CR2Cancer

Summary
Symbol	SETD2
Name	SET domain containing 2
Aliases	HYPB; HIF-1; KIAA1732; FLJ23184; KMT3A; HBP231; HSPC069; SET2; p231HBP; huntingtin yeast partner B; huntingt ......
Location	3p21.31
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

PF00856 SET domain
PF08236 SRI (Set2 Rpb1 interacting) domain
PF00397 WW domain

Function

Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate. Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation. Plays a role in chromatin structure modulation during elongation by coordinating recruitment of the FACT complex and by interacting with hyperphosphorylated POLR2A. Acts as a key regulator of DNA mismatch repair in G1 and early S phase by generating H3K36me3, a mark required to recruit MSH6 subunit of the MutS alpha complex: early recruitment of the MutS alpha complex to chromatin to be replicated allows a quick identification of mismatch DNA to initiate the mismatch repair reaction. H3K36me3 also plays an essential role in the maintenance of a heterochromatic state, by recruiting DNA methyltransferase DNMT3A. H3K36me3 is also enhanced in intron-containing genes, suggesting that SETD2 recruitment is enhanced by splicing and that splicing is coupled to recruitment of elongating RNA polymerase. Required during angiogenesis. Recruited to the promoters of adenovirus 12 E1A gene in case of infection, possibly leading to regulate its expression. Trimethylates 'Lys-40' of alpha-tubulins such as TUBA1B (alpha-TubK40me3) (PubMed:27518565). Alpha-TubK40me3 is required for normal mitosis and cytokinesis and is proposed to be a specific tag in cytoskeletal remodeling (PubMed:27518565).

Classification

Class	Modification	Substrate	Product	PubMed
Histone modification write	Histone methylation	H3K36me2	H3K36me3	16118227

> Gene Ontology [ TOP ]
Biological Process	GO:0001501 skeletal system development GO:0001525 angiogenesis GO:0001570 vasculogenesis GO:0001701 in utero embryonic development GO:0001763 morphogenesis of a branching structure GO:0001838 embryonic epithelial tube formation GO:0001841 neural tube formation GO:0001843 neural tube closure GO:0001890 placenta development GO:0001892 embryonic placenta development GO:0006298 mismatch repair GO:0006354 DNA-templated transcription, elongation GO:0006368 transcription elongation from RNA polymerase II promoter GO:0006403 RNA localization GO:0006405 RNA export from nucleus GO:0006406 mRNA export from nucleus GO:0006479 protein methylation GO:0006913 nucleocytoplasmic transport GO:0007498 mesoderm development GO:0007507 heart development GO:0008213 protein alkylation GO:0010452 histone H3-K36 methylation GO:0010793 regulation of mRNA export from nucleus GO:0014020 primary neural tube formation GO:0015931 nucleobase-containing compound transport GO:0016331 morphogenesis of embryonic epithelium GO:0016570 histone modification GO:0016571 histone methylation GO:0018022 peptidyl-lysine methylation GO:0018023 peptidyl-lysine trimethylation GO:0018027 peptidyl-lysine dimethylation GO:0018205 peptidyl-lysine modification GO:0021915 neural tube development GO:0030900 forebrain development GO:0032239 regulation of nucleobase-containing compound transport GO:0032259 methylation GO:0032386 regulation of intracellular transport GO:0034728 nucleosome organization GO:0034968 histone lysine methylation GO:0035148 tube formation GO:0035239 tube morphogenesis GO:0035441 cell migration involved in vasculogenesis GO:0043414 macromolecule methylation GO:0046822 regulation of nucleocytoplasmic transport GO:0046831 regulation of RNA export from nucleus GO:0048332 mesoderm morphogenesis GO:0048514 blood vessel morphogenesis GO:0048562 embryonic organ morphogenesis GO:0048568 embryonic organ development GO:0048608 reproductive structure development GO:0048701 embryonic cranial skeleton morphogenesis GO:0048704 embryonic skeletal system morphogenesis GO:0048705 skeletal system morphogenesis GO:0048706 embryonic skeletal system development GO:0048863 stem cell differentiation GO:0048864 stem cell development GO:0050657 nucleic acid transport GO:0050658 RNA transport GO:0051028 mRNA transport GO:0051168 nuclear export GO:0051169 nuclear transport GO:0051236 establishment of RNA localization GO:0060039 pericardium development GO:0060562 epithelial tube morphogenesis GO:0060606 tube closure GO:0060669 embryonic placenta morphogenesis GO:0060976 coronary vasculature development GO:0060977 coronary vasculature morphogenesis GO:0061458 reproductive system development GO:0071166 ribonucleoprotein complex localization GO:0071426 ribonucleoprotein complex export from nucleus GO:0071427 mRNA-containing ribonucleoprotein complex export from nucleus GO:0071824 protein-DNA complex subunit organization GO:0072175 epithelial tube formation GO:0097198 histone H3-K36 trimethylation GO:0097676 histone H3-K36 dimethylation GO:1904888 cranial skeletal system development GO:2000197 regulation of ribonucleoprotein complex localization
Molecular Function	GO:0008168 methyltransferase activity GO:0008170 N-methyltransferase activity GO:0008276 protein methyltransferase activity GO:0008757 S-adenosylmethionine-dependent methyltransferase activity GO:0016278 lysine N-methyltransferase activity GO:0016279 protein-lysine N-methyltransferase activity GO:0016741 transferase activity, transferring one-carbon groups GO:0018024 histone-lysine N-methyltransferase activity GO:0042054 histone methyltransferase activity GO:0046975 histone methyltransferase activity (H3-K36 specific)
Cellular Component	-

> KEGG and Reactome Pathway [ TOP ]
KEGG	hsa00310 Lysine degradation
Reactome	R-HSA-3247509: Chromatin modifying enzymes R-HSA-4839726: Chromatin organization R-HSA-3214841: PKMTs methylate histone lysines

Summary
Symbol	SETD2
Name	SET domain containing 2
Aliases	HYPB; HIF-1; KIAA1732; FLJ23184; KMT3A; HBP231; HSPC069; SET2; p231HBP; huntingtin yeast partner B; huntingt ......
Location	3p21.31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Mutation landscape in primary tumor tissue from TCGA > Mutation landscape in cancer cell line from CCLE > All mutations from COSMIC database V81 > Variations from text mining

> The Cancer Genome Atlas (TCGA) [ TOP ]

> Cancer Cell Line Encyclopedia (CCLE) [ TOP ]
There is no record.

> Catalogue of Somatic Mutations in Cancer (COSMIC)

[ TOP ]

