:0006097 glyoxylate cycle GO:0006099 tricarboxylic acid cycle GO:0006102 isocitrate metabolic process GO:0006103 2-oxoglutarate metabolic process GO:0009060 aerobic respiration GO:0015980 energy derivation by oxidation of organic compounds GO:0043648 dicarboxylic acid metabolic process GO:0044262 cellular carbohydrate metabolic process GO:0044723 single-organism carbohydrate metabolic process GO:0045333 cellular respiration GO:0046487 glyoxylate metabolic process GO:0072350 tricarboxylic acid metabolic process
Molecular Function	GO:0000287 magnesium ion binding GO:0004448 isocitrate dehydrogenase activity GO:0004450 isocitrate dehydrogenase (NADP+) activity GO:0016614 oxidoreductase activity, acting on CH-OH group of donors GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0048037 cofactor binding GO:0050662 coenzyme binding GO:0051287 NAD binding
Cellular Component	GO:0005743 mitochondrial inner membrane GO:0005759 mitochondrial matrix GO:0005777 peroxisome GO:0042579 microbody

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa04146 Peroxisome hsa00020 Citrate cycle (TCA cycle) hsa00480 Glutathione metabolism hsa01100 Metabolic pathways hsa01200 Carbon metabolism hsa01210 2-Oxocarboxylic acid metabolism hsa01230 Biosynthesis of amino acids
Reactome	R-HSA-71403: Citric acid cycle (TCA cycle) R-HSA-1430728: Metabolism R-HSA-71406: Pyruvate metabolism and Citric Acid (TCA) cycle R-HSA-1428517: The citric acid (TCA) cycle and respiratory electron transport

Summary
Symbol	IDH2
Name	isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
Aliases	D2HGA2; ICD-M; IDHM; IDPM; mNADP-IDH; Isocitrate dehydrogenase [NADP], mitochondrial
Location	15q26.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Mutation landscape in primary tumor tissue from TCGA > Mutation landscape in cancer cell line from CCLE > All mutations from COSMIC database V81 > Variations from text mining

> The Cancer Genome Atlas (TCGA) [ TOP ]

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]

> Catalogue of Somatic Mutations in Cancer (COSMIC)

[ TOP ]

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41877	c.418C>T	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4506463	c.720C>T	p.I240I	Substitution - coding silent	Skin
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4925898	c.1084C>T	p.R362W	Substitution - Missense	Liver
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4385675	c.428_429insG	p.T146fs*126	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Biliary_tract
COSM131566	c.?	p.R172G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM223811	c.731G>A	p.W244*	Substitution - Nonsense	Skin
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM33731	c.514A>G	p.R172G	Substitution - Missense	Kidney
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53311	c.?	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33731	c.514A>G	p.R172G	Substitution - Missense	Biliary_tract
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Central_nervous_system
COSM144496	c.?	p.R172S	Substitution - Missense	Central_nervous_system
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Central_nervous_system
COSM52947	c.?	p.R172?	Substitution - Missense	Bone
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41875	c.419G>T	p.R140L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5574262	c.?	p.G176D	Substitution - Missense	Bone
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM41296	c.?	p.R172W	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Central_nervous_system
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4990809	c.148G>A	p.V50M	Substitution - Missense	Skin
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM33731	c.514A>G	p.R172G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Biliary_tract
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4514509	c.977C>T	p.S326F	Substitution - Missense	Skin
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Liver
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM379071	c.562C>T	p.R188W	Substitution - Missense	Lung
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Central_nervous_system
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM97048	c.?	p.R140?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133169	c.?	p.D177A	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Prostate
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM34039	c.514A>T	p.R172W	Substitution - Missense	Central_nervous_system
COSM3999682	c.517C>G	p.H173D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Bone
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5384104	c.1249G>A	p.G417S	Substitution - Missense	Skin
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34039	c.514A>T	p.R172W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34039	c.514A>T	p.R172W	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM86077	c.?	p.R172M	Substitution - Missense	Central_nervous_system
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM34039	c.514A>T	p.R172W	Substitution - Missense	Liver
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1636997	c.515G>C	p.R172T	Substitution - Missense	Bone
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM144496	c.?	p.R172S	Substitution - Missense	Central_nervous_system
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41877	c.418C>T	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Biliary_tract
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41875	c.419G>T	p.R140L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144496	c.?	p.R172S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM97048	c.?	p.R140?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4619428	c.636C>T	p.F212F	Substitution - coding silent	Large_intestine
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM97048	c.?	p.R140?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34039	c.514A>T	p.R172W	Substitution - Missense	Central_nervous_system
COSM1636997	c.515G>C	p.R172T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM131566	c.?	p.R172G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Bone
COSM34039	c.514A>T	p.R172W	Substitution - Missense	Biliary_tract
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM5417541	c.?_?insC	p.?fs*?	Unknown	Endometrium
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM34039	c.514A>T	p.R172W	Substitution - Missense	Biliary_tract
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144496	c.?	p.R172S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34039	c.514A>T	p.R172W	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1737874	c.418C>G	p.R140G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41877	c.418C>T	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM34039	c.514A>T	p.R172W	Substitution - Missense	Biliary_tract
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384862	c.475C>G	p.R159G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5740454	c.761T>C	p.I254T	Substitution - Missense	Small_intestine
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Bone
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Breast
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Biliary_tract
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2139728	c.1129C>T	p.R377C	Substitution - Missense	Large_intestine
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1749373	c.622G>T	p.E208*	Substitution - Nonsense	Urinary_tract
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53311	c.?	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM97048	c.?	p.R140?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1737874	c.418C>G	p.R140G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5778128	c.136G>A	p.V46M	Substitution - Missense	Breast
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1375397	c.829G>A	p.D277N	Substitution - Missense	Large_intestine
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41875	c.419G>T	p.R140L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133672	c.516G>C	p.R172S	Substitution - Missense	Bone
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM3355752	c.429G>C	p.L143L	Substitution - coding silent	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5885267	c.515_516GG>AA	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3988210	c.207+2T>C	p.?	Unknown	Kidney
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Biliary_tract
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM131566	c.?	p.R172G	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM41875	c.419G>T	p.R140L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1749374	c.144G>T	p.K48N	Substitution - Missense	Urinary_tract
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM966441	c.804G>T	p.E268D	Substitution - Missense	Endometrium
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34039	c.514A>T	p.R172W	Substitution - Missense	Biliary_tract
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41877	c.418C>T	p.R140W	Substitution - Missense	Large_intestine
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM131566	c.?	p.R172G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4777517	c.1256T>C	p.I419T	Substitution - Missense	Liver
COSM144497	c.?	p.R172T	Substitution - Missense	Soft_tissue
COSM5557399	c.181A>G	p.I61V	Substitution - Missense	Prostate
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4578611	c.1156G>C	p.D386H	Substitution - Missense	Bone
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM86077	c.?	p.R172M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41296	c.?	p.R172W	Substitution - Missense	Biliary_tract
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Biliary_tract
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53311	c.?	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM5945312	c.518A>T	p.H173L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3957058	c.526G>T	p.G176C	Substitution - Missense	Lung
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41877	c.418C>T	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM34039	c.514A>T	p.R172W	Substitution - Missense	Biliary_tract
COSM4767390	c.?	p.A416fs*?	Frameshift	Large_intestine
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133672	c.516G>C	p.R172S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4422879	c.23T>C	p.V8A	Substitution - Missense	Kidney
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41296	c.?	p.R172W	Substitution - Missense	Biliary_tract
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Bone
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1493548	c.641C>T	p.A214V	Substitution - Missense	Kidney
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM133672	c.516G>C	p.R172S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Biliary_tract
COSM41875	c.419G>T	p.R140L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM966442	c.682A>C	p.I228L	Substitution - Missense	Endometrium
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53311	c.?	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53310	c.?	p.R140L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3420710	c.1261G>A	p.G421S	Substitution - Missense	Large_intestine
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3665108	c.81A>T	p.T27T	Substitution - coding silent	Oesophagus
COSM41877	c.418C>T	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144496	c.?	p.R172S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41877	c.418C>T	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Soft_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144496	c.?	p.R172S	Substitution - Missense	Soft_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM966444	c.248A>T	p.D83V	Substitution - Missense	Endometrium
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM33731	c.514A>G	p.R172G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Bone
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM1636997	c.515G>C	p.R172T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53311	c.?	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1749374	c.144G>T	p.K48N	Substitution - Missense	Urinary_tract
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM97048	c.?	p.R140?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM340426	c.745A>G	p.S249G	Substitution - Missense	Lung
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53311	c.?	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Central_nervous_system
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3420710	c.1261G>A	p.G421S	Substitution - Missense	Ovary
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34039	c.514A>T	p.R172W	Substitution - Missense	Biliary_tract
COSM4990809	c.148G>A	p.V50M	Substitution - Missense	Kidney
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Central_nervous_system
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM133672	c.516G>C	p.R172S	Substitution - Missense	Bone
COSM133672	c.516G>C	p.R172S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM3377698	c.696G>A	p.A232A	Substitution - coding silent	Pancreas
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Bone
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Bone
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Biliary_tract
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Bone
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4883838	c.649G>T	p.V217L	Substitution - Missense	Upper_aerodigestive_tract
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM6001688	c.184A>G	p.I62V	Substitution - Missense	Prostate
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53311	c.?	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4612047	c.435_436insG	p.T146fs*126	Insertion - Frameshift	Large_intestine
COSM86077	c.?	p.R172M	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM133672	c.516G>C	p.R172S	Substitution - Missense	Bone
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Central_nervous_system
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM966440	c.1108G>A	p.A370T	Substitution - Missense	Endometrium
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41875	c.419G>T	p.R140L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5054592	c.945G>A	p.V315V	Substitution - coding silent	Stomach
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4652657	c.1086G>A	p.R362R	Substitution - coding silent	Large_intestine
COSM4803661	c.467A>G	p.N156S	Substitution - Missense	Liver
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Central_nervous_system
COSM53311	c.?	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM86077	c.?	p.R172M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM86960	c.512G>A	p.G171D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133672	c.516G>C	p.R172S	Substitution - Missense	Bone
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Soft_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM97048	c.?	p.R140?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41875	c.419G>T	p.R140L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4803661	c.467A>G	p.N156S	Substitution - Missense	Liver
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM97048	c.?	p.R140?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41877	c.418C>T	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4300420	c.386A>G	p.K129R	Substitution - Missense	Central_nervous_system
COSM131566	c.?	p.R172G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1737874	c.418C>G	p.R140G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM33731	c.514A>G	p.R172G	Substitution - Missense	Liver
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Bone
COSM144496	c.?	p.R172S	Substitution - Missense	Biliary_tract
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133672	c.516G>C	p.R172S	Substitution - Missense	Bone
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41877	c.418C>T	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM1375403	c.435delG	p.T146fs*15	Deletion - Frameshift	Stomach
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Bone
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34039	c.514A>T	p.R172W	Substitution - Missense	Central_nervous_system
COSM966443	c.476G>A	p.R159H	Substitution - Missense	Endometrium
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Biliary_tract
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM96477	c.?	p.R140G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1235293	c.?	p.I168I	Substitution - coding silent	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1375398	c.560A>T	p.D187V	Substitution - Missense	Large_intestine
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5650061	c.1065_1066insA	p.R356fs*>98	Insertion - Frameshift	Oesophagus
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33731	c.514A>G	p.R172G	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM33731	c.514A>G	p.R172G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM5751175	c.445_446insC	p.R149fs*123	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1651582	c.?	p.P167S	Substitution - Missense	Soft_tissue
COSM966439	c.1206C>T	p.C402C	Substitution - coding silent	Endometrium
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5445517	c.645C>A	p.G215G	Substitution - coding silent	Oesophagus
COSM5991573	c.409G>A	p.G137R	Substitution - Missense	Skin
COSM144496	c.?	p.R172S	Substitution - Missense	Bone
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM86077	c.?	p.R172M	Substitution - Missense	Central_nervous_system
COSM4472550	c.178C>T	p.R60C	Substitution - Missense	Skin
COSM5784561	c.1325A>G	p.K442R	Substitution - Missense	Breast
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5417540	c.118G>T	p.A40S	Substitution - Missense	Endometrium
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM86960	c.512G>A	p.G171D	Substitution - Missense	Skin
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41296	c.?	p.R172W	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM144497	c.?	p.R172T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1375403	c.435delG	p.T146fs*15	Deletion - Frameshift	Prostate
COSM4777517	c.1256T>C	p.I419T	Substitution - Missense	Breast
COSM41877	c.418C>T	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53310	c.?	p.R140L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Central_nervous_system
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4802448	c.809T>C	p.F270S	Substitution - Missense	Liver
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Bone
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34039	c.514A>T	p.R172W	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Bone
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1658762	c.1054A>C	p.T352P	Substitution - Missense	Breast
COSM4767390	c.?	p.A416fs*?	Frameshift	Large_intestine
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144496	c.?	p.R172S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5991574	c.433G>A	p.G145R	Substitution - Missense	Skin
COSM5384105	c.163G>A	p.G55S	Substitution - Missense	Skin
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM5043002	c.189G>A	p.W63*	Substitution - Nonsense	Liver
COSM4169399	c.?	p.G144R	Substitution - Missense	Skin
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Biliary_tract
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34039	c.514A>T	p.R172W	Substitution - Missense	Liver
COSM2139728	c.1129C>T	p.R377C	Substitution - Missense	Large_intestine
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4691742	c.1324A>G	p.K442E	Substitution - Missense	Large_intestine
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1737874	c.418C>G	p.R140G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Biliary_tract
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41296	c.?	p.R172W	Substitution - Missense	Biliary_tract
COSM52947	c.?	p.R172?	Substitution - Missense	Bone
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Bone
COSM1749373	c.622G>T	p.E208*	Substitution - Nonsense	Urinary_tract
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM133672	c.516G>C	p.R172S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM97048	c.?	p.R140?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4774901	c.488G>A	p.G163D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144496	c.?	p.R172S	Substitution - Missense	Central_nervous_system
COSM53310	c.?	p.R140L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5436639	c.583G>A	p.V195I	Substitution - Missense	Oesophagus
COSM53311	c.?	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Biliary_tract
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM269346	c.1322T>C	p.I441T	Substitution - Missense	Large_intestine
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM97048	c.?	p.R140?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM86959	c.472C>A	p.P158T	Substitution - Missense	Skin
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Bone
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM33731	c.514A>G	p.R172G	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41875	c.419G>T	p.R140L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4802448	c.809T>C	p.F270S	Substitution - Missense	Liver
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3505366	c.410G>A	p.G137E	Substitution - Missense	Skin
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1375401	c.473C>T	p.P158L	Substitution - Missense	Central_nervous_system
COSM1629738	c.154G>T	p.E52*	Substitution - Nonsense	Liver
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1638389	c.514A>C	p.R172R	Substitution - coding silent	Bone
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM256046	c.515_516GG>AT	p.R172N	Substitution - Missense	Biliary_tract
COSM5715080	c.535-8C>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Biliary_tract
COSM34039	c.514A>T	p.R172W	Substitution - Missense	Biliary_tract
COSM4634034	c.963C>A	p.A321A	Substitution - coding silent	Large_intestine
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Bone
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM34039	c.514A>T	p.R172W	Substitution - Missense	Central_nervous_system
COSM133672	c.516G>C	p.R172S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Biliary_tract
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM6001592	c.828C>T	p.T276T	Substitution - coding silent	Prostate
COSM41877	c.418C>T	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34039	c.514A>T	p.R172W	Substitution - Missense	Biliary_tract
COSM1736930	c.484C>T	p.P162S	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM271310	c.140C>T	p.A47V	Substitution - Missense	Large_intestine
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41877	c.418C>T	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41875	c.419G>T	p.R140L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1736930	c.484C>T	p.P162S	Substitution - Missense	Central_nervous_system
COSM4128570	c.996C>T	p.S332S	Substitution - coding silent	Thyroid
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33731	c.514A>G	p.R172G	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM97048	c.?	p.R140?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM33731	c.514A>G	p.R172G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Central_nervous_system
COSM52947	c.?	p.R172?	Substitution - Missense	Central_nervous_system
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM97048	c.?	p.R140?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM144497	c.?	p.R172T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53311	c.?	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Bone
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM96477	c.?	p.R140G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41877	c.418C>T	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1236441	c.1127C>A	p.T376K	Substitution - Missense	Autonomic_ganglia
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5750057	c.1214C>T	p.T405M	Substitution - Missense	Stomach
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4384860	c.1354C>T	p.Q452*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Biliary_tract
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Biliary_tract
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5929583	c.253G>A	p.G85R	Substitution - Missense	Skin
COSM5929582	c.254G>A	p.G85E	Substitution - Missense	Skin
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4767390	c.?	p.A416fs*?	Frameshift	Large_intestine
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Urinary_tract
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Biliary_tract
COSM41875	c.419G>T	p.R140L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133672	c.516G>C	p.R172S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1629739	c.153G>T	p.V51V	Substitution - coding silent	Liver
COSM5609104	c.523C>T	p.H175Y	Substitution - Missense	Skin
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4057844	c.1124G>A	p.W375*	Substitution - Nonsense	Stomach
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM97048	c.?	p.R140?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133672	c.516G>C	p.R172S	Substitution - Missense	Liver
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM2139738	c.528C>T	p.G176G	Substitution - coding silent	Large_intestine
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM227366	c.415A>T	p.I139F	Substitution - Missense	Skin
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM5751937	c.222_223insA	p.V75fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM131566	c.?	p.R172G	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144496	c.?	p.R172S	Substitution - Missense	Central_nervous_system
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM86960	c.512G>A	p.G171D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4128570	c.996C>T	p.S332S	Substitution - coding silent	Soft_tissue
COSM41296	c.?	p.R172W	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Bone
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Biliary_tract
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM268311	c.950C>G	p.S317*	Substitution - Nonsense	Large_intestine
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM523140	c.?	p.R172L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53310	c.?	p.R140L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1736930	c.484C>T	p.P162S	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Biliary_tract
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5985374	c.568G>A	p.G190S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2139737	c.569G>A	p.G190D	Substitution - Missense	Large_intestine
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945313	c.407A>G	p.N136S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Bone
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53311	c.?	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM99760	c.516G>A	p.R172R	Substitution - coding silent	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Bone
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Bone
COSM4384861	c.676G>A	p.E226K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Bone
COSM52947	c.?	p.R172?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5575751	c.374-1G>C	p.?	Unknown	Stomach
COSM41296	c.?	p.R172W	Substitution - Missense	Bone
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Skin
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1658762	c.1054A>C	p.T352P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169399	c.?	p.G144R	Substitution - Missense	Skin
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41296	c.?	p.R172W	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM86960	c.512G>A	p.G171D	Substitution - Missense	Skin
COSM4954396	c.178C>G	p.R60G	Substitution - Missense	Liver
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41877	c.418C>T	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM1210232	c.743T>C	p.M248T	Substitution - Missense	Large_intestine
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5945714	c.424A>C	p.I142L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Liver
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41296	c.?	p.R172W	Substitution - Missense	Bone
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34039	c.514A>T	p.R172W	Substitution - Missense	Central_nervous_system
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM86960	c.512G>A	p.G171D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM131566	c.?	p.R172G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53311	c.?	p.R140W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133672	c.516G>C	p.R172S	Substitution - Missense	Bone
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52947	c.?	p.R172?	Substitution - Missense	Central_nervous_system
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4954396	c.178C>G	p.R60G	Substitution - Missense	Liver
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3999681	c.518A>C	p.H173P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4254911	c.409G>T	p.G137*	Substitution - Nonsense	Lung
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM99759	c.492G>A	p.W164*	Substitution - Nonsense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM24361	c.880G>A	p.V294M	Substitution - Missense	Skin
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144496	c.?	p.R172S	Substitution - Missense	Central_nervous_system
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Central_nervous_system
COSM41296	c.?	p.R172W	Substitution - Missense	Biliary_tract
COSM33731	c.514A>G	p.R172G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34039	c.514A>T	p.R172W	Substitution - Missense	Central_nervous_system
COSM966438	c.1239G>A	p.K413K	Substitution - coding silent	Endometrium
COSM6005781	c.1303A>T	p.T435S	Substitution - Missense	Skin
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Bone
COSM34090	c.516G>T	p.R172S	Substitution - Missense	Bone
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Central_nervous_system
COSM41295	c.?	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41295	c.?	p.R172K	Substitution - Missense	Oesophagus
COSM1685352	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33733	c.515G>A	p.R172K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM49103	c.?	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM41590	c.419G>A	p.R140Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM33732	c.515G>T	p.R172M	Substitution - Missense	Central_nervous_system

