Entrez Gene

Basic Information
Gene ID	220001
Name	VWCE

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.712C>T; p.H238Y; 11:61281861-61281861	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.127delC; p.H43fs*89; 11:61291560-61291560	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1990G>A; p.V664M; 11:61265188-61265188	liver	carcinoma	Substitution - Missense
c.2666C>A; p.P889H; 11:61258877-61258877	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.127delC; p.H43fs*89; 11:61291560-61291560	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1990G>A; p.V664M; 11:61265188-61265188	liver	carcinoma	Substitution - Missense
c.355C>G; p.Q119E; 11:61290868-61290868	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1393G>T; p.V465F; 11:61278408-61278408	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.2186C>T; p.A729V; 11:61264531-61264531	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1227C>T; p.C409C; 11:61280796-61280796	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2415G>A; p.T805T; 11:61259128-61259128	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1627T>C; p.C543R; 11:61273271-61273271	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1524C>T; p.Y508Y; 11:61274556-61274556	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1531G>T; p.G511W; 11:61274549-61274549	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2511G>T; p.E837D; 11:61259032-61259032	bone	osteosarcoma	Substitution - Missense
c.2560G>A; p.A854T; 11:61258983-61258983	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2740A>T; p.T914S; 11:61258803-61258803	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1517G>C; p.R506P; 11:61274563-61274563	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.988C>T; p.P330S; 11:61281035-61281035	skin	malignant_melanoma	Substitution - Missense
c.878G>T; p.R293L; 11:61281145-61281145	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.550G>A; p.E184K; 11:61282897-61282897	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.550G>A; p.E184K; 11:61282897-61282897	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.185G>A; p.G62D; 11:61291502-61291502	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.399G>C; p.E133D; 11:61290824-61290824	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1116G>A; p.R372R; 11:61280907-61280907	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1116G>A; p.R372R; 11:61280907-61280907	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2128T>C; p.C710R; 11:61264967-61264967	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2583C>T; p.S861S; 11:61258960-61258960	skin	malignant_melanoma	Substitution - coding silent
c.1379A>G; p.N460S; 11:61278422-61278422	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1560G>A; p.E520E; 11:61274520-61274520	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2345C>G; p.S782C; 11:61259198-61259198	breast	carcinoma	Substitution - Missense
c.2743C>A; p.L915I; 11:61258800-61258800	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2403C>T; p.L801L; 11:61259140-61259140	skin	malignant_melanoma	Substitution - coding silent
c.1188G>A; p.R396R; 11:61280835-61280835	liver	carcinoma	Substitution - coding silent
c.2433G>T; p.Q811H; 11:61259110-61259110	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1188G>A; p.R396R; 11:61280835-61280835	liver	carcinoma	Substitution - coding silent
c.1109C>T; p.S370L; 11:61280914-61280914	skin	malignant_melanoma	Substitution - Missense
c.651C>T; p.S217S; 11:61282796-61282796	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1550G>A; p.G517D; 11:61274530-61274530	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1616C>T; p.P539L; 11:61273282-61273282	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2755C>T; p.R919C; 11:61258788-61258788	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.764G>T; p.R255L; 11:61281809-61281809	liver	carcinoma	Substitution - Missense
c.2851G>A; p.E951K; 11:61258692-61258692	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2755C>T; p.R919C; 11:61258788-61258788	breast	carcinoma	Substitution - Missense
c.2755C>T; p.R919C; 11:61258788-61258788	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.159C>G; p.C53W; 11:61291528-61291528	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.2541G>A; p.G847G; 11:61259002-61259002	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2851_2852insG; p.E951fs*>6; 11:61258691-61258692	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1391delC; p.V465fs*35; 11:61278410-61278410	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.2721C>G; p.S907R; 11:61258822-61258822	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.299C>T; p.T100I; 11:61290924-61290924	skin	malignant_melanoma	Substitution - Missense
c.523G>A; p.D175N; 11:61286332-61286332	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2452G>A; p.A818T; 11:61259091-61259091	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2146G>T; p.E716*; 11:61264571-61264571	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2688G>A; p.T896T; 11:61258855-61258855	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.874G>A; p.G292S; 11:61281149-61281149	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1647_1648insG; p.L550fs*22; 11:61273250-61273251	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.502C>T; p.P168S; 11:61286353-61286353	skin	malignant_melanoma	Substitution - Missense
c.917C>A; p.A306D; 11:61281106-61281106	pleura	pulmonary_blastoma	Substitution - Missense
c.1647_1648insG; p.L550fs*22; 11:61273250-61273251	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1317G>A; p.S439S; 11:61280631-61280631	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2380C>T; p.P794S; 11:61259163-61259163	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2076G>A; p.R692R; 11:61265019-61265019	skin	malignant_melanoma	Substitution - coding silent
c.1120C>T; p.P374S; 11:61280903-61280903	skin	malignant_melanoma	Substitution - Missense
c.1478G>A; p.C493Y; 11:61276610-61276610	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1339_1340GG>TA; p.G447Y; 11:61278461-61278462	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1183T>G; p.S395A; 11:61280840-61280840	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2117C>T; p.P706L; 11:61264978-61264978	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.709_710insC; p.C237fs*21; 11:61281863-61281864	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Insertion - Frameshift
c.1451C>G; p.P484R; 11:61276637-61276637	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1615C>G; p.P539A; 11:61273283-61273283	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2784C>G; p.L928L; 11:61258759-61258759	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2017C>A; p.P673T; 11:61265161-61265161	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1752G>A; p.S584S; 11:61271708-61271708	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.475G>C; p.E159Q; 11:61286380-61286380	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1466_1467insC; p.Q490fs*30; 11:61276621-61276622	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2654C>T; p.S885F; 11:61258889-61258889	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2547G>A; p.S849S; 11:61258996-61258996	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1789G>C; p.D597H; 11:61269015-61269015	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1929G>A; p.P643P; 11:61267498-61267498	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1133G>T; p.R378L; 11:61280890-61280890	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2172C>T; p.C724C; 11:61264545-61264545	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.19C>A; p.L7I; 11:61295019-61295019	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2775C>T; p.T925T; 11:61258768-61258768	skin	malignant_melanoma	Substitution - coding silent
c.1758T>C; p.G586G; 11:61271702-61271702	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2230G>C; p.D744H; 11:61264487-61264487	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1463C>T; p.P488L; 11:61276625-61276625	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.366_367CC>AT; p.R123*; 11:61290856-61290857	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1393G>A; p.V465I; 11:61278408-61278408	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1393G>A; p.V465I; 11:61278408-61278408	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.632T>C; p.L211P; 11:61282815-61282815	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1839C>T; p.H613H; 11:61268965-61268965	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1713C>T; p.D571D; 11:61271747-61271747	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.886C>A; p.L296M; 11:61281137-61281137	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1046C>T; p.S349F; 11:61280977-61280977	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.541+1G>A; p.?; 11:61286313-61286313	stomach	carcinoma; adenocarcinoma	Unknown
c.2758G>A; p.V920M; 11:61258785-61258785	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.556C>A; p.L186I; 11:61282891-61282891	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1654C>T; p.P552S; 11:61273244-61273244	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2035G>A; p.E679K; 11:61265143-61265143	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1840C>A; p.P614T; 11:61268964-61268964	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2569C>G; p.L857V; 11:61258974-61258974	breast	carcinoma	Substitution - Missense
c.2824C>T; p.Q942*; 11:61258719-61258719	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1255G>A; p.V419M; 11:61280693-61280693	skin	malignant_melanoma	Substitution - Missense
c.2284G>A; p.A762T; 11:61259259-61259259	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2575C>G; p.L859V; 11:61258968-61258968	breast	carcinoma	Substitution - Missense
c.2433G>A; p.Q811Q; 11:61259110-61259110	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2864T>C; p.M955T; 11:61258679-61258679	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2084C>T; p.A695V; 11:61265011-61265011	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2768C>T; p.P923L; 11:61258775-61258775	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2820C>G; p.P940P; 11:61258723-61258723	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2807C>A; p.T936N; 11:61258736-61258736	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.522C>A; p.A174A; 11:61286333-61286333	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1083G>C; p.Q361H; 11:61280940-61280940	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2593C>T; p.P865S; 11:61258950-61258950	skin	malignant_melanoma	Substitution - Missense
c.908C>T; p.P303L; 11:61281115-61281115	skin	malignant_melanoma	Substitution - Missense
c.1512C>T; p.H504H; 11:61274568-61274568	pancreas	carcinoma	Substitution - coding silent
c.2546delC; p.S849fs*1; 11:61258997-61258997	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.216C>T; p.S72S; 11:61291343-61291343	skin	malignant_melanoma	Substitution - coding silent
c.1559A>G; p.E520G; 11:61274521-61274521	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1011G>A; p.L337L; 11:61281012-61281012	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1203G>C; p.E401D; 11:61280820-61280820	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.732C>G; p.F244L; 11:61281841-61281841	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1517G>A; p.R506Q; 11:61274563-61274563	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2466T>C; p.G822G; 11:61259077-61259077	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1950G>A; p.L650L; 11:61267477-61267477	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2234C>T; p.S745F; 11:61259309-61259309	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.453C>A; p.C151*; 11:61286402-61286402	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2268C>T; p.S756S; 11:61259275-61259275	skin	malignant_melanoma	Substitution - coding silent
c.1531G>A; p.G511R; 11:61274549-61274549	skin	malignant_melanoma	Substitution - Missense
c.1516C>T; p.R506W; 11:61274564-61274564	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.367C>T; p.R123*; 11:61290856-61290856	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1492C>T; p.P498S; 11:61276596-61276596	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2845_2846CG>TC; p.R949S; 11:61258697-61258698	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1805G>A; p.C602Y; 11:61268999-61268999	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1646G>T; p.R549L; 11:61273252-61273252	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1293delC; p.R432fs*68; 11:61280655-61280655	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.866C>A; p.P289H; 11:61281157-61281157	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1407+2T>A; p.?; 11:61278392-61278392	lung	carcinoma; adenocarcinoma	Unknown
c.1786-4C>G; p.?; 11:61269022-61269022	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.2236C>T; p.L746L; 11:61259307-61259307	skin	malignant_melanoma	Substitution - coding silent
c.2727G>A; p.S909S; 11:61258816-61258816	prostate	carcinoma	Substitution - coding silent
c.2099T>A; p.F700Y; 11:61264996-61264996	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.453C>T; p.C151C; 11:61286402-61286402	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1305G>A; p.G435G; 11:61280643-61280643	skin	malignant_melanoma	Substitution - coding silent
c.127C>T; p.H43Y; 11:61291560-61291560	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1918G>A; p.E640K; 11:61267509-61267509	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2693C>T; p.A898V; 11:61258850-61258850	breast	carcinoma	Substitution - Missense
c.492C>T; p.C164C; 11:61286363-61286363	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2167C>T; p.P723S; 11:61264550-61264550	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1297G>T; p.D433Y; 11:61280651-61280651	pancreas	carcinoma	Substitution - Missense
c.1652_1653insG; p.G553fs*19; 11:61273245-61273246	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.725G>A; p.G242D; 11:61281848-61281848	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.927C>T; p.P309P; 11:61281096-61281096	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1089G>T; p.E363D; 11:61280934-61280934	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1344C>T; p.V448V; 11:61278457-61278457	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1850T>A; p.I617N; 11:61268954-61268954	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1479C>A; p.C493*; 11:61276609-61276609	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.571C>T; p.Q191*; 11:61282876-61282876	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2093A>G; p.Q698R; 11:61265002-61265002	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.219C>T; p.F73F; 11:61291340-61291340	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.219C>T; p.F73F; 11:61291340-61291340	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.219C>T; p.F73F; 11:61291340-61291340	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2722_2723CC>TT; p.P908F; 11:61258820-61258821	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1908C>G; p.F636L; 11:61267519-61267519	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2276G>A; p.G759E; 11:61259267-61259267	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2689G>A; p.E897K; 11:61258854-61258854	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2534C>T; p.S845L; 11:61259009-61259009	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2276G>A; p.G759E; 11:61259267-61259267	skin	malignant_melanoma	Substitution - Missense
c.950G>A; p.R317H; 11:61281073-61281073	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1324+1G>A; p.?; 11:61280623-61280623	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.2040C>T; p.C680C; 11:61265138-61265138	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2274C>T; p.H758H; 11:61259269-61259269	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1926C>T; p.F642F; 11:61267501-61267501	skin	malignant_melanoma	Substitution - coding silent

The somatic mutations from COSMIC database