lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	55503
Symbol	TRPV6
Synonymous	ABP/ZF\|CAT1\|CATL\|ECAC2\|HSA277909\|LP6728\|ZFAB
Full name	transient receptor potential cation channel, subfamily V, member 6
Gene description	Alu-binding protein with zinc finger domain\|calcium transport protein 1\|calcium transporter-like protein\|epithelial apical membrane calcium transporter/channel CaT1\|epithelial calcium channel 2\|transient receptor potential cation channel subfamily V membe
Cytoband	7q34
Gene type	protein-coding
Synonymous	MIM:606680; HGNC:HGNC:14006; Ensembl:ENSG00000165125; HPRD:05982; Vega:OTTHUMG00000157158

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1857C>T; p.C619C; 7:142872410-142872410	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.609C>T; p.L203L; 7:142876561-142876561	skin	malignant_melanoma	Substitution - coding silent
c.2066C>A; p.S689Y; 7:142871819-142871819	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1857C>T; p.C619C; 7:142872410-142872410	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2066C>A; p.S689Y; 7:142871819-142871819	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1857C>T; p.C619C; 7:142872410-142872410	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1984G>T; p.D662Y; 7:142871901-142871901	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.697G>T; p.D233Y; 7:142876473-142876473	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1456A>G; p.I486V; 7:142874139-142874139	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1130A>G; p.Y377C; 7:142875157-142875157	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.470G>A; p.C157Y; 7:142877159-142877159	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.831C>G; p.L277L; 7:142875836-142875836	breast	carcinoma	Substitution - coding silent
c.751G>C; p.G251R; 7:142876419-142876419	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.484T>C; p.F162L; 7:142877145-142877145	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1603G>A; p.E535K; 7:142873633-142873633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1858G>A; p.G620R; 7:142872409-142872409	skin	malignant_melanoma	Substitution - Missense
c.1603G>A; p.E535K; 7:142873633-142873633	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1374C>T; p.L458L; 7:142874569-142874569	skin	malignant_melanoma	Substitution - coding silent
c.1374C>T; p.L458L; 7:142874569-142874569	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1603G>A; p.E535K; 7:142873633-142873633	skin	malignant_melanoma	Substitution - Missense
c.234G>A; p.M78I; 7:142877766-142877766	liver	carcinoma	Substitution - Missense
c.2002G>A; p.E668K; 7:142871883-142871883	urinary_tract; bladder	carcinoma	Substitution - Missense
c.234G>A; p.M78I; 7:142877766-142877766	liver	carcinoma	Substitution - Missense
c.1664A>G; p.Y555C; 7:142873572-142873572	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1457T>C; p.I486T; 7:142874138-142874138	central_nervous_system; brain	glioma	Substitution - Missense
c.461G>A; p.R154H; 7:142877168-142877168	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1639T>C; p.Y547H; 7:142873597-142873597	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.874C>T; p.L292L; 7:142875793-142875793	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.783G>A; p.Q261Q; 7:142875884-142875884	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.546C>T; p.L182L; 7:142876779-142876779	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2068C>T; p.R690C; 7:142871817-142871817	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1696G>A; p.A566T; 7:142873540-142873540	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.914G>A; p.R305H; 7:142875676-142875676	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1023C>T; p.I341I; 7:142875567-142875567	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4G>T; p.G2C; 7:142885513-142885513	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.925G>A; p.D309N; 7:142875665-142875665	skin	malignant_melanoma	Substitution - Missense
c.2174T>A; p.I725N; 7:142871711-142871711	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.914G>A; p.R305H; 7:142875676-142875676	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.238G>A; p.E80K; 7:142877762-142877762	skin	malignant_melanoma	Substitution - Missense
c.859G>T; p.G287W; 7:142875808-142875808	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1260C>T; p.I420I; 7:142874930-142874930	skin	malignant_melanoma	Substitution - coding silent
c.1083C>A; p.S361R; 7:142875507-142875507	prostate	carcinoma	Substitution - Missense
c.476T>A; p.L159H; 7:142877153-142877153	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.446G>T; p.G149V; 7:142877183-142877183	skin	malignant_melanoma	Substitution - Missense
