Entrez Gene

Basic Information
Gene ID	8626
Name	TP63
Synonymous	tumor protein p63;TP63;tumor protein p63
Definition	CUSP\|amplified in squamous cell carcinoma\|chronic ulcerative stomatitis protein\|keratinocyte transcription factor KET\|transformation-related protein 63\|tumor protein 63\|tumor protein p53-competing protein\|tumor protein p63 deltaN isoform delta
Position	3q28
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 0.11.

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.1049G>C; p.R350T; 3:189868636-189868636	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1016G>T; p.C339F; 3:189868603-189868603	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2029G>A; p.E677K; 3:189894488-189894488	skin	malignant_melanoma	Substitution - Missense
c.142G>A; p.E48K; 3:189737819-189737819	urinary_tract; bladder	carcinoma	Substitution - Missense
c.335C>T; p.T112M; 3:189808282-189808282	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.222G>C; p.L74F; 3:189738672-189738672	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222G>C; p.L74F; 3:189738672-189738672	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222G>C; p.L74F; 3:189738672-189738672	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.62+2T>C; p.?; 3:189631579-189631579	stomach	carcinoma; adenocarcinoma	Unknown
c.193C>T; p.P65S; 3:189738643-189738643	breast	carcinoma	Substitution - Missense
c.1885G>T; p.G629C; 3:189894344-189894344	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.731G>A; p.C244Y; 3:189864383-189864383	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.852G>A; p.Q284Q; 3:189866767-189866767	skin	malignant_melanoma	Substitution - coding silent
c.404A>G; p.N135S; 3:189808351-189808351	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.522G>A; p.P174P; 3:189808469-189808469	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.522G>A; p.P174P; 3:189808469-189808469	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.432G>T; p.T144T; 3:189808379-189808379	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1409A>G; p.N470S; 3:189886453-189886453	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.797G>A; p.R266Q; 3:189866712-189866712	skin	malignant_melanoma	Substitution - Missense
c.2007_2008CA>AT; p.R669>?; 3:189894466-189894467	large_intestine; colon	carcinoma; adenocarcinoma	Complex
c.1602C>T; p.T534T; 3:189889434-189889434	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.57C>A; p.I19I; 3:189631572-189631572	skin	malignant_melanoma	Substitution - coding silent
c.1971G>T; p.E657D; 3:189894430-189894430	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.985A>G; p.T329A; 3:189867935-189867935	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.700G>A; p.A234T; 3:189864352-189864352	skin	malignant_melanoma	Substitution - Missense
c.516A>G; p.P172P; 3:189808463-189808463	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1743G>A; p.M581I; 3:189890879-189890879	skin	malignant_melanoma	Substitution - Missense
c.1129C>T; p.P377S; 3:189868716-189868716	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.752G>A; p.R251H; 3:189864404-189864404	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.806G>T; p.G269V; 3:189866721-189866721	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.918C>T; p.F306F; 3:189867868-189867868	skin	malignant_melanoma	Substitution - coding silent
c.66C>T; p.F22F; 3:189737743-189737743	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.66C>T; p.F22F; 3:189737743-189737743	skin	malignant_melanoma	Substitution - coding silent
c.1995G>A; p.M665I; 3:189894454-189894454	skin	malignant_melanoma	Substitution - Missense
c.66C>T; p.F22F; 3:189737743-189737743	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1617C>T; p.P539P; 3:189889449-189889449	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.469G>T; p.D157Y; 3:189808416-189808416	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.97G>C; p.E33Q; 3:189737774-189737774	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1964G>T; p.R655L; 3:189894423-189894423	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1173G>T; p.K391N; 3:189869367-189869367	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.468C>T; p.F156F; 3:189808415-189808415	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1301C>T; p.T434M; 3:189872947-189872947	skin	malignant_melanoma	Substitution - Missense
