CR2Cancer

Summary
Symbol	DNMT3A
Name	DNA methyltransferase 3 alpha
Aliases	DNMT3A2; M.HsaIIIA; TBRS; DNA MTase HsaIIIA; DNA cytosine methyltransferase 3A2; DNA methyltransferase HsaII ......
Location	2p23.3
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

PF00145 C-5 cytosine-specific DNA methylase
PF00855 PWWP domain

Function

Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. It modifies DNA in a non-processive manner and also methylates non-CpG sites. May preferentially methylate DNA linker between 2 nucleosomal cores and is inhibited by histone H1. Plays a role in paternal and maternal imprinting. Required for methylation of most imprinted loci in germ cells. Acts as a transcriptional corepressor for ZBTB18. Recruited to trimethylated 'Lys-36' of histone H3 (H3K36me3) sites. Can actively repress transcription through the recruitment of HDAC activity.

Classification

Class	Modification	Substrate	Product	PubMed
DNA modification	DNA methylation	dhC	dhU	12138111

> Gene Ontology [ TOP ]
Biological Process	GO:0001101 response to acid chemical GO:0001666 response to hypoxia GO:0006304 DNA modification GO:0006305 DNA alkylation GO:0006306 DNA methylation GO:0006342 chromatin silencing GO:0006346 methylation-dependent chromatin silencing GO:0006349 regulation of gene expression by genetic imprinting GO:0006790 sulfur compound metabolic process GO:0007283 spermatogenesis GO:0007568 aging GO:0007584 response to nutrient GO:0009116 nucleoside metabolic process GO:0009119 ribonucleoside metabolic process GO:0009314 response to radiation GO:0009636 response to toxic substance GO:0009991 response to extracellular stimulus GO:0010035 response to inorganic substance GO:0010038 response to metal ion GO:0010212 response to ionizing radiation GO:0010288 response to lead ion GO:0010424 DNA methylation on cytosine within a CG sequence GO:0016458 gene silencing GO:0031667 response to nutrient levels GO:0032259 methylation GO:0032355 response to estradiol GO:0032776 DNA methylation on cytosine GO:0033189 response to vitamin A GO:0033273 response to vitamin GO:0036293 response to decreased oxygen levels GO:0036294 cellular response to decreased oxygen levels GO:0040029 regulation of gene expression, epigenetic GO:0042220 response to cocaine GO:0042278 purine nucleoside metabolic process GO:0042493 response to drug GO:0043045 DNA methylation involved in embryo development GO:0043046 DNA methylation involved in gamete generation GO:0043200 response to amino acid GO:0043279 response to alkaloid GO:0043414 macromolecule methylation GO:0044026 DNA hypermethylation GO:0044027 hypermethylation of CpG island GO:0044030 regulation of DNA methylation GO:0044728 DNA methylation or demethylation GO:0045471 response to ethanol GO:0045814 negative regulation of gene expression, epigenetic GO:0046128 purine ribonucleoside metabolic process GO:0046498 S-adenosylhomocysteine metabolic process GO:0046499 S-adenosylmethioninamine metabolic process GO:0048232 male gamete generation GO:0051052 regulation of DNA metabolic process GO:0070482 response to oxygen levels GO:0071229 cellular response to acid chemical GO:0071230 cellular response to amino acid stimulus GO:0071361 cellular response to ethanol GO:0071417 cellular response to organonitrogen compound GO:0071453 cellular response to oxygen levels GO:0071456 cellular response to hypoxia GO:0071514 genetic imprinting GO:0090116 C-5 methylation of cytosine GO:0097284 hepatocyte apoptotic process GO:0097305 response to alcohol GO:0097306 cellular response to alcohol GO:1901538 changes to DNA methylation involved in embryo development GO:1901605 alpha-amino acid metabolic process GO:1901657 glycosyl compound metabolic process GO:1904019 epithelial cell apoptotic process
Molecular Function	GO:0003682 chromatin binding GO:0003886 DNA (cytosine-5-)-methyltransferase activity GO:0008168 methyltransferase activity GO:0008757 S-adenosylmethionine-dependent methyltransferase activity GO:0009008 DNA-methyltransferase activity GO:0016741 transferase activity, transferring one-carbon groups GO:0045322 unmethylated CpG binding GO:0051718 DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates
Cellular Component	GO:0000775 chromosome, centromeric region GO:0000785 chromatin GO:0000790 nuclear chromatin GO:0000791 euchromatin GO:0000792 heterochromatin GO:0000803 sex chromosome GO:0001741 XY body GO:0005720 nuclear heterochromatin GO:0016363 nuclear matrix GO:0034399 nuclear periphery GO:0044454 nuclear chromosome part GO:0098687 chromosomal region

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa00270 Cysteine and methionine metabolism hsa01100 Metabolic pathways
Reactome	R-HSA-3247509: Chromatin modifying enzymes R-HSA-4839726: Chromatin organization R-HSA-5334118: DNA methylation R-HSA-212165: Epigenetic regulation of gene expression R-HSA-74160: Gene Expression R-HSA-212300: PRC2 methylates histones and DNA R-HSA-3214858: RMTs methylate histone arginines

Summary
Symbol	DNMT3A
Name	DNA methyltransferase 3 alpha
Aliases	DNMT3A2; M.HsaIIIA; TBRS; DNA MTase HsaIIIA; DNA cytosine methyltransferase 3A2; DNA methyltransferase HsaII ......
Location	2p23.3
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 ]
There is no record.

> Catalogue of Somatic Mutations in Cancer (COSMIC)

[ TOP ]

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM5500833	c.2455C>G	p.L819V	Substitution - Missense	Biliary_tract
COSM5944976	c.1096C>A	p.R366S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4991719	c.2103C>T	p.F701F	Substitution - coding silent	Skin
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4888897	c.531G>T	p.E177D	Substitution - Missense	Upper_aerodigestive_tract
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133721	c.958C>T	p.R320*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878755	c.2321A>T	p.E774V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166345	c.?	p.?	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1583099	c.2150A>G	p.N717S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5985148	c.2617C>A	p.H873N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4678907	c.176_177insC	p.V60fs*5	Insertion - Frameshift	Large_intestine
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1752481	c.632A>C	p.K211T	Substitution - Missense	Urinary_tract
COSM1583130	c.2693T>C	p.I898T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3719761	c.1979A>T	p.Y660F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878809	c.1723delG	p.A575fs*76	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133138	c.2729C>T	p.A910V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166346	c.?	p.?fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231560	c.2206C>T	p.R736C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583144	c.2308_2309insCG	p.F772fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944889	c.2554A>G	p.M852V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383562	c.1640T>G	p.L547R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944978	c.1040T>C	p.L347P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87012	c.1903C>T	p.R635W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5752684	c.2524C>T	p.Q842*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM249843	c.993_994insC	p.G332fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1318947	c.2486A>G	p.K829R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4908593	c.2204A>C	p.Y735S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878752	c.2389A>G	p.N797D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM253388	c.?	p.R887I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5878878	c.692delA	p.Q231fs*85	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4170209	c.2320G>T	p.E774*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133124	c.1906G>A	p.V636M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878845	c.1238_1239insG	p.F414fs*7	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1683137	c.2571delC	p.D857fs*24	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM133719	c.2246_2249delGCCC	p.R749fs*29	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM249806	c.1851+23G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM2270955	c.994G>A	p.G332R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878849	c.1126G>C	p.A376P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5944982	c.935C>A	p.S312Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4963841	c.2412G>T	p.P804P	Substitution - coding silent	Pancreas
COSM5945644	c.2069T>A	p.V690D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM130455	c.2250delC	p.F751fs*28	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87012	c.1903C>T	p.R635W	Substitution - Missense	Skin
COSM1666940	c.?	p.T671A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1019231	c.2028G>A	p.R676R	Substitution - coding silent	Endometrium
COSM256043	c.1507A>G	p.T503A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231556	c.1640T>A	p.L547H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM295072	c.1179T>C	p.S393S	Substitution - coding silent	Breast
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5637236	c.1222G>T	p.E408*	Substitution - Nonsense	Oesophagus
COSM87013	c.1264_1265ins22	p.L422fs*6	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1019235	c.1976G>A	p.R659H	Substitution - Missense	Central_nervous_system
COSM1407123	c.137G>A	p.R46Q	Substitution - Missense	Large_intestine
COSM1583102	c.2114T>C	p.I705T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878855	c.1066C>T	p.Q356*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5944905	c.2401A>G	p.M801V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716169	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM231563	c.2311C>T	p.R771*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4996218	c.2173+1G>C	p.?	Unknown	Upper_aerodigestive_tract
COSM1583106	c.2309C>A	p.S770*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM720761	c.2375G>A	p.R792H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318929	c.1843C>T	p.Q615*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1583074	c.1665C>A	p.C555*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5878843	c.1300G>T	p.E434*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1583129	c.2645G>T	p.R882L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM120499	c.2638A>G	p.M880V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133737	c.2207G>A	p.R736H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5608286	c.791C>T	p.P264L	Substitution - Missense	Skin
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2270959	c.1110C>A	p.Y370*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169638	c.2501C>T	p.T834I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303904	c.1516_1516delC	p.H506fs*145	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4819907	c.1401C>T	p.V467V	Substitution - coding silent	Cervix
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583069	c.1512_1512delG	p.E505fs*146	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1161973	c.168G>T	p.K56N	Substitution - Missense	Kidney
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4093264	c.1574C>T	p.A525V	Substitution - Missense	Large_intestine
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231560	c.2206C>T	p.R736C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM720761	c.2375G>A	p.R792H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231575	c.2512A>G	p.N838D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5396712	c.1228G>A	p.A410T	Substitution - Missense	Skin
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM99742	c.2191_2193delTTC	p.F731del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM99742	c.2191_2193delTTC	p.F731del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM52954	c.?	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52963	c.?	p.R792H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878764	c.2196T>G	p.F732L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133740	c.890G>A	p.W297*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM231549	c.2309C>T	p.S770L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM219133	c.2245C>T	p.R749C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2911825	c.862C>T	p.R288W	Substitution - Missense	Large_intestine
COSM4908593	c.2204A>C	p.Y735S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5427441	c.2516C>A	p.S839Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3720632	c.1667+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944479	c.1651_1652insGTGCGGA	p.N551fs*29	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583135	c.2635A>G	p.N879D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM74415	c.2209C>T	p.L737F	Substitution - Missense	Ovary
COSM5944913	c.2330C>G	p.P777R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166347	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1583121	c.2339T>C	p.I780T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM307361	c.89A>C	p.E30A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3737037	c.2702T>A	p.L901H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133137	c.?	p.G543A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878824	c.1628_1629insG	p.R544fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5804471	c.1753A>T	p.M585L	Substitution - Missense	Liver
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3991222	c.1226G>A	p.W409*	Substitution - Nonsense	Skin
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878839	c.1474G>T	p.D492Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583094	c.2043_2043delC	p.M682fs*23	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1668761	c.667G>T	p.G223*	Substitution - Nonsense	Lung
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3839163	c.1282G>C	p.E428Q	Substitution - Missense	Breast
COSM1583149	c.1626G>T	p.G542G	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM221581	c.2506A>T	p.R836W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583109	c.2318T>G	p.L773R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4678897	c.1329T>C	p.P443P	Substitution - coding silent	Large_intestine
COSM4169721	c.976C>T	p.R326C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4385521	c.719_732del14	p.E240fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4383572	c.1367_1368delAG	p.K456fs*16	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4093266	c.1470T>C	p.I490I	Substitution - coding silent	Stomach
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583073	c.1628_1628delG	p.G543fs*108	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133733	c.2182G>C	p.G728R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133731	c.2510C>G	p.S837*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1166763	c.2706delC	p.F902fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4001621	c.1266G>A	p.L422L	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1130818	c.1320G>A	p.W440*	Substitution - Nonsense	Prostate
COSM4383556	c.2043delC	p.M682fs*23	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231562	c.1872_1872delA	p.P625fs*26	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231560	c.2206C>T	p.R736C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3580255	c.1600C>T	p.Q534*	Substitution - Nonsense	Skin
COSM4777330	c.1223A>C	p.E408A	Substitution - Missense	Breast
COSM5944929	c.2105A>T	p.D702V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3372724	c.1204C>T	p.Q402*	Substitution - Nonsense	Thyroid
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM477213	c.977G>A	p.R326H	Substitution - Missense	Kidney
COSM5476365	c.1269G>A	p.E423E	Substitution - coding silent	Large_intestine
COSM5662816	c.2122A>T	p.S708C	Substitution - Missense	Soft_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM253389	c.?	p.L901R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878876	c.742C>T	p.Q248*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5752274	c.851_855+2delACGAGGT	p.?	Unknown	Breast
COSM166346	c.?	p.?fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4789805	c.312G>A	p.G104G	Substitution - coding silent	Liver
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52954	c.?	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944938	c.2006C>T	p.S669F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3580257	c.1255C>A	p.P419T	Substitution - Missense	Skin
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5944901	c.2408G>A	p.R803K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231560	c.2206C>T	p.R736C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231560	c.2206C>T	p.R736C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5430394	c.254C>T	p.S85L	Substitution - Missense	Oesophagus
COSM133737	c.2207G>A	p.R736H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878772	c.2163G>C	p.K721N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52991	c.?	p.A368D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87012	c.1903C>T	p.R635W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1019227	c.2223G>A	p.A741A	Substitution - coding silent	Endometrium
COSM3670305	c.2204A>T	p.Y735F	Substitution - Missense	Central_nervous_system
COSM5945715	c.2116G>A	p.G706R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2911791	c.1390A>T	p.K464*	Substitution - Nonsense	Large_intestine
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4999829	c.1714G>T	p.A572S	Substitution - Missense	Pancreas
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231549	c.2309C>T	p.S770L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM120499	c.2638A>G	p.M880V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4169955	c.2395C>G	p.P799A	Substitution - Missense	Kidney
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133726	c.1572T>A	p.C524*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3839161	c.1815C>T	p.L605L	Substitution - coding silent	Breast
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383544	c.2194T>C	p.F732L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4778495	c.324G>A	p.G108G	Substitution - coding silent	Liver
COSM5608290	c.1993G>A	p.V665M	Substitution - Missense	Skin
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144548	c.?	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1666937	c.?	p.D712A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583143	c.2153C>G	p.P718R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5989771	c.1810C>T	p.R604W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318925	c.1490G>A	p.C497Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3708347	c.2077A>T	p.K693*	Substitution - Nonsense	Liver
COSM5878790	c.1917_1920delCTTT	p.F640fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5878778	c.2111T>G	p.V704G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383605	c.886G>T	p.V296L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4170084	c.1297_1298insCA	p.K433fs*219	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5878794	c.1913C>T	p.S638F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166528	c.2222C>T	p.A741V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383588	c.1067A>G	p.Q356R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878853	c.1120C>T	p.Q374*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52949	c.?	p.F909C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144551	c.?	p.R635W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583062	c.1430_1433delAGCG	p.E477fs*173	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1204298	c.1138G>A	p.A380T	Substitution - Missense	Large_intestine
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5752684	c.2524C>T	p.Q842*	Substitution - Nonsense	Breast
COSM139379	c.1291C>T	p.P431S	Substitution - Missense	Skin
COSM1738189	c.1157_1163delTGTGCCA	p.V386fs*19	Deletion - Frameshift	Adrenal_gland
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5834428	c.1138delG	p.A380fs*27	Deletion - Frameshift	Breast
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133126	c.2204A>G	p.Y735C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766075	c.2598-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5944911	c.2385G>T	p.W795C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4312146	c.953G>A	p.R318Q	Substitution - Missense	Large_intestine
COSM1583082	c.1741T>G	p.W581G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM99742	c.2191_2193delTTC	p.F731del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM52984	c.?	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM249134	c.1713_1721del9	p.A572_A574del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM1407113	c.1385C>T	p.A462V	Substitution - Missense	Large_intestine
COSM5945647	c.1880_1880delC	p.P627fs*24	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944222	c.1965delT	p.Q656fs*49	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166347	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5791036	c.2286C>T	p.G762G	Substitution - coding silent	Breast
COSM442678	c.650A>C	p.K217T	Substitution - Missense	Breast
COSM4383546	c.2189delT	p.L730fs*49	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2270958	c.?	p.?*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1583070	c.1531G>A	p.G511R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1717669	c.1154delC	p.P385fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583074	c.1665C>A	p.C555*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1668759	c.2283G>A	p.M761I	Substitution - Missense	Large_intestine
COSM4383554	c.2095G>C	p.G699R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4991721	c.1487C>T	p.S496F	Substitution - Missense	Skin
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716839	c.?	p.S663fs*42	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5708161	c.356A>T	p.E119V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583104	c.2120G>T	p.G707V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Salivary_gland
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87009	c.2312G>T	p.R771L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133126	c.2204A>G	p.Y735C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133732	c.2312G>A	p.R771Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM249142	c.2185C>T	p.R729W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4385558	c.805_806insG	p.A269fs*12	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87012	c.1903C>T	p.R635W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM120499	c.2638A>G	p.M880V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133729	c.327_328insG	p.Q110fs*14	Insertion - Frameshift	Large_intestine
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144548	c.?	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1583086	c.1687G>A	p.V563M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3724495	c.?	p.S304fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1614670	c.1531G>T	p.G511*	Substitution - Nonsense	Liver
COSM144557	c.(1668_1671)ins65	p.557fs*?	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM221578	c.2485A>T	p.K829*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM219133	c.2245C>T	p.R749C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231548	c.2409_2478del70	p.R803fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3720362	c.2191T>G	p.F731V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1690275	c.2054G>A	p.G685E	Substitution - Missense	Skin
COSM5944220	c.1998delT	p.C666fs*39	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM391173	c.1342_1343insT	p.Y448fs*25	Insertion - Frameshift	Lung
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878784	c.2083-2A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53093	c.1846_1846delG	p.E616fs*35	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5636904	c.2730G>A	p.A910A	Substitution - coding silent	Oesophagus
COSM5354535	c.258G>A	p.E86E	Substitution - coding silent	Large_intestine
COSM144653	c.1729A>T	p.K577*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM133742	c.?	p.W893S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM231561	c.1656_1663CAACTGCT>A	p.N552fs*97	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716169	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166345	c.?	p.?	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM231556	c.1640T>A	p.L547H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5990005	c.2323-1G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133717	c.2389A>T	p.N797Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583138	c.1661G>A	p.C554Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878866	c.897A>T	p.K299N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231560	c.2206C>T	p.R736C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583091	c.2062C>A	p.R688S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583072	c.1640T>C	p.L547P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5468672	c.1122+7G>A	p.?	Unknown	Large_intestine
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583139	c.2255T>G	p.F752C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231558	c.1741T>A	p.W581R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583098	c.2137C>T	p.L713F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4678899	c.1212G>A	p.K404K	Substitution - coding silent	Large_intestine
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5944233	c.853delG	p.E285fs*31	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583140	c.1539G>A	p.M513I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944887	c.2589A>C	p.E863D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878857	c.1031T>C	p.L344P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878748	c.2479-2A>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM130430	c.2095G>A	p.G699S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944212	c.2229delC	p.K744fs*35	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52956	c.?	p.Q515*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM6006719	c.115C>T	p.Q39*	Substitution - Nonsense	Prostate
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM99741	c.2096G>A	p.G699D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM256033	c.1628G>C	p.G543A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM110814	c.?	p.R484W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878868	c.893G>A	p.G298E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1169523	c.?	p.W893*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3743730	c.2581T>C	p.C861R	Substitution - Missense	Liver
COSM1019233	c.1986C>A	p.A662A	Substitution - coding silent	Endometrium
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583061	c.1453_1453delC	p.Q485fs*166	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5095526	c.1579C>T	p.Q527*	Substitution - Nonsense	Thymus
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583143	c.2153C>G	p.P718R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1737880	c.2506_2506delA	p.R836fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1583088	c.1904G>A	p.R635Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583068	c.1481G>A	p.C494Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583066	c.1534G>A	p.G512R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5039303	c.938G>T	p.W313L	Substitution - Missense	Liver
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583151	c.2679G>C	p.W893C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1407104	c.2158C>T	p.R720C	Substitution - Missense	Large_intestine
COSM96342	c.?_?del?	p.R488fs*?	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133741	c.1865_1866insGT	p.Y623fs*29	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4775128	c.1554+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM96343	c.?	p.E523*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM52961	c.?	p.R729Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1019229	c.2058C>T	p.D686D	Substitution - coding silent	Endometrium
COSM144592	c.?	p.R792C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945898	c.887T>G	p.V296G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133732	c.2312G>A	p.R771Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4169553	c.?	p.C549*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87012	c.1903C>T	p.R635W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1012897	c.2370G>T	p.R790S	Substitution - Missense	Lung
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3372726	c.939G>A	p.W313*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5752684	c.2524C>T	p.Q842*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM120499	c.2638A>G	p.M880V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87007	c.2711C>T	p.P904L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1235324	c.2688A>G	p.P896P	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1407106	c.2140T>C	p.S714P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1494841	c.2159G>C	p.R720P	Substitution - Missense	Kidney
COSM4766078	c.2478+1delG	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4777332	c.1278A>C	p.E426D	Substitution - Missense	Breast
COSM5985152	c.1225T>C	p.W409R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303903	c.2323_2408del86	p.S775fs*8	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133138	c.2729C>T	p.A910V	Substitution - Missense	Endometrium
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583088	c.1904G>A	p.R635Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383601	c.955delA	p.S319fs*26	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM133718	c.1477_1477delA	p.I493fs*158	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM133737	c.2207G>A	p.R736H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583138	c.1661G>A	p.C554Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583096	c.2172_2173insA	p.E725fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169957	c.923G>A	p.G308D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583102	c.2114T>C	p.I705T	Substitution - Missense	Thyroid
COSM4991723	c.1152C>T	p.F384F	Substitution - coding silent	Skin
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5945648	c.1643T>C	p.M548T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3910077	c.1342T>C	p.Y448H	Substitution - Missense	Skin
COSM130414	c.2275_2276insT	p.A760fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383584	c.1102G>A	p.A368T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231547	c.2651C>T	p.A884V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5075581	c.2695C>T	p.R899C	Substitution - Missense	Kidney
COSM99739	c.2446C>T	p.Q816*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM249803	c.2128T>A	p.C710S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133730	c.866_866delG	p.G289fs*27	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1166763	c.2706delC	p.F902fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1583064	c.1489T>G	p.C497G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169639	c.55C>T	p.R19W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318927	c.1543C>T	p.Q515*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133732	c.2312G>A	p.R771Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5708154	c.2608T>C	p.F870L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944897	c.2450A>T	p.E817V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5985152	c.1225T>C	p.W409R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3724494	c.?	p.R736C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Lung
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5973722	c.1059G>A	p.A353A	Substitution - coding silent	Upper_aerodigestive_tract
COSM1583129	c.2645G>T	p.R882L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144489	c.1869C>A	p.Y623*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1583145	c.2678G>T	p.W893L	Substitution - Missense	Skin
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87007	c.2711C>T	p.P904L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169950	c.1106T>A	p.I369N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1668759	c.2283G>A	p.M761I	Substitution - Missense	Large_intestine
COSM5878855	c.1066C>T	p.Q356*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5708159	c.1840G>T	p.D614Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133128	c.2261T>G	p.L754R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583090	c.2069T>G	p.V690G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87000	c.2690T>A	p.V897D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583130	c.2693T>C	p.I898T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3839169	c.793G>A	p.V265M	Substitution - Missense	Liver
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944943	c.1959G>C	p.L653F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231574	c.2307_2308insT	p.S770fs*12	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221582	c.2678G>C	p.W893S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231555	c.1598A>G	p.Y533C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM271218	c.841G>A	p.E281K	Substitution - Missense	Large_intestine
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716839	c.?	p.S663fs*42	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4383517	c.2728G>C	p.A910P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169943	c.2198A>G	p.E733G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166528	c.2222C>T	p.A741V	Substitution - Missense	Prostate
COSM5574184	c.2120G>A	p.G707D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583113	c.2302_2302delG	p.D768fs*11	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2911748	c.2264T>C	p.F755S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133720	c.2113A>T	p.I705F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3720632	c.1667+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3719753	c.2597+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878744	c.2577A>C	p.L859F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583110	c.2193_2194insT	p.E733fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1291484	c.457C>T	p.Q153*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383548	c.2159G>A	p.R720H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166346	c.?	p.?fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87010	c.2309C>G	p.S770W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4775185	c.1668-5_1668-1delTCCAG	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133136	c.1964T>A	p.I655N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231563	c.2311C>T	p.R771*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383590	c.1031T>A	p.L344Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1204296	c.1058C>T	p.A353V	Substitution - Missense	Large_intestine
COSM4383580	c.1239delC	p.F414fs*237	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52954	c.?	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM328646	c.2026C>T	p.R676W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944961	c.1639C>T	p.L547F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4789805	c.312G>A	p.G104G	Substitution - coding silent	Liver
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944210	c.2276_2278delTGG	p.V759delV	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM1583125	c.2553_2553delC	p.F851fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144494	c.2284_2285insCCATGG	p.G762>AMG	Complex - insertion inframe	Haematopoietic_and_lymphoid_tissue
COSM1250493	c.2066G>A	p.S689N	Substitution - Missense	Oesophagus
COSM133737	c.2207G>A	p.R736H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231555	c.1598A>G	p.Y533C	Substitution - Missense	Lung
COSM4766067	c.2521A>G	p.K841E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231566	c.2171A>G	p.Y724C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231563	c.2311C>T	p.R771*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1731800	c.162G>C	p.K54N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133727	c.1001_1001delG	p.G334fs*11	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1631937	c.396G>A	p.V132V	Substitution - coding silent	Liver
COSM52984	c.?	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231568	c.2578T>C	p.W860R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2911858	c.266C>T	p.P89L	Substitution - Missense	Large_intestine
COSM4991717	c.2324C>T	p.S775F	Substitution - Missense	Skin
COSM53095	c.2196_2197insT	p.E733fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM94143	c.113G>A	p.R38H	Substitution - Missense	Large_intestine
COSM5985544	c.2695delC	p.R899fs*7	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583118	c.2344_2353del10	p.A782fs*17	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53091	c.943_943delA	p.M315fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1583147	c.2526G>T	p.Q842H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318938	c.2186G>A	p.R729Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583078	c.1583_1585delACG	p.D529del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM256034	c.2396C>G	p.P799R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878782	c.2095G>T	p.G699C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52951	c.?	p.A741V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583126	c.2551_2552delTT	p.F851fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944934	c.2056G>C	p.D686H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133723	c.2255_2257delTCT	p.F752del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87014	c.709C>T	p.Q237*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM249802	c.1748G>A	p.C583Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5025073	c.1463G>T	p.R488L	Substitution - Missense	Breast
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318923	c.1403A>G	p.K468R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944230	c.1506delT	p.T503fs*148	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878851	c.1122+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5878870	c.875T>C	p.I292T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221582	c.2678G>C	p.W893S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144547	c.?	p.R882L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944909	c.2387G>T	p.G796V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231572	c.2407_2476del70	p.R803fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM335620	c.2683G>A	p.V895M	Substitution - Missense	Lung
COSM1583062	c.1430_1433delAGCG	p.E477fs*173	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM133715	c.2120_2120delG	p.G707fs*72	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944895	c.2479-2A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583076	c.1609T>G	p.C537G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5030988	c.1642_1643delAT	p.M548fs*29	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52990	c.?	p.E30A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4385519	c.2422_2437del16	p.T808fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1737968	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87007	c.2711C>T	p.P904L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133737	c.2207G>A	p.R736H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318941	c.2342A>G	p.D781G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5665123	c.1234G>T	p.G412W	Substitution - Missense	Soft_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944881	c.2642G>A	p.S881N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944915	c.2322G>T	p.E774D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166346	c.?	p.?fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133721	c.958C>T	p.R320*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52984	c.?	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144591	c.2333_2333delT	p.V778fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4768018	c.2458G>C	p.E820Q	Substitution - Missense	Biliary_tract
COSM1583105	c.2311C>G	p.R771G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5985150	c.1958T>G	p.L653W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87010	c.2309C>G	p.S770W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133134	c.2257T>G	p.W753G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583135	c.2635A>G	p.N879D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133728	c.767_770delCCAC	p.P256fs*59	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM133737	c.2207G>A	p.R736H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133716	c.2606_2606delG	p.G869fs*12	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5944195	c.2418_2422delATCCA	p.S807fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3372726	c.939G>A	p.W313*	Substitution - Nonsense	Thyroid
COSM166529	c.1769delG	p.G590fs*61	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5424675	c.2636A>G	p.N879S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM232198	c.2278G>C	p.A760P	Substitution - Missense	Skin
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383609	c.793G>T	p.V265L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5834430	c.1136delG	p.R379fs*28	Deletion - Frameshift	Breast
COSM5945645	c.1429+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583083	c.1840G>A	p.D614N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166346	c.?	p.?fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583117	c.2189_2191delTCT	p.F731del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM3364683	c.449-1G>A	p.?	Unknown	Kidney
COSM166527	c.2726T>G	p.F909C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5772441	c.1136G>A	p.R379H	Substitution - Missense	Breast
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133737	c.2207G>A	p.R736H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2911770	c.2037G>A	p.G679G	Substitution - coding silent	Upper_aerodigestive_tract
COSM5944903	c.2407A>G	p.R803G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1494839	c.868T>A	p.F290I	Substitution - Missense	Kidney
COSM158615	c.2168delT	p.L723fs*56	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1583093	c.1998_1998delT	p.C666fs*39	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1583146	c.2504C>T	p.T835M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169640	c.2202C>A	p.F734L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944199	c.1261_1265delGGCCT	p.L422fs*21	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878822	c.1653_1654insT	p.N552fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5878811	c.1717C>T	p.Q573*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM231569	c.2134G>A	p.D712N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878829	c.1576T>A	p.Y526N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1407120	c.575C>T	p.A192V	Substitution - Missense	Large_intestine
COSM3695422	c.1677C>T	p.C559C	Substitution - coding silent	Upper_aerodigestive_tract
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4552946	c.576G>A	p.A192A	Substitution - coding silent	Skin
COSM133125	c.1123-2A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM144495	c.2322+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1666938	c.?	p.V399A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM256033	c.1628G>C	p.G543A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583067	c.1506_1506delT	p.T503fs*148	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52953	c.?	p.R736H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5615054	c.1231delC	p.L411fs*240	Deletion - Frameshift	Lung
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133721	c.958C>T	p.R320*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1668759	c.2283G>A	p.M761I	Substitution - Missense	Large_intestine
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5770823	c.1060T>G	p.F354V	Substitution - Missense	Breast
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944899	c.2408+5G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133135	c.2385G>C	p.W795C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231549	c.2309C>T	p.S770L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52984	c.?	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM256033	c.1628G>C	p.G543A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318931	c.1845delG	p.E616fs*35	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1583132	c.2612C>T	p.P871L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944945	c.1910T>A	p.L637Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1019237	c.1139C>T	p.A380V	Substitution - Missense	Endometrium
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878827	c.1578C>G	p.Y526*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3972167	c.2678G>A	p.W893*	Substitution - Nonsense	Central_nervous_system
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133126	c.2204A>G	p.Y735C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5726169	c.339G>A	p.G113G	Substitution - coding silent	Skin
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133131	c.2254T>C	p.F752L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944950	c.1784T>C	p.L595P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583147	c.2526G>T	p.Q842H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133138	c.2729C>T	p.A910V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231568	c.2578T>C	p.W860R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583127	c.2587G>A	p.E863K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133130	c.2546C>G	p.P849R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231564	c.2203_2203delT	p.Y735fs*44	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1614668	c.1816C>A	p.Q606K	Substitution - Missense	Liver
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166347	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3839165	c.1024G>A	p.E342K	Substitution - Missense	Breast
COSM3839171	c.143T>G	p.V48G	Substitution - Missense	Breast
COSM4383578	c.1242C>G	p.F414L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766074	c.2409-1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5878847	c.1227G>A	p.W409*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5985546	c.768delC	p.T257fs*59	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4169549	c.?	p.V809fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583076	c.1609T>G	p.C537G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318920	c.943delA	p.M315fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM231570	c.2353G>A	p.V785M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583131	c.2602T>G	p.F868V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583099	c.2150A>G	p.N717S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144490	c.1604_1605ins21	p.S535>YDDDGYQS	Complex - insertion inframe	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5889685	c.1520C>T	p.P507L	Substitution - Missense	Skin
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5752684	c.2524C>T	p.Q842*	Substitution - Nonsense	Breast
COSM1637060	c.1717_1725delCAGGCAGCC	p.Q573_A575delQAA	Deletion - In frame	Bone
COSM4093262	c.2251T>A	p.F751I	Substitution - Missense	Stomach
COSM249805	c.2677T>A	p.W893R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221579	c.920C>G	p.P307R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1407120	c.575C>T	p.A192V	Substitution - Missense	Large_intestine
COSM4383603	c.915G>A	p.W305*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5708156	c.2478G>T	p.K826N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4001621	c.1266G>A	p.L422L	Substitution - coding silent	Thyroid
COSM144561	c.1852_1852delG	p.D618fs*33	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM221576	c.859_859delG	p.G287fs*29	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1583065	c.1526_1535del10	p.F509fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1169223	c.?	p.R326H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52964	c.?	p.Q615*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1583059	c.1341_1342insC	p.Y448fs*25	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM74416	c.1241T>C	p.F414S	Substitution - Missense	Ovary
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM99742	c.2191_2193delTTC	p.F731del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM720761	c.2375G>A	p.R792H	Substitution - Missense	Lung
COSM1583087	c.1920_1920delT	p.F640fs*11	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144494	c.2284_2285insCCATGG	p.G762>AMG	Complex - insertion inframe	Haematopoietic_and_lymphoid_tissue
COSM95830	c.480C>T	p.S160S	Substitution - coding silent	Lung
COSM5944208	c.2296_2297delAA	p.K766fs*15	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3839167	c.940T>G	p.W314G	Substitution - Missense	Breast
COSM5944203	c.2554delA	p.M852fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM249135	c.1628G>T	p.G543V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766069	c.2251T>G	p.F751V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944216	c.2137delC	p.L713fs*66	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM99742	c.2191_2193delTTC	p.F731del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM1583140	c.1539G>A	p.M513I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583124	c.2477A>G	p.K826R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4385556	c.940_941insT	p.W314fs*10	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87007	c.2711C>T	p.P904L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1407104	c.2158C>T	p.R720C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231563	c.2311C>T	p.R771*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5735968	c.2371G>A	p.A791T	Substitution - Missense	Small_intestine
COSM231551	c.2580_2597del18	p.C861_R866del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM5762867	c.2098C>G	p.P700A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944893	c.2479-1G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5945649	c.1655_1656insT	p.N553fs*25	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166346	c.?	p.?fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944895	c.2479-2A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383568	c.1524_1525delCT	p.F509fs*36	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM256035	c.1648G>A	p.G550R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166347	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3724507	c.?	p.L566*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4093260	c.2358A>G	p.S786S	Substitution - coding silent	Stomach
COSM1235163	c.2053G>A	p.G685R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4493439	c.414C>T	p.T138T	Substitution - coding silent	Skin
COSM5944214	c.2174-2_2175delAGAG	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52954	c.?	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144493	c.1118T>C	p.L373P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM249137	c.2146G>A	p.V716I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5574186	c.1752C>A	p.Y584*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM166531	c.1429G>T	p.E477*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM231571	c.1502A>G	p.N501S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878860	c.992_993insT	p.G332fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1731191	c.2254T>G	p.F752V	Substitution - Missense	Liver
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583068	c.1481G>A	p.C494Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231575	c.2512A>G	p.N838D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944218	c.2086delC	p.Q696fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166347	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5752077	c.1683_1684insC	p.C562fs*16	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169946	c.2580G>A	p.W860*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM231560	c.2206C>T	p.R736C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133723	c.2255_2257delTCT	p.F752del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM4169550	c.?	p.W581fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53098	c.2318_2322+5del	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM249801	c.1220T>C	p.I407T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133737	c.2207G>A	p.R736H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144555	c.(1516_1518)delC	p.(H506_L508)fs*(143-145)	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4678891	c.1811G>A	p.R604Q	Substitution - Missense	Large_intestine
COSM87012	c.1903C>T	p.R635W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5608288	c.2134G>T	p.D712Y	Substitution - Missense	Skin
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133732	c.2312G>A	p.R771Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5751989	c.1279_1279+1insC	p.E427fs*18	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944125	c.2510_2511insT	p.N838fs*17	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144554	c.?	p.T503A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583121	c.2339T>C	p.I780T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944980	c.981G>A	p.W327*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221582	c.2678G>C	p.W893S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133736	c.1792C>T	p.R598*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383540	c.2193_2195delCTT	p.F732delF	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM219133	c.2245C>T	p.R749C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM95830	c.480C>T	p.S160S	Substitution - coding silent	Large_intestine
COSM133732	c.2312G>A	p.R771Q	Substitution - Missense	Endometrium
COSM1583102	c.2114T>C	p.I705T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166349	c.?	p.?del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5985150	c.1958T>G	p.L653W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87012	c.1903C>T	p.R635W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231549	c.2309C>T	p.S770L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383522	c.2603T>C	p.F868S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583146	c.2504C>T	p.T835M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5785086	c.1082A>G	p.K361R	Substitution - Missense	Breast
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4775120	c.1618T>G	p.C540G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5905479	c.923G>T	p.G308V	Substitution - Missense	Skin
COSM133126	c.2204A>G	p.Y735C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5751872	c.1198G>GT	p.E400fs*9	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM253390	c.?	p.C911Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878815	c.1688_1689delTG	p.V563fs*14	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231563	c.2311C>T	p.R771*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5878864	c.926G>T	p.R309L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583075	c.1581G>C	p.Q527H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM99742	c.2191_2193delTTC	p.F731del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM1583100	c.2129G>C	p.C710S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4583406	c.75C>G	p.D25E	Substitution - Missense	Bone
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1583086	c.1687G>A	p.V563M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87012	c.1903C>T	p.R635W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53099	c.2597+2T>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231560	c.2206C>T	p.R736C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133737	c.2207G>A	p.R736H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166527	c.2726T>G	p.F909C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2911773	c.1992G>T	p.E664D	Substitution - Missense	Stomach
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583148	c.2486A>T	p.K829I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318943	c.2409G>C	p.R803S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM256035	c.1648G>A	p.G550R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133736	c.1792C>T	p.R598*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383535	c.2284G>T	p.G762C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766073	c.177_178insC	p.V60fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM231548	c.2409_2478del70	p.R803fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4766077	c.1122+2T>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5396712	c.1228G>A	p.A410T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166349	c.?	p.?del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4774881	c.1829C>T	p.A610V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133723	c.2255_2257delTCT	p.F752del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM87007	c.2711C>T	p.P904L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87007	c.2711C>T	p.P904L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583150	c.2628C>A	p.D876E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383556	c.2043delC	p.M682fs*23	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5480451	c.601C>T	p.R201C	Substitution - Missense	Large_intestine
COSM5625236	c.2691C>T	p.V897V	Substitution - coding silent	Oesophagus
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133720	c.2113A>T	p.I705F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583075	c.1581G>C	p.Q527H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5708161	c.356A>T	p.E119V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583102	c.2114T>C	p.I705T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3724496	c.?	p.H355fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM249801	c.1220T>C	p.I407T	Substitution - Missense	Kidney
COSM1185847	c.149G>T	p.R50L	Substitution - Missense	Lung
COSM1407120	c.575C>T	p.A192V	Substitution - Missense	Stomach
COSM1583101	c.2086_2086delC	p.Q696fs*9	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52954	c.?	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52954	c.?	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM461049	c.428G>A	p.R143Q	Substitution - Missense	Cervix
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133735	c.941G>A	p.W314*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144593	c.?_?del70	p.R803fs*?	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM133736	c.1792C>T	p.R598*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87007	c.2711C>T	p.P904L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5941632	c.800C>T	p.S267F	Substitution - Missense	Skin
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4383586	c.1097G>C	p.R366P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166344	c.?	p.R882G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133133	c.2666T>C	p.L889P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583145	c.2678G>T	p.W893L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3372728	c.584C>T	p.P195L	Substitution - Missense	Thyroid
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM130430	c.2095G>A	p.G699S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3962693	c.2667G>T	p.L889L	Substitution - coding silent	Lung
COSM5002785	c.321_322insT	p.G108fs*16	Insertion - Frameshift	Pancreas
COSM5944877	c.2679G>T	p.W893C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM120500	c.?	p.E599*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5690519	c.760G>C	p.A254P	Substitution - Missense	Soft_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383607	c.853G>T	p.E285*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM231560	c.2206C>T	p.R736C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166529	c.1769delG	p.G590fs*61	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383519	c.2657A>G	p.Q886R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383582	c.1165G>A	p.D389N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944224	c.1896delG	p.K632fs*19	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169638	c.2501C>T	p.T834I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM219133	c.2245C>T	p.R749C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144556	c.?	p.G550R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM74414	c.2728G>A	p.A910T	Substitution - Missense	Ovary
COSM1583079	c.1743G>A	p.W581*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM221580	c.2345C>A	p.A782D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231575	c.2512A>G	p.N838D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM249135	c.1628G>T	p.G543V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5878768	c.2180_2191del12	p.T727_F731>I	Complex - deletion inframe	Haematopoietic_and_lymphoid_tissue
COSM256036	c.1979A>G	p.Y660C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM249142	c.2185C>T	p.R729W	Substitution - Missense	Stomach
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1161973	c.168G>T	p.K56N	Substitution - Missense	Kidney
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583153	c.?	p.?fs	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87010	c.2309C>G	p.S770W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52986	c.?	p.L805*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169554	c.?	p.W860fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM231548	c.2409_2478del70	p.R803fs*5	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5611252	c.2228_2229CC>TT	p.P743L	Substitution - Missense	Skin
COSM5944483	c.1305_1306insT	p.Y436fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52949	c.?	p.F909C	Substitution - Missense	Pleura
COSM87007	c.2711C>T	p.P904L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM94143	c.113G>A	p.R38H	Substitution - Missense	Lung
COSM231558	c.1741T>A	p.W581R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1407098	c.2713C>T	p.L905L	Substitution - coding silent	Large_intestine
COSM1583102	c.2114T>C	p.I705T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5424675	c.2636A>G	p.N879S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166346	c.?	p.?fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM144495	c.2322+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5762872	c.1076_1077insT	p.N360fs*33	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM256042	c.2669G>A	p.G890D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583090	c.2069T>G	p.V690G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231568	c.2578T>C	p.W860R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1407109	c.1444G>A	p.E482K	Substitution - Missense	Large_intestine
COSM1583092	c.1965_1965delT	p.Q656fs*49	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944206	c.2462delA	p.H821fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5878803	c.1851+5G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166347	c.?	p.?	Unknown	Adrenal_gland
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM295072	c.1179T>C	p.S393S	Substitution - coding silent	Large_intestine
COSM1166033	c.558G>A	p.P186P	Substitution - coding silent	Large_intestine
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4678895	c.1706C>T	p.P569L	Substitution - Missense	Large_intestine
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383558	c.1937G>A	p.G646E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133736	c.1792C>T	p.R598*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1583097	c.2147T>A	p.V716D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM249803	c.2128T>A	p.C710S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3720362	c.2191T>G	p.F731V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3839169	c.793G>A	p.V265M	Substitution - Missense	Breast
COSM4408911	c.1474+4A>C	p.?	Unknown	Oesophagus
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1583148	c.2486A>T	p.K829I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166346	c.?	p.?fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583135	c.2635A>G	p.N879D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318935	c.2153C>T	p.P718L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5430819	c.1407G>T	p.E469D	Substitution - Missense	Oesophagus
COSM1583155	c.?	p.R635Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583109	c.2318T>G	p.L773R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133737	c.2207G>A	p.R736H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM319974	c.77G>T	p.G26V	Substitution - Missense	Lung
COSM1583146	c.2504C>T	p.T835M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5985544	c.2695delC	p.R899fs*7	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM133722	c.1816C>T	p.Q606*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383566	c.1578C>A	p.Y526*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52966	c.?	p.K468R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM256042	c.2669G>A	p.G890D	Substitution - Missense	Breast
COSM231573	c.1776C>G	p.Y592*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1583107	c.2317C>A	p.L773I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5957989	c.2063G>T	p.R688L	Substitution - Missense	Thyroid
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM2911783	c.1555-2A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3724494	c.?	p.R736C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87010	c.2309C>G	p.S770W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4775128	c.1554+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133736	c.1792C>T	p.R598*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1631935	c.1424C>T	p.T475I	Substitution - Missense	Liver
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87012	c.1903C>T	p.R635W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2911852	c.361G>A	p.A121T	Substitution - Missense	Large_intestine
COSM3738126	c.1340C>G	p.A447G	Substitution - Missense	Soft_tissue
COSM256035	c.1648G>A	p.G550R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383542	c.2195T>C	p.F732S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM110815	c.?	p.V716F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM2911783	c.1555-2A>G	p.?	Unknown	Liver
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM168321	c.626G>A	p.R209H	Substitution - Missense	Large_intestine
COSM4766068	c.2390A>C	p.N797T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666632	c.?	p.M880V	Substitution - Missense	Ovary
COSM256035	c.1648G>A	p.G550R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5752684	c.2524C>T	p.Q842*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM52965	c.?	p.K829R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166345	c.?	p.?	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM249800	c.1220T>G	p.I407S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3580259	c.344C>T	p.P115L	Substitution - Missense	Skin
COSM5878813	c.1700_1702delTGG	p.V567delV	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583057	c.317C>G	p.P106R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944940	c.1985C>G	p.A662G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM99741	c.2096G>A	p.G699D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878665	c.2207G>T	p.R736L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944153	c.952C>T	p.R318W	Substitution - Missense	Bone
COSM133723	c.2255_2257delTCT	p.F752del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM1583128	c.2656C>G	p.Q886E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM2911783	c.1555-2A>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583111	c.2272_2274delGTG	p.V758del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53095	c.2196_2197insT	p.E733fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1407117	c.912C>T	p.S304S	Substitution - coding silent	Large_intestine
COSM4678893	c.1758C>T	p.C586C	Substitution - coding silent	Large_intestine
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52952	c.?	p.E477*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231568	c.2578T>C	p.W860R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944984	c.920C>T	p.P307L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144587	c.?	p.I705S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383529	c.2546C>T	p.P849L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878857	c.1031T>C	p.L344P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133739	c.2210T>A	p.L737H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1583082	c.1741T>G	p.W581G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4775146	c.2172C>A	p.Y724*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1583154	c.?	p.L730P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383576	c.1309delA	p.T437fs*214	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM122661	c.2162A>G	p.K721R	Substitution - Missense	Upper_aerodigestive_tract
COSM3972169	c.1619G>A	p.C540Y	Substitution - Missense	Central_nervous_system
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5878803	c.1851+5G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231560	c.2206C>T	p.R736C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583110	c.2193_2194insT	p.E733fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1583128	c.2656C>G	p.Q886E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5887210	c.1668-3C>T	p.?	Unknown	Skin
COSM5924227	c.2083-8C>T	p.?	Unknown	Skin
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5878757	c.2297delA	p.K766fs*13	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52958	c.?	p.P718L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1717669	c.1154delC	p.P385fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3724506	c.?	p.C586Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583084	c.1669T>C	p.C557R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1582845	c.427C>T	p.R143*	Substitution - Nonsense	Stomach
COSM1250495	c.2025G>A	p.V675V	Substitution - coding silent	Oesophagus
COSM5752123	c.1590_1591insA	p.D531fs*15	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1583102	c.2114T>C	p.I705T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5759628	c.2272G>A	p.V758M	Substitution - Missense	Bone
COSM5944966	c.1532G>A	p.G511E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583095	c.2056G>T	p.D686Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52988	c.?	p.R598*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM253391	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144493	c.1118T>C	p.L373P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169552	c.?	p.D781H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87012	c.1903C>T	p.R635W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM249133	c.2057A>G	p.D686G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144492	c.2667_2668delGG	p.G890fs*24	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4678901	c.1164C>T	p.H388H	Substitution - coding silent	Large_intestine
COSM158615	c.2168delT	p.L723fs*56	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM249132	c.2605G>A	p.G869S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5025577	c.1336G>C	p.A446P	Substitution - Missense	Breast
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM720761	c.2375G>A	p.R792H	Substitution - Missense	Lung
COSM231555	c.1598A>G	p.Y533C	Substitution - Missense	Lung
COSM5058825	c.272G>A	p.G91E	Substitution - Missense	Stomach
COSM5878792	c.1913C>G	p.S638C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM99741	c.2096G>A	p.G699D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM249142	c.2185C>T	p.R729W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383540	c.2193_2195delCTT	p.F732delF	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM4383540	c.2193_2195delCTT	p.F732delF	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM4991715	c.2337G>A	p.M779I	Substitution - Missense	Skin
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Liver
COSM52953	c.?	p.R736H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2270957	c.1547_1547delA	p.N516fs*135	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383552	c.2110G>A	p.V704M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166530	c.1513G>T	p.E505*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133129	c.1055G>A	p.S352N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4769280	c.195G>T	p.T65T	Substitution - coding silent	Biliary_tract
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Prostate
COSM1318925	c.1490G>A	p.C497Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144590	c.?_?del86	p.S775fs*?	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1130820	c.1689G>A	p.V563V	Substitution - coding silent	Prostate
COSM249798	c.917G>A	p.W306*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM266404	c.327delG	p.Q110fs*52	Deletion - Frameshift	Large_intestine
COSM4141003	c.1647C>T	p.C549C	Substitution - coding silent	Ovary
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5945836	c.?	p.Y735C	Substitution - Missense	Peritoneum
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1752481	c.632A>C	p.K211T	Substitution - Missense	Urinary_tract
COSM166529	c.1769delG	p.G590fs*61	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4678905	c.364G>A	p.A122T	Substitution - Missense	Large_intestine
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231563	c.2311C>T	p.R771*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM720761	c.2375G>A	p.R792H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87007	c.2711C>T	p.P904L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4093271	c.191A>C	p.D64A	Substitution - Missense	Stomach
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52954	c.?	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM96344	c.?_?del?	p.W305fs*?	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166531	c.1429G>T	p.E477*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4383537	c.2258G>A	p.W753*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5944921	c.2253C>A	p.F751L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM249804	c.2151C>T	p.N717N	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM52959	c.?	p.K841Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5348130	c.314delG	p.S105fs*57	Deletion - Frameshift	Liver
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52968	c.1_2739	p.0	Whole gene deletion	Haematopoietic_and_lymphoid_tissue
COSM231556	c.1640T>A	p.L547H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3798871	c.2640G>A	p.M880I	Substitution - Missense	Urinary_tract
COSM1583156	c.?	p.K826N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583129	c.2645G>T	p.R882L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM94141	c.2687C>T	p.P896L	Substitution - Missense	Lung
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169953	c.2063G>A	p.R688H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666659	c.855+1G>C	p.?	Unknown	Ovary
COSM4963841	c.2412G>T	p.P804P	Substitution - coding silent	Pancreas
COSM52989	c.?	p.P904L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583110	c.2193_2194insT	p.E733fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3724493	c.?	p.G890S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4991713	c.2420C>T	p.S807F	Substitution - Missense	Skin
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133734	c.2191T>C	p.F731L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583131	c.2602T>G	p.F868V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221582	c.2678G>C	p.W893S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2270955	c.994G>A	p.G332R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3724494	c.?	p.R736C	Substitution - Missense	Thyroid
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303902	c.1740_1741insC	p.W581fs*31	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4912014	c.1610G>T	p.C537F	Substitution - Missense	Liver
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4093273	c.75C>T	p.D25D	Substitution - coding silent	Stomach
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM96345	c.?_?del?	p.P264fs*?	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM249799	c.990G>A	p.W330*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5878835	c.1496_1502delGCCTCAA	p.S499fs*150	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1583077	c.1591G>A	p.D531N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383592	c.1015G>A	p.V339M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383590	c.1031T>A	p.L344Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2911781	c.1793G>A	p.R598Q	Substitution - Missense	Large_intestine
COSM5944972	c.1285A>T	p.K429*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133721	c.958C>T	p.R320*	Substitution - Nonsense	Prostate
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318925	c.1490G>A	p.C497Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133124	c.1906G>A	p.V636M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144491	c.2058_2064delCGTCCGC	p.D686fs*17	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM720763	c.2632T>C	p.S878P	Substitution - Missense	Lung
COSM5424675	c.2636A>G	p.N879S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878818	c.1668G>T	p.R556S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944475	c.2197_2198insT	p.E733fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1583099	c.2150A>G	p.N717S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944974	c.1226G>C	p.W409S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1578726	c.1237G>A	p.G413S	Substitution - Missense	Meninges
COSM120501	c.?	p.K766fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM120499	c.2638A>G	p.M880V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM122662	c.2000A>C	p.E667A	Substitution - Missense	Upper_aerodigestive_tract
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM720749	c.144G>T	p.V48V	Substitution - coding silent	Lung
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4678903	c.840C>T	p.D280D	Substitution - coding silent	Large_intestine
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133126	c.2204A>G	p.Y735C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144549	c.?	p.P799R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166345	c.?	p.?	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53097	c.1936+2T>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5878831	c.1573delG	p.A525fs*126	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3372724	c.1204C>T	p.Q402*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM99741	c.2096G>A	p.G699D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133738	c.2032C>T	p.Q678*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5351698	c.2114_2115insG	p.I705fs*8	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5039301	c.939G>T	p.W313C	Substitution - Missense	Liver
COSM303905	c.1928_1929insT	p.A644fs*24	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1583081	c.1779_1779delG	p.L594fs*57	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4383531	c.2524C>G	p.Q842E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4312146	c.953G>A	p.R318Q	Substitution - Missense	Oesophagus
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583083	c.1840G>A	p.D614N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231560	c.2206C>T	p.R736C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2911825	c.862C>T	p.R288W	Substitution - Missense	Large_intestine
COSM4383540	c.2193_2195delCTT	p.F732delF	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144588	c.?	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4383598	c.1005delA	p.K335fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5580894	c.2141C>T	p.S714F	Substitution - Missense	Skin
COSM5878761	c.2183_2197del15	p.G728_F732delGRLFF	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM5985146	c.2640G>T	p.M880I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM249142	c.2185C>T	p.R729W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583120	c.2456T>C	p.L819P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383560	c.1736delA	p.D579fs*72	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5038476	c.1474+2T>G	p.?	Unknown	Skin
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944197	c.1530_1535delTGGAGG	p.G511_G512delGG	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM4383594	c.1011_1013delAGT	p.V339delV	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM5010790	c.2174-1G>A	p.?	Unknown	Kidney
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144558	c.(1740_1743)insC	p.W581fs*31	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1690275	c.2054G>A	p.G685E	Substitution - Missense	Skin
COSM249142	c.2185C>T	p.R729W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583150	c.2628C>A	p.D876E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1716904	c.32A>C	p.D11A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878872	c.802G>A	p.D268N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM256035	c.1648G>A	p.G550R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133132	c.2192T>G	p.F731C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM249135	c.1628G>T	p.G543V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1250497	c.2172C>T	p.Y724Y	Substitution - coding silent	Oesophagus
COSM5549277	c.760G>A	p.A254T	Substitution - Missense	Prostate
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52950	c.?	p.R729W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583126	c.2551_2552delTT	p.F851fs*3	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3724505	c.?	p.G707D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3580250	c.2391C>T	p.N797N	Substitution - coding silent	Skin
COSM1583139	c.2255T>G	p.F752C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM720761	c.2375G>A	p.R792H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231559	c.1994T>G	p.V665G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2911825	c.862C>T	p.R288W	Substitution - Missense	Skin
COSM3695422	c.1677C>T	p.C559C	Substitution - coding silent	Soft_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53092	c.1768_1768delG	p.G590fs*61	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM96346	c.?_?del?	p.D768fs*?	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583079	c.1743G>A	p.W581*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1583099	c.2150A>G	p.N717S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3695422	c.1677C>T	p.C559C	Substitution - coding silent	Large_intestine
COSM5959719	c.2266G>T	p.E756*	Substitution - Nonsense	Thyroid
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169523	c.?	p.W893*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5878862	c.928_935delATTGTGTC	p.I310fs*11	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133721	c.958C>T	p.R320*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM256035	c.1648G>A	p.G550R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3972171	c.776C>G	p.A259G	Substitution - Missense	Central_nervous_system
COSM133124	c.1906G>A	p.V636M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1019239	c.1006T>G	p.F336V	Substitution - Missense	Endometrium
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1583142	c.1945_1963>CG	p.V649fs*13	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM52957	c.?	p.E505*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3939035	c.1671C>A	p.C557*	Substitution - Nonsense	Oesophagus
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM94142	c.652G>C	p.A218P	Substitution - Missense	Lung
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5636904	c.2730G>A	p.A910A	Substitution - coding silent	Soft_tissue
COSM166345	c.?	p.?	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87007	c.2711C>T	p.P904L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4678889	c.2225G>T	p.R742L	Substitution - Missense	Large_intestine
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133131	c.2254T>C	p.F752L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5574184	c.2120G>A	p.G707D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1668759	c.2283G>A	p.M761I	Substitution - Missense	Large_intestine
COSM5785800	c.767C>T	p.P256L	Substitution - Missense	Breast
COSM5989188	c.682G>T	p.E228*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231568	c.2578T>C	p.W860R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231555	c.1598A>G	p.Y533C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169940	c.2183G>A	p.G728D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383562	c.1640T>G	p.L547R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5978300	c.816G>C	p.K272N	Substitution - Missense	Upper_aerodigestive_tract
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133131	c.2254T>C	p.F752L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1725001	c.985delA	p.M329fs*16	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5985146	c.2640G>T	p.M880I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944481	c.1340_1341insC	p.Y448fs*25	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583141	c.1988C>T	p.S663L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4531467	c.1790G>A	p.R597Q	Substitution - Missense	Large_intestine
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144552	c.?	p.G332*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM133737	c.2207G>A	p.R736H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM477209	c.1753A>C	p.M585L	Substitution - Missense	Kidney
COSM3972169	c.1619G>A	p.C540Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM2911866	c.176delC	p.P59fs*13	Deletion - Frameshift	Thyroid
COSM1318933	c.1851+2T>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231554	c.1741T>C	p.W581R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231558	c.1741T>A	p.W581R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944226	c.1779delG	p.L594fs*57	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87012	c.1903C>T	p.R635W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583085	c.1705_1716del12	p.P569_A572del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM158615	c.2168delT	p.L723fs*56	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4795433	c.513G>A	p.R171R	Substitution - coding silent	Liver
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5878770	c.2173+4_2173+19del16	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3719946	c.1123-1_1144del23	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5878750	c.2415G>C	p.L805F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3991222	c.1226G>A	p.W409*	Substitution - Nonsense	Kidney
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87008	c.2210T>G	p.L737R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM99742	c.2191_2193delTTC	p.F731del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM133126	c.2204A>G	p.Y735C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1614666	c.2530A>G	p.K844E	Substitution - Missense	Liver
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133138	c.2729C>T	p.A910V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766076	c.1015-1G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1583146	c.2504C>T	p.T835M	Substitution - Missense	Kidney
COSM1583107	c.2317C>A	p.L773I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583137	c.1527_1528insT	p.V510fs*36	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3839173	c.138G>A	p.R46R	Substitution - coding silent	Breast
COSM4169955	c.2395C>G	p.P799A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583134	c.2696G>A	p.R899H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM256045	c.1990G>A	p.E664K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944485	c.999_1000insCGGACCT	p.G334fs*11	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5347464	c.2718_2721delGGAG	p.K906fs*>6	Deletion - Frameshift	Liver
COSM4383544	c.2194T>C	p.F732L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5396712	c.1228G>A	p.A410T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4768020	c.2350G>A	p.E784K	Substitution - Missense	Biliary_tract
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583133	c.2710C>G	p.P904A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583058	c.1339_1339delG	p.A447fs*204	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1583097	c.2147T>A	p.V716D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5424675	c.2636A>G	p.N879S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5982033	c.?	p.C562Y	Substitution - Missense	Pancreas
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144585	c.?_?del646	p.G646fs*?	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4531467	c.1790G>A	p.R597Q	Substitution - Missense	Skin
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1012896	c.2731T>C	p.C911R	Substitution - Missense	Lung
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166345	c.?	p.?	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52954	c.?	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1583071	c.1502A>C	p.N501T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3724508	c.?	p.G673S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM158615	c.2168delT	p.L723fs*56	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87007	c.2711C>T	p.P904L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583104	c.2120G>T	p.G707V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878759	c.2278delG	p.A760fs*19	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM120499	c.2638A>G	p.M880V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166345	c.?	p.?	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3737036	c.1151_1152insT	p.V386fs*7	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169555	c.?	p.K589fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1583106	c.2309C>A	p.S770*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1318929	c.1843C>T	p.Q615*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM3839169	c.793G>A	p.V265M	Substitution - Missense	Liver
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169955	c.2395C>G	p.P799A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4093264	c.1574C>T	p.A525V	Substitution - Missense	Stomach
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169556	c.?	p.Q231L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144491	c.2058_2064delCGTCCGC	p.D686fs*17	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5944907	c.2391C>A	p.N797K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5752274	c.851_855+2delACGAGGT	p.?	Unknown	Breast
COSM5944936	c.2041A>T	p.I681F	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383596	c.1000_1007delGGCAAATT	p.G334fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM144589	c.?	p.F751L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169641	c.2242G>A	p.D748N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144490	c.1604_1605ins21	p.S535>YDDDGYQS	Complex - insertion inframe	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383550	c.2158C>G	p.R720G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3380118	c.448+7C>T	p.?	Unknown	Pancreas
COSM4093268	c.1307A>G	p.Y436C	Substitution - Missense	Stomach
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5572758	c.1776C>T	p.Y592Y	Substitution - coding silent	Prostate
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166345	c.?	p.?	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1019243	c.899T>C	p.L300P	Substitution - Missense	Endometrium
COSM219133	c.2245C>T	p.R749C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133737	c.2207G>A	p.R736H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4429239	c.248G>A	p.G83D	Substitution - Missense	Oesophagus
COSM5945646	c.1803G>A	p.W601*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4766072	c.1239_1240insG	p.F414fs*7	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3580253	c.2037G>C	p.G679G	Substitution - coding silent	Skin
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133126	c.2204A>G	p.Y735C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144549	c.?	p.P799R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583114	c.2203T>A	p.Y735N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878805	c.1851+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52954	c.?	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM120499	c.2638A>G	p.M880V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144494	c.2284_2285insCCATGG	p.G762>AMG	Complex - insertion inframe	Haematopoietic_and_lymphoid_tissue
COSM1019241	c.919C>T	p.P307S	Substitution - Missense	Endometrium
COSM4766071	c.1945G>T	p.V649L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944970	c.1429+2T>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM249136	c.1685G>A	p.C562Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM720751	c.1455G>C	p.Q485H	Substitution - Missense	Lung
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133734	c.2191T>C	p.F731L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878801	c.1888_1889ins13	p.K630fs*4	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87007	c.2711C>T	p.P904L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766070	c.2206C>G	p.R736G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878780	c.2107C>G	p.L703V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231560	c.2206C>T	p.R736C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944986	c.802G>C	p.D268H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878739	c.2720A>T	p.E907V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5944473	c.2309_2310insCG	p.R771fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM249142	c.2185C>T	p.R729W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM249142	c.2185C>T	p.R729W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583136	c.2644C>G	p.R882G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4908593	c.2204A>C	p.Y735S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4383533	c.2483G>A	p.S828N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169852	c.1_2739del2739	p.0?	Whole gene deletion	Adrenal_gland
COSM4169948	c.2084T>C	p.I695T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5576195	c.2059G>A	p.V687I	Substitution - Missense	Stomach
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4383527	c.2569G>A	p.D857N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166346	c.?	p.?fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221582	c.2678G>C	p.W893S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878841	c.1430-3C>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM219133	c.2245C>T	p.R749C	Substitution - Missense	Skin
COSM4383562	c.1640T>G	p.L547R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1614670	c.1531G>T	p.G511*	Substitution - Nonsense	Liver
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1130817	c.336C>T	p.G112G	Substitution - coding silent	Prostate
COSM4141005	c.192C>T	p.D64D	Substitution - coding silent	Ovary
COSM133736	c.1792C>T	p.R598*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM144494	c.2284_2285insCCATGG	p.G762>AMG	Complex - insertion inframe	Haematopoietic_and_lymphoid_tissue
COSM133127	c.1743G>T	p.W581C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1166763	c.2706delC	p.F902fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5762870	c.1312G>A	p.D438N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878766	c.2193delC	p.F732fs*47	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5878776	c.2116G>T	p.G706W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878788	c.1933A>G	p.T645A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM720758	c.2039A>G	p.K680R	Substitution - Missense	Lung
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169721	c.976C>T	p.R326C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383525	c.2576delT	p.L859fs*22	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5878796	c.1906G>T	p.V636L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4943594	c.325G>T	p.G109W	Substitution - Missense	Liver
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231554	c.1741T>C	p.W581R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1407122	c.274G>A	p.D92N	Substitution - Missense	Large_intestine
COSM219133	c.2245C>T	p.R749C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4766078	c.2478+1delG	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583095	c.2056G>T	p.D686Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5878786	c.1935_1936insA	p.G646fs*22	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM231553	c.2378A>C	p.Y793S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878820	c.1667+1G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133737	c.2207G>A	p.R736H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231556	c.1640T>A	p.L547H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583091	c.2062C>A	p.R688S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM4169551	c.?	p.N797*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM256036	c.1979A>G	p.Y660C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231557	c.1711_1711delG	p.A571fs*80	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2911775	c.1827C>T	p.F609F	Substitution - coding silent	Skin
COSM319975	c.76G>T	p.G26*	Substitution - Nonsense	Lung
COSM3766569	c.27C>T	p.P9P	Substitution - coding silent	Liver
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231549	c.2309C>T	p.S770L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231559	c.1994T>G	p.V665G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169636	c.914G>A	p.W305*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5878799	c.1898C>A	p.P633H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169639	c.55C>T	p.R19W	Substitution - Missense	Soft_tissue
COSM1583064	c.1489T>G	p.C497G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944883	c.2640G>C	p.M880I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133131	c.2254T>C	p.F752L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52948	c.?	p.R803S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5625234	c.2710C>T	p.P904S	Substitution - Missense	Oesophagus
COSM231560	c.2206C>T	p.R736C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3426326	c.1575G>A	p.A525A	Substitution - coding silent	Large_intestine
COSM231567	c.2314T>A	p.F772I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944926	c.2131A>T	p.N711Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3771849	c.510G>T	p.L170L	Substitution - coding silent	Pancreas
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5878833	c.1528delG	p.V510fs*141	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878880	c.691C>T	p.Q231*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87007	c.2711C>T	p.P904L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231556	c.1640T>A	p.L547H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878746	c.2544delT	p.P849fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5985546	c.768delC	p.T257fs*59	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87012	c.1903C>T	p.R635W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231550	c.1904G>C	p.R635P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583119	c.2409_2422del14	p.R803fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878837	c.1474+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383574	c.1344C>A	p.Y448*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM219133	c.2245C>T	p.R749C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1614666	c.2530A>G	p.K844E	Substitution - Missense	Liver
COSM1326281	c.226C>T	p.P76S	Substitution - Missense	Ovary
COSM1614668	c.1816C>A	p.Q606K	Substitution - Missense	Liver
COSM5694766	c.2174-2A>G	p.?	Unknown	Soft_tissue
COSM52952	c.?	p.E477*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583133	c.2710C>G	p.P904A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53094	c.2168_2168delT	p.L723fs*56	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2911762	c.2096delG	p.G699fs*6	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144553	c.?	p.N501S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583153	c.?	p.?fs	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM87003	c.1432C>T	p.R478W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133737	c.2207G>A	p.R736H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4795433	c.513G>A	p.R171R	Substitution - coding silent	Liver
COSM4383529	c.2546C>T	p.P849L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM720753	c.1596C>T	p.G532G	Substitution - coding silent	Lung
COSM5944477	c.1921_1922insT	p.D641fs*27	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1318945	c.2478+2T>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5887212	c.1668-4C>T	p.?	Unknown	Skin
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM219133	c.2245C>T	p.R749C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM249142	c.2185C>T	p.R729W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1169637	c.2502_2531del30	p.T835_K844del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM4807458	c.1263C>T	p.G421G	Substitution - coding silent	Pancreas
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583159	c.?	p.R736A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383570	c.1415delA	p.D472fs*179	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM249137	c.2146G>A	p.V716I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4775183	c.1670_1671delGC	p.C557fs*20	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1012895	c.2704_2706delTTC	p.F902del	Deletion - In frame	Lung
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM249136	c.1685G>A	p.C562Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM720750	c.558G>T	p.P186P	Substitution - coding silent	Lung
COSM133732	c.2312G>A	p.R771Q	Substitution - Missense	Lung
COSM1019235	c.1976G>A	p.R659H	Substitution - Missense	Endometrium
COSM1583136	c.2644C>G	p.R882G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583080	c.1698_1700delGGT	p.V567del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM87011	c.2141C>G	p.S714C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1019245	c.542G>A	p.R181H	Substitution - Missense	Endometrium
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133737	c.2207G>A	p.R736H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3737038	c.2005T>C	p.S669P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5752057	c.2136delC	p.L713fs*66	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144562	c.?	p.A644T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM53096	c.2481_2481delC	p.F827fs*4	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM94141	c.2687C>T	p.P896L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4836021	c.1180G>A	p.D394N	Substitution - Missense	Cervix
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133137	c.?	p.G543A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583060	c.1304_1305insT	p.Y436fs*9	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4093270	c.615G>A	p.E205E	Substitution - coding silent	Stomach
COSM4141003	c.1647C>T	p.C549C	Substitution - coding silent	Ovary
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144560	c.?	p.Q606*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221582	c.2678G>C	p.W893S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Breast
COSM144495	c.2322+1G>A	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133725	c.315C>A	p.S105R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583088	c.1904G>A	p.R635Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144586	c.?	p.Y660C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166346	c.?	p.?fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52984	c.?	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52984	c.?	p.R882S	Substitution - Missense	Pleura
COSM231563	c.2311C>T	p.R771*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231568	c.2578T>C	p.W860R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133135	c.2385G>C	p.W795C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4383564	c.1603T>C	p.S535P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666939	c.?	p.A571S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944955	c.1681G>A	p.E561K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583153	c.?	p.?fs	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583089	c.1896_1896delG	p.K632fs*19	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3708347	c.2077A>T	p.K693*	Substitution - Nonsense	Liver
COSM1012895	c.2704_2706delTTC	p.F902del	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM5351725	c.1420C>A	p.R474S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144562	c.?	p.A644T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM133722	c.1816C>T	p.Q606*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133737	c.2207G>A	p.R736H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231571	c.1502A>G	p.N501S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52945	c.?	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM166346	c.?	p.?fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM166346	c.?	p.?fs*?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87012	c.1903C>T	p.R635W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878807	c.1708_1726del19	p.G570fs*75	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM133721	c.958C>T	p.R320*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM221577	c.2246_2246delG	p.R749fs*30	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3372726	c.939G>A	p.W313*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM52988	c.?	p.R598*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM96341	c.2621A>G	p.Y874C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944201	c.1328_1333delCTGAGG	p.E444_A445delEA	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52946	c.?	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1407124	c.15C>T	p.P5P	Substitution - coding silent	Large_intestine
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583134	c.2696G>A	p.R899H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231571	c.1502A>G	p.N501S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM2270956	c.1975C>T	p.R659C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5878874	c.786delT	p.E263fs*53	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4093273	c.75C>T	p.D25D	Substitution - coding silent	Stomach
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5944228	c.1592_1594delACG	p.D531delD	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM144550	c.?	p.R635G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133729	c.327_328insG	p.Q110fs*14	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM249142	c.2185C>T	p.R729W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM133714	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM231552	c.1644G>A	p.M548I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52954	c.?	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87001	c.2644C>A	p.R882S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583115	c.2318T>C	p.L773P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1583097	c.2147T>A	p.V716D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53095	c.2196_2197insT	p.E733fs*1	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM166348	c.?	p.?	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303913	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM303912	c.?	p.R882?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM52944	c.2645G>A	p.R882H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM53042	c.2644C>T	p.R882C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM87002	c.1627G>T	p.G543C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM99740	c.2645G>C	p.R882P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue

> Text Mining based Variations

[ TOP ]

PMID	Variation	Cancer	Evidence
28713819	mutation	Acute Myeloid Leukemia	Three genes (FLT3, DNMT3A, and NPMc) are found to be predominantly mutated.
28687222	mutation	Myelodysplastic Syndrome	The 6 most commonly identified gene mutations were ASXL1 (8%), DNMT3A (8%), RUNX1 (7%), KRAS (6%), IDH2 (4%), and TP53 (4%).
28634182	mutation	Myelodysplastic Syndrome with Ring Sideroblasts	Screening for recurrently mutated genes in the mononuclear cell fraction revealed mutations in SF3B1 in 39 of 40 cases (97.5%), combined with TET2 and DNMT3A in 11 (28%) and 6 (15%) patients, respectively.
28596252	mutation	Myelodysplastic Syndrome	Moreover, mutations of TET2 or DNMT3A-regulators of cytosine methylation-are among the earliest in myeloid cancers and are even found in healthy adults with cryptic clonal hematopoiesis.
28505169	mutation	Mature T-Cell and NK-Cell Non-Hodgkin Lymphoma	The study identified TP53, NOTCH1 and DNMT3A as the most frequently mutated genes.
28423585	underexpression (mutation)	Non-Small Cell Lung Carcinoma	In vivo detection of DNMT3A mRNA levels in NSCLC tissues and in vitro luciferase assays consistently showed that the allele G significantly decreased DNMT3A transcription.
28345823	mutation	Acute Myeloid Leukemia	The prevalences of IDH1, IDH2 and DNMT3A mutations were 6.2%, 18.5%, and 7.4%, respectively.
28100593	mutation	Acute Myeloid Leukemia	DNMT3A mutations were found in 33 of 157 (21.0%) AML patients.
27899806	mutation	Acute Myeloid Leukemia	More recently, investigators noted that AML patients who achieved complete morphological remission after chemotherapy often have clonal hematopoiesis predominantly marked by either DNMT3A, TET2 or IDH1/2 mutations, which were also present at diagnosis of AML.
27733013	mutation	Chronic Myelomonocytic Leukemia	DNMT3A mutations are seen in 5% of patients with chronic myelomonocytic leukemia (CMML) and thus far, have had an indeterminate prognostic impact on survival.
27983727	mutation	Acute Myeloid Leukemia	Overall, mutations in FLT3, DNMT3A, NPM1 and IDH2 were more specific for pAML whereas UTAF1, STAG2, BCORL1, BCOR, EZH2, JAK2, CBL, PRPF8, SF3B1, ASXL1 and DHX29 were more specific for sAML.
28667884	mutation	Chronic Myelogenous Leukemia, BCR-ABL1 Positive; Myeloid Neoplasm	In 6 patients, we detected mutations in 6 genes commonly mutated in other myeloid neoplasms: ABL1, ASXL1, DNMT3A, IDH1, SETBP1, and TP63.
21067377	Mutation	Acute Myeloid Leukemia	A total of 62 of 281 patients (22.1%) had mutations in DNMT3A that were predicted to affect translation.
21399634	Mutation	Acute Monocytic Leukemia	We discovered mutations in DNMT3A (encoding DNA methyltransferase 3A) in 23 of 112 (20.5%) cases.
21670448	Mutation	Acute Myeloid Leukemia	A total of 489 patients with AML were examined for mutations in DNMT3A by direct sequencing.
22431509	Mutation	T Acute Lymphoblastic Leukemia	Using next-generation sequencing, we identify alteration in gene expression levels of EZH2 and acquired mutations in PRC2-associated genes (DNMT3A and JARID2) in human adult T-ALL.
22489043	Mutation	Myeloproliferative Neoplasm	We searched for mutations in ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 genes in 149 non-CML MPNs, including 127 classic MPNs cases.
22490330	Mutation	Acute Myeloid Leukemia	We show mutations in DNMT3A in 96 of 415 patients with newly diagnosed AML (23.1%).
22722925	Mutation	Acute Myeloid Leukemia	Mutations in DNA methyltransferase (DNMT3A) observed in Acute Myeloid Leukemiapatients disrupt processive methylation.
23305405	Mutation	Acute Myeloid Leukemia	We identified 11 missense mutation,2 nonsense and 30 bp deletion encompassing DNMT3A.
23341344	Mutation	T Acute Lymphoblastic Leukemia	In conclusion, RUNX1 and DNMT3A are frequently mutated in T-ALL and are associated with poor prognosis in early T-ALL.
23603912	Mutation	T Acute Lymphoblastic Leukemia	Importantly, we verified the high rate of DNMT3A mutations (16%) in a larger cohort of adult patients with ETP-ALL (10/68).
23632886	Mutation	Acute Myeloid Leukemia	DNMT3A(mut) were found in 20.9% of AMLs and were associated with older age (P < .0001), higher white blood cell counts (P < .0001), cytogenetically normal AML (CN-AML; P < .0001), NPM1 mutations (P < .0001), FLT3 internal tandem duplications (P < .0001), and IDH1/2 mutations (P < .0001).
24136165	Mutation	Acute Myeloid Leukemia	Driver mutant genes include those of RNA splicing (SF3B1, SRSF2, U2AF1, and ZRSR2), DNA methylation (TET2, DNMT3A, and IDH1/2), chromatin modification (ASXL1 and EZH2), transcription regulation (RUNX1), DNA repair (TP53), signal transduction (CBL, NRAS, and KRAS), and cohesin complex (STAG2).
24512939	Mutation	Acute Myeloid Leukemia	DNMT3A mutations were found in 17/63 (27%) of CN-AML and in 1/16 (6.3%) of CN-MDS patients.
24606448	Mutation	Acute Myeloid Leukemia	Patients with isolated DNMT3A mutations were seen in 4 cases (9%), isolated IDH mutations in 5 (11.1%), while interestingly, two cases showed both DNMT3A and IDH mutations (4.3%).
24649006	overexpression (mutation)	Hepatocellular Carcinoma	An increased expression of DNMT3A was detected, as well as -448A>G polymorphisms of DNMT3A promoter by polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP), confirmed by sequencing.
24656771	Mutation	Acute Myeloid Leukemia	Somatic mutations in DNMT3A, which encodes a de novo DNA methyltransferase, are found in 30% of normal karyotype Acute Myeloid Leukemia(AML) cases.
24866170	Mutation	Acute Myeloid Leukemia	In conclusion, we show that, in CN-AML, the most pronounced changes in DNA methylation occur in non-CGI regions and that DNMT3A mutations confer a pattern of global hypomethylation that specifically targets HOX genes.
25172541	Mutation	Acute Myeloid Leukemia	DNMT3A mutations were identified in 34/120 (28%) of AML patients.
25212276	Mutation	Chronic Myelogenous Leukemia, BCR-ABL1 Positive	Somatic mutations additional to BCR-ABL were found in 5/15 patients (33%) affecting ASXL1, DNMT3A, RUNX1 and TET2.
25281355	Mutation	Acute Myeloid Leukemia	DNMT3A has a significant dominant effect on the clinical features and outcomes of de novo AML patients with concurrent DNMT3A, FLT3 and NPM1 mutations.
25371149	Mutation	Acute Myeloid Leukemia	DNMT3A mutations were stable in 12 of 13 patients presenting with relapse or secondary myelodysplastic syndrome, but were also present in remission samples from 14 patients (at allele frequencies of <1-50%) up to 8 years after initial AML diagnosis, despite the loss of all other molecular AML markers.
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.
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.
25801914	Mutation	Acute Myeloid Leukemia	Consistent with our result, COSMIC database mining demonstrates that the combination of oncogenic RAS and DNMT3A mutations exclusively occurred in patients with JMML, CMML or AML.
25858894	Mutation	Acute Myeloid Leukemia	FLT3-ITD was detected in 51 subjects (23%; 95% CI, 17-28%), R882 mutation of DNMT3A in 17 (6%; 95% CI, 3-9%) and NRAS mutation in 17 (7%; 95% CI, 3-9%).
25964253	Mutation	Acute Myeloid Leukemia	DNMT3A mutations (DNMT3A(MUT)) were identified in 272 patients (30%) and associated with a poorer prognosis than wild-type DNMT3A, but the difference was only seen when the results were stratified according to NPM1 genotype.
26223865	Mutation	Acute Myeloid Leukemia	DNMT3A mutations are frequent in cytogenetically normal Acute Myeloid Leukemia(cn-AML) patients and associated with poor survival.
26234722	Mutation	Acute Myeloid Leukemia	A total of 115 patients who received allogeneic HCT for NK-AML were retrospectively evaluated for the FLT3-ITD, NPM1, CEBPA, DNMT3A, TET2, IDH1/2, WT1, NRAS, ASXL2, FAT1, DNAH11, and GATA2 mutations in diagnostic samples and analyzed for long-term outcomes after allogeneic HCT.
26242829	Hypomethylation; Mutation	Acute Myeloid Leukemia	Aberrant hypomethylation of DNMT3A gene was found in 55.3% (84/152) of AML cases, but the status of DNMT3A hypomethylation was not correlated with the expression of four DNMT3A isoforms as well as DNMT3A mutation.
26256870	Mutation	Myeloproliferative Neoplasm	In addition, mutations in epigenetic regulator genes such as TET2 or DNMT3A are detected in MPNs.
26273797	Mutation	T Acute Lymphoblastic Leukemia	The Molecular Profile of Adult T-Cell Acute Lymphoblastic Leukemia: Mutations in RUNX1 and DNMT3A Are Associated with Poor Prognosis in T-ALL.
26290145	Mutation	Acute Myeloid Leukemia	The DNA methyl-transferase 3A gene (DNMT3A) is the third most frequently mutated gene in cytogenetically normal Acute Myeloid Leukemia(CN-AML) patients (20-30 %), who belong to a group of patients with intermediate risk.
26434589	Mutation	Acute Myeloid Leukemia	In recent years, somatic missense mutations of the DNA methyltransferase 3A (DNMT3A) have been reported in ~20% of AML patients; however, no obvious critical downstream gene has been identified that could explain the role of DNMT3A in the natural history of AML.
26458438	Mutation	Myeloproliferative Neoplasm	Myeloproliferative neoplasms (MPNs) arise from hematopoietic stem cells (HSCs) with genetic abnormalities in combination with mutations in JAK2, MPL or CALR, which induce autosomal JAK-STAT pathway activation, and mutations in epigenetic regulator genes such as TET2 or DNMT3A.
26725349	Mutation	Acute Myeloid Leukemia	A new class of gene mutations, identified in the pathogenesis of adult Acute Myeloid Leukemia(AML), includes DNMT3A, IDH1/2, TET2 and EZH2.
27148573	mutation (loss of function)	T Acute Lymphoblastic Leukemia	Whole-exome sequencing of leukemic blasts revealed heterozygous gain-of-function driver mutations in NOTCH1, CSF3R, and PTPN11, and a homozygous/hemizygous loss-of-function mutation in DNMT3A.
27149454	Mutation	Acute Myeloid Leukemia	Effects (hazard ratios [HRs] with 95% confidence interval [CI]) of relapse-free survival (RFS) and overall survival (OS) were pooled to estimate the prognostic power of mutant DNMT3A R882 in overall patients and subgroups of AML patients.
27203213	Mutation	Monomorphic T/NK-Cell Post-Transplant Lymphoproliferative Disorder	Mutations of epigenetic modifier genes (TET2, KMT2C, KMT2D, DNMT3A, ARID1B, ARID2, KDM6B, n=11). and inactivation of TP53 by mutation and/or deletion(n=6) were the most frequent alterations, seen across disease subtypes, followed by mutations of JAK/STAT pathway genes (n=5).
27208809	Mutation	Mixed Phenotype Acute Leukemia	Mixed-phenotype acute leukemia (MPAL) exhibits frequent mutations in DNMT3A and activated signaling genes.
27335278	Mutation	Acute Myeloid Leukemia	Mutations in DNA methyltransferase 3A (DNMT3A) are common in Acute Myeloid Leukemiaand portend a poor prognosis; thus, new therapeutic strategies are needed.
27344947	Mutation	Acute Myeloid Leukemia	Epigenetic Perturbations by Arg882-Mutated DNMT3A Potentiate Aberrant Stem Cell Gene-Expression Program and Acute Leukemia Development.
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).
27476855	Mutation	Acute Myeloid Leukemia	Mutational remission, defined as clearance of pre-treatment DNMT3A R882 and all other AML-associated mutations to a variant allele frequency 3%, occurred in 14 patients whereas persistent DNMT3A R882 mutations were observed in 42 patients.
27636548	Mutation	Acute Myeloid Leukemia	Acute Myeloid Leukemiawith del(9q) is characterized by frequent mutations of NPM1, DNMT3A, WT1 and low expression of TLE4.
27724883	Mutation	Acute Myeloid Leukemia	DNMT3A mutations are frequently discovered in Acute Myeloid Leukemia(AML), associated with poor outcome.

Summary
Symbol	DNMT3A
Name	DNA methyltransferase 3 alpha
Aliases	DNMT3A2; M.HsaIIIA; TBRS; DNA MTase HsaIIIA; DNA cytosine methyltransferase 3A2; DNA methyltransferase HsaII ......
Location	2p23.3
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
Q9Y6K1	124	T	Phosphothreonine	-	No	None detected
Q9Y6K1	171	R	Omega-N-methylarginine	-	No	None detected
Q9Y6K1	243	S	Phosphoserine	-	No	None detected
Q9Y6K1	255	S	Phosphoserine	-	No	None detected
Q9Y6K1	261	T	Phosphothreonine	-	No	None detected
Q9Y6K1	267	S	Phosphoserine	-	No	None detected
Q9Y6K1	390	S	Phosphoserine	-	No	None detected
Q9Y6K1	393	S	Phosphoserine	-	No	None detected

Summary
Symbol	DNMT3A
Name	DNA methyltransferase 3 alpha
Aliases	DNMT3A2; M.HsaIIIA; TBRS; DNA MTase HsaIIIA; DNA cytosine methyltransferase 3A2; DNA methyltransferase HsaII ......
Location	2p23.3
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)

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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	4.331	5.063	0.852	5.15e-06	Over
BRCA	Breast invasive carcinoma	112	1100	4.114	5.024	0.94	3.1e-49	Over
CESC	Cervical and endocervical cancers	3	306	4.25	4.998	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	4.247	4.678	0.309	0.00377	NS
ESCA	Esophageal carcinoma	11	185	4.594	4.515	0.054	0.874	NS
GBM	Glioblastoma multiforme	5	166	4.249	4.391	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	3.853	4.17	0.33	0.00635	NS
KIRC	Kidney renal clear cell carcinoma	72	534	4.059	4.277	0.181	0.00198	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	4.065	4.388	0.222	0.123	NS
LAML	Acute Myeloid Leukemia	0	173	NA	6.199	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	3.818	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	2.748	3.924	1.185	9.63e-18	Over
LUAD	Lung adenocarcinoma	59	517	4.065	5.207	1.152	1.71e-31	Over
LUSC	Lung squamous cell carcinoma	51	501	4.083	5.249	1.207	5.35e-32	Over
OV	Ovarian serous cystadenocarcinoma	0	307	NA	5.521	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	4.876	4.561	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	4.631	4.071	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	3.928	4.404	0.491	8.29e-11	NS
READ	Rectum adenocarcinoma	10	167	4.293	4.716	0.447	0.0123	NS
SARC	Sarcoma	2	263	3.919	4.515	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	4.963	4.896	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	4.24	4.517	0.276	0.0642	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	6.609	NA	NA	NA
THCA	Thyroid carcinoma	59	509	3.936	4.134	0.22	1.83e-05	NS
THYM	Thymoma	2	120	5.672	5.693	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	4.485	5.667	1.238	8.84e-23	Over

> Cancer Cell Line Encyclopedia (CCLE)

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Tissue	Cell Line	Expression Level (Microarray)
Autonomic ganglia	CHP126	7.2
Autonomic ganglia	CHP212	6.1
Autonomic ganglia	IMR32	7.3
Autonomic ganglia	KELLY	8.3
Autonomic ganglia	KPNRTBM1	6.8
Autonomic ganglia	KPNSI9S	6
Autonomic ganglia	KPNYN	6.9
Autonomic ganglia	MHHNB11	7.9
Autonomic ganglia	NB1	6.9
Autonomic ganglia	NH6	6.7
Autonomic ganglia	SHSY5Y	6.8
Autonomic ganglia	SIMA	6.6
Autonomic ganglia	SKNAS	6.5
Autonomic ganglia	SKNBE2	7.2
Autonomic ganglia	SKNDZ	6.9
Autonomic ganglia	SKNFI	6.6
Autonomic ganglia	SKNSH	6.3
Biliary tract	HUCCT1	5.2
Biliary tract	HUH28	4.9
Biliary tract	SNU1079	6.5
Biliary tract	SNU1196	6.2
Biliary tract	SNU245	5.2
Biliary tract	SNU308	6
Biliary tract	SNU478	5.8
Bone	143B	6.1
Bone	A673	6.5
Bone	CADOES1	6.2
Bone	CAL78	5.4
Bone	G292CLONEA141B1	5.7
Bone	HOS	5.7
Bone	HS706T	5.1
Bone	HS737T	5.3
Bone	HS819T	5.3
Bone	HS821T	5
Bone	HS822T	5.2
Bone	HS863T	5.2
Bone	HS870T	5.3
Bone	HS888T	5.6
Bone	MG63	5
Bone	MHHES1	6.8
Bone	OUMS27	5.6
Bone	RDES	6.9
Bone	SJSA1	5.2
Bone	SKES1	7
Bone	SKNMC	7
Bone	SW1353	5.2
Bone	T173	5.2
Bone	TC71	6.8
Bone	U2OS	5.7
Breast	AU565	6.2
Breast	BT20	6.3
Breast	BT474	6.4
Breast	BT483	6.1
Breast	BT549	5.9
Breast	CAL120	5.5
Breast	CAL148	6.1
Breast	CAL51	5.7
Breast	CAL851	6
Breast	CAMA1	6.3
Breast	DU4475	6.6
Breast	EFM192A	5.7
Breast	EFM19	6.6
Breast	EVSAT	5.2
Breast	HCC1143	5.1
Breast	HCC1187	5.9
Breast	HCC1395	5.1
Breast	HCC1419	5.6
Breast	HCC1428	5.6
Breast	HCC1500	5.8
Breast	HCC1569	5.6
Breast	HCC1599	5.3
Breast	HCC1806	4.9
Breast	HCC1937	5.7
Breast	HCC1954	5.5
Breast	HCC202	7.3
Breast	HCC2157	6.9
Breast	HCC2218	6.6
Breast	HCC38	5.9
Breast	HCC70	5.7
Breast	HDQP1	5.9
Breast	HMC18	5.2
Breast	HS274T	5.2
Breast	HS281T	5.4
Breast	HS343T	5.1
Breast	HS578T	5.6
Breast	HS606T	5.5
Breast	HS739T	5.5
Breast	HS742T	5.3
Breast	JIMT1	5.3
Breast	KPL1	6.2
Breast	MCF7	6.4
Breast	MDAMB134VI	7
Breast	MDAMB157	5.3
Breast	MDAMB175VII	5.5
Breast	MDAMB231	5.3
Breast	MDAMB361	5.8
Breast	MDAMB415	5.2
Breast	MDAMB436	5.7
Breast	MDAMB453	6.4
Breast	MDAMB468	6.2
Breast	SKBR3	6.2
Breast	T47D	5.4
Breast	UACC812	5.5
Breast	UACC893	6.8
Breast	YMB1	5.7
Breast	ZR751	5.6
Breast	ZR7530	5.3
Central nervous system	1321N1	5.4
Central nervous system	42MGBA	5.1
Central nervous system	8MGBA	5.9
Central nervous system	A172	5.2
Central nervous system	AM38	5.1
Central nervous system	BECKER	5.2
Central nervous system	CAS1	5.6
Central nervous system	CCFSTTG1	5.6
Central nervous system	D283MED	6.8
Central nervous system	D341MED	5.6
Central nervous system	DAOY	5.7
Central nervous system	DBTRG05MG	5.2
Central nervous system	DKMG	5.3
Central nervous system	GAMG	5.1
Central nervous system	GB1	4.8
Central nervous system	GI1	6
Central nervous system	GMS10	5.6
Central nervous system	GOS3	5.6
Central nervous system	H4	5.3
Central nervous system	HS683	5.4
Central nervous system	KALS1	5
Central nervous system	KG1C	6.5
Central nervous system	KNS42	5.6
Central nervous system	KNS60	5.4
Central nervous system	KNS81	5.3
Central nervous system	KS1	5.7
Central nervous system	LN18	5.7
Central nervous system	LN229	5.5
Central nervous system	M059K	5.5
Central nervous system	MOGGCCM	5.2
Central nervous system	MOGGUVW	5.4
Central nervous system	NMCG1	4.9
Central nervous system	ONS76	5.2
Central nervous system	SF126	5.2
Central nervous system	SF295	5.2
Central nervous system	SNB19	5.9
Central nervous system	SNU1105	4.8
Central nervous system	SNU201	5.1
Central nervous system	SNU466	5.4
Central nervous system	SNU489	5.1
Central nervous system	SNU626	5.5
Central nervous system	SNU738	5.2
Central nervous system	SW1088	5.4
Central nervous system	SW1783	5.1
Central nervous system	T98G	5.3
Central nervous system	TM31	5.4
Central nervous system	U118MG	5
Central nervous system	U138MG	5.6
Central nervous system	U251MG	5.6
Central nervous system	U87MG	5.2
Central nervous system	YH13	5.8
Central nervous system	YKG1	5.5
Endometrium	AN3CA	6
Endometrium	COLO684	5.9
Endometrium	EFE184	5.6
Endometrium	EN	5.6
Endometrium	ESS1	5.7
Endometrium	HEC108	5.2
Endometrium	HEC151	5.7
Endometrium	HEC1A	5.3
Endometrium	HEC1B	5.1
Endometrium	HEC251	6.1
Endometrium	HEC265	5.3
Endometrium	HEC50B	5.8
Endometrium	HEC59	4.6
Endometrium	HEC6	5.2
Endometrium	ISHIKAWAHERAKLIO02ER	6.3
Endometrium	JHUEM1	5.8
Endometrium	JHUEM2	6.1
Endometrium	JHUEM3	5.7
Endometrium	KLE	6
Endometrium	MFE280	7.3
Endometrium	MFE296	6.5
Endometrium	MFE319	5.3
Endometrium	RL952	5.3
Endometrium	SNGM	5.3
Endometrium	SNU1077	6
Endometrium	SNU685	5.4
Endometrium	TEN	5.9
Haematopoietic and lymphoid	697	7.6
Haematopoietic and lymphoid	A3KAW	5.5
Haematopoietic and lymphoid	A4FUK	5.4
Haematopoietic and lymphoid	ALLSIL	7.4
Haematopoietic and lymphoid	AML193	6.7
Haematopoietic and lymphoid	AMO1	5.4
Haematopoietic and lymphoid	BCP1	5.2
Haematopoietic and lymphoid	BDCM	6
Haematopoietic and lymphoid	BL41	5.3
Haematopoietic and lymphoid	BL70	5.3
Haematopoietic and lymphoid	BV173	7.7
Haematopoietic and lymphoid	CA46	6
Haematopoietic and lymphoid	CI1	5.1
Haematopoietic and lymphoid	CMK115	6.3
Haematopoietic and lymphoid	CMK86	5.8
Haematopoietic and lymphoid	CMK	6.6
Haematopoietic and lymphoid	CMLT1	7.6
Haematopoietic and lymphoid	COLO775	5.3
Haematopoietic and lymphoid	DAUDI	5.2
Haematopoietic and lymphoid	DB	5.2
Haematopoietic and lymphoid	DEL	4.8
Haematopoietic and lymphoid	DND41	6.4
Haematopoietic and lymphoid	DOHH2	5.5
Haematopoietic and lymphoid	EB1	5.2
Haematopoietic and lymphoid	EB2	5.2
Haematopoietic and lymphoid	EHEB	6.4
Haematopoietic and lymphoid	EJM	6.3
Haematopoietic and lymphoid	EM2	5.5
Haematopoietic and lymphoid	EOL1	6.6
Haematopoietic and lymphoid	F36P	7.2
Haematopoietic and lymphoid	GA10	5.5
Haematopoietic and lymphoid	GDM1	5.7
Haematopoietic and lymphoid	GRANTA519	7.1
Haematopoietic and lymphoid	HDLM2	5.5
Haematopoietic and lymphoid	HDMYZ	5.6
Haematopoietic and lymphoid	HEL9217	6.4
Haematopoietic and lymphoid	HEL	5.9
Haematopoietic and lymphoid	HH	5.1
Haematopoietic and lymphoid	HL60	5.9
Haematopoietic and lymphoid	HPBALL	7.2
Haematopoietic and lymphoid	HS604T	5.7
Haematopoietic and lymphoid	HS611T	6.1
Haematopoietic and lymphoid	HS616T	5.3
Haematopoietic and lymphoid	HS751T	5
Haematopoietic and lymphoid	HT	5.4
Haematopoietic and lymphoid	HTK	5.6
Haematopoietic and lymphoid	HUNS1	6.2
Haematopoietic and lymphoid	HUT102	5.4
Haematopoietic and lymphoid	HUT78	6.4
Haematopoietic and lymphoid	JEKO1	8
Haematopoietic and lymphoid	JK1	5.3
Haematopoietic and lymphoid	JM1	7.1
Haematopoietic and lymphoid	JURKAT	6.9
Haematopoietic and lymphoid	JURLMK1	5.4
Haematopoietic and lymphoid	JVM2	6.3
Haematopoietic and lymphoid	JVM3	6.1
Haematopoietic and lymphoid	K562	6.3
Haematopoietic and lymphoid	KARPAS299	5.5
Haematopoietic and lymphoid	KARPAS422	5.3
Haematopoietic and lymphoid	KARPAS620	5.1
Haematopoietic and lymphoid	KASUMI1	6.9
Haematopoietic and lymphoid	KASUMI2	7.1
Haematopoietic and lymphoid	KASUMI6	5.6
Haematopoietic and lymphoid	KCL22	6.2
Haematopoietic and lymphoid	KE37	6.9
Haematopoietic and lymphoid	KE97	5.3
Haematopoietic and lymphoid	KG1	5.8
Haematopoietic and lymphoid	KHM1B	5.6
Haematopoietic and lymphoid	KIJK	5.1
Haematopoietic and lymphoid	KMH2	5.8
Haematopoietic and lymphoid	KMM1	5.4
Haematopoietic and lymphoid	KMS11	6
Haematopoietic and lymphoid	KMS12BM	5.3
Haematopoietic and lymphoid	KMS18	5.1
Haematopoietic and lymphoid	KMS20	5.6
Haematopoietic and lymphoid	KMS21BM	5.5
Haematopoietic and lymphoid	KMS26	5.3
Haematopoietic and lymphoid	KMS27	5.1
Haematopoietic and lymphoid	KMS28BM	6.5
Haematopoietic and lymphoid	KMS34	5.3
Haematopoietic and lymphoid	KO52	6.5
Haematopoietic and lymphoid	KOPN8	7.2
Haematopoietic and lymphoid	KU812	5.7
Haematopoietic and lymphoid	KYO1	5.4
Haematopoietic and lymphoid	L1236	5.6
Haematopoietic and lymphoid	L363	5.7
Haematopoietic and lymphoid	L428	5.2
Haematopoietic and lymphoid	L540	6.4
Haematopoietic and lymphoid	LAMA84	5.1
Haematopoietic and lymphoid	LOUCY	7.3
Haematopoietic and lymphoid	LP1	5.7
Haematopoietic and lymphoid	M07E	6.4
Haematopoietic and lymphoid	MC116	5.8
Haematopoietic and lymphoid	ME1	6.6
Haematopoietic and lymphoid	MEC1	5.7
Haematopoietic and lymphoid	MEC2	6.2
Haematopoietic and lymphoid	MEG01	5.5
Haematopoietic and lymphoid	MHHCALL2	6.6
Haematopoietic and lymphoid	MHHCALL3	6.9
Haematopoietic and lymphoid	MHHCALL4	7.4
Haematopoietic and lymphoid	MINO	8.6
Haematopoietic and lymphoid	MJ	5.1
Haematopoietic and lymphoid	MM1S	5.7
Haematopoietic and lymphoid	MOLM13	6.2
Haematopoietic and lymphoid	MOLM16	6.1
Haematopoietic and lymphoid	MOLM6	6.1
Haematopoietic and lymphoid	MOLP2	5.4
Haematopoietic and lymphoid	MOLP8	5.1
Haematopoietic and lymphoid	MOLT13	7.7
Haematopoietic and lymphoid	MOLT16	7.2
Haematopoietic and lymphoid	MOLT4	7.1
Haematopoietic and lymphoid	MONOMAC1	6.4
Haematopoietic and lymphoid	MONOMAC6	6.7
Haematopoietic and lymphoid	MOTN1	5.5
Haematopoietic and lymphoid	MUTZ5	7.3
Haematopoietic and lymphoid	MV411	6.3
Haematopoietic and lymphoid	NALM19	7.6
Haematopoietic and lymphoid	NALM1	6.5
Haematopoietic and lymphoid	NALM6	7.1
Haematopoietic and lymphoid	NAMALWA	6
Haematopoietic and lymphoid	NB4	6.8
Haematopoietic and lymphoid	NCIH929	5.7
Haematopoietic and lymphoid	NCO2	6.7
Haematopoietic and lymphoid	NOMO1	6.3
Haematopoietic and lymphoid	NUDHL1	6.2
Haematopoietic and lymphoid	NUDUL1	5.9
Haematopoietic and lymphoid	OCIAML2	6.8
Haematopoietic and lymphoid	OCIAML3	7.1
Haematopoietic and lymphoid	OCIAML5	6.8
Haematopoietic and lymphoid	OCILY10	5.5
Haematopoietic and lymphoid	OCILY19	8.2
Haematopoietic and lymphoid	OCILY3	5.7
Haematopoietic and lymphoid	OCIM1	5.8
Haematopoietic and lymphoid	OPM2	5
Haematopoietic and lymphoid	P12ICHIKAWA	6.9
Haematopoietic and lymphoid	P31FUJ	6.4
Haematopoietic and lymphoid	P3HR1	5.6
Haematopoietic and lymphoid	PCM6	6.5
Haematopoietic and lymphoid	PEER	7.6
Haematopoietic and lymphoid	PF382	6.8
Haematopoietic and lymphoid	PFEIFFER	5.5
Haematopoietic and lymphoid	PL21	6.5
Haematopoietic and lymphoid	RAJI	5.5
Haematopoietic and lymphoid	RCHACV	8.1
Haematopoietic and lymphoid	REC1	6.2
Haematopoietic and lymphoid	REH	6.7
Haematopoietic and lymphoid	RI1	7.3
Haematopoietic and lymphoid	RL	5.3
Haematopoietic and lymphoid	RPMI8226	5.7
Haematopoietic and lymphoid	RPMI8402	7.9
Haematopoietic and lymphoid	RS411	7.6
Haematopoietic and lymphoid	SEM	7.5
Haematopoietic and lymphoid	SET2	5.6
Haematopoietic and lymphoid	SIGM5	6.6
Haematopoietic and lymphoid	SKM1	5.1
Haematopoietic and lymphoid	SKMM2	5.2
Haematopoietic and lymphoid	SR786	5
Haematopoietic and lymphoid	ST486	5.5
Haematopoietic and lymphoid	SUDHL10	5.4
Haematopoietic and lymphoid	SUDHL1	5.3
Haematopoietic and lymphoid	SUDHL4	5.5
Haematopoietic and lymphoid	SUDHL5	5.4
Haematopoietic and lymphoid	SUDHL6	5.9
Haematopoietic and lymphoid	SUDHL8	5.2
Haematopoietic and lymphoid	SUPB15	6.9
Haematopoietic and lymphoid	SUPHD1	5.7
Haematopoietic and lymphoid	SUPM2	4.5
Haematopoietic and lymphoid	SUPT11	7.5
Haematopoietic and lymphoid	SUPT1	7.1
Haematopoietic and lymphoid	TALL1	6.5
Haematopoietic and lymphoid	TF1	5.4
Haematopoietic and lymphoid	THP1	6.2
Haematopoietic and lymphoid	TO175T	5.5
Haematopoietic and lymphoid	TOLEDO	5.9
Haematopoietic and lymphoid	U266B1	5.3
Haematopoietic and lymphoid	U937	5.7
Haematopoietic and lymphoid	UT7	5
Haematopoietic and lymphoid	WSUDLCL2	5.1
Kidney	769P	5.2
Kidney	786O	5.3
Kidney	A498	5.4
Kidney	A704	5.3
Kidney	ACHN	6.1
Kidney	BFTC909	5.5
Kidney	CAKI1	5.6
Kidney	CAKI2	5.1
Kidney	CAL54	6
Kidney	KMRC1	5.2
Kidney	KMRC20	5.7
Kidney	KMRC2	5.1
Kidney	KMRC3	5.6
Kidney	OSRC2	5.1
Kidney	RCC10RGB	5.4
Kidney	SNU1272	5.1
Kidney	SNU349	5.8
Kidney	TUHR10TKB	4.9
Kidney	TUHR14TKB	5.4
Kidney	TUHR4TKB	5
Kidney	VMRCRCW	5.2
Kidney	VMRCRCZ	5.5
Large intestine	C2BBE1	6.4
Large intestine	CCK81	5.1
Large intestine	CL11	5.9
Large intestine	CL14	5.6
Large intestine	CL34	5.2
Large intestine	CL40	6.2
Large intestine	COLO205	5.8
Large intestine	COLO320	5.6
Large intestine	COLO678	5.4
Large intestine	CW2	6
Large intestine	DLD1	5.7
Large intestine	GP2D	5.6
Large intestine	HCC56	5.9
Large intestine	HCT116	5.4
Large intestine	HCT15	5.6
Large intestine	HS675T	5.4
Large intestine	HS698T	5.2
Large intestine	HT115	5.5
Large intestine	HT29	5.9
Large intestine	HT55	5.1
Large intestine	KM12	5
Large intestine	LOVO	5.2
Large intestine	LS1034	5.4
Large intestine	LS123	5.4
Large intestine	LS180	5.2
Large intestine	LS411N	5.9
Large intestine	LS513	5.3
Large intestine	MDST8	5.4
Large intestine	NCIH508	5.5
Large intestine	NCIH716	6
Large intestine	NCIH747	5.9
Large intestine	OUMS23	6.9
Large intestine	RCM1	5.5
Large intestine	RKO	5.7
Large intestine	SKCO1	6
Large intestine	SNU1040	5.2
Large intestine	SNU1197	5.2
Large intestine	SNU175	5.3
Large intestine	SNU283	5.1
Large intestine	SNU407	5.2
Large intestine	SNU503	6
Large intestine	SNU61	5.5
Large intestine	SNU81	4.9
Large intestine	SNUC1	5.9
Large intestine	SNUC2A	5.3
Large intestine	SNUC4	5.2
Large intestine	SNUC5	5.7
Large intestine	SW1116	5.8
Large intestine	SW1417	5.4
Large intestine	SW1463	5.6
Large intestine	SW403	5.3
Large intestine	SW480	5.8
Large intestine	SW48	6.3
Large intestine	SW620	6.2
Large intestine	SW837	5.5
Large intestine	SW948	5.7
Large intestine	T84	5.4
Liver	ALEXANDERCELLS	5.5
Liver	C3A	6.5
Liver	HEP3B217	6.6
Liver	HEPG2	7
Liver	HLE	5.5
Liver	HLF	5.1
Liver	HUH1	6.2
Liver	HUH6	6.9
Liver	HUH7	6.1
Liver	JHH1	6.5
Liver	JHH2	5.3
Liver	JHH4	6.3
Liver	JHH5	7
Liver	JHH6	4.9
Liver	JHH7	5.7
Liver	LI7	5.6
Liver	PLCPRF5	6.3
Liver	SKHEP1	5.2
Liver	SNU182	7.1
Liver	SNU387	5
Liver	SNU398	6.8
Liver	SNU423	5.1
Liver	SNU449	6
Liver	SNU475	5.3
Liver	SNU761	6
Liver	SNU878	5
Liver	SNU886	5.2
Lung	A549	5.7
Lung	ABC1	6.6
Lung	BEN	6.6
Lung	CAL12T	6
Lung	CALU1	5.1
Lung	CALU3	6
Lung	CALU6	6.4
Lung	CHAGOK1	5.6
Lung	COLO668	6.1
Lung	COLO699	5.4
Lung	CORL105	4.9
Lung	CORL23	6.1
Lung	CORL24	6.4
Lung	CORL279	5.5
Lung	CORL311	6.9
Lung	CORL47	6.4
Lung	CORL51	6.4
Lung	CORL88	6.4
Lung	CORL95	5.5
Lung	CPCN	6.8
Lung	DMS114	7.3
Lung	DMS153	6.1
Lung	DMS273	6.2
Lung	DMS454	5.2
Lung	DMS53	6.3
Lung	DMS79	7.2
Lung	DV90	4.7
Lung	EBC1	6
Lung	EPLC272H	5.3
Lung	HARA	5.3
Lung	HCC1171	5.7
Lung	HCC1195	7.8
Lung	HCC15	5.9
Lung	HCC2279	6.5
Lung	HCC2935	6.4
Lung	HCC33	6.7
Lung	HCC366	5.4
Lung	HCC4006	5.8
Lung	HCC44	5.4
Lung	HCC78	6
Lung	HCC827	5.9
Lung	HCC95	5.5
Lung	HLC1	5.3
Lung	HLFA	5.6
Lung	HS229T	5.5
Lung	HS618T	5.2
Lung	IALM	6
Lung	KNS62	5.6
Lung	LC1F	5.6
Lung	LC1SQSF	5.5
Lung	LCLC103H	5.1
Lung	LCLC97TM1	5.5
Lung	LK2	6.9
Lung	LOUNH91	5.4
Lung	LU65	5.5
Lung	LU99	6.1
Lung	LUDLU1	5.4
Lung	LXF289	5.6
Lung	MORCPR	6.5
Lung	NCIH1048	6.4
Lung	NCIH1092	6
Lung	NCIH1105	6.4
Lung	NCIH1155	6
Lung	NCIH1184	6.1
Lung	NCIH1299	6
Lung	NCIH1339	5.5
Lung	NCIH1341	5.7
Lung	NCIH1355	6
Lung	NCIH1373	6.1
Lung	NCIH1385	6.2
Lung	NCIH1395	6.3
Lung	NCIH1435	5.9
Lung	NCIH1436	6.3
Lung	NCIH1437	5.3
Lung	NCIH146	6.2
Lung	NCIH1563	5.1
Lung	NCIH1568	5.6
Lung	NCIH1573	6
Lung	NCIH1581	5.7
Lung	NCIH1618	6.2
Lung	NCIH1623	6.1
Lung	NCIH1648	5.5
Lung	NCIH1650	5.4
Lung	NCIH1651	6.5
Lung	NCIH1666	6
Lung	NCIH1693	6.1
Lung	NCIH1694	7.2
Lung	NCIH1703	5.6
Lung	NCIH1734	6.1
Lung	NCIH1755	5.3
Lung	NCIH1781	7.1
Lung	NCIH1792	5.8
Lung	NCIH1793	5.2
Lung	NCIH1836	6.3
Lung	NCIH1838	5.8
Lung	NCIH1869	5.7
Lung	NCIH1876	6.2
Lung	NCIH1915	5.2
Lung	NCIH1930	6.4
Lung	NCIH1944	5.1
Lung	NCIH1963	7.2
Lung	NCIH196	5.7
Lung	NCIH1975	5.6
Lung	NCIH2009	5.8
Lung	NCIH2023	5.8
Lung	NCIH2029	6.5
Lung	NCIH2030	6.1
Lung	NCIH2066	5.9
Lung	NCIH2081	6
Lung	NCIH2085	6.1
Lung	NCIH2087	6.2
Lung	NCIH209	6.2
Lung	NCIH2106	6.8
Lung	NCIH2110	5.2
Lung	NCIH211	8.3
Lung	NCIH2122	5.9
Lung	NCIH2126	5.8
Lung	NCIH2141	6.6
Lung	NCIH2170	6.3
Lung	NCIH2171	7.7
Lung	NCIH2172	5
Lung	NCIH2196	6
Lung	NCIH2227	6.4
Lung	NCIH2228	5.3
Lung	NCIH226	5.7
Lung	NCIH2286	6.1
Lung	NCIH2291	6.2
Lung	NCIH2342	6.2
Lung	NCIH2347	6.2
Lung	NCIH23	6
Lung	NCIH2405	5.5
Lung	NCIH2444	5.8
Lung	NCIH292	4.8
Lung	NCIH322	5.7
Lung	NCIH3255	5.6
Lung	NCIH358	6.2
Lung	NCIH441	6.2
Lung	NCIH446	5.7
Lung	NCIH460	5.4
Lung	NCIH510	6.5
Lung	NCIH520	6.7
Lung	NCIH522	5.4
Lung	NCIH524	6
Lung	NCIH526	6.4
Lung	NCIH596	5.8
Lung	NCIH647	5.7
Lung	NCIH650	6.2
Lung	NCIH661	5.7
Lung	NCIH69	5.7
Lung	NCIH727	5.4
Lung	NCIH810	6.9
Lung	NCIH82	6.8
Lung	NCIH838	5.4
Lung	NCIH841	7.1
Lung	NCIH854	6
Lung	NCIH889	5.9
Lung	PC14	6.1
Lung	RERFLCAD1	6.6
Lung	RERFLCAD2	5.5
Lung	RERFLCAI	5.9
Lung	RERFLCKJ	6
Lung	RERFLCMS	5.5
Lung	RERFLCSQ1	5.2
Lung	SBC5	5.8
Lung	SCLC21H	6.1
Lung	SHP77	6.1
Lung	SKLU1	5.5
Lung	SKMES1	5.7
Lung	SQ1	6
Lung	SW1271	5.6
Lung	SW1573	5.9
Lung	SW900	6.3
Lung	VMRCLCD	6.3
Lung	VMRCLCP	6.3
Oesophagus	COLO680N	5.6
Oesophagus	ECGI10	5.3
Oesophagus	KYSE140	5.7
Oesophagus	KYSE150	5.2
Oesophagus	KYSE180	5.5
Oesophagus	KYSE270	5.7
Oesophagus	KYSE30	5.6
Oesophagus	KYSE410	5.4
Oesophagus	KYSE450	5.2
Oesophagus	KYSE510	5.8
Oesophagus	KYSE520	6.1
Oesophagus	KYSE70	5.1
Oesophagus	OE19	6.5
Oesophagus	OE33	6
Oesophagus	TE10	6.1
Oesophagus	TE11	5.4
Oesophagus	TE14	4.9
Oesophagus	TE15	5.4
Oesophagus	TE1	6.6
Oesophagus	TE4	5.1
Oesophagus	TE5	5.1
Oesophagus	TE6	5.3
Oesophagus	TE8	5.7
Oesophagus	TE9	5.3
Oesophagus	TT	5.8
Ovary	59M	5.6
Ovary	A2780	6.7
Ovary	CAOV3	6.4
Ovary	CAOV4	6.3
Ovary	COLO704	6.6
Ovary	COV318	7.4
Ovary	COV362	5.4
Ovary	COV434	5.1
Ovary	COV504	5.6
Ovary	COV644	5.7
Ovary	EFO21	5.2
Ovary	EFO27	5.3
Ovary	ES2	5.3
Ovary	FUOV1	6.5
Ovary	HEYA8	6
Ovary	HS571T	5.5
Ovary	IGROV1	5.2
Ovary	JHOC5	5.6
Ovary	JHOM1	5.1
Ovary	JHOM2B	5.3
Ovary	JHOS2	5.7
Ovary	JHOS4	6.3
Ovary	KURAMOCHI	5.8
Ovary	MCAS	5.4
Ovary	NIHOVCAR3	6.2
Ovary	OAW28	6
Ovary	OAW42	5.5
Ovary	OC314	6.2
Ovary	OC316	6.2
Ovary	ONCODG1	6.3
Ovary	OV56	5.1
Ovary	OV7	5.2
Ovary	OV90	7.3
Ovary	OVCAR4	5.4
Ovary	OVCAR8	5.6
Ovary	OVISE	5.9
Ovary	OVK18	5.3
Ovary	OVKATE	5.2
Ovary	OVMANA	7.2
Ovary	OVSAHO	5.2
Ovary	OVTOKO	5.7
Ovary	RMGI	6.3
Ovary	RMUGS	6.2
Ovary	SKOV3	5.1
Ovary	SNU119	6.1
Ovary	SNU840	5.9
Ovary	SNU8	5.6
Ovary	TOV112D	6.8
Ovary	TOV21G	5.7
Ovary	TYKNU	6.8
Pancreas	ASPC1	5.5
Pancreas	BXPC3	5.6
Pancreas	CAPAN1	6
Pancreas	CAPAN2	5.9
Pancreas	CFPAC1	6.2
Pancreas	DANG	6.3
Pancreas	HPAC	6.4
Pancreas	HPAFII	6.3
Pancreas	HS766T	5.6
Pancreas	HUPT3	5.9
Pancreas	HUPT4	5.5
Pancreas	KCIMOH1	6.4
Pancreas	KLM1	5.6
Pancreas	KP2	5.3
Pancreas	KP3	5.6
Pancreas	KP4	6.4
Pancreas	L33	6
Pancreas	MIAPACA2	5.5
Pancreas	PANC0203	6
Pancreas	PANC0213	5.4
Pancreas	PANC0327	5.5
Pancreas	PANC0403	6
Pancreas	PANC0504	5.1
Pancreas	PANC0813	6.2
Pancreas	PANC1005	6
Pancreas	PANC1	5.9
Pancreas	PATU8902	6
Pancreas	PATU8988S	5.3
Pancreas	PATU8988T	5.1
Pancreas	PK1	5.9
Pancreas	PK45H	5.5
Pancreas	PK59	5.7
Pancreas	PL45	6
Pancreas	PSN1	5.3
Pancreas	QGP1	6
Pancreas	SNU213	5.1
Pancreas	SNU324	6.6
Pancreas	SNU410	5.4
Pancreas	SU8686	5.6
Pancreas	SUIT2	5.6
Pancreas	SW1990	5.6
Pancreas	T3M4	5.1
Pancreas	TCCPAN2	5.6
Pancreas	YAPC	6.5
Pleura	ACCMESO1	4.9
Pleura	DM3	5.1
Pleura	ISTMES1	5.3
Pleura	ISTMES2	6.5
Pleura	JL1	5.8
Pleura	MPP89	5.6
Pleura	MSTO211H	5.6
Pleura	NCIH2052	5.7
Pleura	NCIH2452	5.9
Pleura	NCIH28	5.5
Prostate	22RV1	5.9
Prostate	DU145	5.7
Prostate	LNCAPCLONEFGC	5.8
Prostate	MDAPCA2B	5.4
Prostate	NCIH660	5.7
Prostate	PC3	5.4
Prostate	VCAP	6.6
Salivary gland	A253	5.5
Salivary gland	YD15	5.4
Skin	A101D	5.5
Skin	A2058	5.6
Skin	A375	5.1
Skin	C32	6
Skin	CHL1	5.3
Skin	CJM	4.9
Skin	COLO679	5.4
Skin	COLO741	6
Skin	COLO783	5.6
Skin	COLO792	5.3
Skin	COLO800	6.1
Skin	COLO818	5.6
Skin	COLO829	6.1
Skin	COLO849	6.1
Skin	G361	5.6
Skin	GRM	5.4
Skin	HMCB	5.5
Skin	HS294T	5.2
Skin	HS600T	5.1
Skin	HS688AT	5.4
Skin	HS695T	5.5
Skin	HS839T	5.4
Skin	HS852T	5.4
Skin	HS895T	5.3
Skin	HS934T	5.3
Skin	HS936T	5.7
Skin	HS939T	5.6
Skin	HS940T	5.4
Skin	HS944T	5.4
Skin	HT144	5.5
Skin	IGR1	5.9
Skin	IGR37	5.5
Skin	IGR39	5.3
Skin	IPC298	5.8
Skin	K029AX	5.7
Skin	LOXIMVI	6.1
Skin	MALME3M	5.8
Skin	MDAMB435S	5.8
Skin	MELHO	6
Skin	MELJUSO	5.9
Skin	MEWO	5.9
Skin	RPMI7951	5.2
Skin	RVH421	5.5
Skin	SH4	5.7
Skin	SKMEL1	6.1
Skin	SKMEL24	5.6
Skin	SKMEL28	5.9
Skin	SKMEL2	5.5
Skin	SKMEL30	5.9
Skin	SKMEL31	5.3
Skin	SKMEL3	6.2
Skin	SKMEL5	5.8
Skin	UACC257	5.8
Skin	UACC62	5.9
Skin	WM115	5.6
Skin	WM1799	5.4
Skin	WM2664	5.6
Skin	WM793	5.3
Skin	WM88	5.4
Skin	WM983B	5.5
Small intestine	HUTU80	5.8
Soft tissue	A204	5.4
Soft tissue	G401	5.5
Soft tissue	G402	5.3
Soft tissue	GCT	5.4
Soft tissue	HS729	5.1
Soft tissue	HT1080	5.4
Soft tissue	KYM1	4.9
Soft tissue	MESSA	6
Soft tissue	RD	7.3
Soft tissue	RH30	6.2
Soft tissue	RH41	7.6
Soft tissue	RKN	5.3
Soft tissue	S117	5.6
Soft tissue	SJRH30	6.9
Soft tissue	SKLMS1	5.3
Soft tissue	SKUT1	5.7
Soft tissue	TE125T	5
Soft tissue	TE159T	5.2
Soft tissue	TE441T	5.7
Soft tissue	TE617T	5.5
Stomach	2313287	5.4
Stomach	AGS	6.9
Stomach	AZ521	5.7
Stomach	ECC10	6.9
Stomach	ECC12	6.1
Stomach	FU97	7.2
Stomach	GCIY	6.5
Stomach	GSS	6
Stomach	GSU	4.7
Stomach	HGC27	6.1
Stomach	HS746T	5.3
Stomach	HUG1N	5.3
Stomach	IM95	5
Stomach	KATOIII	5
Stomach	KE39	6
Stomach	LMSU	5
Stomach	MKN1	5.2
Stomach	MKN45	5.2
Stomach	MKN74	5.5
Stomach	MKN7	6
Stomach	NCCSTCK140	5.5
Stomach	NCIN87	6.2
Stomach	NUGC2	5.3
Stomach	NUGC3	5.3
Stomach	NUGC4	5.9
Stomach	OCUM1	6.2
Stomach	RERFGC1B	6.2
Stomach	SH10TC	5.9
Stomach	SNU16	5
Stomach	SNU1	5.5
Stomach	SNU216	5.1
Stomach	SNU520	6.4
Stomach	SNU5	5.6
Stomach	SNU601	5.5
Stomach	SNU620	4.9
Stomach	SNU668	5.9
Stomach	SNU719	6.7
Stomach	TGBC11TKB	4.8
Thyroid	8305C	5.1
Thyroid	8505C	5.1
Thyroid	BCPAP	5.4
Thyroid	BHT101	5.4
Thyroid	CAL62	5.6
Thyroid	CGTHW1	5.8
Thyroid	FTC133	5.3
Thyroid	FTC238	4.7
Thyroid	ML1	5.9
Thyroid	SW579	6
Thyroid	TT2609C02	5.3
Thyroid	TT	6.3
Upper aerodigestive tract	BHY	5.2
Upper aerodigestive tract	BICR16	5.3
Upper aerodigestive tract	BICR18	6.4
Upper aerodigestive tract	BICR22	5.3
Upper aerodigestive tract	BICR31	5.3
Upper aerodigestive tract	BICR56	5
Upper aerodigestive tract	BICR6	5.4
Upper aerodigestive tract	CAL27	5.2
Upper aerodigestive tract	CAL33	4.8
Upper aerodigestive tract	DETROIT562	5.8
Upper aerodigestive tract	FADU	5.8
Upper aerodigestive tract	HS840T	5.3
Upper aerodigestive tract	HSC2	5.4
Upper aerodigestive tract	HSC3	5.5
Upper aerodigestive tract	HSC4	5.2
Upper aerodigestive tract	PECAPJ15	6.1
Upper aerodigestive tract	PECAPJ34CLONEC12	5.4
Upper aerodigestive tract	PECAPJ41CLONED2	5.4
Upper aerodigestive tract	PECAPJ49	5.6
Upper aerodigestive tract	SCC15	5.7
Upper aerodigestive tract	SCC25	5.2
Upper aerodigestive tract	SCC4	5.9
Upper aerodigestive tract	SCC9	5.5
Upper aerodigestive tract	SNU1076	5.4
Upper aerodigestive tract	SNU1214	4.9
Upper aerodigestive tract	SNU46	5.3
Upper aerodigestive tract	SNU899	5.8
Upper aerodigestive tract	YD10B	5.1
Upper aerodigestive tract	YD38	5.1
Upper aerodigestive tract	YD8	5.1
Urinary tract	5637	6.2
Urinary tract	639V	6.3
Urinary tract	647V	5.3
Urinary tract	BC3C	5.1
Urinary tract	BFTC905	5.9
Urinary tract	CAL29	6.4
Urinary tract	HS172T	5.2
Urinary tract	HT1197	5.4
Urinary tract	HT1376	5.5
Urinary tract	J82	5.7
Urinary tract	JMSU1	6.2
Urinary tract	KMBC2	6.1
Urinary tract	KU1919	5.6
Urinary tract	RT11284	5.4
Urinary tract	RT112	5.2
Urinary tract	RT4	5.6
Urinary tract	SCABER	5.2
Urinary tract	SW1710	4.9
Urinary tract	SW780	5.4
Urinary tract	T24	5.6
Urinary tract	TCCSUP	5.2
Urinary tract	UMUC1	4.6
Urinary tract	UMUC3	5.4
Urinary tract	VMCUB1	5.3

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Expression Level (TPM)
Adipose tissue	6.6
Adrenal gland	8.3
Appendix	14
Bone marrow	5.9
Breast	4.9
Cerebral cortex	9.5
Cervix, uterine	6.6
Colon	6
Duodenum	7
Endometrium	13.4
Epididymis	10.3
Esophagus	5.8
Fallopian tube	9.2
Gallbladder	9.9
Heart muscle	3.8
Kidney	5.1
Liver	1.8
Lung	10.1
Lymph node	13.2
Ovary	15.9
Pancreas	1.2
Parathyroid gland	6.9
Placenta	22.6
Prostate	7.7
Rectum	7.4
Salivary gland	2.5
Seminal vesicle	8.2
Skeletal muscle	8.6
Skin	5.8
Small intestine	8.2
Smooth muscle	10.4
Spleen	13.4
Stomach	6.1
Testis	9.1
Thyroid gland	7.5
Tonsil	8.7
Urinary bladder	8.9

> Text Mining based Expression

[ TOP ]

PMID	Expression	Cancer	Evidence
28423585	underexpression (mutation)	Non-Small Cell Lung Carcinoma	In vivo detection of DNMT3A mRNA levels in NSCLC tissues and in vitro luciferase assays consistently showed that the allele G significantly decreased DNMT3A transcription.
26966018	overexpression	Oral Squamous Cell Carcinoma	DNMT1, DNMT3A, and DNMT3B were overexpressed in 36.9, 26, and 23% of the OSCC patients, respectively.
17549390	Overexpression	Hepatocellular Carcinoma	These results first suggest that hepatocarcinogenesis involves an increased expression of DNMT1, DNMT3a and DNMT3b mRNA and a progressive increase in the number of methylated genes from normal liver, chronic hepatitis/cirrhosis to HCC and secondly that an increase in the DNMT3a and DNMT3b mRNA levels in HCCs relative to their non-cancerous tissues may be a predictor of poor survival.
20543577	Underexpression	Colorectal Carcinoma	We found a significant decrease in mRNA for DNMT1, DNMT3a and DNMT3b, and similar reductions in DNMT1 and DNMT3a protein levels were detected by western blotting.
21887463	Overexpression	Cervical Carcinoma	Our result showed significantly higher levels of CXCR4, DNMT3A, DNMT3B and DNMT1 transcript (p=0.0058, 0.0163, 0.0003 and <0.0001, respectively) levels in cancer tissue as compared to normal samples.
21887466	Overexpression	Gastric Carcinoma	Overexpression of DNMT1, DNMT3A and DNMT3B in gastric cancer tissues was observed in 35 (64.8%), 38 (70.4%) and 28 (51.9%) of 54 cases, respectively.
22011581	Underexpression	Lung Carcinoma	We show that Dnmt3a deficiency significantly promotes tumor growth and progression but not initiation.
22110720	Overexpression	Pancreatic Carcinoma	IHC result suggested the expressions of GLI1, DNMT1 and DNMT3a in PC tissues were all higher than those in adjacent normal tissues (p<0.05).
22733537	Overexpression	Lung Carcinoma	Overexpression of DNA 5'-cytosine-methyltransferase 3A (DNMT3A), which silences genes including tumor suppressor genes (TSG), is involved in many cancers.
22768205	Overexpression	Ovarian Carcinoma	Of the serious tumors, DNMT3a protein expression was significantly higher than that in benign tumor samples (P=0.001); DNMT3b was marginally significant down regulated in ovarian cancers compared to that of the benign tumors (P=0.054); DNMT1 expression has no statistical difference between ovarian cancers and benign tumor tissues (P=0.837).
23593078	Overexpression	Breast Carcinoma	The increased DNMTs transcripts expression, viz., DNMT1, DNMT3a, and DNMT3b, in the breast cancer tissues suggest involvement of the DNMTs in the breast carcinogenesis.
23959088	Overexpression	Testicular Germ Cell Tumor	In clinical samples, DNMT3A2 was significantly overexpressed in malignant testicular tumor, and the expression of DNMT3A2 was inversely correlated with the expression of miR-199a-3p.
24649006	overexpression (mutation)	Hepatocellular Carcinoma	An increased expression of DNMT3A was detected, as well as -448A>G polymorphisms of DNMT3A promoter by polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP), confirmed by sequencing.
24887488	Underexpression	Colorectal Carcinoma	mRNA expression levels of IDH1, DNMT3A, and MYD88, but not IDH2, were significantly decreased in the cancerous tissues comparing with the paired paracancerous normal tissues.
25009393	Overexpression	Gastric Carcinoma	Expression of DNMT1, DNMT3a and DNMT3b in gastric cancer was significantly higher compared to that in the paired control samples (60.0% vs 37.6%, 61.2% vs 4.7%, and 94.1% vs 71.8%, P < 0.01).
25550796	Overexpression	Renal Cell Carcinoma	DNMT1, DNMT3A and DNMT3B proteins were highly expressed in clear cell RCC, papillary RCC and chromophobe RCC tissues than that of no-tumor tissues (all P < 0.05).
25874772	altered expression	Gastric Carcinoma	The de-regulation of the miR-29 family and DNA methyltransferase 3A (DNMT3A) is associated with gastric cancer (GC).
26677113	Overexpression	Bladder Carcinoma	The expression of DNMT3A/3B protein was markedly increased in the bladder carcinoma tissues (P<0.05), and had a negative linear correlation with hepaCAM expression in the same patients according to Pearson's analysis (r=-0.7176/-0.7127, P<0.05).
26708868	Overexpression	Chronic Myelogenous Leukemia, BCR-ABL1 Positive	The expression of DNMT mRNA increases in advanced CML as compared with normal controls and CML-CP, and the increased levels of DNMT mRNA probably correlate with disease progression in CML.
26892683	Overexpression	Astrocytic Tumor	Strong immunopositivity (LI≥25%) for EZH2, DNMT1 and DNMT3B was detected in 52%, 56% and 64% cases of GBMs respectively, which was significantly higher as compared to Grade II/III cases.
26927545	Overexpression	Breast Carcinoma	Breast cancer tissues and breast cancer cell lines (MCF-7, MDA-MB-231, MDA-MB-361, HCC70) showed lower miR-101 expression and higher DNMT3a expression than the adjacent normal breast tissues and normal breast cell line.
26966018	Overexpression	Oral Cavity Squamous Cell Carcinoma	DNMT1, DNMT3A, and DNMT3B were overexpressed in 36.9, 26, and 23 % of the OSCC patients, respectively.
27134162	Underexpression	Chronic Lymphocytic Leukemia	Promoter Hypomethylation and Expression Is Conserved in Mouse Chronic Lymphocytic Leukemia Induced by Decreased or Inactivated Dnmt3a.
27543768	Overexpression	Medulloblastoma	In conclusion, DNMT1, DNMT3A and DNMT3B are highly expressed in human medulloblastoma samples, suggesting that promoter hypermethylation may play a role in medulloblastoma development.
27623253	Overexpression	Squamous Cell Carcinoma	Over-expression of DNMT3A in the invasive component of the tumour was seen in 44% of tumours and was associated with an increased risk of local vulvar recurrence (LVR) (HR=4.51, p=0.012).
27666771	Overexpression	Colorectal Carcinoma	Significant upregulation of DNMT1, DNMT3A, and DNMT3B expression was found in para-carcinoma tissues, compared with the histopathologically unchanged tissues (P<0.05), furthermore, distinguishable expression profiling was observed of target miRNAs in tissues with different distance.
27748882	Overexpression	Ovarian Carcinoma	In the ovarian cancer tissues, DNMT3a expression was upregulated and miR-182 expression was downregulated.

Summary
Symbol	DNMT3A
Name	DNA methyltransferase 3 alpha
Aliases	DNMT3A2; M.HsaIIIA; TBRS; DNA MTase HsaIIIA; DNA cytosine methyltransferase 3A2; DNA methyltransferase HsaII ......
Location	2p23.3
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	0.441	1.2e-20	7.7	58.4	33.9	Gain
BRCA	Breast invasive carcinoma	1075	0.514	1.96e-73	17.9	67.4	14.7	Neutral
CESC	Cervical and endocervical cancers	292	0.425	3.33e-14	4.5	68.8	26.7	Neutral
COAD	Colon adenocarcinoma	449	0.357	6.36e-15	1.6	79.1	19.4	Neutral
ESCA	Esophageal carcinoma	183	0.491	1.8e-12	8.7	53.6	37.7	Gain
GBM	Glioblastoma multiforme	147	0.285	0.000479	6.1	85.7	8.2	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.41	3.16e-22	6.8	73.3	19.8	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.201	3.58e-06	2.7	83	14.3	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	0.334	6.5e-09	2.8	81.9	15.3	Neutral
LAML	Acute Myeloid Leukemia	166	0.11	0.16	0.6	98.8	0.6	Neutral
LGG	Brain Lower Grade Glioma	513	0.1	0.0234	5.1	92	2.9	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.256	7.1e-07	8.5	75.5	15.9	Neutral
LUAD	Lung adenocarcinoma	512	0.506	1.2e-34	6.4	64.3	29.3	Neutral
LUSC	Lung squamous cell carcinoma	498	0.414	4.61e-22	2.8	46.6	50.6	Gain
OV	Ovarian serous cystadenocarcinoma	300	0.629	2.16e-34	17.3	42.7	40	Gain
PAAD	Pancreatic adenocarcinoma	177	0.347	2.19e-06	10.7	81.9	7.3	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.169	0.032	5.6	90.1	4.3	Neutral
PRAD	Prostate adenocarcinoma	491	0.204	5.18e-06	4.7	91	4.3	Neutral
READ	Rectum adenocarcinoma	164	0.285	0.000222	7.3	69.5	23.2	Neutral
SARC	Sarcoma	255	0.398	3.92e-11	36.1	51.8	12.2	Loss
SKCM	Skin Cutaneous Melanoma	367	0.422	3.05e-17	17.2	65.1	17.7	Neutral
STAD	Stomach adenocarcinoma	413	0.266	3.87e-08	7.3	73.6	19.1	Neutral
TGCT	Testicular Germ Cell Tumors	150	0.306	0.000138	2	56.7	41.3	Gain
THCA	Thyroid carcinoma	497	0.352	5.74e-16	2	97.6	0.4	Neutral
THYM	Thymoma	119	0.016	0.863	1.7	97.5	0.8	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.448	6.76e-28	3	75.6	21.4	Neutral

Summary
Symbol	DNMT3A
Name	DNA methyltransferase 3 alpha
Aliases	DNMT3A2; M.HsaIIIA; TBRS; DNA MTase HsaIIIA; DNA cytosine methyltransferase 3A2; DNA methyltransferase HsaII ......
Location	2p23.3
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	-0.421	0	17	408	-0.013	0.777	NS/NA
BRCA	Breast invasive carcinoma	-0.261	6.43e-15	83	785	-0.023	5.62e-21	NS/NA
CESC	Cervical and endocervical cancers	-0.292	1.89e-07	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.458	0	19	297	0.024	0.00241	NS/NA
ESCA	Esophageal carcinoma	-0.358	3.47e-07	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.397	0.00115	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.562	0	20	522	0.038	0.00281	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.362	6.05e-12	24	319	-0.018	2.32e-05	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.597	0	23	275	-0.016	3.55e-06	NS/NA
LAML	Acute Myeloid Leukemia	-0.148	0.0534	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.345	3.56e-16	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.388	5.48e-17	41	373	-0.142	2.04e-30	NS/NA
LUAD	Lung adenocarcinoma	-0.349	5.14e-15	21	456	-0.01	6.03e-08	NS/NA
LUSC	Lung squamous cell carcinoma	-0.334	3.4e-11	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.5	0.178	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.169	0.0223	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.274	0.000157	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.437	0	35	498	-0.072	3.57e-07	NS/NA
READ	Rectum adenocarcinoma	-0.335	0.000652	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.36	2.26e-09	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.402	0	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.357	1.82e-12	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.575	0	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.264	2.63e-10	50	509	-0.039	2.27e-12	NS/NA
THYM	Thymoma	-0.747	0	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.376	9.94e-18	34	431	-0.025	7.28e-30	NS/NA

Summary
Symbol	DNMT3A
Name	DNA methyltransferase 3 alpha
Aliases	DNMT3A2; M.HsaIIIA; TBRS; DNA MTase HsaIIIA; DNA cytosine methyltransferase 3A2; DNA methyltransferase HsaII ......
Location	2p23.3
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	3	High
Appendix	3	High
Bone marrow	1	Low
Breast	3	High
Bronchus	3	High
Caudate	2	Medium
Cerebellum	3	High
Cerebral cortex	2	Medium
Cervix, uterine	3	High
Colon	3	High
Duodenum	3	High
Endometrium	3	High
Epididymis	3	High
Esophagus	3	High
Fallopian tube	3	High
Gallbladder	3	High
Heart muscle	2	Medium
Hippocampus	2	Medium
Kidney	3	High
Liver	3	High
Lung	3	High
Lymph node	3	High
Nasopharynx	3	High
Oral mucosa	3	High
Ovary	3	High
Pancreas	3	High
Parathyroid gland	3	High
Placenta	3	High
Prostate	2	Medium
Rectum	3	High
Salivary gland	3	High
Seminal vesicle	3	High
Skeletal muscle	3	High
Skin	3	High
Small intestine	3	High
Smooth muscle	3	High
Soft tissue	3	High
Spleen	2	Medium
Stomach	3	High
Testis	3	High
Thyroid gland	3	High
Tonsil	3	High
Urinary bladder	3	High
Vagina	3	High

Summary
Symbol	DNMT3A
Name	DNA methyltransferase 3 alpha
Aliases	DNMT3A2; M.HsaIIIA; TBRS; DNA MTase HsaIIIA; DNA cytosine methyltransferase 3A2; DNA methyltransferase HsaII ......
Location	2p23.3
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	0.589	NS	24476821
BRCA	Breast invasive carcinoma	521	2.87e-32	Significant	23000897
COAD	Colon adenocarcinoma	149	1.39e-06	Significant	22810696
GBM	Glioblastoma multiforme	157	0.00137	Significant	26824661
HNSC	Head and Neck squamous cell carcinoma	279	1.36e-22	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	5.52e-05	Significant	26536169
LGG	Brain Lower Grade Glioma	513	2.61e-20	Significant	26824661
LUAD	Lung adenocarcinoma	230	1.68e-12	Significant	25079552
LUSC	Lung squamous cell carcinoma	178	0.00191	Significant	22960745
OV	Ovarian serous cystadenocarcinoma	287	1.02e-18	Significant	21720365
PRAD	Prostate adenocarcinoma	333	6.03e-11	Significant	26544944
READ	Rectum adenocarcinoma	67	0.064	NS	22810696
SKCM	Skin Cutaneous Melanoma	315	0.00413	Significant	26091043
STAD	Stomach adenocarcinoma	277	5.49e-19	Significant	25079317
THCA	Thyroid carcinoma	391	2.33e-07	Significant	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	8.6e-07	Significant	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	0.768	0.206	NS
BRCA	Breast invasive carcinoma	1079	0.981	0.933	NS
CESC	Cervical and endocervical cancers	291	1.528	0.207	NS
COAD	Colon adenocarcinoma	439	1.823	0.0426	Shorter
ESCA	Esophageal carcinoma	184	0.859	0.635	NS
GBM	Glioblastoma multiforme	158	1.191	0.498	NS
HNSC	Head and Neck squamous cell carcinoma	518	0.754	0.148	NS
KIRC	Kidney renal clear cell carcinoma	531	1.819	0.00467	Shorter
KIRP	Kidney renal papillary cell carcinoma	287	1.065	0.869	NS
LAML	Acute Myeloid Leukemia	149	0.412	0.00235	Longer
LGG	Brain Lower Grade Glioma	511	4.746	5.33e-09	Shorter
LIHC	Liver hepatocellular carcinoma	365	1.802	0.0194	Shorter
LUAD	Lung adenocarcinoma	502	1.266	0.276	NS
LUSC	Lung squamous cell carcinoma	494	1.123	0.54	NS
OV	Ovarian serous cystadenocarcinoma	303	0.947	0.792	NS
PAAD	Pancreatic adenocarcinoma	177	0.667	0.181	NS
PCPG	Pheochromocytoma and Paraganglioma	179	759204254.7	0.264	NS
PRAD	Prostate adenocarcinoma	497	472801072.307	0.067	NS
READ	Rectum adenocarcinoma	159	0.736	0.581	NS
SARC	Sarcoma	259	1.86	0.0218	Shorter
SKCM	Skin Cutaneous Melanoma	459	1.1	0.615	NS
STAD	Stomach adenocarcinoma	388	1.025	0.912	NS
TGCT	Testicular Germ Cell Tumors	134	577026062.059	0.325	NS
THCA	Thyroid carcinoma	500	1.922	0.347	NS
THYM	Thymoma	119	0.148	0.0431	Longer
UCEC	Uterine Corpus Endometrial Carcinoma	543	2.336	0.00277	Shorter

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	0.023	0.639	NS
BRCA	Breast invasive carcinoma	1071	0.013	0.664	NS
CESC	Cervical and endocervical cancers	167	-0.112	0.15	NS
COAD	Colon adenocarcinoma	445	0.073	0.122	NS
ESCA	Esophageal carcinoma	162	0.052	0.511	NS
HNSC	Head and Neck squamous cell carcinoma	448	0.096	0.0416	Higher
KIRC	Kidney renal clear cell carcinoma	531	0.119	0.00592	Higher
KIRP	Kidney renal papillary cell carcinoma	260	-0.048	0.441	NS
LIHC	Liver hepatocellular carcinoma	347	0.132	0.0139	Higher
LUAD	Lung adenocarcinoma	507	0.041	0.353	NS
LUSC	Lung squamous cell carcinoma	497	0.025	0.578	NS
OV	Ovarian serous cystadenocarcinoma	302	-0.15	0.00897	Lower
PAAD	Pancreatic adenocarcinoma	176	0.088	0.244	NS
READ	Rectum adenocarcinoma	156	0.032	0.696	NS
SKCM	Skin Cutaneous Melanoma	410	-0.035	0.484	NS
STAD	Stomach adenocarcinoma	392	0.053	0.296	NS
TGCT	Testicular Germ Cell Tumors	81	0.462	1.43e-05	Higher
THCA	Thyroid carcinoma	499	-0.077	0.0849	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	0.104	0.0197	Higher

> Grade

[ TOP ]

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	0.156	0.0102	Higher
HNSC	Head and Neck squamous cell carcinoma	498	0.247	2.43e-08	Higher
KIRC	Kidney renal clear cell carcinoma	525	0.135	0.00201	Higher
LGG	Brain Lower Grade Glioma	514	0.23	1.43e-07	Higher
LIHC	Liver hepatocellular carcinoma	366	0.31	1.35e-09	Higher
OV	Ovarian serous cystadenocarcinoma	296	-0.002	0.976	NS
PAAD	Pancreatic adenocarcinoma	176	0.167	0.0267	Higher
STAD	Stomach adenocarcinoma	406	-0.013	0.793	NS
UCEC	Uterine Corpus Endometrial Carcinoma	534	0.25	4.96e-09	Higher

Summary
Symbol	DNMT3A
Name	DNA methyltransferase 3 alpha
Aliases	DNMT3A2; M.HsaIIIA; TBRS; DNA MTase HsaIIIA; DNA cytosine methyltransferase 3A2; DNA methyltransferase HsaII ......
Location	2p23.3
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	DNMT3A
Name	DNA methyltransferase 3 alpha
Aliases	DNMT3A2; M.HsaIIIA; TBRS; DNA MTase HsaIIIA; DNA cytosine methyltransferase 3A2; DNA methyltransferase HsaII ......
Location	2p23.3
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 ]
There is no record for DNMT3A.

Summary
Symbol	DNMT3A
Name	DNA methyltransferase 3 alpha
Aliases	DNMT3A2; M.HsaIIIA; TBRS; DNA MTase HsaIIIA; DNA cytosine methyltransferase 3A2; DNA methyltransferase HsaII ......
Location	2p23.3
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
22110720	Pancreatic Carcinoma	upstream	GLI1	positive regulation	Over-expression of GLI1 by GLI1 gene transfection (mRNA increased by 655.5±85.9%, and protein increased by 272.3±14.4%.), DNMT1 and DNMT3a mRNA and protein increased by 293.0±14.8% and 578.3±58.5%, 143.5±17.4% and 214.0±18.9%, respectively.
22110720	Pancreatic Carcinoma	partner	DNMT1	correlation	DNMT1 and DNMT3a are regulated by GLI1 in PC, and DNMT1 is its direct target gene.
22489043	Myeloproliferative Neoplasm	upstream	miR-29	negative regulation	The miR-29 family and predicted target genes were among the most strongly anti-correlated miRNA:mRNA pairs; over-expression of miR-29a in vitro repressed several anti-correlated genes (including DNMT3A and DNMT3B) and substantially decreased ovarian cancer cell viability.
22733537	Lung Carcinoma	upstream	MDM2; RB/E2F	Positive regulation; Negative regulation	MDM2 overexpression deregulates the transcriptional control of RB/E2F leading to DNA methyltransferase 3A overexpression in lung cancer.
23959088	Testicular Germ Cell Tumor	upstream	miR-199a-3p	negative regulation	Further characterization of miR-199a-3p revealed that it negatively regulated DNA methylation, partly through targeting DNMT3A.
25281355	Acute Myeloid Leukemia	partner	FLT3; NPM1	concurrent	DNMT3A has a significant dominant effect on the clinical features and outcomes of de novo AML patients with concurrent DNMT3A, FLT3 and NPM1 mutations.
25858894	Acute Myeloid Leukemia	upstream	miR-101	negative regulation	It was determined that miR-101 decreases the occupancy of H3K27me3 by inhibiting EZH2, DNMT3A and EED and decreases the H3K9me3 occupancy on the LMO3 promoter via SUV39H1, SUV39H2, G9a and PHF8.
25874772	Gastric Carcinoma	upstream	miR-29b/c	negative regulation	In 50 paired clinical GC tissue specimens, decreased miR-29b/c was significantly correlated with the degree of differentiation and invasion of the cells and was negatively correlated with DNMT3A expression.
26434589	Acute Myeloid Leukemia	downstream	MEIS1	regulation	Herein, using whole-genome bisulfite sequencing and DNA methylation microarrays, we have identified a key gene undergoing promoter hypomethylation-associated transcriptional reactivation in DNMT3 mutant patients, the leukemogenic HOX cofactor MEIS1.
26927545	Breast Carcinoma	upstream	miR-101	negative regulation	miR-101 may inhibit MDA-MB-231 cell proliferation and migration by repressing DNMT3a expression and up-regulating E-cadherin expression.
26927545	Breast Carcinoma	downstream	E-cadherin	negative regulation	Besides, knockdown of DNMT3a by shRNA increased E-cadherin expression.
27335278	Acute Myeloid Leukemia	downstream	Dot1l	negative regulation	We observed that murine hematopoietic stem cells (HSCs) in which Dnmt3a had been conditionally deleted markedly overexpress the histone 3 lysine 79 (H3K79) methyltransferase, Dot1l.
27344947	Acute Myeloid Leukemia	partner	NRAS	cooperation	Here, we report that the DNMT3A mutational hotspot at Arg882 (DNMT3A(R882H)) cooperates with NRAS mutation to transform hematopoietic stem/progenitor cells and induce acute leukemia development.
27636998	Acute Myeloid Leukemia	partner	FLT3/ITD	cooperation	Functionally, FLT3/ITD and DNMT3A deletion cooperate to expand LT-HSCs, which exhibit enhanced self-renewal in serial re-plating assays.
27724883	Acute Myeloid Leukemia	partner	TWIST1	association	Notably, TWIST1, a critical inducer of epithelial-mesenchymal transition, which underlies the metastasis of carcinomas, was highly expressed in association with R882 mutations.
27748882	Ovarian Carcinoma	downstream	miR-182; Caspase-3 and -9; p53; c-Myc	negative regulation	DNMT3a overexpression inhibited miR-182 expression and caspase-3 and -9 activity and suppressed p53 and c-Myc protein expression in Caov-3 cells.