> Text Mining based Variations

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PMID	Variation	Cancer	Evidence
27458708	Mutation	Acute Myeloid Leukemia	Overall, somatic mutations in TET2, IDH1, IDH2, WT1 and DNMT3A were common in our cohort of AML cases.
20972461	Mutation	Glioma	Soon, it became clear that the mutations identified impaired the ability of IDH1 and IDH2 to catalyze the conversion of isocitrate to α-ketoglutarate (αKG), whereas conferring a gain of a novel enzymatic activity leading to the reduction of αKG to the metabolite D2-hydroxyglutarate (D-2HG). Across glioma as well as several hematologic malignancies, mutations in IDH1 and IDH2 have shown prognostic value.
21625441	Mutation	Glioblastoma	Mutations in IDH2 at codon 172 are present in grade II-III gliomas at a low frequency.
21641335	Mutation	Glioma	Heterozygous mutations in either the R132 residue of isocitrate dehydrogenase I (IDH1) or the R172 residue of IDH2 in human gliomas were recently highlighted.
22105553	Mutation	Glioma	Glioma-specific mutations in IDH1 always produced a single amino acid substitution at R132, but mutations in IDH2 were exclusively at R172 which was the analogous site to R132 in IDH1. Mutations of IDH1 and IDH2 led to simultaneous loss and gain of activities in the production of α-ketoglutarate and 2-hydroxyglutarate, respectively.
22824796	Mutation	Glioma; Myeloid Leukemia; Chondrosarcoma; Thyroid Gland Carcinoma; Intrahepatic Cholangiocarcinoma	Mutations in the genes encoding isocitrate dehydrogenase, IDH1 and IDH2, have been reported in gliomas, myeloid leukemias, chondrosarcomas and thyroid cancer. We discovered IDH1 and IDH2 mutations in 34 of 326 (10%) intrahepatic cholangiocarcinomas.
23226729	Mutation	Glioma; Acute Myeloid Leukemia	The abnormal expression of IDH2 has been reported in several types of cancer, and mutations in IDH2 have been identified in gliomas and acute myelogenous leukemia.
24549719	Mutation	Glioma	Mutations of IDH1 and IDH2 lead to simultaneous loss and gain of activities in the production of α-ketoglutarate and 2-hydroxyglutarate, respectively.
26268241	Mutation	Angioimmunoblastic T-Cell Lymphoma	We performed targeted resequencing on 92 cases of PTCL and identified frequent mutations affecting RHOA, TET2, DNMT3A, and isocitrate dehydrogenase 2 (IDH2). Although IDH2 mutations are largely confined to AITL, mutations of the other 3 can be found in other types of PTCL, although at lower frequencies. Ectopic expression of IDH2(R172K) in the Jurkat cell line and CD4(+) T cells led to markedly increased levels of 2-hydroxyglutarate, histone-3 lysine methylation, and 5-methylcytosine and a decrease of 5-hydroxymethylcytosine.
26297264	Mutation	Acute Myeloid Leukemia	Mutations in genes other than BCR-ABL1 include ASXL1, TET2, RUNX1, DNMT3A, EZH2, and TP53 in chronic phase patients and RUNX1, ASXL1, IKZF1, WT1, TET2, NPM1, IDH1, IDH2, NRAS, KRAS, CBL, TP53, CDKN2A, RB1, and GATA-2 mutations in advanced phase patients.
27759701	Mutation	Acute Myeloid Leukemia	Bone marrow biopsy was diagnosed with AML, not otherwise specified, with mutations of FLT3 and IDH2 (R140Q).
27621679	Mutation (gain of function)	Low Grade Glioma; Glioblastoma, IDH-Mutant; Chondrosarcoma; Intrahepatic Cholangiocarcinoma; Hematopoietic and Lymphoid Cell Neoplasm	IDH1/2 mutations define distinct subsets of cancers, including low-grade gliomas and secondary glioblastomas, chondrosarcomas, intrahepatic cholangiocarcinomas, and hematologic malignancies. Somatic point mutations in IDH1/2 confer a gain-of-function in cancer cells, resulting in the accumulation and secretion in vast excess of an oncometabolite, the D-2-hydroxyglutarate (D-2HG).
27582470	Mutation	Acute Myeloid Leukemia	Mutations of isocitrate dehydrogenase 1 and 2 (IDH1/2) occur in a subset of acute myeloid leukemia patients, causing metabolic and epigenetic derangements. Combining mathematical modeling and in vivo as well as ex vivo studies, we found that increased amounts of the oncometabolite d-2-hydroxyglutarate (D2-HG), produced by IDH2 mutant leukemic cells, cause contractile dysfunction in the heart.
27577048	Mutation	Acute Myeloid Leukemia	Mutations of isocitrate dehydrogenase 1 (IDH1) and IDH2 in acute myeloid leukemia (AML) cells produce the oncometabolite R-2-hydroxyglutarate (R-2HG) to induce epigenetic alteration and block hematopoietic differentiation.
27568819	Mutation (gain of function)	Acute Myeloid Leukemia	We found that patients with activating mutations, such as FLT3-ITD, had shorter TL, while those with mutations in epigenetic modifying enzymes, particularly IDH1 and IDH2, had longer TL.
27461824	Mutation	Periosteal Chondroma	A recent comprehensive study has identified the isocitrate dehydrogenase 1 (IDH1) and IDH2 mutations in conventional central and periosteal cartilaginous tumors, and it has subsequently been analyzed in intracranial chondrosarcoma and chondroma, including chondroma of the convexity dura mater.
27460417	Mutation	NCI CTEP SDC Astrocytoma, High Grade Sub-Category Terminology	These mutations mostly involve Arg132 in IDH1, and Arg172 or Arg140 in IDH2.
27447873	Mutation	Myeloproliferative Neoplasm	Contrarily, DNA methylation genes (DNMT3A, IDH1, IDH2 and TET2) were mutated most often in PV (0·5) and less frequently in ET (0·23) and PMF (0·20), but without reaching statistical significance.
27427385	Mutation	Low Grade Glioma; Acute Myeloid Leukemia; Chondrosarcoma	A major advance in understanding the progression and prognostic outcome of certain cancers, such as low-grade gliomas, acute myeloid leukaemia, and chondrosarcomas, has been the identification of early-occurring mutations in the NADP(+)-dependent isocitrate dehydrogenase genes IDH1 and IDH2. These mutations result in the production of the onco-metabolite D-2-hydroxyglutarate (2HG), thought to contribute to disease progression.
27359055	Mutation	Acute Myeloid Leukemia	We selected 19 significantly-mutated genes in AMLs, including FLT3, DNMT3A, NPM1, TET2, RUNX1, CEBPA, WT1, IDH1, IDH2, NRAS, ASXL1, SETD2, PTPN11, TP53, KIT, JAK2, KRAS, BRAF and CBL, and performed massively parallel sequencing for 114 patients with acute myeloid leukemias, mainly including those with normal karyotypes (CN-AML).
27355333	Mutation (gain of function)	Glioma; Acute Myeloid Leukemia; Cholangiocarcinoma; Chondrosarcoma	Recurrent mutations in IDH1 or IDH2 are prevalent in several cancers including glioma, acute myeloid leukemia (AML), cholangiocarcinoma and chondrosarcoma. The mutated IDH1 and IDH2 proteins have a gain-of-function, neomorphic activity, catalyzing the reduction of α-ketoglutarate (α-KG) to 2-hydroxyglutarate (2-HG) by NADPH.
27353503	Mutation	Malignant Glioma	IDH1 and IDH2 mutations were mutually exclusive, and all mutated tumors were collapsed into one IDH-mutated cohort.
27334978	Mutation	Grade II Glioma; WHO Grade III Glioma	Mutations in the IDH1/2 genes are central to gliomagenesis in a high proportion of grade II and III gliomas, and ongoing trials are examining vaccines against IDH1, small molecular inhibitors of IDH1 and IDH2, and metabolic components including NAD+ depletion to target IDH-mutated gliomas.
27292784	Mutation (gain of function)	Low Grade Glioma; Leukemia	Genetic gain-of-function mutations in IDH1 and IDH2 confers a neomorphic activity that allows reduction of α-KG to (R)-2-hydroxyglutarate, the accumulation of which results in the development of cancers like low grade gliomas and leukemia.
27245697	Mutation	Low Grade Glioma; Glioblastoma, IDH-Mutant	Mutations in isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) are frequent in low-grade gliomas and secondary glioblastomas (sGBM).
27231123	Mutation	Intrahepatic Cholangiocarcinoma	Intrahepatic cholangiocarcinoma (ICC) is an aggressive liver bile duct malignancy exhibiting frequent isocitrate dehydrogenase (IDH1/IDH2) mutations.
27151043	Mutation	Acute Myeloid Leukemia	The isocitrate dehychogenase 2 (IDH2) gene mutation has been recently found, which may be associated with the course of AML. The incidence of IDH2 gene mutation in the patients with acute myeloid leukemia is high, especially in the AML patients with normal karyotype. Different subtypes of IDH2 mutation, or companing other molecular biology, will make different influence on clinical features and progress of patients with AML. IDH2 mutation is stable, which can be used as the test sign of AML and minimal residual disease (MRD), and for guiding the clinical treatment and predicting the progress.
27137476	Mutation	Acute Myeloid Leukemia	RUNX1 mutations were found in 245 of 2439 (10%) patients; were almost mutually exclusive of AML with recurrent genetic abnormalities; and they co-occurred with a complex pattern of gene mutations, frequently involving mutations in epigenetic modifiers (ASXL1, IDH2, KMT2A, EZH2), components of the spliceosome complex (SRSF2, SF3B1) and STAG2, PHF6, BCOR.
27116977	Mutation (gain of function)	Glioma	Gain-of-function mutations in isocitrate dehydrogenases (IDH1 and IDH2) promote diffuse glioma formation through epigenetic reprogramming of a number of genes, including immune-related genes.
27050425	Mutation	Acute Myeloid Leukemia	Median OS was 2.8 years among 14 patients with intermediate cytogenetics and favorable mutational profiles (mutant NPM1 and mutant IDH1 or IDH2) and 1.3 years among patients with intermediate mutational profiles. However, mutations in six out of the nine genes can be used to characterize survival (NPMI, IDH1, IDH2, FLT3-ITD, TET2, DNMT3A) and allow for more robust prognostication in the patients who are re-categorized by the IGP model.
27014635	Mutation	Low Grade Glioma; Glioblastoma, IDH-Mutant; Acute Myeloid Leukemia	Most notably, cytosolic IDH1 is mutated in 70-90% of low-grade gliomas and upgraded glioblastomas, and mitochondrial IDH2 is mutated in ~20% of acute myeloid leukemia cases.
27014623	Mutation (gain of function)	Glioma	D2HG is generated in large amounts due to various gain-of-function mutations in the isocitrate dehydrogenases IDH1 and IDH2.
27005468	Mutation	Glioma; Acute Myeloid Leukemia; Myelodysplastic Syndrome	Isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) are key metabolic enzymes, converting isocitrate to α-ketoglutarate (αKG).IDH1 and IDH2 mutations have been identified in multiple tumor types, including gliomas and myeloid malignancies such as acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS).
26975364	Mutation	Glioblastoma	Among these subgroups, IDH GBMs carry mutations within IDH1 or IDH2 The K27 and G34 subgroups are characterized by distinct mutations within Histone 3 (H3).
26948350	Mutation	Glioma	We review the current state of diagnostic molecular markers for gliomas, focusing on isocitrate dehydrogenase 1 or 2 (IDH1/IDH2) gene mutation, α-thalassemia/mental retardation syndrome X-linked (ATRX) gene mutation, 1p/19q co-deletion and telomerase reverse transcriptase (TERT) promoter mutation in adult tumors, as well as v-raf murine sarcoma viral oncogene homolog B1 (BRAF) and H3 histone family 3A (H3F3A) aberrations in pediatric gliomas.
26943899	Mutation	Acute Myeloid Leukemia	Ward and colleagues demonstrate the mutations in isocitrate dehydrogenase 2 (IDH2), commonly found in acute myeloid leukemia (AML), abrogate the enzyme's wild-type activity and confer to the mutant neomorphic activity that produces the oncometabolite 2-hydroxyglutarate (2-HG) (Figures 2 and 3). They then show that elevated levels of 2-HG are correlated with mutations in IDH1 and IDH2 in AML patient samples (Figure 5).
26927648	Mutation	Malignant Glioma	To date, four major biomarkers have been described for high-grade gliomas: 1p/19q deletion, O6-methylguanine-DNA methyltransferase (MGMT) promoter mutation, IDH1/IDH2 mutation, and microRNA.
26920730	Mutation	Maffucci Syndrome; Intrahepatic Choloangiocarcinoma	Heterozygous somatic mutations in the isocitrate dehydrogenase 1 and 2 (IDH1/IDH2) genes are associated with a number of different tumor types (e.g. IHCC) and also with Maffucci syndrome. For IHCC, mutations in IDH1/IDH2 are associated with higher survival rates.
26880370	Mutation	T Acute Lymphoblastic Leukemia	Here we used whole genome next generation sequencing (NGS) of uncultured freshly isolated ATL samples and identified the presence of mutations in SUZ12, DNMT1, DNMT3A, DNMT3B, TET1, TET2, IDH1, IDH2, MLL, MLL2, MLL3 and MLL4.
26859452	Mutation	Glioma	Glioma-associated mutations in IDH1 or IDH2 lead to aberrant DNA methylation.
26834160	Mutation	Glioma	Recurrent mutations in the isocitrate dehydrogenase 1 (IDH1) and IDH2 genes, which are frequent in gliomas, result in marked accumulation of the metabolic by-product 2-hydroxyglutarate (2-HG) within tumors.
26819452	Mutation	Glioma; Acute Myeloid Leukemia; Chondrosarcoma; Intrahepatic Cholangiocarcinoma	IDH1 and IDH2 are homodimeric enzymes that catalyze the conversion of isocitrate to α-ketoglutarate (α-KG) and concomitantly produce reduced NADPH from NADP(+). Mutations in the genes encoding IDH1 and IDH2 have recently been found in a variety of human cancers, most commonly glioma, acute myeloid leukemia (AML), chondrosarcoma, and intrahepatic cholangiocarcinoma.
26699864	Mutation	Diffuse Glioma	Of these, IDH1 or IDH2 mutations are associated with lowest hazard ratio, which confirms IDH as the most important prognostic marker in diffuse gliomas.
26669865	Mutation	Glioma	Notably, IDH2 mutation produced more 2-HG than IDH1 mutation, consistent with previous findings in cell culture.
26668680	Mutation	Essential Thrombocythemia; Primary Myelofibrosis	Mutant IDH (IDH1 or IDH2) was documented in five of PMF (6.5%) and two of ET patients (1.9%). Of the five IDH-mutated PMF patients, four (80%) displayed IDH1 (three IDH1 R132C and one IDH1 R132S) and one (20%) carried IDH2 (IDH2 R140Q) mutation.
26617922	Mutation	Angioimmunoblastic T-Cell Lymphoma	Angioimmunoblastic T-cell lymphoma (AITL) is an aggressive peripheral T-cell lymphoma with mutations in genes encoding isocitrate dehydrogenase1 and 2 (IDH1 and IDH2).
26590767	Mutation	Acute Myeloid Leukemia	Mutations in the active site of IDH1 at position R132 and an analogous mutation in the IDH2 gene at position R172 have been discovered.
26562302	Mutation	Myeloid Neoplasm	In the present study, the mutational profile of the Tet methylcytosine dioxygenase 2 (TET2), the isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2), the serine/arginine-rich splicing factor 2 (SRSF2), the splicing factor 3b subunit 1 (SF3B1), the Kirsten rat sarcoma viral oncogene homolog (KRAS) and the neuroblastoma RAS viral oncogene homolog (NRAS), commonly mutated in human myeloid malignancies and mastocytosis, was investigated in canine MCTs.
26553750	Mutation	Glioma; Acute Myeloid Leukemia; Angioimmunoblastic T-Cell lymphoma; Chondrosarcoma; Intrahepatic Cholangiocarcinoma	Mutations in mitochondrial IDH2, one of the three isoforms of IDH, were discovered in patients with gliomas in 2009 and subsequently described in acute myelogenous leukemia (AML), angioimmunoblastic T-cell lymphoma, chondrosarcoma, and intrahepatic chloangiocarcinoma.
26486786	Mutation	Essential Thrombocythemia	Next-generation sequencing identified additional mutations in 6 patients (affecting TET2, ASXL1, IDH2, and TP53 genes).
26452980	Mutation	Acute Myeloid Leukemia	Moreover, INK128 co-administered with the Bcl-2/xL antagonist ABT-737 sharply induced cell death in multiple acute myeloid leukemia cell lines, including TKI-resistant FLT3-ITD mutants and primary acute myeloid leukemia blasts carrying various genetic aberrations e.g., FLT3, IDH2, NPM1, and Kras, while exerting minimal toxicity toward normal hematopoietic CD34(+) cells.
26331834	Mutation	Acute Myeloid Leukemia; Myelodysplastic Syndrome	Over a 6-month period of clinical testing with a targeted next-generation sequencing assay, we evaluated 92 patients with acute myeloid leukemia, myelodysplastic syndrome, and chronic myelomonocytic leukemia and identified a subset of 21 patients (23%) who harbored mutations in either IDH1 or IDH2. Of the 21 patients with IDH mutations, 4 (19%) were found to have single nucleotide variants in both IDH1 and IDH2.
26303387	Mutation	Oligodendroglioma; Diffuse Astrocytoma	Somatic mutations in the isocitrate dehydrogenase 1 or 2 (IDH1/IDH2) genes were detected in 96% of LGO and 91% of LGA.
26191234	Mutation	Glioblastoma, IDH-Wildtype	We identified 53 missense or nonsense mutations in 27 genes including some novel mutations such as APC and IDH2.
26189213	Mutation	Acute Myeloid Leukemia	Prevalence and Clinical Effect of IDH1 and IDH2 Mutations Among Cytogenetically Normal Acute Myeloid Leukemia Patients. The frequencies of isocitrate dehydrogenase (IDH) 1 and IDH2 mutations among patients with de novo acute myeloid leukemia (AML) are different among different ethnic groups.
26111463	Mutation	Acute Myeloid Leukemia	In recent years, mutations in the IDH1 and IDH2 genes have been discovered across a range of malignancies, including AML, raising hope for effective targeted therapies.
26110659	Mutation	Acute Myeloid Leukemia	For example, in acute myeloid leukemia (AML) higher epigenetic age-predictions are associated with increased incidence of mutations in RUNX1, WT1, and IDH2, whereas mutations in TET2, TP53, and PML-PARA translocation are more frequent in younger age-predictions.
26046462	Mutation	Enchondroma	Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are found in a somatic mosaic fashion in patients with multiple enchondromas.
26015937	Mutation	Glioma	The discovery of novel mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) provides new biomarkers as points of stratification of gliomas based on prognosis and treatment response.
26007236	Mutation	Grade II Glioma; WHO Grade III Glioma; Glioblastoma, IDH-Mutant; Acute Myeloid Leukemia	Both idh2 and idh1 monoallelic mutations are harbored in grade 2/3 gliomas, secondary glioblastomas and acute myeloid leukemia.
25980633	Mutation	Glioma	The isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) genes mutate frequently in gliomas, and it has become increasingly apparent that IDH mutation status accounts for much of the prognostic information previously rendered by histological grading.
25975377	Mutation	Astrocytoma	The majority of diffusely infiltrating astrocytomas regardless of WHO grade have concurrent mutations of IDH1 or IDH2, TP53 and ATRX.
25956465	Mutation	Acute Myeloid Leukemia; Low Grade Glioma; Chondrosarcoma	Specific point mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) occur in a variety of cancers, including acute myeloid leukemia (AML), low-grade gliomas, and chondrosarcomas.
25943885	Mutation	Oligodendroglioma	More recently described biomarkers, including the non-balanced translocation leading to 1p/19q codeletion, promoter hypermethylation of the MGMT gene, mutations of the IDH1 or IDH2 gene, and mutations of FUBP1 (on 1p) or CIC (on 19q), have greatly enhanced our understanding of oligodendroglioma biology, although their diagnostic, prognostic, and predictive roles are less clear.
25895133	Mutation	Glioma; Leukemia; Chondrosarcoma	Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are found in a subset of benign and malignant cartilage tumors, gliomas and leukaemias. Compared to IDH1/2 wildtype cell lines, chondrosarcoma cell lines harboring an endogenous IDH1 (n=3) or IDH2 mutation (n=2) showed up to a 100-fold increase in intracellular and extracellular D-2-HG levels.
25891904	Mutation	Acute Myeloid Leukemia	We show very high concordance between HRM and Sanger sequencing (100% samples for IDH2-R140 and DNMT3-R882 mutations, 99% samples for IDH1-R132 and IDH2-R172 mutations).
25836588	Mutation	Myeloid Neoplasm	Variant allelic frequencies indicated that IDH1(MT) and IDH2(MT) are ancestral in up to 14/74 (19%) vs 34/99 (34%; P=0.027) of cases, respectively, illustrating the pathogenic role of these lesions in myeloid neoplasms.
25795706	Mutation	Acute Myeloid Leukemia	IDH2 and NPM1 Mutations Cooperate to Activate Hoxa9/Meis1 and Hypoxia Pathways in Acute Myeloid Leukemia. Taken together, our results indicated that IDH2 mutation is critical for the development and maintenance of AML stem-like cells, and they provided a preclinical justification for targeting mutant IDH enzymes as a strategy for anticancer therapy.
25753205	Mutation	Glioma; Osteosarcoma; Chondrogenic Neoplasm; Giant Cell Tumor of Bone; Acute Myeloid Leukemia	Isocitrate dehydrogenase 2 (IDH2) mutations have been reported in gliomas, osteosarcomas, cartilaginous tumors, giant cell tumors of bone, and acute myeloid leukemias.
25730874	Mutation	Enchondroma	Somatic mutations in the isocitrate dehydrogenase genes (IDH1 and IDH2) are present in the majority of these tumor types.
25727224	Mutation	Low Grade Glioma	Mutations in the isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) genes suggest a role for this abnormal metabolic pathway in the pathogenesis and progression of these primary brain tumors.
25696868	Mutation	Myeloproliferative Neoplasm	Other mutations in several epigenetic modifiers, such as ASXL1, DNMT3a, TET2, EZH2, IDH1, and IDH2, as well as in genes involved in mRNA splicing, such as SF3B1 and U2AF2, have also been described in recent years in patients with MPNs, and evidence is emerging as to how these may be contributing to disease biology.
25694352	Mutation	Oligodendroglioma	Causal genetic changes in oligodendrogliomas (OD) with 1p/19q co-deletion include mutations in IDH1, IDH2, CIC, FUBP1, TERT promoter and NOTCH1. Whole-genome sequencing identified a total of 55 coding mutations (range 8-32 mutations per tumor), including known abnormalities in IDH1, IDH2, CIC and FUBP1.
25651001	Mutation	Acute Myeloid Leukemia	Mutations in IDH1 and IDH2 occur in 15-20% of AML cases, resulting in the production of 2-hydroxyglutarate, which promotes aberrant hypermethylation of DNA in leukemic cells.
25601757	Mutation	Acute Myeloid Leukemia	Here we report that WT1, a sequence-specific transcription factor, is mutated in a mutually exclusive manner with TET2, IDH1, and IDH2 in acute myeloid leukemia (AML).
25599133	Mutation	Acute Myeloid Leukemia	IDH1- and IDH2-mutant primary human AML cells were more sensitive than IDH1/2 wild-type cells to ABT-199, a highly specific BCL-2 inhibitor that is currently in clinical trials for hematologic malignancies, both ex vivo and in xenotransplant models.
25586680	Mutation (gain of function)	Colorectal Carcinoma	The mutated forms of IDH1 and IDH2 produce an oncogenic metabolite, D-2-hydroxyglutarate (D2HG). The study of OxPhos-related genes revealed that an imbalance between the expression of IDH1 and IDH2, defined as overexpression of one isoform in relation to the other, was associated with worse prognosis in CRC patients.
25565925	Mutation	Maffucci Syndrome; Enchondromatosis	No PTHR1 mutations have been detected in MS, whereas somatic IDH1 and, more rarely, IDH2 mutations have been observed in 77% of patients with MS and 81% of patients with OD.
26948489	Mutation	Glioblastoma	Somatic mutations in IDH1 and IDH2 are described in glioblastomas (GBMs).
25523507	Mutation	Acute Myeloid Leukemia	Prognosis was adversely affected by high IDH1 expression, with shorter overall survival and event-free survival in the context of clinical characteristics, including age, WBC count, and gene mutations of NPM1, FLT3-ITD, CEBPA, IDH1, IDH2 and DNMT3A in CN-AML.
25512507	Mutation	Acute Myeloid Leukemia	Distinctive lncRNA profiles were found associated with selected mutations, such as internal tandem duplications in the FLT3 gene (FLT3-ITD) and mutations in the NPM1, CEBPA, IDH2, ASXL1, and RUNX1 genes.
25499150	Mutation	Myelodysplastic Syndrome	The most common driver gene mutations detected in patients with MDS include RNA splicing (SF3B1,SRSF2,U2F1,ZRSR2), DNA methylation (TET2,DNMT3A,IDH1/IDH2), chromatin modification (ASXL1,EZH2), transcription regulation (RUNX1,BCOR) and DNA repair control p53.
25495392	Mutation	Low Grade Glioma; Malignant Glioma; Glioblastoma; Grade II Glioma	IDH2 mutation in gliomas including novel mutation. Mutations in two isocitrate dehydrogenase (IDH) genes, IDH1 and IDH2, commonly occur in low-grade gliomas and secondary high-grade gliomas, but are rare in primary GBMs. IDH2 mutation was found in 3.3% of GBMs (3/90 cases) and 9.0% (4/44) of grades II to III gliomas.
25486927	Mutation	Glioblastoma; Acute Myeloid Leukemia	Mutations of isocitrate dehydrogenase isoform 1 and 2 (IDH1 and IDH2) genes have been identified in glioblastoma and acute myeloid leukemia (AML).
25485496	Mutation (gain of function)	Intrahepatic Cholangiocarcinoma	These tumors are characterized by frequent gain-of-function mutations in the isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) genes-that are also common in subsets of neural, haematopoietic and bone tumors, but rare or absent in the other types of gastrointestinal malignancy.
25482556	Mutation	Acute Myeloid Leukemia	The observation that WT1 inactivating mutations anticorrelate with TET2/IDH1/IDH2 mutations in acute myeloid leukemia (AML) led us to hypothesize that WT1 mutations may impact TET2 function.
25427834	Mutation	Diffuse Glioma	Further, all patients with 1p/19 codeletion carried a mutation in IDH1 or IDH2.
25398940	Mutation	Acute Myeloid Leukemia	Mutations of IDH1 and IDH2, which produce the oncometabolite 2-hydroxyglutarate (2HG), have been identified in several tumors, including acute myeloid leukemia.