c.446G>T; p.G149V; 7:142877183-142877183	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1260C>T; p.I420I; 7:142874930-142874930	skin	malignant_melanoma	Substitution - coding silent
c.707C>T; p.P236L; 7:142876463-142876463	skin	malignant_melanoma	Substitution - Missense
c.1920C>T; p.N640N; 7:142871965-142871965	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1890C>T; p.F630F; 7:142872377-142872377	skin; leg	malignant_melanoma	Substitution - coding silent
c.1890C>T; p.F630F; 7:142872377-142872377	skin; leg	malignant_melanoma	Substitution - coding silent
c.1423C>G; p.L475V; 7:142874520-142874520	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.933G>A; p.T311T; 7:142875657-142875657	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.824C>T; p.S275L; 7:142875843-142875843	skin; extremity	malignant_melanoma	Substitution - Missense
c.824C>T; p.S275L; 7:142875843-142875843	skin	malignant_melanoma	Substitution - Missense
c.824C>T; p.S275L; 7:142875843-142875843	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1895G>A; p.R632Q; 7:142872372-142872372	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1409G>A; p.R470Q; 7:142874534-142874534	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1409G>A; p.R470Q; 7:142874534-142874534	skin	malignant_melanoma	Substitution - Missense
c.1918A>G; p.N640D; 7:142871967-142871967	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1409G>A; p.R470Q; 7:142874534-142874534	skin	malignant_melanoma	Substitution - Missense
c.1409G>A; p.R470Q; 7:142874534-142874534	skin	malignant_melanoma	Substitution - Missense
c.1541C>A; p.T514K; 7:142873695-142873695	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1165G>A; p.E389K; 7:142875122-142875122	skin	malignant_melanoma	Substitution - Missense
c.2163G>A; p.W721*; 7:142871722-142871722	skin	malignant_melanoma	Substitution - Nonsense
c.1165G>A; p.E389K; 7:142875122-142875122	skin	malignant_melanoma	Substitution - Missense
c.1404C>G; p.F468L; 7:142874539-142874539	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.801G>T; p.Q267H; 7:142875866-142875866	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1128C>A; p.A376A; 7:142875159-142875159	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.978G>A; p.R326R; 7:142875612-142875612	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2014C>T; p.P672S; 7:142871871-142871871	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1050C>A; p.R350R; 7:142875540-142875540	liver	carcinoma	Substitution - coding silent
c.246G>A; p.A82A; 7:142877754-142877754	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1050C>A; p.R350R; 7:142875540-142875540	liver	carcinoma	Substitution - coding silent
c.1657T>G; p.F553V; 7:142873579-142873579	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1164G>A; p.G388G; 7:142875123-142875123	skin	malignant_melanoma	Substitution - coding silent
c.1499T>C; p.V500A; 7:142874096-142874096	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.457C>T; p.R153C; 7:142877172-142877172	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2006T>G; p.L669R; 7:142871879-142871879	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1475G>A; p.R492Q; 7:142874120-142874120	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1771G>A; p.E591K; 7:142873465-142873465	breast	carcinoma	Substitution - Missense
c.1154G>A; p.R385Q; 7:142875133-142875133	skin	malignant_melanoma	Substitution - Missense
c.1154G>A; p.R385Q; 7:142875133-142875133	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.459C>A; p.R153R; 7:142877170-142877170	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1226G>A; p.R409K; 7:142874964-142874964	skin	malignant_melanoma	Substitution - Missense
c.1332C>A; p.L444L; 7:142874611-142874611	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1668C>G; p.S556R; 7:142873568-142873568	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.559G>A; p.A187T; 7:142876766-142876766	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.559G>A; p.A187T; 7:142876766-142876766	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.827C>G; p.T276S; 7:142875840-142875840	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.693C>T; p.P231P; 7:142876477-142876477	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1400A>T; p.Y467F; 7:142874543-142874543	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.693C>T; p.P231P; 7:142876477-142876477	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.973G>A; p.G325R; 7:142875617-142875617	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1151T>C; p.I384T; 7:142875136-142875136	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.586+1G>A; p.?; 7:142876738-142876738	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1365delC; p.F456fs*20; 7:142874578-142874578	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.984C>A; p.Y328*; 7:142875606-142875606	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.229G>A; p.A77T; 7:142877771-142877771	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1840C>T; p.P614S; 7:142872427-142872427	oesophagus	carcinoma	Substitution - Missense