c.97G>C; p.E33Q; 3:189737774-189737774	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1747-1G>A; p.?; 3:189894205-189894205	skin	malignant_melanoma	Unknown
c.1257G>A; p.E419E; 3:189872903-189872903	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1173G>A; p.K391K; 3:189869367-189869367	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1166C>T; p.S389F; 3:189869360-189869360	skin	malignant_melanoma	Substitution - Missense
c.1474C>T; p.P492S; 3:189886518-189886518	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.551C>G; p.S184W; 3:189808498-189808498	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1889C>G; p.S630C; 3:189894348-189894348	breast	carcinoma	Substitution - Missense
c.762C>T; p.N254N; 3:189864414-189864414	breast	carcinoma	Substitution - coding silent
c.1679C>T; p.S560L; 3:189890815-189890815	skin	malignant_melanoma	Substitution - Missense
c.713C>T; p.T238M; 3:189864365-189864365	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.987C>T; p.T329T; 3:189867937-189867937	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.398C>T; p.P133L; 3:189808345-189808345	skin	malignant_melanoma	Substitution - Missense
c.455C>A; p.P152H; 3:189808402-189808402	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.941G>C; p.G314A; 3:189867891-189867891	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.766+1G>A; p.?; 3:189864419-189864419	skin; trunk	malignant_melanoma	Unknown
c.1698G>A; p.T566T; 3:189890834-189890834	skin	malignant_melanoma	Substitution - coding silent
c.46G>A; p.D16N; 3:189631561-189631561	urinary_tract; bladder	carcinoma	Substitution - Missense
c.982G>T; p.E328*; 3:189867932-189867932	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1928G>A; p.R643Q; 3:189894387-189894387	skin	malignant_melanoma	Substitution - Missense
c.1928G>A; p.R643Q; 3:189894387-189894387	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1928G>A; p.R643Q; 3:189894387-189894387	skin	malignant_melanoma	Substitution - Missense
c.340C>G; p.L114V; 3:189808287-189808287	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1062G>A; p.A354A; 3:189868649-189868649	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1843C>T; p.H615Y; 3:189894302-189894302	skin	malignant_melanoma	Substitution - Missense
c.203C>T; p.S68L; 3:189738653-189738653	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1221C>T; p.G407G; 3:189872867-189872867	skin	malignant_melanoma	Substitution - coding silent
c.806G>A; p.G269E; 3:189866721-189866721	skin	malignant_melanoma	Substitution - Missense
c.806G>A; p.G269E; 3:189866721-189866721	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.157G>C; p.E53Q; 3:189737834-189737834	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.485C>T; p.S162L; 3:189808432-189808432	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1253A>G; p.K418R; 3:189872899-189872899	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1416G>A; p.M472I; 3:189886460-189886460	skin	malignant_melanoma	Substitution - Missense
c.110G>A; p.R37Q; 3:189737787-189737787	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.110G>A; p.R37Q; 3:189737787-189737787	skin	malignant_melanoma	Substitution - Missense
c.336G>A; p.T112T; 3:189808283-189808283	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.336G>A; p.T112T; 3:189808283-189808283	skin	malignant_melanoma	Substitution - coding silent
c.1938C>T; p.L646L; 3:189894397-189894397	skin	malignant_melanoma	Substitution - coding silent
c.441G>A; p.S147S; 3:189808388-189808388	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.72A>G; p.E24E; 3:189737749-189737749	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.378C>T; p.N126N; 3:189808325-189808325	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.336G>A; p.T112T; 3:189808283-189808283	skin	malignant_melanoma	Substitution - coding silent
c.1190A>G; p.D397G; 3:189869384-189869384	skin	malignant_melanoma	Substitution - Missense
c.1729G>C; p.E577Q; 3:189890865-189890865	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.415G>A; p.A139T; 3:189808362-189808362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.415G>A; p.A139T; 3:189808362-189808362	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.521C>A; p.P174Q; 3:189808468-189808468	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1373C>T; p.S458L; 3:189886417-189886417	skin	malignant_melanoma	Substitution - Missense
c.926A>G; p.N309S; 3:189867876-189867876	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1273C>T; p.Q425*; 3:189872919-189872919	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.579G>A; p.T193T; 3:189808526-189808526	skin	malignant_melanoma	Substitution - coding silent
c.1163C>T; p.T388I; 3:189869357-189869357	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.987C>A; p.T329T; 3:189867937-189867937	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1373C>T; p.S458L; 3:189886417-189886417	skin	malignant_melanoma	Substitution - Missense
c.1127G>A; p.R376H; 3:189868714-189868714	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1787C>T; p.A596V; 3:189894246-189894246	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1127G>A; p.R376H; 3:189868714-189868714	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1985A>G; p.N662S; 3:189894444-189894444	skin	malignant_melanoma	Substitution - Missense
c.1964G>A; p.R655Q; 3:189894423-189894423	skin	malignant_melanoma	Substitution - Missense
c.1886G>A; p.G629D; 3:189894345-189894345	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1964G>A; p.R655Q; 3:189894423-189894423	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1993A>G; p.M665V; 3:189894452-189894452	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.579+1G>A; p.?; 3:189808527-189808527	skin	malignant_melanoma	Unknown
c.985A>C; p.T329P; 3:189867935-189867935	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.349C>T; p.L117L; 3:189808296-189808296	skin	malignant_melanoma	Substitution - coding silent
c.1177C>T; p.R393*; 3:189869371-189869371	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.568G>C; p.A190P; 3:189808515-189808515	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1936C>G; p.L646V; 3:189894395-189894395	skin	malignant_melanoma	Substitution - Missense
c.76C>G; p.P26A; 3:189737753-189737753	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.387G>A; p.S129S; 3:189808334-189808334	skin	malignant_melanoma	Substitution - coding silent
c.399C>T; p.P133P; 3:189808346-189808346	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.637A>T; p.I213F; 3:189864289-189864289	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.150C>T; p.L50L; 3:189737827-189737827	skin	malignant_melanoma	Substitution - coding silent
c.642G>A; p.K214K; 3:189864294-189864294	skin	malignant_melanoma	Substitution - coding silent
c.818C>A; p.A273D; 3:189866733-189866733	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2039A>G; p.E680G; 3:189894498-189894498	liver	carcinoma	Substitution - Missense
c.309G>C; p.L103L; 3:189738759-189738759	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1744G>A; p.D582N; 3:189890880-189890880	skin	malignant_melanoma	Substitution - Missense
c.1309C>A; p.Q437K; 3:189872955-189872955	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.348C>T; p.L116L; 3:189808295-189808295	skin	malignant_melanoma	Substitution - coding silent
c.1909C>T; p.R637C; 3:189894368-189894368	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1713C>T; p.T571T; 3:189890849-189890849	breast	carcinoma	Substitution - coding silent
c.1909C>T; p.R637C; 3:189894368-189894368	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.453G>T; p.Q151H; 3:189808400-189808400	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1415T>C; p.M472T; 3:189886459-189886459	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.379G>A; p.G127S; 3:189808326-189808326	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1135C>T; p.R379C; 3:189869329-189869329	skin	malignant_melanoma	Substitution - Missense
c.1135C>T; p.R379C; 3:189869329-189869329	skin; trunk	malignant_melanoma	Substitution - Missense
c.1135C>T; p.R379C; 3:189869329-189869329	skin	malignant_melanoma	Substitution - Missense
c.1135C>T; p.R379C; 3:189869329-189869329	skin	malignant_melanoma	Substitution - Missense
c.512A>G; p.Y171C; 3:189808459-189808459	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1135C>T; p.R379C; 3:189869329-189869329	skin	malignant_melanoma	Substitution - Missense
c.1135C>T; p.R379C; 3:189869329-189869329	skin	malignant_melanoma	Substitution - Missense
c.1135C>T; p.R379C; 3:189869329-189869329	skin	malignant_melanoma	Substitution - Missense
c.1135C>T; p.R379C; 3:189869329-189869329	skin	malignant_melanoma	Substitution - Missense
c.178G>A; p.D60N; 3:189737855-189737855	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.178G>A; p.D60N; 3:189737855-189737855	skin	malignant_melanoma	Substitution - Missense
c.1128C>T; p.R376R; 3:189868715-189868715	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.178G>A; p.D60N; 3:189737855-189737855	skin	malignant_melanoma	Substitution - Missense
c.1061C>T; p.A354V; 3:189868648-189868648	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.807G>A; p.G269G; 3:189866722-189866722	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.807G>A; p.G269G; 3:189866722-189866722	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.709G>A; p.V237I; 3:189864361-189864361	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.709G>A; p.V237I; 3:189864361-189864361	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.709G>A; p.V237I; 3:189864361-189864361	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1010G>T; p.R337L; 3:189868597-189868597	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1161G>A; p.M387I; 3:189869355-189869355	skin	malignant_melanoma	Substitution - Missense
c.677G>A; p.R226H; 3:189864329-189864329	prostate	adenoma	Substitution - Missense
c.648G>A; p.M216I; 3:189864300-189864300	skin	malignant_melanoma	Substitution - Missense
c.648G>A; p.M216I; 3:189864300-189864300	skin	malignant_melanoma	Substitution - Missense
c.677G>A; p.R226H; 3:189864329-189864329	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1161G>A; p.M387I; 3:189869355-189869355	skin; arm	malignant_melanoma	Substitution - Missense
c.397C>T; p.P133S; 3:189808344-189808344	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1227G>A; p.E409E; 3:189872873-189872873	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.321G>A; p.M107I; 3:189738771-189738771	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1889C>T; p.S630F; 3:189894348-189894348	skin	malignant_melanoma	Substitution - Missense
c.1872T>C; p.S624S; 3:189894331-189894331	skin	malignant_melanoma	Substitution - coding silent
c.60G>A; p.Q20Q; 3:189631575-189631575	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.694delA; p.A234fs*8; 3:189864346-189864346	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1361A>G; p.Q454R; 3:189886405-189886405	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1581C>G; p.P527P; 3:189889413-189889413	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1969G>A; p.E657K; 3:189894428-189894428	skin	malignant_melanoma	Substitution - Missense
c.14C>T; p.T5I; 3:189631529-189631529	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.447C>T; p.Y149Y; 3:189808394-189808394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1010G>A; p.R337Q; 3:189868597-189868597	urinary_tract; bladder	carcinoma	Substitution - Missense
c.508G>A; p.D170N; 3:189808455-189808455	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1317A>G; p.Q439Q; 3:189872963-189872963	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.508G>A; p.D170N; 3:189808455-189808455	skin	malignant_melanoma	Substitution - Missense
c.1656C>A; p.F552L; 3:189890792-189890792	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.469G>A; p.D157N; 3:189808416-189808416	pancreas	carcinoma	Substitution - Missense
c.1550A>G; p.N517S; 3:189889382-189889382	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1255G>T; p.E419*; 3:189872901-189872901	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1211C>A; p.P404Q; 3:189869405-189869405	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - Missense
c.173T>C; p.I58T; 3:189737850-189737850	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1625C>T; p.P542L; 3:189889457-189889457	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.488C>T; p.P163L; 3:189808435-189808435	skin	malignant_melanoma	Substitution - Missense
c.488C>T; p.P163L; 3:189808435-189808435	skin	malignant_melanoma	Substitution - Missense
c.1131G>A; p.P377P; 3:189869325-189869325	liver	carcinoma	Substitution - coding silent
c.510C>A; p.D170E; 3:189808457-189808457	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.242C>G; p.S81*; 3:189738692-189738692	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1825G>A; p.E609K; 3:189894284-189894284	skin	malignant_melanoma	Substitution - Missense
c.1825G>A; p.E609K; 3:189894284-189894284	skin	malignant_melanoma	Substitution - Missense
c.1825G>A; p.E609K; 3:189894284-189894284	skin	malignant_melanoma	Substitution - Missense
c.859C>T; p.L287L; 3:189866774-189866774	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1825G>A; p.E609K; 3:189894284-189894284	skin	malignant_melanoma	Substitution - Missense
c.665G>A; p.G222E; 3:189864317-189864317	skin	malignant_melanoma	Substitution - Missense
c.1825G>A; p.E609K; 3:189894284-189894284	skin; arm	malignant_melanoma	Substitution - Missense
c.1049G>A; p.R350K; 3:189868636-189868636	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.945G>A; p.G315G; 3:189867895-189867895	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1713C>A; p.T571T; 3:189890849-189890849	skin	malignant_melanoma	Substitution - coding silent
c.1615delC; p.P540fs*14; 3:189889447-189889447	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1615delC; p.P540fs*14; 3:189889447-189889447	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1465G>A; p.A489T; 3:189886509-189886509	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1657T>C; p.L553L; 3:189890793-189890793	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.551C>T; p.S184L; 3:189808498-189808498	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1028G>A; p.R343Q; 3:189868615-189868615	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1398G>A; p.L466L; 3:189886442-189886442	breast	carcinoma	Substitution - coding silent
c.461C>T; p.S154F; 3:189808408-189808408	urinary_tract; bladder	carcinoma	Substitution - Missense
c.319A>T; p.M107L; 3:189738769-189738769	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.461C>T; p.S154F; 3:189808408-189808408	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1575C>T; p.L525L; 3:189889407-189889407	skin	malignant_melanoma	Substitution - coding silent
c.453G>A; p.Q151Q; 3:189808400-189808400	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.453G>A; p.Q151Q; 3:189808400-189808400	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1003C>T; p.L335L; 3:189868590-189868590	skin	malignant_melanoma	Substitution - coding silent
c.1664G>A; p.R555K; 3:189890800-189890800	skin	malignant_melanoma	Substitution - Missense
c.836C>A; p.P279H; 3:189866751-189866751	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.836C>A; p.P279H; 3:189866751-189866751	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.836C>A; p.P279H; 3:189866751-189866751	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1485T>G; p.I495M; 3:189886529-189886529	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.566C>T; p.S189L; 3:189808513-189808513	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.566C>T; p.S189L; 3:189808513-189808513	breast	carcinoma	Substitution - Missense
c.386C>T; p.S129L; 3:189808333-189808333	skin	malignant_melanoma	Substitution - Missense
c.1747G>A; p.D583N; 3:189894206-189894206	skin	malignant_melanoma	Substitution - Missense
c.448G>A; p.A150T; 3:189808395-189808395	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1747G>A; p.D583N; 3:189894206-189894206	skin	malignant_melanoma	Substitution - Missense
c.142G>T; p.E48*; 3:189737819-189737819	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.861G>A; p.L287L; 3:189866776-189866776	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.731G>T; p.C244F; 3:189864383-189864383	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.390C>T; p.S130S; 3:189808337-189808337	skin	malignant_melanoma	Substitution - coding silent
c.948G>A; p.M316I; 3:189867898-189867898	skin	malignant_melanoma	Substitution - Missense
c.1635A>G; p.T545T; 3:189889467-189889467	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1458G>A; p.Q486Q; 3:189886502-189886502	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1227G>C; p.E409D; 3:189872873-189872873	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.319A>G; p.M107V; 3:189738769-189738769	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.274A>C; p.S92R; 3:189738724-189738724	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1110C>T; p.N370N; 3:189868697-189868697	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1218G>A; p.R406R; 3:189872864-189872864	skin	malignant_melanoma	Substitution - coding silent
c.1555C>T; p.L519F; 3:189889387-189889387	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.540C>T; p.S180S; 3:189808487-189808487	skin	malignant_melanoma	Substitution - coding silent
c.581A>C; p.Y194S; 3:189864233-189864233	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1973G>A; p.W658*; 3:189894432-189894432	skin	malignant_melanoma	Substitution - Nonsense
c.1009C>T; p.R337*; 3:189868596-189868596	skin	malignant_melanoma	Substitution - Nonsense
c.147C>T; p.F49F; 3:189737824-189737824	skin	malignant_melanoma	Substitution - coding silent
c.1107G>C; p.K369N; 3:189868694-189868694	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1107G>C; p.K369N; 3:189868694-189868694	liver	carcinoma	Substitution - Missense
c.1107G>C; p.K369N; 3:189868694-189868694	liver	carcinoma	Substitution - Missense
c.1748A>T; p.D583V; 3:189894207-189894207	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.829G>T; p.E277*; 3:189866744-189866744	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1329C>G; p.H443Q; 3:189872975-189872975	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1448A>G; p.N483S; 3:189886492-189886492	skin	malignant_melanoma	Substitution - Missense
c.431C>T; p.T144M; 3:189808378-189808378	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.509A>T; p.D170V; 3:189808456-189808456	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.409G>A; p.D137N; 3:189808356-189808356	skin	malignant_melanoma	Substitution - Missense
c.509A>T; p.D170V; 3:189808456-189808456	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1349+3G>A; p.?; 3:189872998-189872998	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.298G>A; p.D100N; 3:189738748-189738748	skin	malignant_melanoma	Substitution - Missense
c.1178G>A; p.R393Q; 3:189869372-189869372	skin	malignant_melanoma	Substitution - Missense
c.1136G>A; p.R379H; 3:189869330-189869330	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.376A>C; p.N126H; 3:189808323-189808323	pancreas	carcinoma	Substitution - Missense
c.690C>T; p.V230V; 3:189864342-189864342	thyroid	other; neoplasm	Substitution - coding silent
c.434C>T; p.A145V; 3:189808381-189808381	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1576C>T; p.P526S; 3:189889408-189889408	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1576C>T; p.P526S; 3:189889408-189889408	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1576C>T; p.P526S; 3:189889408-189889408	skin	malignant_melanoma	Substitution - Missense
c.532G>A; p.D178N; 3:189808479-189808479	skin	malignant_melanoma	Substitution - Missense
c.1657T>A; p.L553I; 3:189890793-189890793	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.217G>A; p.D73N; 3:189738667-189738667	skin	malignant_melanoma	Substitution - Missense
c.982G>A; p.E328K; 3:189867932-189867932	skin	malignant_melanoma	Substitution - Missense
c.97G>A; p.E33K; 3:189737774-189737774	skin	malignant_melanoma	Substitution - Missense
c.1122G>A; p.T374T; 3:189868709-189868709	skin	malignant_melanoma	Substitution - coding silent
c.275G>T; p.S92I; 3:189738725-189738725	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1616C>T; p.P539L; 3:189889448-189889448	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.679G>A; p.A227T; 3:189864331-189864331	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.522G>T; p.P174P; 3:189808469-189808469	liver	carcinoma	Substitution - coding silent
c.2021G>A; p.R674H; 3:189894480-189894480	skin	malignant_melanoma	Substitution - Missense
c.1788G>C; p.A596A; 3:189894247-189894247	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1002C>T; p.V334V; 3:189868589-189868589	skin	malignant_melanoma	Substitution - coding silent
c.115A>G; p.T39A; 3:189737792-189737792	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1046G>A; p.G349E; 3:189868633-189868633	skin	malignant_melanoma	Substitution - Missense
c.1121C>T; p.T374M; 3:189868708-189868708	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.50C>T; p.P17L; 3:189631565-189631565	skin	malignant_melanoma	Substitution - Missense
c.1883T>A; p.V628E; 3:189894342-189894342	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.707A>G; p.H236R; 3:189864359-189864359	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1213-1G>T; p.?; 3:189872858-189872858	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.621G>A; p.K207K; 3:189864273-189864273	skin	malignant_melanoma	Substitution - coding silent
c.531C>T; p.F177F; 3:189808478-189808478	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.531C>T; p.F177F; 3:189808478-189808478	skin	malignant_melanoma	Substitution - coding silent
c.531C>T; p.F177F; 3:189808478-189808478	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1780C>T; p.R594*; 3:189894239-189894239	skin	malignant_melanoma	Substitution - Nonsense
c.1780C>T; p.R594*; 3:189894239-189894239	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1013G>A; p.R338H; 3:189868600-189868600	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1780C>T; p.R594*; 3:189894239-189894239	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1780C>T; p.R594*; 3:189894239-189894239	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1780C>T; p.R594*; 3:189894239-189894239	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1780C>T; p.R594*; 3:189894239-189894239	skin	malignant_melanoma	Substitution - Nonsense
c.1651A>G; p.S551G; 3:189889483-189889483	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.796C>T; p.R266*; 3:189866711-189866711	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1598C>T; p.S533F; 3:189889430-189889430	skin	malignant_melanoma	Substitution - Missense
c.796C>T; p.R266*; 3:189866711-189866711	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.796C>T; p.R266*; 3:189866711-189866711	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1959A>C; p.P653P; 3:189894418-189894418	breast	carcinoma	Substitution - coding silent
c.507C>T; p.T169T; 3:189808454-189808454	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.507C>T; p.T169T; 3:189808454-189808454	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1083G>A; p.K361K; 3:189868670-189868670	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.507C>T; p.T169T; 3:189808454-189808454	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1788G>A; p.A596A; 3:189894247-189894247	skin	malignant_melanoma	Substitution - coding silent
c.1028G>T; p.R343L; 3:189868615-189868615	central_nervous_system; brain	glioma	Substitution - Missense
c.1848C>T; p.L616L; 3:189894307-189894307	skin	malignant_melanoma	Substitution - coding silent
c.1848C>T; p.L616L; 3:189894307-189894307	skin	malignant_melanoma	Substitution - coding silent
c.392C>G; p.T131S; 3:189808339-189808339	ovary	other; neoplasm	Substitution - Missense
c.1788G>A; p.A596A; 3:189894247-189894247	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1580C>T; p.P527L; 3:189889412-189889412	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3G>A; p.M1I; 3:189631518-189631518	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3G>A; p.M1I; 3:189631518-189631518	skin	malignant_melanoma	Substitution - Missense
c.521C>T; p.P174L; 3:189808468-189808468	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1015T>C; p.C339R; 3:189868602-189868602	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.302C>T; p.S101L; 3:189738752-189738752	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1129+8G>C; p.?; 3:189868724-189868724	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1129+1G>A; p.?; 3:189868717-189868717	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1094C>T; p.S365L; 3:189868681-189868681	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1094C>T; p.S365L; 3:189868681-189868681	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1094C>T; p.S365L; 3:189868681-189868681	skin	malignant_melanoma	Substitution - Missense
c.1094C>T; p.S365L; 3:189868681-189868681	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.1094C>T; p.S365L; 3:189868681-189868681	skin	malignant_melanoma	Substitution - Missense
c.1740C>T; p.S580S; 3:189890876-189890876	skin	malignant_melanoma	Substitution - coding silent
c.1094C>T; p.S365L; 3:189868681-189868681	skin; arm	malignant_melanoma	Substitution - Missense
c.1094C>T; p.S365L; 3:189868681-189868681	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1697C>T; p.T566M; 3:189890833-189890833	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.569C>T; p.A190V; 3:189808516-189808516	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1934_1935CC>TT; p.T645I; 3:189894393-189894394	skin	malignant_melanoma	Substitution - Missense
c.675C>T; p.I225I; 3:189864327-189864327	skin	malignant_melanoma	Substitution - coding silent
c.1497G>T; p.M499I; 3:189886541-189886541	skin	malignant_melanoma	Substitution - Missense
c.1497G>T; p.M499I; 3:189886541-189886541	skin	malignant_melanoma	Substitution - Missense
c.1130-1G>C; p.?; 3:189869323-189869323	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.983A>G; p.E328G; 3:189867933-189867933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1065T>C; p.D355D; 3:189868652-189868652	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1090G>A; p.V364I; 3:189868677-189868677	lung	carcinoma; adenocarcinoma	Substitution - Missense

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]