25398939	Mutation (gain of function)	Leukemia	Gain-of-function mutations in nicotinamide adenine dinucleotide phosphate-dependent isocitrate dehydrogenase (IDH)1 and IDH2 frequently arise in human leukemias and other cancers and produce high levels of D-2-hydroxyglutarate (D-2HG).
25398938	Mutation	Acute Myeloid Leukemia	We found that mutations in WT1, IDH2, and CEBPA were strongly linked to DNA hypermethylation in AML using a novel integrative analysis of The Cancer Genome Atlas data based on Boolean implications, if-then rules that identify all individual CpG sites that are hypermethylated in the presence of a mutation.
25398843	Mutation	Grade II Glioma; WHO Grade III Glioma	Recent examples such as the identification of mutations in IDH1 and IDH2 as an early genetic event that is predominantly in lower-grade gliomas (grades 2 and 3) underscore the importance of molecular discovery leading to the ability to develop subclassifications with prognostic and potentially therapeutic implications.
25331842	Mutation	Chondrosarcoma	Recently, mutations in isocitrate dehydrogenase-1 (IDH1) and isocitrate dehydrogenase-2 (IDH2) were identified in central chondrosarcomas.
25324168	Mutation	Glioma	In gliomas, IDH mutations uniformly occur in the functionally critical arginine 132 residue (R132) of IDH1 and arginine 172 residue (R172) of IDH2.
25185240	Mutation	Breast Carcinoma	When tumor samples were analyzed, 12 of 17 (71%, 95% confidence interval (CI) 44% to 90%) patients had ≥1 mutation (median 1 mutation per patient, range 0-2 mutations) in either p53, PIK3CA, PTEN, AKT1 or IDH2 gene. When plasma samples were analyzed, 12 of 17 (71%, 95% CI: 44-90%) patients had ≥1 mutation (median 1 mutation per patient, range 0-2 mutations) in either p53, PIK3CA, PTEN, AKT1, IDH2 and SMAD4.
25115387	Mutation	Blastic Plasmacytoid Dendritic Cell Neoplasm	We detected point mutations in NRAS (27.3% of cases), ATM (21.2%), MET, KRAS, IDH2, KIT (9.1% each), APC and RB1 (6.1%), as well as in VHL, BRAF, MLH1, TP53 and RET1 (3% each). Moreover, NRAS-, KRAS- and ATM-mutations were found to be mutually exclusive and we observed recurrent mutations in NRAS, IDH2, APC and ATM.
25043045	Mutation	Intrahepatic Cholangiocarcinoma	Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are among the most common genetic alterations in intrahepatic cholangiocarcinoma (IHCC), a deadly liver cancer.
25022553	Mutation	Acute Myeloid Leukemia	Twenty gene mutations including class I, class II, class III of epigenetic regulators (IDH1, IDH2, TET2, DNMT3A, MLL-PTD, ASXL1, and EZH2), and class IV (tumor suppressor genes) were analyzed in 67 patients with AML-M0. The most frequent gene mutations from our data were FLT3-ITD/FLT3-TKD (28.4%), followed by mutations in IDH1/IDH2 (28.8%), RUNX1 (23.9%), N-RAS/K-RAS (12.3%), TET2 (8.2%), DNMT3A (8.1%), MLL-PTD (7.8%), and ASXL1 (6.3%).
25017477	Mutation	Acute Myelopid Leukemia; Myeloproliferative Neoplasm	Thirty samples with known mutations in JAK2, NPM1, DNMT3A, MPL, IDH1, IDH2, CEBPA, and FLT3, were profiled and sequenced to high depth.
24995286	Mutation	Chondrosarcoma; Cholangiosarcoma; Acute Myeloid Leukemia	A recent research of cancer has indicated that the mutant of isocitrate dehydrogenase 1 and 2 (IDH1 and 2) genes will induce various cancers, including chondrosarcoma, cholangiocarcinomas, and acute myelogenous leukemia due to the effect of point mutations in the active-site arginine residues of isocitrate dehydrogenase (IDH), such as IDH1/R132, IDH2/R140, and IDH2/R172.
24989313	Mutation	Myelodysplastic Syndrome	Patients with IDH1 mutation have a shorter overall survival and a higher risk of AML transformation than that of patients with wild-type IDH1, while IDH2 was a poor prognostic factor for overall survival in patients with lower-risk MDS.
24986689	Mutation	Acute Myeloid Leukemia	Patients with acute myeloid leukemia (AML) frequently harbor mutations in genes involved in the DNA (hydroxy)methylation pathway (DNMT3A, TET2, IDH1, and IDH2).
24952577	Mutation	WHO Grade III Glioma; Glioblastoma	Genome-wide array comparative genomic hybridisation (aCGH), mutation analysis of IDH1/2 and TP53 and methylation analyses of the MGMT CpG-island was done.84% of grade III tumours and 17% of grade IV had IDH1 or IDH2 mutations that conferred a better prognosis in both; MGMT methylation (defined as average value across 16 CpGs≥10%) occurred in 75% of tumours and was also associated with improved survival.
24942948	Mutation	Acute Myeloid Leukemia	Recent advances in comprehensive genomic analyses in acute myeloid leukemia have revealed prevalent mutations in regulators of epigenetic phenomena including global DNA methylation status. The examples include mutations in isocitrate dehydrogenase 1 (IDH1), IDH2, and ten-eleven translocation 2.
24889502	Mutation	Glioma	Mutations in isocitrate dehydrogenase genes IDH1 or IDH2 are frequent in glioma, and IDH mutation status is a strong diagnostic and prognostic marker.
24880135	Mutation	Glioma; Acute Myeloid Leukemia; Chondrosarcoma; Intrahepatic Cholangiocarcinoma; Angioimmunoblastic T-Cell Lymphoma	Mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) are key events in the development of glioma, acute myeloid leukemia (AML), chondrosarcoma, intrahepatic cholangiocarcinoma (ICC), and angioimmunoblastic T-cell lymphoma.
24877111	Mutation	Oligodendroglial Tumor	We found that the distribution of IDH1(R132H) , IDH1(nonR132H) , and IDH2 mutations differed between astrocytic, mixed, and oligodendroglial tumors, with an overrepresentation of IDH2 mutations in oligodendroglial phenotype and an overrepresentation of IDH1(nonR132H) in astrocytic tumors.
24868540	Mutation	Glioblastoma	Mutations in genes encoding isocitrate dehydrogenase isoforms 1 (IDH1) and 2 (IDH2) have been associated with good prognosis for patients with brain neoplasias and have been commonly found together with mutated TP53 gene. IDH1 mutations were detected in 13 and IDH2 mutation in one patient.
24867525	Mutation	Acute Myeloid Leukemia	Firstly, by analyzing biomarkers associated with AML, to assist normal clinical tests, we confirmed that the patient was anormal karyo type, with NPM1 and IDH2 mutations and deregulation patterns of related genes, such as BAALC, ERG, MN1 and HOX family.
24859829	Mutation	Acute Myeloid Leukemia	We found that 16.1 % of patients had TET2 mutations, 31.6 % had FLT3 internal tandem duplications (ITDs), 6.2 % had FLT3 tyrosine kinase domain mutations, 2.4 % had c-KIT mutations, 37.8 % had NPM1 mutations, 11.3 % had WT1 mutations, 5.9 % had RUNX1 mutations, 11.5 % had ASXL1 mutations, 3.8 % had MLL-PTDs, 7.8 % had IDH1 mutations, 7.8 % had NRAS mutations, 12.3 % had IDH2 mutations, 1.6 % had EZH2 mutations, and 14.7 % had DNMT3A mutations, while none had CBL mutations.
24760710	Mutation	Acute Myeloid Leukemia; Glioma; Chondrosarcoma; Cholangiocarsinoma	Mutations in the IDH1 and IDH2 (isocitrate dehydrogenase) genes have been discovered across a range of solid-organ and hematologic malignancies, including acute myeloid leukemia, glioma, chondrosarcoma, and cholangiocarcinoma.
24747768	Mutation	Low Grade Glioma; Glioblastoma, IDH-Mutant	One such difference concerns mutations in the NADP(+)-dependent isocitrate dehydrogenase (IDH1 and IDH2) genes, which occur in >80% of cases of low grade glioma and secondary glioblastoma.
24722048	Mutation	Malignant Glioma	Frequent mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) and the promoter of telomerase reverse transcriptase (TERT) represent two significant discoveries in glioma genomics.
24699305	Mutation	Acute Myeloid Leukemia	In particular, frequent mutation has been observed in the genes encoding DNA methyltransferase 3A (DNMT3A), isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2), as well as Tet oncogene family member 2.
24590286	Mutation	Acute Myeloid Leukemia	We previously reported that SPARC was among the most upregulated genes in cytogenetically normal acute myeloid leukemia (CN-AML) patients with gene-expression profiles predictive of unfavorable outcome, such as mutations in isocitrate dehydrogenase 2 (IDH2-R172) and overexpression of the oncogenes brain and acute leukemia, cytoplasmic (BAALC) and v-ets erythroblastosis virus E26 oncogene homolog (ERG).
24532422	Mutation	Cholangiocarcinoma	CCA with Ov shows significantly higher incidence of the TP53 gene mutation, whereas CCA without Ov showed significantly more frequent mutations of the BAP1, IDH1 and IDH2 genes.
24532263	Mutation	Childhood Astrocytoma; Childhood Diffuse Astrocytoma	This study identified the expression of KIAA1549-BRAF fusion gene and BRAF V600E mutation, mutations at exon 4 of the IDH1 and IDH2 genes in samples of pilocytic astrocytomas (PA) and grade-II astrocytomas (A-II) pediatric patients. Additionally, we observed two mutations out of the usual hotspots at IDH1 and IDH2 genes.
24511544	Mutation	Glioblastoma	Recent whole-genome studies revealed novel GBM prognostic biomarkers such as mutations in metabolic enzyme IDH-isocitrate dehydrogenases (IDH1 and IDH2).
24478380	Mutation	Intrahepatic Cholangiocarcinoma	Mutations in the IDH1 and IDH2 (IDH1/2) genes occur in approximately 20% of intrahepatic cholangiocarcinoma and lead to accumulation of 2-hydroxyglutarate (2HG) in the tumor tissue.
24460285	Mutation	Grade II Glioma; WHO Grade III Glioma; Glioblastoma, IDH-Mutant	Recent genome wide sequencing has identified mutations in IDH1/IDH2 predominantly in grade II-III gliomas and secondary glioblastomas which are associated with favorable clinical outcome.
24458248	Mutation	Benign Chondrogenic Neoplasm; Chondrosarcoma	These early-stage mutations, found in both benign cartilaginous lesions and chondrosarcomas, include alterations affecting the IHH/PTHrP and IDH1/IDH2 pathways.
24443894	Mutation	Acute Myeloid Leukemia	IDH1 and IDH2 mutations confer an adverse effect in patients with acute myeloid leukemia lacking the NPM1 mutation. IDH2 mutations were found in 19 (8.2%, 17 R140 and two R172) patients. IDH1 and IDH2 mutations were mutually exclusive and were associated with normal karyotype AML, cytogenetic intermediate-risk group, and NPM1 mutations.
24440599	Mutation	Acute Myeloid Leukemia	Mutations in the metabolic enzymes isocitrate dehydrogenase-1 (IDH1) and IDH2 that produce the oncometabolite D-2-hydroxyglutarate (2-HG) occur frequently in human acute myeloid leukemia (AML).
24413737	Mutation	Angioimmunoblastic T-Cell Lymphoma	Although frequent mutations in TET2, IDH2 and DNMT3A, which are common to various hematologic malignancies, have been identified in AITL, the molecular pathogenesis specific to this lymphoma subtype is unknown.
24413734	Mutation	Angioimmunoblastic T-Cell Lymphoma; Peripheral T Cell Lymphoma	These analyses identified highly recurrent epigenetic factor mutations in TET2, DNMT3A and IDH2 as well as a new highly prevalent RHOA mutation encoding a p.Gly17Val alteration present in 22 of 35 (67%) angioimmunoblastic T cell lymphoma (AITL) samples and in 8 of 44 (18%) PTCL, not otherwise specified (PTCL-NOS) samples.
24403254	Mutation	Osteosarcoma	This report is the first describing IDH2 mutations in osteosarcoma, which can be detected by MsMab-1 mAb.
24344754	Mutation	Maffucci Syndrome	We analyzed the IDH1 and IDH2 mutations of enchondroma, hemangioma and anaplastic astrocytoma tissues and the same somatic mosaic mutation in IDH2 gene was identified in all these tissues.
24319229	Mutation	Myeloproliferative Neoplasm	Recently, mutations in several epigenetic modifiers have been described in patients with MPNs, including mutations in ASXL1, DNMT3A, EZH2, IDH1, IDH2, and TET2.
24309525	Mutation	Acute Myeloid Leukemia	Specific combinations of mutations, including FLT3 and IDH1/IDH2/TET2, frequently co-occur in acute myeloid leukemia (AML) and are associated with poor prognosis.
24295421	Mutation	Glioma; Acute Myeloid Leukemia	Somatic mutations in genes encoding IDH1 and IDH2 were first identified in glioma and subsequently in acute myeloid leukemia and other solid tumors.
24272205	Mutation	Early Gastric Cancer	CDKN2A, IDH2, MET, and RET mutations were observed only in EGC.
24185513	Mutation	Cholangiocarcinoma	Comparisons between intrahepatic O. viverrini-related and non-O. viverrini-related CCAs demonstrated statistically significant differences in mutation patterns: BAP1, IDH1 and IDH2 were more frequently mutated in non-O. viverrini CCAs, whereas TP53 mutations showed the reciprocal pattern.
24185509	Mutation	Cholangiocarcinoma	We also identified frequent mutations at previously reported hotspots in the IDH1 and IDH2 genes encoding metabolic enzymes in intrahepatic cholangiocarcinomas.
24184969	Mutation	Oligodendroglial Tumor	This locus is specifically associated with IDH1-mutated and IDH2-mutated tumors and oligodendroglial tumors, albeit the specific mechanism of tumor development is not understood.
24149775	Mutation	Anaplastic Brain Stem Glioma	A total of 108 and 3 patients harbored IDH1 and IDH2 gene mutation, respectively.
24138945	Mutation	Acute Myeloid Leukemia	There was no significant difference in age, blood parameters, FAB/WHO subtypes, karyotype risks and nine gene mutations (FLT3-ITD, NPM1, C-KIT, IDH1/IDH2, DNMT3A, C/EBPA and N/K-RAS) between patients with and without let-7a-3 overexpression (P>0.05).
24083241	Mutation	Oligodendroglial Tumor	In oligodendroglial tumors, it was strongly associated with both IDH1/IDH2 mutations and total 1p/19q codeletion and inversely with EGFR gene amplification.
24082129	Mutation	Acute Myeloid Leukemia	The 2-hydroxyglutarate (2-HG) has been reported to result from mutations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) genes and to function as an oncometabolite.
24077826	Mutation	Glioma	Mutation in the IDH1 or IDH2 genes occurs frequently in gliomas and other human malignancies.
24065766	Mutation (gain of function)	Chondrosarcoma	More than 50% of patients with chondrosarcomas exhibit gain-of-function mutations in either isocitrate dehydrogenase 1 (IDH1) or IDH2.
24065765	Mutation	Acute Myeloid Leukemia	Somatic mutations in the isocitrate dehydrogenase (IDH) genes IDH1 and IDH2 occur frequently in acute myeloid leukemia (AML) and other cancers.
24045501	Mutation	Myelodysplastic Syndrome	TET2, DNMT3A, IDH1/IDH2, ASXL1, CBL, RAS and SF3B1 mutations were found in 18, 9, 8, 26, 3, 2 and 13% of patients, respectively.
23996483	Mutation	Myelodysplastic Syndrome	Somatic mutations of TET2, IDH1, and IDH2 have been described in myelodysplastic syndrome. Among the 168 de novo myelodysplastic syndrome patients, the frequency of TET2, IDH1, and IDH2 mutations was 18.5%, 4.2% and 6.0%, respectively.
23958880	Mutation	Chondrosarcoma	Their genetic characterization revealed triploid karyotypes, mutations in IDH1, IDH2, and TP53, deletion in CDKN2A and/or MDM2 amplification.
23955456	Mutation	Acute Myeloid Leukemia	In 21 strongly CD105+ AML cases tested for the IDH2 mutation, 9 (42%) were mutated (P = .004).
23949914	Mutation	Acute Myeloid Leukemia	Recent advances in sequencing technologies have led to the identification of recurrent mutations in genes that regulate DNA methylation including DNA methyltransferase 3A (DNMT3A), ten-eleven translocation 2 (TET2), and isocitrate dehydrogenase 1 (IDH1) and IDH2.
23949315	Mutation	Acute Myeloid Leukemia	NADP-dependent enzyme isocitrate dehydrogenase (IDH) mutations, IDH1 and IDH2, have been described in acute myeloid leukemia (AML) using next generation sequencing approaches. IDH2 mutations are heterozygous; they alter a single arginine residue at position 140 or 172 and have distinct prognostic significance.
23929217	Mutation	Acute Myeloid Leukemia	According to the mutation status of eight genes, including NPM1, CEBPA, IDH2, RUNX1, WT1, ASXL1, DNMT3A and FLT3, that had prognostic significance, 229 patients with intermediate-risk cytogenetics could be refinedly stratified into three groups with distinct prognosis (P<0.001); patients with good-risk genotypes had a favorable outcome (overall survival, OS, not reached) similar to those with good-risk cytogenetics, whereas those with poor-risk genotypes had an unfavorable prognosis (OS, 10 months) similar to those with poor-risk cytogenetics (OS, 13.5 months), and the remaining patients with other genotypes had an intermediate outcome (OS, 25 months).
23896276	Mutation	Glioma	Moreover, large-scale molecular profiling approaches have identified new mutations in gliomas, affecting IDH1, IDH2, H3F3, ATRX, and CIC, which has allowed subclassification of gliomas into distinct molecular subgroups with characteristic features of age, localisation, and outcome.
23894344	Mutation	Glioma	Isocitrate dehydrogenase isoforms 1 and 2 (IDH1 and IDH2) mutations have received considerable attention since the discovery of their relation with human gliomas.
23877318	Mutation	Astrocytoma; Oligodendroglioma; Oligoastrocytoma; Glioblastoma, IDH-Mutant	IDH1 and IDH2 are mutated in 50%-80% of astrocytomas, oligodendrogliomas, oligoastrocytomas, and secondary glioblastomas but are seldom mutated in primary glioblastomas.
23840696	Mutation	Low Grade Glioma	IDH1/IDH2 mutation was detected in 32 primary tumors, with 25 low-grade gliomas and 6 anaplastic gliomas harboring IDH1 mutation and 1 low-grade glioma harboring IDH2 mutation.
23815907	Mutation	Acute Myeloid Leukemia	The results showed that IDH2 mutation was found in 14 (7.29%) of 192 patients. IDH2 mutation was detected in 5 (8.47%) of 59 CN-AML.
23801749	Mutation	Maffucci Syndrome	Interestingly, somatic IDH1 and IDH2 mutations, and loss-of-function mutations in ten-eleven translocation (TET) methylcytosine dioxygenase-2 (TET2) associated with a hypermethylation phenotype, are also found in multiple enchondromas of patients with Ollier disease and Mafucci syndrome, and leukemia, respectively.
23796461	Mutation	Glioma; Acute Myeloid Leukemia; Chondrosarcoma; Cholangiocarcinoma; Angioimmunoblastic T-Cell Lymphoma	Heterozygous mutations in catalytic arginine residues of isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2) are common in glioma, acute myeloid leukemia, chondrosarcoma, cholangiocarcinoma, and angioimmunoblastic T-cell lymphoma.
23782684	Mutation	Glioma; Chondrogenic Neoplasm; Acute Myeloid Leukemia	Mutations of isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) have been reported in gliomas, cartilaginous tumors, and acute myeloid leukemias.
23770606	Mutation	Chondrosarcoma	Recent work has identified frequent, recurrent mutations in IDH1 or IDH2 in nearly half of central chondrosarcomas. In addition, we identified mutations in IDH1 or IDH2 (59%), TP53 (20%), the RB1 pathway (33%) and Hedgehog signaling (18%).
23755812	Mutation	Acute Myeloid Leukemia	IDH1 and IDH2 mutations were detected in 27 (4.74%) patients and 63 (11.05%) patients respectively.
23690417	Mutation	Chronic Myelomonocytic Leukemia	ASXL1 mutations (P < .0001) and, to a lesser extent, SRSF2 (P = .03), CBL (P = .003), and IDH2 (P = .03) mutations predicted inferior OS in univariable analysis.
23687089	Mutation	T Acute Lymphoblastic Leukemia	An early immature gene expression signature, the absence of bi-allelic TCRG deletion, CD13 surface expression, heterozygous deletions of the short arm of chromosome 17, and mutations in IDH1/IDH2 and DNMT3A genes are associated with poor prognosis in this series. Conversely, mutations in IDH1/IDH2 and DNMT3A were specifically associated with poor outcome in early immature adult T-ALLs.
23681562	Mutation	Anaplastic Oligodendroglioma	IDH1/IDH2 mutations occurred in 23/43 (54 %) patients: 20/43 IDH1-R132H mutation in IHC, 2/43 IDH1-R132G mutation and 1/43 IDH2-R172K mutation identified by DNA sequencing.
23640996	Mutation (gain of function)	Acute Myeloid Leukemia	In particular, we focus on the role of loss-of-function mutations in TET2, gain-of-function mutations in IDH1 and IDH2, and loss-of-function mutations in ASXL1 and mutations of unclear impact in DNMT3A in AML pathogenesis and therapy.
23613835	Mutation	Acute Myeloid Leukemia	There were no differences in the incidence of mutation in 13 genes, ASXL1, CBL, c-KIT, DNMT3A, FLT3, IDH1, IDH2, MLL, NPM1, NRAS, RUNX1, TET2, and WT1, between patients with and without EZH2 mutations.
23613680	Mutation	Acute Myeloid Leukemia	A somatic mutation in IDH2 was detected in these 2 patients.
23598960	Mutation	Chondrogenic Neoplasm	Cartilaginous neoplasms have recently been shown to frequently (56%) harbor gene mutations in the metabolic enzymes isocitrate dehydrogenase 1 (IDH1) and IDH2 (IDH1>IDH2), whereas other mesenchymal tumors lack these genetic aberrations.
23532369	Mutation	Glioma	IDH1 and IDH2 mutations in gliomas. Gliomas with mutated IDH1 and IDH2 have improved prognosis compared with gliomas with wild-type IDH.
23524262	Mutation	Glioma; Chondrogenic Neoplasm; Acute Myeloid Leukemia	Isocitrate dehydrogenase 2 (IDH2) mutations have been detected in gliomas, cartilaginous tumors, and acute myeloid leukemias. IDH2 mutations are specific to a single codon in the conserved and functionally important Arginine 172 (R172) or Arginine 140 (R140).
23485734	Mutation	Spindle Cell Hemangioma	The R132C IDH1 mutation was identified by hydrolysis probes assay and confirmed by Sanger sequencing in 18 of 28 (64%) SCHs; of the 10 negative cases, 2 harbored a mutation in IDH2 (R172T and R172M) by Sanger sequencing. In conclusion, 20 of 28 (71%) SCHs harbored mutations in exon 4 of IDH1 or IDH2.
23393090	Mutation	Leukemia	Mutations in IDH1 and IDH2, the genes coding for isocitrate dehydrogenases 1 and 2, are common in several human cancers, including leukemias, and result in overproduction of the (R)-enantiomer of 2-hydroxyglutarate [(R)-2HG].
23365461	Mutation	Childhood Acute Myeloid Leukemia	Two patients carried ASXL1 mutations, both with t(8;21), 2 had DNMT3A mutations, 2 had IDH1 mutations, 1 had IDH2 mutation, and 3 had TET2 mutations.
23330999	Mutation	Grade II Glioma	Conversely, IDH1/IDH2 mutations were found in all 11 (100%) of the insular Grade II gliomas but only 20 (55%) of 36 paralimbic Grade II gliomas (p = 0.008).
23318457	Mutation	Intrahepatic Cholangiocarcinoma	Recent data have revealed specific genetic mutations (for example, KRAS, IDH1 and IDH2), epigenetic silencing, aberrant signaling pathway activation (for example, interleukin (IL)-6/signal transducer and activator of transcription 3 (STAT3), tyrosine kinase receptor-related pathways) and molecular subclasses with unique alterations (for example, proliferation and inflammation subclasses).
23307057	Mutation	Grade II Glioma; WHO Grade III Glioma; Glioblastoma, IDH-Mutant	Mutations in isocitrate dehydrogenase -1 or -2 (IDH1 or IDH2) are found in the majority of WHO grade II and III diffuse gliomas and secondary glioblastomas.
23298878	Mutation	Polycythemia Vera; Essential Thrombocythemia	Mutations associated with disease progression such as isocitrate dehydrogenase (IDH) 1, IDH2, EZH2, serine/arginine-rich splicing factor 2 (SRSF2), p53, casitas B-lineage lymphoma (c-CBL), ikaros zinc fingers (IKZF), neurofibromin 1 (NF1) and runt-related transcription factor 1 (RUNX1) are described.
23232569	Mutation	Glioma; Leukemia	Heterozygous hotspot mutations in isocitrate dehydrogenases (IDH) IDH1 or IDH2 are frequently observed in specific types of cartilaginous tumors, gliomas, and leukemias.
23109653	Mutation	Glioma	The recent discovery of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) mutations in glioma has provided reproducible prognostic biomarkers and novel therapeutic targets.
23074281	Mutation	Acute Myeloid Leukemia	Mutations of genes encoding isocitrate dehydrogenase (IDH1 and IDH2) have been recently described in acute myeloid leukemia (AML).
23071531	Mutation	Anaplastic Oligodendroglioma	Studies have identified several molecular abnormalities with clinical or biological relevance to AOD (e.g. t(1;19)(q10;p10), IDH1, IDH2, CIC and FUBP1 mutations).To better characterize the clinical and biological behavior of this tumor type, the creation of a national multicentric network, named Prise en charge des OLigodendrogliomes Anaplasiques (POLA), has been supported by the Institut National du Cancer (InCA).
23039322	Mutation	Acute Myeloid Leukemia	IDH1(mut) and IDH2(mut) were mutually exclusive, detected in 8.5% and 7.5% of cases, respectively.
22929312	Mutation	Acute Myeloid Leukemia	We developed a new combination of high-resolution melting assays on a LightCycler 480 and direct sequencing to detect somatic mutations of ASXL1 (exon 12), IDH1 (exon 4), IDH2 (exon 4), and c-CBL (exons 8 and 9) genes to know their incidence and prognostic effect in a cohort of 175 patients with de novo AML: 16 patients (9%) carried ASXL1 mutations, 16 patients had IDH variations (3% with IDH1(R132) and 6% with IDH2(R140)), and none had c-CBL mutations.
22922872	Mutation	Glioma; Oligodendroglial Tumor; Astrocytoma	After stratifying by histological and tumor genetic subtype, the most significant associations of rs55705857 were with oligodendroglial tumors and gliomas with mutant IDH1 or IDH2 (odds ratio (OR)=5.1, P=1.1×10(-31) and OR=4.8, P=6.6×10(-22), respectively). Strong associations were observed for astrocytomas with mutated IDH1 or IDH2 (grades 2-4) (OR=5.16-6.66, P=4.7×10(-12) to 2.2×10(-8)) but not for astrocytomas with wild-type IDH1 and IDH2 (smallest P=0.26).
22917530	Mutation	Acute Myeloid Leukemia	IDH1/IDH2 mutations are heterozygous, and their combined frequency is approximately 17% in unselected acute myeloid leukemia cases, 27% in cytogenetically normal acute myeloid leukemia cases, and up to 67% in acute myeloid leukemia cases with cuplike nuclei. All known mutations involve arginine (R), in codon 132 of IDH1 or codon 140 or 172 of IDH2. IDH1(R132) and IDH2(R140) mutations are frequently accompanied by normal cytogenetics and NPM1 mutation, whereas IDH2(R172) is frequently the only mutation detected in acute myeloid leukemia.