c.1101C>G; p.L367L; 7:142875489-142875489	breast	carcinoma	Substitution - coding silent
c.893C>T; p.T298I; 7:142875774-142875774	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2142T>A; p.G714G; 7:142871743-142871743	stomach	adenocarcinoma	Substitution - coding silent
c.354G>A; p.Q118Q; 7:142877275-142877275	skin	malignant_melanoma	Substitution - coding silent
c.1205T>C; p.V402A; 7:142875082-142875082	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.732C>G; p.F244L; 7:142876438-142876438	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2122C>T; p.R708C; 7:142871763-142871763	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.494A>G; p.H165R; 7:142876831-142876831	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.77G>A; p.R26Q; 7:142885440-142885440	skin	malignant_melanoma	Substitution - Missense
c.1897G>T; p.V633L; 7:142871988-142871988	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.89C>T; p.A30V; 7:142885428-142885428	liver	carcinoma	Substitution - Missense
c.1883G>A; p.R628H; 7:142872384-142872384	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.176A>G; p.Q59R; 7:142877979-142877979	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.89C>T; p.A30V; 7:142885428-142885428	liver	carcinoma	Substitution - Missense
c.1161C>T; p.V387V; 7:142875126-142875126	skin	malignant_melanoma	Substitution - coding silent
c.1465G>A; p.D489N; 7:142874130-142874130	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1465G>A; p.D489N; 7:142874130-142874130	skin	malignant_melanoma	Substitution - Missense
c.1535T>C; p.F512S; 7:142873701-142873701	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.855C>G; p.S285S; 7:142875812-142875812	skin	malignant_melanoma	Substitution - coding silent
c.54G>A; p.K18K; 7:142885463-142885463	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1032C>A; p.T344T; 7:142875558-142875558	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1049G>A; p.R350H; 7:142875541-142875541	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1049G>A; p.R350H; 7:142875541-142875541	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1049G>A; p.R350H; 7:142875541-142875541	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1031C>T; p.T344I; 7:142875559-142875559	central_nervous_system; brain	glioma	Substitution - Missense
c.1031C>T; p.T344I; 7:142875559-142875559	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.1147G>A; p.D383N; 7:142875140-142875140	skin	malignant_melanoma	Substitution - Missense
c.245C>T; p.A82V; 7:142877755-142877755	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2057G>A; p.R686Q; 7:142871828-142871828	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.679G>A; p.D227N; 7:142876491-142876491	skin	malignant_melanoma	Substitution - Missense
c.245C>T; p.A82V; 7:142877755-142877755	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1126G>A; p.A376T; 7:142875161-142875161	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1040G>A; p.C347Y; 7:142875550-142875550	breast	carcinoma	Substitution - Missense
c.1817G>A; p.R606Q; 7:142872450-142872450	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.381C>T; p.N127N; 7:142877248-142877248	skin	malignant_melanoma	Substitution - coding silent
c.308C>T; p.P103L; 7:142877692-142877692	central_nervous_system; brain	glioma	Substitution - Missense
c.163G>C; p.D55H; 7:142877992-142877992	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1146C>T; p.D382D; 7:142875141-142875141	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.696G>C; p.L232L; 7:142876474-142876474	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1408delC; p.R470fs*6; 7:142874535-142874535	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.787C>T; p.R263W; 7:142875880-142875880	central_nervous_system; brain	glioma	Substitution - Missense
c.535G>A; p.V179M; 7:142876790-142876790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1152C>T; p.I384I; 7:142875135-142875135	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.325C>T; p.P109S; 7:142877675-142877675	skin	malignant_melanoma	Substitution - Missense
