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	4057
Symbol	LTF
Synonymous	GIG12\|HEL110\|HLF2\|LF
Full name	lactotransferrin
Gene description	epididymis luminal protein 110\|growth-inhibiting protein 12\|kaliocin-1\|lactoferricin\|lactoferroxin\|neutrophil lactoferrin\|talalactoferrin
Cytoband	3p21.31
Gene type	protein-coding
Synonymous	MIM:150210; HGNC:HGNC:6720; Ensembl:ENSG00000012223; HPRD:01028; Vega:OTTHUMG00000156325

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2073T>A; p.T691T; 3:46437965-46437965	prostate	carcinoma	Substitution - coding silent
c.818C>T; p.A273V; 3:46450559-46450559	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.65_66insCGA; p.R22>SE; 3:46459797-46459798	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Complex - insertion inframe
c.1879C>T; p.R627C; 3:46439325-46439325	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1879C>T; p.R627C; 3:46439325-46439325	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.555C>T; p.F185F; 3:46455387-46455387	skin	malignant_melanoma	Substitution - coding silent
c.1325C>T; p.P442L; 3:46446472-46446472	skin	malignant_melanoma	Substitution - Missense
c.332A>G; p.Y111C; 3:46455963-46455963	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1316G>T; p.S439I; 3:46446481-46446481	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1299C>G; p.N433K; 3:46447312-46447312	breast	carcinoma	Substitution - Missense
c.1559C>A; p.S520Y; 3:46443537-46443537	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1162G>A; p.V388M; 3:46448913-46448913	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1200C>A; p.I400I; 3:46448875-46448875	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.732C>T; p.D244D; 3:46450645-46450645	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1737G>T; p.E579D; 3:46439467-46439467	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1152C>T; p.S384S; 3:46448923-46448923	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1894T>C; p.L632L; 3:46439310-46439310	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.271T>G; p.Y91D; 3:46456335-46456335	bone; rib	chondrosarcoma	Substitution - Missense
c.1719T>C; p.T573T; 3:46441420-46441420	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.763C>A; p.R255R; 3:46450614-46450614	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.220G>A; p.D74N; 3:46456386-46456386	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1053G>A; p.R351R; 3:46449858-46449858	skin	malignant_melanoma	Substitution - coding silent
c.1488C>A; p.F496L; 3:46445306-46445306	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1229C>T; p.A410V; 3:46447382-46447382	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1676G>A; p.G559E; 3:46441463-46441463	skin	malignant_melanoma	Substitution - Missense
c.323G>A; p.R108Q; 3:46455972-46455972	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.266C>T; p.A89V; 3:46456340-46456340	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.323G>A; p.R108Q; 3:46455972-46455972	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.266C>T; p.A89V; 3:46456340-46456340	skin	malignant_melanoma	Substitution - Missense
c.66G>A; p.R22R; 3:46459797-46459797	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.8T>C; p.L3P; 3:46464860-46464860	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1545G>A; p.G515G; 3:46443551-46443551	liver	carcinoma	Substitution - coding silent
c.66_67insAA; p.R23fs*24; 3:46459796-46459797	skin; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.1545G>A; p.G515G; 3:46443551-46443551	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1623C>T; p.N541N; 3:46443473-46443473	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.747C>T; p.L249L; 3:46450630-46450630	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.140A>G; p.K47R; 3:46459723-46459723	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.140A>G; p.K47R; 3:46459723-46459723	thyroid	other; neoplasm	Substitution - Missense
c.728G>T; p.R243M; 3:46450649-46450649	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1852G>T; p.V618L; 3:46439352-46439352	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.251A>G; p.Y84C; 3:46456355-46456355	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1406G>A; p.W469*; 3:46445388-46445388	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.684_685insAG; p.S231fs*50; 3:46454323-46454324	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.986T>A; p.V329E; 3:46449925-46449925	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1243G>A; p.G415R; 3:46447368-46447368	skin	malignant_melanoma	Substitution - Missense
c.1516G>A; p.E506K; 3:46443580-46443580	skin	malignant_melanoma	Substitution - Missense