22899282	Mutation	Glioma; Acute Myeloid Leukemia; Chondroma	Monoallelic point mutations of the NADP(+)-dependent isocitrate dehydrogenases IDH1 and IDH2 occur frequently in gliomas, acute myeloid leukemias, and chondromas, and display robust association with specific DNA hypermethylation signatures.
22890969	Mutation	Low Grade Glioma	Although IDH mutations (IDH1 or IDH2) are recorded in up to 85 % of low-grade gliomas, IDH negative gliomas do occur.
22886134	Mutation	Grade II Glioma; WHO Grade III Glioma; Glioblastoma; Childhood Astrocytoma; Childhood Anaplastic Astrocytoma; Childhood Pilocytic Astrocytoma	Using sequencing and/or immunohistochemical analyses, we investigated ATRX alterations (mutation/loss of expression) and their association with TP53 and IDH1 or IDH2 mutations in 140 adult WHO grade II, III and IV gliomas, 17 pediatric WHO grade II and III astrocytomas and 34 pilocytic astrocytomas.
22823977	Mutation	Myelodysplastic Syndrome; Myeloproliferative Neoplasm; Chronic Myelomonocytic Leukemia; Acute Myeloid Leukemia	Mutations responsible for these diseases occur in several genes whose encoded proteins belong principally to five classes: signaling pathways proteins (e.g. CBL, FLT3, JAK2, RAS), transcription factors (e.g. CEBPA, ETV6, RUNX1), epigenetic regulators (e.g. ASXL1, DNMT3A, EZH2, IDH1, IDH2, SUZ12, TET2, UTX), tumor suppressors (e.g. TP53), and components of the spliceosome (e.g. SF3B1, SRSF2).
22789312	Mutation	Grade II Glioma; WHO Grade III Glioma; Glioblastoma, IDH-Mutant	IDH1 and IDH2 mutations are frequent in diffuse grade II and grade III gliomas and in secondary glioblastomas.
22781800	Mutation	Acute Myeloid Leukemia	The mutations of IDH1 and IDH2 gene at exon 4, NPM1 gene at exon 12 and FLT3-ITD at exon 14 and 15 in 163 newly diagnosed AML patients were detected by PCR amplification followed by direct sequencing of genomic DNA. IDH mutations were found in 25 patients (25/163), and all were heterozygous, of which IDH1 in 7 patients (4.29%) and IDH2 in 18 (11.04%). Both IDH1 and IDH2 mutation were detected in one patient, while IDH1 was synonymous substitution (c.315C→T). The incidence of IDH mutation is higher in patients with de novo AMLs, of which IDH2 mutation more frequently, and the patients associated with older age, normal karyotype at diagnosis.
22763442	Mutation	Glioblastoma; Acute Myeloid Leukemia	Mutations in the IDH1 and IDH2 genes encoding isocitrate dehydrogenases are frequently found in human glioblastomas and cytogenetically normal acute myeloid leukaemias (AML).
22712628	Mutation	Myelodysplastic Syndrome; Acute Myeloid Leukemia	Recent findings of mutated IDH1, IDH2, DNMT3A or TET2 in myelodysplastic syndrome/acute myeloid leukaemia patients underscore this notion, and point to the importance of epigenetic changes for developing tumour cells.
22672632	Mutation	Extraventricular Neurocytoma	From our study, we concluded that EVNs were characterized by the absence of p53 overexpression, α-internexin positivity, MGMT promotor methylation and IDH1/IDH2 mutation.
22617234	Mutation	Diffuse Glioma	Different molecular biomarkers were identified by genetic studies and some of these are used in neuro-oncology for the evaluation of glioma patients, in particular combined deletions of the chromosome arms 1p and 19q in oligodendroglial tumors, methylation status of the O-6 methylguanine- DNA methyltransferase gene promoter and alterations in the epidermal growth factor receptor pathway in adult malignant gliomas, isocitrate dehydrogenase 1 (IDH1) and IDH2 gene mutations in diffuse gliomas, as well as BRAF status in pilocytic astrocytomas.
22616558	Mutation	Acute Myeloid Leukemia	Recurrent mutations of isocitrate dehydrogenase isoforms 1 and 2 (IDH1 and IDH2) have recently been studied in adult patients with acute myeloid leukemia (AML).
22507776	Mutation	Acute Myeloid Leukemia	Nonetheless, mutations in DNMT3A, TET2, and ASXL1 are emerging as important adverse prognosticators in subsets of patients with AML independent of FLT3 mutations whereas mutations in IDH2 at residue 140 are potential predictors of improved outcome in AML.
22520341	Mutation	Acute Myeloid Leukemia	IDH1 and IDH2 mutations are common genetic alterations in normal karyotype AML.
22494415	Mutation	Acute Myeloid Leukemia	IDH2 mutations are frequent in Chinese patients with acute myeloid leukemia and associated with NPM1 mutations and FAB-M2 subtype. There was a strong association of IDH2 mutation with NPM1 mutations and a trend with FLT3-internal-tandem duplication.
22489043	Mutation	Myeloproliferative Neoplasm	Mutations in the other genes were rare (CBL, DNMT3A, IDH2, MPL, SF3B1, SUZ12, NF1) or absent (IDH1).
22417203	Mutation	Acute Myeloid Leukemia	We found that internal tandem duplication in FLT3 (FLT3-ITD), partial tandem duplication in MLL (MLL-PTD), and mutations in ASXL1 and PHF6 were associated with reduced overall survival (P=0.001 for FLT3-ITD, P=0.009 for MLL-PTD, P=0.05 for ASXL1, and P=0.006 for PHF6); CEBPA and IDH2 mutations were associated with improved overall survival (P=0.05 for CEBPA and P=0.01 for IDH2).
22397365	Mutation	Acute Myeloid Leukemia	Acquired somatic mutations of IDH1 and IDH2 have recently been reported in some types of brain tumors and a small proportion of acute myeloid leukemia (AML) cases. The prevalence of IDH1 and IDH2 mutations was 8.7% (20/230) and 10.4% (24/230), respectively. Two missense mutations were found in IDH2-mutated cases; p.R140Q (n = 20) and p.R172K (n = 4).
22395470	Mutation	Leukemia	In contrast, only 1/30 patient had a mutation in IDH1 or IDH2, and none of them had a mutation in DNMT3A in the sites most frequently mutated in leukemia.
22385606	Mutation	Glioma; Leukemia; Acute Lymphoblastic Leukemia; Childhood Acute Lymphoblastic Leukemia; Oral Cavity Squamous Cell Carcinoma	Mutations of IDH1 and IDH2 have been identified in patients with glioma, leukemia, and other cancers. In ALL, the allele frequency was 3.23% in both IDH1 and IDH2. In OSCC, the allele frequency was 2.22% in IDH2. A synonymous mutation over pG313 (c.939A>G) of IDH2 was found in both pediatric ALL and adult OSCC.
22343901	Mutation	Glioma; Acute Myeloid Leukemia; Chondrosarcoma	Recurrent mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 have been identified in gliomas, acute myeloid leukaemias (AML) and chondrosarcomas, and share a novel enzymatic property of producing 2-hydroxyglutarate (2HG) from α-ketoglutarate.
22343896	Mutation	Brain Neoplasm; Leukemia	IDH1 and IDH2, which catalyse the interconversion of isocitrate and 2-OG, are frequently mutated in human brain tumours and leukaemias.
22338155	Mutation	Acute Myeloid Leukemia	Two patients with IDH2 mutation were also with normal karyotype. IDH2 mutations were in older patients at diagnosis.
22323113	Mutation	Central Chondrosarcoma; Periosteal Chondrosarcoma	Recently, in an examination of various types of mesenchymal tumor, IDH1/2 mutations were only found in cartilaginous tumors including central conventional and periosteal enchondromas/chondrosarcomas. Also, an IDH2 mutation (R172S) was observed in one case.
22309944	Mutation	Low Grade Glioma	The identification of heterozygous mutations (with an incidence up to 85%) in either the R132 residue of isocitrate dehydrogenase-1 (IDH1) or the R172 residue of IDH2 in human low-grade diffuse gliomas was remarkable because no oncogenic pathway had been previously documented correlated with these enzymes.
22289497	Mutation	Myelodysplastic Syndrome; Acute Myeloid Leukemia	Identification of recurrent mutations in potential epigenetic regulators, including TET2, IDH1, IDH2, DNMT3A, UTX, and ASXL1, were recently described.
22287028	Mutation	Grade II Glioma; WHO Grade III Glioma	MGMT promoter hypermethylation was significantly associated with IDH1/IDH2 mutations (P = 0.0207) in grade II–III tumors, whereas it had a borderline association with 1p deletion (P = 0.0538) in oligodendrogliomas.
22281806	Mutation	Grade II Glioma; WHO Grade III Glioma	Mutations in isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2) have been shown to be present in most World Health Organization grade 2 and grade 3 gliomas in adults.
22217666	Mutation	Diffuse Astrocytoma	IDH1 or IDH2 mutation was present in 63 (80%) patients who on average were younger than patients without IDH1/2 mutation (40 vs. 47 years, p=0.0331, t-test).
22215888	Mutation	Angioimmunoblastic T-Cell Lymphoma; Grade II Glioma; WHO Grade III Glioma; Glioblastoma, IDH-Mutant; Acute Myeloid Leukemia	IDH2 mutations are frequent in angioimmunoblastic T-cell lymphoma. Mutations in isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) occur in most grade 2 and 3 gliomas, secondary glioblastomas, and a subset of acute myelogenous leukemias but have not been detected in other tumor types. IDH2 mutations were identified in approximately 20% of angioimmunoblastic T-cell lymphomas (AITLs), but not in other peripheral T-cell lymphoma entities.
22180306	Mutation	Intrahepatic Cholangiocarcinoma	Combining these cohorts of biliary cancers, mutations in IDH1 and IDH2 were found only in cholangiocarcinomas of intrahepatic origin (nine of 40, 23%) and in none of the 22 extrahepatic cholangiocarcinomas and none of the 25 gallbladder carcinomas.
22170482	Mutation	Myeloproliferative Neoplasm	Recent advances in genomic technologies have led to the discovery of mutations in a number of epigenetic modifiers in patients with MPNs, including mutations in TET2, ASXL1, IDH1, IDH2, and EZH2.
22162831	Mutation	T Acute Lymphoblastic Leukemia	Many adult immature T-ALLs harbored mutations in myeloid-specific oncogenes and tumor suppressors including IDH1, IDH2, DNMT3A, FLT3, and NRAS.
22147457	Mutation	Grade II Glioma; Anaplastic Oligoastrocytoma; Glioblastoma, IDH-Mutant	IDH1 and IDH2 mutations have been frequently found in some types of gliomas (low-grade diffuse gliomas WHO grade II, anaplastic gliomas WHO grade III, and secondary glioblastomas WHO grade IV), and have received significant attention because of their specificity to single codons.
22136423	Mutation	Malignant Glioma	Mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 are found frequently in malignant gliomas and are likely involved in early gliomagenesis. Mutations of IDH1 and IDH2 were found in 73 (29%) and 2 (1%) cases, respectively.
22080945	Mutation	Glioma	Altered cancer cell metabolism in gliomas with mutant IDH1 or IDH2.
22077061	Mutation	Acute Myeloid Leukmemia	DNMT3A mutations were positively associated with older age, higher WBC and platelet counts, intermediate-risk and normal cytogenetics, FLT3 internal tandem duplication, and NPM1, PTPN11, and IDH2 mutations, but were negatively associated with CEBPA mutations.
22034964	Mutation	Glioblastoma, IDH-Mutant	IDH (IDH1 or IDH2) mutations were found in 58/79 patients (73.4%).
22020636	Mutation	Acute Myeloid Leukemia	IDH1 and IDH2 gene mutations are novel, recurring molecular aberrations among patients with normal karyotype acute myeloid leukemia (AML). IDH1 and IDH2 mutations were present in 12 (7%) and 24 (14%) of patients, and IDH1 G105 SNP in 24 (14%).
22015945	Mutation	Primary Brain Neoplasm	Mutations of the isocitrate dehydrogenase 1 and 2 genes (IDH1 and IDH2) are commonly found in primary brain cancers.
22002076	Mutation	Glioma	Point mutations of IDH1 and IDH2 have been discovered in gliomas.
21997850	Mutation	Acute Myeloid Leukemia; Myelodysplastic Syndrome	The somatic mutations of isocitrate dehydrogenase genes (IDH1 and IDH2) have been identified in a proportion of hematologic malignancies. IDH1 and IDH2 mutations were found in four (2.0%) and ten (5.0%) AML and in two (2.4%) and three (3.6%) MDS cases, but not in other patients.
21937695	Mutation	Acute Myeloid Leukemia	High BRE expression was mutually exclusive with FLT3 ITD, CEBPA, IDH1, and IDH2 mutations, EVI1 overexpression, and favorable karyotypes.
21913188	Mutation	Glioma	Mutated IDH1 or IDH2 protein leads to the generation of excessive amounts of the metabolite 2-hydroxyglutarate (2HG) in tumor cells.
21889780	Mutation	Glioma	Finally, OMICS have identified recurrent IDH1/IDH2 mutations with prognostic significance in glial tumors and five single nucleotide polymorphisms associated with susceptibility to gliomas (e.g. TERT, CCDC26, PHLDB1, RTEL1 and CDKN2A/CDKN2B).
21889610	Mutation	Acute Myeloid Leukemia	Isocitrate dehydrogenase 1 (IDH1) and IDH2 mutations and polymorphism are reported in 5% to 15% of acute myeloid leukemia (AML) cases, with G105 and R132 of IDH1 and R140 and R172 of IDH2 known to be clinically significant.
21885076	Mutation	Glioma	IDH1/IDH2 mutations are associated with genomic profile, being present in nearly all the 1p19q codeleted gliomas, and virtually absent in gliomas with EGFR amplification. IDH1/IDH2 mutation results in a new enzymatic activity transforming α-ketoglutarate into 2-hydroxyglutarate (2-HG).
21881046	Mutation	Acute Myeloid Leukemia	To evaluate the prognostic value of genetic mutations for acute myeloid leukemia (AML) patients, we examined the gene status for both fusion products such as AML1 (CBFα)-ETO, CBFβ-MYH11, PML-RARα, and MLL rearrangement as a result of chromosomal translocations and mutations in genes including FLT3, C-KIT, N-RAS, NPM1, CEBPA, WT1, ASXL1, DNMT3A, MLL, IDH1, IDH2, and TET2 in 1185 AML patients. We revealed a correlation pattern among NPM1, DNMT3A, FLT3, IDH1, IDH2, CEBPA, and TET2 mutations.
21874255	Mutation	Glioma	Mutations in the isocitrate dehydrogenase 1 and 2 genes (IDH1 and IDH2) appear to occur frequently and selectively in gliomas. In this study IDH1 and IDH2 mutations were detected in a series of 203 gliomas. IDH1 mutations were present in 75 of the 203 cases (36.9%) while IDH2 mutations in 5 of the 203 cases (2.5%).
21647154	Mutation	Acute Myeloid Leukemia	Somatic IDH1/IDH2 mutations were rare in ALL (N=1), but were more common in AML, occurring in 3.5% (IDH1 N=3 and IDH2 N=5), with the frequency higher in AMLs with a normal karyotype (9.8%).
21647152	Mutation	Acute Myeloid Leukemia	Mutations in the NADP(+)-dependent isocitrate dehydrogenase genes 1 and 2 (IDH1 and IDH2) have recently been found in adult acute myeloid leukemia (AML) patients with a prevalence rising up to 33%.
21646683	Mutation	Myeloproliferative Neoplasm	Other mutation events as MPL, TET2, LNK, EZH2 have been described in chronic phase, while NF1, IDH1, IDH2, ASX1, CBL and Ikaros in blast phase of MPN.
21643842	Mutation	Anaplastic Oligodendroglioma	A c.515G>T (p.R172M) mutation of the IDH2 gene was only identified in a grade II oligodendroglioma patient which was wild-type for IDH1.
21598255	Mutation	Central Chondrosarcoma; Enchondroma; Periosteal Chondroma	IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours. Somatic mutations in isocitrate dehydrogenase 1 (IDH1) and IDH2 occur in gliomas and acute myeloid leukaemia (AML). Heterozygous somatic IDH1/IDH2 mutations, which result in the production of a potential oncometabolite, 2-hydroxyglutarate, were only detected in central and periosteal cartilaginous tumours, and were found in at least 56% of these, 40% of which were represented by R132C.
21596855	Mutation	Acute Myeloid Leukemia	An IDH2 mutation was present in 148 cases (10%), 80% at R140 and 20% at R172.
21504050	Mutation	Acute Myeloid Leukemia	Mutations in the DNMT3A, TET2, IDH1, and IDH2 genes carry prognostic significance and occur frequently in adult acute myeloid leukemia (AML).
21481010	Mutation	Diffused Glioma	Recently, mutations in IDH1 and IDH2 have been reported as an early and common genetic alteration in diffuse gliomas, being possibly followed by 1p/19q loss in oligodendrogliomas and TP53 mutations in astrocytomas.
21343879	Mutation	Glioma	IDH2 mutations are rare, but they also occur in gliomas.
21343560	Mutation	Acute Myeloid Leukemia	RUNX1 mutations were associated with MLL-partial tandem duplications (P = .0007) and IDH1/IDH2 mutations (P = .03), inversely correlated with NPM1 (P < .0001), and in trend with CEBPA (P = .10) mutations.
21340513	Mutation	Myelodysplastic Syndrome	Newly elucidated molecular abnormalities in MDS include mutations in CBL, TET2, ASXL1, IDH1/IDH2, EZH2, DNMT3A, and UTX.
21326614	Mutation	Glioma	Gliomas frequently contain mutations in the cytoplasmic NADP(+)-dependent isocitrate dehydrogenase (IDH1) or the mitochondrial NADP(+)-dependent isocitrate dehydrogenase (IDH2).
21314850	Mutation	Ganglioglioma	Eight cases (8.2%) were positive for R132H IDH1 mutations; six had silent IDH2 mutations and two had nonsense IDH2 mutations.
21294161	Mutation	Glioma; Acute Myeloid Leukemia	Mutations in the genes encoding IDH1 and IDH2 were first reported in human gliomas in 2008 and later on also identified in a minority of patients with acute myeloid leukemia.
21289278	Mutation	Glioma	Point mutations of the NADP(+)-dependent isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2) occur early in the pathogenesis of gliomas.
21284999	Mutation	Low Grade Glioma	A recent cancer genome-sequencing project revealed that more than 70% of low-grade gliomas bear mutations in one of two NAD(+)-dependent isocitrate dehydrogenase enzymes, namely, IDH1 and IDH2.
21246521	Mutation	Anaplastic Oligodendroglioma	INA immunohistochemistry expression in tumors from 92 patients who were included in the EORTC 26951 trial was analyzed independently by 2 observers and was correlated with relevant clinical characteristics, including progression-free survival (PFS) and overall survival (OS), and with molecular features, including 1p/19q codeletion, isocitrate dehydrogenase 1 and 2 gene (IDH1/IDH2) mutation, and O-6 methylguanine-DNA methyltransferase (MGMT) promoter methylation status.
21225914	Mutation	Malignant Glioma; Myeloid Leukemia	Elevated levels of D-2-hydroxyglutarate have been demonstrated with malignant gliomas and myeloid leukemias associated with somatic mutations of the genes encoding NADP(+)-dependent isocitrate dehydrogenases (IDH1 and IDH2, respectively).
21173122	Mutation	Acute Myeloid Leukemia	Mutations in the isocitrate dehydrogenase 1 (IDH1) and IDH2 genes are reported in acute myeloid leukemia (AML). Point mutations in IDH1(R) were detected in 12 (6.0%) of 199 cases and in IDH2(R) in 4 (2.0%) of 196 cases.
21080178	Mutation	Grade II Glioma	A total of 38 IDH1 mutations at codon 132 and 2 IDH2 mutations at codon 172 were found, including 35 R132H (87.5%), 2 R132C (5.0%), 1 R132S (2.5%) and 2 R172 M (5%).
21079611	Mutation	Acute Myeloid Leukemia	Although the clinical features of the Isocitrate dehydrogenase 2 (IDH2) mutation in acute myeloid leukemia (AML) have been characterized, its prognostic significance remains controversial and its stability has not been investigated. In conclusion, IDH2 mutation is a stable marker during disease evolution and confers favorable prognosis.
21069360	Mutation	Oligodendroglioma	Three oligodendrogliomas with neurocytic differentiation had evidence of IDH1/IDH2 mutations either by H09 immunohistochemistry or direct sequencing.
20975057	Mutation	Low Grade Glioma	IDH (IDH1 or IDH2) mutations were found in 132/189 patients (70%).
20962328	Mutation	Malignant Glioma; Acute Myeloid Leukemia	Recurrent somatic mutations in the isocitrate dehydrogenase 1 (IDH1) and IDH2 genes that result in the accumulation of D-2-hydroxyglutarate (D-2-HG) have been identified in malignant gliomas and in acute myeloid leukemia (AML).
20946881	Mutation	Acute Myeloid Leukemia; Glioma	IDH1 and IDH2 mutations are frequent in Chinese patients with acute myeloid leukemia but rare in other types of hematological disorders. Frequent mutations in the isocitrate dehydrogenase 1 and 2 genes (IDH1 and IDH2) have been identified in gliomas and acute myeloid leukemia (AML). We found three missense (p.R132C, p.R132G, and p.I99M; occurred in five patients) and one silent mutation (c.315C>T; occurred in two patients) in the IDH1 gene and two missense mutations (p.R140Q and p.R172K; occurred in four AML patients) and one silent mutation (c.435G>A) in the IDH2 gene. The frequency of IDH1 and IDH2 missense mutations in Chinese AML patients reached 5.9% and 8.3%, respectively.
20847279	Mutation	Glioma	Mutations of both the IDH1 and IDH2 (isocitratedehydrogenase enzyme 1 and 2) genes have recently been described in cases of human glioma.
20847235	Mutation	Neoplastic Syndrome	Heterozygous somatic mutations in the genes encoding isocitrate dehydrogenase-1 and -2 (IDH1 and IDH2) were recently discovered in human neoplastic disorders. We have detected heterozygous germline mutations in IDH2 that alter enzyme residue Arg(140) in 15 unrelated patients with d-2-hydroxyglutaric aciduria (D-2-HGA), a rare neurometabolic disorder characterized by supraphysiological levels of D-2-HG.
22966399	Mutation	Glioma; Acute Myeloid Leukemia	Somatic mutations of isocitrate dehydrogenase (IDH)-1 and IDH2 proteins have been described in gliomas. The same mutations were observed in acute myeloid leukemias with normal karyotype, but a new mutation in IDH2 (R140Q substitution) was detected in malignant myeloid diseases and appears to be the most frequent IDH mutation in these pathologies.
20678218	Mutation	Acute Myeloid Leukemia	Mutations in FLT3 (mutation and internal tandem duplication), IDH1, IDH2, NPM1 and WT1 occurred primarily in AMLs.
20625116	Mutation	Acute Myeloid Leukemia	Recently, whole-genome sequencing in acute myeloid leukemia (AML) identified recurrent isocitrate dehydrogenase enzyme isoform (IDH1) mutations (IDH1m), previously reported to be involved in gliomas as well as IDH2 mutations (IDH2m).
20615753	Mutation	Glioma	Mutations in a homologous gene, IDH2, have also been identified, although they are much rarer. IDH1 and IDH2 mutations are early events in the development of gliomas. Molecularly, IDH1 and IDH2 mutations are heterozygous, affect only a single codon, and rarely occur together.
20567020	Mutation	Acute Myeloid Leukemia	IDH1 and IDH2 mutations are frequent genetic alterations in acute myeloid leukemia and confer adverse prognosis in cytogenetically normal acute myeloid leukemia with NPM1 mutation without FLT3 internal tandem duplication. IDH mutations were found in 129 patients (16.0%) -IDH1 in 61 patients (7.6%), and IDH2 in 70 patients (8.7%).
20538800	Mutation	Acute Myeloid Leukemia	Somatic mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) were recently demonstrated in acute myeloid leukemia (AML), but their prevalence and prognostic impact remain to be explored in large extensively characterized AML series, and also in various other hematologic malignancies. Thus, IDH1 and IDH2 mutations are common genetic aberrations in AML, and IDH1 mutations may carry prognostic value in distinct subtypes of AML.
20510884	Mutation	Glioma	Heterozygous mutations in either the R132 residue of isocitrate dehydrogenase I (IDH1) or the R172 residue of IDH2 in human gliomas were recently highlighted. The IDH1 and IDH2 mutations are relevant to the progression of gliomas, the prognosis and treatment of the patients with gliomas harboring the mutation.
20465388	Mutation	Diffuse Glioma	1p19q codeletion, O(6)-methylguanine DNA methyltransferase (MGMT) status, and mutations of isocitrate dehydrogenases 1 and 2 (IDH1/IDH2) are currently the three most pertinent markers in diffuse gliomas.
20431032	Mutation	Diffuse Glioma; Glioblastoma	IDH1 and IDH2 mutations were detected in 72% of lower grade diffuse gliomas and in 17% of glioblastomas.
20427748	Mutation	Glioma	This 100% mutation rate contrasted strikingly with other gliomas exhibiting either variable 1p and 19q alterations (n = 159, IDH1/IDH2 mutation rate of 33%) or no 1p19q alteration (n = 477, IDH1/IDH2 mutation rate 32%). Our data also confirm the prognostic impact of IDH1/IDH2 mutation in gliomas whatever grade considered: patients harboring mutations of IDH1/IDH2 have an improved median overall survival.
20421455	Mutation	Acute Myeloid Leukemia; Myeloproliferative Neoplasm	Mutations in the nicotinamide adenine dinucleotide phosphate(+)-dependent isocitrate dehydrogenase gene 2 (IDH2) have recently been found in patients with acute myeloid leukemia (AML) as well as in patients with leukemic transformation of myeloproliferative neoplasms. IDH2 mutations of amino acid 140 or 172 could be identified in 12.1% of CN-AML patients, with the majority of mutations (90%) occurring at position R140. In conclusion, IDH2 mutations are frequently found in CN-AML, but in our analysis these mutations did not influence treatment outcome.
20368543	Mutation	Acute Myeloid Leukemia	IDH2 mutations, previously unreported in AML, were detected in 69 patients (19%; 13 with R172 and 56 with R140). CONCLUSION IDH1 and IDH2 mutations are recurrent in CN-AML and have an unfavorable impact on outcome.
20171178	Mutation	Glioblastoma	Mutations in the genes for isocitrate dehydrogenase 1 (IDH1) and isocitrate dehydrogenase 2 (IDH2) have been recently identified in glioblastoma.
20171147	Mutation	Leukemia	The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate.
20131059	Mutation	Glioma; Diffuse Astrocytoma; Oligodendroglioma	Diffusely infiltrating cerebral gliomas frequently carry point mutations in codon 132 of the isocitrate dehydrogenase 1 (IDH1) gene or in codon 172 of the IDH2 gene, which are both clinically important as diagnostic and prognostic markers.

