Entrez Gene

Basic Information
Gene ID	7053
Name	TGM3
Synonymous	transglutaminase 3;TGM3;transglutaminase 3
Definition	E polypeptide, protein-glutamine-gamma-glutamyltransferase\|TG(E)\|TGase E\|TGase-3\|protein-glutamine gamma-glutamyltransferase E\|transglutaminase E\|transglutaminase-3
Position	20q11.2
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 0.07.

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.1171G>A; p.A391T; 20:2328203-2328203	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.755G>A; p.G252D; 20:2317153-2317153	skin	malignant_melanoma	Substitution - Missense
c.259G>A; p.V87M; 20:2310255-2310255	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1037C>T; p.S346L; 20:2325902-2325902	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1649A>C; p.E550A; 20:2335122-2335122	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.210G>A; p.T70T; 20:2310206-2310206	skin	malignant_melanoma	Substitution - coding silent
c.63C>T; p.H21H; 20:2309712-2309712	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.849G>A; p.A283A; 20:2317351-2317351	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1820T>G; p.V607G; 20:2339873-2339873	urinary_tract; bladder	carcinoma	Substitution - Missense
c.599G>A; p.R200H; 20:2312956-2312956	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.565T>A; p.C189S; 20:2312922-2312922	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1188C>T; p.D396D; 20:2328220-2328220	skin	malignant_melanoma	Substitution - coding silent
c.2041C>A; p.P681T; 20:2340540-2340540	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.28A>G; p.N10D; 20:2309677-2309677	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1305C>T; p.D435D; 20:2328337-2328337	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1982T>C; p.I661T; 20:2340481-2340481	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.848-6T>G; p.?; 20:2317344-2317344	oesophagus	carcinoma; adenocarcinoma	Unknown
c.988T>G; p.F330V; 20:2325853-2325853	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.785A>T; p.K262I; 20:2317183-2317183	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.857C>T; p.S286F; 20:2317359-2317359	skin	malignant_melanoma	Substitution - Missense
c.857C>T; p.S286F; 20:2317359-2317359	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1238C>T; p.S413F; 20:2328270-2328270	skin	malignant_melanoma	Substitution - Missense
c.602G>A; p.R201H; 20:2312959-2312959	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.602G>A; p.R201H; 20:2312959-2312959	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1038G>T; p.S346S; 20:2325903-2325903	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.38C>T; p.T13M; 20:2309687-2309687	large_intestine; colon	NS	Substitution - Missense
c.315C>A; p.S105R; 20:2310311-2310311	urinary_tract; bladder	carcinoma	Substitution - Missense
c.315C>A; p.S105R; 20:2310311-2310311	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1956G>A; p.K652K; 20:2340455-2340455	skin	malignant_melanoma	Substitution - coding silent
c.1960G>C; p.G654R; 20:2340459-2340459	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1960G>C; p.G654R; 20:2340459-2340459	thyroid	other; neoplasm	Substitution - Missense
c.1959G>T; p.E653D; 20:2340458-2340458	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.158G>T; p.R53I; 20:2309807-2309807	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.258G>A; p.A86A; 20:2310254-2310254	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1809C>A; p.N603K; 20:2339862-2339862	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.528G>A; p.W176*; 20:2311117-2311117	skin	malignant_melanoma	Substitution - Nonsense
c.804C>T; p.V268V; 20:2317202-2317202	skin	malignant_melanoma	Substitution - coding silent
c.1972C>T; p.R658C; 20:2340471-2340471	skin	malignant_melanoma	Substitution - Missense
c.1972C>T; p.R658C; 20:2340471-2340471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.328C>T; p.R110W; 20:2310324-2310324	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1172C>T; p.A391V; 20:2328204-2328204	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.601C>T; p.R201C; 20:2312958-2312958	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.607G>A; p.A203T; 20:2312964-2312964	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.607G>A; p.A203T; 20:2312964-2312964	pancreas	carcinoma; adenocarcinoma	Substitution - Missense
c.1543G>T; p.V515L; 20:2332211-2332211	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.417G>A; p.L139L; 20:2310413-2310413	skin	malignant_melanoma	Substitution - coding silent
c.1336T>G; p.S446A; 20:2332004-2332004	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.385G>A; p.G129R; 20:2310381-2310381	skin; nipple	malignant_melanoma	Substitution - Missense
c.2020G>A; p.D674N; 20:2340519-2340519	central_nervous_system; brain	glioma	Substitution - Missense
c.316G>A; p.A106T; 20:2310312-2310312	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1770C>T; p.I590I; 20:2335243-2335243	skin	malignant_melanoma	Substitution - coding silent
c.1933G>A; p.D645N; 20:2339986-2339986	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2068G>A; p.D690N; 20:2340567-2340567	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1344G>A; p.Q448Q; 20:2332012-2332012	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1836C>T; p.N612N; 20:2339889-2339889	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.208A>T; p.T70S; 20:2310204-2310204	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.950G>A; p.G317E; 20:2317452-2317452	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.950G>A; p.G317E; 20:2317452-2317452	skin	malignant_melanoma	Substitution - Missense
c.739C>T; p.P247S; 20:2317137-2317137	skin	malignant_melanoma	Substitution - Missense
c.626G>C; p.S209T; 20:2312983-2312983	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1371G>A; p.L457L; 20:2332039-2332039	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.705G>A; p.G235G; 20:2317103-2317103	skin	malignant_melanoma	Substitution - coding silent
c.1759G>A; p.E587K; 20:2335232-2335232	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.329G>A; p.R110Q; 20:2310325-2310325	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.979G>A; p.V327I; 20:2317481-2317481	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1311G>A; p.T437T; 20:2328343-2328343	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.979G>A; p.V327I; 20:2317481-2317481	pancreas	carcinoma	Substitution - Missense
c.1940C>T; p.P647L; 20:2340439-2340439	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.257C>T; p.A86V; 20:2310253-2310253	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1378C>T; p.L460F; 20:2332046-2332046	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1940C>T; p.P647L; 20:2340439-2340439	oesophagus	carcinoma	Substitution - Missense
c.1230G>A; p.W410*; 20:2328262-2328262	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1239C>T; p.S413S; 20:2328271-2328271	skin	malignant_melanoma	Substitution - coding silent
c.1239C>T; p.S413S; 20:2328271-2328271	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1468G>A; p.A490T; 20:2332136-2332136	oesophagus	carcinoma	Substitution - Missense
c.1404G>A; p.A468A; 20:2332072-2332072	skin	malignant_melanoma	Substitution - coding silent
c.600C>T; p.R200R; 20:2312957-2312957	skin	malignant_melanoma	Substitution - coding silent
c.2025C>T; p.F675F; 20:2340524-2340524	skin	malignant_melanoma	Substitution - coding silent
c.538C>T; p.Q180*; 20:2311127-2311127	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.538C>T; p.Q180*; 20:2311127-2311127	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1075G>C; p.E359Q; 20:2325940-2325940	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1826A>C; p.K609T; 20:2339879-2339879	skin	malignant_melanoma	Substitution - Missense
c.1402G>A; p.A468T; 20:2332070-2332070	kidney	other; neoplasm	Substitution - Missense
c.1127G>A; p.R376Q; 20:2328159-2328159	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.1571T>C; p.I524T; 20:2332239-2332239	skin	malignant_melanoma	Substitution - Missense
c.145G>A; p.G49S; 20:2309794-2309794	skin	malignant_melanoma	Substitution - Missense
c.1766A>T; p.D589V; 20:2335239-2335239	urinary_tract; bladder	carcinoma	Substitution - Missense
c.323T>A; p.I108K; 20:2310319-2310319	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1152C>T; p.F384F; 20:2328184-2328184	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1270A>G; p.S424G; 20:2328302-2328302	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.791G>T; p.G264V; 20:2317189-2317189	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.555T>C; p.I185I; 20:2312912-2312912	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.836C>A; p.T279N; 20:2317234-2317234	pancreas	carcinoma	Substitution - Missense
c.558C>T; p.L186L; 20:2312915-2312915	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.984G>A; p.W328*; 20:2325849-2325849	skin	malignant_melanoma	Substitution - Nonsense
c.984G>A; p.W328*; 20:2325849-2325849	skin	malignant_melanoma	Substitution - Nonsense
c.1694A>G; p.K565R; 20:2335167-2335167	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.375T>G; p.S125S; 20:2310371-2310371	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.10C>T; p.L4L; 20:2309659-2309659	skin	malignant_melanoma	Substitution - coding silent
c.603T>C; p.R201R; 20:2312960-2312960	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.884C>A; p.T295N; 20:2317386-2317386	breast	carcinoma	Substitution - Missense
c.1406C>T; p.T469M; 20:2332074-2332074	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2074G>A; p.A692T; 20:2340573-2340573	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.117G>A; p.Q39Q; 20:2309766-2309766	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.154G>A; p.E52K; 20:2309803-2309803	skin	malignant_melanoma	Substitution - Missense
c.973G>A; p.D325N; 20:2317475-2317475	skin; scalp	malignant_melanoma	Substitution - Missense
c.1936G>A; p.V646M; 20:2340435-2340435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.158G>A; p.R53K; 20:2309807-2309807	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1978G>A; p.D660N; 20:2340477-2340477	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1443C>A; p.P481P; 20:2332111-2332111	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.940G>A; p.D314N; 20:2317442-2317442	skin	malignant_melanoma	Substitution - Missense
c.1190G>T; p.R397L; 20:2328222-2328222	liver	carcinoma	Substitution - Missense
c.1190G>T; p.R397L; 20:2328222-2328222	liver	carcinoma	Substitution - Missense
c.1183G>A; p.A395T; 20:2328215-2328215	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.39G>T; p.T13T; 20:2309688-2309688	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.39G>T; p.T13T; 20:2309688-2309688	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.260T>C; p.V87A; 20:2310256-2310256	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1306G>A; p.V436I; 20:2328338-2328338	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.662G>A; p.S221N; 20:2313019-2313019	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.949G>A; p.G317R; 20:2317451-2317451	skin	malignant_melanoma	Substitution - Missense
c.1800G>A; p.E600E; 20:2335273-2335273	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2041C>T; p.P681S; 20:2340540-2340540	skin	malignant_melanoma	Substitution - Missense
c.40G>A; p.A14T; 20:2309689-2309689	skin	malignant_melanoma	Substitution - Missense
c.1386C>T; p.P462P; 20:2332054-2332054	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1642+1G>A; p.?; 20:2332311-2332311	skin	malignant_melanoma	Unknown
c.1414A>G; p.M472V; 20:2332082-2332082	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1944C>T; p.T648T; 20:2340443-2340443	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.968G>A; p.G323D; 20:2317470-2317470	skin	malignant_melanoma	Substitution - Missense
c.1112C>T; p.S371L; 20:2328144-2328144	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.329G>T; p.R110L; 20:2310325-2310325	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.602G>T; p.R201L; 20:2312959-2312959	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.806G>A; p.R269Q; 20:2317204-2317204	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1819G>T; p.V607L; 20:2339872-2339872	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1642G>A; p.E548K; 20:2332310-2332310	skin	malignant_melanoma	Substitution - Missense
c.1174G>A; p.E392K; 20:2328206-2328206	skin	malignant_melanoma	Substitution - Missense
c.1423G>A; p.E475K; 20:2332091-2332091	skin	malignant_melanoma	Substitution - Missense
c.1042G>A; p.G348S; 20:2325907-2325907	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.670-1G>A; p.?; 20:2317067-2317067	skin	malignant_melanoma	Unknown
c.1823G>T; p.R608L; 20:2339876-2339876	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1823G>T; p.R608L; 20:2339876-2339876	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.489C>G; p.I163M; 20:2311078-2311078	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.768C>T; p.I256I; 20:2317166-2317166	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1823G>T; p.R608L; 20:2339876-2339876	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1639G>A; p.E547K; 20:2332307-2332307	skin	malignant_melanoma	Substitution - Missense
c.726C>T; p.T242T; 20:2317124-2317124	skin	malignant_melanoma	Substitution - coding silent
c.514delG; p.G172fs*2; 20:2311103-2311103	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1806G>A; p.L602L; 20:2339859-2339859	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1029G>A; p.L343L; 20:2325894-2325894	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2064C>T; p.S688S; 20:2340563-2340563	skin	malignant_melanoma	Substitution - coding silent
c.584G>A; p.R195K; 20:2312941-2312941	skin	malignant_melanoma	Substitution - Missense
c.727G>C; p.G243R; 20:2317125-2317125	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.278G>A; p.G93D; 20:2310274-2310274	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1360C>T; p.Q454*; 20:2332028-2332028	skin	malignant_melanoma	Substitution - Nonsense
c.1374G>A; p.G458G; 20:2332042-2332042	skin	malignant_melanoma	Substitution - coding silent
c.1822C>T; p.R608W; 20:2339875-2339875	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.756C>T; p.G252G; 20:2317154-2317154	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.1374G>A; p.G458G; 20:2332042-2332042	skin	malignant_melanoma	Substitution - coding silent
c.1374G>A; p.G458G; 20:2332042-2332042	skin	malignant_melanoma	Substitution - coding silent
c.1822C>T; p.R608W; 20:2339875-2339875	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.953_954AC>TT; p.N318I; 20:2317455-2317456	skin	malignant_melanoma	Substitution - Missense
c.1823G>A; p.R608Q; 20:2339876-2339876	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1668G>A; p.S556S; 20:2335141-2335141	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.538C>A; p.Q180K; 20:2311127-2311127	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1536G>A; p.T512T; 20:2332204-2332204	skin	malignant_melanoma	Substitution - coding silent
c.1536G>A; p.T512T; 20:2332204-2332204	skin	malignant_melanoma	Substitution - coding silent
c.1536G>A; p.T512T; 20:2332204-2332204	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1351C>T; p.Q451*; 20:2332019-2332019	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1760A>G; p.E587G; 20:2335233-2335233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.746G>A; p.S249N; 20:2317144-2317144	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.955C>A; p.P319T; 20:2317457-2317457	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.955C>A; p.P319T; 20:2317457-2317457	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.759C>T; p.S253S; 20:2317157-2317157	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1570A>G; p.I524V; 20:2332238-2332238	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1582G>T; p.G528C; 20:2332250-2332250	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1391C>G; p.T464R; 20:2332059-2332059	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1712G>A; p.R571Q; 20:2335185-2335185	skin	malignant_melanoma	Substitution - Missense
c.394A>G; p.I132V; 20:2310390-2310390	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.460G>A; p.E154K; 20:2311049-2311049	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1554C>T; p.N518N; 20:2332222-2332222	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.14G>A; p.G5E; 20:2309663-2309663	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1189C>A; p.R397S; 20:2328221-2328221	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2028delC; p.C677fs*15; 20:2340527-2340527	soft_tissue; striated_muscle	rhabdomyosarcoma	Deletion - Frameshift
c.30C>A; p.N10K; 20:2309679-2309679	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.645C>T; p.Y215Y; 20:2313002-2313002	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2077G>A; p.E693K; 20:2340576-2340576	skin	malignant_melanoma	Substitution - Missense
c.645C>T; p.Y215Y; 20:2313002-2313002	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4G>A; p.A2T; 20:2296067-2296067	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.944C>A; p.P315H; 20:2317446-2317446	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1581C>T; p.N527N; 20:2332249-2332249	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.239G>A; p.S80N; 20:2310235-2310235	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1126C>T; p.R376*; 20:2328158-2328158	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.49C>T; p.R17*; 20:2309698-2309698	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Nonsense
c.568C>T; p.L190F; 20:2312925-2312925	skin	malignant_melanoma	Substitution - Missense
c.49C>T; p.R17*; 20:2309698-2309698	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1282G>C; p.V428L; 20:2328314-2328314	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1900G>A; p.G634R; 20:2339953-2339953	skin	malignant_melanoma	Substitution - Missense
c.1887_1906del20; p.L630fs*5; 20:2339940-2339959	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.1757T>A; p.V586E; 20:2335230-2335230	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.38C>A; p.T13K; 20:2309687-2309687	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1764G>A; p.R588R; 20:2335237-2335237	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.200C>T; p.S67L; 20:2310196-2310196	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.38C>A; p.T13K; 20:2309687-2309687	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.38C>A; p.T13K; 20:2309687-2309687	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.38C>A; p.T13K; 20:2309687-2309687	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.38C>A; p.T13K; 20:2309687-2309687	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.38C>A; p.T13K; 20:2309687-2309687	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.38C>A; p.T13K; 20:2309687-2309687	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1846C>T; p.L616F; 20:2339899-2339899	breast	carcinoma	Substitution - Missense
c.544G>T; p.E182*; 20:2312901-2312901	skin	malignant_melanoma	Substitution - Nonsense
c.1167C>T; p.I389I; 20:2328199-2328199	skin	malignant_melanoma	Substitution - coding silent
c.765G>T; p.E255D; 20:2317163-2317163	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1788C>A; p.T596T; 20:2335261-2335261	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1672G>A; p.A558T; 20:2335145-2335145	prostate	carcinoma	Substitution - Missense
c.312C>T; p.A104A; 20:2310308-2310308	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1214C>A; p.T405N; 20:2328246-2328246	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1695G>A; p.K565K; 20:2335168-2335168	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1108G>A; p.A370T; 20:2328140-2328140	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.853C>T; p.R285W; 20:2317355-2317355	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1941G>A; p.P647P; 20:2340440-2340440	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.1655C>T; p.P552L; 20:2335128-2335128	skin	malignant_melanoma	Substitution - Missense
c.714C>T; p.S238S; 20:2317112-2317112	breast	carcinoma	Substitution - coding silent
c.1349G>A; p.R450K; 20:2332017-2332017	skin	malignant_melanoma	Substitution - Missense
c.984-1G>A; p.?; 20:2325848-2325848	skin	malignant_melanoma	Unknown

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]