COSMIC ID	CDS change	AA change	Mutation Type	Anatomical Site
COSM149376	c.4376C>T	p.P1459L	Substitution - Missense	Soft_tissue
COSM3392434	c.361T>C	p.S121P	Substitution - Missense	Pancreas
COSM3660583	c.4349A>T	p.E1450V	Substitution - Missense	Liver
COSM5348742	c.6050_6051insTCCT	p.E2017fs*7	Insertion - Frameshift	Liver
COSM3365356	c.3206+1G>T	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3427660	c.2173A>G	p.S725G	Substitution - Missense	Large_intestine
COSM1720389	c.5204C>T	p.S1735F	Substitution - Missense	Skin
COSM30492	c.3383G>A	p.C1128Y	Substitution - Missense	Kidney
COSM480144	c.3970T>C	p.W1324R	Substitution - Missense	Kidney
COSM1636931	c.3265C>T	p.R1089*	Substitution - Nonsense	Bone
COSM4991925	c.4773G>A	p.R1591R	Substitution - coding silent	Skin
COSM4793228	c.4477C>T	p.Q1493*	Substitution - Nonsense	Liver
COSM1670132	c.6145G>A	p.G2049R	Substitution - Missense	Large_intestine
COSM5430405	c.3727G>C	p.E1243Q	Substitution - Missense	Oesophagus
COSM4408290	c.1433T>G	p.L478*	Substitution - Nonsense	Pancreas
COSM3068971	c.3444delT	p.F1148fs*12	Deletion - Frameshift	Kidney
COSM1670132	c.6145G>A	p.G2049R	Substitution - Missense	Large_intestine
COSM480174	c.1830T>G	p.Y610*	Substitution - Nonsense	Kidney
COSM4606547	c.109C>T	p.R37*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4996344	c.6004T>G	p.F2002V	Substitution - Missense	Upper_aerodigestive_tract
COSM1045427	c.5846C>T	p.S1949L	Substitution - Missense	Endometrium
COSM277237	c.3058C>T	p.R1020C	Substitution - Missense	Large_intestine
COSM1732095	c.3769-1G>A	p.?	Unknown	Kidney
COSM30486	c.3392_3393delAT	p.N1131fs*2	Deletion - Frameshift	Kidney
COSM5621806	c.4039C>T	p.R1347C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43395	c.2267G>T	p.G756V	Substitution - Missense	Kidney
COSM149378	c.1731G>A	p.M577I	Substitution - Missense	Large_intestine
COSM1162138	c.2986T>C	p.C996R	Substitution - Missense	Kidney
COSM3365346	c.4600+3A>T	p.?	Unknown	Kidney
COSM277237	c.3058C>T	p.R1020C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5756290	c.2810delC	p.P937fs*43	Deletion - Frameshift	Large_intestine
COSM1161941	c.2900C>T	p.P967L	Substitution - Missense	Kidney
COSM5891771	c.3994C>T	p.P1332S	Substitution - Missense	Skin
COSM5547651	c.1492delT	p.S498fs*5	Deletion - Frameshift	Prostate
COSM3069015	c.2952G>A	p.K984K	Substitution - coding silent	Large_intestine
COSM5631938	c.2073A>G	p.I691M	Substitution - Missense	Oesophagus
COSM1617682	c.2801C>G	p.S934*	Substitution - Nonsense	Liver
COSM4422665	c.5518G>T	p.G1840*	Substitution - Nonsense	Kidney
COSM5447563	c.3988G>A	p.A1330T	Substitution - Missense	Large_intestine
COSM480180	c.672C>A	p.C224*	Substitution - Nonsense	Kidney
COSM5418705	c.5589+2T>G	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM149376	c.4376C>T	p.P1459L	Substitution - Missense	Soft_tissue
COSM3781642	c.3613C>T	p.R1205*	Substitution - Nonsense	Pancreas
COSM4410977	c.126T>A	p.Y42*	Substitution - Nonsense	Kidney
COSM1732533	c.655C>T	p.Q219*	Substitution - Nonsense	Soft_tissue
COSM5813852	c.2623A>T	p.K875*	Substitution - Nonsense	Liver
COSM4793815	c.4813G>A	p.V1605I	Substitution - Missense	Liver
COSM3594656	c.4427C>T	p.P1476L	Substitution - Missense	Skin
COSM1732100	c.3883G>T	p.E1295*	Substitution - Nonsense	Kidney
COSM4118001	c.3892A>G	p.I1298V	Substitution - Missense	Stomach
COSM5005586	c.3283C>T	p.R1095*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5731040	c.3251_3252delAA	p.K1084fs*3	Deletion - Frameshift	Breast
COSM315108	c.5463C>G	p.A1821A	Substitution - coding silent	Lung
COSM51855	c.1417A>T	p.R473*	Substitution - Nonsense	Kidney
COSM5032201	c.?	p.R1122H	Substitution - Missense	Lung
COSM5471746	c.2036G>A	p.G679D	Substitution - Missense	Large_intestine
COSM4410607	c.3457_3458insGAAG	p.V1153fs*11	Insertion - Frameshift	Kidney
COSM4625107	c.3470C>T	p.S1157L	Substitution - Missense	Large_intestine
COSM1186263	c.5828A>T	p.E1943V	Substitution - Missense	Lung
COSM4929247	c.4844C>T	p.T1615I	Substitution - Missense	Liver
COSM1045487	c.1899A>C	p.G633G	Substitution - coding silent	Endometrium
COSM5075571	c.6020G>T	p.R2007L	Substitution - Missense	Kidney
COSM5730835	c.4678A>T	p.R1560*	Substitution - Nonsense	Breast
COSM1423578	c.1425A>C	p.E475D	Substitution - Missense	Large_intestine
COSM5075570	c.3305A>G	p.Y1102C	Substitution - Missense	Kidney
COSM5708768	c.3709C>T	p.R1237W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1732533	c.655C>T	p.Q219*	Substitution - Nonsense	Skin
COSM4167975	c.3382T>A	p.C1128S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM214254	c.2143C>T	p.Q715*	Substitution - Nonsense	Breast
COSM3767456	c.3757G>A	p.E1253K	Substitution - Missense	Liver
COSM5025041	c.5060C>A	p.P1687H	Substitution - Missense	Breast
COSM1692706	c.3298C>T	p.H1100Y	Substitution - Missense	Skin
COSM1265338	c.789G>A	p.M263I	Substitution - Missense	Oesophagus
COSM4916637	c.1558A>G	p.S520G	Substitution - Missense	Liver
COSM4118009	c.3258T>C	p.F1086F	Substitution - coding silent	Stomach
COSM5615287	c.2726_2729delAGAG	p.E909fs*19	Deletion - Frameshift	Lung
COSM3775075	c.3309C>T	p.F1103F	Substitution - coding silent	Urinary_tract
COSM480150	c.3649G>T	p.E1217*	Substitution - Nonsense	Kidney
COSM4584400	c.4905G>A	p.Q1635Q	Substitution - coding silent	Bone
COSM5399477	c.1559G>A	p.S520N	Substitution - Missense	Skin
COSM1617676	c.3738_3739delGC	p.Q1247fs*38	Deletion - Frameshift	Liver
COSM164277	c.688G>C	p.D230H	Substitution - Missense	Breast
COSM480178	c.1408A>T	p.R470*	Substitution - Nonsense	Kidney
COSM3358451	c.5605_5612delACAAATAA	p.T1869fs*54	Deletion - Frameshift	Kidney
COSM3365338	c.6024G>A	p.K2008K	Substitution - coding silent	Kidney
COSM307695	c.3352G>A	p.G1118R	Substitution - Missense	Kidney
COSM5507270	c.4086C>T	p.S1362S	Substitution - coding silent	Biliary_tract
COSM404866	c.1116delG	p.S373fs*15	Deletion - Frameshift	Lung
COSM4725156	c.3532G>A	p.G1178R	Substitution - Missense	Large_intestine
COSM1186267	c.3937G>T	p.E1313*	Substitution - Nonsense	Breast
COSM5986594	c.3084_3085insGG	p.R1029fs*34	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4152453	c.4882C>T	p.Q1628*	Substitution - Nonsense	Kidney
COSM5575970	c.2800T>C	p.S934P	Substitution - Missense	Stomach
COSM3069037	c.2710delA	p.R904fs*5	Deletion - Frameshift	Large_intestine
COSM3358457	c.3824delT	p.L1275fs*9	Deletion - Frameshift	Kidney
COSM4625105	c.6071C>A	p.P2024H	Substitution - Missense	Large_intestine
COSM419980	c.430G>A	p.D144N	Substitution - Missense	Urinary_tract
COSM43394	c.455T>A	p.L152*	Substitution - Nonsense	Kidney
COSM5423526	c.5158delG	p.V1720fs*25	Deletion - Frameshift	Prostate
COSM149376	c.4376C>T	p.P1459L	Substitution - Missense	Soft_tissue
COSM1045477	c.2782G>A	p.V928I	Substitution - Missense	Endometrium
COSM1265340	c.5110C>G	p.Q1704E	Substitution - Missense	Oesophagus
COSM419984	c.3376C>T	p.H1126Y	Substitution - Missense	Upper_aerodigestive_tract
COSM5715695	c.5092G>C	p.A1698P	Substitution - Missense	Skin
COSM1045447	c.4037C>T	p.S1346L	Substitution - Missense	Endometrium
COSM149376	c.4376C>T	p.P1459L	Substitution - Missense	Stomach
COSM4989873	c.?	p.V1732L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5611706	c.3436G>C	p.G1146R	Substitution - Missense	Adrenal_gland
COSM3660583	c.4349A>T	p.E1450V	Substitution - Missense	Liver
COSM4642779	c.5945G>A	p.C1982Y	Substitution - Missense	Large_intestine
COSM5570981	c.5195T>C	p.V1732A	Substitution - Missense	Prostate
COSM480168	c.2769A>G	p.K923K	Substitution - coding silent	Kidney
COSM5015990	c.5959delC	p.R1987fs*23	Deletion - Frameshift	Kidney
COSM5006580	c.?_?del?	p.?fs	Deletion - Frameshift	Kidney
COSM1167718	c.1583delT	p.V528fs*90	Deletion - Frameshift	Skin
COSM4494531	c.2841C>T	p.V947V	Substitution - coding silent	Skin
COSM5015994	c.4404_4407delAGAA	p.E1468fs*34	Deletion - Frameshift	Kidney
COSM1161941	c.2900C>T	p.P967L	Substitution - Missense	Kidney
COSM1225356	c.2456G>A	p.R819Q	Substitution - Missense	Large_intestine
COSM1692710	c.1690C>T	p.Q564*	Substitution - Nonsense	Skin
COSM4975159	c.2752C>G	p.L918V	Substitution - Missense	Oesophagus
COSM308425	c.2388C>T	p.Y796Y	Substitution - coding silent	Kidney
COSM3974436	c.4670C>G	p.S1557*	Substitution - Nonsense	Central_nervous_system
COSM4837143	c.2111C>G	p.S704C	Substitution - Missense	Cervix
COSM1186271	c.1643C>A	p.S548*	Substitution - Nonsense	Lung
COSM2157022	c.3330+2T>C	p.?	Unknown	Central_nervous_system
COSM4410607	c.3457_3458insGAAG	p.V1153fs*11	Insertion - Frameshift	Kidney
COSM4767749	c.3183G>C	p.L1061F	Substitution - Missense	Biliary_tract
COSM3594673	c.3109T>C	p.S1037P	Substitution - Missense	Kidney
COSM730711	c.3365G>A	p.R1122H	Substitution - Missense	Kidney
COSM3594677	c.2480C>T	p.S827F	Substitution - Missense	Skin
COSM3669152	c.411T>C	p.F137F	Substitution - coding silent	Liver
COSM303184	c.1625C>A	p.S542*	Substitution - Nonsense	Central_nervous_system
COSM5715695	c.5092G>C	p.A1698P	Substitution - Missense	Skin
COSM5708764	c.5329_5330insT	p.S1778fs*88	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5687940	c.4872A>G	p.Q1624Q	Substitution - coding silent	Soft_tissue
COSM3594660	c.4399C>T	p.L1467L	Substitution - coding silent	Skin
COSM1495577	c.5404G>T	p.V1802F	Substitution - Missense	Kidney
COSM3824003	c.3635T>G	p.V1212G	Substitution - Missense	Breast
COSM79281	c.1438G>T	p.E480*	Substitution - Nonsense	Ovary
COSM3365342	c.5841+1G>C	p.?	Unknown	Kidney
COSM1670134	c.3349A>C	p.K1117Q	Substitution - Missense	Large_intestine
COSM1137042	c.6020G>A	p.R2007H	Substitution - Missense	Kidney
COSM5017471	c.154delT	p.Y52fs*24	Deletion - Frameshift	Soft_tissue
COSM5790929	c.177T>C	p.P59P	Substitution - coding silent	Breast
COSM3824005	c.2204C>A	p.S735Y	Substitution - Missense	Breast
COSM4410607	c.3457_3458insGAAG	p.V1153fs*11	Insertion - Frameshift	Kidney
COSM1225356	c.2456G>A	p.R819Q	Substitution - Missense	Large_intestine
COSM4795601	c.2238G>A	p.L746L	Substitution - coding silent	Liver
COSM1045491	c.1171A>G	p.S391G	Substitution - Missense	Endometrium
COSM1045493	c.1085A>G	p.N362S	Substitution - Missense	Endometrium
COSM1045485	c.1958G>A	p.R653H	Substitution - Missense	Endometrium
COSM1423554	c.3152T>C	p.V1051A	Substitution - Missense	Liver
COSM1683924	c.6096_6097delTG	p.V2033fs*9	Deletion - Frameshift	Kidney
COSM1045475	c.2871G>A	p.W957*	Substitution - Nonsense	Endometrium
COSM4979793	c.5959C>T	p.R1987W	Substitution - Missense	Oesophagus
COSM4807885	c.5797G>T	p.E1933*	Substitution - Nonsense	Pancreas
COSM5925071	c.3797C>T	p.S1266F	Substitution - Missense	Skin
COSM5600455	c.3866G>A	p.S1289N	Substitution - Missense	Skin
COSM4979793	c.5959C>T	p.R1987W	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4152451	c.5827G>T	p.E1943*	Substitution - Nonsense	Kidney
COSM3069087	c.1685G>A	p.R562H	Substitution - Missense	Stomach
COSM1581661	c.774G>A	p.M258I	Substitution - Missense	Liver
COSM3770643	c.3206delC	p.S1069fs*1	Deletion - Frameshift	Soft_tissue
COSM5881428	c.?	p.P2054L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4606548	c.2059G>A	p.V687M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3670330	c.349C>T	p.R117*	Substitution - Nonsense	Central_nervous_system
COSM4754415	c.3190G>A	p.A1064T	Substitution - Missense	Stomach
COSM3824013	c.251C>G	p.S84C	Substitution - Missense	Breast
COSM5011102	c.2806C>T	p.P936S	Substitution - Missense	Kidney
COSM5948753	c.4208A>C	p.K1403T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1581659	c.1147C>G	p.L383V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5762043	c.1010delA	p.N337fs*2	Deletion - Frameshift	Pancreas
COSM5006580	c.?_?del?	p.?fs	Deletion - Frameshift	Kidney
COSM480182	c.344C>G	p.S115*	Substitution - Nonsense	Breast
COSM249600	c.2905_2906insA	p.Y969fs*1	Insertion - Frameshift	Kidney
COSM3824007	c.1323T>G	p.A441A	Substitution - coding silent	Breast
COSM2150737	c.6115G>A	p.E2039K	Substitution - Missense	Large_intestine
COSM4189194	c.2606_2607insA	p.S870fs*6	Insertion - Frameshift	Kidney
COSM30419	c.3421G>T	p.G1141*	Substitution - Nonsense	Kidney
COSM5730599	c.1525delA	p.S509fs*4	Deletion - Frameshift	Breast
COSM249420	c.4398delA	p.K1466fs*2	Deletion - Frameshift	Kidney
COSM1665743	c.1313delA	p.K438fs*41	Deletion - Frameshift	Kidney
COSM4410607	c.3457_3458insGAAG	p.V1153fs*11	Insertion - Frameshift	Kidney
COSM5730833	c.3124C>T	p.Q1042*	Substitution - Nonsense	Breast
COSM177194	c.40G>T	p.E14*	Substitution - Nonsense	Endometrium
COSM1692704	c.3976C>T	p.Q1326*	Substitution - Nonsense	Kidney
COSM5898829	c.1394C>T	p.S465F	Substitution - Missense	Skin
COSM3408709	c.2870G>A	p.W957*	Substitution - Nonsense	Central_nervous_system
COSM5986179	c.2246C>A	p.S749*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM43396	c.3769_3777del9	p.N1257_H1259del	Deletion - In frame	Kidney
COSM268022	c.5354C>T	p.P1785L	Substitution - Missense	Large_intestine
COSM5986195	c.237C>G	p.I79M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1538064	c.2993G>C	p.C998S	Substitution - Missense	Kidney
COSM1045469	c.2978G>A	p.R993Q	Substitution - Missense	Endometrium
COSM5006580	c.?_?del?	p.?fs	Deletion - Frameshift	Kidney
COSM1423562	c.2764A>C	p.K922Q	Substitution - Missense	Large_intestine
COSM583991	c.3113A>G	p.N1038S	Substitution - Missense	Stomach
COSM1720389	c.5204C>T	p.S1735F	Substitution - Missense	Skin
COSM149376	c.4376C>T	p.P1459L	Substitution - Missense	Soft_tissue
COSM1045441	c.4510G>T	p.D1504Y	Substitution - Missense	Endometrium
COSM5350990	c.2258G>T	p.R753I	Substitution - Missense	Lung
COSM5807705	c.2209T>C	p.S737P	Substitution - Missense	Liver
COSM5986177	c.3751T>C	p.C1251R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4135358	c.4609C>T	p.R1537*	Substitution - Nonsense	Pancreas
COSM3380600	c.3362C>T	p.S1121F	Substitution - Missense	Pancreas
COSM30356	c.3152T>G	p.V1051G	Substitution - Missense	Kidney
COSM149376	c.4376C>T	p.P1459L	Substitution - Missense	Soft_tissue
COSM4158078	c.384T>A	p.D128E	Substitution - Missense	Thyroid
COSM4117999	c.4885C>T	p.R1629W	Substitution - Missense	Stomach
COSM4954512	c.5524G>A	p.V1842M	Substitution - Missense	Liver
COSM4725150	c.4713A>G	p.K1571K	Substitution - coding silent	Large_intestine
COSM1617678	c.3377A>G	p.H1126R	Substitution - Missense	Liver
COSM1423564	c.2705A>C	p.K902T	Substitution - Missense	Large_intestine
COSM4996346	c.3808C>T	p.R1270C	Substitution - Missense	Upper_aerodigestive_tract
COSM5413446	c.2808C>T	p.P936P	Substitution - coding silent	Skin
COSM5925071	c.3797C>T	p.S1266F	Substitution - Missense	Skin
COSM4793815	c.4813G>A	p.V1605I	Substitution - Missense	Liver
COSM391860	c.4706_4707delAA	p.K1569fs*17	Deletion - Frameshift	Lung
COSM149376	c.4376C>T	p.P1459L	Substitution - Missense	Prostate
COSM5986183	c.1633G>C	p.E545Q	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3365350	c.4472G>A	p.R1491K	Substitution - Missense	Kidney
COSM4152459	c.3973T>C	p.S1325P	Substitution - Missense	Kidney
COSM4117995	c.4971G>A	p.P1657P	Substitution - coding silent	Stomach
COSM4118017	c.2372G>A	p.G791D	Substitution - Missense	Stomach
COSM4152457	c.3983A>G	p.K1328R	Substitution - Missense	Kidney
COSM5006580	c.?_?del?	p.?fs	Deletion - Frameshift	Kidney
COSM4795601	c.2238G>A	p.L746L	Substitution - coding silent	Liver
COSM149376	c.4376C>T	p.P1459L	Substitution - Missense	Soft_tissue
COSM149376	c.4376C>T	p.P1459L	Substitution - Missense	Soft_tissue
COSM164279	c.5686C>T	p.R1896*	Substitution - Nonsense	Breast
COSM480140	c.4381G>T	p.E1461*	Substitution - Nonsense	Kidney
COSM1045455	c.3619C>T	p.R1207C	Substitution - Missense	Endometrium
COSM1485239	c.5960G>A	p.R1987Q	Substitution - Missense	Prostate
COSM4152461	c.3038G>C	p.C1013S	Substitution - Missense	Kidney
COSM4725152	c.4391G>A	p.G1464D	Substitution - Missense	Large_intestine
COSM1045447	c.4037C>T	p.S1346L	Substitution - Missense	Cervix
COSM3068955	c.3797C>A	p.S1266Y	Substitution - Missense	Upper_aerodigestive_tract
COSM3069095	c.1391A>C	p.N464T	Substitution - Missense	Large_intestine
COSM4725158	c.2952G>T	p.K984N	Substitution - Missense	Large_intestine
COSM149378	c.1731G>A	p.M577I	Substitution - Missense	Soft_tissue
COSM5006579	c.?	p.S63T	Substitution - Missense	Kidney
COSM1732201	c.4222C>T	p.Q1408*	Substitution - Nonsense	Kidney
COSM4972234	c.2899C>A	p.P967T	Substitution - Missense	Thyroid
COSM1045479	c.2671G>T	p.E891*	Substitution - Nonsense	Endometrium
COSM1309193	c.2326G>A	p.G776R	Substitution - Missense	Urinary_tract
COSM1732058	c.170C>G	p.S57*	Substitution - Nonsense	Kidney
COSM419984	c.3376C>T	p.H1126Y	Substitution - Missense	Urinary_tract
COSM3824001	c.3700A>G	p.S1234G	Substitution - Missense	Breast
COSM3365358	c.2987G>A	p.C996Y	Substitution - Missense	Kidney
COSM149376	c.4376C>T	p.P1459L	Substitution - Missense	Soft_tissue
COSM189824	c.3439T>G	p.F1147V	Substitution - Missense	Breast
COSM5354982	c.4771delA	p.R1591fs*53	Deletion - Frameshift	Large_intestine
COSM5355158	c.5946C>A	p.C1982*	Substitution - Nonsense	Large_intestine
COSM1045423	c.5975A>C	p.K1992T	Substitution - Missense	Endometrium
COSM4998124	c.1096G>T	p.D366Y	Substitution - Missense	Pancreas
COSM1732053	c.2559delT	p.L854fs*16	Deletion - Frameshift	Kidney
COSM5730597	c.3620delG	p.R1207fs*10	Deletion - Frameshift	Breast
COSM30495	c.5218delC	p.Q1740fs*5	Deletion - Frameshift	Kidney
COSM4994077	c.3548G>C	p.R1183P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1045437	c.4721G>A	p.R1574Q	Substitution - Missense	Endometrium
COSM1328198	c.5080G>C	p.V1694L	Substitution - Missense	Ovary
COSM345529	c.3507-1G>C	p.?	Unknown	Lung
COSM4584402	c.3985A>T	p.T1329S	Substitution - Missense	Bone
COSM4606550	c.?_?insAG	p.K1466fs*?	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1423574	c.1439A>G	p.E480G	Substitution - Missense	Liver
COSM1186265	c.4539G>T	p.W1513C	Substitution - Missense	Kidney
COSM3824011	c.624C>T	p.V208V	Substitution - coding silent	Breast
COSM1581653	c.5376A>G	p.I1792M	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3365360	c.103G>T	p.G35*	Substitution - Nonsense	Kidney
COSM1659583	c.5356G>T	p.A1786S	Substitution - Missense	Kidney
COSM1664116	c.1376C>G	p.A459G	Substitution - Missense	Kidney
COSM3696121	c.1493C>G	p.S498C	Substitution - Missense	Large_intestine
COSM3665420	c.4625_4626insT	p.G1543fs*13	Insertion - Frameshift	Liver
COSM4152455	c.4873G>T	p.E1625*	Substitution - Nonsense	Kidney
COSM4991929	c.2497G>T	p.E833*	Substitution - Nonsense	Skin
COSM5730601	c.3573_3574delAG	p.R1191fs*17	Deletion - Frameshift	Breast
COSM1581657	c.3218T>G	p.V1073G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1045497	c.606G>A	p.S202S	Substitution - coding silent	Endometrium
COSM4506395	c.5684C>T	p.A1895V	Substitution - Missense	Skin
COSM5020898	c.5012A>G	p.Q1671R	Substitution - Missense	Soft_tissue
COSM1423580	c.815T>G	p.V272G	Substitution - Missense	Large_intestine
COSM419986	c.3506+1G>A	p.?	Unknown	Urinary_tract
COSM4498914	c.3798C>T	p.S1266S	Substitution - coding silent	Skin
COSM1265342	c.3584G>C	p.R1195T	Substitution - Missense	Oesophagus
COSM419982	c.2977C>T	p.R993*	Substitution - Nonsense	Urinary_tract
COSM3940546	c.986A>C	p.K329T	Substitution - Missense	Oesophagus
COSM1581661	c.774G>A	p.M258I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1186265	c.4539G>T	p.W1513C	Substitution - Missense	Lung
COSM5075570	c.3305A>G	p.Y1102C	Substitution - Missense	Kidney
COSM480186	c.4G>T	p.E2*	Substitution - Nonsense	Kidney
COSM30369	c.2965C>T	p.R989*	Substitution - Nonsense	Breast
COSM149376	c.4376C>T	p.P1459L	Substitution - Missense	Prostate
COSM149378	c.1731G>A	p.M577I	Substitution - Missense	Stomach
COSM480148	c.3836G>A	p.W1279*	Substitution - Nonsense	Kidney
COSM5006580	c.?_?del?	p.?fs	Deletion - Frameshift	Adrenal_gland
COSM419984	c.3376C>T	p.H1126Y	Substitution - Missense	Kidney
COSM5731029	c.3680_3681delCT	p.S1227fs*1	Deletion - Frameshift	Breast
COSM1670136	c.649G>A	p.G217R	Substitution - Missense	Skin
COSM1423580	c.815T>G	p.V272G	Substitution - Missense	Skin
COSM30421	c.1689C>G	p.L563L	Substitution - coding silent	Breast
COSM72607	c.3890T>A	p.I1297N	Substitution - Missense	Ovary
COSM4135358	c.4609C>T	p.R1537*	Substitution - Nonsense	Prostate
COSM5708776	c.463G>T	p.V155L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3594673	c.3109T>C	p.S1037P	Substitution - Missense	Skin
COSM4767632	c.3816G>A	p.G1272G	Substitution - coding silent	Biliary_tract
COSM730713	c.3464C>T	p.S1155L	Substitution - Missense	Kidney
COSM730717	c.3757G>T	p.E1253*	Substitution - Nonsense	Lung
COSM1423574	c.1439A>G	p.E480G	Substitution - Missense	Liver
COSM5600455	c.3866G>A	p.S1289N	Substitution - Missense	Skin
COSM1158242	c.4338_4340delACC	p.P1447delP	Deletion - In frame	Pancreas
COSM480182	c.344C>G	p.S115*	Substitution - Nonsense	Kidney
COSM1670134	c.3349A>C	p.K1117Q	Substitution - Missense	Large_intestine
COSM5731042	c.3754delC	p.L1252fs*13	Deletion - Frameshift	Breast
COSM1633202	c.2425A>T	p.R809*	Substitution - Nonsense	Liver
COSM4436625	c.104G>C	p.G35A	Substitution - Missense	Oesophagus
COSM43397	c.3337G>A	p.D1113N	Substitution - Missense	Kidney
COSM5498632	c.1125delT	p.I376fs*12	Deletion - Frameshift	Biliary_tract
COSM1485247	c.3365G>T	p.R1122L	Substitution - Missense	Breast
COSM480142	c.4097A>T	p.D1366V	Substitution - Missense	Kidney
COSM480170	c.2593C>T	p.Q865*	Substitution - Nonsense	Kidney
COSM5751333	c.2380_2381insA	p.R794fs*2	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5708770	c.2908T>C	p.F970L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4754417	c.2263T>G	p.L755V	Substitution - Missense	Stomach
COSM5751875	c.274_275insA	p.S92fs*4	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM149378	c.1731G>A	p.M577I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4954512	c.5524G>A	p.V1842M	Substitution - Missense	Liver
COSM5730831	c.3173G>T	p.G1058V	Substitution - Missense	Breast
COSM149376	c.4376C>T	p.P1459L	Substitution - Missense	Soft_tissue
COSM480170	c.2593C>T	p.Q865*	Substitution - Nonsense	Kidney
COSM4970576	c.4816C>T	p.R1606*	Substitution - Nonsense	Central_nervous_system
COSM3673982	c.1163A>T	p.K388M	Substitution - Missense	Prostate
COSM1045469	c.2978G>A	p.R993Q	Substitution - Missense	Adrenal_gland
COSM446615	c.2992T>C	p.C998R	Substitution - Missense	Breast
COSM4091154	c.3356A>T	p.N1119I	Substitution - Missense	Oesophagus
COSM384030	c.5785G>A	p.E1929K	Substitution - Missense	Lung
COSM382882	c.3634-1G>A	p.?	Unknown	Lung
COSM1485251	c.61A>C	p.N21H	Substitution - Missense	Breast
COSM1732047	c.4970delC	p.P1657fs*88	Deletion - Frameshift	Kidney
COSM3594675	c.2494C>T	p.R832C	Substitution - Missense	Skin
COSM5730825	c.3368T>G	p.F1123C	Substitution - Missense	Breast
COSM1423580	c.815T>G	p.V272G	Substitution - Missense	Skin
COSM1045435	c.5066C>A	p.P1689H	Substitution - Missense	Endometrium
COSM1423521	c.3929delA	p.N1310fs*25	Deletion - Frameshift	Large_intestine
COSM149376	c.4376C>T	p.P1459L	Substitution - Missense	Soft_tissue
COSM480170	c.2593C>T	p.Q865*	Substitution - Nonsense	Kidney
COSM3823999	c.4562G>A	p.R1521Q	Substitution - Missense	Oesophagus
COSM1732209	c.289T>G	p.L97V	Substitution - Missense	Kidney
COSM3916167	c.2297C>T	p.T766I	Substitution - Missense	Skin
COSM1732090	c.4493_4497delAAACA	p.K1498fs*5	Deletion - Frameshift	Kidney
COSM4939323	c.2222C>T	p.P741L	Substitution - Missense	Liver
COSM149376	c.4376C>T	p.P1459L	Substitution - Missense	Soft_tissue
COSM446609	c.6104delA	p.H2035fs*26	Deletion - Frameshift	Breast
COSM480146	c.3837G>A	p.W1279*	Substitution - Nonsense	Kidney
COSM1045433	c.5337A>G	p.V1779V	Substitution - coding silent	Endometrium
COSM30487	c.5619_5626delGGATCTGC	p.L1873fs*50	Deletion - Frameshift	Kidney
COSM3358459	c.2348_2349delAT	p.Y783fs*12	Deletion - Frameshift	Kidney
COSM30369	c.2965C>T	p.R989*	Substitution - Nonsense	Skin
COSM3365340	c.6020G>C	p.R2007P	Substitution - Missense	Kidney
COSM4798810	c.1017A>G	p.T339T	Substitution - coding silent	Liver
COSM4117997	c.4935A>G	p.S1645S	Substitution - coding silent	Stomach
COSM1161941	c.2900C>T	p.P967L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM43394	c.455T>A	p.L152*	Substitution - Nonsense	Kidney
COSM5715695	c.5092G>C	p.A1698P	Substitution - Missense	Skin
COSM30362	c.4333A>T	p.K1445*	Substitution - Nonsense	Kidney
COSM419984	c.3376C>T	p.H1126Y	Substitution - Missense	Skin
COSM5576132	c.2168C>A	p.P723Q	Substitution - Missense	Stomach
COSM3068953	c.3817C>T	p.L1273L	Substitution - coding silent	Upper_aerodigestive_tract
COSM1045505	c.77G>T	p.R26I	Substitution - Missense	Large_intestine
COSM5730597	c.3620delG	p.R1207fs*10	Deletion - Frameshift	Breast
COSM1660293	c.3485A>T	p.D1162V	Substitution - Missense	Kidney
COSM1045457	c.3460C>T	p.P1154S	Substitution - Missense	Endometrium
COSM30381	c.1850_1853delTAGC	p.I617fs*33	Deletion - Frameshift	Kidney
COSM249324	c.4409delC	p.P1470fs*33	Deletion - Frameshift	Kidney
COSM1045495	c.1042G>T	p.E348*	Substitution - Nonsense	Endometrium
COSM4988918	c.851A>C	p.K284T	Substitution - Missense	Soft_tissue
COSM3069007	c.3206+1G>A	p.?	Unknown	Kidney
COSM5986692	c.6007_6017del11	p.K2003fs*10	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3358453	c.5351_5352insAT	p.P1785fs*22	Insertion - Frameshift	Kidney
COSM5600455	c.3866G>A	p.S1289N	Substitution - Missense	Skin
COSM5986588	c.6024+1_6024+2insGG	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1581651	c.5752A>G	p.T1918A	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5694266	c.4268A>T	p.Q1423L	Substitution - Missense	Soft_tissue
COSM5974809	c.1479A>G	p.S493S	Substitution - coding silent	Upper_aerodigestive_tract
COSM76388	c.3467G>T	p.G1156V	Substitution - Missense	Ovary
COSM1664112	c.2141G>A	p.W714*	Substitution - Nonsense	Kidney
COSM1720389	c.5204C>T	p.S1735F	Substitution - Missense	Prostate
COSM4117995	c.4971G>A	p.P1657P	Substitution - coding silent	Large_intestine
COSM5708766	c.4006G>T	p.E1336*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5986189	c.1105C>G	p.Q369E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4454408	c.3299A>G	p.H1100R	Substitution - Missense	Skin
COSM4605832	c.5587C>T	p.P1863S	Substitution - Missense	Upper_aerodigestive_tract
COSM1732207	c.376A>G	p.K126E	Substitution - Missense	Soft_tissue
COSM480136	c.5730-2A>T	p.?	Unknown	Kidney
COSM43397	c.3337G>A	p.D1113N	Substitution - Missense	Kidney
COSM30494	c.2659delT	p.S887fs*4	Deletion - Frameshift	Kidney
COSM4118023	c.110G>A	p.R37Q	Substitution - Missense	Stomach
COSM3594662	c.3680C>T	p.S1227F	Substitution - Missense	Skin
COSM5730827	c.6019C>T	p.R2007C	Substitution - Missense	Breast
COSM1581655	c.3488A>G	p.Y1163C	Substitution - Missense	Bone
COSM4725154	c.4362C>T	p.D1454D	Substitution - coding silent	Large_intestine
COSM5784131	c.448G>C	p.D150H	Substitution - Missense	Breast
COSM5945631	c.392C>G	p.P131R	Substitution - Missense	Central_nervous_system
COSM1692704	c.3976C>T	p.Q1326*	Substitution - Nonsense	Skin
COSM5730818	c.3445_3446insT	p.T1149fs*14	Insertion - Frameshift	Breast
COSM1045499	c.494C>T	p.P165L	Substitution - Missense	Endometrium
COSM1732207	c.376A>G	p.K126E	Substitution - Missense	Kidney
COSM1617684	c.1661A>T	p.D554V	Substitution - Missense	Liver
COSM1045437	c.4721G>A	p.R1574Q	Substitution - Missense	Central_nervous_system
COSM1692702	c.4775C>T	p.P1592L	Substitution - Missense	Skin
COSM4943010	c.3079T>A	p.S1027T	Substitution - Missense	Liver
COSM730711	c.3365G>A	p.R1122H	Substitution - Missense	Lung
COSM3358461	c.612_627del16	p.S205fs*54	Deletion - Frameshift	Kidney
COSM3594652	c.5629C>G	p.P1877A	Substitution - Missense	Skin
COSM480164	c.3075A>T	p.E1025D	Substitution - Missense	Kidney
COSM1045455	c.3619C>T	p.R1207C	Substitution - Missense	Endometrium
COSM5595298	c.4720C>T	p.R1574*	Substitution - Nonsense	Skin
COSM1732106	c.1795G>T	p.E599*	Substitution - Nonsense	Kidney
COSM5708772	c.757C>A	p.H253N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM284918	c.1191C>T	p.C397C	Substitution - coding silent	Large_intestine
COSM5954373	c.2962C>T	p.H988Y	Substitution - Missense	Upper_aerodigestive_tract
COSM1732108	c.229G>T	p.E77*	Substitution - Nonsense	Kidney
COSM4798810	c.1017A>G	p.T339T	Substitution - coding silent	Liver
COSM263604	c.2653G>T	p.D885Y	Substitution - Missense	Large_intestine
COSM1045483	c.2217G>T	p.E739D	Substitution - Missense	Endometrium
COSM1423515	c.5522T>C	p.V1841A	Substitution - Missense	Large_intestine
COSM480156	c.3411G>T	p.W1137C	Substitution - Missense	Kidney
COSM5902661	c.6070C>T	p.P2024S	Substitution - Missense	Skin
COSM1045425	c.5877C>A	p.T1959T	Substitution - coding silent	Endometrium
COSM4963995	c.891C>T	p.S297S	Substitution - coding silent	Pancreas
COSM480152	c.3487T>C	p.Y1163H	Substitution - Missense	Kidney
COSM3993109	c.5896A>T	p.K1966*	Substitution - Nonsense	Kidney
COSM5413444	c.2809C>T	p.P937S	Substitution - Missense	Skin
COSM480162	c.3364C>T	p.R1122C	Substitution - Missense	Kidney
COSM1423580	c.815T>G	p.V272G	Substitution - Missense	Skin
COSM3993109	c.5896A>T	p.K1966*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5730605	c.3909_3920del12	p.L1304_P1307delLPIP	Deletion - In frame	Breast
COSM40895	c.2992T>G	p.C998G	Substitution - Missense	Central_nervous_system
COSM480160	c.3371T>G	p.M1124R	Substitution - Missense	Kidney
COSM1045503	c.327T>C	p.A109A	Substitution - coding silent	Endometrium
COSM3594683	c.766A>G	p.K256E	Substitution - Missense	Skin
COSM5495587	c.3506+1delG	p.?	Unknown	Biliary_tract
COSM4410607	c.3457_3458insGAAG	p.V1153fs*11	Insertion - Frameshift	Kidney
COSM5075569	c.5489G>A	p.G1830E	Substitution - Missense	Kidney
COSM1045501	c.406G>A	p.E136K	Substitution - Missense	Endometrium
COSM3365356	c.3206+1G>T	p.?	Unknown	Kidney
COSM480172	c.2455C>T	p.R819*	Substitution - Nonsense	Kidney
COSM3824009	c.935C>A	p.S312*	Substitution - Nonsense	Breast
COSM4117993	c.5242G>C	p.D1748H	Substitution - Missense	Stomach
COSM1423513	c.5847G>A	p.S1949S	Substitution - coding silent	Large_intestine
COSM4410992	c.3446C>T	p.T1149I	Substitution - Missense	Kidney
COSM76386	c.3587C>T	p.A1196V	Substitution - Missense	Ovary
COSM4963830	c.5476C>T	p.Q1826*	Substitution - Nonsense	Pancreas
COSM4185855	c.3275A>T	p.E1092V	Substitution - Missense	Kidney
COSM4754413	c.4104C>A	p.D1368E	Substitution - Missense	Stomach
COSM1581661	c.774G>A	p.M258I	Substitution - Missense	Liver
COSM5708770	c.2908T>C	p.F970L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5730822	c.6009A>C	p.K2003N	Substitution - Missense	Breast
COSM480158	c.3409T>A	p.W1137R	Substitution - Missense	Kidney
COSM5423526	c.5158delG	p.V1720fs*25	Deletion - Frameshift	Prostate
COSM3670330	c.349C>T	p.R117*	Substitution - Nonsense	Prostate
COSM5817891	c.3211A>T	p.T1071S	Substitution - Missense	Liver
COSM5968486	c.4980C>A	p.P1660P	Substitution - coding silent	Genital_tract
COSM5731031	c.4496_4497delCA	p.T1499fs*5	Deletion - Frameshift	Breast
COSM5967162	c.5429C>G	p.S1810*	Substitution - Nonsense	Salivary_gland
COSM1423511	c.5879C>A	p.S1960Y	Substitution - Missense	Large_intestine
COSM308487	c.3769_3777delAACACACAC	p.N1257_H1259delNTH	Deletion - In frame	Kidney
COSM2150737	c.6115G>A	p.E2039K	Substitution - Missense	Central_nervous_system
COSM1423580	c.815T>G	p.V272G	Substitution - Missense	Skin
COSM3728298	c.5989_5991delACC	p.T1999delT	Deletion - In frame	Haematopoietic_and_lymphoid_tissue
COSM5574965	c.2409G>A	p.W803*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1617680	c.2908T>G	p.F970V	Substitution - Missense	Liver
COSM5731044	c.3625_3627delAAG	p.K1209delK	Deletion - In frame	Breast
COSM1045453	c.3769-1G>T	p.?	Unknown	Endometrium
COSM5730603	c.3512_3514delAAG	p.E1171delE	Deletion - In frame	Breast
COSM345527	c.5621A>G	p.D1874G	Substitution - Missense	Lung
COSM4185740	c.3158_3161delTCAC	p.L1053fs*8	Deletion - Frameshift	Kidney
COSM5945676	c.1618G>A	p.E540K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5756290	c.2810delC	p.P937fs*43	Deletion - Frameshift	Large_intestine
COSM3068880	c.5318A>G	p.N1773S	Substitution - Missense	Large_intestine
COSM4963995	c.891C>T	p.S297S	Substitution - coding silent	Pancreas
COSM149376	c.4376C>T	p.P1459L	Substitution - Missense	Soft_tissue
COSM3392432	c.5584C>T	p.Q1862*	Substitution - Nonsense	Pancreas
COSM1045453	c.3769-1G>T	p.?	Unknown	Large_intestine
COSM1732035	c.4833delT	p.N1611fs*33	Deletion - Frameshift	Kidney
COSM247263	c.5037T>C	p.P1679P	Substitution - coding silent	Prostate
COSM1753235	c.2999C>T	p.P1000L	Substitution - Missense	Urinary_tract
COSM3068850	c.5634delC	p.S1879fs*29	Deletion - Frameshift	Stomach
COSM5751626	c.80_81insG	p.C27fs*6	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3365344	c.5320C>T	p.Q1774*	Substitution - Nonsense	Kidney
COSM5731033	c.1947_1950delAATA	p.D651fs*22	Deletion - Frameshift	Breast
COSM149376	c.4376C>T	p.P1459L	Substitution - Missense	Prostate
COSM1732205	c.5177T>G	p.V1726G	Substitution - Missense	Kidney
COSM30493	c.3545G>T	p.C1182F	Substitution - Missense	Kidney
COSM1726901	c.470A>G	p.N157S	Substitution - Missense	Liver
COSM1731290	c.4090G>T	p.E1364*	Substitution - Nonsense	Liver
COSM4002711	c.1731G>T	p.M577I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4410607	c.3457_3458insGAAG	p.V1153fs*11	Insertion - Frameshift	Kidney
COSM1225363	c.4055T>C	p.L1352P	Substitution - Missense	Large_intestine
COSM5731038	c.4703_4707delATAAA	p.N1568fs*17	Deletion - Frameshift	Breast
COSM30369	c.2965C>T	p.R989*	Substitution - Nonsense	Breast
COSM169530	c.4817G>A	p.R1606Q	Substitution - Missense	Endometrium
COSM3974434	c.5365C>T	p.Q1789*	Substitution - Nonsense	Central_nervous_system
COSM5752163	c.2107_2110delTCTT	p.S703fs*29	Deletion - Frameshift	Breast
COSM5945677	c.3646_3646delC	p.L1216fs*1	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1642284	c.1240delA	p.S414fs*5	Deletion - Frameshift	Stomach
COSM4118007	c.3266G>A	p.R1089Q	Substitution - Missense	Stomach
COSM3993111	c.3795G>T	p.K1265N	Substitution - Missense	Kidney
COSM1158242	c.4338_4340delACC	p.P1447delP	Deletion - In frame	Pancreas
COSM1045473	c.2923G>T	p.E975*	Substitution - Nonsense	Endometrium
COSM1131424	c.1184T>G	p.L395W	Substitution - Missense	Prostate
COSM3974438	c.3178G>C	p.G1060R	Substitution - Missense	Central_nervous_system
COSM4186746	c.2946-2A>G	p.?	Unknown	Kidney
COSM1161991	c.5923-2A>T	p.?	Unknown	Kidney
COSM1617680	c.2908T>G	p.F970V	Substitution - Missense	Liver
COSM5730820	c.5687delG	p.R1896fs*12	Deletion - Frameshift	Breast
COSM149376	c.4376C>T	p.P1459L	Substitution - Missense	Soft_tissue
COSM1495566	c.820G>T	p.E274*	Substitution - Nonsense	Kidney
COSM1636931	c.3265C>T	p.R1089*	Substitution - Nonsense	Liver
COSM4483610	c.1208C>T	p.P403L	Substitution - Missense	Skin
COSM3365352	c.3489T>G	p.Y1163*	Substitution - Nonsense	Kidney
COSM5986185	c.1557C>A	p.D519E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM730711	c.3365G>A	p.R1122H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3068832	c.5850A>C	p.K1950N	Substitution - Missense	Large_intestine
COSM1581663	c.770T>C	p.L257P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5399472	c.4077C>A	p.T1359T	Substitution - coding silent	Skin
COSM480138	c.4862T>A	p.L1621*	Substitution - Nonsense	Kidney
COSM3670330	c.349C>T	p.R117*	Substitution - Nonsense	Skin
COSM1731292	c.4001T>A	p.L1334*	Substitution - Nonsense	Liver
COSM1581659	c.1147C>G	p.L383V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5986193	c.334C>A	p.P112T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM149376	c.4376C>T	p.P1459L	Substitution - Missense	Prostate
COSM4852973	c.2243C>T	p.S748L	Substitution - Missense	Cervix
COSM5818939	c.4998A>T	p.P1666P	Substitution - coding silent	Liver
COSM306845	c.5629_5635CCCCCCT>CCCCCCCT	p.P1877fs	Complex	Central_nervous_system
COSM5986187	c.1136C>G	p.S379C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1636931	c.3265C>T	p.R1089*	Substitution - Nonsense	Liver
COSM4135360	c.2670A>C	p.L890F	Substitution - Missense	Pancreas
COSM3358463	c.274_275delTC	p.S92fs*3	Deletion - Frameshift	Kidney
COSM136343	c.4172C>T	p.S1391F	Substitution - Missense	Skin
COSM3069037	c.2710delA	p.R904fs*5	Deletion - Frameshift	Large_intestine
COSM343032	c.4736C>T	p.S1579L	Substitution - Missense	Lung
COSM43393	c.4885_4885delC	p.R1629fs*15	Deletion - Frameshift	Kidney
COSM5016000	c.399delT	p.F133fs*6	Deletion - Frameshift	Kidney
COSM4989871	c.?	p.L1022R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM419984	c.3376C>T	p.H1126Y	Substitution - Missense	Kidney
COSM1617678	c.3377A>G	p.H1126R	Substitution - Missense	Liver
COSM1753235	c.2999C>T	p.P1000L	Substitution - Missense	Urinary_tract
COSM1161941	c.2900C>T	p.P967L	Substitution - Missense	Kidney
COSM5075571	c.6020G>T	p.R2007L	Substitution - Missense	Kidney
COSM4172323	c.6109A>C	p.T2037P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3068850	c.5634delC	p.S1879fs*29	Deletion - Frameshift	Large_intestine
COSM4963830	c.5476C>T	p.Q1826*	Substitution - Nonsense	Central_nervous_system
COSM5986596	c.1392_1393insAAGC	p.S465fs*6	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM3673980	c.2711G>T	p.R904M	Substitution - Missense	Prostate
COSM4989872	c.?	p.N754Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5427586	c.4492A>T	p.K1498*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1737412	c.625A>T	p.K209*	Substitution - Nonsense	Central_nervous_system
COSM4918557	c.5394A>G	p.T1798T	Substitution - coding silent	Liver
COSM4434674	c.1340G>A	p.R447H	Substitution - Missense	Oesophagus
COSM3358449	c.5815_5816insC	p.T1940fs*3	Insertion - Frameshift	Kidney
COSM30364	c.92_122del31	p.P31fs*35	Deletion - Frameshift	Kidney
COSM5354982	c.4771delA	p.R1591fs*53	Deletion - Frameshift	Large_intestine
COSM5075567	c.2099C>T	p.P700L	Substitution - Missense	Kidney
COSM480162	c.3364C>T	p.R1122C	Substitution - Missense	Upper_aerodigestive_tract
COSM4442502	c.2300C>T	p.T767M	Substitution - Missense	Large_intestine
COSM3408707	c.3812A>G	p.H1271R	Substitution - Missense	Central_nervous_system
COSM1659581	c.5357C>G	p.A1786G	Substitution - Missense	Kidney
COSM5736592	c.4994C>A	p.P1665Q	Substitution - Missense	Small_intestine
COSM1485237	c.6032_6033insA	p.H2011fs*6	Insertion - Frameshift	Breast
COSM228923	c.4859A>G	p.K1620R	Substitution - Missense	Skin
COSM30420	c.2028C>T	p.D676D	Substitution - coding silent	Skin
COSM4431373	c.3955C>T	p.P1319S	Substitution - Missense	Oesophagus
COSM5624513	c.4855C>T	p.R1619W	Substitution - Missense	Oesophagus
COSM149376	c.4376C>T	p.P1459L	Substitution - Missense	Soft_tissue
COSM4485026	c.1376C>T	p.A459V	Substitution - Missense	Skin
COSM5015996	c.3444_3445insT	p.T1149fs*14	Insertion - Frameshift	Kidney
COSM1732131	c.3378C>A	p.H1126Q	Substitution - Missense	Kidney
COSM392804	c.1951_1954delGATA	p.D651fs*22	Deletion - Frameshift	Lung
COSM1225360	c.23C>A	p.S8Y	Substitution - Missense	Large_intestine
COSM4118005	c.3506+2T>C	p.?	Unknown	Stomach
COSM5487638	c.4538G>A	p.W1513*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4797379	c.5729+1G>A	p.?	Unknown	Liver
COSM1225358	c.1836A>C	p.E612D	Substitution - Missense	Large_intestine
COSM480162	c.3364C>T	p.R1122C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4988918	c.851A>C	p.K284T	Substitution - Missense	Soft_tissue
COSM4410977	c.126T>A	p.Y42*	Substitution - Nonsense	Kidney
COSM5463268	c.2387A>G	p.Y796C	Substitution - Missense	Large_intestine
COSM5708774	c.514G>C	p.G172R	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1659347	c.1311delA	p.K438fs*41	Deletion - Frameshift	Kidney
COSM1045481	c.2668T>G	p.L890V	Substitution - Missense	Endometrium
COSM5006579	c.?	p.S63T	Substitution - Missense	Kidney
COSM4628213	c.5461G>A	p.A1821T	Substitution - Missense	Large_intestine
COSM1423552	c.3244G>A	p.D1082N	Substitution - Missense	Large_intestine
COSM30369	c.2965C>T	p.R989*	Substitution - Nonsense	Kidney
COSM4507324	c.5927C>T	p.S1976F	Substitution - Missense	Skin
COSM5006580	c.?_?del?	p.?fs	Deletion - Frameshift	Kidney
COSM5945747	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1045449	c.3968G>A	p.R1323H	Substitution - Missense	Endometrium
COSM1186267	c.3937G>T	p.E1313*	Substitution - Nonsense	Lung
COSM43407	c.2637T>C	p.A879A	Substitution - coding silent	Kidney
COSM5575907	c.3323A>G	p.N1108S	Substitution - Missense	Stomach
COSM5986592	c.3207-3_3207-2insACCCC	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1726829	c.3076T>C	p.C1026R	Substitution - Missense	Liver
COSM4606549	c.3093_3120del28	p.N1032fs*21	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM4172327	c.659A>T	p.N220I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1309195	c.2246C>T	p.S749L	Substitution - Missense	Urinary_tract
COSM3358447	c.6108_6114delAACCAAG	p.T2037fs*22	Deletion - Frameshift	Kidney
COSM4963830	c.5476C>T	p.Q1826*	Substitution - Nonsense	Pancreas
COSM5807544	c.3412A>T	p.T1138S	Substitution - Missense	Liver
COSM1664108	c.5987T>G	p.I1996S	Substitution - Missense	Kidney
COSM1045449	c.3968G>A	p.R1323H	Substitution - Missense	Endometrium
COSM5986181	c.1975C>T	p.H659Y	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5474614	c.2490T>C	p.D830D	Substitution - coding silent	Large_intestine
COSM5945678	c.1342A>G	p.N448D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5348218	c.5048delA	p.K1683fs*62	Deletion - Frameshift	Liver
COSM43461	c.5842-?_6186+?del?	p.?	Unknown	Kidney
COSM149378	c.1731G>A	p.M577I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5507272	c.4085G>T	p.S1362I	Substitution - Missense	Biliary_tract
COSM1485249	c.3017G>C	p.R1006T	Substitution - Missense	Breast
COSM1045421	c.6058T>C	p.Y2020H	Substitution - Missense	Endometrium
COSM350878	c.5509C>T	p.H1837Y	Substitution - Missense	Lung
COSM4152463	c.3038G>A	p.C1013Y	Substitution - Missense	Kidney
COSM5686145	c.1259A>T	p.H420L	Substitution - Missense	Soft_tissue
COSM3380602	c.1861G>T	p.A621S	Substitution - Missense	Pancreas
COSM3408705	c.4856G>A	p.R1619Q	Substitution - Missense	Central_nervous_system
COSM5075570	c.3305A>G	p.Y1102C	Substitution - Missense	Breast
COSM4442502	c.2300C>T	p.T767M	Substitution - Missense	Large_intestine
COSM1580323	c.2866C>T	p.R956*	Substitution - Nonsense	Central_nervous_system
COSM1617674	c.3809G>T	p.R1270L	Substitution - Missense	Liver
COSM4793228	c.4477C>T	p.Q1493*	Substitution - Nonsense	Liver
COSM5730603	c.3512_3514delAAG	p.E1171delE	Deletion - In frame	Breast
COSM5075568	c.2150C>T	p.T717I	Substitution - Missense	Kidney
COSM5752645	c.2660C>G	p.S887*	Substitution - Nonsense	Breast
COSM5015998	c.1842delT	p.F614fs*4	Deletion - Frameshift	Kidney
COSM249465	c.3409-2A>G	p.?	Unknown	Kidney
COSM4980670	c.3655C>G	p.L1219V	Substitution - Missense	Oesophagus
COSM5986175	c.6019C>G	p.R2007G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3373201	c.1905G>C	p.E635D	Substitution - Missense	Thyroid
COSM5006580	c.?_?del?	p.?fs	Deletion - Frameshift	Kidney
COSM5221050	c.5095C>T	p.P1699S	Substitution - Missense	Skin
COSM5615287	c.2726_2729delAGAG	p.E909fs*19	Deletion - Frameshift	Breast
COSM4794860	c.5922+1G>A	p.?	Unknown	Liver
COSM419988	c.4462G>T	p.E1488*	Substitution - Nonsense	Urinary_tract
COSM1045507	c.60A>C	p.E20D	Substitution - Missense	Endometrium
COSM5347590	c.5172_5178delACATGTG	p.H1725fs*18	Deletion - Frameshift	Liver
COSM3594681	c.1141C>T	p.Q381*	Substitution - Nonsense	Skin
COSM480176	c.1531G>T	p.G511C	Substitution - Missense	Kidney
COSM1045459	c.3321G>T	p.K1107N	Substitution - Missense	Endometrium
COSM1660293	c.3485A>T	p.D1162V	Substitution - Missense	Kidney
COSM3069057	c.2301G>A	p.T767T	Substitution - coding silent	Large_intestine
COSM5945631	c.392C>G	p.P131R	Substitution - Missense	Central_nervous_system
COSM1161941	c.2900C>T	p.P967L	Substitution - Missense	Kidney
COSM3823999	c.4562G>A	p.R1521Q	Substitution - Missense	Breast
COSM4989870	c.?	p.D894G	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1162051	c.3456_3457insGAAG	p.V1153fs*11	Insertion - Frameshift	Kidney
COSM3669152	c.411T>C	p.F137F	Substitution - coding silent	Liver
COSM4118021	c.345A>G	p.S115S	Substitution - coding silent	Stomach
COSM4390886	c.4846G>A	p.E1616K	Substitution - Missense	Breast
COSM730723	c.5599G>T	p.V1867F	Substitution - Missense	Lung
COSM5487220	c.4187_4188insC	p.E1396fs*12	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5731036	c.5904delA	p.E1969fs*15	Deletion - Frameshift	Breast
COSM1045451	c.3809G>A	p.R1270H	Substitution - Missense	Endometrium
COSM730719	c.4537T>C	p.W1513R	Substitution - Missense	Lung
COSM3594658	c.4426C>T	p.P1476S	Substitution - Missense	Skin
COSM1186267	c.3937G>T	p.E1313*	Substitution - Nonsense	Breast
COSM4118019	c.1190G>A	p.C397Y	Substitution - Missense	Stomach
COSM43407	c.2637T>C	p.A879A	Substitution - coding silent	Kidney
COSM1732093	c.819delA	p.E274fs*21	Deletion - Frameshift	Kidney
COSM3365348	c.4473G>C	p.R1491S	Substitution - Missense	Kidney
COSM1633196	c.5736T>G	p.T1912T	Substitution - coding silent	Liver
COSM5986191	c.863C>T	p.S288L	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1692708	c.3178G>A	p.G1060S	Substitution - Missense	Skin
COSM1495568	c.3112A>C	p.N1038H	Substitution - Missense	Kidney
COSM1161991	c.5923-2A>T	p.?	Unknown	Kidney
COSM480172	c.2455C>T	p.R819*	Substitution - Nonsense	Skin
COSM1732179	c.2365C>T	p.Q789*	Substitution - Nonsense	Kidney
COSM446611	c.5616C>T	p.L1872L	Substitution - coding silent	Breast
COSM5015992	c.4979_4980delCC	p.P1660fs*20	Deletion - Frameshift	Kidney
COSM3670094	c.1244_1245delCA	p.S415fs*1	Deletion - Frameshift	Central_nervous_system
COSM4949663	c.6049_6050insAGGA	p.L2018fs*6	Insertion - Frameshift	Liver
COSM4584404	c.1470T>G	p.S490S	Substitution - coding silent	Bone
COSM288694	c.1768A>C	p.S590R	Substitution - Missense	Large_intestine
COSM3365354	c.3335T>C	p.I1112T	Substitution - Missense	Kidney
COSM5075571	c.6020G>T	p.R2007L	Substitution - Missense	Kidney
COSM1495575	c.4704T>A	p.N1568K	Substitution - Missense	Kidney
COSM120135	c.2026G>C	p.D676H	Substitution - Missense	Ovary
COSM79048	c.5019T>A	p.Y1673*	Substitution - Nonsense	Ovary
COSM249465	c.3409-2A>G	p.?	Unknown	Kidney
COSM446617	c.227A>G	p.N76S	Substitution - Missense	Breast
COSM4974377	c.2834C>T	p.S945F	Substitution - Missense	Oesophagus
COSM4641210	c.5063C>T	p.T1688I	Substitution - Missense	Large_intestine
COSM4940605	c.1175T>C	p.L392P	Substitution - Missense	Liver
COSM5600455	c.3866G>A	p.S1289N	Substitution - Missense	Skin
COSM1045501	c.406G>A	p.E136K	Substitution - Missense	Endometrium
COSM3068886	c.5194G>C	p.V1732L	Substitution - Missense	Skin
COSM5005633	c.4039_4040insGG	p.A1348fs*15	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM30385	c.4841delC	p.S1614fs*30	Deletion - Frameshift	Kidney
COSM306845	c.5629_5635CCCCCCT>CCCCCCCT	p.P1877fs	Complex	Central_nervous_system
COSM3696119	c.6115G>C	p.E2039Q	Substitution - Missense	Large_intestine
COSM4118003	c.3628G>T	p.D1210Y	Substitution - Missense	Stomach
COSM5986590	c.4662_4663insAT	p.N1555fs*90	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1581655	c.3488A>G	p.Y1163C	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5417181	c.716C>G	p.S239*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1045425	c.5877C>A	p.T1959T	Substitution - coding silent	Large_intestine
COSM5731029	c.3680_3681delCT	p.S1227fs*1	Deletion - Frameshift	Breast
COSM480154	c.3440T>C	p.F1147S	Substitution - Missense	Kidney
COSM377624	c.2281C>G	p.Q761E	Substitution - Missense	Lung
COSM4403215	c.2306A>C	p.Q769P	Substitution - Missense	Skin
COSM4969186	c.6026T>C	p.L2009P	Substitution - Missense	Central_nervous_system
COSM30369	c.2965C>T	p.R989*	Substitution - Nonsense	Skin
COSM4725162	c.522T>C	p.P174P	Substitution - coding silent	Large_intestine
COSM5736590	c.5869G>A	p.A1957T	Substitution - Missense	Small_intestine
COSM1495573	c.3420C>T	p.N1140N	Substitution - coding silent	Kidney
COSM4991927	c.4237C>T	p.P1413S	Substitution - Missense	Skin
COSM3726206	c.1006A>T	p.R336*	Substitution - Nonsense	Lung
COSM1633198	c.4849G>T	p.E1617*	Substitution - Nonsense	Liver
COSM1664114	c.1478C>G	p.S493*	Substitution - Nonsense	Kidney
COSM1045439	c.4562G>C	p.R1521P	Substitution - Missense	Endometrium
COSM1732175	c.2420C>A	p.S807*	Substitution - Nonsense	Kidney
COSM3673978	c.4280C>A	p.P1427Q	Substitution - Missense	Prostate
COSM5024956	c.2085G>T	p.Q695H	Substitution - Missense	Breast
COSM1617684	c.1661A>T	p.D554V	Substitution - Missense	Liver
COSM5551859	c.5311G>A	p.D1771N	Substitution - Missense	Prostate
COSM5715695	c.5092G>C	p.A1698P	Substitution - Missense	Skin
COSM5571025	c.5600T>C	p.V1867A	Substitution - Missense	Prostate
COSM308469	c.5551A>G	p.T1851A	Substitution - Missense	Kidney
COSM1045489	c.1598A>C	p.E533A	Substitution - Missense	Endometrium
COSM5457615	c.399T>A	p.F133L	Substitution - Missense	Large_intestine
COSM480166	c.2945+1G>C	p.?	Unknown	Kidney
COSM446613	c.3495C>G	p.F1165L	Substitution - Missense	Breast
COSM3594679	c.2108C>T	p.S703F	Substitution - Missense	Skin
COSM4989869	c.?	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM3594685	c.760C>T	p.Q254*	Substitution - Nonsense	Skin
COSM5726632	c.4762G>A	p.G1588R	Substitution - Missense	Skin
COSM4506234	c.5636C>T	p.S1879F	Substitution - Missense	Skin
COSM5994787	c.1566T>G	p.G522G	Substitution - coding silent	Prostate
COSM1664110	c.3340G>C	p.A1114P	Substitution - Missense	Kidney
COSM5751675	c.1030_1031insC	p.F344fs*4	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM730713	c.3464C>T	p.S1155L	Substitution - Missense	Lung
COSM4725160	c.1757G>A	p.R586Q	Substitution - Missense	Large_intestine
COSM377622	c.5737C>G	p.Q1913E	Substitution - Missense	Lung
COSM5075570	c.3305A>G	p.Y1102C	Substitution - Missense	Kidney
COSM1617674	c.3809G>T	p.R1270L	Substitution - Missense	Liver
COSM1636929	c.3446C>A	p.T1149N	Substitution - Missense	Bone
COSM1732125	c.4784+1G>C	p.?	Unknown	Kidney
COSM30367	c.5540_5555del16	p.A1847fs*17	Deletion - Frameshift	Kidney
COSM1162138	c.2986T>C	p.C996R	Substitution - Missense	Kidney
COSM5355158	c.5946C>A	p.C1982*	Substitution - Nonsense	Large_intestine
COSM215911	c.5628_5629insC	p.S1879fs*47	Insertion - Frameshift	Central_nervous_system
COSM4152449	c.6029C>T	p.T2010I	Substitution - Missense	Kidney
COSM1045467	c.3170A>G	p.K1057R	Substitution - Missense	Endometrium
COSM3594687	c.237C>T	p.I79I	Substitution - coding silent	Skin
COSM4797379	c.5729+1G>A	p.?	Unknown	Liver
COSM1423570	c.2062A>C	p.K688Q	Substitution - Missense	Large_intestine
COSM149376	c.4376C>T	p.P1459L	Substitution - Missense	Soft_tissue
COSM345531	c.584C>T	p.S195F	Substitution - Missense	Lung
COSM1617682	c.2801C>G	p.S934*	Substitution - Nonsense	Liver
COSM1732072	c.3904G>T	p.E1302*	Substitution - Nonsense	Kidney
COSM4745763	c.2562_2563ins17	p.L855fs*21	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM305419	c.5462C>T	p.A1821V	Substitution - Missense	Soft_tissue
COSM5600455	c.3866G>A	p.S1289N	Substitution - Missense	Skin
COSM480184	c.119C>A	p.S40*	Substitution - Nonsense	Kidney
COSM1495564	c.170C>A	p.S57*	Substitution - Nonsense	Kidney
COSM4410977	c.126T>A	p.Y42*	Substitution - Nonsense	Kidney
COSM5978621	c.5273C>T	p.A1758V	Substitution - Missense	Upper_aerodigestive_tract
COSM164281	c.1981C>T	p.Q661*	Substitution - Nonsense	Breast
COSM2157022	c.3330+2T>C	p.?	Unknown	Central_nervous_system
COSM4502194	c.4567C>T	p.P1523S	Substitution - Missense	Skin
COSM4394671	c.3247C>T	p.H1083Y	Substitution - Missense	Skin
COSM43395	c.2267G>T	p.G756V	Substitution - Missense	Kidney
COSM4410992	c.3446C>T	p.T1149I	Substitution - Missense	Kidney
COSM1045505	c.77G>T	p.R26I	Substitution - Missense	Endometrium
COSM5779748	c.2898G>A	p.M966I	Substitution - Missense	Breast
COSM3594654	c.5239C>T	p.Q1747*	Substitution - Nonsense	Skin
COSM4172325	c.4550delA	p.K1517fs*127	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM1423519	c.4561C>T	p.R1521*	Substitution - Nonsense	Large_intestine
COSM3670330	c.349C>T	p.R117*	Substitution - Nonsense	Breast
COSM4135362	c.1051C>T	p.Q351*	Substitution - Nonsense	Pancreas
COSM4794860	c.5922+1G>A	p.?	Unknown	Liver
COSM4117995	c.4971G>A	p.P1657P	Substitution - coding silent	Large_intestine
COSM4963830	c.5476C>T	p.Q1826*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM149378	c.1731G>A	p.M577I	Substitution - Missense	Soft_tissue
COSM1633200	c.4017G>C	p.G1339G	Substitution - coding silent	Liver
COSM149376	c.4376C>T	p.P1459L	Substitution - Missense	Prostate
COSM1186269	c.3936G>T	p.L1312F	Substitution - Missense	Lung
COSM5946719	c.5507C>T	p.A1836V	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4856272	c.1111A>G	p.I371V	Substitution - Missense	Cervix
COSM5967163	c.2744_2745insT	p.G916fs*2	Insertion - Frameshift	Salivary_gland
COSM5730829	c.3524G>A	p.C1175Y	Substitution - Missense	Breast
COSM4767752	c.112C>T	p.R38*	Substitution - Nonsense	Biliary_tract
COSM164279	c.5686C>T	p.R1896*	Substitution - Nonsense	Skin
COSM5416085	c.2367delG	p.Q789fs*40	Deletion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM5708778	c.460A>T	p.K154*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM5344489	c.4064C>G	p.P1355R	Substitution - Missense	Large_intestine
COSM5687942	c.787A>C	p.M263L	Substitution - Missense	Soft_tissue
COSM5487220	c.4187_4188insC	p.E1396fs*12	Insertion - Frameshift	Haematopoietic_and_lymphoid_tissue
COSM2150737	c.6115G>A	p.E2039K	Substitution - Missense	Central_nervous_system
COSM3358455	c.4472_4481del10	p.R1491fs*9	Deletion - Frameshift	Kidney
COSM30360	c.5341C>T	p.Q1781*	Substitution - Nonsense	Kidney
COSM3069065	c.2183G>A	p.G728E	Substitution - Missense	Haematopoietic_and_lymphoid_tissue

> Text Mining based Variations [ TOP ]
There is no record for SETD2.

Summary
Symbol	SETD2
Name	SET domain containing 2
Aliases	HYPB; HIF-1; KIAA1732; FLJ23184; KMT3A; HBP231; HSPC069; SET2; p231HBP; huntingtin yeast partner B; huntingt ......
Location	3p21.31
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)

[ TOP ]

Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
Q9BYW2	321	S	Phosphoserine	-	No	None detected
Q9BYW2	323	S	Phosphoserine	-	No	None detected
Q9BYW2	344	S	Phosphoserine	-	No	None detected
Q9BYW2	422	S	Phosphoserine	-	No	None detected
Q9BYW2	532	S	Phosphoserine	-	No	None detected
Q9BYW2	614	S	Phosphoserine	-	No	None detected
Q9BYW2	624	S	Phosphoserine	-	No	None detected
Q9BYW2	626	T	Phosphothreonine	-	No	None detected
Q9BYW2	698	S	Phosphoserine	-	No	None detected
Q9BYW2	708	S	Phosphoserine	-	No	None detected
Q9BYW2	744	S	Phosphoserine	-	No	None detected
Q9BYW2	754	S	Phosphoserine	-	No	None detected
Q9BYW2	1098	S	Phosphoserine	-	No	None detected
Q9BYW2	1228	S	Phosphoserine	-	No	None detected
Q9BYW2	1413	S	Phosphoserine	-	No	None detected
Q9BYW2	1415	S	Phosphoserine	-	No	None detected
Q9BYW2	1417	S	Phosphoserine	-	No	None detected
Q9BYW2	1696	S	Phosphoserine	-	No	None detected
Q9BYW2	1844	S	Phosphoserine	-	No	None detected
Q9BYW2	1845	S	Phosphoserine	-	No	None detected
Q9BYW2	1853	T	Phosphothreonine	-	No	None detected
Q9BYW2	1872	T	Phosphothreonine	-	No	None detected
Q9BYW2	1888	S	Phosphoserine	-	No	None detected
Q9BYW2	1952	S	Phosphoserine	-	No	None detected
Q9BYW2	1980	S	Phosphoserine	-	No	None detected
Q9BYW2	1988	S	Phosphoserine	-	No	None detected
Q9BYW2	1995	S	Phosphoserine	-	No	None detected
Q9BYW2	2080	S	Phosphoserine	-	No	None detected
Q9BYW2	2082	S	Phosphoserine	-	No	None detected

Summary
Symbol	SETD2
Name	SET domain containing 2
Aliases	HYPB; HIF-1; KIAA1732; FLJ23184; KMT3A; HBP231; HSPC069; SET2; p231HBP; huntingtin yeast partner B; huntingt ......
Location	3p21.31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Expression analysis in primary tumor tissue from TCGA > Expression level in cancer cell line from CCLE > Expression level in human normal tissue from HPA > Text mining based expression change

> The Cancer Genome Atlas (TCGA)

[ TOP ]

Differential expression analysis for cancers with more than 10 normal samples

Cancer	Full Name	# N	# T	Median (N)	Median (T)	LogFC	Adj. P	Status
BLCA	Bladder urothelial carcinoma	19	408	6.516	6.321	-0.187	0.187	NS
BRCA	Breast invasive carcinoma	112	1100	7.048	6.686	-0.324	1.4e-10	NS
CESC	Cervical and endocervical cancers	3	306	6.759	6.25	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	6.329	6.187	-0.239	0.00534	NS
ESCA	Esophageal carcinoma	11	185	7.12	6.768	-0.35	0.0457	NS
GBM	Glioblastoma multiforme	5	166	6.331	6.123	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	6.417	5.893	-0.443	7.38e-07	NS
KIRC	Kidney renal clear cell carcinoma	72	534	6.699	5.857	-0.793	7.83e-35	Under
KIRP	Kidney renal papillary cell carcinoma	32	291	6.558	6.297	-0.321	0.00189	NS
LAML	Acute Myeloid Leukemia	0	173	NA	7.92	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	6.544	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	5.622	5.514	-0.093	0.277	NS
LUAD	Lung adenocarcinoma	59	517	6.453	6.13	-0.248	0.000202	NS
LUSC	Lung squamous cell carcinoma	51	501	6.38	5.984	-0.413	2.45e-10	NS
OV	Ovarian serous cystadenocarcinoma	0	307	NA	6.319	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	6.485	6.328	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	6.211	5.854	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	6.728	6.589	-0.152	0.0298	NS
READ	Rectum adenocarcinoma	10	167	6.368	6.235	-0.193	0.353	NS
SARC	Sarcoma	2	263	5.996	6.311	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	6.226	6.159	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	6.596	6.69	0.033	0.749	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	6.845	NA	NA	NA
THCA	Thyroid carcinoma	59	509	6.998	6.644	-0.316	4.33e-10	NS
THYM	Thymoma	2	120	7.052	6.632	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	6.603	6.433	-0.215	0.00829	NS

> Cancer Cell Line Encyclopedia (CCLE)

[ TOP ]

Tissue	Cell Line	Expression Level (Microarray)
Autonomic ganglia	CHP126	7.8
Autonomic ganglia	CHP212	8
Autonomic ganglia	IMR32	8
Autonomic ganglia	KELLY	8.2
Autonomic ganglia	KPNRTBM1	8.5
Autonomic ganglia	KPNSI9S	7.4
Autonomic ganglia	KPNYN	8.3
Autonomic ganglia	MHHNB11	8.5
Autonomic ganglia	NB1	8.2
Autonomic ganglia	NH6	8
Autonomic ganglia	SHSY5Y	8.1
Autonomic ganglia	SIMA	8.2
Autonomic ganglia	SKNAS	6.5
Autonomic ganglia	SKNBE2	7.2
Autonomic ganglia	SKNDZ	7.4
Autonomic ganglia	SKNFI	7.5
Autonomic ganglia	SKNSH	8
Biliary tract	HUCCT1	7.5
Biliary tract	HUH28	7.9
Biliary tract	SNU1079	7.5
Biliary tract	SNU1196	7.8
Biliary tract	SNU245	7.7
Biliary tract	SNU308	7.7
Biliary tract	SNU478	7.6
Bone	143B	7.8
Bone	A673	6.7
Bone	CADOES1	7.7
Bone	CAL78	7.1
Bone	G292CLONEA141B1	7.7
Bone	HOS	8.1
Bone	HS706T	7.8
Bone	HS737T	7.3
Bone	HS819T	7.2
Bone	HS821T	7.2
Bone	HS822T	7.2
Bone	HS863T	7.3
Bone	HS870T	7.3
Bone	HS888T	7.7
Bone	MG63	7.3
Bone	MHHES1	8.2
Bone	OUMS27	8
Bone	RDES	7.6
Bone	SJSA1	7.4
Bone	SKES1	7.3
Bone	SKNMC	7.2
Bone	SW1353	7.8
Bone	T173	7.4
Bone	TC71	7.4
Bone	U2OS	7.6
Breast	AU565	7.2
Breast	BT20	7.5
Breast	BT474	7.8
Breast	BT483	7.8
Breast	BT549	7.2
Breast	CAL120	8.1
Breast	CAL148	8.1
Breast	CAL51	8.3
Breast	CAL851	6.3
Breast	CAMA1	7.3
Breast	DU4475	8.1
Breast	EFM192A	7.3
Breast	EFM19	8.1
Breast	EVSAT	7.1
Breast	HCC1143	7
Breast	HCC1187	7.8
Breast	HCC1395	7.8
Breast	HCC1419	7.6
Breast	HCC1428	7
Breast	HCC1500	6.9
Breast	HCC1569	6.9
Breast	HCC1599	7.6
Breast	HCC1806	7.7
Breast	HCC1937	7.6
Breast	HCC1954	7.7
Breast	HCC202	7.1
Breast	HCC2157	7.5
Breast	HCC2218	7.3
Breast	HCC38	7.8
Breast	HCC70	7.4
Breast	HDQP1	7.5
Breast	HMC18	7.7
Breast	HS274T	7
Breast	HS281T	7.5
Breast	HS343T	7.6
Breast	HS578T	7.3
Breast	HS606T	7.7
Breast	HS739T	7.8
Breast	HS742T	7.1
Breast	JIMT1	7.8
Breast	KPL1	7.4
Breast	MCF7	6.9
Breast	MDAMB134VI	7.6
Breast	MDAMB157	7.3
Breast	MDAMB175VII	7.7
Breast	MDAMB231	7.6
Breast	MDAMB361	7.1
Breast	MDAMB415	6.1
Breast	MDAMB436	7.5
Breast	MDAMB453	7.9
Breast	MDAMB468	6.9
Breast	SKBR3	7.2
Breast	T47D	7.6
Breast	UACC812	8.1
Breast	UACC893	6.7
Breast	YMB1	7.7
Breast	ZR751	7.3
Breast	ZR7530	8.2
Central nervous system	1321N1	8
Central nervous system	42MGBA	7.9
Central nervous system	8MGBA	7.3
Central nervous system	A172	7.6
Central nervous system	AM38	7.8
Central nervous system	BECKER	7.4
Central nervous system	CAS1	8.1
Central nervous system	CCFSTTG1	6.9
Central nervous system	D283MED	7.7
Central nervous system	D341MED	8
Central nervous system	DAOY	7.4
Central nervous system	DBTRG05MG	7.1
Central nervous system	DKMG	7.9
Central nervous system	GAMG	7.9
Central nervous system	GB1	8.5
Central nervous system	GI1	6.5
Central nervous system	GMS10	8.4
Central nervous system	GOS3	7.5
Central nervous system	H4	6.7
Central nervous system	HS683	7.4
Central nervous system	KALS1	8.1
Central nervous system	KG1C	7.3
Central nervous system	KNS42	7.2
Central nervous system	KNS60	7.7
Central nervous system	KNS81	8.1
Central nervous system	KS1	7.6
Central nervous system	LN18	7.8
Central nervous system	LN229	7.7
Central nervous system	M059K	7.5
Central nervous system	MOGGCCM	7.1
Central nervous system	MOGGUVW	7.4
Central nervous system	NMCG1	7.2
Central nervous system	ONS76	7
Central nervous system	SF126	7.6
Central nervous system	SF295	7.6
Central nervous system	SNB19	8.5
Central nervous system	SNU1105	7.8
Central nervous system	SNU201	8
Central nervous system	SNU466	7.4
Central nervous system	SNU489	7.6
Central nervous system	SNU626	7.3
Central nervous system	SNU738	7.9
Central nervous system	SW1088	7.6
Central nervous system	SW1783	7.8
Central nervous system	T98G	7.8
Central nervous system	TM31	8.5
Central nervous system	U118MG	7.7
Central nervous system	U138MG	8.1
Central nervous system	U251MG	7.6
Central nervous system	U87MG	7
Central nervous system	YH13	7.7
Central nervous system	YKG1	8.1
Endometrium	AN3CA	7
Endometrium	COLO684	7.1
Endometrium	EFE184	7.1
Endometrium	EN	8.3
Endometrium	ESS1	7.8
Endometrium	HEC108	8
Endometrium	HEC151	7.9
Endometrium	HEC1A	8.6
Endometrium	HEC1B	9
Endometrium	HEC251	8
Endometrium	HEC265	8.1
Endometrium	HEC50B	7.2
Endometrium	HEC59	7.7
Endometrium	HEC6	8.5
Endometrium	ISHIKAWAHERAKLIO02ER	8.1
Endometrium	JHUEM1	7.4
Endometrium	JHUEM2	8
Endometrium	JHUEM3	8
Endometrium	KLE	6.7
Endometrium	MFE280	8.2
Endometrium	MFE296	7.8
Endometrium	MFE319	7.1
Endometrium	RL952	7.5
Endometrium	SNGM	8.3
Endometrium	SNU1077	7.3
Endometrium	SNU685	7.7
Endometrium	TEN	7
Haematopoietic and lymphoid	697	8.4
Haematopoietic and lymphoid	A3KAW	7.7
Haematopoietic and lymphoid	A4FUK	7.5
Haematopoietic and lymphoid	ALLSIL	8.3
Haematopoietic and lymphoid	AML193	8.6
Haematopoietic and lymphoid	AMO1	7.8
Haematopoietic and lymphoid	BCP1	7.8
Haematopoietic and lymphoid	BDCM	8
Haematopoietic and lymphoid	BL41	8.9
Haematopoietic and lymphoid	BL70	8.8
Haematopoietic and lymphoid	BV173	8.5
Haematopoietic and lymphoid	CA46	8.4
Haematopoietic and lymphoid	CI1	8.1
Haematopoietic and lymphoid	CMK115	8.5
Haematopoietic and lymphoid	CMK86	8.1
Haematopoietic and lymphoid	CMK	8.1
Haematopoietic and lymphoid	CMLT1	8.1
Haematopoietic and lymphoid	COLO775	7.7
Haematopoietic and lymphoid	DAUDI	8.5
Haematopoietic and lymphoid	DB	7.6
Haematopoietic and lymphoid	DEL	7.6
Haematopoietic and lymphoid	DND41	7.8
Haematopoietic and lymphoid	DOHH2	8.5
Haematopoietic and lymphoid	EB1	8.3
Haematopoietic and lymphoid	EB2	8.7
Haematopoietic and lymphoid	EHEB	7.9
Haematopoietic and lymphoid	EJM	8.1
Haematopoietic and lymphoid	EM2	8.5
Haematopoietic and lymphoid	EOL1	7.9
Haematopoietic and lymphoid	F36P	7.2
Haematopoietic and lymphoid	GA10	8.3
Haematopoietic and lymphoid	GDM1	7.9
Haematopoietic and lymphoid	GRANTA519	7.3
Haematopoietic and lymphoid	HDLM2	8
Haematopoietic and lymphoid	HDMYZ	7.7
Haematopoietic and lymphoid	HEL9217	8.4
Haematopoietic and lymphoid	HEL	8.3
Haematopoietic and lymphoid	HH	7.7
Haematopoietic and lymphoid	HL60	8.6
Haematopoietic and lymphoid	HPBALL	7
Haematopoietic and lymphoid	HS604T	7
Haematopoietic and lymphoid	HS611T	8.4
Haematopoietic and lymphoid	HS616T	7.6
Haematopoietic and lymphoid	HS751T	7.4
Haematopoietic and lymphoid	HT	8.6
Haematopoietic and lymphoid	HTK	7.1
Haematopoietic and lymphoid	HUNS1	7.9
Haematopoietic and lymphoid	HUT102	7.8
Haematopoietic and lymphoid	HUT78	8.2
Haematopoietic and lymphoid	JEKO1	7.9
Haematopoietic and lymphoid	JK1	8.2
Haematopoietic and lymphoid	JM1	7.9
Haematopoietic and lymphoid	JURKAT	8.1
Haematopoietic and lymphoid	JURLMK1	7.8
Haematopoietic and lymphoid	JVM2	8
Haematopoietic and lymphoid	JVM3	8.5
Haematopoietic and lymphoid	K562	7.3
Haematopoietic and lymphoid	KARPAS299	7.8
Haematopoietic and lymphoid	KARPAS422	8.8
Haematopoietic and lymphoid	KARPAS620	8.1
Haematopoietic and lymphoid	KASUMI1	8.3
Haematopoietic and lymphoid	KASUMI2	8.1
Haematopoietic and lymphoid	KASUMI6	8.1
Haematopoietic and lymphoid	KCL22	8.1
Haematopoietic and lymphoid	KE37	8.2
Haematopoietic and lymphoid	KE97	7.8
Haematopoietic and lymphoid	KG1	8.3
Haematopoietic and lymphoid	KHM1B	7.8
Haematopoietic and lymphoid	KIJK	7.8
Haematopoietic and lymphoid	KMH2	7.4
Haematopoietic and lymphoid	KMM1	7.9
Haematopoietic and lymphoid	KMS11	7.5
Haematopoietic and lymphoid	KMS12BM	8.1
Haematopoietic and lymphoid	KMS18	8.3
Haematopoietic and lymphoid	KMS20	7.9
Haematopoietic and lymphoid	KMS21BM	7.6
Haematopoietic and lymphoid	KMS26	8
Haematopoietic and lymphoid	KMS27	7.7
Haematopoietic and lymphoid	KMS28BM	7.2
Haematopoietic and lymphoid	KMS34	7.7
Haematopoietic and lymphoid	KO52	8.6
Haematopoietic and lymphoid	KOPN8	7.7
Haematopoietic and lymphoid	KU812	8.3
Haematopoietic and lymphoid	KYO1	7.8
Haematopoietic and lymphoid	L1236	8.1
Haematopoietic and lymphoid	L363	8.9
Haematopoietic and lymphoid	L428	7.7
Haematopoietic and lymphoid	L540	7.8
Haematopoietic and lymphoid	LAMA84	8.2
Haematopoietic and lymphoid	LOUCY	8.3
Haematopoietic and lymphoid	LP1	7.5
Haematopoietic and lymphoid	M07E	8.6
Haematopoietic and lymphoid	MC116	8.1
Haematopoietic and lymphoid	ME1	7.3
Haematopoietic and lymphoid	MEC1	8.9
Haematopoietic and lymphoid	MEC2	8.3
Haematopoietic and lymphoid	MEG01	7.9
Haematopoietic and lymphoid	MHHCALL2	8.6
Haematopoietic and lymphoid	MHHCALL3	8.4
Haematopoietic and lymphoid	MHHCALL4	8.9
Haematopoietic and lymphoid	MINO	7.9
Haematopoietic and lymphoid	MJ	7.4
Haematopoietic and lymphoid	MM1S	7.6
Haematopoietic and lymphoid	MOLM13	7.4
Haematopoietic and lymphoid	MOLM16	8.1
Haematopoietic and lymphoid	MOLM6	7.8
Haematopoietic and lymphoid	MOLP2	7.4
Haematopoietic and lymphoid	MOLP8	7.7
Haematopoietic and lymphoid	MOLT13	8.7
Haematopoietic and lymphoid	MOLT16	8.1
Haematopoietic and lymphoid	MOLT4	7.8
Haematopoietic and lymphoid	MONOMAC1	7.9
Haematopoietic and lymphoid	MONOMAC6	8.5
Haematopoietic and lymphoid	MOTN1	8.2
Haematopoietic and lymphoid	MUTZ5	8.9
Haematopoietic and lymphoid	MV411	7.3
Haematopoietic and lymphoid	NALM19	8.3
Haematopoietic and lymphoid	NALM1	8.5
Haematopoietic and lymphoid	NALM6	8.5
Haematopoietic and lymphoid	NAMALWA	7.4
Haematopoietic and lymphoid	NB4	8
Haematopoietic and lymphoid	NCIH929	7.2
Haematopoietic and lymphoid	NCO2	8.4
Haematopoietic and lymphoid	NOMO1	8.2
Haematopoietic and lymphoid	NUDHL1	7.6
Haematopoietic and lymphoid	NUDUL1	8.6
Haematopoietic and lymphoid	OCIAML2	8.1
Haematopoietic and lymphoid	OCIAML3	7.9
Haematopoietic and lymphoid	OCIAML5	7.9
Haematopoietic and lymphoid	OCILY10	8.5
Haematopoietic and lymphoid	OCILY19	8.4
Haematopoietic and lymphoid	OCILY3	8.3
Haematopoietic and lymphoid	OCIM1	8.4
Haematopoietic and lymphoid	OPM2	7.8
Haematopoietic and lymphoid	P12ICHIKAWA	8.6
Haematopoietic and lymphoid	P31FUJ	8
Haematopoietic and lymphoid	P3HR1	8.6
Haematopoietic and lymphoid	PCM6	8.1
Haematopoietic and lymphoid	PEER	8.3
Haematopoietic and lymphoid	PF382	8.2
Haematopoietic and lymphoid	PFEIFFER	8.5
Haematopoietic and lymphoid	PL21	8.1
Haematopoietic and lymphoid	RAJI	8.6
Haematopoietic and lymphoid	RCHACV	8
Haematopoietic and lymphoid	REC1	8.1
Haematopoietic and lymphoid	REH	7.7
Haematopoietic and lymphoid	RI1	7.7
Haematopoietic and lymphoid	RL	8.3
Haematopoietic and lymphoid	RPMI8226	8.2
Haematopoietic and lymphoid	RPMI8402	8.7
Haematopoietic and lymphoid	RS411	8
Haematopoietic and lymphoid	SEM	8.7
Haematopoietic and lymphoid	SET2	8.4
Haematopoietic and lymphoid	SIGM5	8.3
Haematopoietic and lymphoid	SKM1	8.3
Haematopoietic and lymphoid	SKMM2	7.8
Haematopoietic and lymphoid	SR786	7.7
Haematopoietic and lymphoid	ST486	8.2
Haematopoietic and lymphoid	SUDHL10	8.2
Haematopoietic and lymphoid	SUDHL1	7.7
Haematopoietic and lymphoid	SUDHL4	8.1
Haematopoietic and lymphoid	SUDHL5	8.7
Haematopoietic and lymphoid	SUDHL6	8.8
Haematopoietic and lymphoid	SUDHL8	8.2
Haematopoietic and lymphoid	SUPB15	8.8
Haematopoietic and lymphoid	SUPHD1	7.5
Haematopoietic and lymphoid	SUPM2	7.3
Haematopoietic and lymphoid	SUPT11	8.4
Haematopoietic and lymphoid	SUPT1	8.5
Haematopoietic and lymphoid	TALL1	8.2
Haematopoietic and lymphoid	TF1	7.9
Haematopoietic and lymphoid	THP1	8.1
Haematopoietic and lymphoid	TO175T	7.6
Haematopoietic and lymphoid	TOLEDO	8.3
Haematopoietic and lymphoid	U266B1	7.9
Haematopoietic and lymphoid	U937	8.3
Haematopoietic and lymphoid	UT7	7.7
Haematopoietic and lymphoid	WSUDLCL2	8.7
Kidney	769P	6.7
Kidney	786O	7.3
Kidney	A498	6.9
Kidney	A704	6
Kidney	ACHN	7.3
Kidney	BFTC909	7.5
Kidney	CAKI1	7.5
Kidney	CAKI2	6.6
Kidney	CAL54	7.1
Kidney	KMRC1	6.6
Kidney	KMRC20	7.2
Kidney	KMRC2	6.6
Kidney	KMRC3	5.8
Kidney	OSRC2	7.1
Kidney	RCC10RGB	7.4
Kidney	SNU1272	6.9
Kidney	SNU349	4.9
Kidney	TUHR10TKB	7.1
Kidney	TUHR14TKB	7.8
Kidney	TUHR4TKB	6.5
Kidney	VMRCRCW	6.2
Kidney	VMRCRCZ	7.3
Large intestine	C2BBE1	7.5
Large intestine	CCK81	8.1
Large intestine	CL11	8
Large intestine	CL14	7.8
Large intestine	CL34	8.3
Large intestine	CL40	7.1
Large intestine	COLO205	7.3
Large intestine	COLO320	7.6
Large intestine	COLO678	7.6
Large intestine	CW2	7.5
Large intestine	DLD1	7.5
Large intestine	GP2D	8.1
Large intestine	HCC56	7.8
Large intestine	HCT116	7.6
Large intestine	HCT15	7.8
Large intestine	HS675T	7.1
Large intestine	HS698T	7.3
Large intestine	HT115	7.4
Large intestine	HT29	6.8
Large intestine	HT55	7.9
Large intestine	KM12	6.8
Large intestine	LOVO	8.1
Large intestine	LS1034	7.9
Large intestine	LS123	8.1
Large intestine	LS180	8
Large intestine	LS411N	8
Large intestine	LS513	7.4
Large intestine	MDST8	7.6
Large intestine	NCIH508	7.5
Large intestine	NCIH716	7.7
Large intestine	NCIH747	7.4
Large intestine	OUMS23	7.5
Large intestine	RCM1	7.1
Large intestine	RKO	7
Large intestine	SKCO1	7.8
Large intestine	SNU1040	7.8
Large intestine	SNU1197	7.1
Large intestine	SNU175	7.8
Large intestine	SNU283	8
Large intestine	SNU407	7.8
Large intestine	SNU503	6.9
Large intestine	SNU61	7.4
Large intestine	SNU81	7.7
Large intestine	SNUC1	7.5
Large intestine	SNUC2A	7.1
Large intestine	SNUC4	8
Large intestine	SNUC5	8.1
Large intestine	SW1116	7.1
Large intestine	SW1417	8
Large intestine	SW1463	7.7
Large intestine	SW403	7.5
Large intestine	SW480	7.7
Large intestine	SW48	7.5
Large intestine	SW620	7.8
Large intestine	SW837	6.9
Large intestine	SW948	8
Large intestine	T84	7.5
Liver	ALEXANDERCELLS	7
Liver	C3A	7.9
Liver	HEP3B217	7.5
Liver	HEPG2	7.7
Liver	HLE	7.5
Liver	HLF	7
Liver	HUH1	7.4
Liver	HUH6	8.3
Liver	HUH7	8
Liver	JHH1	7
Liver	JHH2	6.4
Liver	JHH4	7.4
Liver	JHH5	7.7
Liver	JHH6	7.5
Liver	JHH7	6.9
Liver	LI7	7.7
Liver	PLCPRF5	7.1
Liver	SKHEP1	7.6
Liver	SNU182	7.3
Liver	SNU387	7
Liver	SNU398	7.7
Liver	SNU423	7.2
Liver	SNU449	7.3
Liver	SNU475	7.1
Liver	SNU761	7.7
Liver	SNU878	7.4
Liver	SNU886	7.7
Lung	A549	7.2
Lung	ABC1	7.8
Lung	BEN	6.6
Lung	CAL12T	6.7
Lung	CALU1	6.7
Lung	CALU3	7.2
Lung	CALU6	7.4
Lung	CHAGOK1	6.9
Lung	COLO668	7.9
Lung	COLO699	7.4
Lung	CORL105	7.3
Lung	CORL23	7
Lung	CORL24	7.3
Lung	CORL279	6.7
Lung	CORL311	7.6
Lung	CORL47	7
Lung	CORL51	7.2
Lung	CORL88	7.5
Lung	CORL95	7.5
Lung	CPCN	6.7
Lung	DMS114	7.7
Lung	DMS153	7.1
Lung	DMS273	7
Lung	DMS454	6
Lung	DMS53	5.9
Lung	DMS79	7.2
Lung	DV90	7.4
Lung	EBC1	7.7
Lung	EPLC272H	6.7
Lung	HARA	7.5
Lung	HCC1171	7.8
Lung	HCC1195	6.7
Lung	HCC15	6.8
Lung	HCC2279	7.5
Lung	HCC2935	6.8
Lung	HCC33	7.8
Lung	HCC366	7.6
Lung	HCC4006	7.1
Lung	HCC44	7.5
Lung	HCC78	7.6
Lung	HCC827	7.2
Lung	HCC95	7.2
Lung	HLC1	8
Lung	HLFA	7.3
Lung	HS229T	7.7
Lung	HS618T	7.3
Lung	IALM	7.3
Lung	KNS62	6.4
Lung	LC1F	6.9
Lung	LC1SQSF	7.2
Lung	LCLC103H	8
Lung	LCLC97TM1	7.9
Lung	LK2	7.2
Lung	LOUNH91	7.8
Lung	LU65	7.9
Lung	LU99	8.2
Lung	LUDLU1	7.2
Lung	LXF289	7.8
Lung	MORCPR	7.2
Lung	NCIH1048	8.1
Lung	NCIH1092	7.9
Lung	NCIH1105	8.2
Lung	NCIH1155	7.6
Lung	NCIH1184	7.9
Lung	NCIH1299	6.9
Lung	NCIH1339	7.6
Lung	NCIH1341	7.6
Lung	NCIH1355	7.1
Lung	NCIH1373	7.2
Lung	NCIH1385	6.5
Lung	NCIH1395	7.1
Lung	NCIH1435	7.1
Lung	NCIH1436	7
Lung	NCIH1437	6.8
Lung	NCIH146	7.3
Lung	NCIH1563	7.6
Lung	NCIH1568	7.8
Lung	NCIH1573	6.6
Lung	NCIH1581	7.8
Lung	NCIH1618	7.8
Lung	NCIH1623	7.9
Lung	NCIH1648	7.7
Lung	NCIH1650	7.6
Lung	NCIH1651	7.1
Lung	NCIH1666	7.4
Lung	NCIH1693	6.6
Lung	NCIH1694	6.9
Lung	NCIH1703	8.2
Lung	NCIH1734	7.4
Lung	NCIH1755	7.3
Lung	NCIH1781	7.5
Lung	NCIH1792	7
Lung	NCIH1793	7.6
Lung	NCIH1836	7.5
Lung	NCIH1838	6.9
Lung	NCIH1869	7.8
Lung	NCIH1876	8
Lung	NCIH1915	7.6
Lung	NCIH1930	7.2
Lung	NCIH1944	7.2
Lung	NCIH1963	7.4
Lung	NCIH196	7.7
Lung	NCIH1975	7.4
Lung	NCIH2009	7.4
Lung	NCIH2023	7.2
Lung	NCIH2029	7.9
Lung	NCIH2030	7.1
Lung	NCIH2066	6.8
Lung	NCIH2081	6.3
Lung	NCIH2085	8
Lung	NCIH2087	6.9
Lung	NCIH209	7
Lung	NCIH2106	8
Lung	NCIH2110	7.4
Lung	NCIH211	7.1
Lung	NCIH2122	7
Lung	NCIH2126	6.9
Lung	NCIH2141	7.5
Lung	NCIH2170	7.1
Lung	NCIH2171	6.9
Lung	NCIH2172	6.7
Lung	NCIH2196	6.3
Lung	NCIH2227	7.9
Lung	NCIH2228	6.8
Lung	NCIH226	8.2
Lung	NCIH2286	7.2
Lung	NCIH2291	7.3
Lung	NCIH2342	7.3
Lung	NCIH2347	7.9
Lung	NCIH23	7.8
Lung	NCIH2405	6.9
Lung	NCIH2444	6.1
Lung	NCIH292	7.4
Lung	NCIH322	7.4
Lung	NCIH3255	7
Lung	NCIH358	7.4
Lung	NCIH441	6.9
Lung	NCIH446	6.7
Lung	NCIH460	7.2
Lung	NCIH510	7.6
Lung	NCIH520	6.9
Lung	NCIH522	7.5
Lung	NCIH524	7.3
Lung	NCIH526	7.7
Lung	NCIH596	7.2
Lung	NCIH647	7
Lung	NCIH650	7.4
Lung	NCIH661	7.5
Lung	NCIH69	7.3
Lung	NCIH727	7.1
Lung	NCIH810	6.4
Lung	NCIH82	7.2
Lung	NCIH838	8.1
Lung	NCIH841	7.5
Lung	NCIH854	7.1
Lung	NCIH889	7.1
Lung	PC14	7.8
Lung	RERFLCAD1	7.4
Lung	RERFLCAD2	7.1
Lung	RERFLCAI	7.3
Lung	RERFLCKJ	7
Lung	RERFLCMS	7
Lung	RERFLCSQ1	7.4
Lung	SBC5	6.9
Lung	SCLC21H	7.1
Lung	SHP77	7.5
Lung	SKLU1	7.2
Lung	SKMES1	6.7
Lung	SQ1	7
Lung	SW1271	7.5
Lung	SW1573	8.1
Lung	SW900	6.6
Lung	VMRCLCD	6.5
Lung	VMRCLCP	7.6
Oesophagus	COLO680N	7
Oesophagus	ECGI10	6.8
Oesophagus	KYSE140	7.5
Oesophagus	KYSE150	7.4
Oesophagus	KYSE180	7.8
Oesophagus	KYSE270	7.1
Oesophagus	KYSE30	7
Oesophagus	KYSE410	7.6
Oesophagus	KYSE450	7.6
Oesophagus	KYSE510	6.9
Oesophagus	KYSE520	7.3
Oesophagus	KYSE70	7.7
Oesophagus	OE19	6.8
Oesophagus	OE33	7.2
Oesophagus	TE10	7.6
Oesophagus	TE11	7.4
Oesophagus	TE14	7.4
Oesophagus	TE15	7.4
Oesophagus	TE1	7.5
Oesophagus	TE4	7.7
Oesophagus	TE5	7.5
Oesophagus	TE6	7.6
Oesophagus	TE8	7.9
Oesophagus	TE9	6.9
Oesophagus	TT	7.1
Ovary	59M	7.1
Ovary	A2780	7.9
Ovary	CAOV3	6.9
Ovary	CAOV4	7.7
Ovary	COLO704	7.7
Ovary	COV318	7.3
Ovary	COV362	7.8
Ovary	COV434	7.7
Ovary	COV504	7.4
Ovary	COV644	8
Ovary	EFO21	7.3
Ovary	EFO27	7.4
Ovary	ES2	7.3
Ovary	FUOV1	7
Ovary	HEYA8	7.2
Ovary	HS571T	7
Ovary	IGROV1	7.6
Ovary	JHOC5	7.4
Ovary	JHOM1	7.8
Ovary	JHOM2B	8.2
Ovary	JHOS2	7.4
Ovary	JHOS4	7.3
Ovary	KURAMOCHI	7.4
Ovary	MCAS	7
Ovary	NIHOVCAR3	7.6
Ovary	OAW28	8.4
Ovary	OAW42	7.2
Ovary	OC314	7.6
Ovary	OC316	7.9
Ovary	ONCODG1	7.7
Ovary	OV56	7.5
Ovary	OV7	7.9
Ovary	OV90	7.1
Ovary	OVCAR4	7.3
Ovary	OVCAR8	8.2
Ovary	OVISE	7.7
Ovary	OVK18	7.5
Ovary	OVKATE	7
Ovary	OVMANA	7.2
Ovary	OVSAHO	7
Ovary	OVTOKO	6.7
Ovary	RMGI	6.6
Ovary	RMUGS	6.8
Ovary	SKOV3	6.8
Ovary	SNU119	8.2
Ovary	SNU840	8.2
Ovary	SNU8	7.2
Ovary	TOV112D	7
Ovary	TOV21G	7.5
Ovary	TYKNU	7.2
Pancreas	ASPC1	7.1
Pancreas	BXPC3	7
Pancreas	CAPAN1	8.4
Pancreas	CAPAN2	7.5
Pancreas	CFPAC1	6.4
Pancreas	DANG	7.2
Pancreas	HPAC	8
Pancreas	HPAFII	6.7
Pancreas	HS766T	6.8
Pancreas	HUPT3	7.8
Pancreas	HUPT4	7.2
Pancreas	KCIMOH1	7.8
Pancreas	KLM1	7.1
Pancreas	KP2	8.1
Pancreas	KP3	7.3
Pancreas	KP4	7.4
Pancreas	L33	7.1
Pancreas	MIAPACA2	7.4
Pancreas	PANC0203	7.1
Pancreas	PANC0213	7.9
Pancreas	PANC0327	7.7
Pancreas	PANC0403	7.1
Pancreas	PANC0504	7.4
Pancreas	PANC0813	7.9
Pancreas	PANC1005	7.1
Pancreas	PANC1	7.4
Pancreas	PATU8902	6.9
Pancreas	PATU8988S	7.9
Pancreas	PATU8988T	7.9
Pancreas	PK1	7.1
Pancreas	PK45H	7.5
Pancreas	PK59	7.9
Pancreas	PL45	7.2
Pancreas	PSN1	7.8
Pancreas	QGP1	7.4
Pancreas	SNU213	7.8
Pancreas	SNU324	7.7
Pancreas	SNU410	7.1
Pancreas	SU8686	6.8
Pancreas	SUIT2	8
Pancreas	SW1990	8.1
Pancreas	T3M4	7
Pancreas	TCCPAN2	6.5
Pancreas	YAPC	7.1
Pleura	ACCMESO1	7.3
Pleura	DM3	6.8
Pleura	ISTMES1	7.6
Pleura	ISTMES2	7.1
Pleura	JL1	7
Pleura	MPP89	7.7
Pleura	MSTO211H	7.5
Pleura	NCIH2052	7.3
Pleura	NCIH2452	7.1
Pleura	NCIH28	8.6
Prostate	22RV1	7.7
Prostate	DU145	7
Prostate	LNCAPCLONEFGC	7.4
Prostate	MDAPCA2B	7.6
Prostate	NCIH660	8.3
Prostate	PC3	7.1
Prostate	VCAP	8.2
Salivary gland	A253	7.4
Salivary gland	YD15	7.4
Skin	A101D	6.6
Skin	A2058	7.3
Skin	A375	7.1
Skin	C32	7
Skin	CHL1	7.3
Skin	CJM	7.7
Skin	COLO679	7
Skin	COLO741	7.5
Skin	COLO783	7.5
Skin	COLO792	6.2
Skin	COLO800	7
Skin	COLO818	6.9
Skin	COLO829	7.8
Skin	COLO849	7.8
Skin	G361	7.9
Skin	GRM	7.1
Skin	HMCB	7.6
Skin	HS294T	6.8
Skin	HS600T	7.3
Skin	HS688AT	7.4
Skin	HS695T	7
Skin	HS839T	7.3
Skin	HS852T	7.9
Skin	HS895T	7.3
Skin	HS934T	7.4
Skin	HS936T	7
Skin	HS939T	7.2
Skin	HS940T	7.5
Skin	HS944T	7
Skin	HT144	7.5
Skin	IGR1	7.3
Skin	IGR37	6.7
Skin	IGR39	7.9
Skin	IPC298	6.8
Skin	K029AX	7.3
Skin	LOXIMVI	7.1
Skin	MALME3M	6.8
Skin	MDAMB435S	6.5
Skin	MELHO	7.1
Skin	MELJUSO	7.5
Skin	MEWO	7.6
Skin	RPMI7951	7.8
Skin	RVH421	7.3
Skin	SH4	7.2
Skin	SKMEL1	6.9
Skin	SKMEL24	6.3
Skin	SKMEL28	6.8
Skin	SKMEL2	7.4
Skin	SKMEL30	7.5
Skin	SKMEL31	7.2
Skin	SKMEL3	6.8
Skin	SKMEL5	6.8
Skin	UACC257	5.9
Skin	UACC62	7
Skin	WM115	7.2
Skin	WM1799	7.4
Skin	WM2664	6.9
Skin	WM793	7.4
Skin	WM88	7
Skin	WM983B	7.1
Small intestine	HUTU80	8
Soft tissue	A204	7.6
Soft tissue	G401	7.8
Soft tissue	G402	7.8
Soft tissue	GCT	7.4
Soft tissue	HS729	8.1
Soft tissue	HT1080	7.7
Soft tissue	KYM1	7.7
Soft tissue	MESSA	7.6
Soft tissue	RD	7.6
Soft tissue	RH30	7.6
Soft tissue	RH41	7
Soft tissue	RKN	7.3
Soft tissue	S117	7.6
Soft tissue	SJRH30	7.4
Soft tissue	SKLMS1	7.7
Soft tissue	SKUT1	8.1
Soft tissue	TE125T	7.3
Soft tissue	TE159T	7.3
Soft tissue	TE441T	8.1
Soft tissue	TE617T	7.8
Stomach	2313287	7.3
Stomach	AGS	8.1
Stomach	AZ521	8
Stomach	ECC10	8.5
Stomach	ECC12	8.2
Stomach	FU97	7.7
Stomach	GCIY	7.4
Stomach	GSS	6.8
Stomach	GSU	8.1
Stomach	HGC27	7.4
Stomach	HS746T	7.7
Stomach	HUG1N	7.5
Stomach	IM95	7.4
Stomach	KATOIII	7.6
Stomach	KE39	7.5
Stomach	LMSU	7.6
Stomach	MKN1	7.8
Stomach	MKN45	8.4
Stomach	MKN74	7.4
Stomach	MKN7	7.7
Stomach	NCCSTCK140	7.9
Stomach	NCIN87	6.9
Stomach	NUGC2	6.6
Stomach	NUGC3	6.7
Stomach	NUGC4	8.2
Stomach	OCUM1	7.3
Stomach	RERFGC1B	7.7
Stomach	SH10TC	7.9
Stomach	SNU16	7.4
Stomach	SNU1	7.9
Stomach	SNU216	8.1
Stomach	SNU520	8
Stomach	SNU5	7.5
Stomach	SNU601	7.8
Stomach	SNU620	8
Stomach	SNU668	7.2
Stomach	SNU719	7.3
Stomach	TGBC11TKB	8.1
Thyroid	8305C	7.3
Thyroid	8505C	8.4
Thyroid	BCPAP	7.3
Thyroid	BHT101	7.3
Thyroid	CAL62	7.2
Thyroid	CGTHW1	7.1
Thyroid	FTC133	7.5
Thyroid	FTC238	7.4
Thyroid	ML1	7.1
Thyroid	SW579	7.1
Thyroid	TT2609C02	7.8
Thyroid	TT	6.5
Upper aerodigestive tract	BHY	7.4
Upper aerodigestive tract	BICR16	6.5
Upper aerodigestive tract	BICR18	6.3
Upper aerodigestive tract	BICR22	6.9
Upper aerodigestive tract	BICR31	6.8
Upper aerodigestive tract	BICR56	6.6
Upper aerodigestive tract	BICR6	7.3
Upper aerodigestive tract	CAL27	6.5
Upper aerodigestive tract	CAL33	6.4
Upper aerodigestive tract	DETROIT562	7.2
Upper aerodigestive tract	FADU	7.3
Upper aerodigestive tract	HS840T	7.2
Upper aerodigestive tract	HSC2	7.4
Upper aerodigestive tract	HSC3	7.5
Upper aerodigestive tract	HSC4	8.1
Upper aerodigestive tract	PECAPJ15	7.1
Upper aerodigestive tract	PECAPJ34CLONEC12	7
Upper aerodigestive tract	PECAPJ41CLONED2	7
Upper aerodigestive tract	PECAPJ49	6.4
Upper aerodigestive tract	SCC15	6.9
Upper aerodigestive tract	SCC25	6.7
Upper aerodigestive tract	SCC4	7.1
Upper aerodigestive tract	SCC9	6.9
Upper aerodigestive tract	SNU1076	7
Upper aerodigestive tract	SNU1214	7.2
Upper aerodigestive tract	SNU46	7.1
Upper aerodigestive tract	SNU899	7
Upper aerodigestive tract	YD10B	7.1
Upper aerodigestive tract	YD38	7.1
Upper aerodigestive tract	YD8	7.7
Urinary tract	5637	6.9
Urinary tract	639V	8.4
Urinary tract	647V	7.7
Urinary tract	BC3C	7.1
Urinary tract	BFTC905	7.4
Urinary tract	CAL29	7.2
Urinary tract	HS172T	6.8
Urinary tract	HT1197	7
Urinary tract	HT1376	7.5
Urinary tract	J82	7.7
Urinary tract	JMSU1	8.3
Urinary tract	KMBC2	8
Urinary tract	KU1919	7.4
Urinary tract	RT11284	7.9
Urinary tract	RT112	7.2
Urinary tract	RT4	8
Urinary tract	SCABER	7.3
Urinary tract	SW1710	7.8
Urinary tract	SW780	7.1
Urinary tract	T24	7.4
Urinary tract	TCCSUP	7.4
Urinary tract	UMUC1	6.5
Urinary tract	UMUC3	7.5
Urinary tract	VMCUB1	7.6

> The Human Protein Atlas (HPA)

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Tissue	Expression Level (TPM)
Adipose tissue	10
Adrenal gland	7.9
Appendix	13.4
Bone marrow	13.6
Breast	11.1
Cerebral cortex	11.3
Cervix, uterine	18
Colon	8.7
Duodenum	9.8
Endometrium	19.8
Epididymis	4.4
Esophagus	9.9
Fallopian tube	16.6
Gallbladder	12.1
Heart muscle	4.2
Kidney	11.1
Liver	5
Lung	12.9
Lymph node	14.5
Ovary	17.9
Pancreas	2.6
Parathyroid gland	30.5
Placenta	14.9
Prostate	14.3
Rectum	11.4
Salivary gland	3.3
Seminal vesicle	12.5
Skeletal muscle	1.8
Skin	8.6
Small intestine	10.9
Smooth muscle	16.3
Spleen	13.7
Stomach	9.3
Testis	22.8
Thyroid gland	24.6
Tonsil	12.2
Urinary bladder	11

> Text Mining based Expression

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PMID	Expression	Cancer	Evidence
28260718	Underexpression	Renal Cell Carcinoma	Both SETD2 and H3K36me3 were heterogeneously stained and down-regulated in ccRCC tissues, compared with normal controls. In addition, cox multivariate analysis identified low SETD2 protein expression as an independent prognostic factor for overall survival of ccRCC patients.

Summary
Symbol	SETD2
Name	SET domain containing 2
Aliases	HYPB; HIF-1; KIAA1732; FLJ23184; KMT3A; HBP231; HSPC069; SET2; p231HBP; huntingtin yeast partner B; huntingt ......
Location	3p21.31
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	0.518	3.91e-29	26	47.8	26.2	Neutral
BRCA	Breast invasive carcinoma	1075	0.498	2.02e-68	31.2	60.2	8.7	Neutral
CESC	Cervical and endocervical cancers	292	0.623	7.83e-33	39.4	49.7	11	Loss
COAD	Colon adenocarcinoma	449	0.373	2.83e-16	15.1	76.2	8.7	Neutral
ESCA	Esophageal carcinoma	183	0.605	1.26e-19	63.9	28.4	7.7	Loss
GBM	Glioblastoma multiforme	147	0.406	3.39e-07	10.2	76.2	13.6	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.389	5.12e-20	72	26.5	1.6	Loss
KIRC	Kidney renal clear cell carcinoma	525	0.391	1.35e-20	88	10.9	1.1	Loss
KIRP	Kidney renal papillary cell carcinoma	288	0.543	1.76e-23	8.7	66.7	24.7	Neutral
LAML	Acute Myeloid Leukemia	166	0.292	0.000138	3.6	95.8	0.6	Neutral
LGG	Brain Lower Grade Glioma	513	0.369	5.86e-18	10.1	87.9	1.9	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.359	1.55e-12	16.8	72.5	10.7	Neutral
LUAD	Lung adenocarcinoma	512	0.373	2.2e-18	47.1	47.3	5.7	Loss
LUSC	Lung squamous cell carcinoma	498	0.219	7.6e-07	85.7	13.5	0.8	Loss
OV	Ovarian serous cystadenocarcinoma	300	0.64	5.09e-36	34.3	47	18.7	Loss
PAAD	Pancreatic adenocarcinoma	177	0.48	1.43e-11	27.1	70.1	2.8	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.643	2.64e-20	37.7	61.1	1.2	Loss
PRAD	Prostate adenocarcinoma	491	0.256	8.39e-09	5.1	87.8	7.1	Neutral
READ	Rectum adenocarcinoma	164	0.426	1.34e-08	14	69.5	16.5	Neutral
SARC	Sarcoma	255	0.47	1.94e-15	24.3	57.3	18.4	Neutral
SKCM	Skin Cutaneous Melanoma	367	0.377	7.87e-14	19.6	62.9	17.4	Neutral
STAD	Stomach adenocarcinoma	413	0.459	6.08e-23	32.7	60.5	6.8	Neutral
TGCT	Testicular Germ Cell Tumors	150	0.251	0.00193	24	58.7	17.3	Neutral
THCA	Thyroid carcinoma	497	0.021	0.637	0.6	98.8	0.6	Neutral
THYM	Thymoma	119	0.29	0.00139	12.6	87.4	0	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.431	1e-25	11.9	77.8	10.2	Neutral

Summary
Symbol	SETD2
Name	SET domain containing 2
Aliases	HYPB; HIF-1; KIAA1732; FLJ23184; KMT3A; HBP231; HSPC069; SET2; p231HBP; huntingtin yeast partner B; huntingt ......
Location	3p21.31
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	-0.107	0.0277	17	408	0.001	0.187	NS/NA
BRCA	Breast invasive carcinoma	-0.312	4.12e-21	83	785	0.001	3.91e-05	NS/NA
CESC	Cervical and endocervical cancers	-0.43	0	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.336	1.07e-09	19	297	0.002	0.00269	NS/NA
ESCA	Esophageal carcinoma	-0.293	3.78e-05	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.191	0.127	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.336	1.2e-15	20	522	0.003	1.44e-08	NS/NA
KIRC	Kidney renal clear cell carcinoma	-0.152	0.00477	24	319	0.014	0.0897	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.318	2.46e-08	23	275	0.002	0.562	NS/NA
LAML	Acute Myeloid Leukemia	-0.151	0.0489	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.177	4.2e-05	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.305	3.02e-10	41	373	0.002	4.84e-06	NS/NA
LUAD	Lung adenocarcinoma	-0.083	0.0714	21	456	-0.001	0.762	NS/NA
LUSC	Lung squamous cell carcinoma	-0.039	0.453	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.733	0.0311	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.191	0.00958	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.403	1.49e-08	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.214	6.24e-07	35	498	0.001	0.0414	NS/NA
READ	Rectum adenocarcinoma	-0.183	0.0671	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.308	4.13e-07	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.223	1.03e-06	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.289	1.61e-08	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.172	0.032	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.142	0.000793	50	509	0.007	0.195	NS/NA
THYM	Thymoma	-0.283	0.00162	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.077	0.0993	34	431	-0.001	0.734	NS/NA

Summary
Symbol	SETD2
Name	SET domain containing 2
Aliases	HYPB; HIF-1; KIAA1732; FLJ23184; KMT3A; HBP231; HSPC069; SET2; p231HBP; huntingtin yeast partner B; huntingt ......
Location	3p21.31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Primary tumor tissue from TCGA > Normal tumor tissue from HPA

>The Cancer Genome Atlas (TCGA)

[ TOP ]

Cancer	Full Name	# Sample	Median (abundance)	MAD (abundance)
BLCA	Bladder urothelial carcinoma	344	-0.06	0.122
BRCA	Breast invasive carcinoma	892	-0.028	0.13
COAD	Colon adenocarcinoma	362	-0.051	0.141
GBM	Glioblastoma multiforme	244	-0.049	0.173
KIRC	Kidney renal clear cell carcinoma	478	0.009	0.123
LIHC	Liver hepatocellular carcinoma	184	-0.057	0.295
LUAD	Lung adenocarcinoma	365	-0.043	0.174
LUSC	Lung squamous cell carcinoma	328	-0.004	0.147
OV	Ovarian serous cystadenocarcinoma	436	-0.024	0.115
READ	Rectum adenocarcinoma	131	-0.01	0.14
SKCM	Skin Cutaneous Melanoma	355	-0.021	0.112
THCA	Thyroid carcinoma	224	0.158	0.175
UCEC	Uterine Corpus Endometrial Carcinoma	440	0.002	0.136

> The Human Protein Atlas (HPA)

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

Summary
Symbol	SETD2
Name	SET domain containing 2
Aliases	HYPB; HIF-1; KIAA1732; FLJ23184; KMT3A; HBP231; HSPC069; SET2; p231HBP; huntingtin yeast partner B; huntingt ......
Location	3p21.31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Association between expresson and subtype > Overall survival analysis based on expression > Association between expresson and stage > Association between expresson and grade

> Subtype

[ TOP ]

Association between expresson and subtype.

Cancer	Full Name	# Patients	P Value (Kruskal-Wallis)	Association	Source
BLCA	Bladder urothelial carcinoma	128	0.085	NS	24476821
BRCA	Breast invasive carcinoma	521	1.71e-07	Significant	23000897
COAD	Colon adenocarcinoma	149	0.00674	Significant	22810696
GBM	Glioblastoma multiforme	157	0.00125	Significant	26824661
HNSC	Head and Neck squamous cell carcinoma	279	0.000203	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.0017	Significant	26536169
LGG	Brain Lower Grade Glioma	513	0.0813	NS	26824661
LUAD	Lung adenocarcinoma	230	0.0956	NS	25079552
LUSC	Lung squamous cell carcinoma	178	0.0586	NS	22960745
OV	Ovarian serous cystadenocarcinoma	287	0.000648	Significant	21720365
PRAD	Prostate adenocarcinoma	333	0.000368	Significant	26544944
READ	Rectum adenocarcinoma	67	0.164	NS	22810696
SKCM	Skin Cutaneous Melanoma	315	0.0441	Significant	26091043
STAD	Stomach adenocarcinoma	277	0.0877	NS	25079317
THCA	Thyroid carcinoma	391	0.000143	Significant	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	0.122	NS	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	0.719	0.117	NS
BRCA	Breast invasive carcinoma	1079	0.842	0.455	NS
CESC	Cervical and endocervical cancers	291	1.147	0.681	NS
COAD	Colon adenocarcinoma	439	0.739	0.284	NS
ESCA	Esophageal carcinoma	184	0.673	0.226	NS
GBM	Glioblastoma multiforme	158	0.736	0.224	NS
HNSC	Head and Neck squamous cell carcinoma	518	0.653	0.0378	Longer
KIRC	Kidney renal clear cell carcinoma	531	0.543	0.00551	Longer
KIRP	Kidney renal papillary cell carcinoma	287	0.396	0.0371	Longer
LAML	Acute Myeloid Leukemia	149	0.833	0.54	NS
LGG	Brain Lower Grade Glioma	511	1.586	0.0696	NS
LIHC	Liver hepatocellular carcinoma	365	1.046	0.863	NS
LUAD	Lung adenocarcinoma	502	0.763	0.204	NS
LUSC	Lung squamous cell carcinoma	494	0.832	0.327	NS
OV	Ovarian serous cystadenocarcinoma	303	0.955	0.824	NS
PAAD	Pancreatic adenocarcinoma	177	1.21	0.533	NS
PCPG	Pheochromocytoma and Paraganglioma	179	797364754.814	0.0493	Shorter
PRAD	Prostate adenocarcinoma	497	5.891	0.1	NS
READ	Rectum adenocarcinoma	159	0.25	0.0429	Longer
SARC	Sarcoma	259	1.687	0.0969	NS
SKCM	Skin Cutaneous Melanoma	459	0.742	0.119	NS
STAD	Stomach adenocarcinoma	388	0.754	0.21	NS
TGCT	Testicular Germ Cell Tumors	134	0.524	0.592	NS
THCA	Thyroid carcinoma	500	1.245	0.744	NS
THYM	Thymoma	119	0.444	0.338	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	0.805	0.43	NS

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	-0.009	0.852	NS
BRCA	Breast invasive carcinoma	1071	-0.039	0.205	NS
CESC	Cervical and endocervical cancers	167	-0.119	0.126	NS
COAD	Colon adenocarcinoma	445	-0.041	0.384	NS
ESCA	Esophageal carcinoma	162	-0.041	0.606	NS
HNSC	Head and Neck squamous cell carcinoma	448	-0.014	0.774	NS
KIRC	Kidney renal clear cell carcinoma	531	-0.159	0.000227	Lower
KIRP	Kidney renal papillary cell carcinoma	260	-0.198	0.00135	Lower
LIHC	Liver hepatocellular carcinoma	347	0.044	0.41	NS
LUAD	Lung adenocarcinoma	507	-0.017	0.707	NS
LUSC	Lung squamous cell carcinoma	497	0.052	0.247	NS
OV	Ovarian serous cystadenocarcinoma	302	-0.084	0.144	NS
PAAD	Pancreatic adenocarcinoma	176	-0.02	0.797	NS
READ	Rectum adenocarcinoma	156	0.009	0.916	NS
SKCM	Skin Cutaneous Melanoma	410	-0.079	0.109	NS
STAD	Stomach adenocarcinoma	392	0.066	0.189	NS
TGCT	Testicular Germ Cell Tumors	81	-0.163	0.147	NS
THCA	Thyroid carcinoma	499	-0.06	0.183	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	-0.096	0.0325	Lower

> 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	0.994	NS
HNSC	Head and Neck squamous cell carcinoma	498	0.081	0.0704	NS
KIRC	Kidney renal clear cell carcinoma	525	-0.122	0.00503	Lower
LGG	Brain Lower Grade Glioma	514	0.051	0.249	NS
LIHC	Liver hepatocellular carcinoma	366	0.055	0.297	NS
OV	Ovarian serous cystadenocarcinoma	296	0.001	0.986	NS
PAAD	Pancreatic adenocarcinoma	176	-0.069	0.362	NS
STAD	Stomach adenocarcinoma	406	-0.051	0.306	NS
UCEC	Uterine Corpus Endometrial Carcinoma	534	0.054	0.21	NS

Summary
Symbol	SETD2
Name	SET domain containing 2
Aliases	HYPB; HIF-1; KIAA1732; FLJ23184; KMT3A; HBP231; HSPC069; SET2; p231HBP; huntingtin yeast partner B; huntingt ......
Location	3p21.31
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	SETD2
Name	SET domain containing 2
Aliases	HYPB; HIF-1; KIAA1732; FLJ23184; KMT3A; HBP231; HSPC069; SET2; p231HBP; huntingtin yeast partner B; huntingt ......
Location	3p21.31
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 SETD2.

Summary
Symbol	SETD2
Name	SET domain containing 2
Aliases	HYPB; HIF-1; KIAA1732; FLJ23184; KMT3A; HBP231; HSPC069; SET2; p231HBP; huntingtin yeast partner B; huntingt ......
Location	3p21.31
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Protein-Protein Interaction Network > miRNA Regulatory Relationship > Interactions from Text Mining

> Protein-Protein Interaction Network [ TOP ]

> miRNA Regulatory Relationship [ TOP ]

> Interactions from Text Mining [ TOP ]
There is no record for SETD2.