Summary
Symbol	IDH2
Name	isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
Aliases	D2HGA2; ICD-M; IDHM; IDPM; mNADP-IDH; Isocitrate dehydrogenase [NADP], mitochondrial
Location	15q26.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Post-translational modification (PTM)

> Post-translational modification (PTM)

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Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
P48735	48	K	N6-acetyllysine	-	No	None detected
P48735	67	K	N6-acetyllysine	-	No	None detected
P48735	69	K	N6-acetyllysine	-	No	None detected
P48735	80	K	N6-acetyllysine	-	No	None detected
P48735	80	K	N6-succinyllysine	-	No	None detected
P48735	106	K	N6-acetyllysine	-	No	None detected
P48735	106	K	N6-succinyllysine	-	No	None detected
P48735	155	K	N6-acetyllysine	-	No	None detected
P48735	166	K	N6-acetyllysine	-	No	None detected
P48735	166	K	N6-succinyllysine	-	No	None detected
P48735	180	K	N6-acetyllysine	-	No	None detected
P48735	180	K	N6-succinyllysine	-	No	None detected
P48735	193	K	N6-acetyllysine	-	No	None detected
P48735	193	K	N6-succinyllysine	-	No	None detected
P48735	199	K	N6-acetyllysine	-	No	None detected
P48735	256	K	N6-acetyllysine	-	No	None detected
P48735	256	K	N6-succinyllysine	-	No	None detected
P48735	263	K	N6-acetyllysine	-	No	None detected
P48735	272	K	N6-acetyllysine	-	No	None detected
P48735	275	K	N6-acetyllysine	-	No	None detected
P48735	280	K	N6-acetyllysine	-	No	None detected
P48735	282	K	N6-acetyllysine	-	No	None detected
P48735	282	K	N6-succinyllysine	-	No	None detected
P48735	384	K	N6-acetyllysine	-	No	None detected
P48735	384	K	N6-succinyllysine	-	No	None detected
P48735	400	K	N6-acetyllysine	-	No	None detected
P48735	413	K	N6-acetyllysine	-	No	None detected
P48735	442	K	N6-acetyllysine	-	No	None detected

Summary
Symbol	IDH2
Name	isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
Aliases	D2HGA2; ICD-M; IDHM; IDPM; mNADP-IDH; Isocitrate dehydrogenase [NADP], mitochondrial
Location	15q26.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Expression analysis in primary tumor tissue from TCGA > Expression level in cancer cell line from CCLE > Expression level in human normal tissue from HPA > Text mining based expression change

> The Cancer Genome Atlas (TCGA)

[ TOP ]

Differential expression analysis for cancers with more than 10 normal samples

Cancer	Full Name	# N	# T	Median (N)	Median (T)	LogFC	Adj. P	Status
BLCA	Bladder urothelial carcinoma	19	408	6.909	7.187	0.329	0.0877	NS
BRCA	Breast invasive carcinoma	112	1100	6.15	7.51	1.328	3.98e-46	Over
CESC	Cervical and endocervical cancers	3	306	5.803	7.748	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	7.553	7.942	0.383	0.00246	NS
ESCA	Esophageal carcinoma	11	185	8.224	6.666	-1.172	0.00022	Under
GBM	Glioblastoma multiforme	5	166	6.763	7.093	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	7.654	6.988	-0.911	5.39e-14	Under
KIRC	Kidney renal clear cell carcinoma	72	534	8.46	7.165	-1.09	3.23e-30	Under
KIRP	Kidney renal papillary cell carcinoma	32	291	8.584	7.003	-1.557	1.3e-16	Under
LAML	Acute Myeloid Leukemia	0	173	NA	7.042	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	7.037	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	8.297	7.6	-0.776	3.27e-08	Under
LUAD	Lung adenocarcinoma	59	517	5.849	6.938	1.098	1.19e-24	Over
LUSC	Lung squamous cell carcinoma	51	501	5.978	7.177	1.298	8.41e-33	Over
OV	Ovarian serous cystadenocarcinoma	0	307	NA	7.435	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	6.976	6.363	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	3.245	4.786	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	7.507	7.606	0.159	0.049	NS
READ	Rectum adenocarcinoma	10	167	7.635	7.85	0.205	0.47	NS
SARC	Sarcoma	2	263	8.269	6.691	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	6.945	6.295	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	7.642	7.073	-0.424	0.00932	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	5.96	NA	NA	NA
THCA	Thyroid carcinoma	59	509	4.917	5.431	0.459	2.73e-07	NS
THYM	Thymoma	2	120	7.688	8.046	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	5.862	7.935	2.08	1.14e-36	Over

> Cancer Cell Line Encyclopedia (CCLE)

[ TOP ]

Tissue	Cell Line	Expression Level (Microarray)
Autonomic ganglia	CHP126	10.7
Autonomic ganglia	CHP212	9.1
Autonomic ganglia	IMR32	11.3
Autonomic ganglia	KELLY	10.3
Autonomic ganglia	KPNRTBM1	11.2
Autonomic ganglia	KPNSI9S	8.3
Autonomic ganglia	KPNYN	11.2
Autonomic ganglia	MHHNB11	10.9
Autonomic ganglia	NB1	10.4
Autonomic ganglia	NH6	10.7
Autonomic ganglia	SHSY5Y	10.4
Autonomic ganglia	SIMA	10.9
Autonomic ganglia	SKNAS	8.9
Autonomic ganglia	SKNBE2	11
Autonomic ganglia	SKNDZ	11.2
Autonomic ganglia	SKNFI	9.1
Autonomic ganglia	SKNSH	9.5
Biliary tract	HUCCT1	8.6
Biliary tract	HUH28	9.8
Biliary tract	SNU1079	9.3
Biliary tract	SNU1196	10.1
Biliary tract	SNU245	11.5
Biliary tract	SNU308	9.4
Biliary tract	SNU478	9.5
Bone	143B	8.8
Bone	A673	10.3
Bone	CADOES1	9.5
Bone	CAL78	7.2
Bone	G292CLONEA141B1	9.9
Bone	HOS	9.7
Bone	HS706T	8.7
Bone	HS737T	9.4
Bone	HS819T	9
Bone	HS821T	8.9
Bone	HS822T	9.2
Bone	HS863T	9
Bone	HS870T	9.2
Bone	HS888T	9.1
Bone	MG63	9
Bone	MHHES1	9.8
Bone	OUMS27	9.5
Bone	RDES	10
Bone	SJSA1	9.6
Bone	SKES1	10.6
Bone	SKNMC	11.7
Bone	SW1353	8.8
Bone	T173	9.2
Bone	TC71	9.5
Bone	U2OS	8.7
Breast	AU565	11.3
Breast	BT20	10.8
Breast	BT474	11.4
Breast	BT483	12.5
Breast	BT549	9.4
Breast	CAL120	8.5
Breast	CAL148	12.2
Breast	CAL51	9.4
Breast	CAL851	11.3
Breast	CAMA1	10.9
Breast	DU4475	11.2
Breast	EFM192A	11.2
Breast	EFM19	11.1
Breast	EVSAT	11.5
Breast	HCC1143	11
Breast	HCC1187	11.3
Breast	HCC1395	11.2
Breast	HCC1419	11.1
Breast	HCC1428	9.8
Breast	HCC1500	10.5
Breast	HCC1569	10.4
Breast	HCC1599	12.2
Breast	HCC1806	7.4
Breast	HCC1937	9.8
Breast	HCC1954	10.2
Breast	HCC202	12
Breast	HCC2157	11.8
Breast	HCC2218	11.6
Breast	HCC38	11.6
Breast	HCC70	11.5
Breast	HDQP1	10.1
Breast	HMC18	7.9
Breast	HS274T	8.8
Breast	HS281T	9.1
Breast	HS343T	9.3
Breast	HS578T	11.2
Breast	HS606T	9.5
Breast	HS739T	9.9
Breast	HS742T	9.5
Breast	JIMT1	10.1
Breast	KPL1	11.6
Breast	MCF7	11.6
Breast	MDAMB134VI	9.7
Breast	MDAMB157	9.7
Breast	MDAMB175VII	11.3
Breast	MDAMB231	7.8
Breast	MDAMB361	11.5
Breast	MDAMB415	10.1
Breast	MDAMB436	10.5
Breast	MDAMB453	9
Breast	MDAMB468	10.3
Breast	SKBR3	11.5
Breast	T47D	11.8
Breast	UACC812	11
Breast	UACC893	11.3
Breast	YMB1	12.1
Breast	ZR751	11.4
Breast	ZR7530	11.9
Central nervous system	1321N1	9.1
Central nervous system	42MGBA	10.1
Central nervous system	8MGBA	7.6
Central nervous system	A172	9.8
Central nervous system	AM38	9
Central nervous system	BECKER	10
Central nervous system	CAS1	9.3
Central nervous system	CCFSTTG1	9.9
Central nervous system	D283MED	8.1
Central nervous system	D341MED	7.3
Central nervous system	DAOY	9
Central nervous system	DBTRG05MG	10.6
Central nervous system	DKMG	8.7
Central nervous system	GAMG	9.3
Central nervous system	GB1	9.7
Central nervous system	GI1	10
Central nervous system	GMS10	10.5
Central nervous system	GOS3	10.9
Central nervous system	H4	9.2
Central nervous system	HS683	10
Central nervous system	KALS1	10.3
Central nervous system	KG1C	8
Central nervous system	KNS42	8.8
Central nervous system	KNS60	9.6
Central nervous system	KNS81	10.2
Central nervous system	KS1	6.4
Central nervous system	LN18	8.4
Central nervous system	LN229	9.4
Central nervous system	M059K	9.9
Central nervous system	MOGGCCM	10
Central nervous system	MOGGUVW	8.4
Central nervous system	NMCG1	9.8
Central nervous system	ONS76	8.7
Central nervous system	SF126	9.7
Central nervous system	SF295	8.7
Central nervous system	SNB19	8.9
Central nervous system	SNU1105	9.3
Central nervous system	SNU201	10
Central nervous system	SNU466	10.1
Central nervous system	SNU489	8.8
Central nervous system	SNU626	10.8
Central nervous system	SNU738	9
Central nervous system	SW1088	9.5
Central nervous system	SW1783	10.4
Central nervous system	T98G	10.9
Central nervous system	TM31	10.2
Central nervous system	U118MG	8
Central nervous system	U138MG	10.2
Central nervous system	U251MG	8.8
Central nervous system	U87MG	9
Central nervous system	YH13	9.2
Central nervous system	YKG1	8.7
Endometrium	AN3CA	10.7
Endometrium	COLO684	11.4
Endometrium	EFE184	7.1
Endometrium	EN	8.9
Endometrium	ESS1	9.6
Endometrium	HEC108	10.4
Endometrium	HEC151	8.1
Endometrium	HEC1A	8.7
Endometrium	HEC1B	10.1
Endometrium	HEC251	9.1
Endometrium	HEC265	9.5
Endometrium	HEC50B	9.7
Endometrium	HEC59	7.9
Endometrium	HEC6	9.1
Endometrium	ISHIKAWAHERAKLIO02ER	9.5
Endometrium	JHUEM1	11.4
Endometrium	JHUEM2	10.5
Endometrium	JHUEM3	9.7
Endometrium	KLE	9.2
Endometrium	MFE280	9.5
Endometrium	MFE296	10.2
Endometrium	MFE319	9.1
Endometrium	RL952	10.4
Endometrium	SNGM	10.2
Endometrium	SNU1077	9.9
Endometrium	SNU685	9.2
Endometrium	TEN	10.5
Haematopoietic and lymphoid	697	11.8
Haematopoietic and lymphoid	A3KAW	11.2
Haematopoietic and lymphoid	A4FUK	9.1
Haematopoietic and lymphoid	ALLSIL	12.4
Haematopoietic and lymphoid	AML193	10.7
Haematopoietic and lymphoid	AMO1	5.8
Haematopoietic and lymphoid	BCP1	5.1
Haematopoietic and lymphoid	BDCM	10.8
Haematopoietic and lymphoid	BL41	9.1
Haematopoietic and lymphoid	BL70	9.9
Haematopoietic and lymphoid	BV173	11.3
Haematopoietic and lymphoid	CA46	8.9
Haematopoietic and lymphoid	CI1	9.4
Haematopoietic and lymphoid	CMK115	10.7
Haematopoietic and lymphoid	CMK86	11.3
Haematopoietic and lymphoid	CMK	11.2
Haematopoietic and lymphoid	CMLT1	11.1
Haematopoietic and lymphoid	COLO775	11.4
Haematopoietic and lymphoid	DAUDI	9.3
Haematopoietic and lymphoid	DB	8
Haematopoietic and lymphoid	DEL	8.3
Haematopoietic and lymphoid	DND41	11.6
Haematopoietic and lymphoid	DOHH2	11.3
Haematopoietic and lymphoid	EB1	10.1
Haematopoietic and lymphoid	EB2	10.1
Haematopoietic and lymphoid	EHEB	9.8
Haematopoietic and lymphoid	EJM	10.2
Haematopoietic and lymphoid	EM2	9.8
Haematopoietic and lymphoid	EOL1	11.3
Haematopoietic and lymphoid	F36P	9.9
Haematopoietic and lymphoid	GA10	9.6
Haematopoietic and lymphoid	GDM1	11.1
Haematopoietic and lymphoid	GRANTA519	11
Haematopoietic and lymphoid	HDLM2	10.9
Haematopoietic and lymphoid	HDMYZ	8.9
Haematopoietic and lymphoid	HEL9217	10.4
Haematopoietic and lymphoid	HEL	10.7
Haematopoietic and lymphoid	HH	9.1
Haematopoietic and lymphoid	HL60	11.2
Haematopoietic and lymphoid	HPBALL	12.6
Haematopoietic and lymphoid	HS604T	9.6
Haematopoietic and lymphoid	HS611T	10.5
Haematopoietic and lymphoid	HS616T	9.1
Haematopoietic and lymphoid	HS751T	8.7
Haematopoietic and lymphoid	HT	8.9
Haematopoietic and lymphoid	HTK	9
Haematopoietic and lymphoid	HUNS1	11
Haematopoietic and lymphoid	HUT102	8.8
Haematopoietic and lymphoid	HUT78	10.7
Haematopoietic and lymphoid	JEKO1	12
Haematopoietic and lymphoid	JK1	9.5
Haematopoietic and lymphoid	JM1	11.2
Haematopoietic and lymphoid	JURKAT	12.3
Haematopoietic and lymphoid	JURLMK1	10.8
Haematopoietic and lymphoid	JVM2	11
Haematopoietic and lymphoid	JVM3	10.1
Haematopoietic and lymphoid	K562	11
Haematopoietic and lymphoid	KARPAS299	9.1
Haematopoietic and lymphoid	KARPAS422	10.1
Haematopoietic and lymphoid	KARPAS620	11.7
Haematopoietic and lymphoid	KASUMI1	10.6
Haematopoietic and lymphoid	KASUMI2	11.4
Haematopoietic and lymphoid	KASUMI6	10.9
Haematopoietic and lymphoid	KCL22	10.4
Haematopoietic and lymphoid	KE37	11.6
Haematopoietic and lymphoid	KE97	10.8
Haematopoietic and lymphoid	KG1	10.9
Haematopoietic and lymphoid	KHM1B	10.6
Haematopoietic and lymphoid	KIJK	5.1
Haematopoietic and lymphoid	KMH2	8.3
Haematopoietic and lymphoid	KMM1	6.9
Haematopoietic and lymphoid	KMS11	7.9
Haematopoietic and lymphoid	KMS12BM	5.6
Haematopoietic and lymphoid	KMS18	11.1
Haematopoietic and lymphoid	KMS20	11.2
Haematopoietic and lymphoid	KMS21BM	7.9
Haematopoietic and lymphoid	KMS26	8.1
Haematopoietic and lymphoid	KMS27	4.9
Haematopoietic and lymphoid	KMS28BM	10.9
Haematopoietic and lymphoid	KMS34	10.3
Haematopoietic and lymphoid	KO52	10.8
Haematopoietic and lymphoid	KOPN8	12.3
Haematopoietic and lymphoid	KU812	10.9
Haematopoietic and lymphoid	KYO1	10.6
Haematopoietic and lymphoid	L1236	9.9
Haematopoietic and lymphoid	L363	4.5
Haematopoietic and lymphoid	L428	10.4
Haematopoietic and lymphoid	L540	8.5
Haematopoietic and lymphoid	LAMA84	10.1
Haematopoietic and lymphoid	LOUCY	10.7
Haematopoietic and lymphoid	LP1	8.6
Haematopoietic and lymphoid	M07E	11.3
Haematopoietic and lymphoid	MC116	9.7
Haematopoietic and lymphoid	ME1	11.8
Haematopoietic and lymphoid	MEC1	10
Haematopoietic and lymphoid	MEC2	9.4
Haematopoietic and lymphoid	MEG01	8.6
Haematopoietic and lymphoid	MHHCALL2	12.1
Haematopoietic and lymphoid	MHHCALL3	11.7
Haematopoietic and lymphoid	MHHCALL4	11.3
Haematopoietic and lymphoid	MINO	11.6
Haematopoietic and lymphoid	MJ	5.4
Haematopoietic and lymphoid	MM1S	11.6
Haematopoietic and lymphoid	MOLM13	10.7
Haematopoietic and lymphoid	MOLM16	9.9
Haematopoietic and lymphoid	MOLM6	11.1
Haematopoietic and lymphoid	MOLP2	9.6
Haematopoietic and lymphoid	MOLP8	6.5
Haematopoietic and lymphoid	MOLT13	11.3
Haematopoietic and lymphoid	MOLT16	11.9
Haematopoietic and lymphoid	MOLT4	11.6
Haematopoietic and lymphoid	MONOMAC1	11.1
Haematopoietic and lymphoid	MONOMAC6	10.5
Haematopoietic and lymphoid	MOTN1	11.6
Haematopoietic and lymphoid	MUTZ5	11.2
Haematopoietic and lymphoid	MV411	11.9
Haematopoietic and lymphoid	NALM19	11.8
Haematopoietic and lymphoid	NALM1	11.5
Haematopoietic and lymphoid	NALM6	11.8
Haematopoietic and lymphoid	NAMALWA	10.2
Haematopoietic and lymphoid	NB4	10.8
Haematopoietic and lymphoid	NCIH929	11.5
Haematopoietic and lymphoid	NCO2	10.2
Haematopoietic and lymphoid	NOMO1	11.1
Haematopoietic and lymphoid	NUDHL1	10
Haematopoietic and lymphoid	NUDUL1	10.6
Haematopoietic and lymphoid	OCIAML2	11.2
Haematopoietic and lymphoid	OCIAML3	10.2
Haematopoietic and lymphoid	OCIAML5	10.9
Haematopoietic and lymphoid	OCILY10	9.2
Haematopoietic and lymphoid	OCILY19	11.6
Haematopoietic and lymphoid	OCILY3	11.7
Haematopoietic and lymphoid	OCIM1	10.5
Haematopoietic and lymphoid	OPM2	10.9
Haematopoietic and lymphoid	P12ICHIKAWA	12.1
Haematopoietic and lymphoid	P31FUJ	11.1
Haematopoietic and lymphoid	P3HR1	8.9
Haematopoietic and lymphoid	PCM6	7.6
Haematopoietic and lymphoid	PEER	11.4
Haematopoietic and lymphoid	PF382	12.5
Haematopoietic and lymphoid	PFEIFFER	9.9
Haematopoietic and lymphoid	PL21	10.7
Haematopoietic and lymphoid	RAJI	8.8
Haematopoietic and lymphoid	RCHACV	12.2
Haematopoietic and lymphoid	REC1	10
Haematopoietic and lymphoid	REH	11.6
Haematopoietic and lymphoid	RI1	12.1
Haematopoietic and lymphoid	RL	9.2
Haematopoietic and lymphoid	RPMI8226	11
Haematopoietic and lymphoid	RPMI8402	11.2
Haematopoietic and lymphoid	RS411	12.1
Haematopoietic and lymphoid	SEM	11.8
Haematopoietic and lymphoid	SET2	10.9
Haematopoietic and lymphoid	SIGM5	10.6
Haematopoietic and lymphoid	SKM1	11.5
Haematopoietic and lymphoid	SKMM2	9.7
Haematopoietic and lymphoid	SR786	4.9
Haematopoietic and lymphoid	ST486	11.4
Haematopoietic and lymphoid	SUDHL10	11.6
Haematopoietic and lymphoid	SUDHL1	8.4
Haematopoietic and lymphoid	SUDHL4	11.2
Haematopoietic and lymphoid	SUDHL5	8.3
Haematopoietic and lymphoid	SUDHL6	10.3
Haematopoietic and lymphoid	SUDHL8	10.3
Haematopoietic and lymphoid	SUPB15	10.5
Haematopoietic and lymphoid	SUPHD1	7.2
Haematopoietic and lymphoid	SUPM2	6.3
Haematopoietic and lymphoid	SUPT11	10.5
Haematopoietic and lymphoid	SUPT1	11.8
Haematopoietic and lymphoid	TALL1	11.5
Haematopoietic and lymphoid	TF1	8.7
Haematopoietic and lymphoid	THP1	11.3
Haematopoietic and lymphoid	TO175T	9.1
Haematopoietic and lymphoid	TOLEDO	11.2
Haematopoietic and lymphoid	U266B1	8.6
Haematopoietic and lymphoid	U937	11.5
Haematopoietic and lymphoid	UT7	9.7
Haematopoietic and lymphoid	WSUDLCL2	11.3
Kidney	769P	10
Kidney	786O	10
Kidney	A498	11
Kidney	A704	8.3
Kidney	ACHN	10
Kidney	BFTC909	10.2
Kidney	CAKI1	9.8
Kidney	CAKI2	9.5
Kidney	CAL54	9.8
Kidney	KMRC1	10.1
Kidney	KMRC20	10.9
Kidney	KMRC2	11.2
Kidney	KMRC3	9.3
Kidney	OSRC2	10.2
Kidney	RCC10RGB	9.8
Kidney	SNU1272	9.2
Kidney	SNU349	9.9
Kidney	TUHR10TKB	8.5
Kidney	TUHR14TKB	11.4
Kidney	TUHR4TKB	9.4
Kidney	VMRCRCW	9.5
Kidney	VMRCRCZ	10.1
Large intestine	C2BBE1	7.4
Large intestine	CCK81	10.2
Large intestine	CL11	8.9
Large intestine	CL14	10.2
Large intestine	CL34	11.4
Large intestine	CL40	9.3
Large intestine	COLO205	11.6
Large intestine	COLO320	9.4
Large intestine	COLO678	10.5
Large intestine	CW2	9.4
Large intestine	DLD1	8.7
Large intestine	GP2D	11.2
Large intestine	HCC56	11.1
Large intestine	HCT116	7.7
Large intestine	HCT15	10
Large intestine	HS675T	9
Large intestine	HS698T	8.4
Large intestine	HT115	10.9
Large intestine	HT29	10.9
Large intestine	HT55	10.9
Large intestine	KM12	11.3
Large intestine	LOVO	10
Large intestine	LS1034	10.5
Large intestine	LS123	8.1
Large intestine	LS180	11.5
Large intestine	LS411N	11
Large intestine	LS513	10.9
Large intestine	MDST8	8.7
Large intestine	NCIH508	9.6
Large intestine	NCIH716	9.2
Large intestine	NCIH747	8.3
Large intestine	OUMS23	10.7
Large intestine	RCM1	10.6
Large intestine	RKO	7.5
Large intestine	SKCO1	8.7
Large intestine	SNU1040	9.9
Large intestine	SNU1197	8.2
Large intestine	SNU175	10
Large intestine	SNU283	11.9
Large intestine	SNU407	10.1
Large intestine	SNU503	9.1
Large intestine	SNU61	11.8
Large intestine	SNU81	8.1
Large intestine	SNUC1	10.9
Large intestine	SNUC2A	8.8
Large intestine	SNUC4	10.8
Large intestine	SNUC5	8.2
Large intestine	SW1116	9.4
Large intestine	SW1417	9.1
Large intestine	SW1463	11.2
Large intestine	SW403	12.2
Large intestine	SW480	8.9
Large intestine	SW48	9
Large intestine	SW620	9.1
Large intestine	SW837	8.6
Large intestine	SW948	10.9
Large intestine	T84	10.9
Liver	ALEXANDERCELLS	10
Liver	C3A	10.5
Liver	HEP3B217	10.5
Liver	HEPG2	10.6
Liver	HLE	8.4
Liver	HLF	9.5
Liver	HUH1	9.8
Liver	HUH6	9.7
Liver	HUH7	10.8
Liver	JHH1	9.7
Liver	JHH2	8.8
Liver	JHH4	10.1
Liver	JHH5	9.3
Liver	JHH6	8.1
Liver	JHH7	10
Liver	LI7	11.4
Liver	PLCPRF5	10
Liver	SKHEP1	8.4
Liver	SNU182	9.1
Liver	SNU387	8.2
Liver	SNU398	8
Liver	SNU423	8.4
Liver	SNU449	9.6
Liver	SNU475	10.3
Liver	SNU761	11.1
Liver	SNU878	10.3
Liver	SNU886	10.1
Lung	A549	8.1
Lung	ABC1	11.1
Lung	BEN	10.3
Lung	CAL12T	9.1
Lung	CALU1	7.2
Lung	CALU3	10
Lung	CALU6	9
Lung	CHAGOK1	8.7
Lung	COLO668	11.4
Lung	COLO699	7.8
Lung	CORL105	10.5
Lung	CORL23	7.6
Lung	CORL24	10
Lung	CORL279	11.9
Lung	CORL311	10.8
Lung	CORL47	10.7
Lung	CORL51	10.4
Lung	CORL88	10.6
Lung	CORL95	11.5
Lung	CPCN	11
Lung	DMS114	10.9
Lung	DMS153	10.7
Lung	DMS273	10.2
Lung	DMS454	11.1
Lung	DMS53	11.9
Lung	DMS79	10.7
Lung	DV90	9.8
Lung	EBC1	6.2
Lung	EPLC272H	8.5
Lung	HARA	7.8
Lung	HCC1171	8
Lung	HCC1195	9.6
Lung	HCC15	9.1
Lung	HCC2279	8.3
Lung	HCC2935	9.5
Lung	HCC33	12.1
Lung	HCC366	7.9
Lung	HCC4006	9.2
Lung	HCC44	8.6
Lung	HCC78	8.5
Lung	HCC827	7.2
Lung	HCC95	8.6
Lung	HLC1	9
Lung	HLFA	9.6
Lung	HS229T	9.7
Lung	HS618T	9.1
Lung	IALM	6
Lung	KNS62	8.7
Lung	LC1F	9
Lung	LC1SQSF	8.3
Lung	LCLC103H	8.6
Lung	LCLC97TM1	8.4
Lung	LK2	10.6
Lung	LOUNH91	10.1
Lung	LU65	9.4
Lung	LU99	8
Lung	LUDLU1	9.4
Lung	LXF289	7.6
Lung	MORCPR	11.9
Lung	NCIH1048	10.6
Lung	NCIH1092	9.9
Lung	NCIH1105	9.7
Lung	NCIH1155	10
Lung	NCIH1184	10.8
Lung	NCIH1299	7.5
Lung	NCIH1339	7.8
Lung	NCIH1341	10.9
Lung	NCIH1355	8.7
Lung	NCIH1373	6.6
Lung	NCIH1385	10.9
Lung	NCIH1395	10.9
Lung	NCIH1435	10.7
Lung	NCIH1436	10.1
Lung	NCIH1437	10.7
Lung	NCIH146	10.2
Lung	NCIH1563	10.1
Lung	NCIH1568	10.1
Lung	NCIH1573	9.5
Lung	NCIH1581	9.4
Lung	NCIH1618	10.6
Lung	NCIH1623	8.5
Lung	NCIH1648	8.9
Lung	NCIH1650	9.8
Lung	NCIH1651	9.9
Lung	NCIH1666	9
Lung	NCIH1693	10.2
Lung	NCIH1694	10.7
Lung	NCIH1703	8.7
Lung	NCIH1734	9.9
Lung	NCIH1755	9
Lung	NCIH1781	9.7
Lung	NCIH1792	9.8
Lung	NCIH1793	8.2
Lung	NCIH1836	10.7
Lung	NCIH1838	10.1
Lung	NCIH1869	9.5
Lung	NCIH1876	10.1
Lung	NCIH1915	8.1
Lung	NCIH1930	10
Lung	NCIH1944	9.8
Lung	NCIH1963	11
Lung	NCIH196	11.2
Lung	NCIH1975	9.7
Lung	NCIH2009	7.8
Lung	NCIH2023	8.8
Lung	NCIH2029	11
Lung	NCIH2030	10.5
Lung	NCIH2066	10.6
Lung	NCIH2081	11
Lung	NCIH2085	8.4
Lung	NCIH2087	9.1
Lung	NCIH209	11.7
Lung	NCIH2106	11.4
Lung	NCIH2110	8.6
Lung	NCIH211	11.3
Lung	NCIH2122	9.8
Lung	NCIH2126	10.4
Lung	NCIH2141	11
Lung	NCIH2170	8
Lung	NCIH2171	11.5
Lung	NCIH2172	8.2
Lung	NCIH2196	9.4
Lung	NCIH2227	10.7
Lung	NCIH2228	9.3
Lung	NCIH226	8
Lung	NCIH2286	8.6
Lung	NCIH2291	8.2
Lung	NCIH2342	11.9
Lung	NCIH2347	9.1
Lung	NCIH23	8.3
Lung	NCIH2405	8.9
Lung	NCIH2444	9.2
Lung	NCIH292	8.5
Lung	NCIH322	9.2
Lung	NCIH3255	10
Lung	NCIH358	8.7
Lung	NCIH441	8
Lung	NCIH446	10.9
Lung	NCIH460	8.1
Lung	NCIH510	10.7
Lung	NCIH520	9.6
Lung	NCIH522	10.1
Lung	NCIH524	11.7
Lung	NCIH526	11.1
Lung	NCIH596	9.5
Lung	NCIH647	8.7
Lung	NCIH650	7.6
Lung	NCIH661	9.6
Lung	NCIH69	11.2
Lung	NCIH727	9.6
Lung	NCIH810	11.3
Lung	NCIH82	8.9
Lung	NCIH838	10.1
Lung	NCIH841	9.9
Lung	NCIH854	8.7
Lung	NCIH889	9.6
Lung	PC14	9.8
Lung	RERFLCAD1	9.3
Lung	RERFLCAD2	8.5
Lung	RERFLCAI	8.4
Lung	RERFLCKJ	10.1
Lung	RERFLCMS	8.7
Lung	RERFLCSQ1	10.4
Lung	SBC5	10.2
Lung	SCLC21H	11.4
Lung	SHP77	12.1
Lung	SKLU1	9.4
Lung	SKMES1	8.2
Lung	SQ1	8.3
Lung	SW1271	8.8
Lung	SW1573	9.3
Lung	SW900	9.2
Lung	VMRCLCD	10.7
Lung	VMRCLCP	10.4
Oesophagus	COLO680N	10.4
Oesophagus	ECGI10	7.6
Oesophagus	KYSE140	9.4
Oesophagus	KYSE150	9.6
Oesophagus	KYSE180	8
Oesophagus	KYSE270	9.4
Oesophagus	KYSE30	9.2
Oesophagus	KYSE410	6.6
Oesophagus	KYSE450	9.6
Oesophagus	KYSE510	8.7
Oesophagus	KYSE520	7.8
Oesophagus	KYSE70	7.2
Oesophagus	OE19	10
Oesophagus	OE33	9.1
Oesophagus	TE10	9.2
Oesophagus	TE11	7.9
Oesophagus	TE14	8.2
Oesophagus	TE15	9
Oesophagus	TE1	10.2
Oesophagus	TE4	10.7
Oesophagus	TE5	9.8
Oesophagus	TE6	10.9
Oesophagus	TE8	10.6
Oesophagus	TE9	8
Oesophagus	TT	10.8
Ovary	59M	9.2
Ovary	A2780	9.3
Ovary	CAOV3	10.1
Ovary	CAOV4	9.6
Ovary	COLO704	9.8
Ovary	COV318	8.6
Ovary	COV362	8.8
Ovary	COV434	9.5
Ovary	COV504	9.5
Ovary	COV644	9.7
Ovary	EFO21	7.4
Ovary	EFO27	10.8
Ovary	ES2	8.6
Ovary	FUOV1	10
Ovary	HEYA8	8.1
Ovary	HS571T	8.8
Ovary	IGROV1	9
Ovary	JHOC5	8.5
Ovary	JHOM1	10.4
Ovary	JHOM2B	10.9
Ovary	JHOS2	9
Ovary	JHOS4	11.7
Ovary	KURAMOCHI	8.9
Ovary	MCAS	8.6
Ovary	NIHOVCAR3	7.5
Ovary	OAW28	9.5
Ovary	OAW42	9
Ovary	OC314	9.4
Ovary	OC316	8.8
Ovary	ONCODG1	9.1
Ovary	OV56	9.5
Ovary	OV7	10.4
Ovary	OV90	5
Ovary	OVCAR4	11.1
Ovary	OVCAR8	8.5
Ovary	OVISE	9
Ovary	OVK18	10.3
Ovary	OVKATE	9.3
Ovary	OVMANA	6.9
Ovary	OVSAHO	9.7
Ovary	OVTOKO	9.9
Ovary	RMGI	9.8
Ovary	RMUGS	9.6
Ovary	SKOV3	9.6
Ovary	SNU119	11
Ovary	SNU840	8.9
Ovary	SNU8	9.6
Ovary	TOV112D	10.2
Ovary	TOV21G	10.8
Ovary	TYKNU	9.5
Pancreas	ASPC1	8.6
Pancreas	BXPC3	8.8
Pancreas	CAPAN1	9.9
Pancreas	CAPAN2	9.1
Pancreas	CFPAC1	9.5
Pancreas	DANG	9
Pancreas	HPAC	7
Pancreas	HPAFII	9.3
Pancreas	HS766T	9
Pancreas	HUPT3	8.4
Pancreas	HUPT4	9.9
Pancreas	KCIMOH1	7.1
Pancreas	KLM1	8.3
Pancreas	KP2	10
Pancreas	KP3	8.8
Pancreas	KP4	8.6
Pancreas	L33	8.2
Pancreas	MIAPACA2	9.6
Pancreas	PANC0203	8.2
Pancreas	PANC0213	8.4
Pancreas	PANC0327	9
Pancreas	PANC0403	9.8
Pancreas	PANC0504	10.2
Pancreas	PANC0813	9.7
Pancreas	PANC1005	8
Pancreas	PANC1	10.1
Pancreas	PATU8902	8.6
Pancreas	PATU8988S	9.4
Pancreas	PATU8988T	8.4
Pancreas	PK1	7.3
Pancreas	PK45H	8.3
Pancreas	PK59	7.9
Pancreas	PL45	8
Pancreas	PSN1	7.1
Pancreas	QGP1	11
Pancreas	SNU213	8.9
Pancreas	SNU324	7.1
Pancreas	SNU410	7.6
Pancreas	SU8686	9.3
Pancreas	SUIT2	7.5
Pancreas	SW1990	9.2
Pancreas	T3M4	7.5
Pancreas	TCCPAN2	9.6
Pancreas	YAPC	10.4
Pleura	ACCMESO1	9.5
Pleura	DM3	8.7
Pleura	ISTMES1	8.4
Pleura	ISTMES2	8.4
Pleura	JL1	7
Pleura	MPP89	9.8
Pleura	MSTO211H	7.8
Pleura	NCIH2052	8.1
Pleura	NCIH2452	7.5
Pleura	NCIH28	10.8
Prostate	22RV1	9.2
Prostate	DU145	9.1
Prostate	LNCAPCLONEFGC	10.6
Prostate	MDAPCA2B	9.9
Prostate	NCIH660	10.9
Prostate	PC3	9.1
Prostate	VCAP	11.5
Salivary gland	A253	8.8
Salivary gland	YD15	8.1
Skin	A101D	8
Skin	A2058	9
Skin	A375	8.3
Skin	C32	8.2
Skin	CHL1	10
Skin	CJM	8.2
Skin	COLO679	8.5
Skin	COLO741	9.9
Skin	COLO783	9.9
Skin	COLO792	9.2
Skin	COLO800	10.2
Skin	COLO818	9.3
Skin	COLO829	9
Skin	COLO849	10.1
Skin	G361	7.8
Skin	GRM	8.8
Skin	HMCB	9.7
Skin	HS294T	8.5
Skin	HS600T	8.7
Skin	HS688AT	10.1
Skin	HS695T	9.6
Skin	HS839T	9.2
Skin	HS852T	9.4
Skin	HS895T	9.4
Skin	HS934T	8.9
Skin	HS936T	10.1
Skin	HS939T	8.7
Skin	HS940T	9.1
Skin	HS944T	7.9
Skin	HT144	9.1
Skin	IGR1	7.9
Skin	IGR37	10.6
Skin	IGR39	8.7
Skin	IPC298	8.4
Skin	K029AX	8.7
Skin	LOXIMVI	7.2
Skin	MALME3M	9.3
Skin	MDAMB435S	9.6
Skin	MELHO	8.8
Skin	MELJUSO	9.4
Skin	MEWO	8.5
Skin	RPMI7951	8.7
Skin	RVH421	9
Skin	SH4	8
Skin	SKMEL1	9
Skin	SKMEL24	8.3
Skin	SKMEL28	9.3
Skin	SKMEL2	8.1
Skin	SKMEL30	9.3
Skin	SKMEL31	8.9
Skin	SKMEL3	10.8
Skin	SKMEL5	8.7
Skin	UACC257	8.9
Skin	UACC62	8.7
Skin	WM115	9.7
Skin	WM1799	10
Skin	WM2664	8.9
Skin	WM793	9
Skin	WM88	8.5
Skin	WM983B	8.7
Small intestine	HUTU80	9.6
Soft tissue	A204	9.5
Soft tissue	G401	8.4
Soft tissue	G402	10.9
Soft tissue	GCT	7.9
Soft tissue	HS729	8.7
Soft tissue	HT1080	7.8
Soft tissue	KYM1	8.4
Soft tissue	MESSA	10
Soft tissue	RD	9.3
Soft tissue	RH30	10.7
Soft tissue	RH41	10.8
Soft tissue	RKN	9.7
Soft tissue	S117	7.9
Soft tissue	SJRH30	10.4
Soft tissue	SKLMS1	8.8
Soft tissue	SKUT1	9.6
Soft tissue	TE125T	8.4
Soft tissue	TE159T	8.1
Soft tissue	TE441T	9.1
Soft tissue	TE617T	9.4
Stomach	2313287	8.9
Stomach	AGS	8.5
Stomach	AZ521	9.4
Stomach	ECC10	12.1
Stomach	ECC12	10.4
Stomach	FU97	12
Stomach	GCIY	9.9
Stomach	GSS	10.4
Stomach	GSU	11.2
Stomach	HGC27	9.9
Stomach	HS746T	8.3
Stomach	HUG1N	10
Stomach	IM95	11.3
Stomach	KATOIII	10.4
Stomach	KE39	10.1
Stomach	LMSU	9
Stomach	MKN1	7
Stomach	MKN45	9
Stomach	MKN74	8.4
Stomach	MKN7	9.6
Stomach	NCCSTCK140	10
Stomach	NCIN87	8.4
Stomach	NUGC2	8.7
Stomach	NUGC3	7.8
Stomach	NUGC4	8.3
Stomach	OCUM1	10.3
Stomach	RERFGC1B	10
Stomach	SH10TC	8.7
Stomach	SNU16	11.3
Stomach	SNU1	9
Stomach	SNU216	10.3
Stomach	SNU520	11.1
Stomach	SNU5	9.3
Stomach	SNU601	9.5
Stomach	SNU620	9.5
Stomach	SNU668	10.1
Stomach	SNU719	10.1
Stomach	TGBC11TKB	9.3
Thyroid	8305C	10.2
Thyroid	8505C	8.1
Thyroid	BCPAP	9.5
Thyroid	BHT101	7.1
Thyroid	CAL62	10.6
Thyroid	CGTHW1	9.8
Thyroid	FTC133	10.1
Thyroid	FTC238	7.5
Thyroid	ML1	9.5
Thyroid	SW579	9.7
Thyroid	TT2609C02	9.2
Thyroid	TT	10.4
Upper aerodigestive tract	BHY	8.1
Upper aerodigestive tract	BICR16	9.7
Upper aerodigestive tract	BICR18	10.1
Upper aerodigestive tract	BICR22	8.5
Upper aerodigestive tract	BICR31	8.5
Upper aerodigestive tract	BICR56	7.4
Upper aerodigestive tract	BICR6	9.6
Upper aerodigestive tract	CAL27	9.4
Upper aerodigestive tract	CAL33	9.3
Upper aerodigestive tract	DETROIT562	8.5
Upper aerodigestive tract	FADU	9.1
Upper aerodigestive tract	HS840T	8.6
Upper aerodigestive tract	HSC2	7.9
Upper aerodigestive tract	HSC3	6.4
Upper aerodigestive tract	HSC4	10.3
Upper aerodigestive tract	PECAPJ15	9
Upper aerodigestive tract	PECAPJ34CLONEC12	8.2
Upper aerodigestive tract	PECAPJ41CLONED2	8.5
Upper aerodigestive tract	PECAPJ49	8.6
Upper aerodigestive tract	SCC15	8.3
Upper aerodigestive tract	SCC25	9.1
Upper aerodigestive tract	SCC4	8.2
Upper aerodigestive tract	SCC9	7.4
Upper aerodigestive tract	SNU1076	9.7
Upper aerodigestive tract	SNU1214	9.7
Upper aerodigestive tract	SNU46	8.4
Upper aerodigestive tract	SNU899	10
Upper aerodigestive tract	YD10B	8.8
Upper aerodigestive tract	YD38	7.4
Upper aerodigestive tract	YD8	9.9
Urinary tract	5637	10.8
Urinary tract	639V	9.5
Urinary tract	647V	8.3
Urinary tract	BC3C	7.5
Urinary tract	BFTC905	8.6
Urinary tract	CAL29	10.3
Urinary tract	HS172T	8
Urinary tract	HT1197	8.5
Urinary tract	HT1376	8.9
Urinary tract	J82	9.8
Urinary tract	JMSU1	9
Urinary tract	KMBC2	9.7
Urinary tract	KU1919	10
Urinary tract	RT11284	8.7
Urinary tract	RT112	10.1
Urinary tract	RT4	10.2
Urinary tract	SCABER	7.8
Urinary tract	SW1710	10.4
Urinary tract	SW780	9.8
Urinary tract	T24	9.1
Urinary tract	TCCSUP	9.4
Urinary tract	UMUC1	8
Urinary tract	UMUC3	8.3
Urinary tract	VMCUB1	9.3

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Expression Level (TPM)
Adipose tissue	37.1
Adrenal gland	13.8
Appendix	82.3
Bone marrow	99.3
Breast	62.9
Cerebral cortex	101
Cervix, uterine	51.6
Colon	92.4
Duodenum	100.3
Endometrium	41.8
Epididymis	15
Esophagus	154.1
Fallopian tube	52.2
Gallbladder	49.8
Heart muscle	207.7
Kidney	155.1
Liver	89.8
Lung	47.5
Lymph node	88.3
Ovary	16.8
Pancreas	20.5
Parathyroid gland	74.6
Placenta	122.9
Prostate	115.4
Rectum	93.9
Salivary gland	71.9
Seminal vesicle	125.5
Skeletal muscle	450.2
Skin	66.3
Small intestine	96.1
Smooth muscle	112.1
Spleen	49.9
Stomach	121.4
Testis	10.5
Thyroid gland	25.8
Tonsil	62.5
Urinary bladder	75.6

> Text Mining based Expression

[ TOP ]

PMID	Expression	Cancer	Evidence
28401022	Overexpression	Oesophagal Squamous Cell Carcinoma	The protein expression level of IDH2 was significantly upregulated in ESCC tissues (IHC, Western blotting, all P<0.001) despite no significant difference at mRNA expression level (P>0.05).
23226729	Overexpression	Endometrial Carcinoma; Prostate Carcinoma; Testicular Cancer; Osteochondroma	The overexpression of IDH2 has been reported in endometrial, prostate and testicular cancer as well as in Kashin-Beck disease.
25098926	Underexpression	Gastric Carcinoma	The expressions of TET1, TET2, TET3, TDG and IDH2, but not IDH1, were notably decreased in GCs, compared with the adjacent non-tumor portion. The loss of 5-hmC and the down-regulation of TET1-3, TDG and IDH2 were found in GCs.
27649069	Overexpression	Lung Carcinoma	IDH2 mRNA was higher in peripheral blood lymphocytes from lung cancer patients compared to healthy subjects.
27466503	Underexpression	Gastric Carcinoma	We further examined the expression levels of IDH1 and IDH2 in gastric cancer tissues and observed that IDH2 levels were significantly lower in gastric cancer tissues than in the adjacent normal tissues.
26635288	Underexpression	Esophageal Squamous Cell Carcinoma	Further, IDH2 mRNA levels were down-regulated in ESCC (tumour:normal-fold change = 0.69, P = .75E-14).
26553362	Underexpression	Gastric Carcinoma	We found that the IDH2 levels significantly decreased in GC, and were even lower in GC with metastases, compared to those without metastases.
26320466	Underexpression	Cholangiocarcinoma	In human cases, expression of HGD, IDH1 and IDH2 was decreased more than 2 fold in 55 cases (70.5%), 25 cases (32.1%) and 24 cases (30.8%) respectively.
24716838	Underexpression	Hepatocellular Carcinoma	The expression of 5-hydroxymethylcytosine (5-hmC) and isocitrate dehydrogenase 2 (IDH2) is frequently downregulated in numerous cancers. 5-hmC and IDH2 expression in hepatocellular carcinoma (HCC) has yet to be determined. We discovered that low 5-hmC and IDH2 expression was associated with malignant behaviors.
24164308	Underexpression	Vulvar Lichen Sclerosus	By contrast, IDH2 levels were significantly reduced in baseline VLS compared with controls and UVA1-treated VLS.
23685147	altered expression	Nasopharyngeal Carcinoma	Gene expression profiling analysis unexpectedly showed a significant number of up- and down-modulated metabolism-associated genes, such as G6PD, SAT1, ASS1, PAST1, FUT1, SGPL1, DHRS3, B4GALT1, PHGDH, IDH2, PISD, UGT8, LDHB and GALNT1, in EBV-miR-BART1-expressing NPC cells, which were next confirmed by RT-qPCR.
23263745	Underexpression	Malignant Glioma	In malignant glioma specimens, the expression levels of IDH2 were lower in tumors than in the peripheral, non-tumorous brain tissues.
22980977	Underexpression	Melanoma	We show that downregulation of isocitrate dehydrogenase 2 (IDH2) and TET family enzymes is likely one of the mechanisms underlying 5-hmC loss in melanoma.
22807371	Overexpression	Ovarian Carcinoma	Furthermore, up-regulation of KRT8, PPA1, IDH2, and S100A11 were validated in ovarian tissue microarrays by immunohistochemistry.
22535206	Overexpression	Breast Carcinoma	Cancer cells, as opposed to near-normal MCF-10A cells, exhibited significantly increased expression of key energy metabolic pathway enzymes (FBP1, IDH2, and G6PD) that are known to redirect cellular metabolism and increase carbon flux through the pentose phosphate pathway.
22414580	Overexpression	Breast Carcinoma	Proteomic analysis also identified high levels of IDH2 and CRABP2 and low levels of SEC14L2 to be prognostic markers for overall breast cancer survival.

Summary
Symbol	IDH2
Name	isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
Aliases	D2HGA2; ICD-M; IDHM; IDPM; mNADP-IDH; Isocitrate dehydrogenase [NADP], mitochondrial
Location	15q26.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Somatic copy number alteration in primary tomur tissue

> The Cancer Genome Atlas (TCGA)

[ TOP ]

Correlation between expression and SCNA as well as percentage of patients in different status.

Cancer	Full Name	# Sample	R	P	% Loss	% Neutral	% Gain	Status
BLCA	Bladder urothelial carcinoma	404	0.302	6.17e-10	34.4	53.7	11.9	Loss
BRCA	Breast invasive carcinoma	1075	0.356	1.46e-33	25.2	58.1	16.7	Neutral
CESC	Cervical and endocervical cancers	292	0.352	5.93e-10	15.1	59.9	25	Neutral
COAD	Colon adenocarcinoma	449	0.336	2.78e-13	32.3	61.5	6.2	Neutral
ESCA	Esophageal carcinoma	183	0.409	9.04e-09	25.1	45.9	29	Neutral
GBM	Glioblastoma multiforme	147	0.261	0.0014	19	73.5	7.5	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.387	8.01e-20	19.1	63	17.9	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.27	3.02e-10	6.9	87.8	5.3	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	0.205	0.000479	10.8	87.5	1.7	Neutral
LAML	Acute Myeloid Leukemia	166	-0.022	0.783	2.4	97.6	0	Neutral
LGG	Brain Lower Grade Glioma	513	0.337	4.31e-15	10.7	86.7	2.5	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.292	1.45e-08	20.3	65.9	13.7	Neutral
LUAD	Lung adenocarcinoma	512	0.37	4.42e-18	41.4	45.7	12.9	Loss
LUSC	Lung squamous cell carcinoma	498	0.385	5.21e-19	20.3	46.4	33.3	Neutral
OV	Ovarian serous cystadenocarcinoma	300	0.498	3.52e-20	41.7	38	20.3	Loss
PAAD	Pancreatic adenocarcinoma	177	0.334	5.47e-06	16.4	72.3	11.3	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.247	0.00156	2.5	89.5	8	Neutral
PRAD	Prostate adenocarcinoma	491	0.182	4.97e-05	8.6	89.4	2	Neutral
READ	Rectum adenocarcinoma	164	0.41	5.13e-08	37.8	54.3	7.9	Loss
SARC	Sarcoma	255	0.337	3.61e-08	15.7	52.5	31.8	Neutral
SKCM	Skin Cutaneous Melanoma	367	0.375	1.1e-13	10.6	56.9	32.4	Neutral
STAD	Stomach adenocarcinoma	413	0.406	7.5e-18	16.2	58.8	24.9	Neutral
TGCT	Testicular Germ Cell Tumors	150	-0.087	0.292	21.3	46	32.7	Neutral
THCA	Thyroid carcinoma	497	-0.1	0.0265	1.6	98.4	0	Neutral
THYM	Thymoma	119	-0.001	0.994	1.7	88.2	10.1	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.377	1.27e-19	17.1	76.2	6.7	Neutral

Summary
Symbol	IDH2
Name	isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
Aliases	D2HGA2; ICD-M; IDHM; IDPM; mNADP-IDH; Isocitrate dehydrogenase [NADP], mitochondrial
Location	15q26.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Methylation level in the promoter region of CR

> Methylation level in the promoter region of CR

[ TOP ]

Correlation between expression and methylation as well as differential methylation analysis.

Cancer	Full Name	R	P	# N	# T	Delta beta (T vs N)	P value (T vs N)	Status
BLCA	Bladder urothelial carcinoma	-0.017	0.726	17	408	-0.002	0.349	NS/NA
BRCA	Breast invasive carcinoma	-0.074	0.0296	83	785	0.001	0.00334	NS/NA
CESC	Cervical and endocervical cancers	-0.166	0.00351	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.058	0.301	19	297	0	0.00403	NS/NA
ESCA	Esophageal carcinoma	-0.028	0.701	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.198	0.115	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.092	0.0318	20	522	0.003	3.01e-08	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.126	0.0198	24	319	0.001	0.00109	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.238	3.5e-05	23	275	0.001	0.00209	NS/NA
LAML	Acute Myeloid Leukemia	-0.153	0.0464	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.094	0.0304	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.103	0.0361	41	373	0.001	0.0141	NS/NA
LUAD	Lung adenocarcinoma	-0.091	0.0461	21	456	0.001	0.517	NS/NA
LUSC	Lung squamous cell carcinoma	-0.057	0.267	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.7	0.0433	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.162	0.0287	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.056	0.446	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.046	0.288	35	498	-0.001	0.94	NS/NA
READ	Rectum adenocarcinoma	-0.104	0.299	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.042	0.492	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.133	0.00387	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.041	0.429	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.212	0.00784	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.118	0.00525	50	509	0	0.0139	NS/NA
THYM	Thymoma	0.027	0.769	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.125	0.00689	34	431	-0.002	0.42	NS/NA

Summary
Symbol	IDH2
Name	isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
Aliases	D2HGA2; ICD-M; IDHM; IDPM; mNADP-IDH; Isocitrate dehydrogenase [NADP], mitochondrial
Location	15q26.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Primary tumor tissue from TCGA > Normal tumor tissue from HPA

>The Cancer Genome Atlas (TCGA) [ TOP ]
There is no record.

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Level	Level Name
Adrenal gland	1	Low
Appendix	3	High
Bone marrow	3	High
Breast	2	Medium
Bronchus	3	High
Caudate	1	Low
Cerebellum	2	Medium
Cerebral cortex	2	Medium
Cervix, uterine	3	High
Colon	3	High
Duodenum	3	High
Endometrium	2	Medium
Epididymis	0	Not detected
Esophagus	3	High
Fallopian tube	3	High
Gallbladder	2	Medium
Heart muscle	3	High
Hippocampus	2	Medium
Kidney	3	High
Liver	0	Not detected
Lung	2	Medium
Lymph node	3	High
Nasopharynx	3	High
Oral mucosa	2	Medium
Ovary	0	Not detected
Pancreas	2	Medium
Placenta	3	High
Prostate	3	High
Rectum	3	High
Salivary gland	3	High
Seminal vesicle	3	High
Skeletal muscle	2	Medium
Skin	2	Medium
Small intestine	3	High
Smooth muscle	0	Not detected
Soft tissue	2	Medium
Spleen	0	Not detected
Stomach	3	High
Testis	2	Medium
Thyroid gland	2	Medium
Tonsil	3	High
Urinary bladder	3	High
Vagina	0	Not detected

Summary
Symbol	IDH2
Name	isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
Aliases	D2HGA2; ICD-M; IDHM; IDPM; mNADP-IDH; Isocitrate dehydrogenase [NADP], mitochondrial
Location	15q26.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Association between expresson and subtype > Overall survival analysis based on expression > Association between expresson and stage > Association between expresson and grade

> Subtype

[ TOP ]

Association between expresson and subtype.

Cancer	Full Name	# Patients	P Value (Kruskal-Wallis)	Association	Source
BLCA	Bladder urothelial carcinoma	128	0.629	NS	24476821
BRCA	Breast invasive carcinoma	521	1.46e-19	Significant	23000897
COAD	Colon adenocarcinoma	149	0.893	NS	22810696
GBM	Glioblastoma multiforme	157	0.313	NS	26824661
HNSC	Head and Neck squamous cell carcinoma	279	0.0957	NS	25631445
KIRP	Kidney renal papillary cell carcinoma	161	8.55e-09	Significant	26536169
LGG	Brain Lower Grade Glioma	513	0.00349	Significant	26824661
LUAD	Lung adenocarcinoma	230	3.87e-07	Significant	25079552
LUSC	Lung squamous cell carcinoma	178	0.0993	NS	22960745
OV	Ovarian serous cystadenocarcinoma	287	0.0365	Significant	21720365
PRAD	Prostate adenocarcinoma	333	0.00916	Significant	26544944
READ	Rectum adenocarcinoma	67	0.378	NS	22810696
SKCM	Skin Cutaneous Melanoma	315	0.137	NS	26091043
STAD	Stomach adenocarcinoma	277	0.0924	NS	25079317
THCA	Thyroid carcinoma	391	0.0288	Significant	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	0.055	NS	23636398

> Overall survival

[ TOP ]

Overall survival analysis based on expression.

Cancer	Full Name	# Patients	Hazard Ratio	P Value (Log Rank Test)	Association
BLCA	Bladder urothelial carcinoma	405	1.225	0.319	NS
BRCA	Breast invasive carcinoma	1079	0.884	0.567	NS
CESC	Cervical and endocervical cancers	291	0.68	0.219	NS
COAD	Colon adenocarcinoma	439	0.782	0.374	NS
ESCA	Esophageal carcinoma	184	1.364	0.318	NS
GBM	Glioblastoma multiforme	158	0.892	0.644	NS
HNSC	Head and Neck squamous cell carcinoma	518	0.799	0.257	NS
KIRC	Kidney renal clear cell carcinoma	531	0.874	0.525	NS
KIRP	Kidney renal papillary cell carcinoma	287	0.909	0.841	NS
LAML	Acute Myeloid Leukemia	149	1.372	0.275	NS
LGG	Brain Lower Grade Glioma	511	0.948	0.834	NS
LIHC	Liver hepatocellular carcinoma	365	0.612	0.047	Longer
LUAD	Lung adenocarcinoma	502	0.985	0.944	NS
LUSC	Lung squamous cell carcinoma	494	0.913	0.626	NS
OV	Ovarian serous cystadenocarcinoma	303	0.871	0.519	NS
PAAD	Pancreatic adenocarcinoma	177	1.032	0.917	NS
PCPG	Pheochromocytoma and Paraganglioma	179	1.038	0.979	NS
PRAD	Prostate adenocarcinoma	497	0.319	0.191	NS
READ	Rectum adenocarcinoma	159	1.535	0.502	NS
SARC	Sarcoma	259	1.391	0.266	NS
SKCM	Skin Cutaneous Melanoma	459	1.059	0.758	NS
STAD	Stomach adenocarcinoma	388	0.63	0.0491	Longer
TGCT	Testicular Germ Cell Tumors	134	1.018	0.99	NS
THCA	Thyroid carcinoma	500	0.382	0.233	NS
THYM	Thymoma	119	0	0.0213	Longer
UCEC	Uterine Corpus Endometrial Carcinoma	543	1.139	0.687	NS

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	0.096	0.0542	NS
BRCA	Breast invasive carcinoma	1071	0.043	0.158	NS
CESC	Cervical and endocervical cancers	167	0.174	0.0243	Higher
COAD	Colon adenocarcinoma	445	-0.139	0.00324	Lower
ESCA	Esophageal carcinoma	162	0.001	0.992	NS
HNSC	Head and Neck squamous cell carcinoma	448	-0.063	0.181	NS
KIRC	Kidney renal clear cell carcinoma	531	0.044	0.309	NS
KIRP	Kidney renal papillary cell carcinoma	260	0.142	0.022	Higher
LIHC	Liver hepatocellular carcinoma	347	-0.107	0.0467	Lower
LUAD	Lung adenocarcinoma	507	0.051	0.248	NS
LUSC	Lung squamous cell carcinoma	497	-0.06	0.18	NS
OV	Ovarian serous cystadenocarcinoma	302	0.034	0.559	NS
PAAD	Pancreatic adenocarcinoma	176	0.077	0.31	NS
READ	Rectum adenocarcinoma	156	-0.166	0.038	Lower
SKCM	Skin Cutaneous Melanoma	410	0.001	0.978	NS
STAD	Stomach adenocarcinoma	392	-0.133	0.00861	Lower
TGCT	Testicular Germ Cell Tumors	81	0.061	0.589	NS
THCA	Thyroid carcinoma	499	-0.011	0.812	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	-0.05	0.262	NS

> Grade

[ TOP ]

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	-0.074	0.225	NS
HNSC	Head and Neck squamous cell carcinoma	498	-0.089	0.046	Lower
KIRC	Kidney renal clear cell carcinoma	525	0.162	0.000197	Higher
LGG	Brain Lower Grade Glioma	514	-0.061	0.169	NS
LIHC	Liver hepatocellular carcinoma	366	-0.149	0.00428	Lower
OV	Ovarian serous cystadenocarcinoma	296	0.168	0.00374	Higher
PAAD	Pancreatic adenocarcinoma	176	0.049	0.522	NS
STAD	Stomach adenocarcinoma	406	-0.172	0.000506	Lower
UCEC	Uterine Corpus Endometrial Carcinoma	534	-0.105	0.0153	Lower

Summary
Symbol	IDH2
Name	isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
Aliases	D2HGA2; ICD-M; IDHM; IDPM; mNADP-IDH; Isocitrate dehydrogenase [NADP], mitochondrial
Location	15q26.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Targets inferred by reverse engineering method > Targets identified by ChIP-seq data

> Targets inferred by reverse engineering method [ TOP ]

> Targets identified by ChIP-seq data [ TOP ]

Summary
Symbol	IDH2
Name	isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
Aliases	D2HGA2; ICD-M; IDHM; IDPM; mNADP-IDH; Isocitrate dehydrogenase [NADP], mitochondrial
Location	15q26.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Drugs from DrugBank database

> Drugs from DrugBank database

[ TOP ]

DrugBank ID	Name	Type	All Targets
DB01727	Isocitric Acid	Small Molecule Drug

Summary
Symbol	IDH2
Name	isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
Aliases	D2HGA2; ICD-M; IDHM; IDPM; mNADP-IDH; Isocitrate dehydrogenase [NADP], mitochondrial
Location	15q26.1
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Protein-Protein Interaction Network > miRNA Regulatory Relationship > Interactions from Text Mining

> Protein-Protein Interaction Network [ TOP ]

> miRNA Regulatory Relationship [ TOP ]

> Interactions from Text Mining

[ TOP ]

PMID	Cancer	Hierarchy	Gene	Relation to CR	Evidence
20972461	Glioma	downstream	α-ketoglutarate; D2HG	regulation	Soon, it became clear that the mutations identified impaired the ability of IDH1 and IDH2 to catalyze the conversion of isocitrate to α-ketoglutarate (αKG), whereas conferring a gain of a novel enzymatic activity leading to the reduction of αKG to the metabolite D2-hydroxyglutarate (D-2HG).
21625441	Glioblastoma	downstream	α-ketoglutarate; 2HG	regulation	IDH1 and IDH2 mutations cause both loss of normal enzyme function and gain-of-function, causing reduction of α-KG to D-2-hydroxyglutarate (D-2HG) which accumulates.
21641335	Glioma	downstream	α-ketoglutarate; 2HG	regulation	IDH1 and IDH2 mutations lead to simultaneous loss and gain of activities in the production of α-ketoglutarate (α-KG) and 2-hydroxyglutarate (2HG), respectively, and result in lowering NADPH levels even further.
22105553	Glioma	partner	α-ketoglutarate	Mutation-induced negative correlation	Mutations of IDH1 and IDH2 led to simultaneous loss and gain of activities in the production of α-ketoglutarate and 2-hydroxyglutarate, respectively.
22105553	Glioma	downstream	2HG	regulation	Mutations of IDH1 and IDH2 led to simultaneous loss and gain of activities in the production of α-ketoglutarate and 2-hydroxyglutarate, respectively.
22824796	Glioma; Myeloid Leukemia; Chondrosarcoma; Thyroid Gland Carcinoma; Intrahepatic Cholangiocarcinoma	downstream	5hmc; H3K79; p53	regulation	Tumor with mutations in IDH1 or IDH2 had lower 5-hydroxymethylcytosine and higher 5-methylcytosine levels, as well as increased dimethylation of histone H3 lysine 79 (H3K79). IDH1 and IDH2 mutations were significantly associated with increased levels of p53 in intrahepatic cholangiocarcinomas, but no mutations in the p53 gene were found, suggesting that mutations in IDH1 and IDH2 may cause a stress that leads to p53 activation.
24549719	Glioma	downstream	α-ketoglutarate; 2HG	regulation	Mutations of IDH1 and IDH2 lead to simultaneous loss and gain of activities in the production of α-ketoglutarate and 2-hydroxyglutarate, respectively.
26268241	Angioimmunoblastic T-Cell Lymphoma	downstream	2HG; Histone-3 lysine methylation; 5-methylcytosine	Positive regulation	Ectopic expression of IDH2(R172K) in the Jurkat cell line and CD4(+) T cells led to markedly increased levels of 2-hydroxyglutarate, histone-3 lysine methylation, and 5-methylcytosine and a decrease of 5-hydroxymethylcytosine.
27466503	Gastric Carcinoma	downstream	5hmC	Positive regulation	The ectopic expression of IDH2 can increase 5hmC levels in gastric cancer cells. In conclusion, our results suggested that IDH2 dysfunction is involved in 5hmC depletion during gastric cancer progression.
27353503	Malignant Glioma	partner	IDH2	Mutually exclusive mutation	IDH1 and IDH2 mutations were mutually exclusive, and all mutated tumors were collapsed into one IDH-mutated cohort.
27245697	Low Grade Glioma; Glioblastoma, IDH-Mutant	partner	IDH1; PTEN ; P53; ATRX	Mutually exclusive	We found that IDH1 and IDH2 are mutually exclusive in gliomas, and IDH2 mutations are mutually exclusive with PTEN, P53 and ATRX mutations.
27137476	Acute Myeloid Leukemia	partner	RUNX1	Co-existing mutation	RUNX1 mutations were found in 245 of 2439 (10%) patients; were almost mutually exclusive of AML with recurrent genetic abnormalities; and they co-occurred with a complex pattern of gene mutations, frequently involving mutations in epigenetic modifiers (ASXL1, IDH2, KMT2A, EZH2), components of the spliceosome complex (SRSF2, SF3B1) and STAG2, PHF6, BCOR.
27014623	Glioma	downstream	D2HG	positive regulation	D2HG is generated in large amounts due to various gain-of-function mutations in the isocitrate dehydrogenases IDH1 and IDH2.
26943899	Acute Myeloid Leukemia	partner	2HG	Mutation-induced positive correlation	They then show that elevated levels of 2-HG are correlated with mutations in IDH1 and IDH2 in AML patient samples (Figure 5).
26834160	Glioma	partner	2HG	Mutation-induced positive correlation	Recurrent mutations in the isocitrate dehydrogenase 1 (IDH1) and IDH2 genes, which are frequent in gliomas, result in marked accumulation of the metabolic by-product 2-hydroxyglutarate (2-HG) within tumors.
26669865	Glioma	partner	2HG	Mutation-induced positive correlation	Notably, IDH2 mutation produced more 2-HG than IDH1 mutation, consistent with previous findings in cell culture.
25895133	Glioma; Leukemia; Chondrosarcoma	downstream	D2HG	positive regulation	Compared to IDH1/2 wildtype cell lines, chondrosarcoma cell lines harboring an endogenous IDH1 (n=3) or IDH2 mutation (n=2) showed up to a 100-fold increase in intracellular and extracellular D-2-HG levels.
25795706	Acute Myeloid Leukemia	downstream	5hmc modification; Ebf1; Spib	Negative regulation	IDH2/R140Q decreased the 5hmC modification and expression of some differentiation-inducing genes (Ebf1 and Spib).
25651001	Acute Myeloid Leukemia	downstream	2HG	positive regulation	Mutations in IDH1 and IDH2 occur in 15-20% of AML cases, resulting in the production of 2-hydroxyglutarate, which promotes aberrant hypermethylation of DNA in leukemic cells.
25601757	Acute Myeloid Leukemia	partner	WT1	Mutually exclusive mutation	Here we report that WT1, a sequence-specific transcription factor, is mutated in a mutually exclusive manner with TET2, IDH1, and IDH2 in acute myeloid leukemia (AML).
25586680	Colorectal Carcinoma	downstream	D2HG	positive regulation	The mutated forms of IDH1 and IDH2 produce an oncogenic metabolite, D-2-hydroxyglutarate (D2HG).
25482556	Acute Myeloid Leukemia	partner	WT1	mutually exclusive mutation (loss of function)	The observation that WT1 inactivating mutations anticorrelate with TET2/IDH1/IDH2 mutations in acute myeloid leukemia (AML) led us to hypothesize that WT1 mutations may impact TET2 function.
25427834	Diffuse Glioma	partner	1p/19 codeletion	Co-existing	Further, all patients with 1p/19 codeletion carried a mutation in IDH1 or IDH2.
25398940	Acute Myeloid Leukemia	downstream	2HG	positive regulation	Mutations of IDH1 and IDH2, which produce the oncometabolite 2-hydroxyglutarate (2HG), have been identified in several tumors, including acute myeloid leukemia.
25398939	Leukemia	downstream	2HG	Mutation-induced positive regulation	Gain-of-function mutations in nicotinamide adenine dinucleotide phosphate-dependent isocitrate dehydrogenase (IDH)1 and IDH2 frequently arise in human leukemias and other cancers and produce high levels of D-2-hydroxyglutarate (D-2HG).
24478380	Intrahepatic Cholangiocarcinoma	downstream	2HG	positive regulation	Mutations in the IDH1 and IDH2 (IDH1/2) genes occur in approximately 20% of intrahepatic cholangiocarcinoma and lead to accumulation of 2-hydroxyglutarate (2HG) in the tumor tissue.
24443894	Acute Myeloid Leukemia	partner	IDH1	Mutually exclusive mutation	IDH1 and IDH2 mutations were mutually exclusive and were associated with normal karyotype AML, cytogenetic intermediate-risk group, and NPM1 mutations.
24440599	Acute Myeloid Leukemia	partner	HoxA9;Meis1a; FLT3	collaboration	We found that IDH2(R140Q) can cooperate with overexpression of HoxA9 and Meis1a and with mutations in FMS-like tyrosine kinase 3 (FLT3) to drive acute leukemia invivo.
24309525	Acute Myeloid Leukemia	partner	FLT3	Co-existing mutation	Specific combinations of mutations, including FLT3 and IDH1/IDH2/TET2, frequently co-occur in acute myeloid leukemia (AML) and are associated with poor prognosis.
24082129	Acute Myeloid Leukemia	downstream	2HG	Mutation-induced positive regulation	The 2-hydroxyglutarate (2-HG) has been reported to result from mutations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) genes and to function as an oncometabolite.
23815907	Acute Myeloid Leukemia	partner	FLT3/ITD; Dnmt3a	Co-existing mutation	IDH2 mutation combined with FLT3/ITD mutation was found in 7 cases, with CEBPA mutation in 4 cases, with NPM1 mutation in 4 cases, with Dnmt3a mutation in 5 cases, neither with c-kit, IDH1 or WT1 mutation for no one, which revealed a significant interaction between IDH2 mutation and the FLT3/ITD positive genotype, Dnmt3a mutated, and IDH1 wild-type. IDH2 mutation is significantly associated with AML-M5, FLT3/ITD, Dnmt3a, IDH1 wild-type and fusion gene wild-type, but not with age, leucocyte and platelet counts in peripheral blood, karyotype, NPM1, CEBPA, c-kit or WT1 mutation.
23755812	Acute Myeloid Leukemia	partner	IDH1	Mutually exclusive mutation	None of them had the combined mutations of IDH1 and IDH2.
23393090	Leukemia	downstream	R2HG	positive regulation	Mutations in IDH1 and IDH2, the genes coding for isocitrate dehydrogenases 1 and 2, are common in several human cancers, including leukemias, and result in overproduction of the (R)-enantiomer of 2-hydroxyglutarate [(R)-2HG].
23039322	Acute Myeloid Leukemia	partner	NPM1	Co-existing mutation	IDH1(mut) and IDH2(mut) were associated differently with NPM1(mut); co-occurrence was observed in 14.3% of IDH1 R132C vs. 70% of R132H carriers (p = 0.02) and in 47.4% of IDH2 R140Q vs. 0% of R172K carriers (p = 0.02).
22980977	Melanoma	downstream	5hmc	Positive regulation	We show that downregulation of isocitrate dehydrogenase 2 (IDH2) and TET family enzymes is likely one of the mechanisms underlying 5-hmC loss in melanoma.
22929312	Acute Myeloid Leukemia	partner	IDH1	Mutually exclusive mutation	IDH1 and IDH2 mutations were mutually exclusive.
22494415	Acute Myeloid Leukemia	partner	NPM1	Co-existing mutation	There was a strong association of IDH2 mutation with NPM1 mutations and a trend with FLT3-internal-tandem duplication.
22287028	Grade II Glioma; WHO Grade III Glioma	partner	MGMT promoter hypermethylation	association	MGMT promoter hypermethylation was significantly associated with IDH1/IDH2 mutations (P = 0.0207) in grade II–III tumors, whereas it had a borderline association with 1p deletion (P = 0.0538) in oligodendrogliomas.
22281806	Grade II Glioma; WHO Grade III Glioma	partner	2HG; D2HG	Mutation-induced positive correlation	Detection of 2HG correlated with mutations in IDH1 or IDH2 and with increased levels of D-2HG by mass spectrometry of the resected tumors.
22077061	Acute Myeloid Leukmemia	partner	DNMT3A	Co-existing mutation	DNMT3A mutations were positively associated with older age, higher WBC and platelet counts, intermediate-risk and normal cytogenetics, FLT3 internal tandem duplication, and NPM1, PTPN11, and IDH2 mutations, but were negatively associated with CEBPA mutations.
21997850	Acute Myeloid Leukemia; Myelodysplastic Syndrome	partner	IDH1	Mutually exclusive mutation	IDH1 and IDH2 mutations were heterozygous and mutually exclusive.
21937695	Acute Myeloid Leukemia	partner	BRE	Mutation-induced mutually exclusive	High BRE expression was mutually exclusive with FLT3 ITD, CEBPA, IDH1, and IDH2 mutations, EVI1 overexpression, and favorable karyotypes.
21913188	Glioma	downstream	2HG	positive regulation	Mutated IDH1 or IDH2 protein leads to the generation of excessive amounts of the metabolite 2-hydroxyglutarate (2HG) in tumor cells.
21885076	Glioma	partner	1p19q codeletion	Mutation-induced positive correlation	IDH1/IDH2 mutations are associated with genomic profile, being present in nearly all the 1p19q codeleted gliomas, and virtually absent in gliomas with EGFR amplification.
21885076	Glioma	downstream	2HG	positive regulation	IDH1/IDH2 mutation results in a new enzymatic activity transforming α-ketoglutarate into 2-hydroxyglutarate (2-HG).
21874255	Glioma	partner	IDH1	Mutually exclusive mutation	No tumor was mutated in both IDH1 and IDH2.
21647154	Acute Myeloid Leukemia	partner	FLT3	Co-existing mutation (gain of function)	Interestingly, 3/5 AMLs with IDH2 mutations had FLT3-activating mutations, raising the possibility that these mutations cooperate in leukemogenesis.
21598255	Central Chondrosarcoma; Enchondroma; Periosteal Chondroma	downstream	2HG	positive regulation	Heterozygous somatic IDH1/IDH2 mutations, which result in the production of a potential oncometabolite, 2-hydroxyglutarate, were only detected in central and periosteal cartilaginous tumours, and were found in at least 56% of these, 40% of which were represented by R132C.
21596855	Acute Myeloid Leukemia	partner	NPM1	Co-existing mutation	IDH2(R140) significantly correlated with nucleophosmin mutations (NPM1(MUT)), whereas IDH2(R172) cases generally lacked other molecular mutations.
21343560	Acute Myeloid Leukemia	partner	RUNX1	Co-existing mutation	RUNX1 mutations were associated with MLL-partial tandem duplications (P = .0007) and IDH1/IDH2 mutations (P = .03), inversely correlated with NPM1 (P < .0001), and in trend with CEBPA (P = .10) mutations.
21289278	Glioma	downstream	2HG	positive regulation	When mutated, IDH1 and IDH2 gain the ability to produce the metabolite (R)-2-hydroxyglutarate (2HG), but the downstream effects of mutant IDH1 and IDH2 proteins or of 2HG on cellular metabolism are unknown.
21225914	Malignant Glioma; Myeloid Leukemia	downstream	D2HG	positive regulation	Elevated levels of D-2-hydroxyglutarate have been demonstrated with malignant gliomas and myeloid leukemias associated with somatic mutations of the genes encoding NADP(+)-dependent isocitrate dehydrogenases (IDH1 and IDH2, respectively).
21173122	Acute Myeloid Leukemia	partner	IDH1(R)	Mutually exclusive mutation	IDH1(R) and IDH2(R) mutations were mutually exclusive.
20962328	Malignant Glioma; Acute Myeloid Leukemia	downstream	D2HG	positive regulation	Recurrent somatic mutations in the isocitrate dehydrogenase 1 (IDH1) and IDH2 genes that result in the accumulation of D-2-hydroxyglutarate (D-2-HG) have been identified in malignant gliomas and in acute myeloid leukemia (AML).
20421455	Acute Myeloid Leukemia; Myeloproliferative Neoplasm	partner	IDH1	Mutually exclusive mutation	IDH2 mutations were mutually exclusive with mutations in IDH1.
20171147	Leukemia	partner	2HG	Mutation-induced positive correlation	The remaining cases with elevated 2HG had mutations in IDH2, the mitochondrial homolog of IDH1.