c.1516G>A; p.E506K; 3:46443580-46443580	skin	malignant_melanoma	Substitution - Missense
c.446G>A; p.G149E; 3:46455849-46455849	skin	malignant_melanoma	Substitution - Missense
c.1196G>A; p.C399Y; 3:46448879-46448879	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.446G>A; p.G149E; 3:46455849-46455849	skin	malignant_melanoma	Substitution - Missense
c.2106G>A; p.L702L; 3:46436222-46436222	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1531A>T; p.S511C; 3:46443565-46443565	pancreas	carcinoma	Substitution - Missense
c.145C>T; p.R49C; 3:46459718-46459718	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1927G>T; p.G643*; 3:46438111-46438111	oesophagus	carcinoma	Substitution - Nonsense
c.145C>T; p.R49C; 3:46459718-46459718	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.145C>T; p.R49C; 3:46459718-46459718	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.145C>T; p.R49C; 3:46459718-46459718	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.145C>T; p.R49C; 3:46459718-46459718	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1441G>A; p.A481T; 3:46445353-46445353	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.883-10_883-9insT; p.?; 3:46450037-46450038	liver	carcinoma	Unknown
c.1737G>C; p.E579D; 3:46439467-46439467	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1441G>A; p.A481T; 3:46445353-46445353	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.588G>A; p.G196G; 3:46455354-46455354	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.218C>T; p.A73V; 3:46456388-46456388	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.360C>T; p.G120G; 3:46455935-46455935	stomach	adenocarcinoma	Substitution - coding silent
c.360C>T; p.G120G; 3:46455935-46455935	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1944C>A; p.D648E; 3:46438094-46438094	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1713G>T; p.Q571H; 3:46441426-46441426	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.850G>C; p.D284H; 3:46450527-46450527	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.696A>C; p.T232T; 3:46454312-46454312	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1524C>T; p.F508F; 3:46443572-46443572	skin	malignant_melanoma	Substitution - coding silent
c.1082G>A; p.R361H; 3:46448993-46448993	pancreas	carcinoma	Substitution - Missense
c.992delC; p.P331fs*3; 3:46449919-46449919	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.87C>A; p.A29A; 3:46459776-46459776	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.34G>A; p.G12R; 3:46464834-46464834	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1082G>A; p.R361H; 3:46448993-46448993	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.178T>C; p.S60P; 3:46459685-46459685	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1470C>T; p.I490I; 3:46445324-46445324	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.422C>T; p.T141I; 3:46455873-46455873	skin	malignant_melanoma	Substitution - Missense
c.980C>T; p.S327L; 3:46449931-46449931	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.85G>A; p.A29T; 3:46459778-46459778	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.85G>A; p.A29T; 3:46459778-46459778	thyroid	other; neoplasm	Substitution - Missense
c.416G>A; p.R139H; 3:46455879-46455879	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2030C>T; p.T677I; 3:46438008-46438008	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.946G>T; p.D316Y; 3:46449965-46449965	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1191G>A; p.E397E; 3:46448884-46448884	skin	malignant_melanoma	Substitution - coding silent
c.339C>T; p.A113A; 3:46455956-46455956	breast	carcinoma	Substitution - coding silent
c.1824C>T; p.C608C; 3:46439380-46439380	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.361G>A; p.G121S; 3:46455934-46455934	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1649C>T; p.A550V; 3:46443447-46443447	thyroid	carcinoma	Substitution - Missense
c.165C>T; p.C55C; 3:46459698-46459698	ovary	other; neoplasm	Substitution - coding silent
c.165C>T; p.C55C; 3:46459698-46459698	ovary	other; neoplasm	Substitution - coding silent
c.1855G>A; p.V619M; 3:46439349-46439349	skin; trunk	malignant_melanoma	Substitution - Missense
c.1200C>T; p.I400I; 3:46448875-46448875	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1477G>T; p.G493C; 3:46445317-46445317	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1477G>T; p.G493C; 3:46445317-46445317	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.513C>G; p.F171L; 3:46455429-46455429	breast	carcinoma	Substitution - Missense