c.1336A>T; p.S446C; 7:142874607-142874607	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.110A>G; p.N37S; 7:142885407-142885407	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.160A>G; p.K54E; 7:142877995-142877995	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1076G>A; p.R359H; 7:142875514-142875514	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2112G>A; p.R704R; 7:142871773-142871773	skin	malignant_melanoma	Substitution - coding silent
c.548T>C; p.I183T; 7:142876777-142876777	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1674C>A; p.T558T; 7:142873562-142873562	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2151C>T; p.D717D; 7:142871734-142871734	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.416G>A; p.R139H; 7:142877213-142877213	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.713A>C; p.H238P; 7:142876457-142876457	breast	carcinoma	Substitution - Missense
c.362T>G; p.L121R; 7:142877267-142877267	breast	carcinoma	Substitution - Missense
c.37C>A; p.L13I; 7:142885480-142885480	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.37C>A; p.L13I; 7:142885480-142885480	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.987C>T; p.F329F; 7:142875603-142875603	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.37C>A; p.L13I; 7:142885480-142885480	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1735G>T; p.G579C; 7:142873501-142873501	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.215T>G; p.V72G; 7:142877940-142877940	breast	carcinoma	Substitution - Missense
c.763-1G>T; p.?; 7:142875905-142875905	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.264C>T; p.L88L; 7:142877736-142877736	skin	malignant_melanoma	Substitution - coding silent
c.132C>T; p.I44I; 7:142878023-142878023	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.592A>T; p.T198S; 7:142876578-142876578	skin	malignant_melanoma	Substitution - Missense
c.2153G>A; p.G718E; 7:142871732-142871732	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1907G>A; p.R636K; 7:142871978-142871978	skin	malignant_melanoma	Substitution - Missense
c.677G>A; p.G226E; 7:142876493-142876493	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1907G>A; p.R636K; 7:142871978-142871978	skin	malignant_melanoma	Substitution - Missense
c.34A>G; p.I12V; 7:142885483-142885483	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1545G>A; p.E515E; 7:142873691-142873691	skin	malignant_melanoma	Substitution - coding silent
c.1749G>C; p.W583C; 7:142873487-142873487	skin	malignant_melanoma	Substitution - Missense
c.1416C>G; p.F472L; 7:142874527-142874527	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.350-1G>A; p.?; 7:142877280-142877280	skin	malignant_melanoma	Unknown
c.350-1G>A; p.?; 7:142877280-142877280	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.204G>T; p.E68D; 7:142877951-142877951	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1894C>T; p.R632W; 7:142872373-142872373	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.928C>G; p.Q310E; 7:142875662-142875662	prostate	carcinoma	Substitution - Missense
c.148C>T; p.L50F; 7:142878007-142878007	skin	malignant_melanoma	Substitution - Missense
c.148C>T; p.L50F; 7:142878007-142878007	skin	malignant_melanoma	Substitution - Missense
c.1818G>T; p.R606R; 7:142872449-142872449	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.415C>T; p.R139C; 7:142877214-142877214	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.415C>T; p.R139C; 7:142877214-142877214	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1116A>G; p.L372L; 7:142875474-142875474	central_nervous_system; brain	glioma	Substitution - coding silent
c.349+7G>C; p.?; 7:142877644-142877644	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.916C>A; p.Q306K; 7:142875674-142875674	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2016C>A; p.P672P; 7:142871869-142871869	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.43C>A; p.L15I; 7:142885474-142885474	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.234G>T; p.M78I; 7:142877766-142877766	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1393G>A; p.V465I; 7:142874550-142874550	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1393G>A; p.V465I; 7:142874550-142874550	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.77_78GG>AA; p.R26Q; 7:142885439-142885440	skin; mucosal	malignant_melanoma	Substitution - Missense
c.932C>T; p.T311M; 7:142875658-142875658	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.588A>T; p.G196G; 7:142876582-142876582	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1241G>A; p.R414H; 7:142874949-142874949	ovary	carcinoma; clear_cell_carcinoma	Substitution - Missense
c.1135A>G; p.T379A; 7:142875152-142875152	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1585G>A; p.A529T; 7:142873651-142873651	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2101G>A; p.G701R; 7:142871784-142871784	skin	malignant_melanoma	Substitution - Missense
c.838C>A; p.L280I; 7:142875829-142875829	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1927C>T; p.R643W; 7:142871958-142871958	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1877G>A; p.G626E; 7:142872390-142872390	skin	malignant_melanoma	Substitution - Missense
c.2177G>A; p.726; 7:142871708-142871708	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1162G>T; p.G388W; 7:142875125-142875125	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.197A>G; p.K66R; 7:142877958-142877958	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.743G>A; p.G248E; 7:142876427-142876427	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.28G>A; p.G10R; 7:142885489-142885489	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.490G>A; p.E164K; 7:142876835-142876835	skin	malignant_melanoma	Substitution - Missense
c.1122G>T; p.Q374H; 7:142875468-142875468	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1277A>G; p.H426R; 7:142874913-142874913	liver	carcinoma	Substitution - Missense
c.1122G>T; p.Q374H; 7:142875468-142875468	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1277A>G; p.H426R; 7:142874913-142874913	liver	carcinoma	Substitution - Missense
c.1758C>A; p.A586A; 7:142873478-142873478	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2T>C; p.M1T; 7:142885515-142885515	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1392C>T; p.N464N; 7:142874551-142874551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2067C>A; p.S689S; 7:142871818-142871818	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2067C>A; p.S689S; 7:142871818-142871818	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2085G>A; p.W695*; 7:142871800-142871800	skin	malignant_melanoma	Substitution - Nonsense
c.283G>A; p.A95T; 7:142877717-142877717	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.275T>G; p.L92R; 7:142877725-142877725	skin	malignant_melanoma	Substitution - Missense
c.103G>A; p.E35K; 7:142885414-142885414	skin	malignant_melanoma	Substitution - Missense
c.723C>T; p.L241L; 7:142876447-142876447	skin	malignant_melanoma	Substitution - coding silent
c.753T>C; p.G251G; 7:142876417-142876417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.364C>G; p.H122D; 7:142877265-142877265	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1936C>T; p.R646C; 7:142871949-142871949	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1279G>A; p.V427I; 7:142874911-142874911	skin; leg	malignant_melanoma; superficial_spreading	Substitution - Missense
c.718G>A; p.G240S; 7:142876452-142876452	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2175C>A; p.I725I; 7:142871710-142871710	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.224G>T; p.R75I; 7:142877931-142877931	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.32T>A; p.L11Q; 7:142885485-142885485	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2175C>A; p.I725I; 7:142871710-142871710	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.273C>T; p.N91N; 7:142877727-142877727	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.931A>T; p.T311S; 7:142875659-142875659	liver	carcinoma	Substitution - Missense
c.2056C>T; p.R686*; 7:142871829-142871829	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.236G>T; p.G79V; 7:142877764-142877764	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1431C>A; p.P477P; 7:142874512-142874512	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2096G>C; p.R699P; 7:142871789-142871789	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.261C>T; p.A87A; 7:142877739-142877739	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.212A>T; p.K71M; 7:142877943-142877943	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2048C>T; p.S683L; 7:142871837-142871837	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1261C>T; p.L421F; 7:142874929-142874929	skin	malignant_melanoma	Substitution - Missense
c.2165A>G; p.E722G; 7:142871720-142871720	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.322G>A; p.E108K; 7:142877678-142877678	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1503C>T; p.I501I; 7:142874092-142874092	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.896C>T; p.T299I; 7:142875771-142875771	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.337G>C; p.E113Q; 7:142877663-142877663	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1849G>A; p.G617R; 7:142872418-142872418	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1101C>T; p.L367L; 7:142875489-142875489	skin	malignant_melanoma	Substitution - coding silent
c.1882C>T; p.R628C; 7:142872385-142872385	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation