Entrez Gene

Basic Information
Gene ID	5629
Name	PROX1
Synonymous	prospero homeobox 1;PROX1;prospero homeobox 1
Definition	homeobox prospero-like protein PROX1\|prospero homeobox protein 1\|prospero-related homeobox 1
Position	1q41
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 0.08.

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.1792C>T; p.P598S; 1:214005231-214005231	skin; extremity	malignant_melanoma	Substitution - Missense
c.1792C>T; p.P598S; 1:214005231-214005231	skin	malignant_melanoma	Substitution - Missense
c.939C>A; p.A313A; 1:213997474-213997474	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.408delC; p.P138fs*12; 1:213996943-213996943	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1932C>T; p.N644N; 1:214011619-214011619	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.846G>T; p.E282D; 1:213997381-213997381	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1029G>A; p.P343P; 1:213997564-213997564	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1620A>T; p.P540P; 1:213998155-213998155	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.939C>T; p.A313A; 1:213997474-213997474	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1839C>A; p.N613K; 1:214011526-214011526	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.811G>T; p.D271Y; 1:213997346-213997346	breast	carcinoma	Substitution - Missense
c.574G>A; p.E192K; 1:213997109-213997109	skin	malignant_melanoma	Substitution - Missense
c.752G>T; p.R251L; 1:213997287-213997287	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1289C>T; p.A430V; 1:213997824-213997824	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1558G>A; p.D520N; 1:213998093-213998093	skin	malignant_melanoma	Substitution - Missense
c.929G>A; p.R310Q; 1:213997464-213997464	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1325T>G; p.V442G; 1:213997860-213997860	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.929G>A; p.R310Q; 1:213997464-213997464	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1115C>T; p.S372L; 1:213997650-213997650	pancreas	carcinoma	Substitution - Missense
c.1212C>T; p.T404T; 1:213997747-213997747	oesophagus	carcinoma	Substitution - coding silent
c.25C>A; p.L9I; 1:213996560-213996560	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.17G>A; p.S6N; 1:213996552-213996552	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.520C>T; p.R174W; 1:213997055-213997055	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.520C>T; p.R174W; 1:213997055-213997055	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.520C>T; p.R174W; 1:213997055-213997055	skin	malignant_melanoma	Substitution - Missense
c.520C>T; p.R174W; 1:213997055-213997055	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1431G>A; p.T477T; 1:213997966-213997966	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.520C>T; p.R174W; 1:213997055-213997055	skin	malignant_melanoma	Substitution - Missense
c.824C>A; p.S275Y; 1:213997359-213997359	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1167C>T; p.P389P; 1:213997702-213997702	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.824C>A; p.S275Y; 1:213997359-213997359	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.824C>A; p.S275Y; 1:213997359-213997359	large_intestine; colon	carcinoma	Substitution - Missense
c.520C>T; p.R174W; 1:213997055-213997055	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.824C>A; p.S275Y; 1:213997359-213997359	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.520C>T; p.R174W; 1:213997055-213997055	skin	malignant_melanoma	Substitution - Missense
c.121delT; p.F42fs*4; 1:213996656-213996656	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.466C>T; p.R156C; 1:213997001-213997001	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.379G>A; p.D127N; 1:213996914-213996914	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1158C>G; p.L386L; 1:213997693-213997693	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1638C>A; p.T546T; 1:213998173-213998173	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1158C>G; p.L386L; 1:213997693-213997693	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1868G>T; p.W623L; 1:214011555-214011555	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.703G>T; p.E235*; 1:213997238-213997238	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.764A>G; p.E255G; 1:213997299-213997299	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.504G>C; p.R168R; 1:213997039-213997039	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.301A>G; p.M101V; 1:213996836-213996836	liver	carcinoma	Substitution - Missense
c.301A>G; p.M101V; 1:213996836-213996836	liver	carcinoma	Substitution - Missense
c.860G>C; p.R287T; 1:213997395-213997395	breast	carcinoma	Substitution - Missense
c.2018A>C; p.N673T; 1:214011705-214011705	liver	carcinoma	Substitution - Missense
c.2018A>C; p.N673T; 1:214011705-214011705	liver	carcinoma	Substitution - Missense
c.855T>A; p.D285E; 1:213997390-213997390	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.590C>T; p.S197F; 1:213997125-213997125	skin; mucosal	malignant_melanoma	Substitution - Missense
c.994_997delAAAG; p.R334fs*18; 1:213997529-213997532	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.236C>T; p.S79L; 1:213996771-213996771	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.325C>G; p.P109A; 1:213996860-213996860	skin	malignant_melanoma	Substitution - Missense
c.1824C>T; p.S608S; 1:214005263-214005263	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1824C>T; p.S608S; 1:214005263-214005263	prostate	carcinoma	Substitution - coding silent
c.1666A>C; p.K556Q; 1:213998201-213998201	breast	carcinoma	Substitution - Missense
c.664C>T; p.Q222*; 1:213997199-213997199	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1223G>A; p.R408H; 1:213997758-213997758	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.602G>A; p.R201Q; 1:213997137-213997137	breast	carcinoma	Substitution - Missense
c.581C>T; p.A194V; 1:213997116-213997116	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2149C>T; p.L717L; 1:214035769-214035769	skin	malignant_melanoma	Substitution - coding silent
c.975G>A; p.P325P; 1:213997510-213997510	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1031delA; p.G345fs*8; 1:213997566-213997566	liver	carcinoma	Deletion - Frameshift
c.554G>A; p.R185K; 1:213997089-213997089	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1166C>T; p.P389L; 1:213997701-213997701	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1240G>T; p.D414Y; 1:213997775-213997775	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.542G>T; p.S181I; 1:213997077-213997077	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1750C>A; p.H584N; 1:214005189-214005189	skin	malignant_melanoma	Substitution - Missense
c.1190G>T; p.G397V; 1:213997725-213997725	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1190G>T; p.G397V; 1:213997725-213997725	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2132A>G; p.Y711C; 1:214035752-214035752	ovary	other; neoplasm	Substitution - Missense
c.1422C>A; p.G474G; 1:213997957-213997957	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1506C>T; p.G502G; 1:213998041-213998041	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.526A>G; p.M176V; 1:213997061-213997061	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.526A>G; p.M176V; 1:213997061-213997061	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1774delT; p.Y594fs*10; 1:214005213-214005213	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1774delT; p.Y594fs*10; 1:214005213-214005213	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1774delT; p.Y594fs*10; 1:214005213-214005213	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1565C>T; p.T522M; 1:213998100-213998100	breast	carcinoma	Substitution - Missense
c.1565C>T; p.T522M; 1:213998100-213998100	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1777T>G; p.F593V; 1:214005216-214005216	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1774delT; p.Y594fs*10; 1:214005213-214005213	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1828G>A; p.V610I; 1:214005267-214005267	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1149C>T; p.F383F; 1:213997684-213997684	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1575G>A; p.R525R; 1:213998110-213998110	skin	malignant_melanoma	Substitution - coding silent
c.1706C>T; p.S569L; 1:213998241-213998241	skin; shoulder	malignant_melanoma	Substitution - Missense
c.823T>A; p.S275T; 1:213997358-213997358	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1350G>T; p.Q450H; 1:213997885-213997885	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.25C>T; p.L9F; 1:213996560-213996560	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1225C>A; p.L409M; 1:213997760-213997760	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1755_1756insA; p.A588fs*38; 1:214005194-214005195	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.364G>T; p.E122*; 1:213996899-213996899	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1691A>T; p.D564V; 1:213998226-213998226	oesophagus	carcinoma	Substitution - Missense
c.1239C>T; p.G413G; 1:213997774-213997774	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.720A>T; p.K240N; 1:213997255-213997255	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1239C>T; p.G413G; 1:213997774-213997774	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1239C>T; p.G413G; 1:213997774-213997774	liver	carcinoma	Substitution - coding silent
c.2114C>T; p.S705F; 1:214035734-214035734	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1967C>T; p.T656I; 1:214011654-214011654	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1619C>T; p.P540L; 1:213998154-213998154	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1933G>A; p.D645N; 1:214011620-214011620	breast	carcinoma	Substitution - Missense
c.187G>C; p.D63H; 1:213996722-213996722	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1019C>A; p.S340Y; 1:213997554-213997554	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.1254G>A; p.P418P; 1:213997789-213997789	pancreas	carcinoma	Substitution - coding silent
c.144A>G; p.Q48Q; 1:213996679-213996679	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.317G>A; p.G106D; 1:213996852-213996852	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1243G>A; p.V415I; 1:213997778-213997778	breast	carcinoma	Substitution - Missense
c.149C>A; p.S50Y; 1:213996684-213996684	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.892G>C; p.E298Q; 1:213997427-213997427	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.48G>A; p.R16R; 1:213996583-213996583	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.752G>A; p.R251H; 1:213997287-213997287	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1886A>G; p.E629G; 1:214011573-214011573	liver	carcinoma	Substitution - Missense
c.1645G>T; p.G549W; 1:213998180-213998180	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1886A>G; p.E629G; 1:214011573-214011573	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.497G>A; p.R166H; 1:213997032-213997032	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1886A>G; p.E629G; 1:214011573-214011573	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1690G>T; p.D564Y; 1:213998225-213998225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1474C>T; p.P492S; 1:213998009-213998009	skin	malignant_melanoma	Substitution - Missense
c.475G>C; p.D159H; 1:213997010-213997010	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2180C>T; p.S727F; 1:214035800-214035800	skin	malignant_melanoma	Substitution - Missense
c.362C>T; p.S121F; 1:213996897-213996897	skin	malignant_melanoma	Substitution - Missense
c.467G>A; p.R156H; 1:213997002-213997002	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.467G>A; p.R156H; 1:213997002-213997002	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.467G>A; p.R156H; 1:213997002-213997002	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1296C>T; p.S432S; 1:213997831-213997831	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1677C>T; p.C559C; 1:213998212-213998212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.707G>T; p.R236L; 1:213997242-213997242	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1677C>T; p.C559C; 1:213998212-213998212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.707G>T; p.R236L; 1:213997242-213997242	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.307A>T; p.K103*; 1:213996842-213996842	skin	malignant_melanoma	Substitution - Nonsense
c.514A>T; p.I172L; 1:213997049-213997049	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2063C>G; p.T688R; 1:214035683-214035683	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1976G>T; p.C659F; 1:214011663-214011663	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.398C>T; p.S133L; 1:213996933-213996933	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1439T>C; p.F480S; 1:213997974-213997974	thyroid	other; neoplasm	Substitution - Missense
c.445A>G; p.M149V; 1:213996980-213996980	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2126delC; p.I710fs*>28; 1:214035746-214035746	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.477T>A; p.D159E; 1:213997012-213997012	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1638C>T; p.T546T; 1:213998173-213998173	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1116G>T; p.S372S; 1:213997651-213997651	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1123C>T; p.P375S; 1:213997658-213997658	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1116G>T; p.S372S; 1:213997651-213997651	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1874G>T; p.S625I; 1:214011561-214011561	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.486G>A; p.L162L; 1:213997021-213997021	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.255G>A; p.M85I; 1:213996790-213996790	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.730G>C; p.E244Q; 1:213997265-213997265	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1755G>A; p.L585L; 1:214005194-214005194	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1222C>T; p.R408C; 1:213997757-213997757	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1222C>T; p.R408C; 1:213997757-213997757	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.683G>A; p.R228Q; 1:213997218-213997218	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.683G>A; p.R228Q; 1:213997218-213997218	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.683G>A; p.R228Q; 1:213997218-213997218	skin	malignant_melanoma	Substitution - Missense
c.1260C>T; p.P420P; 1:213997795-213997795	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1260C>T; p.P420P; 1:213997795-213997795	skin	malignant_melanoma	Substitution - coding silent
c.122T>G; p.F41C; 1:213996657-213996657	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1189delG; p.E398fs*91; 1:213997724-213997724	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.350C>A; p.S117Y; 1:213996885-213996885	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1678G>A; p.G560S; 1:213998213-213998213	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1189delG; p.E398fs*91; 1:213997724-213997724	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1620A>G; p.P540P; 1:213998155-213998155	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1785C>T; p.T595T; 1:214005224-214005224	skin	malignant_melanoma	Substitution - coding silent
c.839G>A; p.R280H; 1:213997374-213997374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.221T>C; p.L74P; 1:213996756-213996756	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.221T>C; p.L74P; 1:213996756-213996756	stomach	adenocarcinoma	Substitution - Missense
c.1264G>A; p.D422N; 1:213997799-213997799	breast	carcinoma	Substitution - Missense
c.1725+5C>T; p.?; 1:213998265-213998265	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2092G>T; p.A698S; 1:214035712-214035712	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.538C>G; p.P180A; 1:213997073-213997073	liver	carcinoma	Substitution - Missense
c.105T>C; p.A35A; 1:213996640-213996640	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.538C>G; p.P180A; 1:213997073-213997073	liver	carcinoma	Substitution - Missense
c.269C>A; p.A90E; 1:213996804-213996804	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.861G>C; p.R287S; 1:213997396-213997396	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.113G>A; p.R38K; 1:213996648-213996648	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1300G>A; p.D434N; 1:213997835-213997835	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.928C>T; p.R310*; 1:213997463-213997463	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1809G>A; p.L603L; 1:214005248-214005248	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.609T>C; p.S203S; 1:213997144-213997144	skin	malignant_melanoma	Substitution - coding silent
c.1827C>T; p.D609D; 1:214005266-214005266	pancreas	carcinoma	Substitution - coding silent
c.1930A>C; p.N644H; 1:214011617-214011617	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1475C>T; p.P492L; 1:213998010-213998010	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1581G>A; p.K527K; 1:213998116-213998116	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1581G>A; p.K527K; 1:213998116-213998116	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2183C>T; p.P728L; 1:214035803-214035803	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2183C>T; p.P728L; 1:214035803-214035803	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1833G>T; p.K611N; 1:214005272-214005272	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1833G>T; p.K611N; 1:214005272-214005272	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.206T>A; p.V69E; 1:213996741-213996741	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.427C>T; p.P143S; 1:213996962-213996962	skin; leg	malignant_melanoma; nodular	Substitution - Missense
c.427C>T; p.P143S; 1:213996962-213996962	skin	malignant_melanoma	Substitution - Missense
c.1503C>T; p.S501S; 1:213998038-213998038	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.179A>T; p.Q60L; 1:213996714-213996714	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.561T>A; p.N187K; 1:213997096-213997096	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.805G>C; p.D269H; 1:213997340-213997340	breast	carcinoma	Substitution - Missense
c.482A>T; p.H161L; 1:213997017-213997017	oesophagus	carcinoma	Substitution - Missense
c.2181C>G; p.S727S; 1:214035801-214035801	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1240G>A; p.D414N; 1:213997775-213997775	skin	malignant_melanoma	Substitution - Missense
c.1330C>T; p.R444C; 1:213997865-213997865	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.674T>A; p.V225D; 1:213997209-213997209	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1715C>T; p.S572L; 1:213998250-213998250	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1715C>T; p.S572L; 1:213998250-213998250	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.674T>A; p.V225D; 1:213997209-213997209	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1111T>G; p.F371V; 1:213997646-213997646	skin	malignant_melanoma	Substitution - Missense
c.2020G>A; p.D674N; 1:214011707-214011707	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2085C>T; p.A695A; 1:214035705-214035705	skin	malignant_melanoma	Substitution - coding silent
c.1359C>T; p.S453S; 1:213997894-213997894	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.921T>A; p.F307L; 1:213997456-213997456	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.387C>T; p.C129C; 1:213996922-213996922	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1026A>C; p.Q342H; 1:213997561-213997561	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; NK-T_cell_lymphoma	Substitution - Missense
c.697C>T; p.R233*; 1:213997232-213997232	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1428C>T; p.T476T; 1:213997963-213997963	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1110C>A; p.V370V; 1:213997645-213997645	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1786C>T; p.R596C; 1:214005225-214005225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1786C>T; p.R596C; 1:214005225-214005225	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.860G>T; p.R287M; 1:213997395-213997395	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.47G>A; p.R16K; 1:213996582-213996582	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.688G>A; p.E230K; 1:213997223-213997223	skin	malignant_melanoma	Substitution - Missense
c.2091C>T; p.I697I; 1:214035711-214035711	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1442G>A; p.R481H; 1:213997977-213997977	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.405C>A; p.D135E; 1:213996940-213996940	stomach	adenocarcinoma	Substitution - Missense
c.2126C>T; p.A709V; 1:214035746-214035746	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1565C>G; p.T522R; 1:213998100-213998100	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2028+5G>A; p.?; 1:214011720-214011720	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1642G>A; p.E548K; 1:213998177-213998177	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1469C>T; p.A490V; 1:213998004-213998004	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1639G>A; p.A547T; 1:213998174-213998174	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1742C>T; p.S581L; 1:214005181-214005181	skin	malignant_melanoma	Substitution - Missense
c.498C>T; p.R166R; 1:213997033-213997033	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.1028C>T; p.P343L; 1:213997563-213997563	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.681C>T; p.A227A; 1:213997216-213997216	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.709C>T; p.R237*; 1:213997244-213997244	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1030G>C; p.E344Q; 1:213997565-213997565	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1471T>C; p.Y491H; 1:213998006-213998006	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.797C>T; p.S266L; 1:213997332-213997332	skin	malignant_melanoma	Substitution - Missense
c.2175C>T; p.F725F; 1:214035795-214035795	skin	malignant_melanoma	Substitution - coding silent

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]