Entrez Gene

Basic Information
Gene ID	639
Name	PRDM1
Synonymous	PR domain containing 1, with ZNF domain;PRDM1;PR domain containing 1, with ZNF domain
Definition	B-lymphocyte-induced maturation protein 1\|BLIMP-1\|PR domain zinc finger protein 1\|PRDI-binding factor-1\|beta-interferon gene positive-regulatory domain I binding factor
Position	6q21
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.30.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1260G>T; p.L420L; 6:106105528-106105528	pancreas	carcinoma	Substitution - coding silent
c.184-1G>A; p.?; 6:106095614-106095614	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.357_358delAA; p.S120fs*32; 6:106099353-106099354	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.1078C>T; p.P360S; 6:106105346-106105346	thyroid	other; neoplasm	Substitution - Missense
c.1685G>A; p.S562N; 6:106106390-106106390	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.400G>A; p.E134K; 6:106099396-106099396	skin	malignant_melanoma	Substitution - Missense
c.1326G>T; p.L442F; 6:106105594-106105594	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1644C>T; p.F548F; 6:106105912-106105912	breast	carcinoma	Substitution - coding silent
c.400G>A; p.E134K; 6:106099396-106099396	skin	malignant_melanoma	Substitution - Missense
c.1412A>G; p.D471G; 6:106105680-106105680	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1412A>G; p.D471G; 6:106105680-106105680	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.558A>T; p.T186T; 6:106104826-106104826	skin	malignant_melanoma	Substitution - coding silent
c.119C>T; p.S40L; 6:106088385-106088385	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.661G>T; p.D221Y; 6:106104929-106104929	liver	carcinoma	Substitution - Missense
c.661G>T; p.D221Y; 6:106104929-106104929	liver	carcinoma	Substitution - Missense
c.661G>T; p.D221Y; 6:106104929-106104929	liver	carcinoma	Substitution - Missense
c.2307C>T; p.S769S; 6:106107423-106107423	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1421G>A; p.C474Y; 6:106105689-106105689	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2303C>T; p.P768L; 6:106107419-106107419	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1366C>T; p.P456S; 6:106105634-106105634	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2126T>C; p.V709A; 6:106107242-106107242	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.846C>T; p.I282I; 6:106105114-106105114	skin	malignant_melanoma	Substitution - coding silent
c.846C>T; p.I282I; 6:106105114-106105114	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.846C>T; p.I282I; 6:106105114-106105114	skin	malignant_melanoma	Substitution - coding silent
c.784G>A; p.V262I; 6:106105052-106105052	liver	carcinoma	Substitution - Missense
c.784G>A; p.V262I; 6:106105052-106105052	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.695G>A; p.R232H; 6:106104963-106104963	urinary_tract; bladder	carcinoma	Substitution - Missense
c.626_627delAG; p.E211fs*23; 6:106104894-106104895	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.175_176insCACCAACA; p.S59fs*10; 6:106088441-106088442	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Insertion - Frameshift
c.756C>T; p.S252S; 6:106105024-106105024	liver	carcinoma	Substitution - coding silent
c.756C>T; p.S252S; 6:106105024-106105024	liver	carcinoma	Substitution - coding silent
c.1163G>T; p.G388V; 6:106105431-106105431	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.205G>T; p.E69*; 6:106095636-106095636	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.227G>A; p.R76H; 6:106095658-106095658	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1107G>A; p.S369S; 6:106105375-106105375	skin	malignant_melanoma	Substitution - coding silent
c.472C>A; p.Q158K; 6:106099468-106099468	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.594_595delGA; p.N200fs*1; 6:106104862-106104863	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.1673T>C; p.L558P; 6:106106378-106106378	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.823A>C; p.K275Q; 6:106105091-106105091	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1925A>C; p.K642T; 6:106107041-106107041	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.1555A>G; p.N519D; 6:106105823-106105823	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1246G>A; p.G416S; 6:106105514-106105514	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.425A>G; p.N142S; 6:106099421-106099421	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.425A>G; p.N142S; 6:106099421-106099421	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.101G>A; p.G34D; 6:106088367-106088367	skin; extremity	malignant_melanoma	Substitution - Missense
c.1747C>T; p.Q583*; 6:106106452-106106452	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.1489G>A; p.A497T; 6:106105757-106105757	pancreas	carcinoma	Substitution - Missense
c.1148G>A; p.G383D; 6:106105416-106105416	central_nervous_system; brain	glioma	Substitution - Missense
c.38G>A; p.W13*; 6:106088304-106088304	skin	malignant_melanoma	Substitution - Nonsense
c.635A>G; p.Y212C; 6:106104903-106104903	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2279A>C; p.D760A; 6:106107395-106107395	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1808G>A; p.R603K; 6:106106924-106106924	skin	malignant_melanoma	Substitution - Missense