c.2061C>T; p.V687V; 3:46437977-46437977	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.834T>C; p.S278S; 3:46450543-46450543	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1201G>A; p.A401T; 3:46448874-46448874	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.1201G>A; p.A401T; 3:46448874-46448874	urinary_tract; bladder	carcinoma	Substitution - Missense
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.69_70insAAG; p.R23_S24insK; 3:46459793-46459794	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.2079G>A; p.L693L; 3:46437959-46437959	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.586delG; p.E197fs*22; 3:46455356-46455356	breast	carcinoma	Deletion - Frameshift
c.398C>T; p.S133F; 3:46455897-46455897	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.763C>T; p.R255W; 3:46450614-46450614	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1978C>T; p.L660F; 3:46438060-46438060	skin	malignant_melanoma	Substitution - Missense
c.763C>T; p.R255W; 3:46450614-46450614	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.281G>A; p.R94Q; 3:46456325-46456325	NS	malignant_melanoma	Substitution - Missense
c.487_488CC>TT; p.P163F; 3:46455807-46455808	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.104C>T; p.A35V; 3:46459759-46459759	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1066G>A; p.E356K; 3:46449009-46449009	skin	malignant_melanoma	Substitution - Missense
c.1066G>A; p.E356K; 3:46449009-46449009	skin	malignant_melanoma	Substitution - Missense
c.1066G>A; p.E356K; 3:46449009-46449009	skin	malignant_melanoma	Substitution - Missense
c.1694A>G; p.K565R; 3:46441445-46441445	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1502C>A; p.S501Y; 3:46445292-46445292	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1941G>A; p.P647P; 3:46438097-46438097	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.199G>T; p.A67S; 3:46459664-46459664	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.684C>T; p.I228I; 3:46454324-46454324	skin	malignant_melanoma	Substitution - coding silent
c.357G>C; p.K119N; 3:46455938-46455938	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1163T>A; p.V388E; 3:46448912-46448912	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.475G>A; p.G159S; 3:46455820-46455820	skin	malignant_melanoma	Substitution - Missense
c.192T>C; p.C64C; 3:46459671-46459671	breast	carcinoma	Substitution - coding silent
c.522C>T; p.A174A; 3:46455420-46455420	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.968C>T; p.A323V; 3:46449943-46449943	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.615_616GG>TT; p.Q205_E206>H*; 3:46455326-46455327	lung	carcinoma; adenocarcinoma	Complex - compound substitution
c.2090C>T; p.S697L; 3:46437948-46437948	breast	carcinoma	Substitution - Missense
c.1905A>G; p.Q635Q; 3:46439299-46439299	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.253G>A; p.E85K; 3:46456353-46456353	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1681G>A; p.V561I; 3:46441458-46441458	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.253G>A; p.E85K; 3:46456353-46456353	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.173G>T; p.R58I; 3:46459690-46459690	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.409_410GG>AA; p.G137N; 3:46455885-46455886	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.921C>G; p.L307L; 3:46449990-46449990	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.2035G>A; p.E679K; 3:46438003-46438003	skin	malignant_melanoma	Substitution - Missense
c.2035G>A; p.E679K; 3:46438003-46438003	skin	malignant_melanoma	Substitution - Missense
c.921C>G; p.L307L; 3:46449990-46449990	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2035G>A; p.E679K; 3:46438003-46438003	skin; trunk	malignant_melanoma	Substitution - Missense
c.1078C>T; p.R360W; 3:46448997-46448997	pancreas	carcinoma	Substitution - Missense
c.1479C>T; p.G493G; 3:46445315-46445315	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.415C>T; p.R139C; 3:46455880-46455880	skin	malignant_melanoma	Substitution - Missense
c.1304-1G>A; p.?; 3:46446494-46446494	skin	malignant_melanoma	Unknown
c.1631A>G; p.Y544C; 3:46443465-46443465	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1210C>T; p.L404L; 3:46448865-46448865	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.100G>A; p.E34K; 3:46459763-46459763	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.711G>A; p.L237L; 3:46450666-46450666	breast	carcinoma	Substitution - coding silent
c.100G>A; p.E34K; 3:46459763-46459763	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.814C>G; p.H272D; 3:46450563-46450563	thyroid	other; neoplasm	Substitution - Missense
c.6delA; p.K2fs*44; 3:46464862-46464862	breast	carcinoma	Deletion - Frameshift
c.1863G>A; p.R621R; 3:46439341-46439341	skin	malignant_melanoma	Substitution - coding silent
c.1772C>T; p.A591V; 3:46439432-46439432	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.455G>A; p.R152H; 3:46455840-46455840	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.455G>A; p.R152H; 3:46455840-46455840	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.458C>A; p.P153Q; 3:46455837-46455837	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1619G>A; p.S540N; 3:46443477-46443477	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.458C>A; p.P153Q; 3:46455837-46455837	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.1092C>T; p.V364V; 3:46448983-46448983	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1092C>T; p.V364V; 3:46448983-46448983	thyroid	other; neoplasm	Substitution - coding silent
c.897G>A; p.K299K; 3:46450014-46450014	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.630C>T; p.S210S; 3:46455312-46455312	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.830G>A; p.R277Q; 3:46450547-46450547	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.830G>A; p.R277Q; 3:46450547-46450547	skin	malignant_melanoma	Substitution - Missense
c.615G>T; p.Q205H; 3:46455327-46455327	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.692_693insAG; p.S231fs*50; 3:46454315-46454316	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1170C>A; p.C390*; 3:46448905-46448905	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1842G>A; p.P614P; 3:46439362-46439362	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.189G>A; p.Q63Q; 3:46459674-46459674	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1157G>A; p.G386D; 3:46448918-46448918	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.88G>A; p.V30I; 3:46459775-46459775	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1358G>A; p.G453E; 3:46445436-46445436	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.419G>A; p.R140K; 3:46455876-46455876	skin	malignant_melanoma	Substitution - Missense
c.1829T>A; p.L610H; 3:46439375-46439375	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.303C>T; p.Y101Y; 3:46456303-46456303	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.239G>A; p.G80D; 3:46456367-46456367	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.890T>C; p.F297S; 3:46450021-46450021	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2127G>A; p.R709R; 3:46436201-46436201	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.560delA; p.N187fs*32; 3:46455382-46455382	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.506C>T; p.A169V; 3:46455436-46455436	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.996G>T; p.R332S; 3:46449915-46449915	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1370_1371insT; p.A458fs*4; 3:46445423-46445424	breast	carcinoma; basal_(triple-negative)_carcinoma	Insertion - Frameshift
c.1549G>T; p.D517Y; 3:46443547-46443547	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.908C>T; p.P303L; 3:46450003-46450003	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.553T>A; p.F185I; 3:46455389-46455389	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.208G>A; p.E70K; 3:46456398-46456398	NS	malignant_melanoma	Substitution - Missense
c.833G>A; p.S278N; 3:46450544-46450544	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.427G>A; p.G143R; 3:46455868-46455868	skin	malignant_melanoma	Substitution - Missense
c.1945A>T; p.K649*; 3:46438093-46438093	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1451G>A; p.R484K; 3:46445343-46445343	skin	malignant_melanoma	Substitution - Missense
c.1330C>A; p.P444T; 3:46446467-46446467	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1608C>T; p.C536C; 3:46443488-46443488	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1608C>T; p.C536C; 3:46443488-46443488	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.564G>A; p.L188L; 3:46455378-46455378	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1471_1472CC>TT; p.P491F; 3:46445322-46445323	skin	malignant_melanoma	Substitution - Missense
c.454C>T; p.R152C; 3:46455841-46455841	skin	malignant_melanoma	Substitution - Missense
c.1471_1472CC>TT; p.P491F; 3:46445322-46445323	skin	malignant_melanoma	Substitution - Missense
c.1963T>C; p.S655P; 3:46438075-46438075	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.792C>T; p.C264C; 3:46450585-46450585	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1044G>A; p.Q348Q; 3:46449867-46449867	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1632C>A; p.Y544*; 3:46443464-46443464	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.865C>T; p.L289F; 3:46450512-46450512	urinary_tract; bladder	carcinoma	Substitution - Missense
c.495G>T; p.E165D; 3:46455800-46455800	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation