CR2Cancer

Summary
Symbol	MSH6
Name	mutS homolog 6
Aliases	GTBP; mutS (E. coli) homolog 6; mutS homolog 6 (E. coli); GTMBP; HNPCC5; HSAP; G/T mismatch-binding protein; ......
Location	2p16.3
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

PF01624 MutS domain I
PF05188 MutS domain II
PF05192 MutS domain III
PF05190 MutS family domain IV
PF00488 MutS domain V
PF00855 PWWP domain

Function

Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. Recruited on chromatin in G1 and early S phase via its PWWP domain that specifically binds trimethylated 'Lys-36' of histone H3 (H3K36me3): early recruitment to chromatin to be replicated allowing a quick identification of mismatch repair to initiate the DNA mismatch repair reaction.

Classification

Class	Modification	Substrate	Product	PubMed
Histone modification read	#	H3K36me3	#	21423274

> Gene Ontology [ TOP ]
Biological Process	GO:0000018 regulation of DNA recombination GO:0000710 meiotic mismatch repair GO:0002200 somatic diversification of immune receptors GO:0002204 somatic recombination of immunoglobulin genes involved in immune response GO:0002208 somatic diversification of immunoglobulins involved in immune response GO:0002250 adaptive immune response GO:0002263 cell activation involved in immune response GO:0002285 lymphocyte activation involved in immune response GO:0002312 B cell activation involved in immune response GO:0002366 leukocyte activation involved in immune response GO:0002377 immunoglobulin production GO:0002381 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002440 production of molecular mediator of immune response GO:0002443 leukocyte mediated immunity GO:0002449 lymphocyte mediated immunity GO:0002460 adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains GO:0002562 somatic diversification of immune receptors via germline recombination within a single locus GO:0002566 somatic diversification of immune receptors via somatic mutation GO:0002637 regulation of immunoglobulin production GO:0002639 positive regulation of immunoglobulin production GO:0002694 regulation of leukocyte activation GO:0002696 positive regulation of leukocyte activation GO:0002697 regulation of immune effector process GO:0002699 positive regulation of immune effector process GO:0002700 regulation of production of molecular mediator of immune response GO:0002702 positive regulation of production of molecular mediator of immune response GO:0002703 regulation of leukocyte mediated immunity GO:0002705 positive regulation of leukocyte mediated immunity GO:0002706 regulation of lymphocyte mediated immunity GO:0002708 positive regulation of lymphocyte mediated immunity GO:0002712 regulation of B cell mediated immunity GO:0002714 positive regulation of B cell mediated immunity GO:0002819 regulation of adaptive immune response GO:0002821 positive regulation of adaptive immune response GO:0002822 regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains GO:0002824 positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains GO:0002889 regulation of immunoglobulin mediated immune response GO:0002891 positive regulation of immunoglobulin mediated immune response GO:0006298 mismatch repair GO:0006310 DNA recombination GO:0007126 meiotic nuclear division GO:0007127 meiosis I GO:0007131 reciprocal meiotic recombination GO:0007568 aging GO:0008340 determination of adult lifespan GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage GO:0009314 response to radiation GO:0009411 response to UV GO:0009416 response to light stimulus GO:0010259 multicellular organism aging GO:0016064 immunoglobulin mediated immune response GO:0016444 somatic cell DNA recombination GO:0016445 somatic diversification of immunoglobulins GO:0016446 somatic hypermutation of immunoglobulin genes GO:0016447 somatic recombination of immunoglobulin gene segments GO:0019724 B cell mediated immunity GO:0035825 reciprocal DNA recombination GO:0042113 B cell activation GO:0045190 isotype switching GO:0045191 regulation of isotype switching GO:0045830 positive regulation of isotype switching GO:0045910 negative regulation of DNA recombination GO:0045911 positive regulation of DNA recombination GO:0050864 regulation of B cell activation GO:0050865 regulation of cell activation GO:0050867 positive regulation of cell activation GO:0050871 positive regulation of B cell activation GO:0051052 regulation of DNA metabolic process GO:0051053 negative regulation of DNA metabolic process GO:0051054 positive regulation of DNA metabolic process GO:0051095 regulation of helicase activity GO:0051096 positive regulation of helicase activity GO:0051249 regulation of lymphocyte activation GO:0051251 positive regulation of lymphocyte activation GO:0051321 meiotic cell cycle GO:0097193 intrinsic apoptotic signaling pathway GO:1903046 meiotic cell cycle process
Molecular Function	GO:0000217 DNA secondary structure binding GO:0000287 magnesium ion binding GO:0000400 four-way junction DNA binding GO:0003682 chromatin binding GO:0003684 damaged DNA binding GO:0016887 ATPase activity GO:0030983 mismatched DNA binding GO:0032135 DNA insertion or deletion binding GO:0032137 guanine/thymine mispair binding GO:0032138 single base insertion or deletion binding GO:0032142 single guanine insertion binding GO:0032143 single thymine insertion binding GO:0032356 oxidized DNA binding GO:0032357 oxidized purine DNA binding GO:0032404 mismatch repair complex binding GO:0032405 MutLalpha complex binding GO:0035064 methylated histone binding GO:0042393 histone binding GO:0043531 ADP binding GO:0043566 structure-specific DNA binding
Cellular Component	GO:0000785 chromatin GO:0000790 nuclear chromatin GO:0032300 mismatch repair complex GO:0032301 MutSalpha complex GO:0044454 nuclear chromosome part GO:1990391 DNA repair complex

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa03430 Mismatch repair
Reactome	R-HSA-73894: DNA Repair R-HSA-5358508: Mismatch Repair R-HSA-5358565: Mismatch repair (MMR) directed by MSH2

Summary
Symbol	MSH6
Name	mutS homolog 6
Aliases	GTBP; mutS (E. coli) homolog 6; mutS homolog 6 (E. coli); GTMBP; HNPCC5; HSAP; G/T mismatch-binding protein; ......
Location	2p16.3
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 ]

> Catalogue of Somatic Mutations in Cancer (COSMIC)

[ TOP ]

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM5967525	c.2079_2079delA	p.K693fs*43	Deletion - Frameshift	Large_intestine
COSM34201	c.?	p.?	Unknown	Endometrium
COSM26493	c.741delA	p.K247fs*32	Deletion - Frameshift	Stomach
COSM1645446	c.2764C>T	p.R922*	Substitution - Nonsense	Large_intestine
COSM5025149	c.3725G>A	p.R1242H	Substitution - Missense	Large_intestine
COSM4839928	c.3640G>T	p.E1214*	Substitution - Nonsense	Cervix
COSM1684706	c.1628A>G	p.K543R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5609451	c.4004A>G	p.E1335G	Substitution - Missense	Skin
COSM4991772	c.490C>T	p.H164Y	Substitution - Missense	Skin
COSM5000968	c.2371C>T	p.R791C	Substitution - Missense	Pancreas
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Stomach
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM4800074	c.2588A>C	p.E863A	Substitution - Missense	Liver
COSM33664	c.794T>G	p.F265C	Substitution - Missense	Central_nervous_system
COSM3758251	c.186C>A	p.R62R	Substitution - coding silent	Large_intestine
COSM13388	c.423C>A	p.G141G	Substitution - coding silent	Endometrium
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM1215571	c.2882G>T	p.R961I	Substitution - Missense	Large_intestine
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Stomach
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Stomach
COSM4703374	c.73G>C	p.A25P	Substitution - Missense	Large_intestine
COSM13396	c.1723G>T	p.D575Y	Substitution - Missense	Endometrium
COSM5977725	c.3038A>C	p.K1013T	Substitution - Missense	Central_nervous_system
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Endometrium
COSM330655	c.3254delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM3991335	c.2003C>G	p.S668C	Substitution - Missense	Kidney
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Stomach
COSM3758251	c.186C>A	p.R62R	Substitution - coding silent	Large_intestine
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM4094438	c.2000A>T	p.D667V	Substitution - Missense	Stomach
COSM6005557	c.749T>C	p.V250A	Substitution - Missense	Prostate
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Stomach
COSM4164532	c.2459G>A	p.R820K	Substitution - Missense	Kidney
COSM5451671	c.3103C>T	p.R1035*	Substitution - Nonsense	Large_intestine
COSM1021282	c.2830A>G	p.I944V	Substitution - Missense	Endometrium
COSM4985848	c.2633T>C	p.V878A	Substitution - Missense	Soft_tissue
COSM13892	c.3656C>T	p.T1219I	Substitution - Missense	Skin
COSM5885270	c.?	p.G1072C	Substitution - Missense	Thyroid
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Endometrium
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Large_intestine
COSM1215570	c.1730G>A	p.R577H	Substitution - Missense	Large_intestine
COSM27530	c.?	p.Y214Y	Substitution - coding silent	Central_nervous_system
COSM3734718	c.?	p.R482*	Substitution - Nonsense	Central_nervous_system
COSM4172573	c.?	p.T716R	Substitution - Missense	Skin
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Endometrium
COSM5019860	c.2253T>C	p.N751N	Substitution - coding silent	Soft_tissue
COSM5967519	c.?	p.A175T	Substitution - Missense	Endometrium
COSM94732	c.2009G>T	p.G670V	Substitution - Missense	Lung
COSM5973808	c.257C>T	p.T86I	Substitution - Missense	Upper_aerodigestive_tract
COSM4703373	c.27C>A	p.S9R	Substitution - Missense	Large_intestine
COSM331329	c.2041C>T	p.L681F	Substitution - Missense	Lung
COSM1021263	c.1004_1005delAT	p.T336fs*11	Deletion - Frameshift	Endometrium
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Endometrium
COSM4703379	c.2371C>A	p.R791S	Substitution - Missense	Large_intestine
COSM331329	c.2041C>T	p.L681F	Substitution - Missense	Large_intestine
COSM3407879	c.1354A>G	p.M452V	Substitution - Missense	Central_nervous_system
COSM226502	c.1370C>T	p.A457V	Substitution - Missense	Skin
COSM13891	c.1868C>T	p.P623L	Substitution - Missense	Skin
COSM5967511	c.?	p.R174K	Substitution - Missense	Large_intestine
COSM3581879	c.464A>G	p.K155R	Substitution - Missense	Skin
COSM5967515	c.1944T>C	p.S648S	Substitution - coding silent	Endometrium
COSM34201	c.?	p.?	Unknown	Endometrium
COSM721727	c.2065T>G	p.F689V	Substitution - Missense	Lung
COSM5967522	c.?	p.L613S	Substitution - Missense	Large_intestine
COSM1632018	c.3876A>G	p.G1292G	Substitution - coding silent	Liver
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Central_nervous_system
COSM1021299	c.3300G>A	p.T1100T	Substitution - coding silent	Large_intestine
COSM5991700	c.2685delA	p.N897fs*9	Deletion - Frameshift	Prostate
COSM5967524	c.?	p.V1160I	Substitution - Missense	Large_intestine
COSM1021257	c.533G>A	p.R178H	Substitution - Missense	Endometrium
COSM1327059	c.2386G>A	p.E796K	Substitution - Missense	Ovary
COSM34201	c.?	p.?	Unknown	Endometrium
COSM5695608	c.529C>T	p.Q177*	Substitution - Nonsense	Soft_tissue
COSM79231	c.3132C>G	p.Y1044*	Substitution - Nonsense	Ovary
COSM26816	c.2731C>T	p.R911*	Substitution - Nonsense	Central_nervous_system
COSM34201	c.?	p.?	Unknown	Endometrium
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM330655	c.3254delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM1257983	c.1072G>A	p.D358N	Substitution - Missense	Oesophagus
COSM26723	c.3023C>T	p.T1008I	Substitution - Missense	Skin
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Large_intestine
COSM4169568	c.?	p.T1219I	Substitution - Missense	Central_nervous_system
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM477463	c.3476A>G	p.Y1159C	Substitution - Missense	Kidney
COSM1021297	c.3227G>A	p.R1076H	Substitution - Missense	Endometrium
COSM1021274	c.2248A>C	p.T750P	Substitution - Missense	Endometrium
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Large_intestine
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Stomach
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM298961	c.423C>T	p.G141G	Substitution - coding silent	Large_intestine
COSM330655	c.3254delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM13342	c.3495C>T	p.C1165C	Substitution - coding silent	Central_nervous_system
COSM1021265	c.1118T>C	p.L373P	Substitution - Missense	Endometrium
COSM4133863	c.276A>G	p.P92P	Substitution - coding silent	Thyroid
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM5567927	c.820A>T	p.S274C	Substitution - Missense	Prostate
COSM5702758	c.3463C>T	p.Q1155*	Substitution - Nonsense	Pancreas
COSM393571	c.3467T>A	p.M1156K	Substitution - Missense	Lung
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Stomach
COSM1327059	c.2386G>A	p.E796K	Substitution - Missense	Ovary
COSM5736038	c.3722G>A	p.C1241Y	Substitution - Missense	Small_intestine
COSM5458978	c.3299C>T	p.T1100M	Substitution - Missense	Large_intestine
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM48574	c.773T>C	p.I258T	Substitution - Missense	Lung
COSM5612796	c.862G>T	p.E288*	Substitution - Nonsense	Adrenal_gland
COSM4977687	c.3041A>G	p.K1014R	Substitution - Missense	Oesophagus
COSM5609442	c.1051C>A	p.H351N	Substitution - Missense	Skin
COSM5967514	c.930_931insT	p.K311fs*1	Insertion - Frameshift	Endometrium
COSM1668900	c.3566C>T	p.T1189I	Substitution - Missense	Large_intestine
COSM26722	c.2815C>T	p.Q939*	Substitution - Nonsense	Skin
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Large_intestine
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Endometrium
COSM4703375	c.734_735insA	p.R248fs*8	Insertion - Frameshift	Large_intestine
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM214001	c.1855G>T	p.E619*	Substitution - Nonsense	Breast
COSM1021301	c.3303G>T	p.K1101N	Substitution - Missense	Large_intestine
COSM1021293	c.3083C>T	p.S1028L	Substitution - Missense	Endometrium
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Endometrium
COSM1668900	c.3566C>T	p.T1189I	Substitution - Missense	Large_intestine
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM4094430	c.383G>A	p.R128H	Substitution - Missense	Stomach
COSM25922	c.3581_3582insT	p.L1194fs*3	Insertion - Frameshift	Large_intestine
COSM5609449	c.935G>A	p.R312K	Substitution - Missense	Skin
COSM5415257	c.?_?delG	p.?fs*?	Unknown	Endometrium
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Stomach
COSM1021255	c.297G>T	p.K99N	Substitution - Missense	Endometrium
COSM190064	c.2765G>A	p.R922Q	Substitution - Missense	Stomach
COSM1021276	c.2689A>C	p.N897H	Substitution - Missense	Endometrium
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Large_intestine
COSM5397077	c.3439-1G>A	p.?	Unknown	Skin
COSM5625239	c.188C>T	p.S63F	Substitution - Missense	Oesophagus
COSM4169562	c.2581G>T	p.A861S	Substitution - Missense	Central_nervous_system
COSM29732	c.1483C>T	p.R495*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Endometrium
COSM3758251	c.186C>A	p.R62R	Substitution - coding silent	Large_intestine
COSM4488201	c.3290C>T	p.P1097L	Substitution - Missense	Skin
COSM5809794	c.871A>G	p.N291D	Substitution - Missense	Liver
COSM4411260	c.1572C>A	p.Y524*	Substitution - Nonsense	Kidney
COSM5432617	c.4002-9A>T	p.?	Unknown	Oesophagus
COSM3746543	c.2936T>C	p.L979P	Substitution - Missense	Liver
COSM1021278	c.2694T>C	p.P898P	Substitution - coding silent	Endometrium
COSM288679	c.3964G>T	p.E1322*	Substitution - Nonsense	Large_intestine
COSM222690	c.2270C>T	p.T757I	Substitution - Missense	Skin
COSM1021291	c.3039G>T	p.K1013N	Substitution - Missense	Endometrium
COSM4094437	c.1937A>G	p.K646R	Substitution - Missense	Stomach
COSM48573	c.589G>C	p.D197H	Substitution - Missense	Lung
COSM5978348	c.3151G>A	p.V1051I	Substitution - Missense	Upper_aerodigestive_tract
COSM5048265	c.3016T>C	p.Y1006H	Substitution - Missense	Oesophagus
COSM288679	c.3964G>T	p.E1322*	Substitution - Nonsense	Large_intestine
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Stomach
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Large_intestine
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Stomach
COSM5834463	c.2660delT	p.K888fs*18	Deletion - Frameshift	Breast
COSM5967520	c.?	p.R316M	Substitution - Missense	Endometrium
COSM1666636	c.?	p.K1358fs*2	Unknown	Ovary
COSM3186037	c.3475_3476insA	p.Y1159fs*1	Insertion - Frameshift	Large_intestine
COSM4172509	c.?	p.R1068*	Substitution - Nonsense	Skin
COSM4988649	c.431G>T	p.S144I	Substitution - Missense	Soft_tissue
COSM1021285	c.2876G>A	p.R959H	Substitution - Missense	Endometrium
COSM1021259	c.670G>T	p.E224*	Substitution - Nonsense	Endometrium
COSM4094434	c.1189T>C	p.Y397H	Substitution - Missense	Stomach
COSM1614883	c.1629A>G	p.K543K	Substitution - coding silent	Liver
COSM4774760	c.3802-13_3802-10delTTTC	p.?	Unknown	Stomach
COSM3426486	c.541G>A	p.E181K	Substitution - Missense	Large_intestine
COSM4476481	c.2070C>T	p.Y690Y	Substitution - coding silent	Skin
COSM27533	c.?	p.Q835*	Substitution - Nonsense	Central_nervous_system
COSM26723	c.3023C>T	p.T1008I	Substitution - Missense	Skin
COSM48575	c.3101G>A	p.R1034Q	Substitution - Missense	Lung
COSM13392	c.2410A>T	p.K804*	Substitution - Nonsense	Endometrium
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Endometrium
COSM3758251	c.186C>A	p.R62R	Substitution - coding silent	Thyroid
COSM4703380	c.3698A>C	p.K1233T	Substitution - Missense	Large_intestine
COSM33663	c.560A>C	p.K187T	Substitution - Missense	Central_nervous_system
COSM13399	c.3246G>T	p.P1082P	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1408314	c.3477C>T	p.Y1159Y	Substitution - coding silent	Large_intestine
COSM4169560	c.1801C>G	p.L601V	Substitution - Missense	Central_nervous_system
COSM4957101	c.1097A>T	p.Y366F	Substitution - Missense	Liver
COSM4985848	c.2633T>C	p.V878A	Substitution - Missense	Soft_tissue
COSM5967518	c.?	p.E224*	Substitution - Nonsense	Endometrium
COSM13399	c.3246G>T	p.P1082P	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM1021313	c.3896G>A	p.G1299D	Substitution - Missense	Endometrium
COSM5025148	c.2291C>T	p.T764I	Substitution - Missense	Large_intestine
COSM5576823	c.3766T>A	p.Y1256N	Substitution - Missense	Skin
COSM13343	c.2425delG	p.V809fs*1	Deletion - Frameshift	Central_nervous_system
COSM35885	c.124C>T	p.P42S	Substitution - Missense	Breast
COSM5609445	c.1722A>G	p.S574S	Substitution - coding silent	Skin
COSM4529914	c.1652G>A	p.G551D	Substitution - Missense	Skin
COSM190064	c.2765G>A	p.R922Q	Substitution - Missense	Endometrium
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM4416035	c.3488A>T	p.E1163V	Substitution - Missense	Upper_aerodigestive_tract
COSM288679	c.3964G>T	p.E1322*	Substitution - Nonsense	Large_intestine
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Stomach
COSM3709671	c.3134A>C	p.K1045T	Substitution - Missense	Liver
COSM1408307	c.3071G>A	p.R1024Q	Substitution - Missense	Large_intestine
COSM26816	c.2731C>T	p.R911*	Substitution - Nonsense	Central_nervous_system
COSM5004586	c.1444C>T	p.R482*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Large_intestine
COSM4804870	c.3068A>G	p.E1023G	Substitution - Missense	Liver
COSM330655	c.3254delC	p.F1088fs*2	Deletion - Frameshift	Stomach
COSM94731	c.1646C>T	p.S549F	Substitution - Missense	Lung
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM442969	c.2092C>G	p.Q698E	Substitution - Missense	Breast
COSM1185897	c.1721C>G	p.S574*	Substitution - Nonsense	Lung
COSM3407878	c.965C>T	p.A322V	Substitution - Missense	Central_nervous_system
COSM4657240	c.2320C>T	p.L774L	Substitution - coding silent	Large_intestine
COSM1408313	c.3305_3306insT	p.G1105fs*3	Insertion - Frameshift	Large_intestine
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM3839610	c.1560T>G	p.G520G	Substitution - coding silent	Breast
COSM1408304	c.2195G>A	p.R732Q	Substitution - Missense	Large_intestine
COSM4970472	c.4001G>A	p.R1334Q	Substitution - Missense	Central_nervous_system
COSM1215571	c.2882G>T	p.R961I	Substitution - Missense	Endometrium
COSM26493	c.741delA	p.K247fs*32	Deletion - Frameshift	Stomach
COSM227218	c.718C>T	p.R240*	Substitution - Nonsense	Skin
COSM721730	c.457+1G>T	p.?	Unknown	Lung
COSM13342	c.3495C>T	p.C1165C	Substitution - coding silent	Central_nervous_system
COSM13340	c.1453C>T	p.Q485*	Substitution - Nonsense	Central_nervous_system
COSM3186017	c.2732G>A	p.R911Q	Substitution - Missense	Large_intestine
COSM3749667	c.116G>A	p.G39E	Substitution - Missense	Large_intestine
COSM1291512	c.4000C>T	p.R1334W	Substitution - Missense	Large_intestine
COSM3839611	c.1587T>G	p.G529G	Substitution - coding silent	Breast
COSM5004364	c.3014G>A	p.R1005Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM308681	c.3253_3254insC	p.F1088fs*5	Insertion - Frameshift	Lung
COSM3709670	c.1596T>C	p.S532S	Substitution - coding silent	Liver
COSM4754555	c.3109T>C	p.F1037L	Substitution - Missense	Stomach
COSM5621292	c.1468G>A	p.E490K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Large_intestine
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Large_intestine
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Large_intestine
COSM5967528	c.3312_3312delT	p.F1104fs*11	Deletion - Frameshift	Endometrium
COSM1021305	c.3700G>T	p.E1234*	Substitution - Nonsense	Endometrium
COSM94730	c.1490G>C	p.R497T	Substitution - Missense	Breast
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM132728	c.1079G>A	p.S360N	Substitution - Missense	Central_nervous_system
COSM3186016	c.2655A>C	p.K885N	Substitution - Missense	Large_intestine
COSM4800074	c.2588A>C	p.E863A	Substitution - Missense	Liver
COSM4991774	c.3328C>T	p.P1110S	Substitution - Missense	Skin
COSM29733	c.2309G>T	p.G770V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM13402	c.3261_3262insCC	p.F1088fs*3	Insertion - Frameshift	Stomach
COSM5907203	c.1166C>T	p.P389L	Substitution - Missense	Skin
COSM13891	c.1868C>T	p.P623L	Substitution - Missense	Skin
COSM34201	c.?	p.?	Unknown	Endometrium
COSM4169567	c.?	p.A1021G	Substitution - Missense	Central_nervous_system
COSM4703376	c.741A>T	p.K247N	Substitution - Missense	Large_intestine
COSM4655866	c.846G>C	p.V282V	Substitution - coding silent	Large_intestine
COSM4957101	c.1097A>T	p.Y366F	Substitution - Missense	Liver
COSM1641926	c.4049T>C	p.V1350A	Substitution - Missense	Stomach
COSM312954	c.2678T>A	p.L893Q	Substitution - Missense	Lung
COSM5967512	c.?	p.E980K	Substitution - Missense	Large_intestine
COSM140415	c.1024G>T	p.A342S	Substitution - Missense	Skin
COSM721729	c.889G>A	p.A297T	Substitution - Missense	Lung
COSM5609448	c.2695G>T	p.E899*	Substitution - Nonsense	Skin
COSM4172555	c.?	p.R243H	Substitution - Missense	Skin
COSM293555	c.3991C>T	p.R1331*	Substitution - Nonsense	Large_intestine
COSM3426487	c.1290G>A	p.G430G	Substitution - coding silent	Large_intestine
COSM13389	c.593A>C	p.E198A	Substitution - Missense	Endometrium
COSM4491903	c.3884C>T	p.P1295L	Substitution - Missense	Skin
COSM4416035	c.3488A>T	p.E1163V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM34201	c.?	p.?	Unknown	Endometrium
COSM3186033	c.3253_3254insCC	p.F1088fs*3	Insertion - Frameshift	Breast
COSM1021285	c.2876G>A	p.R959H	Substitution - Missense	Endometrium
COSM5967513	c.3557-?_3646+?del	p.?	Unknown	Endometrium
COSM4703377	c.1694T>C	p.L565P	Substitution - Missense	Large_intestine
COSM4804870	c.3068A>G	p.E1023G	Substitution - Missense	Liver
COSM3407878	c.965C>T	p.A322V	Substitution - Missense	Skin
COSM13397	c.4075G>T	p.E1359*	Substitution - Nonsense	Endometrium
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM5978348	c.3151G>A	p.V1051I	Substitution - Missense	Upper_aerodigestive_tract
COSM330655	c.3254delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM4313887	c.4002-8A>T	p.?	Unknown	Biliary_tract
COSM1021295	c.3141G>A	p.W1047*	Substitution - Nonsense	Endometrium
COSM245780	c.1246_1247insT	p.K417fs*1	Insertion - Frameshift	Prostate
COSM1239478	c.3205delG	p.G1070fs*9	Deletion - Frameshift	Oesophagus
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM1021307	c.3712A>G	p.T1238A	Substitution - Missense	Endometrium
COSM5609443	c.3672G>A	p.G1224G	Substitution - coding silent	Skin
COSM4985848	c.2633T>C	p.V878A	Substitution - Missense	Soft_tissue
COSM1021261	c.957G>A	p.T319T	Substitution - coding silent	Endometrium
COSM3839609	c.1387G>T	p.E463*	Substitution - Nonsense	Breast
COSM1021303	c.3586G>T	p.E1196*	Substitution - Nonsense	Endometrium
COSM276129	c.3387T>C	p.C1129C	Substitution - coding silent	Large_intestine
COSM4094436	c.1438G>C	p.V480L	Substitution - Missense	Stomach
COSM13382	c.747G>A	p.R249R	Substitution - coding silent	Urinary_tract
COSM276128	c.554A>C	p.K185T	Substitution - Missense	Large_intestine
COSM35884	c.1932G>C	p.R644S	Substitution - Missense	Breast
COSM3749667	c.116G>A	p.G39E	Substitution - Missense	Large_intestine
COSM5773502	c.899G>A	p.R300Q	Substitution - Missense	Breast
COSM98141	c.941G>T	p.S314I	Substitution - Missense	Upper_aerodigestive_tract
COSM1021309	c.3759_3761delAGA	p.E1254delE	Deletion - In frame	Endometrium
COSM5967510	c.913A>T	p.T305S	Substitution - Missense	Large_intestine
COSM327057	c.342C>A	p.P114P	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM5609446	c.2495T>G	p.L832R	Substitution - Missense	Skin
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Large_intestine
COSM3749667	c.116G>A	p.G39E	Substitution - Missense	Large_intestine
COSM96037	c.3168G>A	p.V1056V	Substitution - coding silent	Breast
COSM13393	c.2836G>T	p.E946*	Substitution - Nonsense	Endometrium
COSM1286282	c.2178C>A	p.F726L	Substitution - Missense	Autonomic_ganglia
COSM4172554	c.?	p.S1208F	Substitution - Missense	Skin
COSM1021291	c.3039G>T	p.K1013N	Substitution - Missense	Large_intestine
COSM1021289	c.2927G>A	p.R976H	Substitution - Missense	Endometrium
COSM4644445	c.2548T>C	p.Y850H	Substitution - Missense	Large_intestine
COSM1614882	c.876C>G	p.S292R	Substitution - Missense	Liver
COSM5751416	c.2377_2387del11	p.D793fs*7	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Endometrium
COSM5626771	c.341C>G	p.P114R	Substitution - Missense	Oesophagus
COSM3186004	c.2038G>A	p.A680T	Substitution - Missense	Large_intestine
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Stomach
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Endometrium
COSM5497621	c.3162C>T	p.I1054I	Substitution - coding silent	Biliary_tract
COSM4313886	c.4002-10T>A	p.?	Unknown	Kidney
COSM1130773	c.1147A>G	p.R383G	Substitution - Missense	Prostate
COSM166352	c.?	p.P1087fs*5	Unknown	Biliary_tract
COSM27531	c.?	p.L109V	Substitution - Missense	Central_nervous_system
COSM3185980	c.10C>T	p.Q4*	Substitution - Nonsense	Skin
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Stomach
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM27525	c.?	p.A1151V	Substitution - Missense	Central_nervous_system
COSM13341	c.3907G>A	p.A1303T	Substitution - Missense	Central_nervous_system
COSM5495355	c.3855C>G	p.F1285L	Substitution - Missense	Biliary_tract
COSM99084	c.1870G>A	p.G624S	Substitution - Missense	Oesophagus
COSM1021280	c.2722G>T	p.E908*	Substitution - Nonsense	Endometrium
COSM1130775	c.267C>A	p.D89E	Substitution - Missense	Prostate
COSM5004364	c.3014G>A	p.R1005Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM13386	c.1526T>C	p.V509A	Substitution - Missense	Urinary_tract
COSM5058922	c.3100C>T	p.R1034W	Substitution - Missense	Stomach
COSM4141126	c.2775A>T	p.G925G	Substitution - coding silent	Ovary
COSM1021289	c.2927G>A	p.R976H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169564	c.?	p.G430R	Substitution - Missense	Central_nervous_system
COSM1408306	c.2625G>T	p.M875I	Substitution - Missense	Large_intestine
COSM13892	c.3656C>T	p.T1219I	Substitution - Missense	Central_nervous_system
COSM308681	c.3253_3254insC	p.F1088fs*5	Insertion - Frameshift	Large_intestine
COSM5825130	c.1867C>T	p.P623S	Substitution - Missense	Pancreas
COSM13393	c.2836G>T	p.E946*	Substitution - Nonsense	Large_intestine
COSM3709670	c.1596T>C	p.S532S	Substitution - coding silent	Liver
COSM1021270	c.1585G>T	p.G529C	Substitution - Missense	Endometrium
COSM442970	c.3548T>A	p.I1183K	Substitution - Missense	Breast
COSM1021318	c.4026G>A	p.R1342R	Substitution - coding silent	Endometrium
COSM27521	c.?	p.G971E	Substitution - Missense	Central_nervous_system
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM4094432	c.856G>A	p.E286K	Substitution - Missense	Stomach
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Large_intestine
COSM5425166	c.642C>T	p.Y214Y	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1021268	c.1445G>A	p.R482Q	Substitution - Missense	Endometrium
COSM13390	c.1421T>C	p.V474A	Substitution - Missense	Endometrium
COSM1021287	c.2879A>C	p.N960T	Substitution - Missense	Endometrium
COSM13383	c.944C>T	p.S315F	Substitution - Missense	Urinary_tract
COSM3426488	c.3697A>C	p.K1233Q	Substitution - Missense	Large_intestine
COSM3581880	c.2030G>T	p.S677I	Substitution - Missense	Skin
COSM1166720	c.3415G>T	p.G1139C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3364881	c.2849G>T	p.S950I	Substitution - Missense	Kidney
COSM5726661	c.3289C>T	p.P1097S	Substitution - Missense	Skin
COSM1021261	c.957G>A	p.T319T	Substitution - coding silent	Stomach
COSM1645520	c.2867A>G	p.E956G	Substitution - Missense	Large_intestine
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Large_intestine
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM721726	c.2303C>A	p.P768H	Substitution - Missense	Lung
COSM4094433	c.1016C>A	p.A339D	Substitution - Missense	Stomach
COSM442968	c.2076A>C	p.K692N	Substitution - Missense	Breast
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Stomach
COSM48881	c.1852C>T	p.Q618*	Substitution - Nonsense	Lung
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM1021280	c.2722G>T	p.E908*	Substitution - Nonsense	Endometrium
COSM1021299	c.3300G>A	p.T1100T	Substitution - coding silent	Endometrium
COSM34201	c.?	p.?	Unknown	Endometrium
COSM288679	c.3964G>T	p.E1322*	Substitution - Nonsense	Endometrium
COSM13385	c.1190A>G	p.Y397C	Substitution - Missense	Urinary_tract
COSM94733	c.3146C>T	p.S1049F	Substitution - Missense	Breast
COSM13398	c.1168G>A	p.D390N	Substitution - Missense	Endometrium
COSM461017	c.1863G>C	p.L621L	Substitution - coding silent	Cervix
COSM3839612	c.1789G>C	p.E597Q	Substitution - Missense	Breast
COSM5803185	c.3262T>C	p.F1088L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3743813	c.3680T>C	p.I1227T	Substitution - Missense	Liver
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM4435768	c.3997T>C	p.F1333L	Substitution - Missense	Oesophagus
COSM4624813	c.1406A>T	p.Y469F	Substitution - Missense	Large_intestine
COSM4169563	c.?	p.T521I	Substitution - Missense	Central_nervous_system
COSM4539504	c.2695G>A	p.E899K	Substitution - Missense	Skin
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM27527	c.?	p.S532A	Substitution - Missense	Central_nervous_system
COSM5609444	c.1233G>A	p.R411R	Substitution - coding silent	Skin
COSM13892	c.3656C>T	p.T1219I	Substitution - Missense	Skin
COSM3186029	c.3164C>T	p.A1055V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1666635	c.?	p.W456*	Substitution - Nonsense	Ovary
COSM3839613	c.2977G>A	p.E993K	Substitution - Missense	Breast
COSM3734721	c.?	p.?	Substitution - Missense	Central_nervous_system
COSM721728	c.1011G>A	p.L337L	Substitution - coding silent	Lung
COSM5047377	c.1744T>C	p.F582L	Substitution - Missense	Oesophagus
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM4767640	c.1048G>T	p.A350S	Substitution - Missense	Biliary_tract
COSM4313887	c.4002-8A>T	p.?	Unknown	Kidney
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM4605167	c.3417C>A	p.G1139G	Substitution - coding silent	Upper_aerodigestive_tract
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Stomach
COSM4390413	c.2638G>T	p.D880Y	Substitution - Missense	Urinary_tract
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Large_intestine
COSM1021316	c.3992G>A	p.R1331Q	Substitution - Missense	Endometrium
COSM289293	c.2935C>G	p.L979V	Substitution - Missense	Large_intestine
COSM269625	c.2844A>G	p.E948E	Substitution - coding silent	Large_intestine
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Large_intestine
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Stomach
COSM13399	c.3246G>T	p.P1082P	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Endometrium
COSM3758252	c.540T>C	p.D180D	Substitution - coding silent	Large_intestine
COSM5502467	c.2765G>T	p.R922L	Substitution - Missense	Biliary_tract
COSM477462	c.1267C>A	p.L423I	Substitution - Missense	Kidney
COSM5967527	c.?	p.E708*	Substitution - Nonsense	Endometrium
COSM3734720	c.?	p.T1085fs*?	Unknown	Central_nervous_system
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Endometrium
COSM1327060	c.2346C>G	p.L782L	Substitution - coding silent	Ovary
COSM166352	c.?	p.P1087fs*5	Unknown	Large_intestine
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4094439	c.2603T>C	p.M868T	Substitution - Missense	Stomach
COSM312955	c.264T>G	p.C88W	Substitution - Missense	Lung
COSM1021272	c.1921G>T	p.E641*	Substitution - Nonsense	Endometrium
COSM4918623	c.1925A>G	p.Y642C	Substitution - Missense	Liver
COSM3799041	c.2067C>G	p.F689L	Substitution - Missense	Urinary_tract
COSM312955	c.264T>G	p.C88W	Substitution - Missense	Soft_tissue
COSM5058921	c.350G>A	p.G117E	Substitution - Missense	Stomach
COSM5031124	c.2713T>A	p.L905M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1614882	c.876C>G	p.S292R	Substitution - Missense	Liver
COSM5967521	c.?	p.R411M	Substitution - Missense	Endometrium
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM4169565	c.?	p.T757I	Substitution - Missense	Central_nervous_system
COSM4172564	c.?	p.G289D	Substitution - Missense	Skin
COSM4775481	c.627+9C>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM5573022	c.819A>T	p.G273G	Substitution - coding silent	Prostate
COSM1291512	c.4000C>T	p.R1334W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4169611	c.?	p.E1193K	Substitution - Missense	Central_nervous_system
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Endometrium
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Large_intestine
COSM4991773	c.3258C>T	p.P1086P	Substitution - coding silent	Skin
COSM403749	c.962C>G	p.S321*	Substitution - Nonsense	Lung
COSM26493	c.741delA	p.K247fs*32	Deletion - Frameshift	Stomach
COSM5354771	c.3801+2T>C	p.?	Unknown	Large_intestine
COSM1408318	c.3995T>C	p.L1332S	Substitution - Missense	Large_intestine
COSM1291512	c.4000C>T	p.R1334W	Substitution - Missense	Upper_aerodigestive_tract
COSM3581881	c.2604G>T	p.M868I	Substitution - Missense	Skin
COSM1021301	c.3303G>T	p.K1101N	Substitution - Missense	Endometrium
COSM210738	c.?	p.V509A	Substitution - Missense	Skin
COSM4789020	c.1235A>C	p.K412T	Substitution - Missense	Liver
COSM1291512	c.4000C>T	p.R1334W	Substitution - Missense	Breast
COSM1645446	c.2764C>T	p.R922*	Substitution - Nonsense	Breast
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM330655	c.3254delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM5967296	c.2223_2241del19	p.N741fs*13	Deletion - Frameshift	Salivary_gland
COSM5948359	c.110C>G	p.A37G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM26722	c.2815C>T	p.Q939*	Substitution - Nonsense	Skin
COSM27529	c.?	p.T1189T	Substitution - coding silent	Central_nervous_system
COSM4616574	c.3024C>T	p.T1008T	Substitution - coding silent	Large_intestine
COSM13391	c.1438G>T	p.V480L	Substitution - Missense	Endometrium
COSM5967516	c.?	p.K247fs*32	Frameshift	Endometrium
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM3728169	c.1325T>C	p.I442T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4568691	c.1279T>G	p.Y427D	Substitution - Missense	Skin
COSM1021297	c.3227G>A	p.R1076H	Substitution - Missense	Large_intestine
COSM13393	c.2836G>T	p.E946*	Substitution - Nonsense	Endometrium
COSM5025147	c.2629G>T	p.E877*	Substitution - Nonsense	Large_intestine
COSM1021311	c.3852G>A	p.T1284T	Substitution - coding silent	Endometrium
COSM5344223	c.3800T>C	p.M1267T	Substitution - Missense	Large_intestine
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM27528	c.?	p.K247I	Substitution - Missense	Central_nervous_system
COSM13340	c.1453C>T	p.Q485*	Substitution - Nonsense	Central_nervous_system
COSM4094435	c.1349T>C	p.V450A	Substitution - Missense	Stomach
COSM27522	c.?	p.E201Q	Substitution - Missense	Central_nervous_system
COSM5021075	c.3306T>A	p.T1102T	Substitution - coding silent	Soft_tissue
COSM5609450	c.4003G>A	p.E1335K	Substitution - Missense	Skin
COSM13341	c.3907G>A	p.A1303T	Substitution - Missense	Central_nervous_system
COSM1318901	c.2418C>T	p.S806S	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM288679	c.3964G>T	p.E1322*	Substitution - Nonsense	Endometrium
COSM308681	c.3253_3254insC	p.F1088fs*5	Insertion - Frameshift	Large_intestine
COSM1614884	c.2436A>G	p.L812L	Substitution - coding silent	Liver
COSM360871	c.697C>T	p.P233S	Substitution - Missense	Lung
COSM330655	c.3254delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM94733	c.3146C>T	p.S1049F	Substitution - Missense	Breast
COSM4778906	c.4083G>C	p.*1361Y	Nonstop extension	Liver
COSM190065	c.3284G>A	p.R1095H	Substitution - Missense	Large_intestine
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM4169569	c.?	p.A555V	Substitution - Missense	Central_nervous_system
COSM5094936	c.685G>C	p.E229Q	Substitution - Missense	Thymus
COSM190062	c.1082G>A	p.R361H	Substitution - Missense	Large_intestine
COSM1021299	c.3300G>A	p.T1100T	Substitution - coding silent	Large_intestine
COSM308681	c.3253_3254insC	p.F1088fs*5	Insertion - Frameshift	Large_intestine
COSM4703378	c.2231A>T	p.E744V	Substitution - Missense	Large_intestine
COSM1614883	c.1629A>G	p.K543K	Substitution - coding silent	Liver
COSM27523	c.?	p.G932D	Substitution - Missense	Central_nervous_system
COSM13343	c.2425delG	p.V809fs*1	Deletion - Frameshift	Central_nervous_system
COSM210738	c.?	p.V509A	Substitution - Missense	Lung
COSM3581882	c.3366G>A	p.Q1122Q	Substitution - coding silent	Skin
COSM1021297	c.3227G>A	p.R1076H	Substitution - Missense	Large_intestine
COSM1021289	c.2927G>A	p.R976H	Substitution - Missense	Stomach
COSM13398	c.1168G>A	p.D390N	Substitution - Missense	Large_intestine
COSM4172553	c.?	p.S394F	Substitution - Missense	Skin
COSM1666637	c.3172+1G>T	p.?	Unknown	Ovary
COSM1614885	c.3425C>T	p.T1142M	Substitution - Missense	Liver
COSM4789020	c.1235A>C	p.K412T	Substitution - Missense	Liver
COSM4169566	c.?	p.G864E	Substitution - Missense	Central_nervous_system
COSM13384	c.1170T>C	p.D390D	Substitution - coding silent	Urinary_tract
COSM4771553	c.1811A>G	p.E604G	Substitution - Missense	Breast
COSM3734719	c.?	p.R1035*	Substitution - Nonsense	Central_nervous_system
COSM308681	c.3253_3254insC	p.F1088fs*5	Insertion - Frameshift	Stomach
COSM29729	c.868delC	p.L290fs*1	Deletion - Frameshift	Large_intestine
COSM5751348	c.197delC	p.P66fs*15	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5551196	c.1278T>C	p.C426C	Substitution - coding silent	Prostate
COSM215880	c.3611C>A	p.A1204E	Substitution - Missense	Central_nervous_system
COSM5344222	c.1524G>C	p.V508V	Substitution - coding silent	Large_intestine
COSM13393	c.2836G>T	p.E946*	Substitution - Nonsense	Large_intestine
COSM1021291	c.3039G>T	p.K1013N	Substitution - Missense	Endometrium
COSM3749667	c.116G>A	p.G39E	Substitution - Missense	Lung
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM34201	c.?	p.?	Unknown	Endometrium
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Large_intestine
COSM3799041	c.2067C>G	p.F689L	Substitution - Missense	Oesophagus
COSM5415259	c.1292A>C	p.K431T	Substitution - Missense	Endometrium
COSM27526	c.?	p.W365*	Substitution - Nonsense	Central_nervous_system
COSM5397076	c.412_413CC>TT	p.P138L	Substitution - Missense	Skin
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Stomach
COSM27524	c.?	p.E487D	Substitution - Missense	Central_nervous_system
COSM99084	c.1870G>A	p.G624S	Substitution - Missense	Stomach
COSM1257982	c.4070T>A	p.I1357N	Substitution - Missense	Oesophagus
COSM1614885	c.3425C>T	p.T1142M	Substitution - Missense	Liver
COSM5566149	c.1403G>A	p.R468H	Substitution - Missense	Prostate
COSM5751347	c.196C>AC	p.P66fs*24	Complex - frameshift	Haematopoietic_and_lymphoid_tissue
COSM13394	c.3261_3262insC	p.F1088fs*5	Insertion - Frameshift	Large_intestine
COSM27532	c.?	p.R58S	Substitution - Missense	Central_nervous_system
COSM5521318	c.3978G>A	p.M1326I	Substitution - Missense	Biliary_tract
COSM269624	c.1370C>A	p.A457D	Substitution - Missense	Large_intestine
COSM4094431	c.806C>G	p.T269S	Substitution - Missense	Stomach
COSM5509803	c.3187C>A	p.L1063M	Substitution - Missense	Biliary_tract
COSM5415256	c.2372G>A	p.R791H	Substitution - Missense	Endometrium
COSM1021311	c.3852G>A	p.T1284T	Substitution - coding silent	Bone
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4754554	c.2552G>A	p.S851N	Substitution - Missense	Stomach
COSM5415258	c.2331G>A	p.W777*	Substitution - Nonsense	Endometrium
COSM13395	c.3261delC	p.F1088fs*2	Deletion - Frameshift	Endometrium
COSM4094440	c.3028A>G	p.T1010A	Substitution - Missense	Stomach
COSM4765209	c.3254_3255insCC	p.F1088fs*3	Insertion - Frameshift	Stomach
COSM1668899	c.3200G>T	p.S1067I	Substitution - Missense	Prostate
COSM3732372	c.675T>C	p.I225I	Substitution - coding silent	Stomach
COSM5025623	c.3418A>T	p.K1140*	Substitution - Nonsense	Breast
COSM5609447	c.2494C>T	p.L832L	Substitution - coding silent	Skin
COSM1021299	c.3300G>A	p.T1100T	Substitution - coding silent	Endometrium

> Text Mining based Variations

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PMID	Variation	Cancer	Evidence
23817394	Mutation	Colorectal Carcinoma	Forty-three out of 298 cases of CRCs (14.4%) showed abnormal staining pattern for mismatch repair proteins with a majority (65.1%) showing single hMLH1 loss
22495361	Mutation	Hereditary Nonpolyposis Colorectal Carcinoma	In 56 (7%) of 815 families, at least 1 MSH6 mutation, 23 definitively pathogenic mutations and 38 missense mutations or unclassified variants, and several polymorphisms in the MSH6 gene were detected.
21155762	Mutation	Colorectal Carcinoma; Gastric Carcinoma	MSH6*c.3984_3987dupGTCA was found in 8/2685 CRC cases, 2/337 EnCa cases, and 1/3310 controls, consistent with a high risk of CRC (odds ratio (OR) = 9.9, 95% confidence interval (CI) = 1.2–78.9, p = 0.0079) and a very high risk of EnCa (OR = 19.6, 95% CI = 1.8–217.2, p = 0.0006).
20028567	Mutation	Colorectal Carcinoma	Female MSH6 mutation carriers have a lower CRC risk and a higher risk for developing endometrial carcinoma.
28701629	Mutation	Pituitary Gland Neoplasm	We suggest that the identified gene mutations, especially those of MSH6 and MLH1 genes, may be involved in the pathogenesis and proliferation of pituitary tumor.
28696559	Mutation	Lynch Syndrome	Pathogenic vatiants in MSH6 have been reported in approximately 7-10% of families with Lynch syndrome.
28687971	Mutation	Hereditary Pancreatic Carcinoma	We identified 16 of 53 participants (30%) with a pathogenic (P) or likely pathogenic (LP) variant that may be related to their hereditary pancreatic cancer predisposition; seven had mutations in genes associated with well-known cancer syndromes (13%) [ATM (2), BRCA2 (3), MSH2 (1), MSH6 (1)].
28640387	Mutation	Colorectal Carcinoma	A total of 265 patients with CRC who were enrolled in the Hispanic Colorectal Cancer Study were included in the current study. Among individuals with dMMR tumors, 13 (61.9%) had a germline MMR mutation (MutL homolog 1 [MLH1] in 6 patients; MutS homolog 2 [MSH2] in 4 patients; MutS homolog 6 [MHS6] in 2 patients; and PMS1 homolog 2, mismatch repair system component [PMS2] in 1 patient).
28608265	Mutation	Lynch Syndrome	Of the 24 patients enrolled, four subjects (16.7%) had MSI high tumors: one subject was found to harbor a biallelic PMS2 mutation, one subject had Lynch syndrome (LS) with MSH6 mutation and two subjects had a loss of MLH1/PMS2 proteins/BRAF (wild type)/normal MLH1 sequence.
28577310	Mutation	Colorectal Carcinoma	Three patients had double somatic hits in MSH2 or MSH6, and another 2 had somatic alterations in other MMR genes and/or proofreading polymerases. In conclusion, our comprehensive strategy combining germline and somatic mutational status of CRC-associated genes by means of a subexome panel allows the elucidation of up to 86% of MSH2-deficient suspected LS tumors.
28573495	Mutation	Colorectal Carcinoma	The entire coding region of RNF43 was Sanger sequenced in 24 colorectal cancers from 23 patients who either (i) carried a germline mutation in one of the DNA mismatch repair genes (MLH1, MSH6, MSH2, PMS2), or (ii) showed immunohistochemical loss of expression of one or more of the DNA mismatch repair proteins, was BRAF wild type at V600E, were under 60years of age at diagnosis, and demonstrated no promoter region methylation for MLH1 in tumor DNA.
28528517	Mutation	Lynch Syndrome	By gene screening we investigated the role of MSH3 in 11 LS patients with truncating MSH6 germline variants and an unexplained MSH2 protein loss in their corresponding MSI-H tumours
28523262	Mutation	Lynch Syndrome	We present a case of an endometrial cancer patient with germline mutation in MutS homolog 6 (MSH6), associated with Lynch syndrome. Based on these findings, she underwent genetic counseling and testing that revealed a frameshift germline mutation at MSH6 (c. 3261dupC).
28514183	Mutation	Lynch Syndrome	We retrospectively reviewed clinical histories of patients who had multigene panel testing, including the MMR and EPCAM genes, between March 2012 and June 2015 (N = 34,981) and performed a series of statistical comparisons. Results Overall, MSH6 mutations were most frequent, followed by PMS2, MSH2, MLH1, and EPCAM mutations, respectively.
28489507	Mutation	Lynch Syndrome	Purpose Current Lynch syndrome (LS) prediction models quantify the risk to an individual of carrying a pathogenic germline mutation in three mismatch repair (MMR) genes: MLH1, MSH2, and MSH6. Results Pathogenic mutations were detected in 1,000 (5%) of 18,734 patients in the development cohort; mutations included MLH1 (n = 306), MSH2 (n = 354), MSH6 (n = 177), PMS2 (n = 141), and EPCAM (n = 22).
28466842	Mutation	Endometrial Carcinoma; Colorectal Carcinoma; Malignant Brain Neoplasm; Ovarian Carcinoma	We discover a translocation disrupting MLH1 and three mutations in MSH6 and PMS2 that increase endometrial, colorectal, brain and ovarian cancer risk.
28460341	Mutation; Loss of Expression	Brain Neoplasm	Comprehensive genomic profiling of the patient's resected brain tumor revealed mutations in six genes: PTEN, VHL, MSH6, NOTCH1, RB1, and TP53. Subsequently we performed immunohistochemical staining of the tumor tissue which demonstrated widespread loss of MSH6 with intact MSH2, MLH1, and PMS2.
28452984	Mutation	Chronic Myeloid Leukemia	In this study, we performed whole-exome sequencing to identify somatic mutations in 24 patients with newly diagnosed chronic phase CML who were registered in the JALSG CML212 study. We identified 191 somatic mutations other than the BCR-ABL1 fusion gene (median 8, range 1-17). Age, hemoglobin concentration and white blood cell counts were correlated with the number of mutations. Patients with mutations 6 showed higher rate of achieving major molecular response than those<6 (P=0.0381). Mutations in epigenetic regulator, ASXL1, TET2, TET3, KDM1A and MSH6 were found in 25% of patients.
28445943	Mutation	Colorectal Carcinoma	Using molecular inversion probes (MIPs), we designed a targeted next-generation sequencing panel to identify mutations in seven CRC predisposing genes: APC, MLH1, MSH2, MSH6, PMS2, MUTYH and NTHL1.
28423363	Mutation	Breast Carcinoma; Ovarian Carcinoma	BC and OC patients recruited by our counseling service between 2012-2015 were included in this study. DNA was extracted from peripheral blood and a panel of 94 genes involved in hereditary tumors was analyzed by NGS. Patient clinical features of BC and OC and cancer family history were collected and compared to the patient genetic profile.A total of 255 women were analyzed, 57 of whom had a pathogenic mutation in BRCA1/2 genes, and 17 carried pathogenic mutations in other genes, such as PALB2, ATM, BRIP1, RAD51D, MSH6, PPM1D, RECQL4, ERCC3, TSC2, SLX4 and other Fanconi anemia genes
27928858	Mutation	Lynch Syndrome	To our knowledge, this is the first case of endometrial carcinoma of the LUS with MSH6 germline mutation.
27486019	Mutation	Prostate Carcinoma	We report 8 additional genes with suggestive evidence of association, including the DNA repair genes PARP2 and MSH6 Finally, we observed an excess of rare truncation variants in 5 genes, including the DNA repair genes MSH6, BRCA1, and BRCA2 This adds to the growing body of evidence that DNA repair pathway defects may influence susceptibility to aggressive prostate cancer.
27443514	Mutation	Lynch Syndrome	Thirty-five patients (9.2%) had a deleterious mutation: 22 (5.8%) in Lynch syndrome genes (three MLH1, five MSH2, two EPCAM-MSH2, six MSH6, and six PMS2) and 13 (3.4%) in 10 non-Lynch syndrome genes (four CHEK2, one each in APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, NBN, PTEN, and RAD51C).
27601186	Mutation	Lynch Syndrome	A total of 201unique disease-predisposing MMR gene mutations were identified in 369Lynch syndrome families. These mutations affected MLH1 in 40%, MSH2 in 36%, MSH6 in 18% and PMS2 in 6% of the families.
27742654	Mutation	Endometrial Carcinoma	Six hundred ninety- six endometrial cancers were analyzed for MSI (pentaplex panel) and MMR protein expression (IHC). Five of seven cases with solitary loss of PMS2 or MSH6 protein expression carried somatic gene variants.
27491556	Mutation	Colorectal Carcinoma	Two novel variants described for the first time in Algerian families were identified in MLH1, c.881_884delTCAGinsCATTCCT and a large deletion in MSH6 gene from a young onset of CRC.
26657901	Mutation	Lynch Syndrome	Among first cancer detected in each patient the colorectal cancer cumulative incidences at 70years by gene were 46%, 35%, 20% and 10% for MLH1, MSH2, MSH6 and PMS2 mutation carriers, respectively.

Summary
Symbol	MSH6
Name	mutS homolog 6
Aliases	GTBP; mutS (E. coli) homolog 6; mutS homolog 6 (E. coli); GTMBP; HNPCC5; HSAP; G/T mismatch-binding protein; ......
Location	2p16.3
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
P52701	41	S	Phosphoserine	-	No	None detected
P52701	43	S	Phosphoserine	-	No	None detected
P52701	70	K	N6-acetyllysine	-	No	None detected
P52701	79	S	Phosphoserine	-	No	None detected
P52701	91	S	Phosphoserine	-	No	None detected
P52701	137	S	Phosphoserine	-	No	None detected
P52701	200	S	Phosphoserine	-	No	None detected
P52701	219	S	Phosphoserine	-	No	None detected
P52701	227	S	Phosphoserine	-	No	None detected
P52701	252	S	Phosphoserine	-	No	None detected
P52701	254	S	Phosphoserine	-	No	None detected
P52701	256	S	Phosphoserine	-	No	None detected
P52701	261	S	Phosphoserine	-	No	None detected
P52701	269	T	Phosphothreonine	-	Yes	p.T269S (cancer: STAD)
P52701	274	S	Phosphoserine	-	No	None detected
P52701	275	S	Phosphoserine	-	No	None detected
P52701	279	S	Phosphoserine	-	No	None detected
P52701	280	S	Phosphoserine	-	No	None detected
P52701	309	S	Phosphoserine	-	No	None detected
P52701	488	T	Phosphothreonine	-	No	None detected
P52701	504	K	N6-acetyllysine	-	No	None detected
P52701	830	S	Phosphoserine	-	No	None detected
P52701	935	S	Phosphoserine	-	No	None detected
P52701	1010	T	Phosphothreonine	-	Yes	p.T1010A (cancer: STAD)

Summary
Symbol	MSH6
Name	mutS homolog 6
Aliases	GTBP; mutS (E. coli) homolog 6; mutS homolog 6 (E. coli); GTMBP; HNPCC5; HSAP; G/T mismatch-binding protein; ......
Location	2p16.3
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	5.809	6.137	0.323	0.0865	NS
BRCA	Breast invasive carcinoma	112	1100	6.037	6.469	0.505	6.02e-17	NS
CESC	Cervical and endocervical cancers	3	306	6.147	6.866	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	5.057	5.786	0.686	6.45e-14	Over
ESCA	Esophageal carcinoma	11	185	5.495	6.116	0.711	0.00489	Over
GBM	Glioblastoma multiforme	5	166	4.996	5.897	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	5.409	6.099	0.73	2.07e-13	Over
KIRC	Kidney renal clear cell carcinoma	72	534	5.524	5.611	0.045	0.444	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	5.204	4.951	-0.194	0.0594	NS
LAML	Acute Myeloid Leukemia	0	173	NA	7.072	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	5.575	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	4.905	5.26	0.367	2.49e-05	NS
LUAD	Lung adenocarcinoma	59	517	5.353	6.028	0.68	1.12e-15	Over
LUSC	Lung squamous cell carcinoma	51	501	5.357	6.856	1.445	2.27e-41	Over
OV	Ovarian serous cystadenocarcinoma	0	307	NA	6.464	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	5.259	5.304	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	6.743	5.189	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	5.633	5.605	-0.023	0.709	NS
READ	Rectum adenocarcinoma	10	167	5.37	5.768	0.493	0.00827	NS
SARC	Sarcoma	2	263	5.355	6.052	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	6.356	6.146	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	5.233	5.662	0.574	1.94e-08	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	8.344	NA	NA	NA
THCA	Thyroid carcinoma	59	509	5.778	5.653	-0.163	0.000401	NS
THYM	Thymoma	2	120	6.264	6.465	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	6.401	5.822	-0.499	0.000155	NS

> Cancer Cell Line Encyclopedia (CCLE)

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Tissue	Cell Line	Expression Level (Microarray)
Autonomic ganglia	CHP126	11.4
Autonomic ganglia	CHP212	10.2
Autonomic ganglia	IMR32	11.5
Autonomic ganglia	KELLY	10.7
Autonomic ganglia	KPNRTBM1	10.6
Autonomic ganglia	KPNSI9S	9
Autonomic ganglia	KPNYN	10.7
Autonomic ganglia	MHHNB11	10.7
Autonomic ganglia	NB1	10.9
Autonomic ganglia	NH6	10.3
Autonomic ganglia	SHSY5Y	11
Autonomic ganglia	SIMA	11
Autonomic ganglia	SKNAS	9.8
Autonomic ganglia	SKNBE2	10.3
Autonomic ganglia	SKNDZ	10.6
Autonomic ganglia	SKNFI	10.4
Autonomic ganglia	SKNSH	10.2
Biliary tract	HUCCT1	9.7
Biliary tract	HUH28	8.9
Biliary tract	SNU1079	10.7
Biliary tract	SNU1196	10
Biliary tract	SNU245	10.3
Biliary tract	SNU308	9.3
Biliary tract	SNU478	10.1
Bone	143B	11
Bone	A673	11
Bone	CADOES1	10.7
Bone	CAL78	9.7
Bone	G292CLONEA141B1	9.9
Bone	HOS	10.7
Bone	HS706T	8.8
Bone	HS737T	8.6
Bone	HS819T	8.5
Bone	HS821T	9.1
Bone	HS822T	8.4
Bone	HS863T	9.5
Bone	HS870T	8.8
Bone	HS888T	9.6
Bone	MG63	10.3
Bone	MHHES1	10.1
Bone	OUMS27	8.8
Bone	RDES	11.3
Bone	SJSA1	9.8
Bone	SKES1	11.3
Bone	SKNMC	11.3
Bone	SW1353	9.4
Bone	T173	9
Bone	TC71	10.2
Bone	U2OS	11.3
Breast	AU565	10
Breast	BT20	10.3
Breast	BT474	10.2
Breast	BT483	9.9
Breast	BT549	9.9
Breast	CAL120	10
Breast	CAL148	11.4
Breast	CAL51	10.8
Breast	CAL851	9.8
Breast	CAMA1	10.1
Breast	DU4475	10.5
Breast	EFM192A	10.2
Breast	EFM19	10.4
Breast	EVSAT	10
Breast	HCC1143	10.5
Breast	HCC1187	9.9
Breast	HCC1395	10.6
Breast	HCC1419	10.2
Breast	HCC1428	11.4
Breast	HCC1500	9.3
Breast	HCC1569	9.6
Breast	HCC1599	10.7
Breast	HCC1806	10.5
Breast	HCC1937	10.1
Breast	HCC1954	9.6
Breast	HCC202	10.2
Breast	HCC2157	9.3
Breast	HCC2218	9.3
Breast	HCC38	9.9
Breast	HCC70	9.4
Breast	HDQP1	10.1
Breast	HMC18	9.6
Breast	HS274T	9
Breast	HS281T	9.5
Breast	HS343T	10
Breast	HS578T	9.7
Breast	HS606T	9.1
Breast	HS739T	9
Breast	HS742T	8.4
Breast	JIMT1	10.9
Breast	KPL1	10.3
Breast	MCF7	9.5
Breast	MDAMB134VI	10.1
Breast	MDAMB157	10.3
Breast	MDAMB175VII	8.8
Breast	MDAMB231	10.3
Breast	MDAMB361	10.4
Breast	MDAMB415	9
Breast	MDAMB436	11.1
Breast	MDAMB453	10.6
Breast	MDAMB468	10.7
Breast	SKBR3	9.5
Breast	T47D	9.7
Breast	UACC812	8.7
Breast	UACC893	10.9
Breast	YMB1	9.6
Breast	ZR751	8.7
Breast	ZR7530	9.9
Central nervous system	1321N1	10.8
Central nervous system	42MGBA	9.7
Central nervous system	8MGBA	9.6
Central nervous system	A172	10
Central nervous system	AM38	10.1
Central nervous system	BECKER	9.9
Central nervous system	CAS1	8.8
Central nervous system	CCFSTTG1	9.8
Central nervous system	D283MED	10.9
Central nervous system	D341MED	9.3
Central nervous system	DAOY	10.4
Central nervous system	DBTRG05MG	9.2
Central nervous system	DKMG	9.5
Central nervous system	GAMG	10.2
Central nervous system	GB1	11
Central nervous system	GI1	9.9
Central nervous system	GMS10	9.8
Central nervous system	GOS3	10
Central nervous system	H4	10.2
Central nervous system	HS683	9.3
Central nervous system	KALS1	9.3
Central nervous system	KG1C	9.3
Central nervous system	KNS42	10.7
Central nervous system	KNS60	9.6
Central nervous system	KNS81	9.5
Central nervous system	KS1	10.6
Central nervous system	LN18	10.6
Central nervous system	LN229	9.8
Central nervous system	M059K	9.3
Central nervous system	MOGGCCM	9.6
Central nervous system	MOGGUVW	10.2
Central nervous system	NMCG1	9.7
Central nervous system	ONS76	9
Central nervous system	SF126	9.7
Central nervous system	SF295	10
Central nervous system	SNB19	10.5
Central nervous system	SNU1105	9.4
Central nervous system	SNU201	9.5
Central nervous system	SNU466	9.3
Central nervous system	SNU489	8.9
Central nervous system	SNU626	9.8
Central nervous system	SNU738	10.2
Central nervous system	SW1088	9.9
Central nervous system	SW1783	9.5
Central nervous system	T98G	10.1
Central nervous system	TM31	9.9
Central nervous system	U118MG	10
Central nervous system	U138MG	9.9
Central nervous system	U251MG	9.8
Central nervous system	U87MG	10.2
Central nervous system	YH13	9.7
Central nervous system	YKG1	9.8
Endometrium	AN3CA	9.4
Endometrium	COLO684	11.2
Endometrium	EFE184	9.1
Endometrium	EN	8.9
Endometrium	ESS1	10.3
Endometrium	HEC108	9.2
Endometrium	HEC151	8.6
Endometrium	HEC1A	9.3
Endometrium	HEC1B	8
Endometrium	HEC251	10.9
Endometrium	HEC265	9.3
Endometrium	HEC50B	9.8
Endometrium	HEC59	9.4
Endometrium	HEC6	6.7
Endometrium	ISHIKAWAHERAKLIO02ER	8.7
Endometrium	JHUEM1	9.5
Endometrium	JHUEM2	10.5
Endometrium	JHUEM3	9.9
Endometrium	KLE	9.3
Endometrium	MFE280	10.5
Endometrium	MFE296	10.2
Endometrium	MFE319	9.3
Endometrium	RL952	8.9
Endometrium	SNGM	8.3
Endometrium	SNU1077	10
Endometrium	SNU685	10.4
Endometrium	TEN	10.1
Haematopoietic and lymphoid	697	12.9
Haematopoietic and lymphoid	A3KAW	10
Haematopoietic and lymphoid	A4FUK	10.2
Haematopoietic and lymphoid	ALLSIL	11.1
Haematopoietic and lymphoid	AML193	9.6
Haematopoietic and lymphoid	AMO1	10.8
Haematopoietic and lymphoid	BCP1	10.7
Haematopoietic and lymphoid	BDCM	10.2
Haematopoietic and lymphoid	BL41	11.5
Haematopoietic and lymphoid	BL70	11.5
Haematopoietic and lymphoid	BV173	11.2
Haematopoietic and lymphoid	CA46	11
Haematopoietic and lymphoid	CI1	10.9
Haematopoietic and lymphoid	CMK115	10.2
Haematopoietic and lymphoid	CMK86	10.7
Haematopoietic and lymphoid	CMK	10.9
Haematopoietic and lymphoid	CMLT1	10.3
Haematopoietic and lymphoid	COLO775	10.7
Haematopoietic and lymphoid	DAUDI	10.9
Haematopoietic and lymphoid	DB	11.4
Haematopoietic and lymphoid	DEL	10.2
Haematopoietic and lymphoid	DND41	10.6
Haematopoietic and lymphoid	DOHH2	11.4
Haematopoietic and lymphoid	EB1	10
Haematopoietic and lymphoid	EB2	10
Haematopoietic and lymphoid	EHEB	9.3
Haematopoietic and lymphoid	EJM	10
Haematopoietic and lymphoid	EM2	10.6
Haematopoietic and lymphoid	EOL1	10.5
Haematopoietic and lymphoid	F36P	10.8
Haematopoietic and lymphoid	GA10	11.3
Haematopoietic and lymphoid	GDM1	10.7
Haematopoietic and lymphoid	GRANTA519	10.2
Haematopoietic and lymphoid	HDLM2	10.8
Haematopoietic and lymphoid	HDMYZ	9.9
Haematopoietic and lymphoid	HEL9217	10.5
Haematopoietic and lymphoid	HEL	10.3
Haematopoietic and lymphoid	HH	10.9
Haematopoietic and lymphoid	HL60	9.5
Haematopoietic and lymphoid	HPBALL	3.8
Haematopoietic and lymphoid	HS604T	8.2
Haematopoietic and lymphoid	HS611T	10.2
Haematopoietic and lymphoid	HS616T	8.4
Haematopoietic and lymphoid	HS751T	8.8
Haematopoietic and lymphoid	HT	11.1
Haematopoietic and lymphoid	HTK	11.1
Haematopoietic and lymphoid	HUNS1	10.2
Haematopoietic and lymphoid	HUT102	9.3
Haematopoietic and lymphoid	HUT78	10.4
Haematopoietic and lymphoid	JEKO1	11.5
Haematopoietic and lymphoid	JK1	10.1
Haematopoietic and lymphoid	JM1	11.8
Haematopoietic and lymphoid	JURKAT	6.6
Haematopoietic and lymphoid	JURLMK1	10.9
Haematopoietic and lymphoid	JVM2	8.9
Haematopoietic and lymphoid	JVM3	9.7
Haematopoietic and lymphoid	K562	10.4
Haematopoietic and lymphoid	KARPAS299	9.3
Haematopoietic and lymphoid	KARPAS422	10.5
Haematopoietic and lymphoid	KARPAS620	10.5
Haematopoietic and lymphoid	KASUMI1	10.3
Haematopoietic and lymphoid	KASUMI2	11.9
Haematopoietic and lymphoid	KASUMI6	10.2
Haematopoietic and lymphoid	KCL22	9.4
Haematopoietic and lymphoid	KE37	10.8
Haematopoietic and lymphoid	KE97	10.2
Haematopoietic and lymphoid	KG1	10.1
Haematopoietic and lymphoid	KHM1B	9.9
Haematopoietic and lymphoid	KIJK	10.2
Haematopoietic and lymphoid	KMH2	11.7
Haematopoietic and lymphoid	KMM1	10.8
Haematopoietic and lymphoid	KMS11	10.4
Haematopoietic and lymphoid	KMS12BM	10.5
Haematopoietic and lymphoid	KMS18	10.4
Haematopoietic and lymphoid	KMS20	11.2
Haematopoietic and lymphoid	KMS21BM	8.8
Haematopoietic and lymphoid	KMS26	9.5
Haematopoietic and lymphoid	KMS27	10.1
Haematopoietic and lymphoid	KMS28BM	10.2
Haematopoietic and lymphoid	KMS34	9.7
Haematopoietic and lymphoid	KO52	9.7
Haematopoietic and lymphoid	KOPN8	11.7
Haematopoietic and lymphoid	KU812	10.1
Haematopoietic and lymphoid	KYO1	11.2
Haematopoietic and lymphoid	L1236	10.8
Haematopoietic and lymphoid	L363	9.3
Haematopoietic and lymphoid	L428	11.7
Haematopoietic and lymphoid	L540	9.8
Haematopoietic and lymphoid	LAMA84	10.2
Haematopoietic and lymphoid	LOUCY	10.4
Haematopoietic and lymphoid	LP1	9.4
Haematopoietic and lymphoid	M07E	10.6
Haematopoietic and lymphoid	MC116	11.4
Haematopoietic and lymphoid	ME1	10.6
Haematopoietic and lymphoid	MEC1	10.5
Haematopoietic and lymphoid	MEC2	10.3
Haematopoietic and lymphoid	MEG01	9.6
Haematopoietic and lymphoid	MHHCALL2	11.4
Haematopoietic and lymphoid	MHHCALL3	12
Haematopoietic and lymphoid	MHHCALL4	11.3
Haematopoietic and lymphoid	MINO	11.2
Haematopoietic and lymphoid	MJ	10.9
Haematopoietic and lymphoid	MM1S	10.8
Haematopoietic and lymphoid	MOLM13	9.8
Haematopoietic and lymphoid	MOLM16	10.2
Haematopoietic and lymphoid	MOLM6	10.3
Haematopoietic and lymphoid	MOLP2	10.2
Haematopoietic and lymphoid	MOLP8	9.6
Haematopoietic and lymphoid	MOLT13	10.2
Haematopoietic and lymphoid	MOLT16	9.9
Haematopoietic and lymphoid	MOLT4	10.3
Haematopoietic and lymphoid	MONOMAC1	10.1
Haematopoietic and lymphoid	MONOMAC6	10.3
Haematopoietic and lymphoid	MOTN1	9.7
Haematopoietic and lymphoid	MUTZ5	12.9
Haematopoietic and lymphoid	MV411	9.7
Haematopoietic and lymphoid	NALM19	12.1
Haematopoietic and lymphoid	NALM1	12
Haematopoietic and lymphoid	NALM6	10.7
Haematopoietic and lymphoid	NAMALWA	11.2
Haematopoietic and lymphoid	NB4	11.1
Haematopoietic and lymphoid	NCIH929	9.1
Haematopoietic and lymphoid	NCO2	10.2
Haematopoietic and lymphoid	NOMO1	10.3
Haematopoietic and lymphoid	NUDHL1	9.9
Haematopoietic and lymphoid	NUDUL1	11.4
Haematopoietic and lymphoid	OCIAML2	9.1
Haematopoietic and lymphoid	OCIAML3	9.5
Haematopoietic and lymphoid	OCIAML5	9.9
Haematopoietic and lymphoid	OCILY10	10.8
Haematopoietic and lymphoid	OCILY19	11.5
Haematopoietic and lymphoid	OCILY3	9.8
Haematopoietic and lymphoid	OCIM1	10
Haematopoietic and lymphoid	OPM2	9.8
Haematopoietic and lymphoid	P12ICHIKAWA	11.4
Haematopoietic and lymphoid	P31FUJ	9.9
Haematopoietic and lymphoid	P3HR1	10.8
Haematopoietic and lymphoid	PCM6	8.9
Haematopoietic and lymphoid	PEER	10.8
Haematopoietic and lymphoid	PF382	10.9
Haematopoietic and lymphoid	PFEIFFER	11.2
Haematopoietic and lymphoid	PL21	10.4
Haematopoietic and lymphoid	RAJI	10.8
Haematopoietic and lymphoid	RCHACV	9.7
Haematopoietic and lymphoid	REC1	10.1
Haematopoietic and lymphoid	REH	11.3
Haematopoietic and lymphoid	RI1	10.7
Haematopoietic and lymphoid	RL	11.1
Haematopoietic and lymphoid	RPMI8226	10.3
Haematopoietic and lymphoid	RPMI8402	11.1
Haematopoietic and lymphoid	RS411	11.3
Haematopoietic and lymphoid	SEM	11.3
Haematopoietic and lymphoid	SET2	9.9
Haematopoietic and lymphoid	SIGM5	10.9
Haematopoietic and lymphoid	SKM1	9.8
Haematopoietic and lymphoid	SKMM2	10.3
Haematopoietic and lymphoid	SR786	9.6
Haematopoietic and lymphoid	ST486	10.9
Haematopoietic and lymphoid	SUDHL10	11.9
Haematopoietic and lymphoid	SUDHL1	10.3
Haematopoietic and lymphoid	SUDHL4	11.4
Haematopoietic and lymphoid	SUDHL5	12.2
Haematopoietic and lymphoid	SUDHL6	11.7
Haematopoietic and lymphoid	SUDHL8	10.9
Haematopoietic and lymphoid	SUPB15	11.1
Haematopoietic and lymphoid	SUPHD1	9.1
Haematopoietic and lymphoid	SUPM2	8.9
Haematopoietic and lymphoid	SUPT11	11.5
Haematopoietic and lymphoid	SUPT1	10.7
Haematopoietic and lymphoid	TALL1	10.8
Haematopoietic and lymphoid	TF1	10.3
Haematopoietic and lymphoid	THP1	10
Haematopoietic and lymphoid	TO175T	8.9
Haematopoietic and lymphoid	TOLEDO	10.7
Haematopoietic and lymphoid	U266B1	10.2
Haematopoietic and lymphoid	U937	10.2
Haematopoietic and lymphoid	UT7	9.8
Haematopoietic and lymphoid	WSUDLCL2	12
Kidney	769P	10.3
Kidney	786O	10.3
Kidney	A498	10.1
Kidney	A704	8.2
Kidney	ACHN	10.2
Kidney	BFTC909	9.4
Kidney	CAKI1	9.5
Kidney	CAKI2	10
Kidney	CAL54	10
Kidney	KMRC1	10
Kidney	KMRC20	10.2
Kidney	KMRC2	10.4
Kidney	KMRC3	8.6
Kidney	OSRC2	9.8
Kidney	RCC10RGB	9.7
Kidney	SNU1272	10
Kidney	SNU349	9.7
Kidney	TUHR10TKB	9.8
Kidney	TUHR14TKB	9.5
Kidney	TUHR4TKB	9.7
Kidney	VMRCRCW	8.5
Kidney	VMRCRCZ	10
Large intestine	C2BBE1	10.2
Large intestine	CCK81	10.3
Large intestine	CL11	9.6
Large intestine	CL14	10
Large intestine	CL34	10.2
Large intestine	CL40	8.9
Large intestine	COLO205	9.5
Large intestine	COLO320	11.6
Large intestine	COLO678	10
Large intestine	CW2	9.6
Large intestine	DLD1	7.2
Large intestine	GP2D	9.1
Large intestine	HCC56	8.9
Large intestine	HCT116	9.8
Large intestine	HCT15	6.7
Large intestine	HS675T	8.7
Large intestine	HS698T	9.4
Large intestine	HT115	9.9
Large intestine	HT29	9.7
Large intestine	HT55	9.5
Large intestine	KM12	7.9
Large intestine	LOVO	10.1
Large intestine	LS1034	9.5
Large intestine	LS123	9.6
Large intestine	LS180	8.9
Large intestine	LS411N	10.3
Large intestine	LS513	8.8
Large intestine	MDST8	9.3
Large intestine	NCIH508	7.6
Large intestine	NCIH716	10
Large intestine	NCIH747	9.8
Large intestine	OUMS23	9.7
Large intestine	RCM1	9.1
Large intestine	RKO	9
Large intestine	SKCO1	9.4
Large intestine	SNU1040	9.7
Large intestine	SNU1197	8.8
Large intestine	SNU175	5.6
Large intestine	SNU283	10
Large intestine	SNU407	10.1
Large intestine	SNU503	10.9
Large intestine	SNU61	10
Large intestine	SNU81	8.1
Large intestine	SNUC1	9.1
Large intestine	SNUC2A	6.3
Large intestine	SNUC4	8.9
Large intestine	SNUC5	9.7
Large intestine	SW1116	9
Large intestine	SW1417	10.2
Large intestine	SW1463	9.5
Large intestine	SW403	9.4
Large intestine	SW480	10
Large intestine	SW48	9.5
Large intestine	SW620	10.2
Large intestine	SW837	9.5
Large intestine	SW948	10.1
Large intestine	T84	9.7
Liver	ALEXANDERCELLS	11.2
Liver	C3A	9.6
Liver	HEP3B217	10.3
Liver	HEPG2	10.3
Liver	HLE	10.4
Liver	HLF	10.4
Liver	HUH1	9.7
Liver	HUH6	10.2
Liver	HUH7	9.7
Liver	JHH1	10.4
Liver	JHH2	10.2
Liver	JHH4	10
Liver	JHH5	9.6
Liver	JHH6	9.7
Liver	JHH7	10.9
Liver	LI7	10
Liver	PLCPRF5	10.7
Liver	SKHEP1	9.9
Liver	SNU182	10.6
Liver	SNU387	10.2
Liver	SNU398	11.3
Liver	SNU423	10.4
Liver	SNU449	9.5
Liver	SNU475	10.1
Liver	SNU761	9.9
Liver	SNU878	9.7
Liver	SNU886	9.8
Lung	A549	10.5
Lung	ABC1	11.2
Lung	BEN	9.4
Lung	CAL12T	9.7
Lung	CALU1	10.3
Lung	CALU3	9.8
Lung	CALU6	10.1
Lung	CHAGOK1	10.2
Lung	COLO668	10.6
Lung	COLO699	10.3
Lung	CORL105	10.4
Lung	CORL23	9.6
Lung	CORL24	11.1
Lung	CORL279	10.9
Lung	CORL311	10
Lung	CORL47	10.8
Lung	CORL51	10.5
Lung	CORL88	10.8
Lung	CORL95	10.3
Lung	CPCN	10.6
Lung	DMS114	10.6
Lung	DMS153	10.8
Lung	DMS273	10.5
Lung	DMS454	9.1
Lung	DMS53	10
Lung	DMS79	11.2
Lung	DV90	9.1
Lung	EBC1	9.9
Lung	EPLC272H	9.3
Lung	HARA	10.6
Lung	HCC1171	10.1
Lung	HCC1195	10.4
Lung	HCC15	10
Lung	HCC2279	10
Lung	HCC2935	10.8
Lung	HCC33	11.4
Lung	HCC366	9.8
Lung	HCC4006	10.3
Lung	HCC44	9.4
Lung	HCC78	9.9
Lung	HCC827	10.1
Lung	HCC95	10.4
Lung	HLC1	9.9
Lung	HLFA	8.7
Lung	HS229T	9.7
Lung	HS618T	9.1
Lung	IALM	10.4
Lung	KNS62	8.7
Lung	LC1F	10.7
Lung	LC1SQSF	10
Lung	LCLC103H	10
Lung	LCLC97TM1	10.6
Lung	LK2	11.2
Lung	LOUNH91	9.7
Lung	LU65	10
Lung	LU99	9.8
Lung	LUDLU1	9.8
Lung	LXF289	10.2
Lung	MORCPR	10.1
Lung	NCIH1048	10
Lung	NCIH1092	10.2
Lung	NCIH1105	11
Lung	NCIH1155	7
Lung	NCIH1184	10.4
Lung	NCIH1299	10.7
Lung	NCIH1339	10.1
Lung	NCIH1341	10.6
Lung	NCIH1355	10.6
Lung	NCIH1373	10.1
Lung	NCIH1385	10.5
Lung	NCIH1395	9.8
Lung	NCIH1435	9.7
Lung	NCIH1436	10.4
Lung	NCIH1437	9.6
Lung	NCIH146	10.7
Lung	NCIH1563	9.1
Lung	NCIH1568	10.3
Lung	NCIH1573	9.2
Lung	NCIH1581	10.9
Lung	NCIH1618	10.6
Lung	NCIH1623	9.8
Lung	NCIH1648	9.8
Lung	NCIH1650	9.6
Lung	NCIH1651	10.2
Lung	NCIH1666	9.9
Lung	NCIH1693	8.8
Lung	NCIH1694	10.4
Lung	NCIH1703	10.6
Lung	NCIH1734	10.1
Lung	NCIH1755	9.7
Lung	NCIH1781	10.4
Lung	NCIH1792	9.6
Lung	NCIH1793	9.9
Lung	NCIH1836	10.8
Lung	NCIH1838	10
Lung	NCIH1869	9.9
Lung	NCIH1876	10.7
Lung	NCIH1915	9.6
Lung	NCIH1930	10.6
Lung	NCIH1944	9.7
Lung	NCIH1963	11
Lung	NCIH196	9.6
Lung	NCIH1975	10.2
Lung	NCIH2009	10.5
Lung	NCIH2023	9.7
Lung	NCIH2029	10.5
Lung	NCIH2030	10.5
Lung	NCIH2066	10.1
Lung	NCIH2081	10.8
Lung	NCIH2085	9.7
Lung	NCIH2087	9.9
Lung	NCIH209	10.9
Lung	NCIH2106	10.4
Lung	NCIH2110	10.1
Lung	NCIH211	10.8
Lung	NCIH2122	9.6
Lung	NCIH2126	9.4
Lung	NCIH2141	10.8
Lung	NCIH2170	10
Lung	NCIH2171	11
Lung	NCIH2172	9.5
Lung	NCIH2196	10.7
Lung	NCIH2227	10.7
Lung	NCIH2228	10.5
Lung	NCIH226	9.9
Lung	NCIH2286	10.1
Lung	NCIH2291	9.6
Lung	NCIH2342	9.7
Lung	NCIH2347	9.7
Lung	NCIH23	10.8
Lung	NCIH2405	10
Lung	NCIH2444	9.4
Lung	NCIH292	9.6
Lung	NCIH322	9.5
Lung	NCIH3255	10
Lung	NCIH358	10.3
Lung	NCIH441	10.7
Lung	NCIH446	10.7
Lung	NCIH460	10.3
Lung	NCIH510	11
Lung	NCIH520	10.7
Lung	NCIH522	11.2
Lung	NCIH524	10.5
Lung	NCIH526	10.9
Lung	NCIH596	9.9
Lung	NCIH647	10.5
Lung	NCIH650	9.8
Lung	NCIH661	10.2
Lung	NCIH69	10
Lung	NCIH727	10.3
Lung	NCIH810	10.2
Lung	NCIH82	11.2
Lung	NCIH838	9.8
Lung	NCIH841	11.6
Lung	NCIH854	8.5
Lung	NCIH889	10.9
Lung	PC14	10.1
Lung	RERFLCAD1	9.9
Lung	RERFLCAD2	9.2
Lung	RERFLCAI	10
Lung	RERFLCKJ	9.9
Lung	RERFLCMS	9.9
Lung	RERFLCSQ1	9.9
Lung	SBC5	10.4
Lung	SCLC21H	11.8
Lung	SHP77	10.6
Lung	SKLU1	9.9
Lung	SKMES1	9.9
Lung	SQ1	10.5
Lung	SW1271	10.7
Lung	SW1573	10.2
Lung	SW900	9.6
Lung	VMRCLCD	10.8
Lung	VMRCLCP	10.2
Oesophagus	COLO680N	9.7
Oesophagus	ECGI10	9.5
Oesophagus	KYSE140	10
Oesophagus	KYSE150	10.1
Oesophagus	KYSE180	10.3
Oesophagus	KYSE270	10.2
Oesophagus	KYSE30	8.8
Oesophagus	KYSE410	10
Oesophagus	KYSE450	10
Oesophagus	KYSE510	10.9
Oesophagus	KYSE520	9.9
Oesophagus	KYSE70	9.7
Oesophagus	OE19	9.9
Oesophagus	OE33	9.2
Oesophagus	TE10	10
Oesophagus	TE11	9.8
Oesophagus	TE14	9.7
Oesophagus	TE15	9.9
Oesophagus	TE1	11.2
Oesophagus	TE4	9.8
Oesophagus	TE5	9.5
Oesophagus	TE6	10.8
Oesophagus	TE8	10
Oesophagus	TE9	10.1
Oesophagus	TT	9.4
Ovary	59M	9.5
Ovary	A2780	11.1
Ovary	CAOV3	10.5
Ovary	CAOV4	9.4
Ovary	COLO704	10.9
Ovary	COV318	9.3
Ovary	COV362	10.3
Ovary	COV434	9.9
Ovary	COV504	9.7
Ovary	COV644	9.4
Ovary	EFO21	10.4
Ovary	EFO27	8.6
Ovary	ES2	10.2
Ovary	FUOV1	10.1
Ovary	HEYA8	9.9
Ovary	HS571T	8.7
Ovary	IGROV1	6.9
Ovary	JHOC5	9.8
Ovary	JHOM1	9.1
Ovary	JHOM2B	10.3
Ovary	JHOS2	9.6
Ovary	JHOS4	9.7
Ovary	KURAMOCHI	10.1
Ovary	MCAS	9.6
Ovary	NIHOVCAR3	9.9
Ovary	OAW28	10.7
Ovary	OAW42	10.2
Ovary	OC314	9.7
Ovary	OC316	10
Ovary	ONCODG1	10.5
Ovary	OV56	9.3
Ovary	OV7	10
Ovary	OV90	9.8
Ovary	OVCAR4	9.7
Ovary	OVCAR8	9.5
Ovary	OVISE	9.4
Ovary	OVK18	10.4
Ovary	OVKATE	9.5
Ovary	OVMANA	8.4
Ovary	OVSAHO	10.6
Ovary	OVTOKO	9.9
Ovary	RMGI	8.1
Ovary	RMUGS	10.2
Ovary	SKOV3	9.8
Ovary	SNU119	10.9
Ovary	SNU840	10.3
Ovary	SNU8	9.8
Ovary	TOV112D	11.1
Ovary	TOV21G	10
Ovary	TYKNU	9.9
Pancreas	ASPC1	8.5
Pancreas	BXPC3	9.5
Pancreas	CAPAN1	9.3
Pancreas	CAPAN2	9.7
Pancreas	CFPAC1	9.1
Pancreas	DANG	10
Pancreas	HPAC	9.1
Pancreas	HPAFII	8.9
Pancreas	HS766T	9.4
Pancreas	HUPT3	9.9
Pancreas	HUPT4	9.3
Pancreas	KCIMOH1	9.8
Pancreas	KLM1	10.5
Pancreas	KP2	10.3
Pancreas	KP3	9.3
Pancreas	KP4	10.4
Pancreas	L33	10.1
Pancreas	MIAPACA2	10.3
Pancreas	PANC0203	9.5
Pancreas	PANC0213	9.2
Pancreas	PANC0327	9.5
Pancreas	PANC0403	9.5
Pancreas	PANC0504	9.6
Pancreas	PANC0813	9.2
Pancreas	PANC1005	10.4
Pancreas	PANC1	9.8
Pancreas	PATU8902	10.4
Pancreas	PATU8988S	9.4
Pancreas	PATU8988T	10.2
Pancreas	PK1	10.2
Pancreas	PK45H	10.1
Pancreas	PK59	9.2
Pancreas	PL45	10.1
Pancreas	PSN1	10.4
Pancreas	QGP1	9.8
Pancreas	SNU213	9.3
Pancreas	SNU324	9
Pancreas	SNU410	10
Pancreas	SU8686	8.9
Pancreas	SUIT2	10.1
Pancreas	SW1990	9.4
Pancreas	T3M4	9.3
Pancreas	TCCPAN2	9.2
Pancreas	YAPC	10.1
Pleura	ACCMESO1	9.4
Pleura	DM3	8.8
Pleura	ISTMES1	9.9
Pleura	ISTMES2	10
Pleura	JL1	10.3
Pleura	MPP89	8.9
Pleura	MSTO211H	10.2
Pleura	NCIH2052	10.5
Pleura	NCIH2452	9.9
Pleura	NCIH28	10.4
Prostate	22RV1	9.6
Prostate	DU145	10.1
Prostate	LNCAPCLONEFGC	8.9
Prostate	MDAPCA2B	9.8
Prostate	NCIH660	10.1
Prostate	PC3	9.1
Prostate	VCAP	8.3
Salivary gland	A253	9.8
Salivary gland	YD15	10.8
Skin	A101D	9.7
Skin	A2058	10.3
Skin	A375	10.5
Skin	C32	10
Skin	CHL1	10.5
Skin	CJM	8.8
Skin	COLO679	9.9
Skin	COLO741	10.1
Skin	COLO783	9.1
Skin	COLO792	8.8
Skin	COLO800	9.7
Skin	COLO818	9.7
Skin	COLO829	9.2
Skin	COLO849	9.7
Skin	G361	10.4
Skin	GRM	10.4
Skin	HMCB	10.9
Skin	HS294T	9.5
Skin	HS600T	8.8
Skin	HS688AT	8.9
Skin	HS695T	10.3
Skin	HS839T	9.1
Skin	HS852T	9.9
Skin	HS895T	8.2
Skin	HS934T	9.6
Skin	HS936T	9.8
Skin	HS939T	9.3
Skin	HS940T	8.7
Skin	HS944T	10.4
Skin	HT144	9.6
Skin	IGR1	10
Skin	IGR37	10.5
Skin	IGR39	10.4
Skin	IPC298	9.9
Skin	K029AX	9.6
Skin	LOXIMVI	10.1
Skin	MALME3M	9.9
Skin	MDAMB435S	9.5
Skin	MELHO	10
Skin	MELJUSO	9.8
Skin	MEWO	9.8
Skin	RPMI7951	9.8
Skin	RVH421	9.7
Skin	SH4	10
Skin	SKMEL1	9.7
Skin	SKMEL24	9.5
Skin	SKMEL28	10.1
Skin	SKMEL2	10.5
Skin	SKMEL30	10
Skin	SKMEL31	8.6
Skin	SKMEL3	9.5
Skin	SKMEL5	9.8
Skin	UACC257	9.8
Skin	UACC62	9.8
Skin	WM115	9
Skin	WM1799	9
Skin	WM2664	9.8
Skin	WM793	9.9
Skin	WM88	9.3
Skin	WM983B	9.8
Small intestine	HUTU80	9.9
Soft tissue	A204	10.6
Soft tissue	G401	10.9
Soft tissue	G402	10.4
Soft tissue	GCT	10.1
Soft tissue	HS729	9
Soft tissue	HT1080	10.1
Soft tissue	KYM1	10.5
Soft tissue	MESSA	10.5
Soft tissue	RD	11
Soft tissue	RH30	10.8
Soft tissue	RH41	10.6
Soft tissue	RKN	9.1
Soft tissue	S117	10.4
Soft tissue	SJRH30	11
Soft tissue	SKLMS1	9.3
Soft tissue	SKUT1	10.2
Soft tissue	TE125T	8.7
Soft tissue	TE159T	8.9
Soft tissue	TE441T	10.7
Soft tissue	TE617T	9.8
Stomach	2313287	8.4
Stomach	AGS	10.1
Stomach	AZ521	10.4
Stomach	ECC10	10.9
Stomach	ECC12	10.2
Stomach	FU97	10
Stomach	GCIY	10
Stomach	GSS	10.4
Stomach	GSU	8.8
Stomach	HGC27	11
Stomach	HS746T	9.7
Stomach	HUG1N	9.9
Stomach	IM95	9.6
Stomach	KATOIII	10
Stomach	KE39	9.8
Stomach	LMSU	10.2
Stomach	MKN1	9.9
Stomach	MKN45	9.7
Stomach	MKN74	9.4
Stomach	MKN7	10.5
Stomach	NCCSTCK140	8.7
Stomach	NCIN87	10.1
Stomach	NUGC2	9.7
Stomach	NUGC3	10.3
Stomach	NUGC4	9.3
Stomach	OCUM1	8.9
Stomach	RERFGC1B	10.5
Stomach	SH10TC	9.7
Stomach	SNU16	9.7
Stomach	SNU1	10.3
Stomach	SNU216	8.9
Stomach	SNU520	8.6
Stomach	SNU5	9.7
Stomach	SNU601	10
Stomach	SNU620	9.5
Stomach	SNU668	9.9
Stomach	SNU719	10
Stomach	TGBC11TKB	9.2
Thyroid	8305C	10.2
Thyroid	8505C	9.9
Thyroid	BCPAP	9.8
Thyroid	BHT101	9.6
Thyroid	CAL62	10.9
Thyroid	CGTHW1	10.1
Thyroid	FTC133	5.1
Thyroid	FTC238	5.8
Thyroid	ML1	10
Thyroid	SW579	9.8
Thyroid	TT2609C02	10.3
Thyroid	TT	10
Upper aerodigestive tract	BHY	9.7
Upper aerodigestive tract	BICR16	8.8
Upper aerodigestive tract	BICR18	11
Upper aerodigestive tract	BICR22	7.9
Upper aerodigestive tract	BICR31	8.6
Upper aerodigestive tract	BICR56	6.8
Upper aerodigestive tract	BICR6	9.1
Upper aerodigestive tract	CAL27	9.6
Upper aerodigestive tract	CAL33	10
Upper aerodigestive tract	DETROIT562	11.1
Upper aerodigestive tract	FADU	9.6
Upper aerodigestive tract	HS840T	9.1
Upper aerodigestive tract	HSC2	9.1
Upper aerodigestive tract	HSC3	10
Upper aerodigestive tract	HSC4	9.7
Upper aerodigestive tract	PECAPJ15	9.6
Upper aerodigestive tract	PECAPJ34CLONEC12	9.3
Upper aerodigestive tract	PECAPJ41CLONED2	9.1
Upper aerodigestive tract	PECAPJ49	8.9
Upper aerodigestive tract	SCC15	9.3
Upper aerodigestive tract	SCC25	9.4
Upper aerodigestive tract	SCC4	8.7
Upper aerodigestive tract	SCC9	9
Upper aerodigestive tract	SNU1076	8.6
Upper aerodigestive tract	SNU1214	9.9
Upper aerodigestive tract	SNU46	10.6
Upper aerodigestive tract	SNU899	9.8
Upper aerodigestive tract	YD10B	9.7
Upper aerodigestive tract	YD38	9.8
Upper aerodigestive tract	YD8	10
Urinary tract	5637	9.4
Urinary tract	639V	7.5
Urinary tract	647V	11.2
Urinary tract	BC3C	10.4
Urinary tract	BFTC905	10.5
Urinary tract	CAL29	10
Urinary tract	HS172T	8.7
Urinary tract	HT1197	9
Urinary tract	HT1376	10.3
Urinary tract	J82	9.3
Urinary tract	JMSU1	10.3
Urinary tract	KMBC2	9.1
Urinary tract	KU1919	10.1
Urinary tract	RT11284	9.9
Urinary tract	RT112	10
Urinary tract	RT4	10.1
Urinary tract	SCABER	9.1
Urinary tract	SW1710	10.2
Urinary tract	SW780	9.3
Urinary tract	T24	9.9
Urinary tract	TCCSUP	9.3
Urinary tract	UMUC1	9.1
Urinary tract	UMUC3	10
Urinary tract	VMCUB1	10.2

> The Human Protein Atlas (HPA)

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Tissue	Expression Level (TPM)
Adipose tissue	14.3
Adrenal gland	31.1
Appendix	28.6
Bone marrow	14.7
Breast	23.3
Cerebral cortex	20.6
Cervix, uterine	28.5
Colon	14.3
Duodenum	9.4
Endometrium	52.4
Epididymis	14.7
Esophagus	15.2
Fallopian tube	32.8
Gallbladder	19.3
Heart muscle	7.1
Kidney	14.8
Liver	10.6
Lung	20.7
Lymph node	41.5
Ovary	74.4
Pancreas	7.3
Parathyroid gland	36.4
Placenta	32.1
Prostate	26.1
Rectum	16.8
Salivary gland	5.5
Seminal vesicle	25.2
Skeletal muscle	4.4
Skin	16.8
Small intestine	11.5
Smooth muscle	47.3
Spleen	21.4
Stomach	12.6
Testis	71.7
Thyroid gland	32.3
Tonsil	38.5
Urinary bladder	16.8

> Text Mining based Expression

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PMID	Expression	Cancer	Evidence
27420608	altered expression	Endometrial Carcinoma	Multivariate survival analysis revealed that MSH6 gene expression was associated with outcome of endometrial cancer patients independently from traditional prognostic clinicopathologic parameters, which was confirmed in an independent cohort at the protein level.
26371427	Loss of expression	Gastric Carcinoma	Loss of MLH1 and/or PMS2 was found in 30 (88%) MSI-GC, 3 (9%) showed loss of MSH2 and/or MSH6.
26099011	Loss of expression	Colorectal Carcinoma; Endometrial Carcinoma; Sebaceous Neoplasm	Heterogenous MSH6 loss was seen in colorectal carcinoma (n=18), endometrial carcinoma (n=3), and sebaceous neoplasm (n=1).
25503122	Overexpression	Osteosarcoma	Significantly shorter survival times were associated with expression of MSH6, MSH2/6, as well as simultaneous non-response to chemotherapy and presence of metastasis.
24518125	Loss of expression	Gastric Carcinoma; Colorectal Carcinoma	All gastric and colonic carcinomas were MSI-high and lost expressions of MLH1/PMS2 in 11 (73%) cases and MSH2/MSH6 in 4 (27%) cases.
22456432	Loss of expression	Small Intestinal Carcinoma	The loss of expression of hMLH1, hMSH2 and hMSH6 was identified in 25/193 (13.0%), 25/193 (13%) and 29/195 (15%), respectively.
21499234	Loss of expression	Colorectal Carcinoma; Gynecologic Tract Carcinoma	Concurrent loss of MLH1 and PMS2 was the most common pattern of abnormal expression (50/432, 12%) followed by concurrent loss of MSH2 and MSH6 (33/432, 8%).
21425258	Underexpression	Glioblastoma	However, recurrent glioblastomas demonstrated significantly lower MSH2, MSH6 and PMS2 protein expression as detected by immunohistochemistry.
20655395	Loss of expression	Colorectal Carcinoma	Interestingly, only 38% of the MMR-deficient CRCs lost either MLH1 or MSH2, whereas 63% of the MMR-deficient CRC samples lost either PMS2 or MSH6.
28675510	Overexpression	Colorectal Carcinoma	Of the 74 TSGs evaluated, 22 were associated with carcinoma/normal mucosa differential expression. Ten TSGs were up-regulated (FAM123B, RB1, TP53, RUNX1, MSH2, BRCA1, BRCA2, SOX9, NPM1, and RNF43); six TSGs were down-regulated (PAX5, IZKF1, GATA3, PRDM1, TET2, and CYLD); four were associated with MSI tumors (MLH1, PTCH1, and CEBPA down-regulated and MSH6 up-regulated); and two were associated with MSS tumors (PHF6 and ASXL1 up-regulated).
28664346	Loss of Expression	Gastric Carcinoma	Patients with loss of MLH1/PMS2 without BRAF mutations or with absence of MLH1 promoter methylation and those with loss of MSH2/MSH6 were referred to GC.
28646840	Loss of Expression	Colorectal Carcinoma	Of 322 CRCs, 33 cases were found to be deficient-MMR; 22 of these had concurrent loss of MLH1 and PMS2, followed by concurrent loss of MSH2 and MSH6 in 8 CRCs.
28605329	Loss of Expression	Colon Adenocarcinoma	Expression loss of MLH1, MSH2, MSH6, PMS2, PTEN, Smad4 and E-cadherin, and overexpression of ALDH1, CD44, CAIX, P504S (AMACR), TGFΒ, and ZEB1 were statistically significant in CRA compared to normal colon mucosa.
28585041	Loss of Expression	Colorectal Carcinoma	Out of a total of 371 cases, 62 (16.7%) cases were of stage II CRC, out of which 43 (12%) were treatment naive. Among the selected 62 cases, 26 (41.9%) demonstrated loss of MMR proteins and 36 (58.0%) cases had intact nuclear expression. Out of the cases with MMR loss, 38.4% showed loss of MLH1 and PMS2, 30.7% showed loss of MSH2 and MSH6, 26.9% showed isolated loss of PMS2 and 3.8% showed isolated loss of MSH6.
28555354	Loss of Expression	Lynch Syndrome	We report on a 52-year-old male with Lynch syndrome caused by deletion of chromosome 2p16.3-p21. The patient had intellectual disability and presented with a prostatic adenocarcinoma with an incidentally identified synchronous sigmoid adenocarcinoma that exhibited deficient MMR with an absence of MSH2 and MSH6 protein expression.
28507641	Underexpression	Breast Carcinoma; Skin Squamous Cell Carcinoma	We present the case of a 45-year-old-woman, diagnosed with breast cancer at 39years of age and skin squamous cell carcinoma (SCC) at 41years of age, without personal history of colorectal cancer. The microsatellite instability analysis performed on the skin SCC showed a low-level of microsatellite instability (MSI-Low). The immunohistochemical expression analysis of the four DNA mismatch repair proteins MLH1, MSH2, MSH6 and PMS2 showed a partial loss of the expression of MSH2 and MSH6 proteins.
28460341	Mutation; Loss of Expression	Brain Neoplasm	Comprehensive genomic profiling of the patient's resected brain tumor revealed mutations in six genes: PTEN, VHL, MSH6, NOTCH1, RB1, and TP53. Subsequently we performed immunohistochemical staining of the tumor tissue which demonstrated widespread loss of MSH6 with intact MSH2, MLH1, and PMS2.
28133107	Loss of Expression	Colorectal Carcinoma	The subjects were 254 patients with Stage IV colorectal cancer whose tumors were immunohistochemically stained for MMR proteins, MLH1, MSH2, MSH6, and PMS2. Four patients demonstrated both MLH1 and PMS2 loss, while 3 patients demonstrated both MSH2 and MSH6 loss.
28114191	Loss of Expression	Endometrial Carcinoma	A total of 41 cases were identified and 27 (66%) tumors demonstrated MMR protein deficiency with a comparable frequency across the contributing centers (ranging from 56% to 83%). Among the MMR protein-deficient cases, 59% showed concurrent MLH1 and PMS2 loss, 33% showed concurrent MSH2 and MSH6 loss, and 4% showed isolated PMS2 or MSH6 loss.
27771121	Loss of Expression	Waldenstrom Macroglobulinemia	Herein, we report a case of a male patient presenting Waldenstrom's macroglobulinemia since the age of 50 and which, after the age of 65 years, developed into sebaceous tumours (5 sebaceous adenomas, 1 sebaceoma, 1 sebaceous carcinoma) and colonic lesions (4 adenomas). The clinical phenotype was consistent with MTS. Somatic analysis carried out on one sebaceous tumour showed instability of the microsatellites with loss of expression of MSH2 and MSH6 although constitutional genetic analysis showed no germline mutations known to be harmful.
27713421	Loss of Expression	Lynch Syndrome	MLH1 and PMS2 testing appear to have little utility in upper tract urothelial carcinoma; however, mismatch repair protein loss of MSH2 and/or MSH6 by immunohistochemistry seems relatively sensitive and specific for identifying patients with potential Lynch syndrome.
27442838	Loss of Expression	Colon Carcinoma; Rectal Carcinoma	Thirty-two consecutive cases of stage III/IV ovarian CCCs accessioned between 1992 and 2015 were examined. The tumours from two patients (6%), including the index case, showed loss of MSH2/MSH6 expression while MLH1/PMS2 staining was retained. The index patient subsequently developed colonic and rectal carcinomas that were also MSH2/MSH6-deficient, while the second patient had a genetically confirmed germline MSH2 mutation.
26371427	Loss of Expression	Gastric Carcinoma	Loss of MLH1 and/or PMS2 was found in 30 (88%) MSI-GC, 3 (9%) showed loss of MSH2 and/or MSH6.

Summary
Symbol	MSH6
Name	mutS homolog 6
Aliases	GTBP; mutS (E. coli) homolog 6; mutS homolog 6 (E. coli); GTMBP; HNPCC5; HSAP; G/T mismatch-binding protein; ......
Location	2p16.3
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)

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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	0.387	6.91e-16	7.4	60.6	31.9	Neutral
BRCA	Breast invasive carcinoma	1075	0.439	9.53e-52	14.5	69.2	16.3	Neutral
CESC	Cervical and endocervical cancers	292	0.521	1e-21	5.1	70.5	24.3	Neutral
COAD	Colon adenocarcinoma	449	0.248	1.05e-07	2.2	78.8	18.9	Neutral
ESCA	Esophageal carcinoma	183	0.398	2.49e-08	7.1	55.2	37.7	Gain
GBM	Glioblastoma multiforme	147	0.139	0.0937	4.8	87.1	8.2	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.394	1.45e-20	5.4	73.5	21	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.363	8.14e-18	3	82.5	14.5	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	0.152	0.00981	2.4	83	14.6	Neutral
LAML	Acute Myeloid Leukemia	166	0.057	0.465	0	99.4	0.6	Neutral
LGG	Brain Lower Grade Glioma	513	0.233	8.91e-08	4.5	92.4	3.1	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.196	0.000168	8.8	78.6	12.6	Neutral
LUAD	Lung adenocarcinoma	512	0.454	2.07e-27	5.5	64.6	29.9	Neutral
LUSC	Lung squamous cell carcinoma	498	0.612	1.6e-52	2.4	45.2	52.4	Gain
OV	Ovarian serous cystadenocarcinoma	300	0.619	3.83e-33	11	42.3	46.7	Gain
PAAD	Pancreatic adenocarcinoma	177	0.254	0.000647	8.5	83.1	8.5	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.426	1.55e-08	6.2	90.1	3.7	Neutral
PRAD	Prostate adenocarcinoma	491	0.372	1.54e-17	6.3	90.6	3.1	Neutral
READ	Rectum adenocarcinoma	164	0.378	5.93e-07	7.9	68.3	23.8	Neutral
SARC	Sarcoma	255	0.313	3.32e-07	32.9	54.5	12.5	Neutral
SKCM	Skin Cutaneous Melanoma	367	0.483	6.79e-23	13.9	67.8	18.3	Neutral
STAD	Stomach adenocarcinoma	413	0.28	7.41e-09	5.1	75.1	19.9	Neutral
TGCT	Testicular Germ Cell Tumors	150	0.168	0.0395	3.3	58	38.7	Gain
THCA	Thyroid carcinoma	497	0.263	2.52e-09	2	97.6	0.4	Neutral
THYM	Thymoma	119	0.086	0.354	0.8	98.3	0.8	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.335	1.65e-15	1.9	77.3	20.9	Neutral

Summary
Symbol	MSH6
Name	mutS homolog 6
Aliases	GTBP; mutS (E. coli) homolog 6; mutS homolog 6 (E. coli); GTMBP; HNPCC5; HSAP; G/T mismatch-binding protein; ......
Location	2p16.3
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

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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	-0.062	0.2	17	408	-0.001	0.831	NS/NA
BRCA	Breast invasive carcinoma	-0.191	1.53e-08	83	785	0.002	8.01e-13	NS/NA
CESC	Cervical and endocervical cancers	-0.157	0.00561	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.091	0.107	19	297	0.001	0.106	NS/NA
ESCA	Esophageal carcinoma	-0.138	0.0555	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.126	0.318	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.168	9.04e-05	20	522	0.043	4.57e-05	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.193	0.000322	24	319	-0.009	0.112	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.138	0.0174	23	275	0.001	0.464	NS/NA
LAML	Acute Myeloid Leukemia	-0.016	0.836	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.072	0.0976	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.121	0.014	41	373	-0.039	8.17e-07	NS/NA
LUAD	Lung adenocarcinoma	-0.156	0.000629	21	456	0.024	0.0491	NS/NA
LUSC	Lung squamous cell carcinoma	-0.262	2.7e-07	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.567	0.121	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.28	0.000132	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.223	0.00224	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.23	8.73e-08	35	498	-0.002	0.395	NS/NA
READ	Rectum adenocarcinoma	-0.074	0.462	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.179	0.00359	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.175	0.000133	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.15	0.00376	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.385	8.76e-07	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.17	5.7e-05	50	509	0	0.838	NS/NA
THYM	Thymoma	-0.188	0.0381	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.093	0.0461	34	431	-0.001	0.51	NS/NA

Summary
Symbol	MSH6
Name	mutS homolog 6
Aliases	GTBP; mutS (E. coli) homolog 6; mutS homolog 6 (E. coli); GTMBP; HNPCC5; HSAP; G/T mismatch-binding protein; ......
Location	2p16.3
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)

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Cancer	Full Name	# Sample	Median (abundance)	MAD (abundance)
BLCA	Bladder urothelial carcinoma	344	-0.092	0.367
BRCA	Breast invasive carcinoma	892	-0.028	0.378
CESC	Cervical and endocervical cancers	173	-0.022	0.274
COAD	Colon adenocarcinoma	362	0.024	0.397
ESCA	Esophageal carcinoma	126	0.023	0.282
GBM	Glioblastoma multiforme	244	-0.073	0.341
KIRC	Kidney renal clear cell carcinoma	478	0.022	0.138
KIRP	Kidney renal papillary cell carcinoma	216	-0.071	0.184
LIHC	Liver hepatocellular carcinoma	184	-0.053	0.123
LUAD	Lung adenocarcinoma	365	-0.041	0.298
LUSC	Lung squamous cell carcinoma	328	0.015	0.435
OV	Ovarian serous cystadenocarcinoma	436	-0.036	0.453
PAAD	Pancreatic adenocarcinoma	123	0.042	0.168
PCPG	Pheochromocytoma and Paraganglioma	82	0.053	0.098
READ	Rectum adenocarcinoma	131	-0.037	0.407
SARC	Sarcoma	226	0.04	0.31
SKCM	Skin Cutaneous Melanoma	355	-0.053	0.358
TGCT	Testicular Germ Cell Tumors	122	-0.063	0.446
THCA	Thyroid carcinoma	224	0.566	0.156
THYM	Thymoma	90	0.111	0.421
UCEC	Uterine Corpus Endometrial Carcinoma	440	-0.023	0.326

> The Human Protein Atlas (HPA)

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

Summary
Symbol	MSH6
Name	mutS homolog 6
Aliases	GTBP; mutS (E. coli) homolog 6; mutS homolog 6 (E. coli); GTMBP; HNPCC5; HSAP; G/T mismatch-binding protein; ......
Location	2p16.3
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

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Association between expresson and subtype.

Cancer	Full Name	# Patients	P Value (Kruskal-Wallis)	Association	Source
BLCA	Bladder urothelial carcinoma	128	0.0144	Significant	24476821
BRCA	Breast invasive carcinoma	521	1.33e-33	Significant	23000897
COAD	Colon adenocarcinoma	149	0.492	NS	22810696
GBM	Glioblastoma multiforme	157	0.222	NS	26824661
HNSC	Head and Neck squamous cell carcinoma	279	1.99e-12	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.000397	Significant	26536169
LGG	Brain Lower Grade Glioma	513	0.443	NS	26824661
LUAD	Lung adenocarcinoma	230	6.66e-10	Significant	25079552
LUSC	Lung squamous cell carcinoma	178	5.5e-10	Significant	22960745
OV	Ovarian serous cystadenocarcinoma	287	5.48e-11	Significant	21720365
PRAD	Prostate adenocarcinoma	333	0.248	NS	26544944
READ	Rectum adenocarcinoma	67	0.51	NS	22810696
SKCM	Skin Cutaneous Melanoma	315	0.0356	Significant	26091043
STAD	Stomach adenocarcinoma	277	1.29e-07	Significant	25079317
THCA	Thyroid carcinoma	391	7.52e-06	Significant	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	8.46e-12	Significant	23636398

> Overall survival

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Overall survival analysis based on expression.

Cancer	Full Name	# Patients	Hazard Ratio	P Value (Log Rank Test)	Association
BLCA	Bladder urothelial carcinoma	405	1.309	0.226	NS
BRCA	Breast invasive carcinoma	1079	1.455	0.1	NS
CESC	Cervical and endocervical cancers	291	0.904	0.774	NS
COAD	Colon adenocarcinoma	439	0.693	0.197	NS
ESCA	Esophageal carcinoma	184	1.45	0.274	NS
GBM	Glioblastoma multiforme	158	1.15	0.604	NS
HNSC	Head and Neck squamous cell carcinoma	518	0.937	0.751	NS
KIRC	Kidney renal clear cell carcinoma	531	0.838	0.387	NS
KIRP	Kidney renal papillary cell carcinoma	287	3.61	0.00157	Shorter
LAML	Acute Myeloid Leukemia	149	0.872	0.647	NS
LGG	Brain Lower Grade Glioma	511	2.275	0.00093	Shorter
LIHC	Liver hepatocellular carcinoma	365	1.226	0.384	NS
LUAD	Lung adenocarcinoma	502	1.258	0.276	NS
LUSC	Lung squamous cell carcinoma	494	0.687	0.0466	Longer
OV	Ovarian serous cystadenocarcinoma	303	0.795	0.267	NS
PAAD	Pancreatic adenocarcinoma	177	1.33	0.301	NS
PCPG	Pheochromocytoma and Paraganglioma	179	1396084815.367	0.195	NS
PRAD	Prostate adenocarcinoma	497	1.75	0.536	NS
READ	Rectum adenocarcinoma	159	0.475	0.186	NS
SARC	Sarcoma	259	2.295	0.00447	Shorter
SKCM	Skin Cutaneous Melanoma	459	1.136	0.538	NS
STAD	Stomach adenocarcinoma	388	0.932	0.776	NS
TGCT	Testicular Germ Cell Tumors	134	0.719	0.818	NS
THCA	Thyroid carcinoma	500	0.243	0.187	NS
THYM	Thymoma	119	0	0.0152	Longer
UCEC	Uterine Corpus Endometrial Carcinoma	543	2.479	0.00215	Shorter

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	0.107	0.0306	Higher
BRCA	Breast invasive carcinoma	1071	0.014	0.638	NS
CESC	Cervical and endocervical cancers	167	-0.005	0.945	NS
COAD	Colon adenocarcinoma	445	-0.079	0.0969	NS
ESCA	Esophageal carcinoma	162	0.035	0.659	NS
HNSC	Head and Neck squamous cell carcinoma	448	0.074	0.118	NS
KIRC	Kidney renal clear cell carcinoma	531	-0.006	0.889	NS
KIRP	Kidney renal papillary cell carcinoma	260	0.263	1.69e-05	Higher
LIHC	Liver hepatocellular carcinoma	347	0.153	0.00429	Higher
LUAD	Lung adenocarcinoma	507	0.139	0.00165	Higher
LUSC	Lung squamous cell carcinoma	497	0.049	0.272	NS
OV	Ovarian serous cystadenocarcinoma	302	-0.037	0.523	NS
PAAD	Pancreatic adenocarcinoma	176	0.015	0.847	NS
READ	Rectum adenocarcinoma	156	-0.065	0.421	NS
SKCM	Skin Cutaneous Melanoma	410	-0.082	0.0967	NS
STAD	Stomach adenocarcinoma	392	-0.057	0.258	NS
TGCT	Testicular Germ Cell Tumors	81	0.129	0.25	NS
THCA	Thyroid carcinoma	499	-0.035	0.431	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	0.203	4.7e-06	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	0.107	0.0786	NS
HNSC	Head and Neck squamous cell carcinoma	498	0.296	1.48e-11	Higher
KIRC	Kidney renal clear cell carcinoma	525	-0.04	0.359	NS
LGG	Brain Lower Grade Glioma	514	0.252	7.08e-09	Higher
LIHC	Liver hepatocellular carcinoma	366	0.11	0.0354	Higher
OV	Ovarian serous cystadenocarcinoma	296	0.097	0.0974	NS
PAAD	Pancreatic adenocarcinoma	176	0.087	0.252	NS
STAD	Stomach adenocarcinoma	406	-0.007	0.882	NS
UCEC	Uterine Corpus Endometrial Carcinoma	534	0.434	5.57e-26	Higher

Summary
Symbol	MSH6
Name	mutS homolog 6
Aliases	GTBP; mutS (E. coli) homolog 6; mutS homolog 6 (E. coli); GTMBP; HNPCC5; HSAP; G/T mismatch-binding protein; ......
Location	2p16.3
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	MSH6
Name	mutS homolog 6
Aliases	GTBP; mutS (E. coli) homolog 6; mutS homolog 6 (E. coli); GTMBP; HNPCC5; HSAP; G/T mismatch-binding protein; ......
Location	2p16.3
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 MSH6.

Summary
Symbol	MSH6
Name	mutS homolog 6
Aliases	GTBP; mutS (E. coli) homolog 6; mutS homolog 6 (E. coli); GTMBP; HNPCC5; HSAP; G/T mismatch-binding protein; ......
Location	2p16.3
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

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PMID	Cancer	Hierarchy	Gene	Relation to CR	Evidence
22495361	Hereditary Nonpolyposis Colorectal Carcinoma	partner	pMSH6	correlation	In families carrying a pathogenic MSH6 mutation, 69.6% of 23 colon adenocarcinomas showed absence of pMSH6 in tumor tissue by immunohistochemical analysis.