c.717A>G; p.T239T; 6:106104985-106104985	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.124_127delCAGG; p.Q42fs*23; 6:106088390-106088393	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.778C>T; p.R260W; 6:106105046-106105046	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1893G>A; p.K631K; 6:106107009-106107009	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1412A>C; p.D471A; 6:106105680-106105680	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.556+1G>C; p.?; 6:106099553-106099553	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Unknown
c.517_523delCACTACC; p.H173fs*6; 6:106099513-106099519	pancreas	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.517_523delCACTACC; p.H173fs*6; 6:106099513-106099519	pancreas	carcinoma	Deletion - Frameshift
c.830C>T; p.S277F; 6:106105098-106105098	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1772G>A; p.G591E; 6:106106477-106106477	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.304-3C>T; p.?; 6:106099297-106099297	kidney	other; neoplasm	Unknown
c.353A>G; p.E118G; 6:106099349-106099349	breast	carcinoma	Substitution - Missense
c.144A>G; p.P48P; 6:106088410-106088410	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1860G>A; p.E620E; 6:106106976-106106976	skin	malignant_melanoma	Substitution - coding silent
c.989G>A; p.G330D; 6:106105257-106105257	skin	malignant_melanoma	Substitution - Missense
c.421C>G; p.Q141E; 6:106099417-106099417	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.968C>T; p.T323M; 6:106105236-106105236	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.968C>T; p.T323M; 6:106105236-106105236	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.968C>T; p.T323M; 6:106105236-106105236	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.303+1G>T; p.R101fs; 6:106095735-106095735	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.1396G>A; p.A466T; 6:106105664-106105664	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.647A>G; p.E216G; 6:106104915-106104915	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1367C>G; p.P456R; 6:106105635-106105635	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1611C>A; p.I537I; 6:106105879-106105879	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2036C>T; p.A679V; 6:106107152-106107152	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.497G>C; p.R166P; 6:106099493-106099493	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1515C>A; p.P505P; 6:106105783-106105783	liver	carcinoma	Substitution - coding silent
c.1515C>A; p.P505P; 6:106105783-106105783	liver	carcinoma	Substitution - coding silent
c.1706G>A; p.C569Y; 6:106106411-106106411	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1705T>C; p.C569R; 6:106106410-106106410	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1101C>T; p.I367I; 6:106105369-106105369	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.894T>C; p.T298T; 6:106105162-106105162	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1694G>A; p.R565Q; 6:106106399-106106399	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2239G>A; p.G747R; 6:106107355-106107355	skin	malignant_melanoma	Substitution - Missense
c.209A>G; p.Y70C; 6:106095640-106095640	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.143C>G; p.P48R; 6:106088409-106088409	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.732C>T; p.L244L; 6:106105000-106105000	skin	malignant_melanoma	Substitution - coding silent
c.1131C>T; p.F377F; 6:106105399-106105399	skin	malignant_melanoma	Substitution - coding silent
c.1565G>A; p.G522D; 6:106105833-106105833	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Missense
c.869G>A; p.R290H; 6:106105137-106105137	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2077G>C; p.E693Q; 6:106107193-106107193	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.1089G>A; p.P363P; 6:106105357-106105357	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1089G>A; p.P363P; 6:106105357-106105357	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1885C>T; p.P629S; 6:106107001-106107001	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1087C>T; p.P363S; 6:106105355-106105355	skin	malignant_melanoma	Substitution - Missense
c.131A>T; p.E44V; 6:106088397-106088397	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.988G>T; p.G330C; 6:106105256-106105256	central_nervous_system; brain	glioma	Substitution - Missense
c.1694delG; p.P566fs*73; 6:106106399-106106399	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Deletion - Frameshift
c.182A>G; p.E61G; 6:106088448-106088448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.733_734delGA; p.D245fs*1; 6:106105001-106105002	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.733_734delGA; p.D245fs*1; 6:106105001-106105002	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.733_734delGA; p.D245fs*1; 6:106105001-106105002	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.733_734delGA; p.D245fs*1; 6:106105001-106105002	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.183G>C; p.E61fs; 6:106088449-106088449	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.183G>C; p.E61fs; 6:106088449-106088449	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.183G>C; p.E61fs; 6:106088449-106088449	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.183G>C; p.E61fs; 6:106088449-106088449	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.1365G>A; p.A455A; 6:106105633-106105633	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.181G>A; p.E61K; 6:106088447-106088447	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1924A>G; p.K642E; 6:106107040-106107040	ovary	carcinoma	Substitution - Missense
c.1844G>C; p.R615P; 6:106106960-106106960	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.37_183+46del193; p.?; 6:106088303-106088449	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.1448C>T; p.A483V; 6:106105716-106105716	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1618_1619insA; p.C541fs*56; 6:106105886-106105887	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Insertion - Frameshift
c.143C>T; p.P48L; 6:106088409-106088409	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1448C>T; p.A483V; 6:106105716-106105716	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1849C>T; p.H617Y; 6:106106965-106106965	skin	malignant_melanoma	Substitution - Missense
c.1261C>T; p.P421S; 6:106105529-106105529	liver	carcinoma	Substitution - Missense
c.1261C>T; p.P421S; 6:106105529-106105529	liver	carcinoma	Substitution - Missense
c.1132C>T; p.L378F; 6:106105400-106105400	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.790C>T; p.P264S; 6:106105058-106105058	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.287G>T; p.R96M; 6:106095718-106095718	pancreas	carcinoma	Substitution - Missense
c.1015G>A; p.A339T; 6:106105283-106105283	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.15G>A; p.M5I; 6:106088281-106088281	skin	malignant_melanoma	Substitution - Missense
c.1810_1819del10; p.F604fs*32; 6:106106926-106106935	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.835G>A; p.A279T; 6:106105103-106105103	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.646G>T; p.E216*; 6:106104914-106104914	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.646G>T; p.E216*; 6:106104914-106104914	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.609C>A; p.C203*; 6:106104877-106104877	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK_cell_leukaemia	Substitution - Nonsense
c.609C>A; p.C203*; 6:106104877-106104877	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Substitution - Nonsense
c.288G>A; p.R96R; 6:106095719-106095719	skin	malignant_melanoma	Substitution - coding silent
c.226C>T; p.R76C; 6:106095657-106095657	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2082C>T; p.I694I; 6:106107198-106107198	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.288G>A; p.R96R; 6:106095719-106095719	skin	malignant_melanoma	Substitution - coding silent
c.2176G>A; p.V726M; 6:106107292-106107292	central_nervous_system; brain	glioma	Substitution - Missense
c.1040C>T; p.T347M; 6:106105308-106105308	skin	malignant_melanoma	Substitution - Missense
c.1040C>T; p.T347M; 6:106105308-106105308	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1704A>T; p.K568N; 6:106106409-106106409	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2027C>T; p.A676V; 6:106107143-106107143	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2066G>A; p.R689Q; 6:106107182-106107182	skin	malignant_melanoma	Substitution - Missense
c.646G>A; p.E216K; 6:106104914-106104914	skin	malignant_melanoma	Substitution - Missense
c.951C>A; p.H317Q; 6:106105219-106105219	liver	carcinoma	Substitution - Missense
c.1602C>T; p.N534N; 6:106105870-106105870	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1419C>T; p.A473A; 6:106105687-106105687	skin	malignant_melanoma	Substitution - coding silent
c.1564G>A; p.G522S; 6:106105832-106105832	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2164G>A; p.E722K; 6:106107280-106107280	skin	malignant_melanoma	Substitution - Missense
c.142C>A; p.P48T; 6:106088408-106088408	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2361G>T; p.M787I; 6:106107477-106107477	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1521C>A; p.S507R; 6:106105789-106105789	breast	carcinoma	Substitution - Missense
c.1545A>T; p.K515N; 6:106105813-106105813	thyroid	other; neoplasm	Substitution - Missense
c.125_128delAGGC; p.Q42fs*23; 6:106088391-106088394	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.1142C>G; p.P381R; 6:106105410-106105410	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2174C>T; p.A725V; 6:106107290-106107290	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1537C>T; p.L513F; 6:106105805-106105805	skin	malignant_melanoma	Substitution - Missense
c.640G>A; p.V214M; 6:106104908-106104908	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.640G>A; p.V214M; 6:106104908-106104908	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.640G>A; p.V214M; 6:106104908-106104908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1191C>T; p.G397G; 6:106105459-106105459	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.556+1G>A; p.?; 6:106099553-106099553	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.606C>A; p.L202L; 6:106104874-106104874	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1733A>C; p.Q578P; 6:106106438-106106438	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.247G>A; p.E83K; 6:106095678-106095678	NS	malignant_melanoma	Substitution - Missense
c.501C>G; p.D167E; 6:106099497-106099497	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.247G>A; p.E83K; 6:106095678-106095678	skin	malignant_melanoma	Substitution - Missense
c.501C>G; p.D167E; 6:106099497-106099497	thyroid	other; neoplasm	Substitution - Missense
c.556+8G>T; p.?; 6:106099560-106099560	ovary	other; neoplasm	Unknown
c.748C>T; p.R250C; 6:106105016-106105016	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.556+8G>T; p.?; 6:106099560-106099560	ovary	other; neoplasm	Unknown
c.1627G>A; p.V543I; 6:106105895-106105895	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.779G>T; p.R260L; 6:106105047-106105047	oesophagus	carcinoma	Substitution - Missense
c.2127G>T; p.V709V; 6:106107243-106107243	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1844G>A; p.R615Q; 6:106106960-106106960	skin	malignant_melanoma	Substitution - Missense
c.128C>T; p.A43V; 6:106088394-106088394	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.496C>T; p.R166W; 6:106099492-106099492	breast	carcinoma	Substitution - Missense
c.557_567del11; p.T186fs*9; 6:106104825-106104835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Deletion - Frameshift
c.183G>A; p.E62fs; 6:106088449-106088449	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.183G>A; p.E62fs; 6:106088449-106088449	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.183G>A; p.E62fs; 6:106088449-106088449	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.183G>A; p.E62fs; 6:106088449-106088449	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.183G>A; p.E62fs; 6:106088449-106088449	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.183G>A; p.E62fs; 6:106088449-106088449	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Unknown
c.183+2T>G; p.E61fs; 6:106088451-106088451	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.911G>A; p.R304K; 6:106105179-106105179	liver	carcinoma	Substitution - Missense
c.1964A>T; p.Q655L; 6:106107080-106107080	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.454A>C; p.K152Q; 6:106099450-106099450	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.183+2T>G; p.E61fs; 6:106088451-106088451	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.911G>A; p.R304K; 6:106105179-106105179	liver	carcinoma	Substitution - Missense
c.2194G>T; p.E732*; 6:106107310-106107310	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.183+2T>G; p.E61fs; 6:106088451-106088451	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.522C>A; p.Y174*; 6:106099518-106099518	haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity	lymphoid_neoplasm; NK-T_cell_lymphoma	Substitution - Nonsense
c.37_38delTG; p.W13fs*4; 6:106088303-106088304	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.903_904insC; p.S302fs*86; 6:106105171-106105172	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Insertion - Frameshift
c.1051G>T; p.G351C; 6:106105319-106105319	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1435delG; p.S480fs*32; 6:106105703-106105703	liver	carcinoma	Deletion - Frameshift
c.1633G>A; p.A545T; 6:106105901-106105901	breast	carcinoma	Substitution - Missense
c.554T>G; p.L185R; 6:106099550-106099550	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.271C>T; p.P91S; 6:106095702-106095702	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.445T>G; p.Y149D; 6:106099441-106099441	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.306C>G; p.I102M; 6:106099302-106099302	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1245C>T; p.L415L; 6:106105513-106105513	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1035C>T; p.Y345Y; 6:106105303-106105303	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1742A>G; p.H581R; 6:106106447-106106447	breast	carcinoma	Substitution - Missense
c.721G>T; p.E241*; 6:106104989-106104989	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; anaplastic_large_cell_lymphoma	Substitution - Nonsense
c.1961C>T; p.S654F; 6:106107077-106107077	skin	malignant_melanoma	Substitution - Missense
c.2022C>T; p.C674C; 6:106107138-106107138	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.976C>T; p.P326S; 6:106105244-106105244	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.371G>T; p.R124L; 6:106099367-106099367	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.540G>A; p.L180L; 6:106099536-106099536	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1106C>T; p.S369L; 6:106105374-106105374	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.233G>A; p.G78E; 6:106095664-106095664	skin	malignant_melanoma	Substitution - Missense
c.540G>A; p.L180L; 6:106099536-106099536	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1347G>A; p.R449R; 6:106105615-106105615	skin	malignant_melanoma	Substitution - coding silent
c.997G>A; p.E333K; 6:106105265-106105265	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.904T>C; p.S302P; 6:106105172-106105172	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.791C>T; p.P264L; 6:106105059-106105059	skin	malignant_melanoma	Substitution - Missense
c.1494C>A; p.T498T; 6:106105762-106105762	breast	carcinoma	Substitution - coding silent
c.549G>A; p.M183I; 6:106099545-106099545	urinary_tract; bladder	carcinoma	Substitution - Missense
c.549G>A; p.M183I; 6:106099545-106099545	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2015G>A; p.G672E; 6:106107131-106107131	skin	malignant_melanoma	Substitution - Missense
c.1979A>G; p.Y660C; 6:106107095-106107095	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.183+4A>G; p.?; 6:106088453-106088453	skin; arm	malignant_melanoma	Unknown
c.76_95del20; p.V26fs*4; 6:106088342-106088361	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.1459G>A; p.A487T; 6:106105727-106105727	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1459G>A; p.A487T; 6:106105727-106105727	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.143C>A; p.P48Q; 6:106088409-106088409	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.143C>A; p.P48Q; 6:106088409-106088409	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.35T>A; p.L12Q; 6:106088301-106088301	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1343C>A; p.P448H; 6:106105611-106105611	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1335_1336insA; p.E446fs*30; 6:106105603-106105604	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Insertion - Frameshift
c.114T>A; p.G38G; 6:106088380-106088380	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1262C>A; p.P421H; 6:106105530-106105530	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2118C>T; p.L706L; 6:106107234-106107234	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.601G>A; p.E201K; 6:106104869-106104869	breast	carcinoma	Substitution - Missense
c.963G>A; p.G321G; 6:106105231-106105231	skin	malignant_melanoma	Substitution - coding silent
c.754A>G; p.S252G; 6:106105022-106105022	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.111_111C>GG; p.T39fs*22; 6:106088377-106088377	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Complex - frameshift
c.578_579insA; p.Q194fs*5; 6:106104846-106104847	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Insertion - Frameshift
c.939C>G; p.S313R; 6:106105207-106105207	breast	carcinoma	Substitution - Missense
c.312C>T; p.S104S; 6:106099308-106099308	skin	malignant_melanoma	Substitution - coding silent
c.842G>A; p.G281E; 6:106105110-106105110	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.445T>A; p.Y149N; 6:106099441-106099441	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1084C>T; p.L362F; 6:106105352-106105352	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2160G>A; p.E720E; 6:106107276-106107276	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.869G>T; p.R290L; 6:106105137-106105137	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.686A>G; p.D229G; 6:106104954-106104954	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1003C>A; p.R335R; 6:106105271-106105271	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2183G>A; p.R728K; 6:106107299-106107299	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1003C>A; p.R335R; 6:106105271-106105271	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1794+2T>A; p.V599fs; 6:106106501-106106501	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.666C>T; p.S222S; 6:106104934-106104934	skin	malignant_melanoma	Substitution - coding silent
c.303+1G>A; p.?; 6:106095735-106095735	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.1708C>T; p.Q570*; 6:106106413-106106413	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; anaplastic_large_cell_lymphoma	Substitution - Nonsense
c.137C>G; p.S46C; 6:106088403-106088403	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2170C>T; p.L724L; 6:106107286-106107286	skin; upper_back	malignant_melanoma	Substitution - coding silent
c.14T>C; p.M5T; 6:106088280-106088280	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1565_1665+144del245; p.?; 6:106105833-106105933	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.1403G>A; p.S468N; 6:106105671-106105671	skin; trunk	malignant_melanoma	Substitution - Missense
c.137C>G; p.S46C; 6:106088403-106088403	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2119G>A; p.E707K; 6:106107235-106107235	breast	carcinoma	Substitution - Missense
c.55_56ins10; p.E19fs*2; 6:106088321-106088322	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; primary_effusion_lymphoma	Insertion - Frameshift
c.953G>A; p.S318N; 6:106105221-106105221	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.520T>C; p.Y174H; 6:106099516-106099516	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1433G>A; p.S478N; 6:106105701-106105701	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.413C>A; p.A138D; 6:106099409-106099409	urinary_tract; bladder	carcinoma	Substitution - Missense
c.632_633delAG; p.E211fs*23; 6:106104900-106104901	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift
c.632_633delAG; p.E211fs*23; 6:106104900-106104901	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Deletion - Frameshift

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]