CR2Cancer

Summary
Symbol	EP400
Name	E1A binding protein p400
Aliases	CAGH32; KIAA1498; P400; KIAA1818; DKFZP434I225; TNRC12; trinucleotide repeat containing 12; CAG repeat prote ......
Location	12q24.33
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

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Domain

PF15790 E1A-binding protein p400
PF00271 Helicase conserved C-terminal domain
PF07529 HSA
PF00176 SNF2 family N-terminal domain

Function

Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. May be required for transcriptional activation of E2F1 and MYC target genes during cellular proliferation. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. May regulate ZNF42 transcription activity. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AFZ from the nucleosome.

Classification

Class	Modification	Substrate	Product	PubMed
Chromatin remodelling, Histone modification write	#, Histone acetylation	#	#	20876283

> Gene Ontology [ TOP ]
Biological Process	GO:0006473 protein acetylation GO:0006475 internal protein amino acid acetylation GO:0016570 histone modification GO:0016573 histone acetylation GO:0018205 peptidyl-lysine modification GO:0018393 internal peptidyl-lysine acetylation GO:0018394 peptidyl-lysine acetylation GO:0043543 protein acylation GO:0043967 histone H4 acetylation GO:0043968 histone H2A acetylation
Molecular Function	GO:0003682 chromatin binding GO:0003823 antigen binding GO:0004386 helicase activity GO:1990405 protein antigen binding
Cellular Component	GO:0000123 histone acetyltransferase complex GO:0000785 chromatin GO:0000790 nuclear chromatin GO:0000812 Swr1 complex GO:0016604 nuclear body GO:0016607 nuclear speck GO:0031248 protein acetyltransferase complex GO:0035267 NuA4 histone acetyltransferase complex GO:0043189 H4/H2A histone acetyltransferase complex GO:0044454 nuclear chromosome part GO:0070603 SWI/SNF superfamily-type complex GO:0097346 INO80-type complex GO:1902493 acetyltransferase complex GO:1902562 H4 histone acetyltransferase complex

> KEGG and Reactome Pathway [ TOP ]
KEGG	-
Reactome	R-HSA-2559583: Cellular Senescence R-HSA-2262752: Cellular responses to stress R-HSA-3247509: Chromatin modifying enzymes R-HSA-4839726: Chromatin organization R-HSA-2559586: DNA Damage/Telomere Stress Induced Senescence R-HSA-2559584: Formation of Senescence-Associated Heterochromatin Foci (SAHF) R-HSA-3214847: HATs acetylate histones

Summary
Symbol	EP400
Name	E1A binding protein p400
Aliases	CAGH32; KIAA1498; P400; KIAA1818; DKFZP434I225; TNRC12; trinucleotide repeat containing 12; CAG repeat prote ......
Location	12q24.33
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
COSM1197153	c.7988C>T	p.T2663M	Substitution - Missense	Lung
COSM3458264	c.8075C>T	p.S2692F	Substitution - Missense	Skin
COSM50954	c.147G>A	p.S49S	Substitution - coding silent	Breast
COSM4819757	c.995C>G	p.S332C	Substitution - Missense	Cervix
COSM5417145	c.2535G>A	p.W845*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM4880289	c.2413G>A	p.V805I	Substitution - Missense	Prostate
COSM1360171	c.2503G>A	p.A835T	Substitution - Missense	Large_intestine
COSM5010097	c.3398T>C	p.L1133P	Substitution - Missense	Large_intestine
COSM3687863	c.3872G>A	p.R1291H	Substitution - Missense	Upper_aerodigestive_tract
COSM692222	c.6826G>T	p.V2276F	Substitution - Missense	Lung
COSM4483756	c.2733C>T	p.D911D	Substitution - coding silent	Skin
COSM4603312	c.8184_8185insCAG	p.Q2748_T2749insQ	Insertion - In frame	Upper_aerodigestive_tract
COSM1561754	c.2151A>G	p.P717P	Substitution - coding silent	Large_intestine
COSM4146853	c.6646A>C	p.T2216P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1360189	c.8214G>A	p.Q2738Q	Substitution - coding silent	Prostate
COSM4681144	c.8268A>C	p.Q2756H	Substitution - Missense	Large_intestine
COSM5685584	c.5143G>A	p.D1715N	Substitution - Missense	Soft_tissue
COSM4681129	c.6607G>A	p.D2203N	Substitution - Missense	Large_intestine
COSM4950372	c.9143G>T	p.G3048V	Substitution - Missense	Liver
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Prostate
COSM3671013	c.1743G>T	p.P581P	Substitution - coding silent	Prostate
COSM4603312	c.8184_8185insCAG	p.Q2748_T2749insQ	Insertion - In frame	Upper_aerodigestive_tract
COSM147636	c.4758A>G	p.P1586P	Substitution - coding silent	Stomach
COSM3980927	c.5767A>T	p.S1923C	Substitution - Missense	Ovary
COSM3458216	c.224C>T	p.T75I	Substitution - Missense	Skin
COSM1299144	c.8205G>A	p.Q2735Q	Substitution - coding silent	Urinary_tract
COSM4747896	c.502delG	p.G169fs*9	Deletion - Frameshift	Stomach
COSM5762219	c.7549C>A	p.P2517T	Substitution - Missense	Pancreas
COSM4603373	c.8156_8157insGCA	p.Q2748_T2749insQ	Insertion - In frame	Upper_aerodigestive_tract
COSM4603373	c.8156_8157insGCA	p.Q2748_T2749insQ	Insertion - In frame	Upper_aerodigestive_tract
COSM4957883	c.7683G>A	p.A2561A	Substitution - coding silent	Liver
COSM1360188	c.8187G>A	p.Q2729Q	Substitution - coding silent	Large_intestine
COSM1360186	c.8178A>G	p.Q2726Q	Substitution - coding silent	Large_intestine
COSM5704355	c.8555C>A	p.T2852N	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4040279	c.5644C>A	p.L1882M	Substitution - Missense	Stomach
COSM356743	c.8223G>A	p.Q2741Q	Substitution - coding silent	Skin
COSM937159	c.3639G>A	p.S1213S	Substitution - coding silent	Endometrium
COSM3458280	c.9329C>T	p.P3110L	Substitution - Missense	Skin
COSM3998705	c.4499A>C	p.H1500P	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM1360190	c.8374delC	p.P2793fs*46	Deletion - Frameshift	Large_intestine
COSM5599468	c.5622G>A	p.L1874L	Substitution - coding silent	Skin
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Thyroid
COSM1360175	c.4318C>T	p.R1440C	Substitution - Missense	Large_intestine
COSM3376183	c.5065G>A	p.G1689R	Substitution - Missense	Pancreas
COSM5722091	c.3451G>A	p.E1151K	Substitution - Missense	Skin
COSM5549396	c.8581G>A	p.A2861T	Substitution - Missense	Prostate
COSM4603373	c.8156_8157insGCA	p.Q2748_T2749insQ	Insertion - In frame	Autonomic_ganglia
COSM4603312	c.8184_8185insCAG	p.Q2748_T2749insQ	Insertion - In frame	Upper_aerodigestive_tract
COSM5733014	c.113C>T	p.P38L	Substitution - Missense	Pancreas
COSM3739508	c.1111T>C	p.Y371H	Substitution - Missense	Liver
COSM5823645	c.7244A>G	p.Q2415R	Substitution - Missense	Liver
COSM4040239	c.2512G>A	p.A838T	Substitution - Missense	Stomach
COSM1360186	c.8178A>G	p.Q2726Q	Substitution - coding silent	Large_intestine
COSM1289713	c.89C>A	p.A30D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Liver
COSM3676420	c.9334G>A	p.V3112I	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM252490	c.6590A>T	p.Y2197F	Substitution - Missense	Ovary
COSM1360178	c.4944C>T	p.G1648G	Substitution - coding silent	Large_intestine
COSM1756766	c.3426C>T	p.L1142L	Substitution - coding silent	Urinary_tract
COSM4040259	c.4452A>G	p.A1484A	Substitution - coding silent	Stomach
COSM3458243	c.4459C>T	p.P1487S	Substitution - Missense	Skin
COSM1299143	c.8199G>A	p.Q2733Q	Substitution - coding silent	Large_intestine
COSM1360191	c.8634G>A	p.A2878A	Substitution - coding silent	Large_intestine
COSM937181	c.7069G>A	p.V2357M	Substitution - Missense	Endometrium
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Central_nervous_system
COSM147637	c.6345G>A	p.E2115E	Substitution - coding silent	Stomach
COSM4589607	c.8181_8182insCAGCAGCAG	p.Q2748_T2749insQQQ	Insertion - In frame	Skin
COSM4603373	c.8156_8157insGCA	p.Q2748_T2749insQ	Insertion - In frame	Upper_aerodigestive_tract
COSM468034	c.3205C>T	p.L1069F	Substitution - Missense	Kidney
COSM4040256	c.4400G>A	p.R1467Q	Substitution - Missense	Stomach
COSM1360194	c.8785C>T	p.Q2929*	Substitution - Nonsense	Oesophagus
COSM4040233	c.1388C>T	p.T463M	Substitution - Missense	Stomach
COSM4146856	c.9230C>A	p.A3077E	Substitution - Missense	Thyroid
COSM5782586	c.9240G>A	p.P3080P	Substitution - coding silent	Breast
COSM4602753	c.3769G>C	p.V1257L	Substitution - Missense	Upper_aerodigestive_tract
COSM1360186	c.8178A>G	p.Q2726Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM4146853	c.6646A>C	p.T2216P	Substitution - Missense	Upper_aerodigestive_tract
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Breast
COSM310891	c.2969G>A	p.R990H	Substitution - Missense	Large_intestine
COSM3416636	c.5913C>T	p.C1971C	Substitution - coding silent	Large_intestine
COSM5970602	c.8577G>A	p.L2859L	Substitution - coding silent	Upper_aerodigestive_tract
COSM3458251	c.6007C>T	p.L2003L	Substitution - coding silent	Skin
COSM2229111	c.4002C>T	p.H1334H	Substitution - coding silent	Oesophagus
COSM4681127	c.5555C>T	p.P1852L	Substitution - Missense	Large_intestine
COSM4603373	c.8156_8157insGCA	p.Q2748_T2749insQ	Insertion - In frame	Upper_aerodigestive_tract
COSM1492844	c.5284G>A	p.G1762R	Substitution - Missense	Kidney
COSM4622495	c.8491G>A	p.A2831T	Substitution - Missense	Large_intestine
COSM468038	c.8229G>A	p.Q2743Q	Substitution - coding silent	Prostate
COSM5374671	c.4735C>T	p.P1579S	Substitution - Missense	Skin
COSM127890	c.4014C>T	p.V1338V	Substitution - coding silent	Upper_aerodigestive_tract
COSM4801888	c.9135G>T	p.T3045T	Substitution - coding silent	Liver
COSM3726624	c.4384C>T	p.P1462S	Substitution - Missense	Lung
COSM4146858	c.9280G>A	p.A3094T	Substitution - Missense	Thyroid
COSM3931577	c.611G>A	p.G204E	Substitution - Missense	Urinary_tract
COSM1205381	c.7856C>T	p.A2619V	Substitution - Missense	Prostate
COSM5990324	c.3959A>C	p.N1320T	Substitution - Missense	Liver
COSM237341	c.8991C>T	p.A2997A	Substitution - coding silent	Prostate
COSM937161	c.4132G>T	p.D1378Y	Substitution - Missense	Endometrium
COSM1251232	c.8176_8181delCAACAA	p.Q2747_Q2748delQQ	Deletion - In frame	Oesophagus
COSM468038	c.8229G>A	p.Q2743Q	Substitution - coding silent	Central_nervous_system
COSM937141	c.1077G>T	p.P359P	Substitution - coding silent	Endometrium
COSM5431051	c.4448-8G>T	p.?	Unknown	Oesophagus
COSM1251232	c.8176_8181delCAACAA	p.Q2747_Q2748delQQ	Deletion - In frame	Oesophagus
COSM403352	c.6977G>T	p.G2326V	Substitution - Missense	Lung
COSM4537420	c.2417G>C	p.R806T	Substitution - Missense	Skin
COSM5561989	c.7505C>T	p.P2502L	Substitution - Missense	Prostate
COSM4593164	c.6637A>C	p.T2213P	Substitution - Missense	Upper_aerodigestive_tract
COSM1299143	c.8199G>A	p.Q2733Q	Substitution - coding silent	Large_intestine
COSM692215	c.9174C>T	p.T3058T	Substitution - coding silent	Lung
COSM937186	c.7855G>A	p.A2619T	Substitution - Missense	Endometrium
COSM4821367	c.5636G>A	p.R1879H	Substitution - Missense	Cervix
COSM1726920	c.6965C>T	p.T2322I	Substitution - Missense	Liver
COSM937192	c.8996C>T	p.A2999V	Substitution - Missense	Endometrium
COSM692223	c.6106G>A	p.D2036N	Substitution - Missense	Lung
COSM3811500	c.4001A>C	p.H1334P	Substitution - Missense	Breast
COSM4999542	c.5913C>A	p.C1971*	Substitution - Nonsense	Pancreas
COSM3811514	c.7931C>T	p.P2644L	Substitution - Missense	Breast
COSM4848472	c.3906C>T	p.D1302D	Substitution - coding silent	Cervix
COSM1251236	c.5239G>C	p.V1747L	Substitution - Missense	Stomach
COSM4681109	c.2178G>A	p.S726S	Substitution - coding silent	Large_intestine
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Urinary_tract
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Skin
COSM2001128	c.6836G>A	p.R2279Q	Substitution - Missense	Pancreas
COSM50956	c.8658G>A	p.P2886P	Substitution - coding silent	Breast
COSM1605807	c.108G>C	p.P36P	Substitution - coding silent	Liver
COSM5990324	c.3959A>C	p.N1320T	Substitution - Missense	Liver
COSM2229065	c.2113C>T	p.R705W	Substitution - Missense	Liver
COSM4792383	c.3670A>C	p.T1224P	Substitution - Missense	Liver
COSM1756767	c.4536G>A	p.P1512P	Substitution - coding silent	Urinary_tract
COSM1360186	c.8178A>G	p.Q2726Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Prostate
COSM269099	c.8940C>A	p.A2980A	Substitution - coding silent	Large_intestine
COSM107869	c.126C>T	p.F42F	Substitution - coding silent	Large_intestine
COSM4622495	c.8491G>A	p.A2831T	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM5766034	c.8682A>G	p.G2894G	Substitution - coding silent	Large_intestine
COSM3384159	c.3883C>T	p.R1295*	Substitution - Nonsense	Pancreas
COSM5722091	c.3451G>A	p.E1151K	Substitution - Missense	Skin
COSM468035	c.3520C>T	p.R1174*	Substitution - Nonsense	Kidney
COSM4516521	c.18_19CC>TT	p.P7S	Substitution - Missense	Skin
COSM3416632	c.3335G>T	p.R1112I	Substitution - Missense	Large_intestine
COSM4681142	c.8211G>A	p.Q2737Q	Substitution - coding silent	Large_intestine
COSM937180	c.7068C>T	p.I2356I	Substitution - coding silent	Endometrium
COSM4575224	c.5691C>T	p.F1897F	Substitution - coding silent	Bone
COSM4146853	c.6646A>C	p.T2216P	Substitution - Missense	Upper_aerodigestive_tract
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Prostate
COSM4593164	c.6637A>C	p.T2213P	Substitution - Missense	Upper_aerodigestive_tract
COSM1360187	c.8184G>A	p.Q2728Q	Substitution - coding silent	Large_intestine
COSM1360187	c.8184G>A	p.Q2728Q	Substitution - coding silent	Liver
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Kidney
COSM4455742	c.8824A>C	p.K2942Q	Substitution - Missense	Skin
COSM937148	c.2429G>A	p.R810H	Substitution - Missense	Endometrium
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Large_intestine
COSM2001132	c.6969T>C	p.A2323A	Substitution - coding silent	Large_intestine
COSM1360168	c.1819C>T	p.P607S	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM356743	c.8223G>A	p.Q2741Q	Substitution - coding silent	Prostate
COSM1605806	c.97A>C	p.N33H	Substitution - Missense	Upper_aerodigestive_tract
COSM3458268	c.8565C>T	p.P2855P	Substitution - coding silent	Skin
COSM1205376	c.3469G>A	p.V1157I	Substitution - Missense	Large_intestine
COSM5500879	c.6916delA	p.K2306fs*39	Deletion - Frameshift	Biliary_tract
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Breast
COSM4469036	c.1578C>T	p.L526L	Substitution - coding silent	Skin
COSM937168	c.5712C>A	p.T1904T	Substitution - coding silent	Endometrium
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Prostate
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Prostate
COSM5893658	c.7222C>T	p.R2408C	Substitution - Missense	Skin
COSM430756	c.5956G>C	p.V1986L	Substitution - Missense	Breast
COSM1511176	c.7527G>C	p.P2509P	Substitution - coding silent	Thyroid
COSM3871116	c.131C>T	p.P44L	Substitution - Missense	Skin
COSM2229046	c.1412C>T	p.A471V	Substitution - Missense	Pancreas
COSM3458278	c.9178A>G	p.T3060A	Substitution - Missense	Skin
COSM2229160	c.5434C>T	p.P1812S	Substitution - Missense	Stomach
COSM937165	c.5280G>A	p.E1760E	Substitution - coding silent	Endometrium
COSM3871120	c.1950C>T	p.L650L	Substitution - coding silent	Skin
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Kidney
COSM468038	c.8229G>A	p.Q2743Q	Substitution - coding silent	Oesophagus
COSM1605812	c.8633C>T	p.A2878V	Substitution - Missense	Liver
COSM1511174	c.8260C>T	p.Q2754*	Substitution - Nonsense	Breast
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Skin
COSM3458272	c.8793G>A	p.L2931L	Substitution - coding silent	Skin
COSM5521099	c.7277C>T	p.T2426M	Substitution - Missense	Biliary_tract
COSM5051460	c.4482C>T	p.S1494S	Substitution - coding silent	Stomach
COSM4572619	c.8108T>C	p.V2703A	Substitution - Missense	Skin
COSM4641649	c.4983C>T	p.G1661G	Substitution - coding silent	Large_intestine
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Endometrium
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Large_intestine
COSM2001148	c.7798G>A	p.V2600M	Substitution - Missense	Prostate
COSM692228	c.3373C>T	p.R1125C	Substitution - Missense	Lung
COSM5017859	c.8734delC	p.P2912fs*20	Deletion - Frameshift	Soft_tissue
COSM5043662	c.5951+7G>A	p.?	Unknown	Liver
COSM5458348	c.4539C>A	p.A1513A	Substitution - coding silent	Large_intestine
COSM3811510	c.5772C>A	p.F1924L	Substitution - Missense	Breast
COSM4681097	c.283delC	p.P95fs*83	Deletion - Frameshift	Large_intestine
COSM3458218	c.356C>T	p.S119L	Substitution - Missense	Skin
COSM4843677	c.1454G>C	p.R485P	Substitution - Missense	Cervix
COSM1605806	c.97A>C	p.N33H	Substitution - Missense	Upper_aerodigestive_tract
COSM4681101	c.1280A>G	p.E427G	Substitution - Missense	Large_intestine
COSM5493060	c.3634G>A	p.D1212N	Substitution - Missense	Biliary_tract
COSM317285	c.6296C>A	p.S2099*	Substitution - Nonsense	Soft_tissue
COSM937185	c.7459G>A	p.A2487T	Substitution - Missense	Large_intestine
COSM5017357	c.92_93insC	p.N33fs*32	Insertion - Frameshift	Soft_tissue
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Oesophagus
COSM3687861	c.3480G>A	p.T1160T	Substitution - coding silent	Large_intestine
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Skin
COSM4040246	c.3271A>T	p.I1091F	Substitution - Missense	Stomach
COSM203997	c.1348G>A	p.A450T	Substitution - Missense	Large_intestine
COSM5827144	c.8182_8184delCAG	p.Q2748delQ	Deletion - In frame	Large_intestine
COSM4937637	c.282G>T	p.L94L	Substitution - coding silent	Liver
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Prostate
COSM4040274	c.5402C>T	p.P1801L	Substitution - Missense	Stomach
COSM5603476	c.8156_8157insCCA	p.R2719>SQ	Complex - insertion inframe	Skin
COSM1360186	c.8178A>G	p.Q2726Q	Substitution - coding silent	Large_intestine
COSM1360187	c.8184G>A	p.Q2728Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1360187	c.8184G>A	p.Q2728Q	Substitution - coding silent	Large_intestine
COSM430757	c.6660C>T	p.D2220D	Substitution - coding silent	Large_intestine
COSM4040254	c.4355C>T	p.T1452M	Substitution - Missense	Stomach
COSM4453301	c.2775A>C	p.A925A	Substitution - coding silent	Skin
COSM4681113	c.2462delG	p.K823fs*8	Deletion - Frameshift	Large_intestine
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Thyroid
COSM3780932	c.7775-7T>G	p.?	Unknown	Pancreas
COSM5361951	c.5166G>A	p.E1722E	Substitution - coding silent	Large_intestine
COSM3811498	c.3036T>A	p.N1012K	Substitution - Missense	Breast
COSM4146849	c.4140C>A	p.I1380I	Substitution - coding silent	Thyroid
COSM937139	c.922G>A	p.A308T	Substitution - Missense	Endometrium
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Central_nervous_system
COSM937148	c.2429G>A	p.R810H	Substitution - Missense	Endometrium
COSM3458255	c.6145C>T	p.L2049F	Substitution - Missense	Skin
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Central_nervous_system
COSM937189	c.8232G>A	p.Q2744Q	Substitution - coding silent	Skin
COSM3359630	c.5132A>G	p.K1711R	Substitution - Missense	Kidney
COSM107869	c.126C>T	p.F42F	Substitution - coding silent	Skin
COSM1639077	c.7026+10C>T	p.?	Unknown	Stomach
COSM4454394	c.4784A>T	p.Q1595L	Substitution - Missense	Skin
COSM4681146	c.8452C>T	p.P2818S	Substitution - Missense	Large_intestine
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Prostate
COSM937156	c.3325G>C	p.V1109L	Substitution - Missense	Endometrium
COSM1677492	c.6014G>A	p.R2005Q	Substitution - Missense	Large_intestine
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Skin
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Large_intestine
COSM3396062	c.3337A>G	p.S1113G	Substitution - Missense	Prostate
COSM1251234	c.1533G>A	p.P511P	Substitution - coding silent	Oesophagus
COSM253142	c.5989_5990insA	p.N1998fs*4	Insertion - Frameshift	Ovary
COSM1677487	c.2483G>A	p.S828N	Substitution - Missense	Large_intestine
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Kidney
COSM937148	c.2429G>A	p.R810H	Substitution - Missense	Soft_tissue
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Large_intestine
COSM1284746	c.8380C>T	p.Q2794*	Substitution - Nonsense	Autonomic_ganglia
COSM4681136	c.7535C>T	p.P2512L	Substitution - Missense	Large_intestine
COSM5691816	c.8361G>C	p.Q2787H	Substitution - Missense	Soft_tissue
COSM5933034	c.1966C>T	p.P656S	Substitution - Missense	Skin
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Urinary_tract
COSM1289714	c.8181_8182insCAG	p.Q2748_T2749insQ	Insertion - In frame	Large_intestine
COSM1756769	c.6312G>T	p.M2104I	Substitution - Missense	Urinary_tract
COSM5008116	c.122C>A	p.P41H	Substitution - Missense	Large_intestine
COSM5599468	c.5622G>A	p.L1874L	Substitution - coding silent	Skin
COSM692232	c.483C>G	p.L161L	Substitution - coding silent	Lung
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Stomach
COSM3458234	c.3142C>T	p.P1048S	Substitution - Missense	Skin
COSM1718743	c.1296G>A	p.E432E	Substitution - coding silent	Skin
COSM4603312	c.8184_8185insCAG	p.Q2748_T2749insQ	Insertion - In frame	Upper_aerodigestive_tract
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Stomach
COSM1360186	c.8178A>G	p.Q2726Q	Substitution - coding silent	Large_intestine
COSM3986770	c.6128C>T	p.A2043V	Substitution - Missense	Kidney
COSM4593164	c.6637A>C	p.T2213P	Substitution - Missense	Upper_aerodigestive_tract
COSM5827146	c.8209_8210insAGC	p.Q2748_T2749insQ	Insertion - In frame	Large_intestine
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Large_intestine
COSM4832668	c.6991G>A	p.E2331K	Substitution - Missense	Cervix
COSM239713	c.2029G>A	p.G677S	Substitution - Missense	Prostate
COSM5916210	c.5423C>T	p.S1808F	Substitution - Missense	Skin
COSM1476339	c.2580_2582delAGA	p.E862delE	Deletion - In frame	Breast
COSM376614	c.4125T>A	p.S1375S	Substitution - coding silent	Lung
COSM3458243	c.4459C>T	p.P1487S	Substitution - Missense	Skin
COSM1677493	c.7139G>A	p.R2380H	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4528433	c.1537G>A	p.A513T	Substitution - Missense	Skin
COSM937163	c.4873G>A	p.V1625M	Substitution - Missense	Endometrium
COSM4953163	c.5002T>C	p.L1668L	Substitution - coding silent	Liver
COSM3458249	c.5554C>T	p.P1852S	Substitution - Missense	Skin
COSM937180	c.7068C>T	p.I2356I	Substitution - coding silent	Skin
COSM692225	c.4710A>T	p.I1570I	Substitution - coding silent	Lung
COSM2229132	c.4528G>A	p.A1510T	Substitution - Missense	Skin
COSM147636	c.4758A>G	p.P1586P	Substitution - coding silent	Large_intestine
COSM1605809	c.5159T>A	p.V1720D	Substitution - Missense	Liver
COSM280816	c.3560G>A	p.R1187H	Substitution - Missense	Stomach
COSM4146853	c.6646A>C	p.T2216P	Substitution - Missense	Thyroid
COSM1360187	c.8184G>A	p.Q2728Q	Substitution - coding silent	Large_intestine
COSM3954429	c.9120G>A	p.A3040A	Substitution - coding silent	Lung
COSM3739510	c.5668A>G	p.M1890V	Substitution - Missense	Liver
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Central_nervous_system
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1251233	c.8176_8178delCAA	p.Q2748delQ	Deletion - In frame	Oesophagus
COSM4831612	c.2251G>A	p.E751K	Substitution - Missense	Cervix
COSM5695450	c.7709G>T	p.G2570V	Substitution - Missense	Soft_tissue
COSM4681134	c.7164C>A	p.R2388R	Substitution - coding silent	Large_intestine
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Liver
COSM50956	c.8658G>A	p.P2886P	Substitution - coding silent	Large_intestine
COSM2229166	c.5820T>C	p.R1940R	Substitution - coding silent	Large_intestine
COSM4511394	c.8675C>T	p.S2892L	Substitution - Missense	Skin
COSM2229047	c.1425A>G	p.T475T	Substitution - coding silent	Large_intestine
COSM5374665	c.1175T>G	p.F392C	Substitution - Missense	Skin
COSM1205380	c.6851G>A	p.R2284H	Substitution - Missense	Large_intestine
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Skin
COSM5008280	c.3620G>A	p.R1207H	Substitution - Missense	Large_intestine
COSM1476338	c.2494C>T	p.R832W	Substitution - Missense	Breast
COSM4040292	c.7940C>T	p.A2647V	Substitution - Missense	Stomach
COSM3780930	c.6521G>A	p.R2174Q	Substitution - Missense	Pancreas
COSM274976	c.8152C>A	p.L2718I	Substitution - Missense	Large_intestine
COSM3458262	c.7221C>T	p.L2407L	Substitution - coding silent	Skin
COSM1194497	c.7151A>G	p.Q2384R	Substitution - Missense	Lung
COSM160792	c.3869G>C	p.C1290S	Substitution - Missense	Breast
COSM4681132	c.6853G>A	p.A2285T	Substitution - Missense	Large_intestine
COSM5374667	c.2423T>C	p.V808A	Substitution - Missense	Skin
COSM4498343	c.5185C>T	p.P1729S	Substitution - Missense	Skin
COSM1677490	c.4864C>A	p.L1622I	Substitution - Missense	Large_intestine
COSM5811783	c.1333G>T	p.E445*	Substitution - Nonsense	Liver
COSM1756770	c.9365G>A	p.C3122Y	Substitution - Missense	Urinary_tract
COSM4040296	c.8220G>A	p.Q2740Q	Substitution - coding silent	Stomach
COSM223617	c.5090C>T	p.P1697L	Substitution - Missense	Skin
COSM5990324	c.3959A>C	p.N1320T	Substitution - Missense	Liver
COSM4761485	c.5626T>A	p.S1876T	Substitution - Missense	Stomach
COSM5446575	c.8181_8182insGCAGCA	p.Q2727_Q2728insAA	Insertion - In frame	Thyroid
COSM4622495	c.8491G>A	p.A2831T	Substitution - Missense	Large_intestine
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Prostate
COSM692224	c.5823C>A	p.T1941T	Substitution - coding silent	Lung
COSM937158	c.3633C>T	p.I1211I	Substitution - coding silent	Liver
COSM2001160	c.8378C>T	p.P2793L	Substitution - Missense	Large_intestine
COSM1605806	c.97A>C	p.N33H	Substitution - Missense	Upper_aerodigestive_tract
COSM937184	c.7288G>T	p.D2430Y	Substitution - Missense	Endometrium
COSM2229046	c.1412C>T	p.A471V	Substitution - Missense	Stomach
COSM5599468	c.5622G>A	p.L1874L	Substitution - coding silent	Skin
COSM937154	c.2994G>A	p.S998S	Substitution - coding silent	Stomach
COSM937183	c.7227G>A	p.T2409T	Substitution - coding silent	Endometrium
COSM4643675	c.6784G>T	p.A2262S	Substitution - Missense	Large_intestine
COSM2229145	c.5102C>T	p.P1701L	Substitution - Missense	Large_intestine
COSM5547253	c.8983delA	p.K2995fs*59	Deletion - Frameshift	Prostate
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Oesophagus
COSM3792369	c.3972C>T	p.I1324I	Substitution - coding silent	Urinary_tract
COSM1476337	c.1772A>G	p.Q591R	Substitution - Missense	Breast
COSM937151	c.2659G>A	p.A887T	Substitution - Missense	Endometrium
COSM1605808	c.2863G>A	p.E955K	Substitution - Missense	Liver
COSM4040235	c.2220T>G	p.T740T	Substitution - coding silent	Stomach
COSM2001164	c.8431G>C	p.V2811L	Substitution - Missense	Soft_tissue
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Bone
COSM1360186	c.8178A>G	p.Q2726Q	Substitution - coding silent	Large_intestine
COSM4146853	c.6646A>C	p.T2216P	Substitution - Missense	Upper_aerodigestive_tract
COSM3772332	c.6627G>A	p.M2209I	Substitution - Missense	Pancreas
COSM388478	c.4044G>T	p.V1348V	Substitution - coding silent	Lung
COSM4040268	c.4950G>A	p.V1650V	Substitution - coding silent	Stomach
COSM310891	c.2969G>A	p.R990H	Substitution - Missense	Lung
COSM1561753	c.8903G>A	p.G2968D	Substitution - Missense	Large_intestine
COSM4593164	c.6637A>C	p.T2213P	Substitution - Missense	Upper_aerodigestive_tract
COSM5374669	c.2794C>T	p.H932Y	Substitution - Missense	Skin
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Prostate
COSM4950372	c.9143G>T	p.G3048V	Substitution - Missense	Liver
COSM122852	c.169C>G	p.Q57E	Substitution - Missense	Upper_aerodigestive_tract
COSM4681105	c.1638C>T	p.N546N	Substitution - coding silent	Large_intestine
COSM1729052	c.2762A>T	p.E921V	Substitution - Missense	Liver
COSM147634	c.1284G>A	p.E428E	Substitution - coding silent	Stomach
COSM937154	c.2994G>A	p.S998S	Substitution - coding silent	Endometrium
COSM3700235	c.3458A>G	p.N1153S	Substitution - Missense	Liver
COSM692218	c.8652C>T	p.S2884S	Substitution - coding silent	Lung
COSM1756765	c.1836C>T	p.P612P	Substitution - coding silent	Urinary_tract
COSM1205383	c.4184C>G	p.S1395C	Substitution - Missense	Large_intestine
COSM1360183	c.7129C>T	p.R2377*	Substitution - Nonsense	Large_intestine
COSM5825728	c.8205_8206insCAG	p.Q2748_T2749insQ	Insertion - In frame	Large_intestine
COSM4641649	c.4983C>T	p.G1661G	Substitution - coding silent	Large_intestine
COSM1289714	c.8181_8182insCAG	p.Q2748_T2749insQ	Insertion - In frame	Large_intestine
COSM3968096	c.1563G>T	p.P521P	Substitution - coding silent	Central_nervous_system
COSM5743597	c.1711C>A	p.L571I	Substitution - Missense	Small_intestine
COSM3954429	c.9120G>A	p.A3040A	Substitution - coding silent	Large_intestine
COSM70612	c.5813A>C	p.H1938P	Substitution - Missense	Ovary
COSM1251231	c.86_87insG	p.A30fs*35	Insertion - Frameshift	Oesophagus
COSM4575226	c.8414C>T	p.P2805L	Substitution - Missense	Bone
COSM937144	c.1952C>A	p.P651H	Substitution - Missense	Endometrium
COSM937193	c.9192T>C	p.V3064V	Substitution - coding silent	Endometrium
COSM1677490	c.4864C>A	p.L1622I	Substitution - Missense	Large_intestine
COSM1360187	c.8184G>A	p.Q2728Q	Substitution - coding silent	Large_intestine
COSM937190	c.8595G>A	p.M2865I	Substitution - Missense	Endometrium
COSM5654915	c.3783C>T	p.H1261H	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM5478069	c.5951+6G>A	p.?	Unknown	Large_intestine
COSM2229125	c.4421C>T	p.T1474M	Substitution - Missense	Stomach
COSM3780932	c.7775-7T>G	p.?	Unknown	Pancreas
COSM692230	c.2081C>T	p.A694V	Substitution - Missense	Lung
COSM5990324	c.3959A>C	p.N1320T	Substitution - Missense	Liver
COSM468038	c.8229G>A	p.Q2743Q	Substitution - coding silent	Pancreas
COSM937172	c.5935G>T	p.D1979Y	Substitution - Missense	Endometrium
COSM1677489	c.3934G>A	p.A1312T	Substitution - Missense	Large_intestine
COSM1360170	c.2201C>T	p.T734M	Substitution - Missense	Large_intestine
COSM4999866	c.4766C>T	p.P1589L	Substitution - Missense	Pancreas
COSM5374675	c.5134G>A	p.E1712K	Substitution - Missense	Skin
COSM5452801	c.5934A>G	p.K1978K	Substitution - coding silent	Large_intestine
COSM468038	c.8229G>A	p.Q2743Q	Substitution - coding silent	Pancreas
COSM3458241	c.4457C>T	p.A1486V	Substitution - Missense	Skin
COSM2001170	c.8754G>A	p.Q2918Q	Substitution - coding silent	Large_intestine
COSM5701242	c.8182_8183insCAG	p.Q2728>PE	Complex - insertion inframe	Soft_tissue
COSM4040264	c.4765C>T	p.P1589S	Substitution - Missense	Stomach
COSM77650	c.4201C>T	p.R1401W	Substitution - Missense	Ovary
COSM937151	c.2659G>A	p.A887T	Substitution - Missense	Endometrium
COSM3811512	c.7828A>C	p.T2610P	Substitution - Missense	Breast
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Kidney
COSM4681140	c.8202G>A	p.Q2734Q	Substitution - coding silent	Large_intestine
COSM317285	c.6296C>A	p.S2099*	Substitution - Nonsense	Lung
COSM1639078	c.7337+2T>C	p.?	Unknown	Stomach
COSM1677486	c.2453G>A	p.R818H	Substitution - Missense	Ovary
COSM2229096	c.3413G>A	p.S1138N	Substitution - Missense	Upper_aerodigestive_tract
COSM4798543	c.4381G>A	p.A1461T	Substitution - Missense	Liver
COSM3954427	c.6232G>T	p.E2078*	Substitution - Nonsense	Lung
COSM5893658	c.7222C>T	p.R2408C	Substitution - Missense	Skin
COSM50955	c.5142G>A	p.L1714L	Substitution - coding silent	Breast
COSM3732224	c.4069G>A	p.A1357T	Substitution - Missense	Oesophagus
COSM3986772	c.6141G>A	p.V2047V	Substitution - coding silent	Kidney
COSM4040251	c.4282T>C	p.F1428L	Substitution - Missense	Stomach
COSM1360176	c.4880delC	p.Q1630fs*11	Deletion - Frameshift	Large_intestine
COSM1318036	c.1791G>A	p.Q597Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Pancreas
COSM937167	c.5578G>A	p.D1860N	Substitution - Missense	Endometrium
COSM1284747	c.8617G>T	p.A2873S	Substitution - Missense	Autonomic_ganglia
COSM2229068	c.2217A>G	p.I739M	Substitution - Missense	Large_intestine
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Biliary_tract
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Central_nervous_system
COSM5787214	c.5714A>T	p.Y1905F	Substitution - Missense	Breast
COSM404467	c.6466G>C	p.A2156P	Substitution - Missense	Lung
COSM5715228	c.6791G>A	p.G2264D	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4387695	c.9070A>T	p.I3024F	Substitution - Missense	Pancreas
COSM147636	c.4758A>G	p.P1586P	Substitution - coding silent	Thyroid
COSM1289714	c.8181_8182insCAG	p.Q2748_T2749insQ	Insertion - In frame	Stomach
COSM4205139	c.1805C>T	p.P602L	Substitution - Missense	Skin
COSM3396062	c.3337A>G	p.S1113G	Substitution - Missense	Prostate
COSM937174	c.6063+2T>C	p.?	Unknown	Endometrium
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Endometrium
COSM366903	c.8290G>C	p.A2764P	Substitution - Missense	Lung
COSM5760873	c.4468A>C	p.T1490P	Substitution - Missense	Pancreas
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Urinary_tract
COSM937171	c.5846C>T	p.A1949V	Substitution - Missense	Endometrium
COSM1284745	c.2520G>T	p.E840D	Substitution - Missense	Autonomic_ganglia
COSM5374673	c.4763C>T	p.T1588M	Substitution - Missense	Skin
COSM5722091	c.3451G>A	p.E1151K	Substitution - Missense	Skin
COSM937148	c.2429G>A	p.R810H	Substitution - Missense	Large_intestine
COSM4681119	c.3016A>G	p.K1006E	Substitution - Missense	Large_intestine
COSM3811516	c.8973C>A	p.S2991S	Substitution - coding silent	Breast
COSM4603312	c.8184_8185insCAG	p.Q2748_T2749insQ	Insertion - In frame	Upper_aerodigestive_tract
COSM4040287	c.7810G>A	p.A2604T	Substitution - Missense	Stomach
COSM4495283	c.4505C>T	p.P1502L	Substitution - Missense	Skin
COSM5480997	c.8905G>A	p.A2969T	Substitution - Missense	Large_intestine
COSM692225	c.4710A>T	p.I1570I	Substitution - coding silent	Lung
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Prostate
COSM381371	c.3274G>T	p.A1092S	Substitution - Missense	Lung
COSM4040281	c.6546G>A	p.A2182A	Substitution - coding silent	Stomach
COSM3458262	c.7221C>T	p.L2407L	Substitution - coding silent	Skin
COSM3398542	c.5364G>A	p.L1788L	Substitution - coding silent	Central_nervous_system
COSM160793	c.8812G>A	p.V2938I	Substitution - Missense	Breast
COSM300051	c.8457G>A	p.P2819P	Substitution - coding silent	Large_intestine
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Kidney
COSM401400	c.5314_5315GA>TG	p.E1772*	Substitution - Nonsense	Lung
COSM1756768	c.5424C>G	p.S1808S	Substitution - coding silent	Urinary_tract
COSM1360187	c.8184G>A	p.Q2728Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM280817	c.3901G>A	p.E1301K	Substitution - Missense	Large_intestine
COSM1746851	c.7748C>T	p.S2583L	Substitution - Missense	Urinary_tract
COSM280816	c.3560G>A	p.R1187H	Substitution - Missense	Stomach
COSM3458276	c.9154C>T	p.Q3052*	Substitution - Nonsense	Skin
COSM937185	c.7459G>A	p.A2487T	Substitution - Missense	Large_intestine
COSM3688066	c.8612A>G	p.Q2871R	Substitution - Missense	Large_intestine
COSM204011	c.7453C>T	p.R2485*	Substitution - Nonsense	Stomach
COSM4603373	c.8156_8157insGCA	p.Q2748_T2749insQ	Insertion - In frame	Upper_aerodigestive_tract
COSM1360189	c.8214G>A	p.Q2738Q	Substitution - coding silent	Lung
COSM3416634	c.4117G>A	p.D1373N	Substitution - Missense	Large_intestine
COSM1756767	c.4536G>A	p.P1512P	Substitution - coding silent	Urinary_tract
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Liver
COSM4146853	c.6646A>C	p.T2216P	Substitution - Missense	Upper_aerodigestive_tract
COSM4040272	c.5227A>G	p.S1743G	Substitution - Missense	Stomach
COSM4166106	c.5258T>C	p.L1753P	Substitution - Missense	Kidney
COSM356743	c.8223G>A	p.Q2741Q	Substitution - coding silent	Lung
COSM937147	c.2403G>A	p.A801A	Substitution - coding silent	Bone
COSM1492843	c.8959A>G	p.T2987A	Substitution - Missense	Kidney
COSM1511176	c.7527G>C	p.P2509P	Substitution - coding silent	Soft_tissue
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Cervix
COSM5704351	c.2212C>T	p.Q738*	Substitution - Nonsense	Haematopoietic_and_lymphoid_tissue
COSM1605811	c.6366+7G>A	p.?	Unknown	Liver
COSM1677485	c.2177C>T	p.S726L	Substitution - Missense	Lung
COSM468038	c.8229G>A	p.Q2743Q	Substitution - coding silent	Central_nervous_system
COSM937166	c.5496C>T	p.H1832H	Substitution - coding silent	Endometrium
COSM1360187	c.8184G>A	p.Q2728Q	Substitution - coding silent	Large_intestine
COSM365481	c.4351C>T	p.R1451W	Substitution - Missense	Lung
COSM4603312	c.8184_8185insCAG	p.Q2748_T2749insQ	Insertion - In frame	Upper_aerodigestive_tract
COSM3729578	c.5539C>T	p.R1847C	Substitution - Missense	Stomach
COSM4629904	c.6688A>G	p.M2230V	Substitution - Missense	Large_intestine
COSM468038	c.8229G>A	p.Q2743Q	Substitution - coding silent	Kidney
COSM3458239	c.4250C>T	p.P1417L	Substitution - Missense	Skin
COSM4984168	c.7357C>T	p.Q2453*	Substitution - Nonsense	Oesophagus
COSM2229113	c.4047G>A	p.A1349A	Substitution - coding silent	Urinary_tract
COSM3458222	c.2015C>T	p.P672L	Substitution - Missense	Skin
COSM4040243	c.2827+1G>A	p.?	Unknown	Stomach
COSM4040296	c.8220G>A	p.Q2740Q	Substitution - coding silent	Prostate
COSM692217	c.9055A>T	p.T3019S	Substitution - Missense	Lung
COSM937191	c.8925C>T	p.Y2975Y	Substitution - coding silent	Endometrium
COSM4510480	c.8390C>T	p.P2797L	Substitution - Missense	Skin
COSM5749528	c.1162A>T	p.I388F	Substitution - Missense	Genital_tract
COSM1299141	c.1117T>C	p.Y373H	Substitution - Missense	Urinary_tract
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Large_intestine
COSM937182	c.7085C>T	p.T2362I	Substitution - Missense	Endometrium
COSM468038	c.8229G>A	p.Q2743Q	Substitution - coding silent	Prostate
COSM1360186	c.8178A>G	p.Q2726Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1289714	c.8181_8182insCAG	p.Q2748_T2749insQ	Insertion - In frame	Large_intestine
COSM1289714	c.8181_8182insCAG	p.Q2748_T2749insQ	Insertion - In frame	Skin
COSM4146858	c.9280G>A	p.A3094T	Substitution - Missense	Soft_tissue
COSM5456287	c.1452T>A	p.P484P	Substitution - coding silent	Large_intestine
COSM3780930	c.6521G>A	p.R2174Q	Substitution - Missense	Pancreas
COSM1299145	c.8208G>A	p.Q2736Q	Substitution - coding silent	Urinary_tract
COSM386577	c.502G>T	p.G168W	Substitution - Missense	Lung
COSM1756769	c.6312G>T	p.M2104I	Substitution - Missense	Urinary_tract
COSM5825726	c.8203_8204insAGC	p.Q2748_T2749insQ	Insertion - In frame	Large_intestine
COSM1197153	c.7988C>T	p.T2663M	Substitution - Missense	Soft_tissue
COSM3384161	c.8553+1G>A	p.?	Unknown	Pancreas
COSM1605810	c.6224A>G	p.E2075G	Substitution - Missense	Breast
COSM1605809	c.5159T>A	p.V1720D	Substitution - Missense	Liver
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Oesophagus
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Skin
COSM4146853	c.6646A>C	p.T2216P	Substitution - Missense	Upper_aerodigestive_tract
COSM4806471	c.121C>G	p.P41A	Substitution - Missense	Liver
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Endometrium
COSM5820674	c.3373C>A	p.R1125S	Substitution - Missense	Liver
COSM4040270	c.5019C>T	p.G1673G	Substitution - coding silent	Stomach
COSM4953163	c.5002T>C	p.L1668L	Substitution - coding silent	Liver
COSM937151	c.2659G>A	p.A887T	Substitution - Missense	Endometrium
COSM937176	c.6454G>A	p.A2152T	Substitution - Missense	Endometrium
COSM4593164	c.6637A>C	p.T2213P	Substitution - Missense	Upper_aerodigestive_tract
COSM4761483	c.5486T>G	p.L1829R	Substitution - Missense	Stomach
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Central_nervous_system
COSM5727654	c.7991C>T	p.T2664I	Substitution - Missense	Skin
COSM3398538	c.2140C>A	p.P714T	Substitution - Missense	Central_nervous_system
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Urinary_tract
COSM3458228	c.2960G>C	p.R987T	Substitution - Missense	Skin
COSM1721879	c.88_89insC	p.H31fs*34	Insertion - Frameshift	Thyroid
COSM937158	c.3633C>T	p.I1211I	Substitution - coding silent	Liver
COSM4040300	c.8456C>A	p.P2819Q	Substitution - Missense	Stomach
COSM4761488	c.7376C>T	p.A2459V	Substitution - Missense	Stomach
COSM4040237	c.2360C>A	p.A787D	Substitution - Missense	Stomach
COSM4589607	c.8181_8182insCAGCAGCAG	p.Q2748_T2749insQQQ	Insertion - In frame	Thyroid
COSM4603312	c.8184_8185insCAG	p.Q2748_T2749insQ	Insertion - In frame	Upper_aerodigestive_tract
COSM4681117	c.2893delC	p.R966fs*46	Deletion - Frameshift	Large_intestine
COSM5631266	c.1043C>T	p.P348L	Substitution - Missense	Oesophagus
COSM3780928	c.3169G>A	p.D1057N	Substitution - Missense	Pancreas
COSM937142	c.1290G>A	p.E430E	Substitution - coding silent	Endometrium
COSM3792367	c.134C>T	p.S45L	Substitution - Missense	Urinary_tract
COSM4909786	c.5292G>T	p.A1764A	Substitution - coding silent	Liver
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Central_nervous_system
COSM5051454	c.86_87insGG	p.A30fs*33	Insertion - Frameshift	Stomach
COSM4681121	c.4021C>G	p.R1341G	Substitution - Missense	Large_intestine
COSM1299144	c.8205G>A	p.Q2735Q	Substitution - coding silent	Large_intestine
COSM4556396	c.6903G>A	p.K2301K	Substitution - coding silent	Skin
COSM5922961	c.9250C>T	p.P3084S	Substitution - Missense	Skin
COSM468038	c.8229G>A	p.Q2743Q	Substitution - coding silent	Oesophagus
COSM1677489	c.3934G>A	p.A1312T	Substitution - Missense	Large_intestine
COSM937140	c.1027G>A	p.G343R	Substitution - Missense	Endometrium
COSM5776232	c.5071G>A	p.A1691T	Substitution - Missense	Breast
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Liver
COSM1289714	c.8181_8182insCAG	p.Q2748_T2749insQ	Insertion - In frame	Large_intestine
COSM5639577	c.8688C>T	p.T2896T	Substitution - coding silent	Oesophagus
COSM108860	c.5321C>T	p.P1774L	Substitution - Missense	Skin
COSM692220	c.8434C>T	p.Q2812*	Substitution - Nonsense	Lung
COSM3398546	c.6221T>A	p.I2074N	Substitution - Missense	Central_nervous_system
COSM3931579	c.732C>T	p.A244A	Substitution - coding silent	Urinary_tract
COSM4681099	c.1190A>C	p.Q397P	Substitution - Missense	Large_intestine
COSM50955	c.5142G>A	p.L1714L	Substitution - coding silent	Breast
COSM3871118	c.1623G>C	p.G541G	Substitution - coding silent	Skin
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Large_intestine
COSM937137	c.247G>A	p.V83I	Substitution - Missense	Endometrium
COSM5575808	c.2639T>C	p.L880S	Substitution - Missense	Stomach
COSM937153	c.2819C>A	p.A940D	Substitution - Missense	Endometrium
COSM280815	c.1224G>T	p.K408N	Substitution - Missense	Large_intestine
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Urinary_tract
COSM1360172	c.2635G>C	p.E879Q	Substitution - Missense	Large_intestine
COSM4040229	c.1269G>A	p.L423L	Substitution - coding silent	Stomach
COSM4809170	c.7486C>G	p.Q2496E	Substitution - Missense	Pancreas
COSM4495817	c.4616C>T	p.P1539L	Substitution - Missense	Skin
COSM468038	c.8229G>A	p.Q2743Q	Substitution - coding silent	Kidney
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Prostate
COSM3688060	c.1674C>T	p.P558P	Substitution - coding silent	Large_intestine
COSM302138	c.8703C>T	p.N2901N	Substitution - coding silent	Central_nervous_system
COSM937145	c.2080G>A	p.A694T	Substitution - Missense	Endometrium
COSM5041639	c.6431A>T	p.E2144V	Substitution - Missense	Liver
COSM468038	c.8229G>A	p.Q2743Q	Substitution - coding silent	Skin
COSM937178	c.6877C>T	p.R2293C	Substitution - Missense	Skin
COSM937164	c.5089C>G	p.P1697A	Substitution - Missense	Endometrium
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Liver
COSM4593164	c.6637A>C	p.T2213P	Substitution - Missense	Upper_aerodigestive_tract
COSM4794805	c.5632G>A	p.G1878R	Substitution - Missense	Liver
COSM5560187	c.288C>T	p.L96L	Substitution - coding silent	Prostate
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Prostate
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Prostate
COSM5888157	c.2452C>T	p.R818C	Substitution - Missense	Upper_aerodigestive_tract
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Large_intestine
COSM4146853	c.6646A>C	p.T2216P	Substitution - Missense	Upper_aerodigestive_tract
COSM4146853	c.6646A>C	p.T2216P	Substitution - Missense	Upper_aerodigestive_tract
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Kidney
COSM1205381	c.7856C>T	p.A2619V	Substitution - Missense	Large_intestine
COSM3688062	c.4976C>T	p.P1659L	Substitution - Missense	Large_intestine
COSM5493066	c.6606C>T	p.V2202V	Substitution - coding silent	Biliary_tract
COSM5618736	c.3117C>G	p.V1039V	Substitution - coding silent	Breast
COSM1360186	c.8178A>G	p.Q2726Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Skin
COSM1677490	c.4864C>A	p.L1622I	Substitution - Missense	Large_intestine
COSM4445872	c.2409+3G>A	p.?	Unknown	Skin
COSM4798543	c.4381G>A	p.A1461T	Substitution - Missense	Liver
COSM5009850	c.9234G>A	p.S3078S	Substitution - coding silent	Large_intestine
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM937177	c.6563C>T	p.T2188M	Substitution - Missense	Endometrium
COSM5970604	c.9201A>G	p.K3067K	Substitution - coding silent	Upper_aerodigestive_tract
COSM1511176	c.7527G>C	p.P2509P	Substitution - coding silent	Soft_tissue
COSM3359628	c.4463T>C	p.F1488S	Substitution - Missense	Kidney
COSM3376183	c.5065G>A	p.G1689R	Substitution - Missense	Pancreas
COSM1251237	c.6977G>A	p.G2326D	Substitution - Missense	Stomach
COSM4146853	c.6646A>C	p.T2216P	Substitution - Missense	Upper_aerodigestive_tract
COSM1205380	c.6851G>A	p.R2284H	Substitution - Missense	Large_intestine
COSM1756770	c.9365G>A	p.C3122Y	Substitution - Missense	Urinary_tract
COSM937169	c.5752C>T	p.Q1918*	Substitution - Nonsense	Endometrium
COSM1605806	c.97A>C	p.N33H	Substitution - Missense	Liver
COSM320132	c.8156G>A	p.R2719K	Substitution - Missense	Lung
COSM5893656	c.8993G>A	p.G2998E	Substitution - Missense	Skin
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Oesophagus
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Large_intestine
COSM4761491	c.8548C>T	p.R2850W	Substitution - Missense	Stomach
COSM363080	c.7317G>T	p.R2439S	Substitution - Missense	Lung
COSM937157	c.3374G>A	p.R1125H	Substitution - Missense	Endometrium
COSM1205382	c.2743G>A	p.D915N	Substitution - Missense	Large_intestine
COSM3986764	c.2246T>A	p.I749N	Substitution - Missense	Kidney
COSM5668995	c.3562G>A	p.V1188M	Substitution - Missense	Soft_tissue
COSM1289714	c.8181_8182insCAG	p.Q2748_T2749insQ	Insertion - In frame	Large_intestine
COSM4990215	c.8273C>T	p.P2758L	Substitution - Missense	Skin
COSM1360188	c.8187G>A	p.Q2729Q	Substitution - coding silent	Liver
COSM2001167	c.8583G>A	p.A2861A	Substitution - coding silent	Large_intestine
COSM4550241	c.4964G>A	p.G1655E	Substitution - Missense	Skin
COSM1360187	c.8184G>A	p.Q2728Q	Substitution - coding silent	Large_intestine
COSM79789	c.3450C>T	p.A1150A	Substitution - coding silent	Ovary
COSM4146853	c.6646A>C	p.T2216P	Substitution - Missense	Upper_aerodigestive_tract
COSM3398544	c.5675A>G	p.D1892G	Substitution - Missense	Central_nervous_system
COSM4603312	c.8184_8185insCAG	p.Q2748_T2749insQ	Insertion - In frame	Upper_aerodigestive_tract
COSM2229122	c.4311C>T	p.P1437P	Substitution - coding silent	Stomach
COSM5018698	c.452_453delGT	p.A152fs*111	Deletion - Frameshift	Soft_tissue
COSM3968098	c.1740G>A	p.Q580Q	Substitution - coding silent	Central_nervous_system
COSM3458274	c.8829C>T	p.A2943A	Substitution - coding silent	Skin
COSM3871124	c.6737C>T	p.P2246L	Substitution - Missense	Skin
COSM430757	c.6660C>T	p.D2220D	Substitution - coding silent	Stomach
COSM3687863	c.3872G>A	p.R1291H	Substitution - Missense	Large_intestine
COSM5920404	c.5398C>T	p.P1800S	Substitution - Missense	Skin
COSM1605808	c.2863G>A	p.E955K	Substitution - Missense	Liver
COSM4040304	c.8757C>A	p.T2919T	Substitution - coding silent	Stomach
COSM1360189	c.8214G>A	p.Q2738Q	Substitution - coding silent	Large_intestine
COSM3782708	c.4171G>A	p.A1391T	Substitution - Missense	Prostate
COSM3811502	c.4387C>T	p.Q1463*	Substitution - Nonsense	Breast
COSM4525549	c.1338G>T	p.Q446H	Substitution - Missense	Skin
COSM4853854	c.483C>T	p.L161L	Substitution - coding silent	Cervix
COSM310890	c.5789delT	p.C1932fs*13	Deletion - Frameshift	Lung
COSM4470638	c.1673C>T	p.P558L	Substitution - Missense	Skin
COSM937160	c.3961G>A	p.V1321I	Substitution - Missense	Endometrium
COSM1723965	c.554C>T	p.S185F	Substitution - Missense	Skin
COSM1360187	c.8184G>A	p.Q2728Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM1289714	c.8181_8182insCAG	p.Q2748_T2749insQ	Insertion - In frame	Large_intestine
COSM5361234	c.691delG	p.G232fs*82	Deletion - Frameshift	Large_intestine
COSM692216	c.9086C>G	p.S3029C	Substitution - Missense	Lung
COSM1706466	c.3719C>T	p.S1240F	Substitution - Missense	Skin
COSM5000391	c.8641C>T	p.P2881S	Substitution - Missense	Pancreas
COSM4408138	c.5393T>A	p.V1798E	Substitution - Missense	Oesophagus
COSM468038	c.8229G>A	p.Q2743Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Central_nervous_system
COSM4146853	c.6646A>C	p.T2216P	Substitution - Missense	Upper_aerodigestive_tract
COSM5557829	c.6770A>G	p.K2257R	Substitution - Missense	Prostate
COSM4429366	c.1931_1932insT	p.M644fs*47	Insertion - Frameshift	Oesophagus
COSM4040302	c.8746G>A	p.A2916T	Substitution - Missense	Stomach
COSM4040298	c.8252C>T	p.T2751M	Substitution - Missense	Stomach
COSM3458257	c.6678C>T	p.L2226L	Substitution - coding silent	Skin
COSM5018671	c.1282_1284delGAG	p.E437delE	Deletion - In frame	Soft_tissue
COSM4040261	c.4489G>A	p.A1497T	Substitution - Missense	Stomach
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Pancreas
COSM1718743	c.1296G>A	p.E432E	Substitution - coding silent	Bone
COSM4681148	c.9235G>A	p.A3079T	Substitution - Missense	Large_intestine
COSM3792372	c.4198C>T	p.P1400S	Substitution - Missense	Urinary_tract
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Kidney
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Skin
COSM1360173	c.3276delT	p.F1094fs*4	Deletion - Frameshift	Soft_tissue
COSM4806471	c.121C>G	p.P41A	Substitution - Missense	Liver
COSM5012637	c.298A>T	p.T100S	Substitution - Missense	Kidney
COSM1628460	c.1404G>A	p.R468R	Substitution - coding silent	Liver
COSM4603312	c.8184_8185insCAG	p.Q2748_T2749insQ	Insertion - In frame	Upper_aerodigestive_tract
COSM5493062	c.5749C>T	p.R1917W	Substitution - Missense	Biliary_tract
COSM5661443	c.3097delC	p.P1033fs*65	Deletion - Frameshift	Soft_tissue
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Prostate
COSM320133	c.4591C>T	p.Q1531*	Substitution - Nonsense	Lung
COSM937187	c.7859C>T	p.S2620L	Substitution - Missense	Prostate
COSM1289714	c.8181_8182insCAG	p.Q2748_T2749insQ	Insertion - In frame	Large_intestine
COSM1360174	c.3964C>A	p.L1322M	Substitution - Missense	Large_intestine
COSM4511619	c.874C>T	p.L292L	Substitution - coding silent	Skin
COSM937189	c.8232G>A	p.Q2744Q	Substitution - coding silent	Thyroid
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Central_nervous_system
COSM2229155	c.5303C>A	p.T1768N	Substitution - Missense	Large_intestine
COSM5671020	c.271C>G	p.L91V	Substitution - Missense	Soft_tissue
COSM5590766	c.2111C>T	p.S704F	Substitution - Missense	Skin
COSM4205139	c.1805C>T	p.P602L	Substitution - Missense	Large_intestine
COSM3458230	c.2986A>T	p.I996F	Substitution - Missense	Skin
COSM4821322	c.169C>T	p.Q57*	Substitution - Nonsense	Cervix
COSM937149	c.2516G>A	p.R839Q	Substitution - Missense	Endometrium
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Prostate
COSM5008177	c.11G>A	p.G4D	Substitution - Missense	Large_intestine
COSM2001150	c.7877C>T	p.A2626V	Substitution - Missense	Large_intestine
COSM2229068	c.2217A>G	p.I739M	Substitution - Missense	Large_intestine
COSM937155	c.3025G>A	p.E1009K	Substitution - Missense	Endometrium
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Prostate
COSM1360184	c.7872T>C	p.P2624P	Substitution - coding silent	Stomach
COSM320132	c.8156G>A	p.R2719K	Substitution - Missense	Lung
COSM4681103	c.1503C>T	p.D501D	Substitution - coding silent	Large_intestine
COSM937185	c.7459G>A	p.A2487T	Substitution - Missense	Endometrium
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Kidney
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Prostate
COSM231302	c.4246C>T	p.R1416*	Substitution - Nonsense	Skin
COSM4681115	c.2735A>C	p.E912A	Substitution - Missense	Large_intestine
COSM1205378	c.1619C>T	p.T540M	Substitution - Missense	Large_intestine
COSM4681138	c.7958C>T	p.T2653M	Substitution - Missense	Large_intestine
COSM5840565	c.7352C>T	p.P2451L	Substitution - Missense	Skin
COSM4545744	c.3853G>A	p.E1285K	Substitution - Missense	Skin
COSM325257	c.2455G>T	p.E819*	Substitution - Nonsense	Lung
COSM204013	c.8653G>A	p.V2885I	Substitution - Missense	Central_nervous_system
COSM1289714	c.8181_8182insCAG	p.Q2748_T2749insQ	Insertion - In frame	Upper_aerodigestive_tract
COSM692221	c.7416G>A	p.P2472P	Substitution - coding silent	Lung
COSM4622495	c.8491G>A	p.A2831T	Substitution - Missense	Large_intestine
COSM468038	c.8229G>A	p.Q2743Q	Substitution - coding silent	Prostate
COSM937147	c.2403G>A	p.A801A	Substitution - coding silent	Endometrium
COSM5663243	c.2926G>T	p.G976*	Substitution - Nonsense	Soft_tissue
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Skin
COSM1299143	c.8199G>A	p.Q2733Q	Substitution - coding silent	Urinary_tract
COSM1360187	c.8184G>A	p.Q2728Q	Substitution - coding silent	Stomach
COSM4795709	c.5219C>T	p.A1740V	Substitution - Missense	Liver
COSM5599468	c.5622G>A	p.L1874L	Substitution - coding silent	Skin
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Skin
COSM692219	c.8607A>C	p.A2869A	Substitution - coding silent	Lung
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Kidney
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Prostate
COSM937151	c.2659G>A	p.A887T	Substitution - Missense	Large_intestine
COSM4146853	c.6646A>C	p.T2216P	Substitution - Missense	Upper_aerodigestive_tract
COSM147635	c.3099G>A	p.P1033P	Substitution - coding silent	Stomach
COSM204013	c.8653G>A	p.V2885I	Substitution - Missense	Stomach
COSM937162	c.4247G>A	p.R1416Q	Substitution - Missense	Endometrium
COSM1251235	c.183G>T	p.L61L	Substitution - coding silent	Stomach
COSM4681125	c.5249G>A	p.R1750H	Substitution - Missense	Large_intestine
COSM310890	c.5789delT	p.C1932fs*13	Deletion - Frameshift	Soft_tissue
COSM1605806	c.97A>C	p.N33H	Substitution - Missense	Upper_aerodigestive_tract
COSM365481	c.4351C>T	p.R1451W	Substitution - Missense	Endometrium
COSM386577	c.502G>T	p.G168W	Substitution - Missense	Stomach
COSM468038	c.8229G>A	p.Q2743Q	Substitution - coding silent	Biliary_tract
COSM468038	c.8229G>A	p.Q2743Q	Substitution - coding silent	Prostate
COSM4681111	c.2391G>A	p.K797K	Substitution - coding silent	Large_intestine
COSM937138	c.869G>T	p.R290L	Substitution - Missense	Endometrium
COSM280816	c.3560G>A	p.R1187H	Substitution - Missense	Large_intestine
COSM5469926	c.2515C>T	p.R839W	Substitution - Missense	Large_intestine
COSM1360186	c.8178A>G	p.Q2726Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM937173	c.6046A>G	p.M2016V	Substitution - Missense	Endometrium
COSM4880289	c.2413G>A	p.V805I	Substitution - Missense	Stomach
COSM1299142	c.4004C>T	p.P1335L	Substitution - Missense	Urinary_tract
COSM1360186	c.8178A>G	p.Q2726Q	Substitution - coding silent	Thyroid
COSM1360194	c.8785C>T	p.Q2929*	Substitution - Nonsense	Large_intestine
COSM4040231	c.1375A>C	p.S459R	Substitution - Missense	Stomach
COSM1756766	c.3426C>T	p.L1142L	Substitution - coding silent	Urinary_tract
COSM4459551	c.112C>T	p.P38S	Substitution - Missense	Skin
COSM4603373	c.8156_8157insGCA	p.Q2748_T2749insQ	Insertion - In frame	Large_intestine
COSM3376183	c.5065G>A	p.G1689R	Substitution - Missense	Large_intestine
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Oesophagus
COSM3871122	c.2042C>T	p.S681F	Substitution - Missense	Skin
COSM5827142	c.8181_8182insCAGCAG	p.Q2748_T2749insQQ	Insertion - In frame	Upper_aerodigestive_tract
COSM5051456	c.511G>A	p.V171M	Substitution - Missense	Stomach
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Prostate
COSM4794805	c.5632G>A	p.G1878R	Substitution - Missense	Liver
COSM3986766	c.2248G>C	p.A750P	Substitution - Missense	Kidney
COSM4420548	c.8196G>A	p.Q2732Q	Substitution - coding silent	Central_nervous_system
COSM1299146	c.8284G>A	p.G2762S	Substitution - Missense	Urinary_tract
COSM6019035	c.1435+2T>G	p.?	Unknown	Skin
COSM5893658	c.7222C>T	p.R2408C	Substitution - Missense	Skin
COSM4400543	c.7979C>T	p.S2660F	Substitution - Missense	Skin
COSM5493064	c.5818C>T	p.R1940C	Substitution - Missense	Biliary_tract
COSM4497488	c.4980C>T	p.A1660A	Substitution - coding silent	Skin
COSM1360186	c.8178A>G	p.Q2726Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM139981	c.160C>T	p.P54S	Substitution - Missense	Skin
COSM356742	c.5248C>T	p.R1750C	Substitution - Missense	Large_intestine
COSM2229149	c.5163C>T	p.N1721N	Substitution - coding silent	Large_intestine
COSM5613515	c.9021G>C	p.Q3007H	Substitution - Missense	Lung
COSM4603312	c.8184_8185insCAG	p.Q2748_T2749insQ	Insertion - In frame	Upper_aerodigestive_tract
COSM1289714	c.8181_8182insCAG	p.Q2748_T2749insQ	Insertion - In frame	Skin
COSM4040284	c.7261C>T	p.H2421Y	Substitution - Missense	Stomach
COSM5683541	c.8585A>T	p.Q2862L	Substitution - Missense	Soft_tissue
COSM5051458	c.3594G>A	p.A1198A	Substitution - coding silent	Stomach
COSM266462	c.7016C>T	p.A2339V	Substitution - Missense	Large_intestine
COSM5009546	c.4475A>G	p.Q1492R	Substitution - Missense	Large_intestine
COSM4146847	c.4053A>T	p.P1351P	Substitution - coding silent	Thyroid
COSM1289714	c.8181_8182insCAG	p.Q2748_T2749insQ	Insertion - In frame	Large_intestine
COSM1639078	c.7337+2T>C	p.?	Unknown	Stomach
COSM204006	c.4746C>T	p.R1582R	Substitution - coding silent	Stomach
COSM1756766	c.3426C>T	p.L1142L	Substitution - coding silent	Lung
COSM4957883	c.7683G>A	p.A2561A	Substitution - coding silent	Liver
COSM937151	c.2659G>A	p.A887T	Substitution - Missense	Large_intestine
COSM244265	c.6119C>T	p.P2040L	Substitution - Missense	Large_intestine
COSM4978996	c.5577C>G	p.F1859L	Substitution - Missense	Oesophagus
COSM2001150	c.7877C>T	p.A2626V	Substitution - Missense	Large_intestine
COSM4603312	c.8184_8185insCAG	p.Q2748_T2749insQ	Insertion - In frame	Upper_aerodigestive_tract
COSM1628460	c.1404G>A	p.R468R	Substitution - coding silent	Liver
COSM222263	c.1960C>T	p.P654S	Substitution - Missense	Skin
COSM4146853	c.6646A>C	p.T2216P	Substitution - Missense	Upper_aerodigestive_tract
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Oesophagus
COSM310891	c.2969G>A	p.R990H	Substitution - Missense	Soft_tissue
COSM1605811	c.6366+7G>A	p.?	Unknown	Liver
COSM3753060	c.7905C>T	p.P2635P	Substitution - coding silent	Large_intestine
COSM5634482	c.5635C>T	p.R1879C	Substitution - Missense	Oesophagus
COSM1360183	c.7129C>T	p.R2377*	Substitution - Nonsense	Large_intestine
COSM937187	c.7859C>T	p.S2620L	Substitution - Missense	Endometrium
COSM5009237	c.6934G>A	p.A2312T	Substitution - Missense	Large_intestine
COSM375390	c.5923G>A	p.G1975R	Substitution - Missense	Lung
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Endometrium
COSM937178	c.6877C>T	p.R2293C	Substitution - Missense	Endometrium
COSM1360187	c.8184G>A	p.Q2728Q	Substitution - coding silent	Large_intestine
COSM3753058	c.7137C>T	p.Y2379Y	Substitution - coding silent	Large_intestine
COSM4603373	c.8156_8157insGCA	p.Q2748_T2749insQ	Insertion - In frame	Haematopoietic_and_lymphoid_tissue
COSM459606	c.6713C>T	p.P2238L	Substitution - Missense	Cervix
COSM4424470	c.4141G>A	p.G1381S	Substitution - Missense	Oesophagus
COSM937152	c.2766G>T	p.E922D	Substitution - Missense	Endometrium
COSM1677488	c.3301G>A	p.E1101K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM4761493	c.9173C>T	p.T3058I	Substitution - Missense	Stomach
COSM1605810	c.6224A>G	p.E2075G	Substitution - Missense	Liver
COSM1677487	c.2483G>A	p.S828N	Substitution - Missense	Large_intestine
COSM5374677	c.9090T>C	p.A3030A	Substitution - coding silent	Skin
COSM1579628	c.4447+7T>C	p.?	Unknown	Haematopoietic_and_lymphoid_tissue
COSM1205377	c.8456C>T	p.P2819L	Substitution - Missense	Large_intestine
COSM4603373	c.8156_8157insGCA	p.Q2748_T2749insQ	Insertion - In frame	Large_intestine
COSM1360182	c.7017G>A	p.A2339A	Substitution - coding silent	Large_intestine
COSM692227	c.4021C>T	p.R1341W	Substitution - Missense	Lung
COSM4510558	c.8411C>T	p.P2804L	Substitution - Missense	Skin
COSM1677494	c.8756C>T	p.T2919I	Substitution - Missense	Breast
COSM3458226	c.2950C>T	p.P984S	Substitution - Missense	Skin
COSM4593164	c.6637A>C	p.T2213P	Substitution - Missense	Upper_aerodigestive_tract
COSM4146851	c.6582C>A	p.S2194R	Substitution - Missense	Thyroid
COSM244265	c.6119C>T	p.P2040L	Substitution - Missense	Prostate
COSM2001154	c.7947C>T	p.G2649G	Substitution - coding silent	Large_intestine
COSM1251232	c.8176_8181delCAACAA	p.Q2747_Q2748delQQ	Deletion - In frame	Oesophagus
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Central_nervous_system
COSM2001122	c.6628C>A	p.P2210T	Substitution - Missense	Upper_aerodigestive_tract
COSM5909223	c.4418C>T	p.A1473V	Substitution - Missense	Skin
COSM5827144	c.8182_8184delCAG	p.Q2748delQ	Deletion - In frame	Large_intestine
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Prostate
COSM4186157	c.1929G>T	p.Q643H	Substitution - Missense	Kidney
COSM5952634	c.3468C>T	p.H1156H	Substitution - coding silent	Oesophagus
COSM5770075	c.9216G>T	p.Q3072H	Substitution - Missense	Breast
COSM4952066	c.8812G>C	p.V2938L	Substitution - Missense	Liver
COSM5009916	c.1347C>T	p.L449L	Substitution - coding silent	Large_intestine
COSM4681123	c.4319G>A	p.R1440H	Substitution - Missense	Large_intestine
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Stomach
COSM3458236	c.3316C>T	p.P1106S	Substitution - Missense	Skin
COSM1360186	c.8178A>G	p.Q2726Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM4146853	c.6646A>C	p.T2216P	Substitution - Missense	Upper_aerodigestive_tract
COSM5008118	c.4022G>A	p.R1341Q	Substitution - Missense	Stomach
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Endometrium
COSM3416638	c.6432A>C	p.E2144D	Substitution - Missense	Large_intestine
COSM1706467	c.8854_8855CC>TT	p.P2952L	Substitution - Missense	Skin
COSM3811504	c.4761G>A	p.E1587E	Substitution - coding silent	Breast
COSM4040277	c.5483G>A	p.G1828D	Substitution - Missense	Stomach
COSM3458245	c.4872C>T	p.I1624I	Substitution - coding silent	Skin
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Large_intestine
COSM5010099	c.9233C>T	p.S3078L	Substitution - Missense	Large_intestine
COSM1360186	c.8178A>G	p.Q2726Q	Substitution - coding silent	Large_intestine
COSM4040241	c.2600C>T	p.A867V	Substitution - Missense	Stomach
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Thyroid
COSM4399468	c.2505C>T	p.A835A	Substitution - coding silent	Skin
COSM3458220	c.1687C>T	p.P563S	Substitution - Missense	Skin
COSM4603373	c.8156_8157insGCA	p.Q2748_T2749insQ	Insertion - In frame	Upper_aerodigestive_tract
COSM1360186	c.8178A>G	p.Q2726Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM5515518	c.4168G>A	p.E1390K	Substitution - Missense	Biliary_tract
COSM415946	c.2613G>T	p.Q871H	Substitution - Missense	Urinary_tract
COSM356742	c.5248C>T	p.R1750C	Substitution - Missense	Large_intestine
COSM937191	c.8925C>T	p.Y2975Y	Substitution - coding silent	Oesophagus
COSM3792374	c.6120G>A	p.P2040P	Substitution - coding silent	Urinary_tract
COSM5812577	c.5873A>T	p.D1958V	Substitution - Missense	Liver
COSM1476340	c.9363G>A	p.P3121P	Substitution - coding silent	Breast
COSM3811506	c.5445A>C	p.P1815P	Substitution - coding silent	Breast
COSM5970600	c.5529C>A	p.T1843T	Substitution - coding silent	Upper_aerodigestive_tract
COSM1511174	c.8260C>T	p.Q2754*	Substitution - Nonsense	Breast
COSM4593164	c.6637A>C	p.T2213P	Substitution - Missense	Upper_aerodigestive_tract
COSM1677492	c.6014G>A	p.R2005Q	Substitution - Missense	Large_intestine
COSM3416640	c.7849C>T	p.R2617C	Substitution - Missense	Large_intestine
COSM3376181	c.2985C>T	p.L995L	Substitution - coding silent	Pancreas
COSM3792374	c.6120G>A	p.P2040P	Substitution - coding silent	Biliary_tract
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Prostate
COSM1706466	c.3719C>T	p.S1240F	Substitution - Missense	Skin
COSM3980927	c.5767A>T	p.S1923C	Substitution - Missense	Ovary
COSM2229055	c.1818G>A	p.P606P	Substitution - coding silent	Breast
COSM1733132	c.6650C>T	p.P2217L	Substitution - Missense	Pancreas
COSM3398540	c.3095T>G	p.L1032R	Substitution - Missense	Central_nervous_system
COSM4403325	c.1686C>T	p.P562P	Substitution - coding silent	Skin
COSM4146853	c.6646A>C	p.T2216P	Substitution - Missense	Upper_aerodigestive_tract
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Kidney
COSM3458224	c.2112C>T	p.S704S	Substitution - coding silent	Skin
COSM4616445	c.4229C>T	p.S1410L	Substitution - Missense	Large_intestine
COSM5937538	c.7096G>T	p.D2366Y	Substitution - Missense	Skin
COSM937188	c.8152C>T	p.L2718F	Substitution - Missense	Endometrium
COSM3359626	c.2142C>A	p.P714P	Substitution - coding silent	Kidney
COSM937175	c.6314C>T	p.P2105L	Substitution - Missense	Endometrium
COSM415945	c.2985C>G	p.L995L	Substitution - coding silent	Urinary_tract
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Kidney
COSM2229163	c.5561T>C	p.L1854P	Substitution - Missense	Large_intestine
COSM4518337	c.6098_6099CC>TT	p.P2033L	Substitution - Missense	Skin
COSM5893656	c.8993G>A	p.G2998E	Substitution - Missense	Skin
COSM4040249	c.3927T>C	p.T1309T	Substitution - coding silent	Stomach
COSM937178	c.6877C>T	p.R2293C	Substitution - Missense	Endometrium
COSM1360186	c.8178A>G	p.Q2726Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM692226	c.4042G>C	p.V1348L	Substitution - Missense	Lung
COSM3458232	c.2988C>T	p.I996I	Substitution - coding silent	Skin
COSM404319	c.7473+1G>T	p.?	Unknown	Lung
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Prostate
COSM5827142	c.8181_8182insCAGCAG	p.Q2748_T2749insQQ	Insertion - In frame	Large_intestine
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Skin
COSM1746851	c.7748C>T	p.S2583L	Substitution - Missense	Urinary_tract
COSM1756765	c.1836C>T	p.P612P	Substitution - coding silent	Urinary_tract
COSM4938865	c.6356T>C	p.F2119S	Substitution - Missense	Liver
COSM4040266	c.4767G>A	p.P1589P	Substitution - coding silent	Stomach
COSM468038	c.8229G>A	p.Q2743Q	Substitution - coding silent	Thyroid
COSM4681107	c.1732G>A	p.A578T	Substitution - Missense	Large_intestine
COSM4040256	c.4400G>A	p.R1467Q	Substitution - Missense	Urinary_tract
COSM1360186	c.8178A>G	p.Q2726Q	Substitution - coding silent	Haematopoietic_and_lymphoid_tissue
COSM430755	c.3646C>T	p.H1216Y	Substitution - Missense	Breast
COSM4603373	c.8156_8157insGCA	p.Q2748_T2749insQ	Insertion - In frame	Upper_aerodigestive_tract
COSM1322642	c.4275C>T	p.S1425S	Substitution - coding silent	Ovary
COSM2229055	c.1818G>A	p.P606P	Substitution - coding silent	Large_intestine
COSM937143	c.1722G>A	p.A574A	Substitution - coding silent	Endometrium
COSM2229100	c.3596T>A	p.V1199D	Substitution - Missense	Bone
COSM1677489	c.3934G>A	p.A1312T	Substitution - Missense	Large_intestine
COSM4525762	c.1351G>A	p.G451R	Substitution - Missense	Skin
COSM1677490	c.4864C>A	p.L1622I	Substitution - Missense	Large_intestine
COSM4801888	c.9135G>T	p.T3045T	Substitution - coding silent	Liver
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Prostate
COSM356743	c.8223G>A	p.Q2741Q	Substitution - coding silent	Large_intestine
COSM4040294	c.8046C>T	p.N2682N	Substitution - coding silent	Stomach
COSM1677488	c.3301G>A	p.E1101K	Substitution - Missense	Skin
COSM204002	c.2989G>A	p.D997N	Substitution - Missense	Large_intestine
COSM1251238	c.4162C>T	p.R1388C	Substitution - Missense	Oesophagus
COSM937179	c.6926T>C	p.V2309A	Substitution - Missense	Endometrium
COSM1605805	c.92A>C	p.H31P	Substitution - Missense	Liver
COSM4040306	c.9044T>C	p.V3015A	Substitution - Missense	Stomach
COSM3458247	c.5073C>T	p.A1691A	Substitution - coding silent	Skin
COSM5704353	c.6881G>A	p.R2294K	Substitution - Missense	Haematopoietic_and_lymphoid_tissue
COSM3739512	c.7071G>A	p.V2357V	Substitution - coding silent	Liver
COSM5722091	c.3451G>A	p.E1151K	Substitution - Missense	Skin
COSM5832010	c.8761_8762insT	p.A2922fs*61	Insertion - Frameshift	Breast
COSM937146	c.2285G>A	p.R762H	Substitution - Missense	Endometrium
COSM4603373	c.8156_8157insGCA	p.Q2748_T2749insQ	Insertion - In frame	Large_intestine
COSM5516649	c.6896_6898delAGA	p.K2301delK	Deletion - In frame	Biliary_tract
COSM3458253	c.6045C>T	p.S2015S	Substitution - coding silent	Skin
COSM4901200	c.5835C>T	p.N1945N	Substitution - coding silent	Skin
COSM4903351	c.8918T>C	p.V2973A	Substitution - Missense	Skin
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Central_nervous_system
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Large_intestine
COSM4386736	c.7521A>C	p.P2507P	Substitution - coding silent	Lung
COSM4795709	c.5219C>T	p.A1740V	Substitution - Missense	Liver
COSM468038	c.8229G>A	p.Q2743Q	Substitution - coding silent	Prostate
COSM937158	c.3633C>T	p.I1211I	Substitution - coding silent	Endometrium
COSM4146853	c.6646A>C	p.T2216P	Substitution - Missense	Upper_aerodigestive_tract
COSM1360187	c.8184G>A	p.Q2728Q	Substitution - coding silent	Large_intestine
COSM3458270	c.8677C>T	p.P2893S	Substitution - Missense	Skin
COSM3458259	c.6753G>A	p.K2251K	Substitution - coding silent	Skin
COSM3688064	c.7082A>T	p.H2361L	Substitution - Missense	Large_intestine
COSM5940259	c.4063C>T	p.P1355S	Substitution - Missense	Skin
COSM1360180	c.5216G>A	p.C1739Y	Substitution - Missense	Large_intestine
COSM5758717	c.6029A>T	p.Q2010L	Substitution - Missense	Bone
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Thyroid
COSM2001150	c.7877C>T	p.A2626V	Substitution - Missense	Large_intestine
COSM5599468	c.5622G>A	p.L1874L	Substitution - coding silent	Skin
COSM3772330	c.2311C>T	p.R771C	Substitution - Missense	Pancreas
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Large_intestine
COSM371300	c.6436G>T	p.E2146*	Substitution - Nonsense	Lung
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Prostate
COSM5990324	c.3959A>C	p.N1320T	Substitution - Missense	Liver
COSM2229090	c.3051C>T	p.N1017N	Substitution - coding silent	Large_intestine
COSM4952066	c.8812G>C	p.V2938L	Substitution - Missense	Liver
COSM70612	c.5813A>C	p.H1938P	Substitution - Missense	Prostate
COSM356742	c.5248C>T	p.R1750C	Substitution - Missense	Lung
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Prostate
COSM5675971	c.8727C>T	p.I2909I	Substitution - coding silent	Soft_tissue
COSM4146853	c.6646A>C	p.T2216P	Substitution - Missense	Upper_aerodigestive_tract
COSM4792383	c.3670A>C	p.T1224P	Substitution - Missense	Liver
COSM1605812	c.8633C>T	p.A2878V	Substitution - Missense	Liver
COSM2229148	c.5138G>A	p.R1713H	Substitution - Missense	Large_intestine
COSM1677489	c.3934G>A	p.A1312T	Substitution - Missense	Large_intestine
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Skin
COSM937150	c.2605A>C	p.N869H	Substitution - Missense	Endometrium
COSM4603312	c.8184_8185insCAG	p.Q2748_T2749insQ	Insertion - In frame	Upper_aerodigestive_tract
COSM3986768	c.6127G>A	p.A2043T	Substitution - Missense	Kidney
COSM4478807	c.2269C>T	p.L757L	Substitution - coding silent	Skin
COSM468037	c.8226A>G	p.Q2742Q	Substitution - coding silent	Prostate
COSM3732224	c.4069G>A	p.A1357T	Substitution - Missense	Stomach
COSM302137	c.8181A>G	p.Q2727Q	Substitution - coding silent	Kidney
COSM4436358	c.6047T>A	p.M2016K	Substitution - Missense	Oesophagus
COSM4841000	c.1848G>A	p.S616S	Substitution - coding silent	Cervix
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Central_nervous_system
COSM937151	c.2659G>A	p.A887T	Substitution - Missense	Large_intestine
COSM2001161	c.8379G>A	p.P2793P	Substitution - coding silent	Large_intestine
COSM1289714	c.8181_8182insCAG	p.Q2748_T2749insQ	Insertion - In frame	Haematopoietic_and_lymphoid_tissue
COSM468038	c.8229G>A	p.Q2743Q	Substitution - coding silent	Breast
COSM937170	c.5824A>G	p.T1942A	Substitution - Missense	Endometrium
COSM937189	c.8232G>A	p.Q2744Q	Substitution - coding silent	Endometrium
COSM468036	c.5027G>A	p.G1676D	Substitution - Missense	Kidney
COSM5549011	c.5799C>A	p.A1933A	Substitution - coding silent	Prostate
COSM244266	c.8175G>A	p.Q2725Q	Substitution - coding silent	Central_nervous_system
COSM5008005	c.3065C>T	p.A1022V	Substitution - Missense	Large_intestine
COSM4504056	c.6553C>T	p.L2185L	Substitution - coding silent	Skin
COSM4040290	c.7886C>T	p.T2629M	Substitution - Missense	Stomach
COSM3811508	c.5629G>A	p.E1877K	Substitution - Missense	Breast
COSM5008118	c.4022G>A	p.R1341Q	Substitution - Missense	Large_intestine
COSM5009235	c.6555G>T	p.L2185L	Substitution - coding silent	Large_intestine
COSM1205379	c.1559C>T	p.T520M	Substitution - Missense	Large_intestine
COSM4603312	c.8184_8185insCAG	p.Q2748_T2749insQ	Insertion - In frame	Upper_aerodigestive_tract

> Text Mining based Variations

[ TOP ]

PMID	Variation	Cancer	Evidence
24755471	mutation	Colorectal Carcinoma	Furthermore, we documented mutations enriched in genes involved in chromatin remodeling (ARID1A, CHD6, and SRCAP) and histone methylation or acetylation (ASH1L, EP300, EP400, MLL2, MLL3, PRDM2, and TRRAP).
23508829	mutation (loss of function)	Acute Lymphoblastic Leukemia	Whole-exome- and whole-genome-sequencing of MHH-CALL-2 revealed homozygous non-synonymous coding mutations predicted to be deleterious for the protein function of 63 genes, among them known cancer-associated genes, such as FANCA, NF1, TCF7L2, CARD11, EP400, histone demethylases, and transferases (KDM6B, KDM1A, PRDM11).
23806526	mutation	Ossifying Fibromyxoid Tumor	We present an ossifying fibromyxoid tumor case with the EP400-PHF1 fusion gene detected by reverse transcriptase polymerase chain reaction, along with compatible cytogenetic data showing a t(6;12)(p21;q24.3) translocation.
24285434	mutation	Ossifying Fibromyxoid Tumor	The most common abnormality is PHF1 gene rearrangement (80%), being present in benign, atypical and malignant lesions, with fusion to EP400 in 44% of cases.
26732302	mutation	Ossifying Fibromyxoid Tumor	It is now established that OFMTs represent translocation-associated tumors, with up to 85% associated with recurrent gene rearrangements, mostly involving the PHF1 gene (including in typical, atypical, and malignant neoplasms), with EP400-PHF1 in approximately 40% of tumors, and ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions also described.

Summary
Symbol	EP400
Name	E1A binding protein p400
Aliases	CAGH32; KIAA1498; P400; KIAA1818; DKFZP434I225; TNRC12; trinucleotide repeat containing 12; CAG repeat prote ......
Location	12q24.33
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Post-translational modification (PTM)

> Post-translational modification (PTM)

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Filter By:

Uniprot ID	Position	Amino Acid	Description	Upstream Enzyme	Affected By Mutation	Amino Acid Sequence Variant
Q96L91	135	S	Phosphoserine	-	No	None detected
Q96L91	315	S	Phosphoserine	-	No	None detected
Q96L91	321	S	Phosphoserine	-	No	None detected
Q96L91	736	S	Phosphoserine	-	No	None detected
Q96L91	755	S	Phosphoserine	-	No	None detected
Q96L91	928	S	Phosphoserine	-	No	None detected
Q96L91	941	S	Phosphoserine	-	No	None detected
Q96L91	945	T	Phosphothreonine	-	No	None detected
Q96L91	1011	S	Phosphoserine	-	No	None detected
Q96L91	1472	K	N6-acetyllysine	-	No	None detected
Q96L91	1547	S	Phosphoserine	-	No	None detected
Q96L91	1728	S	Phosphoserine	-	No	None detected
Q96L91	1732	S	Phosphoserine	-	No	None detected
Q96L91	2349	K	N6-acetyllysine	-	No	None detected
Q96L91	2356	K	N6-acetyllysine	-	No	None detected
Q96L91	2686	S	Phosphoserine	-	No	None detected
Q96L91	2813	T	Phosphothreonine	-	No	None detected

Summary
Symbol	EP400
Name	E1A binding protein p400
Aliases	CAGH32; KIAA1498; P400; KIAA1818; DKFZP434I225; TNRC12; trinucleotide repeat containing 12; CAG repeat prote ......
Location	12q24.33
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Expression analysis in primary tumor tissue from TCGA > Expression level in cancer cell line from CCLE > Expression level in human normal tissue from HPA > Text mining based expression change

> The Cancer Genome Atlas (TCGA)

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Differential expression analysis for cancers with more than 10 normal samples

Cancer	Full Name	# N	# T	Median (N)	Median (T)	LogFC	Adj. P	Status
BLCA	Bladder urothelial carcinoma	19	408	5.987	6.071	-0.01	0.951	NS
BRCA	Breast invasive carcinoma	112	1100	6.34	6.287	-0.096	0.0342	NS
CESC	Cervical and endocervical cancers	3	306	6.042	6.041	NA	NA	NA
COAD	Colon adenocarcinoma	41	459	5.955	6.287	0.313	0.000355	NS
ESCA	Esophageal carcinoma	11	185	6.889	6.955	0.166	0.365	NS
GBM	Glioblastoma multiforme	5	166	6.648	6.06	NA	NA	NA
HNSC	Head and Neck squamous cell carcinoma	44	522	5.969	5.988	0.027	0.776	NS
KIRC	Kidney renal clear cell carcinoma	72	534	5.798	5.847	0.096	0.0911	NS
KIRP	Kidney renal papillary cell carcinoma	32	291	5.932	6.024	0.124	0.208	NS
LAML	Acute Myeloid Leukemia	0	173	NA	7.76	NA	NA	NA
LGG	Brain Lower Grade Glioma	0	530	NA	6.563	NA	NA	NA
LIHC	Liver hepatocellular carcinoma	50	373	4.282	4.755	0.479	4.24e-09	NS
LUAD	Lung adenocarcinoma	59	517	6.186	6.249	0.146	0.112	NS
LUSC	Lung squamous cell carcinoma	51	501	6.186	6.312	0.136	0.152	NS
OV	Ovarian serous cystadenocarcinoma	0	307	NA	6.435	NA	NA	NA
PAAD	Pancreatic adenocarcinoma	4	179	5.877	5.829	NA	NA	NA
PCPG	Pheochromocytoma and Paraganglioma	3	184	5.857	6.223	NA	NA	NA
PRAD	Prostate adenocarcinoma	52	498	5.966	5.903	-0.024	0.766	NS
READ	Rectum adenocarcinoma	10	167	6.03	6.253	0.437	0.0294	NS
SARC	Sarcoma	2	263	5.195	6.04	NA	NA	NA
SKCM	Skin Cutaneous Melanoma	1	472	5.854	6.34	NA	NA	NA
STAD	Stomach adenocarcinoma	35	415	6.391	6.681	0.426	5.56e-06	NS
TGCT	Testicular Germ Cell Tumors	0	156	NA	6.998	NA	NA	NA
THCA	Thyroid carcinoma	59	509	6.245	6.103	-0.099	0.0514	NS
THYM	Thymoma	2	120	6.63	6.405	NA	NA	NA
UCEC	Uterine Corpus Endometrial Carcinoma	35	546	6.323	6.112	-0.225	0.00541	NS

> Cancer Cell Line Encyclopedia (CCLE)

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Tissue	Cell Line	Expression Level (Microarray)
Autonomic ganglia	CHP126	7.9
Autonomic ganglia	CHP212	7.9
Autonomic ganglia	IMR32	8.8
Autonomic ganglia	KELLY	7.9
Autonomic ganglia	KPNRTBM1	8.1
Autonomic ganglia	KPNSI9S	7.4
Autonomic ganglia	KPNYN	8.1
Autonomic ganglia	MHHNB11	8.2
Autonomic ganglia	NB1	7.8
Autonomic ganglia	NH6	7.8
Autonomic ganglia	SHSY5Y	7.9
Autonomic ganglia	SIMA	8.2
Autonomic ganglia	SKNAS	8.3
Autonomic ganglia	SKNBE2	8.2
Autonomic ganglia	SKNDZ	8.2
Autonomic ganglia	SKNFI	7.9
Autonomic ganglia	SKNSH	7.4
Biliary tract	HUCCT1	7.5
Biliary tract	HUH28	7.3
Biliary tract	SNU1079	7.6
Biliary tract	SNU1196	7.7
Biliary tract	SNU245	7.8
Biliary tract	SNU308	7.9
Biliary tract	SNU478	8.2
Bone	143B	8.5
Bone	A673	8.2
Bone	CADOES1	7.6
Bone	CAL78	7.4
Bone	G292CLONEA141B1	7.3
Bone	HOS	8.2
Bone	HS706T	7.4
Bone	HS737T	7.2
Bone	HS819T	6.8
Bone	HS821T	7.1
Bone	HS822T	6.9
Bone	HS863T	7.2
Bone	HS870T	6.8
Bone	HS888T	7.5
Bone	MG63	8.4
Bone	MHHES1	8.5
Bone	OUMS27	6.8
Bone	RDES	8.8
Bone	SJSA1	7.9
Bone	SKES1	8.4
Bone	SKNMC	7.9
Bone	SW1353	7.8
Bone	T173	7.2
Bone	TC71	7.9
Bone	U2OS	7.8
Breast	AU565	7.2
Breast	BT20	7.3
Breast	BT474	7.9
Breast	BT483	8.1
Breast	BT549	7.2
Breast	CAL120	7.2
Breast	CAL148	8.1
Breast	CAL51	7.9
Breast	CAL851	7.1
Breast	CAMA1	7.2
Breast	DU4475	8.1
Breast	EFM192A	8
Breast	EFM19	8.4
Breast	EVSAT	7.6
Breast	HCC1143	7.6
Breast	HCC1187	7.1
Breast	HCC1395	6.9
Breast	HCC1419	7.4
Breast	HCC1428	7.6
Breast	HCC1500	7.6
Breast	HCC1569	7.1
Breast	HCC1599	7.9
Breast	HCC1806	8.1
Breast	HCC1937	6.4
Breast	HCC1954	7.1
Breast	HCC202	8
Breast	HCC2157	6.9
Breast	HCC2218	7.1
Breast	HCC38	7.1
Breast	HCC70	7
Breast	HDQP1	7.1
Breast	HMC18	8
Breast	HS274T	7.3
Breast	HS281T	7.4
Breast	HS343T	7.4
Breast	HS578T	7
Breast	HS606T	7
Breast	HS739T	7.1
Breast	HS742T	6.8
Breast	JIMT1	7.6
Breast	KPL1	8
Breast	MCF7	7.9
Breast	MDAMB134VI	7.5
Breast	MDAMB157	7.1
Breast	MDAMB175VII	7.1
Breast	MDAMB231	7.5
Breast	MDAMB361	7.7
Breast	MDAMB415	7.7
Breast	MDAMB436	7.2
Breast	MDAMB453	7.6
Breast	MDAMB468	6.7
Breast	SKBR3	7.3
Breast	T47D	7.6
Breast	UACC812	7.9
Breast	UACC893	7.6
Breast	YMB1	7.4
Breast	ZR751	7.1
Breast	ZR7530	7.5
Central nervous system	1321N1	7.7
Central nervous system	42MGBA	7.9
Central nervous system	8MGBA	7
Central nervous system	A172	7.3
Central nervous system	AM38	7.9
Central nervous system	BECKER	7.3
Central nervous system	CAS1	7.5
Central nervous system	CCFSTTG1	7.6
Central nervous system	D283MED	7.9
Central nervous system	D341MED	8
Central nervous system	DAOY	7.3
Central nervous system	DBTRG05MG	7.4
Central nervous system	DKMG	7.5
Central nervous system	GAMG	7.4
Central nervous system	GB1	8.4
Central nervous system	GI1	7.8
Central nervous system	GMS10	6.8
Central nervous system	GOS3	7.6
Central nervous system	H4	7.5
Central nervous system	HS683	7.5
Central nervous system	KALS1	7.4
Central nervous system	KG1C	7.1
Central nervous system	KNS42	7.5
Central nervous system	KNS60	7.5
Central nervous system	KNS81	7.4
Central nervous system	KS1	7.5
Central nervous system	LN18	8.3
Central nervous system	LN229	7.4
Central nervous system	M059K	7.1
Central nervous system	MOGGCCM	6.8
Central nervous system	MOGGUVW	7.9
Central nervous system	NMCG1	7.2
Central nervous system	ONS76	7.4
Central nervous system	SF126	7.5
Central nervous system	SF295	7.6
Central nervous system	SNB19	7.1
Central nervous system	SNU1105	7.6
Central nervous system	SNU201	7.6
Central nervous system	SNU466	7.5
Central nervous system	SNU489	7.5
Central nervous system	SNU626	7.1
Central nervous system	SNU738	7.5
Central nervous system	SW1088	7.7
Central nervous system	SW1783	6.9
Central nervous system	T98G	7.4
Central nervous system	TM31	8.1
Central nervous system	U118MG	7.4
Central nervous system	U138MG	7.7
Central nervous system	U251MG	7
Central nervous system	U87MG	7.6
Central nervous system	YH13	8
Central nervous system	YKG1	7.4
Endometrium	AN3CA	7.3
Endometrium	COLO684	7.5
Endometrium	EFE184	7.2
Endometrium	EN	7
Endometrium	ESS1	7.4
Endometrium	HEC108	7.3
Endometrium	HEC151	7.4
Endometrium	HEC1A	7.4
Endometrium	HEC1B	7.5
Endometrium	HEC251	7.3
Endometrium	HEC265	7.6
Endometrium	HEC50B	7.3
Endometrium	HEC59	7.4
Endometrium	HEC6	7.4
Endometrium	ISHIKAWAHERAKLIO02ER	7.4
Endometrium	JHUEM1	7.3
Endometrium	JHUEM2	7.4
Endometrium	JHUEM3	7.4
Endometrium	KLE	7.7
Endometrium	MFE280	7.8
Endometrium	MFE296	7.7
Endometrium	MFE319	7.3
Endometrium	RL952	7.5
Endometrium	SNGM	7.6
Endometrium	SNU1077	7.5
Endometrium	SNU685	7.8
Endometrium	TEN	7.6
Haematopoietic and lymphoid	697	8.2
Haematopoietic and lymphoid	A3KAW	7.7
Haematopoietic and lymphoid	A4FUK	7.5
Haematopoietic and lymphoid	ALLSIL	8.5
Haematopoietic and lymphoid	AML193	8
Haematopoietic and lymphoid	AMO1	7.5
Haematopoietic and lymphoid	BCP1	7.8
Haematopoietic and lymphoid	BDCM	7.8
Haematopoietic and lymphoid	BL41	7.9
Haematopoietic and lymphoid	BL70	7.9
Haematopoietic and lymphoid	BV173	8.5
Haematopoietic and lymphoid	CA46	7.7
Haematopoietic and lymphoid	CI1	8.3
Haematopoietic and lymphoid	CMK115	7.9
Haematopoietic and lymphoid	CMK86	7.9
Haematopoietic and lymphoid	CMK	8.3
Haematopoietic and lymphoid	CMLT1	7.9
Haematopoietic and lymphoid	COLO775	6.7
Haematopoietic and lymphoid	DAUDI	7.4
Haematopoietic and lymphoid	DB	7.9
Haematopoietic and lymphoid	DEL	7.6
Haematopoietic and lymphoid	DND41	8.2
Haematopoietic and lymphoid	DOHH2	8
Haematopoietic and lymphoid	EB1	7.1
Haematopoietic and lymphoid	EB2	6.8
Haematopoietic and lymphoid	EHEB	7.6
Haematopoietic and lymphoid	EJM	6.8
Haematopoietic and lymphoid	EM2	7.9
Haematopoietic and lymphoid	EOL1	8.2
Haematopoietic and lymphoid	F36P	7.7
Haematopoietic and lymphoid	GA10	7.7
Haematopoietic and lymphoid	GDM1	7.9
Haematopoietic and lymphoid	GRANTA519	8.3
Haematopoietic and lymphoid	HDLM2	6.9
Haematopoietic and lymphoid	HDMYZ	7.1
Haematopoietic and lymphoid	HEL9217	8.1
Haematopoietic and lymphoid	HEL	8.1
Haematopoietic and lymphoid	HH	7.9
Haematopoietic and lymphoid	HL60	9.2
Haematopoietic and lymphoid	HPBALL	8.3
Haematopoietic and lymphoid	HS604T	7.5
Haematopoietic and lymphoid	HS611T	7.8
Haematopoietic and lymphoid	HS616T	7.1
Haematopoietic and lymphoid	HS751T	6.8
Haematopoietic and lymphoid	HT	7.3
Haematopoietic and lymphoid	HTK	8.2
Haematopoietic and lymphoid	HUNS1	7.7
Haematopoietic and lymphoid	HUT102	7.4
Haematopoietic and lymphoid	HUT78	7.9
Haematopoietic and lymphoid	JEKO1	8.4
Haematopoietic and lymphoid	JK1	7.8
Haematopoietic and lymphoid	JM1	8.1
Haematopoietic and lymphoid	JURKAT	7.3
Haematopoietic and lymphoid	JURLMK1	8.6
Haematopoietic and lymphoid	JVM2	7.4
Haematopoietic and lymphoid	JVM3	8.2
Haematopoietic and lymphoid	K562	7.9
Haematopoietic and lymphoid	KARPAS299	7.9
Haematopoietic and lymphoid	KARPAS422	7.6
Haematopoietic and lymphoid	KARPAS620	7.4
Haematopoietic and lymphoid	KASUMI1	8.1
Haematopoietic and lymphoid	KASUMI2	8.4
Haematopoietic and lymphoid	KASUMI6	8
Haematopoietic and lymphoid	KCL22	7.9
Haematopoietic and lymphoid	KE37	8.1
Haematopoietic and lymphoid	KE97	7.8
Haematopoietic and lymphoid	KG1	8.2
Haematopoietic and lymphoid	KHM1B	7.1
Haematopoietic and lymphoid	KIJK	7.7
Haematopoietic and lymphoid	KMH2	8.2
Haematopoietic and lymphoid	KMM1	7.6
Haematopoietic and lymphoid	KMS11	7.3
Haematopoietic and lymphoid	KMS12BM	7.8
Haematopoietic and lymphoid	KMS18	8.3
Haematopoietic and lymphoid	KMS20	8.1
Haematopoietic and lymphoid	KMS21BM	7.5
Haematopoietic and lymphoid	KMS26	7.4
Haematopoietic and lymphoid	KMS27	7.4
Haematopoietic and lymphoid	KMS28BM	7.7
Haematopoietic and lymphoid	KMS34	7.4
Haematopoietic and lymphoid	KO52	8.1
Haematopoietic and lymphoid	KOPN8	8.6
Haematopoietic and lymphoid	KU812	7.9
Haematopoietic and lymphoid	KYO1	7.5
Haematopoietic and lymphoid	L1236	7.2
Haematopoietic and lymphoid	L363	7.6
Haematopoietic and lymphoid	L428	8.2
Haematopoietic and lymphoid	L540	7.5
Haematopoietic and lymphoid	LAMA84	7.9
Haematopoietic and lymphoid	LOUCY	8.4
Haematopoietic and lymphoid	LP1	7.9
Haematopoietic and lymphoid	M07E	8.2
Haematopoietic and lymphoid	MC116	7.7
Haematopoietic and lymphoid	ME1	8.4
Haematopoietic and lymphoid	MEC1	7.7
Haematopoietic and lymphoid	MEC2	8.1
Haematopoietic and lymphoid	MEG01	7.9
Haematopoietic and lymphoid	MHHCALL2	8.1
Haematopoietic and lymphoid	MHHCALL3	8.3
Haematopoietic and lymphoid	MHHCALL4	8.1
Haematopoietic and lymphoid	MINO	8
Haematopoietic and lymphoid	MJ	7.6
Haematopoietic and lymphoid	MM1S	6.8
Haematopoietic and lymphoid	MOLM13	8.1
Haematopoietic and lymphoid	MOLM16	8.1
Haematopoietic and lymphoid	MOLM6	7.8
Haematopoietic and lymphoid	MOLP2	7.6
Haematopoietic and lymphoid	MOLP8	7.5
Haematopoietic and lymphoid	MOLT13	8.5
Haematopoietic and lymphoid	MOLT16	7.9
Haematopoietic and lymphoid	MOLT4	7.8
Haematopoietic and lymphoid	MONOMAC1	7.9
Haematopoietic and lymphoid	MONOMAC6	7.9
Haematopoietic and lymphoid	MOTN1	8.1
Haematopoietic and lymphoid	MUTZ5	8.1
Haematopoietic and lymphoid	MV411	8.3
Haematopoietic and lymphoid	NALM19	8.2
Haematopoietic and lymphoid	NALM1	8.3
Haematopoietic and lymphoid	NALM6	7.8
Haematopoietic and lymphoid	NAMALWA	8.1
Haematopoietic and lymphoid	NB4	8.4
Haematopoietic and lymphoid	NCIH929	7.3
Haematopoietic and lymphoid	NCO2	7.6
Haematopoietic and lymphoid	NOMO1	7.9
Haematopoietic and lymphoid	NUDHL1	8
Haematopoietic and lymphoid	NUDUL1	7.9
Haematopoietic and lymphoid	OCIAML2	8.1
Haematopoietic and lymphoid	OCIAML3	8.4
Haematopoietic and lymphoid	OCIAML5	8.2
Haematopoietic and lymphoid	OCILY10	7.9
Haematopoietic and lymphoid	OCILY19	8.1
Haematopoietic and lymphoid	OCILY3	7.5
Haematopoietic and lymphoid	OCIM1	7.7
Haematopoietic and lymphoid	OPM2	7.7
Haematopoietic and lymphoid	P12ICHIKAWA	8.5
Haematopoietic and lymphoid	P31FUJ	7.3
Haematopoietic and lymphoid	P3HR1	7.9
Haematopoietic and lymphoid	PCM6	7.2
Haematopoietic and lymphoid	PEER	8.2
Haematopoietic and lymphoid	PF382	8.2
Haematopoietic and lymphoid	PFEIFFER	7.9
Haematopoietic and lymphoid	PL21	7.8
Haematopoietic and lymphoid	RAJI	7.6
Haematopoietic and lymphoid	RCHACV	8.2
Haematopoietic and lymphoid	REC1	7.5
Haematopoietic and lymphoid	REH	8
Haematopoietic and lymphoid	RI1	8.8
Haematopoietic and lymphoid	RL	7.6
Haematopoietic and lymphoid	RPMI8226	6.6
Haematopoietic and lymphoid	RPMI8402	8.3
Haematopoietic and lymphoid	RS411	8
Haematopoietic and lymphoid	SEM	8
Haematopoietic and lymphoid	SET2	8
Haematopoietic and lymphoid	SIGM5	8.5
Haematopoietic and lymphoid	SKM1	7
Haematopoietic and lymphoid	SKMM2	7.7
Haematopoietic and lymphoid	SR786	7.7
Haematopoietic and lymphoid	ST486	7.5
Haematopoietic and lymphoid	SUDHL10	7.8
Haematopoietic and lymphoid	SUDHL1	8
Haematopoietic and lymphoid	SUDHL4	7.9
Haematopoietic and lymphoid	SUDHL5	7.9
Haematopoietic and lymphoid	SUDHL6	7.6
Haematopoietic and lymphoid	SUDHL8	7.6
Haematopoietic and lymphoid	SUPB15	8.1
Haematopoietic and lymphoid	SUPHD1	7.8
Haematopoietic and lymphoid	SUPM2	7.2
Haematopoietic and lymphoid	SUPT11	8.5
Haematopoietic and lymphoid	SUPT1	8.3
Haematopoietic and lymphoid	TALL1	8.2
Haematopoietic and lymphoid	TF1	6.9
Haematopoietic and lymphoid	THP1	7.9
Haematopoietic and lymphoid	TO175T	7.7
Haematopoietic and lymphoid	TOLEDO	7.9
Haematopoietic and lymphoid	U266B1	7.4
Haematopoietic and lymphoid	U937	7.8
Haematopoietic and lymphoid	UT7	7.9
Haematopoietic and lymphoid	WSUDLCL2	7.5
Kidney	769P	7.5
Kidney	786O	7.7
Kidney	A498	7.5
Kidney	A704	6.9
Kidney	ACHN	8.1
Kidney	BFTC909	7.9
Kidney	CAKI1	7.3
Kidney	CAKI2	6.8
Kidney	CAL54	7.9
Kidney	KMRC1	7.1
Kidney	KMRC20	7.5
Kidney	KMRC2	7.3
Kidney	KMRC3	7.2
Kidney	OSRC2	7.6
Kidney	RCC10RGB	7.2
Kidney	SNU1272	7.4
Kidney	SNU349	7.2
Kidney	TUHR10TKB	7.3
Kidney	TUHR14TKB	7.2
Kidney	TUHR4TKB	7.8
Kidney	VMRCRCW	6.8
Kidney	VMRCRCZ	7.9
Large intestine	C2BBE1	7.3
Large intestine	CCK81	7.6
Large intestine	CL11	7.6
Large intestine	CL14	8.3
Large intestine	CL34	7.5
Large intestine	CL40	8.2
Large intestine	COLO205	7.4
Large intestine	COLO320	8.8
Large intestine	COLO678	8.1
Large intestine	CW2	7.4
Large intestine	DLD1	7.9
Large intestine	GP2D	7.4
Large intestine	HCC56	7.3
Large intestine	HCT116	7.8
Large intestine	HCT15	7.7
Large intestine	HS675T	7
Large intestine	HS698T	7.4
Large intestine	HT115	8.2
Large intestine	HT29	7.3
Large intestine	HT55	7.4
Large intestine	KM12	7.2
Large intestine	LOVO	7.8
Large intestine	LS1034	7.7
Large intestine	LS123	7.3
Large intestine	LS180	7.5
Large intestine	LS411N	7.4
Large intestine	LS513	7.3
Large intestine	MDST8	7.8
Large intestine	NCIH508	7.6
Large intestine	NCIH716	7.5
Large intestine	NCIH747	7.5
Large intestine	OUMS23	7.4
Large intestine	RCM1	7.8
Large intestine	RKO	7.4
Large intestine	SKCO1	7.8
Large intestine	SNU1040	7.6
Large intestine	SNU1197	7.2
Large intestine	SNU175	7.6
Large intestine	SNU283	7.7
Large intestine	SNU407	7.9
Large intestine	SNU503	7.7
Large intestine	SNU61	7.8
Large intestine	SNU81	7.3
Large intestine	SNUC1	7.9
Large intestine	SNUC2A	7.2
Large intestine	SNUC4	7.5
Large intestine	SNUC5	7.5
Large intestine	SW1116	8
Large intestine	SW1417	7.5
Large intestine	SW1463	7.9
Large intestine	SW403	7.7
Large intestine	SW480	6.9
Large intestine	SW48	7.9
Large intestine	SW620	7.7
Large intestine	SW837	7.7
Large intestine	SW948	7.5
Large intestine	T84	7.8
Liver	ALEXANDERCELLS	6.9
Liver	C3A	7.6
Liver	HEP3B217	7.4
Liver	HEPG2	7.2
Liver	HLE	7
Liver	HLF	7.5
Liver	HUH1	8
Liver	HUH6	8.1
Liver	HUH7	7.1
Liver	JHH1	7.3
Liver	JHH2	6.7
Liver	JHH4	7.7
Liver	JHH5	7.4
Liver	JHH6	7.7
Liver	JHH7	7.8
Liver	LI7	8
Liver	PLCPRF5	7.5
Liver	SKHEP1	8
Liver	SNU182	7.2
Liver	SNU387	7.6
Liver	SNU398	7.8
Liver	SNU423	7.6
Liver	SNU449	7.4
Liver	SNU475	7.5
Liver	SNU761	7.3
Liver	SNU878	7.3
Liver	SNU886	7.5
Lung	A549	7.9
Lung	ABC1	6.9
Lung	BEN	7.2
Lung	CAL12T	7
Lung	CALU1	7.5
Lung	CALU3	8.1
Lung	CALU6	7.6
Lung	CHAGOK1	7
Lung	COLO668	7.4
Lung	COLO699	8
Lung	CORL105	6.6
Lung	CORL23	7.6
Lung	CORL24	7.6
Lung	CORL279	7.5
Lung	CORL311	7.7
Lung	CORL47	7.8
Lung	CORL51	7.8
Lung	CORL88	7.8
Lung	CORL95	7.6
Lung	CPCN	7.6
Lung	DMS114	8
Lung	DMS153	7.7
Lung	DMS273	7.3
Lung	DMS454	7.5
Lung	DMS53	7.5
Lung	DMS79	7.3
Lung	DV90	7
Lung	EBC1	8.4
Lung	EPLC272H	7.4
Lung	HARA	7.6
Lung	HCC1171	7.6
Lung	HCC1195	7.9
Lung	HCC15	6.8
Lung	HCC2279	7
Lung	HCC2935	6.9
Lung	HCC33	11.7
Lung	HCC366	7.2
Lung	HCC4006	7.4
Lung	HCC44	7.1
Lung	HCC78	7.7
Lung	HCC827	7.6
Lung	HCC95	7.4
Lung	HLC1	8.2
Lung	HLFA	6.9
Lung	HS229T	7.1
Lung	HS618T	7.5
Lung	IALM	8.3
Lung	KNS62	6.8
Lung	LC1F	7.6
Lung	LC1SQSF	7.1
Lung	LCLC103H	8.3
Lung	LCLC97TM1	8.6
Lung	LK2	7.9
Lung	LOUNH91	7.6
Lung	LU65	7.2
Lung	LU99	8
Lung	LUDLU1	7.8
Lung	LXF289	8
Lung	MORCPR	7.7
Lung	NCIH1048	7.8
Lung	NCIH1092	7.7
Lung	NCIH1105	8.2
Lung	NCIH1155	7.2
Lung	NCIH1184	7.9
Lung	NCIH1299	7.4
Lung	NCIH1339	7
Lung	NCIH1341	7.2
Lung	NCIH1355	7
Lung	NCIH1373	7.9
Lung	NCIH1385	7.7
Lung	NCIH1395	6.9
Lung	NCIH1435	8
Lung	NCIH1436	7.6
Lung	NCIH1437	7.8
Lung	NCIH146	7.3
Lung	NCIH1563	6.8
Lung	NCIH1568	7.4
Lung	NCIH1573	8.1
Lung	NCIH1581	8.9
Lung	NCIH1618	7.7
Lung	NCIH1623	8.1
Lung	NCIH1648	7.7
Lung	NCIH1650	7.7
Lung	NCIH1651	7.4
Lung	NCIH1666	7.2
Lung	NCIH1693	7
Lung	NCIH1694	7.3
Lung	NCIH1703	7.7
Lung	NCIH1734	7.1
Lung	NCIH1755	8.1
Lung	NCIH1781	7.1
Lung	NCIH1792	7.9
Lung	NCIH1793	7.3
Lung	NCIH1836	7.9
Lung	NCIH1838	7.7
Lung	NCIH1869	7.6
Lung	NCIH1876	8
Lung	NCIH1915	7
Lung	NCIH1930	7.9
Lung	NCIH1944	7.4
Lung	NCIH1963	8.5
Lung	NCIH196	7.4
Lung	NCIH1975	7.1
Lung	NCIH2009	7.4
Lung	NCIH2023	7.7
Lung	NCIH2029	7.7
Lung	NCIH2030	7.3
Lung	NCIH2066	7.3
Lung	NCIH2081	7.7
Lung	NCIH2085	7.5
Lung	NCIH2087	7.8
Lung	NCIH209	7.8
Lung	NCIH2106	7.3
Lung	NCIH2110	7.3
Lung	NCIH211	7.9
Lung	NCIH2122	7.8
Lung	NCIH2126	7.3
Lung	NCIH2141	8.1
Lung	NCIH2170	7.5
Lung	NCIH2171	7.6
Lung	NCIH2172	7.5
Lung	NCIH2196	7.4
Lung	NCIH2227	8.7
Lung	NCIH2228	7.6
Lung	NCIH226	7.8
Lung	NCIH2286	7.8
Lung	NCIH2291	7.4
Lung	NCIH2342	7.3
Lung	NCIH2347	7.2
Lung	NCIH23	8.1
Lung	NCIH2405	7.5
Lung	NCIH2444	7.3
Lung	NCIH292	7.3
Lung	NCIH322	7.4
Lung	NCIH3255	7.2
Lung	NCIH358	7.5
Lung	NCIH441	7.9
Lung	NCIH446	7.2
Lung	NCIH460	7.8
Lung	NCIH510	8.3
Lung	NCIH520	6.9
Lung	NCIH522	7.5
Lung	NCIH524	7.5
Lung	NCIH526	7.9
Lung	NCIH596	6.4
Lung	NCIH647	7.6
Lung	NCIH650	7.8
Lung	NCIH661	7.3
Lung	NCIH69	7.9
Lung	NCIH727	7.7
Lung	NCIH810	7.6
Lung	NCIH82	7.9
Lung	NCIH838	6.5
Lung	NCIH841	8
Lung	NCIH854	7.4
Lung	NCIH889	8.2
Lung	PC14	7.3
Lung	RERFLCAD1	7.7
Lung	RERFLCAD2	6.9
Lung	RERFLCAI	7.4
Lung	RERFLCKJ	7.6
Lung	RERFLCMS	7
Lung	RERFLCSQ1	7.3
Lung	SBC5	7.7
Lung	SCLC21H	8.1
Lung	SHP77	7.8
Lung	SKLU1	7.6
Lung	SKMES1	7.5
Lung	SQ1	7
Lung	SW1271	7.8
Lung	SW1573	8
Lung	SW900	7.7
Lung	VMRCLCD	8
Lung	VMRCLCP	7.8
Oesophagus	COLO680N	7.8
Oesophagus	ECGI10	7.3
Oesophagus	KYSE140	7.3
Oesophagus	KYSE150	7.7
Oesophagus	KYSE180	7.5
Oesophagus	KYSE270	7.9
Oesophagus	KYSE30	7.3
Oesophagus	KYSE410	7.8
Oesophagus	KYSE450	7.3
Oesophagus	KYSE510	7.7
Oesophagus	KYSE520	7.1
Oesophagus	KYSE70	7.4
Oesophagus	OE19	7.3
Oesophagus	OE33	7.8
Oesophagus	TE10	8.3
Oesophagus	TE11	7.8
Oesophagus	TE14	7.6
Oesophagus	TE15	7.7
Oesophagus	TE1	7.4
Oesophagus	TE4	7.4
Oesophagus	TE5	7.4
Oesophagus	TE6	7.3
Oesophagus	TE8	7.5
Oesophagus	TE9	7.4
Oesophagus	TT	7.8
Ovary	59M	7.6
Ovary	A2780	8.1
Ovary	CAOV3	7.1
Ovary	CAOV4	7.2
Ovary	COLO704	7.4
Ovary	COV318	7.7
Ovary	COV362	6.6
Ovary	COV434	7.4
Ovary	COV504	7.1
Ovary	COV644	7.1
Ovary	EFO21	7.7
Ovary	EFO27	7.5
Ovary	ES2	6.8
Ovary	FUOV1	7
Ovary	HEYA8	6.9
Ovary	HS571T	7
Ovary	IGROV1	7.4
Ovary	JHOC5	7.8
Ovary	JHOM1	7.2
Ovary	JHOM2B	7.7
Ovary	JHOS2	7.1
Ovary	JHOS4	7.4
Ovary	KURAMOCHI	7.1
Ovary	MCAS	7.4
Ovary	NIHOVCAR3	7.5
Ovary	OAW28	7.7
Ovary	OAW42	7.3
Ovary	OC314	7.1
Ovary	OC316	7.1
Ovary	ONCODG1	7.8
Ovary	OV56	7.5
Ovary	OV7	7.6
Ovary	OV90	8.3
Ovary	OVCAR4	7
Ovary	OVCAR8	7.5
Ovary	OVISE	7.5
Ovary	OVK18	6.9
Ovary	OVKATE	5.7
Ovary	OVMANA	7.3
Ovary	OVSAHO	7.2
Ovary	OVTOKO	7.4
Ovary	RMGI	7.4
Ovary	RMUGS	7.7
Ovary	SKOV3	7.7
Ovary	SNU119	7
Ovary	SNU840	8
Ovary	SNU8	7.6
Ovary	TOV112D	8
Ovary	TOV21G	7.5
Ovary	TYKNU	7.4
Pancreas	ASPC1	7.3
Pancreas	BXPC3	7.6
Pancreas	CAPAN1	7.5
Pancreas	CAPAN2	6.8
Pancreas	CFPAC1	7.9
Pancreas	DANG	7.7
Pancreas	HPAC	7.6
Pancreas	HPAFII	7.9
Pancreas	HS766T	7.2
Pancreas	HUPT3	7.5
Pancreas	HUPT4	7.9
Pancreas	KCIMOH1	6.9
Pancreas	KLM1	8
Pancreas	KP2	7
Pancreas	KP3	6.9
Pancreas	KP4	7.8
Pancreas	L33	7.8
Pancreas	MIAPACA2	8.2
Pancreas	PANC0203	7.5
Pancreas	PANC0213	7.5
Pancreas	PANC0327	6.8
Pancreas	PANC0403	6.7
Pancreas	PANC0504	7.7
Pancreas	PANC0813	7.5
Pancreas	PANC1005	7.7
Pancreas	PANC1	7.8
Pancreas	PATU8902	7.2
Pancreas	PATU8988S	7.4
Pancreas	PATU8988T	7.8
Pancreas	PK1	8.1
Pancreas	PK45H	7.5
Pancreas	PK59	7.8
Pancreas	PL45	7.4
Pancreas	PSN1	7.8
Pancreas	QGP1	7
Pancreas	SNU213	6.8
Pancreas	SNU324	7.6
Pancreas	SNU410	7.7
Pancreas	SU8686	7.7
Pancreas	SUIT2	7.5
Pancreas	SW1990	6.6
Pancreas	T3M4	7.7
Pancreas	TCCPAN2	7.2
Pancreas	YAPC	7.6
Pleura	ACCMESO1	6.7
Pleura	DM3	7.3
Pleura	ISTMES1	7.8
Pleura	ISTMES2	7.8
Pleura	JL1	7.7
Pleura	MPP89	6.8
Pleura	MSTO211H	8.2
Pleura	NCIH2052	7.5
Pleura	NCIH2452	7.5
Pleura	NCIH28	8
Prostate	22RV1	7.8
Prostate	DU145	6.9
Prostate	LNCAPCLONEFGC	7.1
Prostate	MDAPCA2B	7
Prostate	NCIH660	7.2
Prostate	PC3	7.5
Prostate	VCAP	7.6
Salivary gland	A253	7.3
Salivary gland	YD15	7.4
Skin	A101D	7.6
Skin	A2058	7.7
Skin	A375	7.4
Skin	C32	7.2
Skin	CHL1	7.6
Skin	CJM	8.1
Skin	COLO679	7.4
Skin	COLO741	7.6
Skin	COLO783	7.5
Skin	COLO792	7.4
Skin	COLO800	7.6
Skin	COLO818	7.4
Skin	COLO829	7.6
Skin	COLO849	7.4
Skin	G361	7.3
Skin	GRM	8.1
Skin	HMCB	7.6
Skin	HS294T	7.4
Skin	HS600T	7.2
Skin	HS688AT	7.1
Skin	HS695T	7
Skin	HS839T	7.4
Skin	HS852T	7.7
Skin	HS895T	7
Skin	HS934T	7.7
Skin	HS936T	7.7
Skin	HS939T	7.5
Skin	HS940T	7.4
Skin	HS944T	6.9
Skin	HT144	7.5
Skin	IGR1	8.2
Skin	IGR37	7
Skin	IGR39	7
Skin	IPC298	7.8
Skin	K029AX	7.6
Skin	LOXIMVI	7.9
Skin	MALME3M	7
Skin	MDAMB435S	6.6
Skin	MELHO	7.9
Skin	MELJUSO	7.4
Skin	MEWO	7.5
Skin	RPMI7951	7
Skin	RVH421	7.1
Skin	SH4	7.3
Skin	SKMEL1	8.9
Skin	SKMEL24	7.2
Skin	SKMEL28	7
Skin	SKMEL2	7.7
Skin	SKMEL30	7.4
Skin	SKMEL31	7.3
Skin	SKMEL3	7.1
Skin	SKMEL5	7.4
Skin	UACC257	6.4
Skin	UACC62	7.7
Skin	WM115	7.2
Skin	WM1799	7.4
Skin	WM2664	7.5
Skin	WM793	7.5
Skin	WM88	7.2
Skin	WM983B	7
Small intestine	HUTU80	8.1
Soft tissue	A204	7.4
Soft tissue	G401	7.8
Soft tissue	G402	7.4
Soft tissue	GCT	7.6
Soft tissue	HS729	7.3
Soft tissue	HT1080	8.2
Soft tissue	KYM1	7.8
Soft tissue	MESSA	7.7
Soft tissue	RD	7.4
Soft tissue	RH30	8.1
Soft tissue	RH41	8.3
Soft tissue	RKN	7.8
Soft tissue	S117	7.6
Soft tissue	SJRH30	8
Soft tissue	SKLMS1	7.7
Soft tissue	SKUT1	7.9
Soft tissue	TE125T	7
Soft tissue	TE159T	7.3
Soft tissue	TE441T	9.6
Soft tissue	TE617T	7.9
Stomach	2313287	7.3
Stomach	AGS	7.5
Stomach	AZ521	7.8
Stomach	ECC10	6.7
Stomach	ECC12	7.5
Stomach	FU97	7.4
Stomach	GCIY	7.1
Stomach	GSS	7.9
Stomach	GSU	7.3
Stomach	HGC27	7.3
Stomach	HS746T	7.5
Stomach	HUG1N	7.6
Stomach	IM95	6.9
Stomach	KATOIII	7.1
Stomach	KE39	7.7
Stomach	LMSU	8.3
Stomach	MKN1	7
Stomach	MKN45	8.1
Stomach	MKN74	7.7
Stomach	MKN7	6.8
Stomach	NCCSTCK140	7.3
Stomach	NCIN87	7.6
Stomach	NUGC2	7.7
Stomach	NUGC3	8
Stomach	NUGC4	7.7
Stomach	OCUM1	7.3
Stomach	RERFGC1B	7.8
Stomach	SH10TC	7.1
Stomach	SNU16	8.1
Stomach	SNU1	7.7
Stomach	SNU216	7.1
Stomach	SNU520	7.6
Stomach	SNU5	7.6
Stomach	SNU601	7.8
Stomach	SNU620	7.5
Stomach	SNU668	7.1
Stomach	SNU719	7.5
Stomach	TGBC11TKB	8.3
Thyroid	8305C	7.3
Thyroid	8505C	7.5
Thyroid	BCPAP	8.1
Thyroid	BHT101	7.9
Thyroid	CAL62	8.1
Thyroid	CGTHW1	7.4
Thyroid	FTC133	7.1
Thyroid	FTC238	7.9
Thyroid	ML1	7.4
Thyroid	SW579	7.3
Thyroid	TT2609C02	7.7
Thyroid	TT	7.5
Upper aerodigestive tract	BHY	8
Upper aerodigestive tract	BICR16	7.5
Upper aerodigestive tract	BICR18	7.6
Upper aerodigestive tract	BICR22	7.5
Upper aerodigestive tract	BICR31	7.4
Upper aerodigestive tract	BICR56	7
Upper aerodigestive tract	BICR6	7.6
Upper aerodigestive tract	CAL27	7.3
Upper aerodigestive tract	CAL33	7.4
Upper aerodigestive tract	DETROIT562	7.4
Upper aerodigestive tract	FADU	8.1
Upper aerodigestive tract	HS840T	7.6
Upper aerodigestive tract	HSC2	7.5
Upper aerodigestive tract	HSC3	7.4
Upper aerodigestive tract	HSC4	7.9
Upper aerodigestive tract	PECAPJ15	7.3
Upper aerodigestive tract	PECAPJ34CLONEC12	7.5
Upper aerodigestive tract	PECAPJ41CLONED2	7.4
Upper aerodigestive tract	PECAPJ49	7.5
Upper aerodigestive tract	SCC15	7.1
Upper aerodigestive tract	SCC25	7.5
Upper aerodigestive tract	SCC4	7.4
Upper aerodigestive tract	SCC9	8.1
Upper aerodigestive tract	SNU1076	7.1
Upper aerodigestive tract	SNU1214	7
Upper aerodigestive tract	SNU46	7
Upper aerodigestive tract	SNU899	7.6
Upper aerodigestive tract	YD10B	7.9
Upper aerodigestive tract	YD38	7.2
Upper aerodigestive tract	YD8	7.6
Urinary tract	5637	7.9
Urinary tract	639V	7.9
Urinary tract	647V	7.9
Urinary tract	BC3C	7.3
Urinary tract	BFTC905	7.9
Urinary tract	CAL29	7.9
Urinary tract	HS172T	7
Urinary tract	HT1197	7.5
Urinary tract	HT1376	7.3
Urinary tract	J82	7.5
Urinary tract	JMSU1	8.3
Urinary tract	KMBC2	6.9
Urinary tract	KU1919	8.3
Urinary tract	RT11284	8.2
Urinary tract	RT112	7.3
Urinary tract	RT4	8.1
Urinary tract	SCABER	7.4
Urinary tract	SW1710	7.7
Urinary tract	SW780	8.5
Urinary tract	T24	7.7
Urinary tract	TCCSUP	7.8
Urinary tract	UMUC1	7.4
Urinary tract	UMUC3	8.1
Urinary tract	VMCUB1	8.1

> The Human Protein Atlas (HPA)

[ TOP ]

Tissue	Expression Level (TPM)
Adipose tissue	8
Adrenal gland	9.6
Appendix	10.4
Bone marrow	7.9
Breast	10.5
Cerebral cortex	14.2
Cervix, uterine	10.9
Colon	6.9
Duodenum	6.2
Endometrium	16
Epididymis	15.8
Esophagus	5.1
Fallopian tube	14.1
Gallbladder	9.3
Heart muscle	3.5
Kidney	5.6
Liver	2.5
Lung	10.8
Lymph node	13.1
Ovary	15.4
Pancreas	1.5
Parathyroid gland	19.8
Placenta	9.2
Prostate	12.4
Rectum	7.5
Salivary gland	3.9
Seminal vesicle	12.2
Skeletal muscle	4
Skin	18.2
Small intestine	6.9
Smooth muscle	10.8
Spleen	15.5
Stomach	6.4
Testis	20.8
Thyroid gland	13
Tonsil	8.2
Urinary bladder	6.1

> Text Mining based Expression

[ TOP ]

PMID	Expression	Cancer	Evidence
26625313	altered expression	Bladder Carcinoma	We uncovered that MLL, EP400, PRDM2, ANK3 and CHD5 exclusively altered in recurrent BCs.
23982490	loss of expression; underexpression	Renal Cell Carcinoma	Complete loss of p400 expression was detected in 64% of all tumor specimens, and decreased p400 expression was associated with advanced tumor stage, higher grade of malignancy and regional lymph node metastasis.

Summary
Symbol	EP400
Name	E1A binding protein p400
Aliases	CAGH32; KIAA1498; P400; KIAA1818; DKFZP434I225; TNRC12; trinucleotide repeat containing 12; CAG repeat prote ......
Location	12q24.33
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Somatic copy number alteration in primary tomur tissue

> The Cancer Genome Atlas (TCGA)

[ TOP ]

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

Cancer	Full Name	# Sample	R	P	% Loss	% Neutral	% Gain	Status
BLCA	Bladder urothelial carcinoma	404	0.624	4.96e-45	22	53.7	24.3	Neutral
BRCA	Breast invasive carcinoma	1075	0.55	3.65e-86	19.7	62.8	17.5	Neutral
CESC	Cervical and endocervical cancers	292	0.342	1.89e-09	8.6	75.3	16.1	Neutral
COAD	Colon adenocarcinoma	449	0.344	6.48e-14	12.7	67.5	19.8	Neutral
ESCA	Esophageal carcinoma	183	0.581	6.24e-18	25.7	52.5	21.9	Neutral
GBM	Glioblastoma multiforme	147	0.162	0.0496	10.9	79.6	9.5	Neutral
HNSC	Head and Neck squamous cell carcinoma	514	0.353	1.54e-16	12.8	72.8	14.4	Neutral
KIRC	Kidney renal clear cell carcinoma	525	0.299	2.45e-12	1.5	75.8	22.7	Neutral
KIRP	Kidney renal papillary cell carcinoma	288	0.415	1.97e-13	0.7	59.4	39.9	Gain
LAML	Acute Myeloid Leukemia	166	0.073	0.35	1.2	98.2	0.6	Neutral
LGG	Brain Lower Grade Glioma	513	0.326	3.96e-14	11.1	84.2	4.7	Neutral
LIHC	Liver hepatocellular carcinoma	364	0.494	8.69e-24	15.7	71.4	12.9	Neutral
LUAD	Lung adenocarcinoma	512	0.481	5.52e-31	25.6	49.6	24.8	Neutral
LUSC	Lung squamous cell carcinoma	498	0.317	4.69e-13	17.9	57	25.1	Neutral
OV	Ovarian serous cystadenocarcinoma	300	0.662	3.72e-39	35	38.3	26.7	Loss
PAAD	Pancreatic adenocarcinoma	177	0.606	4.18e-19	23.2	67.2	9.6	Neutral
PCPG	Pheochromocytoma and Paraganglioma	162	0.416	3.58e-08	3.1	87	9.9	Neutral
PRAD	Prostate adenocarcinoma	491	0.343	5.36e-15	9	87.2	3.9	Neutral
READ	Rectum adenocarcinoma	164	0.315	4e-05	16.5	68.3	15.2	Neutral
SARC	Sarcoma	255	0.486	1.72e-16	25.1	53.7	21.2	Neutral
SKCM	Skin Cutaneous Melanoma	367	0.474	5.41e-22	22.9	66.2	10.9	Neutral
STAD	Stomach adenocarcinoma	413	0.488	3.74e-26	15	63.9	21.1	Neutral
TGCT	Testicular Germ Cell Tumors	150	0.283	0.000439	2	41.3	56.7	Gain
THCA	Thyroid carcinoma	497	0.268	1.36e-09	0	97	3	Neutral
THYM	Thymoma	119	0.208	0.0233	5.9	90.8	3.4	Neutral
UCEC	Uterine Corpus Endometrial Carcinoma	537	0.461	1.43e-29	12.5	77.1	10.4	Neutral

Summary
Symbol	EP400
Name	E1A binding protein p400
Aliases	CAGH32; KIAA1498; P400; KIAA1818; DKFZP434I225; TNRC12; trinucleotide repeat containing 12; CAG repeat prote ......
Location	12q24.33
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Methylation level in the promoter region of CR

> Methylation level in the promoter region of CR

[ TOP ]

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

Cancer	Full Name	R	P	# N	# T	Delta beta (T vs N)	P value (T vs N)	Status
BLCA	Bladder urothelial carcinoma	-0.39	0	17	408	-0.107	0.000104	NS/NA
BRCA	Breast invasive carcinoma	-0.067	0.0469	83	785	0.001	0.000921	NS/NA
CESC	Cervical and endocervical cancers	-0.311	2.84e-08	3	306	NA	NA	NS/NA
COAD	Colon adenocarcinoma	-0.117	0.0373	19	297	-0.012	0.0982	NS/NA
ESCA	Esophageal carcinoma	-0.266	0.000185	9	185	NA	NA	NS/NA
GBM	Glioblastoma multiforme	-0.042	0.741	1	64	NA	NA	NS/NA
HNSC	Head and Neck squamous cell carcinoma	-0.109	0.0109	20	522	-0.289	5.91e-16	Decreased
KIRC	Kidney renal clear cell carcinoma	-0.173	0.00128	24	319	-0.065	3.19e-21	NS/NA
KIRP	Kidney renal papillary cell carcinoma	-0.084	0.15	23	275	-0.044	8.45e-09	NS/NA
LAML	Acute Myeloid Leukemia	-0.048	0.537	0	170	NA	NA	NS/NA
LGG	Brain Lower Grade Glioma	-0.041	0.346	0	530	NA	NA	NS/NA
LIHC	Liver hepatocellular carcinoma	-0.264	5.74e-08	41	373	-0.197	2.66e-09	NS/NA
LUAD	Lung adenocarcinoma	-0.191	2.84e-05	21	456	-0.244	1.82e-33	Decreased
LUSC	Lung squamous cell carcinoma	-0.384	1.07e-14	8	370	NA	NA	NS/NA
OV	Ovarian serous cystadenocarcinoma	-0.2	0.613	0	9	NA	NA	NS/NA
PAAD	Pancreatic adenocarcinoma	-0.122	0.101	4	179	NA	NA	NS/NA
PCPG	Pheochromocytoma and Paraganglioma	-0.045	0.537	3	184	NA	NA	NS/NA
PRAD	Prostate adenocarcinoma	-0.132	0.00225	35	498	-0.047	0.00141	NS/NA
READ	Rectum adenocarcinoma	-0.161	0.108	2	99	NA	NA	NS/NA
SARC	Sarcoma	-0.195	0.00149	0	263	NA	NA	NS/NA
SKCM	Skin Cutaneous Melanoma	-0.134	0.00357	1	471	NA	NA	NS/NA
STAD	Stomach adenocarcinoma	-0.121	0.0193	0	372	NA	NA	NS/NA
TGCT	Testicular Germ Cell Tumors	-0.574	0	0	156	NA	NA	NS/NA
THCA	Thyroid carcinoma	-0.057	0.18	50	509	-0.001	0.2	NS/NA
THYM	Thymoma	-0.457	1.7e-07	2	120	NA	NA	NS/NA
UCEC	Uterine Corpus Endometrial Carcinoma	-0.036	0.44	34	431	-0.206	3.97e-07	Decreased

Summary
Symbol	EP400
Name	E1A binding protein p400
Aliases	CAGH32; KIAA1498; P400; KIAA1818; DKFZP434I225; TNRC12; trinucleotide repeat containing 12; CAG repeat prote ......
Location	12q24.33
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Primary tumor tissue from TCGA > Normal tumor tissue from HPA

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

> The Human Protein Atlas (HPA)

[ TOP ]

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

Summary
Symbol	EP400
Name	E1A binding protein p400
Aliases	CAGH32; KIAA1498; P400; KIAA1818; DKFZP434I225; TNRC12; trinucleotide repeat containing 12; CAG repeat prote ......
Location	12q24.33
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	0.651	NS	24476821
BRCA	Breast invasive carcinoma	521	8.45e-06	Significant	23000897
COAD	Colon adenocarcinoma	149	0.327	NS	22810696
GBM	Glioblastoma multiforme	157	6.35e-05	Significant	26824661
HNSC	Head and Neck squamous cell carcinoma	279	0.016	Significant	25631445
KIRP	Kidney renal papillary cell carcinoma	161	0.000649	Significant	26536169
LGG	Brain Lower Grade Glioma	513	6.02e-08	Significant	26824661
LUAD	Lung adenocarcinoma	230	0.0184	Significant	25079552
LUSC	Lung squamous cell carcinoma	178	0.00455	Significant	22960745
OV	Ovarian serous cystadenocarcinoma	287	0.00528	Significant	21720365
PRAD	Prostate adenocarcinoma	333	1.01e-06	Significant	26544944
READ	Rectum adenocarcinoma	67	0.828	NS	22810696
SKCM	Skin Cutaneous Melanoma	315	0.537	NS	26091043
STAD	Stomach adenocarcinoma	277	0.00155	Significant	25079317
THCA	Thyroid carcinoma	391	0.00473	Significant	25417114
UCEC	Uterine Corpus Endometrial Carcinoma	232	0.56	NS	23636398

> Overall survival

[ TOP ]

Overall survival analysis based on expression.

Cancer	Full Name	# Patients	Hazard Ratio	P Value (Log Rank Test)	Association
BLCA	Bladder urothelial carcinoma	405	0.891	0.574	NS
BRCA	Breast invasive carcinoma	1079	0.957	0.846	NS
CESC	Cervical and endocervical cancers	291	1.158	0.651	NS
COAD	Colon adenocarcinoma	439	1.122	0.699	NS
ESCA	Esophageal carcinoma	184	0.696	0.261	NS
GBM	Glioblastoma multiforme	158	0.997	0.991	NS
HNSC	Head and Neck squamous cell carcinoma	518	0.746	0.133	NS
KIRC	Kidney renal clear cell carcinoma	531	1.458	0.073	NS
KIRP	Kidney renal papillary cell carcinoma	287	1.474	0.374	NS
LAML	Acute Myeloid Leukemia	149	0.941	0.816	NS
LGG	Brain Lower Grade Glioma	511	1.126	0.659	NS
LIHC	Liver hepatocellular carcinoma	365	1.312	0.244	NS
LUAD	Lung adenocarcinoma	502	0.984	0.937	NS
LUSC	Lung squamous cell carcinoma	494	0.887	0.545	NS
OV	Ovarian serous cystadenocarcinoma	303	1.021	0.921	NS
PAAD	Pancreatic adenocarcinoma	177	0.607	0.0929	NS
PCPG	Pheochromocytoma and Paraganglioma	179	713179465.443	0.124	NS
PRAD	Prostate adenocarcinoma	497	0.969	0.973	NS
READ	Rectum adenocarcinoma	159	0.703	0.518	NS
SARC	Sarcoma	259	1.327	0.317	NS
SKCM	Skin Cutaneous Melanoma	459	1.657	0.00658	Shorter
STAD	Stomach adenocarcinoma	388	0.798	0.315	NS
TGCT	Testicular Germ Cell Tumors	134	1.182	0.906	NS
THCA	Thyroid carcinoma	500	560022320.773	0.0525	NS
THYM	Thymoma	119	0.366	0.359	NS
UCEC	Uterine Corpus Endometrial Carcinoma	543	0.64	0.125	NS

> Stage

[ TOP ]

Association between expresson and stage.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
BLCA	Bladder urothelial carcinoma	406	-0.072	0.15	NS
BRCA	Breast invasive carcinoma	1071	0.014	0.646	NS
CESC	Cervical and endocervical cancers	167	0.051	0.51	NS
COAD	Colon adenocarcinoma	445	-0.046	0.333	NS
ESCA	Esophageal carcinoma	162	0.005	0.95	NS
HNSC	Head and Neck squamous cell carcinoma	448	-0.078	0.101	NS
KIRC	Kidney renal clear cell carcinoma	531	0.03	0.485	NS
KIRP	Kidney renal papillary cell carcinoma	260	0.03	0.636	NS
LIHC	Liver hepatocellular carcinoma	347	0.148	0.00586	Higher
LUAD	Lung adenocarcinoma	507	0.076	0.0882	NS
LUSC	Lung squamous cell carcinoma	497	0.062	0.166	NS
OV	Ovarian serous cystadenocarcinoma	302	-0.118	0.0401	Lower
PAAD	Pancreatic adenocarcinoma	176	-0.115	0.129	NS
READ	Rectum adenocarcinoma	156	-0.045	0.578	NS
SKCM	Skin Cutaneous Melanoma	410	-0.044	0.369	NS
STAD	Stomach adenocarcinoma	392	0.065	0.2	NS
TGCT	Testicular Germ Cell Tumors	81	-0.215	0.0537	NS
THCA	Thyroid carcinoma	499	-0.007	0.878	NS
UCEC	Uterine Corpus Endometrial Carcinoma	501	-0.05	0.266	NS

> Grade

[ TOP ]

Association between expresson and grade.

Cancer	Full Name	# Patients	R Value (Spearman)	P Value (Spearman)	Association
CESC	Cervical and endocervical cancers	272	0.036	0.557	NS
HNSC	Head and Neck squamous cell carcinoma	498	0.085	0.0594	NS
KIRC	Kidney renal clear cell carcinoma	525	0.021	0.631	NS
LGG	Brain Lower Grade Glioma	514	-0.007	0.867	NS
LIHC	Liver hepatocellular carcinoma	366	0.122	0.0194	Higher
OV	Ovarian serous cystadenocarcinoma	296	0.079	0.175	NS
PAAD	Pancreatic adenocarcinoma	176	-0.08	0.293	NS
STAD	Stomach adenocarcinoma	406	0.051	0.303	NS
UCEC	Uterine Corpus Endometrial Carcinoma	534	-0.062	0.155	NS

Summary
Symbol	EP400
Name	E1A binding protein p400
Aliases	CAGH32; KIAA1498; P400; KIAA1818; DKFZP434I225; TNRC12; trinucleotide repeat containing 12; CAG repeat prote ......
Location	12q24.33
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	EP400
Name	E1A binding protein p400
Aliases	CAGH32; KIAA1498; P400; KIAA1818; DKFZP434I225; TNRC12; trinucleotide repeat containing 12; CAG repeat prote ......
Location	12q24.33
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 EP400.

Summary
Symbol	EP400
Name	E1A binding protein p400
Aliases	CAGH32; KIAA1498; P400; KIAA1818; DKFZP434I225; TNRC12; trinucleotide repeat containing 12; CAG repeat prote ......
Location	12q24.33
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Cancer Gene Databases	ONGene (Oncogene) , TSGene (Tumor suppressor gene) , NCG (Network of Cancer Genes)
Content	> Protein-Protein Interaction Network > miRNA Regulatory Relationship > Interactions from Text Mining

> Protein-Protein Interaction Network [ TOP ]

> miRNA Regulatory Relationship [ TOP ]

> Interactions from Text Mining

[ TOP ]

PMID	Cancer	Hierarchy	Gene	Relation to CR	Evidence
26625313	Bladder Carcinoma	partner	MLL; PRDM2; ANK3; CHD5	exclusively alteration	We uncovered that MLL, EP400, PRDM2, ANK3 and CHD5 exclusively altered in recurrent BCs.
23806526	Ossifying Fibromyxoid Tumor	partner	PHF1	Fusion	We present an ossifying fibromyxoid tumor case with the EP400-PHF1 fusion gene detected by reverse transcriptase polymerase chain reaction, along with compatible cytogenetic data showing a t(6;12)(p21;q24.3) translocation.
24285434	Ossifying Fibromyxoid Tumor	partner	PHF1	Fusion	The most common abnormality is PHF1 gene rearrangement (80%), being present in benign, atypical and malignant lesions, with fusion to EP400 in 44% of cases.